subject:(Gaucher disease)

1. Komninaka - Karkaletsi, Veroniki. Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης.

Degree: 2016, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/38069

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AbstractObjective: The aim of this study was to evaluate bone involvement in patients with Gaucher disease (GD) and to propose a novel semi-quantitative magnetic resonance… (more)

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AbstractObjective: The aim of this study was to evaluate bone involvement in patients with Gaucher disease (GD) and to propose a novel semi-quantitative magnetic resonance imaging (MRI) staging. Methods: MRI of the lumbar spine, femur, and tibia was performed in 24 patients with GD and 24 healthy controls. We also measured circulating levels of C-C motif ligand-3 (CCL-3) chemokine, C-telopeptide of collagen type-1 (CTX), and tartrate-resistant acid phosphatase isoform type-b (TRACP-5b).Results: We used the following staging based on MRI data: stage I: region of interest (ROI) 1/2 of normal values and bone infiltration up to 30%; stage II: ROI 1/3 of normal values and bone infiltration from 30 to 60%; stage III: ROI 1/4 of normal values and bone infiltration from 60% to 80%; and stage IV: detection of epiphyseal infiltration, osteonecrosis and deformity regardless of the ROI’s values. All but two patients had abnormal MRI findings: 9 (37.5%), 6 (25%), 3 (12.5%), and 4 (16.7%) had stages I–IV, respectively. Patients with GD had elevated chitotriosidase, serum TRACP-5b, and CCL-3 levels (P < 0.001).Conclusions: We propose an easily reproducible semi-quantitative scoring system and confirm that patients with GD have abnormal MRI bone findings and enhanced osteoclast activity possibly due to elevated CCL-3.

ΠΕΡΙΛΗΨΗΣκοπός της μελέτης: Σκοπός της μελέτης ήταν να αξιολογήσει την οστική συμμετοχή σε ασθενείς με νόσο Gaucher ( GD ) και να προτείνει ένα νέο ημι – ποσοτικό scoring system βασισμένο στη μαγνητική τομογραφία ( MRI ).Μέθοδος: MRI στην οσφυϊκή μοίρα της σπονδυλικής στήλης , στα μηριαία οστά και στις κνήμες διενεργήθηκε σε 24 ασθενείς με GD και 24 υγιείς μάρτυρες . Επίσης στους ασθενείς και στους μάρτυρες μετρήθηκαν τα επίπεδα της C-C motif ligand - 3 ( CCL -3) χημειοκίνης ,του C -τελοπεπτιδίου του κολλαγόνου τύπου -1 ( CTX ) , και του 5b ισοενζύμου της όξινης φωσφατάσης της ανθεκτικής στο τρυγικό οξύ ( TRACP – 5b).Αποτελέσματα : Βασισμένοι στα MRI ευρήματα δημιουργήσαμε την ακόλουθη ταξινόμηση : στάδιο Ι: ( ROI ) 1/2 των φυσιολογικών τιμών και έκταση ενδομυελικής διήθησης έως 30 % , στάδιο ΙΙ : ROI 1/3 των φυσιολογικων τιμών και διήθηση από 30 έως60 % , σταδίο III : ROI 1/4 των φυσιολογικών τιμών και διήθηση από 60% έως 80 % και το στάδιο IV : ανίχνευση διήθησης στην επίφυση, οστεονέκρωση και παραμόρφωση ανεξάρτητα των τιμών ROI. Όλοι οι ασθενείς εκτός από δύο είχαν παθολογικά ευρήματα στην MRI : 9 ( 37.5 %) , 6 (25% ), 3 ( 12,5 %) , και 4 (16,7 %) ήταν σταδίου Ι - IV , αντίστοιχα . Οι ασθενείς με GD είχαν αυξημένα επίπεδα χιτοτριοσιδάσης πλάσματος ,καθώς και αυξημένα επίπεδα TRACP - 5β , και CCL -3 (Ρ < 0,001) ορού .Συμπεράσματα : Προτείνουμε ένα καινούργιο ημι-ποσοτικό scoring system, βασισμένο στην MRI και επιβεβαιώνουμε ότι οι ασθενείς με GD έχουν παθολογικά ευρήματα από τα οστά στην MRI και αυξημένη οστεοκλαστική δραστηριότητα πιθανώς λόγω της αυξημένης CCL – 3.

Subjects/Keywords: Νόσος Γκοσέ; Gaucher disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Komninaka - Karkaletsi, V. (2016). Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/38069

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Komninaka - Karkaletsi, Veroniki. “Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης.” 2016. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed January 20, 2021. http://hdl.handle.net/10442/hedi/38069.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Komninaka - Karkaletsi, Veroniki. “Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης.” 2016. Web. 20 Jan 2021.

Vancouver:

Komninaka - Karkaletsi V. Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2016. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10442/hedi/38069.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Komninaka - Karkaletsi V. Μελέτη της οστικής νόσου και του οστικού μεταβολισμού στη νόσο Gaucher: επίδραση της θεραπείας ενζυμικής υποκατάστασης. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2016. Available from: http://hdl.handle.net/10442/hedi/38069

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

2. Sotiropoulos, Christos. Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1.

Degree: 2018, University of Patras; Πανεπιστήμιο Πατρών

URL: http://hdl.handle.net/10442/hedi/44468

► Gaucher’s disease is a systemic metabolic disorder, with clear clinical and laboratory evidence of chronic stimulation of the immune system, especially of the acquired immunity… (more)

▼ Gaucher’s disease is a systemic metabolic disorder, with clear clinical and laboratory evidence of chronic stimulation of the immune system, especially of the acquired immunity arm. The goal of the present dissertation was to investigate the status of the Th1/Th2 balance.Totally twenty-two patients with Gaucher’s disease type 1 were studied (range 16-67 years). They were divided into 4 groups, one as a whole patient population and the others, based on the presence/absence of bone complications or/and splenectomy. A group of 19 healthy individuals (range 26-70 years) was also included in the study and served as controls.Specific T-lymphocyte subpopulations of the peripheral blood were measured (in absolute numbers and percentages) by using whole blood flow cytometry. The concentrations of Th1- and Th2-direction cytokines in the supernatant of simple liquid T-lymphocyte cultures were determined with ELISA.All patients with Gaucher’s disease type 1, as well as the group without complications and that with bone complications were found to have statistically significant decrease of the absolute helper/inducer CD4+ T-lymphocyte counts, compared to the control group (774 ± 326 versus 1036 ± 278/μl, p= 0.011, 674 ± 211 versus 1036 ± 278/μl, p<0.001 and 718 ± 336 versus 1036 ± 278/μl, p= 0.022, respectively). As for the suppressor/cytotoxic CD8+ T-lymphocytes, patients as a whole group, and those with bone complications had significantly higher counts, compared to the normal control group (23.8 ± 7.9%, p = 0.010 and 24.8 ± 6.2%, p = 0.018, respectively, versus 18.2 ± 3.8% of the controls). Splenectomised patients had significantly higher percentage and absolute number of peripheral blood CD8+ T-lymphocytes (27.6 ± 7.8% versus 18.2 ± 3.8%, p = 0.001 και 849 ±397/μl versus 378 ± 109/μl, p< 0.001, respectively). Additionally, in all 4 patient groups, a significant decrease of CD4/CD8 ratio was found, compared to the control group (1.9 ± 0.8, p< 0.001, 2.2 ± 0.8, p = 0.018, 1.9 ± 0.5, p = 0.006, and 1.5 ±0.5 versus 2.9 ± 0.8 of the control, p< 0.001 respectively).The study of the NK cells revealed that patients as a whole group and those without serious disease-related complications had mean absolute NK-non T-lymphocytes counts approximately two times lower than those of the control group. Patients with bone complications had the CD3-CD56+, CD3-CD56dim and CD3-CD56dim+CD16+ subpopulations of the ΝΚ cells, approximately 3 times lower. However, in all the above cases, the aforementioned differences were not statistically significant.The populations of stimulated CD4+ and CD8+ helper/inducer T-lymphocytes, based on the expression of the HLA-DR antigen, were found significantly higher among the splectomized patients, compared to the control group (103 ± 56/μl versus 48 ± 15/μl, p = 0.003 and 201 ± 155 versus 41 ± 17/μl, p< 0.001, respectively). Additionally, based on the weak expression of the CD25 antigen, patients as a whole group and those, who were free of complications had significantly decreased absolute number of activated…

Subjects/Keywords: Επίκτητη ανοσία; Gaucher disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Sotiropoulos, C. (2018). Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1. (Thesis). University of Patras; Πανεπιστήμιο Πατρών. Retrieved from http://hdl.handle.net/10442/hedi/44468

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Sotiropoulos, Christos. “Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1.” 2018. Thesis, University of Patras; Πανεπιστήμιο Πατρών. Accessed January 20, 2021. http://hdl.handle.net/10442/hedi/44468.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Sotiropoulos, Christos. “Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1.” 2018. Web. 20 Jan 2021.

Vancouver:

Sotiropoulos C. Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1. [Internet] [Thesis]. University of Patras; Πανεπιστήμιο Πατρών; 2018. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10442/hedi/44468.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Sotiropoulos C. Διαταραχές της προσαρμοστικής ανοσίας σε ασθενείς με νόσο Gaucher τύπου 1. [Thesis]. University of Patras; Πανεπιστήμιο Πατρών; 2018. Available from: http://hdl.handle.net/10442/hedi/44468

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

3. Astudillo, Leonardo. Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease.

Degree: Docteur es, Physiopathologie, 2016, Université Toulouse III – Paul Sabatier

URL: http://www.theses.fr/2016TOU30401

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Les sphingolipides représentent une classe majeure de lipides qui sont des constituants de toutes les cellules eucaryotes. Ils sont des effecteurs bioactifs impliqués dans les… (more)

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Les sphingolipides représentent une classe majeure de lipides qui sont des constituants de toutes les cellules eucaryotes. Ils sont des effecteurs bioactifs impliqués dans les fonctions clés cellulaires comme la différenciation, la prolifération, la motilité, l'apoptose et la sénescence. De plus, leur rôle dans le cancer est maintenant bien établi pour de nombreux sphingolipides. La maladie de Gaucher (MG) est une lipidose héréditaire, à transmission autosomique récessive, due à un déficit enzymatique en glucocérébrosidase (béta-glucosidase acide, codée par le gène GBA1). Cette enzyme est une des différentes enzymes participant au métabolisme des sphingolipides : elle permet la dégradation du glucosylcéramide (GlcCer) en céramide. La MG est caractérisée par une surcharge en GlcCer dans les cellules du système réticulo-endothélial du foie, de la rate et de la moelle osseuse (cellules de Gaucher). Ces dernières années ont permis de montrer qu'il existe une surreprésentation de divers cancers,tels que le myélome multiple et le mélanome, dans la MG. Les mécanismes impliqués ne sont cependant pas connus. L'objectif de ces travaux de thèse est de comprendre la survenue des cancers dans la MG.Nous avons pour cela développé un modèle de cancérogenèse dans la MG en utilisant des modèles murins pour rechercher un effet favorisant du micro environnement de la MG sur la survenue de cancers dans cette maladie et de pouvoir étudier les éventuels mécanisme simpliqués.Nos résultats montrent que dans deux modèles murins différents (D409V et D409/null) deMG, la croissance tumorale des cellules de mélanome est augmentée comparée aux contrôles,chez les femelles mais aussi chez les mâles. Nous avons étudié également au niveau cellulaire quels pouvaient être les types cellulaires impliqués. Nous montrons que les lymphocytes NKTne sont pas diminués dans le foie et dans la rate; de plus, les lymphocytes T CD8+ et les cellules NK ne sont pas diminués dans les souris Gaucher par rapport aux contrôles.En conclusion, nous décrivons le premier modèle murin de développement du mélanome dans la maladie de Gaucher. Dans ce modèle, les mécanismes à l'origine d'une croissance accrue du mélanome demeurent à préciser.

Sphingolipids represent a major class of lipids, and are important constituents of alleukaryotic cells. They comprise bioactive effectors implicated in key cellular functions,including cell differentiation, proliferation, motility, apoptosis or senescence. Moreover, theirrole in cancer is now well established for numerous sphingolipids. Gaucher disease (GD) is an inherited lipidosis, with autosomal recessive transmission, due tothe deficient activity of glucocerebrosidase (acid beta-glucosidase, encoded by the GBA1gene). This enzyme is one of multiple enzymes of the metabolic pathway of sphingolipids. Itallows the degradation of glucosylceramide (GlcCer) to ceramide. GD is characterised byGlcCer storage of the reticulo-endothelial cells of the liver, spleen and bone marrow (Gauchercells). Evidence has recently been provided for an…

Advisors/Committee Members: Levade, Thierry (thesis director).

Subjects/Keywords: Maladie de Gaucher; Cancer; Cancérogénèse; Sphingolipides; Glucosylcéramide; Souris gaucher; Mélanome; Gaucher disease; Cancer; Cancerogenesis; Sphingolipids; Glucosylceramide; Gaucher mouse; Melanoma

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Astudillo, L. (2016). Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease. (Doctoral Dissertation). Université Toulouse III – Paul Sabatier. Retrieved from http://www.theses.fr/2016TOU30401

Chicago Manual of Style (16^th Edition):

Astudillo, Leonardo. “Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease.” 2016. Doctoral Dissertation, Université Toulouse III – Paul Sabatier. Accessed January 20, 2021. http://www.theses.fr/2016TOU30401.

MLA Handbook (7^th Edition):

Astudillo, Leonardo. “Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease.” 2016. Web. 20 Jan 2021.

Vancouver:

Astudillo L. Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease. [Internet] [Doctoral dissertation]. Université Toulouse III – Paul Sabatier; 2016. [cited 2021 Jan 20]. Available from: http://www.theses.fr/2016TOU30401.

Council of Science Editors:

Astudillo L. Rôle des sphingolipides dans la cancérogenèse : l'exemple de la maladie de Gaucher : Role of sphingolipids in cancerogenesis : the exemple of Gaucher disease. [Doctoral Dissertation]. Université Toulouse III – Paul Sabatier; 2016. Available from: http://www.theses.fr/2016TOU30401

Univerzitet u Beogradu

4. Kovač-Šarenac, Radmila, 1956-. Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji.

Degree: Medicinski fakultet, 2015, Univerzitet u Beogradu

URL: https://fedorabg.bg.ac.rs/fedora/get/o:9804/bdef:Content/get

► Cilj : Portna hipertenzija je klinički sindrom sa brojnim uzrocima i komplikacijama, a patofiziloški mehanizam njenog nastanka je povećanje pritiska u portnoj veni (> 12… (more)

▼ Cilj : Portna hipertenzija je klinički sindrom sa brojnim uzrocima i komplikacijama, a patofiziloški mehanizam njenog nastanka je povećanje pritiska u portnoj veni (> 12 mmHg) zbog anatomske ili funkcionalne opstrukcije protoka krvi u venskom sistemu jetre. Hemodinamika u portnom venskom sistemu je povezana sa brojnim vazo-aktivnim medijatorima. Glavni cilj naseg istrazivanja je bio je odredjivanje protoka u portnoj i slezinskoj veni u dva razlicita oboljenja (Goseova bolest i ciroza jetre ) ,odredjivanje nivoa angiotenzin konvertujuceg enzima kod obe grupe pacijenata (ACE) i analiza korelacije nivoa ACE sa Doppler parametrima u portnoj hipertenziji. Metodologija : Ispitivali smo 40 pacijenata sa kompenzovanom cirozom jetre i 20 pacijenata sa Goseovom bolescu.Svim pacijentima su prethodno postavljene dijagnoze u KCS u Beogradu u hospitalnim uslovima. Ispitivanja su obuhvatila: Određivanje ACE enzimske aktivnosti u serumu metodom spektrofotometrije ,Kolor Doppler ultrasonografija (pulsni Doppler mod) Ultrasonografska merenja su obuhvatila: Morfologiju jetre i slezine (promeri, struktura).Portna i slezinska vena su ispitivane kolor kodiranjem lumena, merenjem poprečnog dijametra i protoka (maksimalna brzina, srednja brzina i zapreminski protok). Analizirali smo povezanost protoka u pornoj i slezinskoj veni ,tj povezanost hemodinamike u portnom venskom sistemu sa vrednostima angiotenzin konvertujuceg enzima (ACE) kao jednog od najpotentnijih vazoaktivnih medijatora. Rezultati: .U ispitivanju hemodinamike u portnom venskom sistemu nasi rezultati su pokazali da postoje statistički visoko značajne razlike u maksimalnim i srednjim brzinama protoka u portnoj veni izmedju grupa pacijenata.Najveće kako maksimalne tako i srednje brzine su izmerene u grupi sa Gošeovom bolescu.gde je protok hiperkinetski. Kada je u pitanju slezinska vena najveća brzina protoka je bila takodje u grupi sa Gošeovom bolescu što odgovara i najvećoj slezini u ovoj grupi pacijenata i pokazuje statističku značajnost. .Ovaj rezultat je veoma značajan i govori u prilog povezanosti ovih protoka sa vrednostima ACE. Maksimalne brzine protoka u slezinskoj veni nisu pokazale statistički značajne razlike izmedju grupa pacijenata. Odredjivanjem vrednosti ACE u serumu kod ispitanika nadjena je najveca prosecna koncentracija ACE u grupi ispitanika sa Goseovom bolescu 339,42 U/L , u alkoholnoj cirozi 59,80 U/L, a u autoimunoj bolesti jetre 33,59 U/L.Postoji statisticki znacajna razlika u koncentraciji ACE izmedju grupa Kod svih ispitanika ustanovljena je jaka linearna korelacija izmedju ACE koncentracije i maksimalne brzine protoka u portnoj veni.Takodje naši rezultati pokazuju, kod pacijenata sa cirozom jetre, jaku linearnu korelaciju izmedju veličine slezine i maksimalne brzne protoka u portnoj veni, kao i jaku linearnu korelaciju izmedju ACE koncentracije i maksimalne brzine protoka u portnoj veni. Zaključak: Naša ispitivanja hemodinamike u portnom venskom sistemu ukazuju na povezanost ultrazvucnih doppler parametara tj .brzine protoka u portnoj i slezinskoj veni… Advisors/Committee Members: Tomić, Dragan, 1953-.

Subjects/Keywords: Cirrhosis; Gaucher disease; portal hypertension; ACE

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Kovač-Šarenac, Radmila, 1. (2015). Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:9804/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Kovač-Šarenac, Radmila, 1956-. “Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji.” 2015. Thesis, Univerzitet u Beogradu. Accessed January 20, 2021. https://fedorabg.bg.ac.rs/fedora/get/o:9804/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Kovač-Šarenac, Radmila, 1956-. “Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji.” 2015. Web. 20 Jan 2021.

Vancouver:

Kovač-Šarenac, Radmila 1. Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji. [Internet] [Thesis]. Univerzitet u Beogradu; 2015. [cited 2021 Jan 20]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:9804/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Kovač-Šarenac, Radmila 1. Korelacija angiotenzin konvertujućeg enzima (ACE) sa Doppler parametrima u portnoj hipertenziji. [Thesis]. Univerzitet u Beogradu; 2015. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:9804/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Sul

5. Doneda, Divair. Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher.

Degree: 2013, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/71632

► INTRODUÇÃO: A doença de Gaucher (DG) é um erro inato do metabolismo causado pela atividade deficiente da enzima glicocerebrosidase e subdivide-se em três tipos: tipo… (more)

▼ INTRODUÇÃO: A doença de Gaucher (DG) é um erro inato do metabolismo causado pela atividade deficiente da enzima glicocerebrosidase e subdivide-se em três tipos: tipo I (DG tipo I), que é o mais frequente e não apresenta comprometimento do sistema nervoso central; o II (DG tipo II), agudo e neuronopático; e o III (DG tipo III), subagudo e neuropático. Todos os tipos caracterizam-se pela heterogeneidade clínica, com manifestações de intensidade distintas, tais como: hepatoesplenomegalia, alterações hematológicas e dores ósseas. Alterações no metabolismo energético também são descritas. A terapia de escolha para a DG é a reposição enzimática (TRE). OBJETIVO PRINCIPAL: Avaliar o estado nutricional e a homeostase de energia em pacientes com DG em TRE. MÉTODOS: A presente tese contemplou 4 etapas: Etapa 1) Elaboração de revisão sistemática da literatura sobre aspectos nutricionais da DG tipo I. Etapa 2) Avaliação da coorte de pacientes acompanhados no Centro de Referência para DG do Rio Grande do Sul (CRDG/RS; n= 38; DG tipo I=35; DG tipo III= 3) quanto a dados relativos ao estado nutricional. Etapa 3) Avaliação do gasto energético basal por calorimetria indireta dos pacientes com DG tipo III do CRDG/RS. Etapa 4) Avaliação, por meio de estudo transversal controlado, dos níveis de grelina, leptina e adiponectina de pacientes com DG tipo I do CRDG/RS, com idade superior a 18 anos e em TRE há mais de 6 meses (n=15); os pacientes foram pareado por sexo, idade e IMC com controles hígidos. RESULTADOS: Etapa 1) Foram localizados 175 estudos, dos quais 28 preencheram os critérios de inclusão. Etapa 2) Avaliação da coorte de pacientes acompanhados no Centro de Referência para DG do Rio Grande do Sul (CRDG/RS; n= 38; DG tipo I=35; DG tipo III= 3) quanto a dados relativos ao estado nutricional. Etapa 2) Os dados antropométricos dos pacientes adultos com DG tipo I (n=31) revelaram que quatorze apresentavam sobrepeso ou obesidade grau I e todos os pacientes com idade inferior a 18 anos estavam com peso e estatura adequados. A idade dos pacientes apresentou alta correlação com o IMC e com o nível de ferritina. O IMC apresentou correlação com a ferritina e esta com o colesterol total e com o LDL-colesterol. O colesterol total apresentou correlação com o HDL, com o LDL e uma correlação negativa com a quitotriosidase. O subgrupo que iniciou o tratamento com idade superior a 18 anos (n=16) teve um aumento significativo de IMC após a TRE (p=0,001) e o que iniciou o tratamento antes de 16 anos (n=10) teve um aumento significativo no escore-z para estatura e IMC (p=0,004 e p= 0,032, respectivamente). Etapa 3) Os pacientes com DG tipo III apresentaram hipermetabolismo e dois deles estavam desnutridos. Etapa 4) A mediana dos níveis de grelina, leptina e adiponectina dos pacientes não diferiu da dos controles. Os níveis de grelina e adiponectina apresentaram correlação positiva entre si e com o HDL-colesterol; e inversa com o IMC, circunferência de cintura e triglicerídeos. Os níveis de leptina apresentaram correlação inversa com o… Advisors/Committee Members: Schwartz, Ida Vanessa Doederlein.

Subjects/Keywords: Doença de Gaucher; Gaucher disease; Nutritional status; Estado nutricional; Ghrelin; Grelina; Leptin; Leptina; Adiponectina; Adiponectin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Doneda, D. (2013). Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/71632

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Doneda, Divair. “Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher.” 2013. Thesis, Universidade do Rio Grande do Sul. Accessed January 20, 2021. http://hdl.handle.net/10183/71632.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Doneda, Divair. “Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher.” 2013. Web. 20 Jan 2021.

Vancouver:

Doneda D. Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2013. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10183/71632.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Doneda D. Avaliação do estado nutricional e de parâmetros da homeostase de energia em pacientes com Doença de Gaucher. [Thesis]. Universidade do Rio Grande do Sul; 2013. Available from: http://hdl.handle.net/10183/71632

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Sul

6. Oliveira, Fabiane Lopes. Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses.

Degree: 2010, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/26931

► Introdução: As doenças de Gaucher (DG), Fabry (DF) e Mucopolissacaridoses (MPS) constituem-se nos tipos mais frequentes de doenças lisossômicas (DL) tratados por terapia de reposição… (more)

▼ Introdução: As doenças de Gaucher (DG), Fabry (DF) e Mucopolissacaridoses (MPS) constituem-se nos tipos mais frequentes de doenças lisossômicas (DL) tratados por terapia de reposição enzimática (TRE). No Brasil, até o presente momento, não há dados de avaliação da qualidade de vida de pacientes com DL, nem instrumento específico validado paratanto. Objetivo: Avaliar a qualidade de vida (QV) de uma amostra de pacientes brasileiros com DG, DF e MPS por meio da aplicação do questionário SF-36. Método: Estudo transversal observacional. O SF-36 é composto por 8 domínios: capacidade funcional, aspecto físico, dor e estado geral de saúde; vitalidade, aspecto social e saúde mental. O questionário foi aplicado, em uma consulta de rotina no ano de 2008, aos pacientes atendidos no ambulatório de DL do Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Brasil (SGM/HCPA), com idade igual ou superior a 12 anos e com habilidade cognitiva para preenchimento do mesmo. Resultados: Quarenta e quatro pacientes foram incluídos no estudo (DG= 21, DF=14, MPS= 9; média de idade=27,5±13,7 anos; sexo masculino=27), sendo que 34 (77,2%) estavam em TRE. Considerando a amostra total de pacientes tratados, houve diferença significativa em relação aos domínios capacidade funcional (p=0,036) e estado geral de saúde (p=0,030), sugestiva de melhor QV na DG. Doença de Gaucher: quinze pacientes estavam recebendo TRE com imiglucerase (DG tipo I= 14; DG tipo III= 1; μ tratamento= 8,5±2,5 anos). O domínio com maior pontuação foi saúde mental (μ= 77,3±9,7 para o grupo com TRE, e 72,0±10,8, para o grupo sem TRE); o domínio com menor pontuação foi vitalidade (μ= 67,7±19,9) para o grupo com TRE, e aspectos emocionais (μ= 38,8±44,7) para o grupo sem TRE. A comparação dos pacientes com e sem TRE mostrou que os mesmos diferem somente no domínio “dor” (p= 0,036), cujo escore foi maior entre os pacientes tratados. Doença de Fabry: oito pacientes estavam recebendo TRE com alfagalsidase e 4 com betalgasidase (μ tratamento= 3,5±2,2 anos). Considerando somente os pacientes do sexo masculino (n=10, todos em TRE), o domínio que apresentou maior pontuação foi aspectos emocionais (μ= 66,6±39,4) e o que apresentou menor pontuação foi aspectos físicos (μ= 45,0±40,0. Não foi encontrada diferença estatisticamente significativa entre os grupos recebendo alfagalsidase ou betalgasidase. Para os indivíduos do sexo feminino (n=4, dois em TRE), o domínio que apresentou maior pontuação foi aspectos sociais (μ= 89,8±6,0) e o que apresentou menor pontuação foi estado geral de saúde (μ= 62,2±27,4). Mucopolissacaridoses: nove pacientes foram incluídos (MPS I=3; MPS II=2 MPSIV A= 2, MPS VI=2), sendo que 7 estavam em TRE (MPS I=3; MPS II=2, MPS VI=2; μ tratamento= 4,2 ±2,3 anos). Considerando os pacientes em TRE, a média de pontuação dos domínios variou de 71,4±45,7 (aspectos físicos) a 44,1±21,7 (dor), sendo que em 4 domínios a média foi superior a 60..Entre os pacientes sem TRE, o domínio que apresentou maior pontuação foi aspectos sociais (média= 93,5±6,25) e o que… Advisors/Committee Members: Schwartz, Ida Vanessa Doederlein.

Subjects/Keywords: Quality of life; Doença de Gaucher; Gaucher disease; Doença de Fabry; Fabry disease; Mucopolissacaridoses; Qualidade de vida; Mucopolysaccharidosis; SF-36

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Oliveira, F. L. (2010). Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/26931

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Oliveira, Fabiane Lopes. “Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses.” 2010. Thesis, Universidade do Rio Grande do Sul. Accessed January 20, 2021. http://hdl.handle.net/10183/26931.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Oliveira, Fabiane Lopes. “Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses.” 2010. Web. 20 Jan 2021.

Vancouver:

Oliveira FL. Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2010. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10183/26931.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Oliveira FL. Avaliação da qualidade de vida de pacientes com doença de gaucher, doença de fabry e mucopolissacaridoses. [Thesis]. Universidade do Rio Grande do Sul; 2010. Available from: http://hdl.handle.net/10183/26931

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Univerzitet u Beogradu

7. Лакочевић, Милан, неуролог. 5099367. Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1.

Degree: Medicinski fakultet, 2020, Univerzitet u Beogradu

URL: https://fedorabg.bg.ac.rs/fedora/get/o:20802/bdef:Content/get

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медицина - неурологија / Medicine - Neurology

Циљ ове студије пресека је да се пруже докази о функционалним променама у централном нервном систему оболелих од… (more)

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медицина - неурологија / Medicine - Neurology

Циљ ове студије пресека је да се пруже докази о функционалним променама у централном нервном систему оболелих од Гошеове болести типа 1 (ГБ1) без клиничких неуролошких манифестација, и да се утврди да ли постоје и структурне промене. Методологија: У истраживање је укључено 28 пацијената са ГБ1 и исти број здравих испитаника спарених по полу, годинама живота и доминантној руци. Каталитичка активност β-гликоцереброзидазе у леукоцитима периферне крви утврђена је спектрофлуорометријским методом. Анализа гена GBA1 изведена је директним секвенцирањем. Процена функционалних промена нервног система обављена је 18F-ФДГ-ПЕТ снимањем по протоколу за статичке студије мозга. Квантитативна обрада појединачних налаза и квантитативна групна анализа обављене су методом статистичког параметарског мапирања функционалних слика. Евалуација промена у функционисању мозга обављена је и применом фМР на скенеру јачине магнетног поља 3 T коришћењем 32-каналне завојнице за главу. Протокол аквизиције састојао се од брзе градијент ехо аквизиције са препарацијом магнетизације. Процењивање промена у дебљини мождане коре уз квантификовање запремина појединих формација мозга вршено је коришћењем техника кортикалног мапирања, као и технике морфометрије засноване на поређењу воксела. Снимљени су соматосензорни потенцијали изазвани електричном стимулацијом n. medianus-а обе руке. Надражајима трајања 0,2 ms деловало се на фреквенцији од 5 Hz. Полни хормони мерени су радиоимунолошки методом, коришћењем гама сцинтилационог бројача. Резултати: Код оболелих од ГБ1, детектована је нова мутација c.968A>G у егзону 7 гена GBA1. После 18F-ФДГ-ПЕТ снимања, карактеристичан образац регионалног хипометаболизма гликозе у мозгу добијен је групном СПМ анализом за p < 0,001 без корекције за вишеструка поређења. Значајно нижа активација мозга током фМР при извођењу моторичког задатка утврђена је у шест кластера...

Advisors/Committee Members: Kostić, Vladimir, 1953- 12148839.

Subjects/Keywords: Gaucher disease; β-glucocerebrosidase; 18F-FDG-PET; fMRI; SSEP; testosterone; oestradiol

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Лакочевић, Милан, �. 5. (2020). Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:20802/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Лакочевић, Милан, неуролог 5099367. “Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1.” 2020. Thesis, Univerzitet u Beogradu. Accessed January 20, 2021. https://fedorabg.bg.ac.rs/fedora/get/o:20802/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Лакочевић, Милан, неуролог 5099367. “Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1.” 2020. Web. 20 Jan 2021.

Vancouver:

Лакочевић, Милан �5. Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1. [Internet] [Thesis]. Univerzitet u Beogradu; 2020. [cited 2021 Jan 20]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:20802/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Лакочевић, Милан �5. Процена структурних и функционалних промена нервног система код пацијената са Гошеовом болешћу типа 1. [Thesis]. Univerzitet u Beogradu; 2020. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:20802/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Sul

8. Goldim, Mariana Pereira de Souza. Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher.

Degree: 2012, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/49005

►

A Doença de Gaucher (DG) é a Doença Lisossômica de Depósito mais frequente com prevalência de 1:50.000. Ela é causada pela deficiência da betaglicosidase ácida… (more)

▼

A Doença de Gaucher (DG) é a Doença Lisossômica de Depósito mais frequente com prevalência de 1:50.000. Ela é causada pela deficiência da betaglicosidase ácida (GBA), gerando acúmulo de glicosilceramidas (glicocerebrosídio) nos lisossomos. Outra enzima relacionada é a quitotriosidase (QT), onde a atividade está aumentada nos pacientes em até 1000 vezes. Atualmente o diagnóstico é baseado na atividade específica de enzimas em leucócitos ou fibroblastos. O uso de sangue impregnado em papel filtro (SPF) vem sendo ampliado, porém somente como forma de triagem, pois não há forma validada de estabelecer a atividade específica da enzima. A utilização de sangue em papel filtro tem diversas vantagens, tais como: fácil transporte, fácil armazenagem das amostras, menor volume de reação e segurança de manipulação das amostras. Esse estudo tem como objetivo validar técnicas fluorimétricas para o estabelecimento da atividade específica da GBA e QT em sangue impregnado em papel filtro eluido com tampão universal (20 mmol/L de fosfato de sódio, pH 7,0) através da correção do volume amostral pela quantificação de proteínas totais. Além disso, foram miniaturizadas as técnicas padrão para a triagem em SPF e as técnicas confirmatórias padrão ouro em leucócitos da DG. Foram estabelecidos novos valores de referência para todas as técnicas estabelecidas. Foi possível diferenciar os controles saudáveis dos pacientes com DG utilizando as técnicas miniaturizadas em SPF e leucócitos. A atividade específica em SPF se mostrou valida e os coeficientes de variação foram considerados aceitáveis. A estabilidade enzimática foi analisada por 21 dias de armazenamento a 4°C e foi observado que a há um decaimento da atividade da GBA, mas não da QT. Deste modo a atividade específica em SPF pode ser utilizada de forma confiável como método de triagem e confirmação do diagnóstico de DG.

Gaucher disease (GD) is the most frequent Lysosomal Storage Disorder with a prevalence of 1:50,000. It is caused by the deficiency of acid betaglucosidase (GBA), generating glucosylceramide (glucocerebroside) accumulation in the lysosomes. Another enzyme related to GD is chitotriosidase (CT), which activity is increased in patients up to 1000 times. Currently the diagnosis is based on the specific activity of enzymes in leukocytes or fibroblasts. The use of dried blood spots (DBS) has been extended, but only as screening, because there is no validated specific activity of the enzymes. The use of DBS has several advantages, such as easy transport and easy storage of samples, smaller reaction volume and safety of handling samples. This study aims to validate fluorometric techniques for establishing specific activity of the GBA and CT in DBS eluted with universal buffer (20 mmol/L sodium phosphate, pH7.0) by correcting for sample volume quantification of total protein. Moreover, standard screening techniques in DBS and standard diagnosis techniques in leukocytes for GD have been miniaturized. New reference values and cut-off points were established for all techniques. It…

Advisors/Committee Members: Coelho, Janice Carneiro.

Subjects/Keywords: Doença de Gaucher; Dried-blood filter paper; Sangue; Gaucher Disease; Beta-glucosidase; Técnicas e procedimentos diagnósticos; Hidrolases; Chitotriosidase; Beta-glicosidase; Quitotriosidase

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Goldim, M. P. d. S. (2012). Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/49005

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Goldim, Mariana Pereira de Souza. “Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher.” 2012. Thesis, Universidade do Rio Grande do Sul. Accessed January 20, 2021. http://hdl.handle.net/10183/49005.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Goldim, Mariana Pereira de Souza. “Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher.” 2012. Web. 20 Jan 2021.

Vancouver:

Goldim MPdS. Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2012. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10183/49005.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Goldim MPdS. Validação das técnicas fluorimétricas para estabelecimento da atividade específica da beta-glicosidase e quitotriosidase de sangue impregnado em papel filtro para o diagnóstico da doença de Gaucher. [Thesis]. Universidade do Rio Grande do Sul; 2012. Available from: http://hdl.handle.net/10183/49005

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Sul

9. Doneda, Divair. Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil.

Degree: 2010, Universidade do Rio Grande do Sul

URL: http://hdl.handle.net/10183/25128

► INTRODUÇÃO: A doença de Gaucher (DG) é um erro inato do metabolismo, do grupo das doenças lisossômicas, causado pela atividade deficiente da enzima glicocerebrosidase. Os… (more)

▼ INTRODUÇÃO: A doença de Gaucher (DG) é um erro inato do metabolismo, do grupo das doenças lisossômicas, causado pela atividade deficiente da enzima glicocerebrosidase. Os tipos mais comuns da DG são o tipo I, que é o mais freqüente e não apresenta comprometimento neurológico; o II, agudo e neuropático; e o III, subagudo e neuropático. Todos os tipos caracterizam-se pela heterogeneidade clínica, com manifestações sintomáticas e de intensidade distintas, tais como hepatoesplenomegalia, alterações ósseas e hematológicas. Alguns estudos descrevem alterações metabólicas como gasto energético basal (GEB) aumentado – hipermetabolismo - em pacientes sem tratamento. A terapia de escolha para a DG é a reposição enzimática (TRE), a qual consegue reverter muitas das manifestações da doença. OBJETIVOS: 1) Avaliar o GEB por meio de calorimetria indireta em pacientes com DG do Centro de Referência do Rio Grande do Sul; 2) Avaliar o estado nutricional dos pacientes incluídos no estudo; 3) Relacionar o GEB com as condições clínicas dos pacientes. METODOLOGIA: Estudo transversal, prospectivo, controlado. Os pacientes atendidos no CRDG foram convidados a participar do estudo (n= 29), sendo que 17 concordaram (média de idade= 30,0 ± 17,2 anos, sexo masculino= 8; DG tipo III= 3 pacientes). Os pacientes com DG tipo I (n= 14; sexo masculino= 6) foram pareados por sexo, idade e índice de massa corporal (IMC) com controles hígidos para avaliação do GEB. Para determinação dos valores de VO2 e VCO2 foi utilizado um ergoespirômetro (MedGraphics Cardiorespiratory Diagnostic Systems, modelo CPX-D). Os pacientes e os controles receberam orientação prévia quanto ao jejum e o repouso e no dia da calorimetria foram pesados e medidos, sendo então calculado o IMC. Os pacientes não apresentavam outras morbidades, nem estavam em uso de medicamentos que poderiam interferir no GEB. Nas análises estatísticas, foi utilizado o GEB em kcal/kg/dia. RESULTADOS: A avaliação do estado nutricional revelou que, no grupo dos pacientes com DG tipo I, cinco estavam com sobrepeso e os demais eutróficos; no grupo com DG tipo III, dois pacientes encontravam-se desnutridos e um eutrófico. Foram realizadas 19 avaliações do GEB em 17 pacientes: dois pacientes a realizaram no período pré e após 6 meses de TRE. A média de idade e de IMC dos pacientes com DG tipo I e dos controles foi de 32,8 ± 17,6 e 32,1 ± 16,6 anos e 23,3 ± 3,1 e 22,4 ± 3,1kg/m2, respectivamente. A idade dos pacientes com DG tipo III foi, respectivamente, 12, 17 e 20 anos. Quatorze pacientes estavam recebendo TRE (média de tempo de TRE= 6,6 ± 5,3 anos; média de dose de enzima= 27,1 ± 11,7 UI/kg/inf. de imiglucerase). A média de GEB dos pacientes com DG tipo I em TRE (n= 12) foi 27,1% maior do que a dos controles (p= 0,007). O GEB de pacientes em TRE (n=12) comparado aos sem TRE (n= 4) não apresentou diferença (p= 0,92). Comparando o GEB dos pacientes em TRE e o de seus controles com o GEB estimado pela equação de Harris-Benedict, observou-se que os pacientes apresentaram GEB 6,3% maior do que o estimado… Advisors/Committee Members: Schwartz, Ida Vanessa Doederlein.

Subjects/Keywords: Gaucher disease; Doença de Gaucher; Estado nutricional; Nutritional status; Metabolismo energetico; Energy metabolism; Indirect calorimetry; Calorimetria indireta

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Doneda, D. (2010). Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil. (Thesis). Universidade do Rio Grande do Sul. Retrieved from http://hdl.handle.net/10183/25128

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Doneda, Divair. “Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil.” 2010. Thesis, Universidade do Rio Grande do Sul. Accessed January 20, 2021. http://hdl.handle.net/10183/25128.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Doneda, Divair. “Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil.” 2010. Web. 20 Jan 2021.

Vancouver:

Doneda D. Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil. [Internet] [Thesis]. Universidade do Rio Grande do Sul; 2010. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10183/25128.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Doneda D. Doença de gaucher : avaliação nutricional e do gasto energético basal em pacientes do sul do brasil. [Thesis]. Universidade do Rio Grande do Sul; 2010. Available from: http://hdl.handle.net/10183/25128

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Norte

10. Chaves, Rigoberto Gadelha. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .

Degree: 2011, Universidade do Rio Grande do Norte

URL: http://repositorio.ufrn.br/handle/123456789/13345

► Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due… (more)

Subjects/Keywords: Doença de Gaucher; Rastreamento; Diagnóstico; β; -glicosidase ácida; Coleta de amostras sanguíneas; Gaucher disease; Screening; Diagnosis; Glucocerebrosidase; Dried blood spots

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chaves, R. G. (2011). Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . (Thesis). Universidade do Rio Grande do Norte. Retrieved from http://repositorio.ufrn.br/handle/123456789/13345

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .” 2011. Thesis, Universidade do Rio Grande do Norte. Accessed January 20, 2021. http://repositorio.ufrn.br/handle/123456789/13345.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .” 2011. Web. 20 Jan 2021.

Vancouver:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . [Internet] [Thesis]. Universidade do Rio Grande do Norte; 2011. [cited 2021 Jan 20]. Available from: http://repositorio.ufrn.br/handle/123456789/13345.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . [Thesis]. Universidade do Rio Grande do Norte; 2011. Available from: http://repositorio.ufrn.br/handle/123456789/13345

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Universidade do Rio Grande do Norte

11. Chaves, Rigoberto Gadelha. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .

Degree: 2011, Universidade do Rio Grande do Norte

URL: http://repositorio.ufrn.br/handle/123456789/13345

► Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due… (more)

Subjects/Keywords: Doença de Gaucher; Rastreamento; Diagnóstico; β; -glicosidase ácida; Coleta de amostras sanguíneas; Gaucher disease; Screening; Diagnosis; Glucocerebrosidase; Dried blood spots

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chaves, R. G. (2011). Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . (Masters Thesis). Universidade do Rio Grande do Norte. Retrieved from http://repositorio.ufrn.br/handle/123456789/13345

Chicago Manual of Style (16^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .” 2011. Masters Thesis, Universidade do Rio Grande do Norte. Accessed January 20, 2021. http://repositorio.ufrn.br/handle/123456789/13345.

MLA Handbook (7^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE .” 2011. Web. 20 Jan 2021.

Vancouver:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . [Internet] [Masters thesis]. Universidade do Rio Grande do Norte; 2011. [cited 2021 Jan 20]. Available from: http://repositorio.ufrn.br/handle/123456789/13345.

Council of Science Editors:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE . [Masters Thesis]. Universidade do Rio Grande do Norte; 2011. Available from: http://repositorio.ufrn.br/handle/123456789/13345

12. Willemsen, Rob. Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study.

Degree: 1995, Erasmus University Medical Center

URL: http://hdl.handle.net/1765/13738

Subjects/Keywords: Gaucher Disease; Ziekte van Gaucher; biochemics; immunology

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Willemsen, R. (1995). Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study. (Doctoral Dissertation). Erasmus University Medical Center. Retrieved from http://hdl.handle.net/1765/13738

Chicago Manual of Style (16^th Edition):

Willemsen, Rob. “Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study.” 1995. Doctoral Dissertation, Erasmus University Medical Center. Accessed January 20, 2021. http://hdl.handle.net/1765/13738.

MLA Handbook (7^th Edition):

Willemsen, Rob. “Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study.” 1995. Web. 20 Jan 2021.

Vancouver:

Willemsen R. Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study. [Internet] [Doctoral dissertation]. Erasmus University Medical Center; 1995. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1765/13738.

Council of Science Editors:

Willemsen R. Gaucher Disease: an Immunoelectron Microscopic and Biochemical Study. [Doctoral Dissertation]. Erasmus University Medical Center; 1995. Available from: http://hdl.handle.net/1765/13738

Universidade Estadual de Campinas

13. Toneloto, Carolina Franco de Souza, 1977-. Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease.

Degree: 2017, Universidade Estadual de Campinas

URL: http://repositorio.unicamp.br/jspui/handle/REPOSIP/322314

► Abstract: This thesis analyzed the experience with the Type 1 Gaucher through narratives, with the aim of exploring, from the point of view of the… (more)

▼ Abstract: This thesis analyzed the experience with the Type 1 Gaucher through narratives, with the aim of exploring, from the point of view of the sick people, the way this disease affects their lives, and the place that occupies in their biographies. The study also presents a review of the international literature about narration and chronic diseases. It is a qualitative research in health, that used theoretical references of the Phenomenology of Alfred Schütz, especially in the study of the knowledge arising from the Common Sense, and about the significant actions pointed out by the narrators in their experience with this illness; of the Socioanthropology, regarding the influence of the social and cultural environment on this experiences; and the use of narratives in health. The study is in the growing concern, both from Biomedicine and Social Sciences, with the long-term diseases. Gaucher Disease is a chronic, rare, hereditary and genetic disease. Because of its rarity, lack of knowledge and symptoms invisibility (when the patient is in health treatment), it acts in a dubious manner in the patients' lives: sometimes they accept they are ill, sometimes they refuses this labeling, thus determining the contours of their illness experiences, and also with their treatments (provided, in Brazil, by the Public Health System, SUS). The narratives were obtained through script based, semi-structured and in-depth interviews, applied to men and women diagnosed with Type 1 Gaucher Disease, over 18 years old, and living in the state of São Paulo. In the analysis of the narratives obtained, the following themes were explored: the genesis of illness; the aspects of life before the discovery of this disease, the moment of the diagnosis, and the presence of Gaucher Disease in daily life; and also three case studies. Such aspects from Gaucher Disease experiences could be captured and expressed in the illness narratives that presented original meanings and senses, as well as some similarities, especially in relation to some common experiences and ideas. The literature review about narration and chronic diseases was undertaken in the Lilacs and PubMed databases between January 2004 and December 2014. From this review, 161 results were identified. All abstracts were read and analyzed, but not all articles were entirely available to full reading. After applying the exclusion criteria, remained 4 articles in Lilacs and 69 in PubMed, which were analyzed through the Thematic Content Analysis regarding their themes, subtopics and theoretical and methodological references of the Social and Human Sciences used. Phenomenology, Hermeneutics, Symbolic Interactionism and Grounded Theory were identified, besides Content Analysis and Narrative Typologies. The result of this analysis showed the predominance of the use of narratives as instruments of interventions, and less as objects of theoretical and methodological reflections, a gap that demands to be filled Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Canesqui, Ana Maria, 1944- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Saúde Coletiva (nameofprogram), Nunes, Everardo Duarte (committee member), Castellanos, Marcelo Eduardo Pfeiffer (committee member), Barsaglini, Reni Aparecida (committee member), Campos, Rosana Onocko (committee member).

Subjects/Keywords: Narração; Acontecimentos que mudam a vida; Doenças Raras; Doença de Gaucher; Doença crônica; Narration; Life change events; Rare diseases; Gaucher disease; Chronic disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Toneloto, Carolina Franco de Souza, 1. (2017). Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/322314

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Toneloto, Carolina Franco de Souza, 1977-. “Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease.” 2017. Thesis, Universidade Estadual de Campinas. Accessed January 20, 2021. http://repositorio.unicamp.br/jspui/handle/REPOSIP/322314.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Toneloto, Carolina Franco de Souza, 1977-. “Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease.” 2017. Web. 20 Jan 2021.

Vancouver:

Toneloto, Carolina Franco de Souza 1. Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease. [Internet] [Thesis]. Universidade Estadual de Campinas; 2017. [cited 2021 Jan 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/322314.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Toneloto, Carolina Franco de Souza 1. Narrativas sobre a experiência com a doença de Gaucher: Narratives about the experience with Gaucher disease. [Thesis]. Universidade Estadual de Campinas; 2017. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/322314

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

14. Παπασιλέκας, Θεμιστοκλής. Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson.

Degree: 2013, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/41692

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Even though the exact pathogenesis of Parkinson’s disease remains unclear, accumulation and polymerization of a-synuclein, a low molecular weight neuronal protein, is believed to hold… (more)

▼

Even though the exact pathogenesis of Parkinson’s disease remains unclear, accumulation and polymerization of a-synuclein, a low molecular weight neuronal protein, is believed to hold a central role in the process. Our study focuses on a-synuclein homeostasis addressing the whole issue in three different levels: 1. Induction of Chaperone Mediated Autophagy in neuronal cells and investigation of its impact on a-synuclein’s half-life 2. Determination through Western blotting of a-synuclein levels in Red Blood Cells from Gaucher disease patients. 3. Assessment through microdialysis of extracellular a-synuclein presence in mouse and human brain parenchyma. Our results underline the importance of lysosomal degradation and secretion for a-synuclein’s metabolism. At the same time they provide evidence for the involvement of a-synuclein in the apparent correlation between Parkinson and Gaucher disease.

Αν και τα ακριβή αίτια της νόσου του Parkinson παραμένουν μέχρι και σήμερα άγνωστα, πρωταγωνιστικό ρόλο στην όλη διεργασία φαίνεται να παίζει η συσσώρευση και ο πολυμερισμός μίας μικρού μοριακού βάρους πρωτεΐνης, της α-συνουκλεΐνης. Η ομοιόσταση και ο έλεγχος των επιπέδων αυτής αποτέλεσαν το βασικό αντικείμενο της παρούσας έρευνας με το όλο θέμα να προσεγγίζεται τελικά σε τρία επιμέρους επίπεδα: 1. Eπαγωγή της διαμεσολαβούμενης από μοριακούς συνοδούς αυτοφαγίας (CMA) σε νευρωνικά κύτταρα και διερεύνηση της επίδρασης των χειρισμών αυτών στη ρύθμιση της α-συνουκλεΐνης. 2. Μελέτη μέσω ανοσοστύπωσης κατά Western των συνουκλεϊνικών επιπέδων σε ερυθροκυτταρικά δείγματα ασθενών με νόσο του Gaucher 3. Διερεύνηση με τη βοήθεια τεχνικών μικροδιύλησης της εξωκυττάριας παρουσίας μορίων α-συνουκλεϊνης στο εγκεφαλικό παρέγχυμα διαγονιδιακών για αυτήν μυών και ασθενών με κρανιοεγκεφαλική κάκωση. Τα αποτελέσματά μας αναδεικνύουν τη λυσοσωμική αποδόμηση αλλά και την έκκρισή της σε κεντρικές συνιστώσες των ομοιοστατικών μηχανισμών ελέγχου της α-συνουκλεΐνης, αναγάγοντας ταυτόχρονα αυτήν σε υποψήφιο μοριακό υπόστρωμα της παρατηρούμενης συσχέτισης ανάμεσα στη νόσο του Parkinson και σε αυτήν του Gaucher. Mέσα από τη μελέτη διαφορετικών πτυχών του μεταβολισμού της α-συνουκλεΐνης, η ερευνά μας καταδεικνύει την πολυπλοκότητα ενός φαινομένου του οποίου η διαλεύκανση προβάλλει ως απαραίτητη προϋπόθεση για την κατανόηση και θεραπεία του παρκινσονισμού.

Subjects/Keywords: Άλφα συνουκλεΐνη; Νόσος Parkinson; Συνουκλεϊνοπάθειες; Νευροεκφυλιστικά νοσήματα; Νόσος Gaucher; Λυσοσωμική αποδόμηση; Αυτοφαγία; Εξωκυττάρια άλφα συνουκλεΐνη; Alfa synuclein; Parkinson's disease; Synucleinopathies; Neurodegeneration; Gaucher disease; Lysosomal degradation; Autophagy; Extracellular alfa synuclein

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Παπασιλέκας, . �. (2013). Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/41692

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Παπασιλέκας, Θεμιστοκλής. “Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson.” 2013. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed January 20, 2021. http://hdl.handle.net/10442/hedi/41692.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Παπασιλέκας, Θεμιστοκλής. “Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson.” 2013. Web. 20 Jan 2021.

Vancouver:

Παπασιλέκας �. Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2013. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10442/hedi/41692.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Παπασιλέκας �. Ρύθμιση των επιπέδων της α-συνουκλεΐνης, πρωτεΐνης η οποία ενέχεται στη νόσο του Parkinson. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2013. Available from: http://hdl.handle.net/10442/hedi/41692

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Univerzitet u Beogradu

15. Rodić, Predrag, 1976-. Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću.

Degree: Medicinski fakultet, 2019, Univerzitet u Beogradu

URL: https://fedorabg.bg.ac.rs/fedora/get/o:19250/bdef:Content/get

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medicina - hematologija / Medicine - Hematology

Gošeova bolest je oboljenje lizozoma kod kojeg je korelacija između genotipa i fenotipske ekspresije bolesti slaba te se… (more)

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medicina - hematologija / Medicine - Hematology

Gošeova bolest je oboljenje lizozoma kod kojeg je korelacija između genotipa i fenotipske ekspresije bolesti slaba te se samim tim ni težina bolesti ne može pouzdano predvideti. Citopatološke promene u ovoj bolesti nisu izazvane samo nakupljanjem nerazgrađenog glikolipida, već i aktivacijom makrofaga, a koncentracije različitih citokina, važnih za proces inflamacije, su povišene u serumu ovih bolesnika. Takođe, nekoliko studija u literaturi navode dokaze o povećanoj incidenciji hematoloških komplikacija u bolesnika sa Gošeovom bolešću, uključujući monoklonsku i poliklonsku gamapatiju i hematološke malignitete, a posebno multipli mijelom. U kohorti naših bolesnika u Srbiji je ranije već opisana visoka incidencija rearanžmana gena za teški lanac imunoglobulina, što sugeriše da se aktivacija imunskog sistema može javiti relativno rano tokom bolesti. Predmet rada istraživanja ove studije je bila analiza uticaja klonskog rearanžmana gena za teški lanac imunoglobulina i/ili prisustva pojedinih alela gena koji kodiraju molekule važne u inflamaciji (TNFα, IL-10 i IL-6) na težinu kliničke slike obolelih od Gošeove bolesti. Materijal i metod: U ovu kohortnu studiju su bili uključeni pacijenti oboleli od Gošeove bolesti u Srbiji koji su u periodu od 2008 – 2016. godine lečeni na Klinici za hematologiju i Klinici za endokrinologiju, dijabetes i bolesti metabolizma Kliničkog centra Srbije, u Beogradu, kao i Klinici za hematologiju Kliničkog centra u Nišu. Kriterijumi za isključenje iz studije su bili: odbijanje pacijenta da učestvuje u studiji, smrt pacijenta ili emigracija u druge države. Kontrolna grupa za poređenje učestalosti ispitivanih polimorfnih genotipova za citokinske gene je bila selektovana iz baze DNK uzoraka Laboratorije za imunologiju Instituta za Mikrobiologiju i imunologiju. Svaki od ispitanika je detaljno obavešten o cilju studije i potpisao je dobrovoljan pristanak za učestvovanje u njoj. Iz uzoraka pune venske krvi je vršena izolacija DNK, a detekcija i analiza polimorfizama citokinskih gena TNF, IL10 i IL6 je vršena metodom Real-time PCR, u Laboratoriji za imunologiju Instituta za mikrobiologiju i imunologiju Medicinskog fakulteta Univerziteta u Beogradu...

Advisors/Committee Members: Janić, Dragana, 1955-.

Subjects/Keywords: Gaucher disease; IGH rearrangement; B cell clonality; gammopathy; hypergammaglobulinemia; multiple myeloma; cytokines; single nucleotide polymorphism

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Rodić, Predrag, 1. (2019). Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:19250/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Rodić, Predrag, 1976-. “Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću.” 2019. Thesis, Univerzitet u Beogradu. Accessed January 20, 2021. https://fedorabg.bg.ac.rs/fedora/get/o:19250/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Rodić, Predrag, 1976-. “Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću.” 2019. Web. 20 Jan 2021.

Vancouver:

Rodić, Predrag 1. Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću. [Internet] [Thesis]. Univerzitet u Beogradu; 2019. [cited 2021 Jan 20]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:19250/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Rodić, Predrag 1. Uticaj klonalnosti B limfocita i polimorfizama gena za citokine na težinu kliničke slike i pojavu monoklonske gamapatije u bolesnika sa Gošeovom bolešću. [Thesis]. Univerzitet u Beogradu; 2019. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:19250/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cincinnati

16. Mahan, Farrah R, B.A. Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease.

Degree: MS, Medicine: Genetic Counseling, 2018, University of Cincinnati

URL: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

► Gaucher Disease (GD) is an autosomal recessive inherited lysosomal storage disease that can cause symptoms such as hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and… (more)

▼ Gaucher Disease (GD) is an autosomal recessive inherited lysosomal storage disease that can cause symptoms such as hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and crises. Treatment is primarily through enzyme replacement therapy or substrate reduction therapy. While most physicians show concern with improving visceral and hematologic symptoms, patients report interest in decreasing fatigue and pain, which has an effect on quality of life. Observed abnormalities in cytokine secretion in GD patients have been shown. Excess cytokines are known to cause tissue damage, bone remodeling, and increased inflammation. Generalized joint hypermobility (GJH) is characterized by joint laxity and increased joint range, and has also been seen to affect levels of both pain and fatigue. Physical therapy is the recommended treatment. This study investigated the relationship in patients with GD between chronic pain, residual fatigue, and GJH. Focused on patients at CCHMC who have GD Type 1, participants performed a Beighton Score and five-part questionnaire to meet diagnostic criteria for GJH. The Brief Pain Inventory (BPI) and Fatigue Severity Scale (FSS) were used to assess levels of pain and fatigue. Therapeutic goals and the Disease Severity Scoring System (DS3) were used to evaluate treatment goals and disease involvement. Through our collection of data, we found 33% of our population of 12 participants met GJH criteria. Of those with GJH, 50% expressed moderate pain severity and 25% reported moderate pain interference, compared to 12.5% and 0% of those without GJH for severity and interference, respectively. Similarly, 50% of participants with GJH reported severe fatigue as well as 50% of participants without GJH. These findings were not statistically significant. However, there was a strong positive correlation between reported values of pain severity, pain interference, and fatigue. Patients tended to report higher levels of one value if they reported higher levels of another. Participants were found to meet a median of 96.3% of Gaucher-related therapeutic goals. In those with GJH versus those without GJH, 50% and 57.1%, respectively, were categorically assessed as having a “mild disease” involvement. Associations were not statistically significant. The goal of the study was to determine if patients with GD who have GJH experience more pain and fatigue than those who do not have GJH. Current literature supports that 2-57% of the general population has GJH, while our study found 25% of our population. We did not see a significant change in the levels of pain and fatigue between the two groups of participants, but the study did reinforce that those who report higher levels of pain severity and interference also report high levels of fatigue, regardless of a GJH diagnosis. With that in mind, someone with high levels of pain may also need to have anticipatory management for fatigue. Our patients were also well-managed and met many therapeutic goals, which may account for the levels of pain and fatigue reported.… Advisors/Committee Members: Neilson, Derek (Committee Chair).

Subjects/Keywords: Genetics; Gaucher Disease; Generalized Joint Hypermobility; Pain; Fatigue; Fatigue Severity Scale; Brief Pain Inventory

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Mahan, Farrah R, B. A. (2018). Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

Chicago Manual of Style (16^th Edition):

Mahan, Farrah R, B A. “Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease.” 2018. Masters Thesis, University of Cincinnati. Accessed January 20, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918.

MLA Handbook (7^th Edition):

Mahan, Farrah R, B A. “Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease.” 2018. Web. 20 Jan 2021.

Vancouver:

Mahan, Farrah R BA. Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease. [Internet] [Masters thesis]. University of Cincinnati; 2018. [cited 2021 Jan 20]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918.

Council of Science Editors:

Mahan, Farrah R BA. Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease. [Masters Thesis]. University of Cincinnati; 2018. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

17. Rigoberto Gadelha Chaves. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE.

Degree: 2011, Universidade Federal do Rio Grande do Norte

URL: http://bdtd.bczm.ufrn.br/tedesimplificado//tde_busca/arquivo.php?codArquivo=4813

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A doença de Gaucher (DG) é uma patologia de depósito de gordura nos lisossomos, de herança autossômica recessiva, caracterizada pelo acúmulo do substrato glicosilceramida, principalmente… (more)

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A doença de Gaucher (DG) é uma patologia de depósito de gordura nos lisossomos, de herança autossômica recessiva, caracterizada pelo acúmulo do substrato glicosilceramida, principalmente nas células do sistema reticuloendotelial, em razão da deficiência da enzima β-glicosidase ácida (GBA). O diagnóstico, comumente, é feito pela dosagem da atividade da GBA em leucócitos periféricos. Tabuleiro do Norte (TN), Ceará, Brasil, é um município com cerca de 28.000 habitantes com a prevalência da DG de 1:4.000 habitantes, possivelmente a mais elevada do Brasil. O objetivo da dissertação é avaliar o rastreamento para DG realizado em TN com base na análise das atividades enzimáticas da GBA e da quitotriosidase em amostras Sangue Seco em Papel de Filtro (SSPF). Entre 01 de junho de 2007 a 31 de maio de 2008, 740 indivíduos residentes e descendentes de famílias de TN participaram do rastreamento para DG a partir de amostras de SSPF. Indivíduos com atividade GBA<2,19 nmol/h/mL foram selecionados para análise da atividade da GBA e da quitotriosidase em leucócitos periféricos e no plasma, respectivamente. Os indivíduos com maiores riscos de DG (atividade de GBA em leucócitos periféricos <5,6 nmol/h/mg de proteína) foram referenciados para análise molecular para confirmação diagnóstica. A triagem com amostras de SSPF identificou 135 indivíduos (18,2%) com atividade da GBA<2,19 nmol/h/mL, dos quais 131 permaneceram no estudo. Em dez destes (7,6%), a atividade da GBA em leucócitos variou de 2,6-5,5 nmol/ h/mg de proteína, considerados suspeitos da DG. A análise molecular subsequente revelou, entretanto, que se tratava de seis indivíduos heterozigotos para a mutação G377S e, em quatro deles, não foram identificadas mutações da DG. A análise enzimática de amostras de SSPF mostrou ser uma estratégia eficaz de triagem da DG em populações com alto risco, mas a medida da atividade da GBA em leucócitos deve ser realizada para confirmação diagnóstica. O diagnóstico de DG em indivíduos assintomáticos não deve ser firmado baseando-se apenas na análise da atividade da GBA em leucócitos, sendo necessária, também, a confirmação diagnóstica pela análise molecular

Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency of the enzyme acid β-glucosidase (GBA). Diagnosis is usually based on measurement of GBA activity in peripheral leukocytes. The purpose of this study was to evaluate the ability of screening for GBA and chitotriosidase activity using Dried Blood Spots on Filter Paper (DBS-FP) to identify individuals at high risk for GD in high-risk populations such as that of Tabuleiro do Norte, a small town in Northeastern Brazil. Methods. Between June 1, 2007 and May 31, 2008, 740 consented residents and descendants of traditional families from Tabuleiro do Norte were submitted to screening with DBS-FP. Subjects with GBA activity <2.19 nmol/h/mL were referred to analysis of GBA and…

Advisors/Committee Members: Aldo da Cunha Medeiros, Geraldo Barroso Cavalcanti Júnior, Ana Maria Martins Bin.

Subjects/Keywords: Doença de Gaucher; Rastreamento; Diagnóstico; β; -glicosidase ácida; Coleta de amostras sanguíneas; CIENCIAS DA SAUDE; Gaucher disease; Screening; Diagnosis; Glucocerebrosidase; Dried blood spots

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chaves, R. G. (2011). Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE. (Thesis). Universidade Federal do Rio Grande do Norte. Retrieved from http://bdtd.bczm.ufrn.br/tedesimplificado//tde_busca/arquivo.php?codArquivo=4813

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE.” 2011. Thesis, Universidade Federal do Rio Grande do Norte. Accessed January 20, 2021. http://bdtd.bczm.ufrn.br/tedesimplificado//tde_busca/arquivo.php?codArquivo=4813.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Chaves, Rigoberto Gadelha. “Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE.” 2011. Web. 20 Jan 2021.

Vancouver:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE. [Internet] [Thesis]. Universidade Federal do Rio Grande do Norte; 2011. [cited 2021 Jan 20]. Available from: http://bdtd.bczm.ufrn.br/tedesimplificado//tde_busca/arquivo.php?codArquivo=4813.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Chaves RG. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE. [Thesis]. Universidade Federal do Rio Grande do Norte; 2011. Available from: http://bdtd.bczm.ufrn.br/tedesimplificado//tde_busca/arquivo.php?codArquivo=4813

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

18. Zamoner, Luis Otavio Bunhotto. Síntese de imunoaçúcares modificados e avaliação da atividade biológica.

Degree: Mestrado, Produtos Naturais e Sintéticos, 2012, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/60/60138/tde-21052012-103516/ ;

►

Glucosidases são enzimas que catalisam a hidrólise de ligações glicosídicas liberando unidades monossacarídicas de um terminal não redutor de um oligossacarídeo ou glicoconjugado. Iminoaçúcares são… (more)

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Glucosidases são enzimas que catalisam a hidrólise de ligações glicosídicas liberando unidades monossacarídicas de um terminal não redutor de um oligossacarídeo ou glicoconjugado. Iminoaçúcares são alcalóides piperidínicos polihidroxilados isolados de plantas (gênero Morus) e microrganismos (Bacillus), como nojirimicina (NJ) (1) e 1-desoxinojirimicina (DNJ) (2), os quais são descritos como inibidores de glucosidase. O potencial uso destes inibidores no tratamento de infecções virais, crescimento tumoral, metástases, diabetes, doença de Gaucher e osteoartrite tem motivado a comunidade científica na busca por novos derivados iminoaçúcares. Desse modo, a síntese de pseudodissacarídeos, contendo ambos resíduos de iminoaçúcar e glicopiranose, constitui uma estratégia interessante de obtenção desses derivados, apesar dos desafios envolvidos na geração da ligação entre estes dois açúcares. Por esta razão, foi utilizada a estratégia de click chemistry como uma ferramenta para introduzir uma ponte de grupo 1,2,3-triazol entre os açúcares a partir do acoplamento de azido-glicosídeo com N-propargil-iminoaçúcar. Desta forma, a síntese do iminoaçúcar N-propargílico (73), com função acetileno terminal, foi realizada em cinco etapas e foi usado na reação de cicloadição 1,3- dipolar com três derivados glicosídicos contendo grupo azido nas posições anomérica (C-1), C-3 ou C-6. A partir desta reação CuAAC (Copper(I)-catalyzed Azide-Alkyne Cycloaddition), três novos pseudo-dissacarídeos (77, 81 e 85) foram sintetizados em rendimentos moderados e foram, então, avaliados em ensaios de - D-glucosidase isolada de Sacharomyces cerevisiae. Nestes testes preliminares, o composto 77 foi o mais ativo, o qual foi capaz de inibir a atividade da enzima em 40% a 1mM. Esses resultados encorajam a realização de novos experimentos, principalmente, a determinação de Ki e avaliação da atividade relativa à replicação do vírus HIV. Portanto, a obtenção destes pseudodissacarídeos trouxe uma contribuição importante no que diz respeito à química de carboidratos e também ao tratamento das doenças citadas.

Glucosidases are enzymes that catalyze the hydrolysis of glycosidic bonds releasing monosaccharide units from a non-reducing end of an oligosaccharide or glycoconjugate. Iminosugars are polihydroxilate piperidinic alkaloids isolated from plants (Morus alba) and microorganisms (Bacillus), such as nojirimicin (NJ) (1) and 1- deoxynojirimicin (2), which are described as glucosidase inhibitors. The potential use of these inhibitors in the treatment of viral infection, tumoral growing, metastasis, diabetes, Gaucher´s disease and osteoarthritis has stimulated the scientific community on the search for novel iminosugar derivatives. Thereby, the synthesis of pseudodisaccharides, having both iminosugar and glycopyranose residues, represents an interesting strategy to obtain these derivatives, despite the challenges involved in generating the link between these two sugars. For this reason, we have used click chemistry as a tool to introduce a 1,2,3-triazole bridge…

Advisors/Committee Members: Carvalho, Ivone.

Subjects/Keywords: click chemistry; click chemistry; CuAAC; CuACC; diabetes mellitus; diabetes mellitus; doença de Gaucher; Gaucher´s disease; glucosidase inhibitor; HIV; HIV; iminoaçúcar; iminosugar; inibidor de glucosidase; pseudo-disaccharide; pseudodissacarídeo

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Zamoner, L. O. B. (2012). Síntese de imunoaçúcares modificados e avaliação da atividade biológica. (Masters Thesis). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/60/60138/tde-21052012-103516/ ;

Chicago Manual of Style (16^th Edition):

Zamoner, Luis Otavio Bunhotto. “Síntese de imunoaçúcares modificados e avaliação da atividade biológica.” 2012. Masters Thesis, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/60/60138/tde-21052012-103516/ ;.

MLA Handbook (7^th Edition):

Zamoner, Luis Otavio Bunhotto. “Síntese de imunoaçúcares modificados e avaliação da atividade biológica.” 2012. Web. 20 Jan 2021.

Vancouver:

Zamoner LOB. Síntese de imunoaçúcares modificados e avaliação da atividade biológica. [Internet] [Masters thesis]. University of São Paulo; 2012. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/60/60138/tde-21052012-103516/ ;.

Council of Science Editors:

Zamoner LOB. Síntese de imunoaçúcares modificados e avaliação da atividade biológica. [Masters Thesis]. University of São Paulo; 2012. Available from: http://www.teses.usp.br/teses/disponiveis/60/60138/tde-21052012-103516/ ;

19. Τσαφταρίδης, Παναγιώτης. Η νόσος Gaucher στην Ελλάδα.

Degree: 2007, University of Ioannina; Πανεπιστήμιο Ιωαννίνων

URL: http://hdl.handle.net/10442/hedi/20952

►

Gaucher disease was initially described in 1882 by the French dermatologist Charles Ernest Gaucher. It is a rare lysosomal storage disease caused by the enzyme… (more)

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Gaucher disease was initially described in 1882 by the French dermatologist Charles Ernest Gaucher. It is a rare lysosomal storage disease caused by the enzyme deficiency of glycocerebrosidase. Gaucher disease is inherited in an autosomal recessive manner. There are 3 subtypes of the disease according to age at onset, presence of neurological manifestations and clinical course. The diagnosis of Gaucher disease is based on the determination of glycocerebrosidase activity and is confirmed by molecular studies. Treatment approaches include supportive care, enzyme replacement therapy (ERT), substrate reduction therapy (SRT) or even allogeneic stem cell transplantation. In Greece there are 78 recorded cases of Gaucher disease (41 males and 37 females), including 69 Greek and 9 foreign patients. Among them, 70 (90%) had type 1,2 (3%) type 2 and 6 (8%) type 3 Gaucher disease. We studied 42 patients with respect to their genotype, clinical and laboratory features and response to treatment. Baseline laboratory parameters (complete blood count, serum lactate dehydrogenase, serum transaminase, ACP, chitotriosidase, serum immunoglobulin subclasses) did not differ significantly between patients who did or did not receive treatment. In a longitudinal study of the same parameters during ERT with imiglucerase, we observed improvement in the value of HgB, WBC, PLT, ACP and chito, which, however, was statistically significant only for ACP and chito value. All patients had hepatosplenomegaly. After 5 years of ERT there was a significant decrease of hepatosplenomegaly by 30% and 40% respectively. Patients with type 1 disease had no neurological manifestations, while all 4 studied patients with type 3 disease had neurological abnormalities. All patients reported bone pain, which resolved in those who received ERT. No abnormal imaging bone findings were recorded in 29% of the patients. Among patients with type 1 Gaucher disease who received ERT, 17% had objective improvement in abnormal imaging bone findings. A single patient had abnormal lung findings, while no cardiovascular symptoms or signs were recorded. Imiglucerase replacement therapy was offered in 28 patients (15 males and 13 females), all of whom experienced improvement in the quality of life. The initial dose was 60 IU/Kg every 2 weeks, which was reduced soon after treatment initiating; three, type 3, patients are in a dose of 120 IU/Kg every 2 weeks, because of neurological abnormalities (with significant improvement) or bone lesions. Two successful pregnancies were recorded in women undergoing ERT. Two patients received SRT with N-butyldeoxynojirimycin. Unfortunately there is no central registration of patients with Gaucher disease in Greece. A referral center, which could define the need of extensive follow-up and treatment is mandatory, particularly concentrate the need of lifelong therapy, which is extremely expensive. The wide spectrum of the problems of patients with Gaucher disease is faced by the Greek Gaucher and other Lysosomal Disorders “Solidarity”.

Η πρώτη…

Subjects/Keywords: Νόσος Gaucher; Επιδημιολογία; Κλινικοεργαστηριακά ευρήματα; Θεραπεία; Κοινωνικά προβλήματα; Gaucher disease; ERT; SRT

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Τσαφταρίδης, . �. (2007). Η νόσος Gaucher στην Ελλάδα. (Thesis). University of Ioannina; Πανεπιστήμιο Ιωαννίνων. Retrieved from http://hdl.handle.net/10442/hedi/20952

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Τσαφταρίδης, Παναγιώτης. “Η νόσος Gaucher στην Ελλάδα.” 2007. Thesis, University of Ioannina; Πανεπιστήμιο Ιωαννίνων. Accessed January 20, 2021. http://hdl.handle.net/10442/hedi/20952.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Τσαφταρίδης, Παναγιώτης. “Η νόσος Gaucher στην Ελλάδα.” 2007. Web. 20 Jan 2021.

Vancouver:

Τσαφταρίδης �. Η νόσος Gaucher στην Ελλάδα. [Internet] [Thesis]. University of Ioannina; Πανεπιστήμιο Ιωαννίνων; 2007. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10442/hedi/20952.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Τσαφταρίδης �. Η νόσος Gaucher στην Ελλάδα. [Thesis]. University of Ioannina; Πανεπιστήμιο Ιωαννίνων; 2007. Available from: http://hdl.handle.net/10442/hedi/20952

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

20. Chipeaux, Caroline. Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease.

Degree: Docteur es, Chimie, 2019, Université Paris-Saclay (ComUE)

URL: http://www.theses.fr/2019SACLS419

► Chez l’homme, les erreurs innées du métabolisme des lipides sont dues à des déficits enzymatiques, entraînant une accumulation intracellulaire de substrats lipidiques. Il en résulte… (more)

▼ Chez l’homme, les erreurs innées du métabolisme des lipides sont dues à des déficits enzymatiques, entraînant une accumulation intracellulaire de substrats lipidiques. Il en résulte un large éventail de symptômes tels que des atteintes viscérales, osseuses et dans certains cas neurologiques. En outre, de nombreux patients atteints de ce type de maladie présentent des anomalies hématologiques et vasculaires attribuées à des anomalies rhéologiques du globule rouge (GR). Ces observations ont conduit à l’hypothèse de l’existence d’un lien entre les propriétés anormales du GR et sa composition lipidique. Or actuellement, le profil lipidique du GR normal reste méconnu. Cependant, le diagnostic précoce de ces troubles est d’une importance capitale pour la prise en charge des patients, notamment dans les cas où un traitement correctif est disponible. La maladie de Gaucher (MG) de type 1, qui est une maladie lysosomale caractérisée par un déficit en β-glucocérébrosidase et pour laquelle un traitement enzymatique substitutif (ERT) est proposé, en est le meilleur exemple. D’où l’intérêt de disposer d’un outil simple et rapide de diagnostic de ce type de maladie.Dans le cas de la MG, le diagnostic repose encore sur la mise en évidence, laborieuse, du déficit enzymatique. Néanmoins, des travaux récents suggèrent que les anomalies rhéologiques du GR pourraient être dues à l’accumulation de quatre sphingolipides, le glucosylcéramide, la glucosylsphingosine, la sphingosine et la sphingosine-1-phosphate, qui seraient de bons candidats biomarqueurs. Or, les méthodes actuelles de dosage de ces sphingolipides nécessitent au moins deux étapes chromatographiques, avec pour chacune une étape longue et fastidieuse de préparation de l’échantillon, ce qui ne facilite guère une approche lipidomique de ce sujet. En outre, seul le glucosylcéramide a été dosé dans le GR tandis que les trois autres sphingolipides n’ont été dosés que dans le plasma. Ces candidats biomarqueurs restent donc à valider.Dans cette thèse, nous avons développé et validé une méthode simple et rapide, par UHPLC-MS/MS, de dosage simultané des 4 sphingolipides impliqués dans la MG. L’application de cette méthode à des GR provenant de patients atteints de la MG, en collaboration avec l’Institut National de Transfusion Sanguine et la société Shire, nous a permis de : 1- valider un biomarqueur parmi les quatre proposés et de montrer que les trois autres n’étaient pas suffisamment spécifiques ; 2- vérifier l’efficacité du traitement ERT actuellement proposé et 3- confirmer l’hypothèse de départ reliant les anomalies rhéologiques du GR à sa composition lipidique.De même, une étude systématique des conditions opératoires nous a permis de généraliser la méthode proposée à l’identification et au dosage de l’ensemble des sphingolipides présents dans un GR ainsi que des phospholipides, constituants majoritaires de sa membrane. Appliquée à la quantification simultanée d’une trentaine de sphingolipides et de phospholipides dans le GR normal et celui de la MG, cette méthode nous a permis… Advisors/Committee Members: Héron, Sylvie (thesis director).

Subjects/Keywords: Lipidomique; UHPLC-MS/MS; Erreurs innées du métabolisme; Maladie de Gaucher; Globules rouges; Biomarqueurs; Lipidomics; UHPLC-MS/MS; Inborn errors of metabolism; Gaucher disease; Red blood cells; Biomarkers

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Chipeaux, C. (2019). Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease. (Doctoral Dissertation). Université Paris-Saclay (ComUE). Retrieved from http://www.theses.fr/2019SACLS419

Chicago Manual of Style (16^th Edition):

Chipeaux, Caroline. “Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease.” 2019. Doctoral Dissertation, Université Paris-Saclay (ComUE). Accessed January 20, 2021. http://www.theses.fr/2019SACLS419.

MLA Handbook (7^th Edition):

Chipeaux, Caroline. “Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease.” 2019. Web. 20 Jan 2021.

Vancouver:

Chipeaux C. Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease. [Internet] [Doctoral dissertation]. Université Paris-Saclay (ComUE); 2019. [cited 2021 Jan 20]. Available from: http://www.theses.fr/2019SACLS419.

Council of Science Editors:

Chipeaux C. Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher : Research and validation of red blood cell lipid biomarkers based on liquid chromatography-tandem mass spectrometry. Application to the diagnosis and monitoring of Gaucher disease. [Doctoral Dissertation]. Université Paris-Saclay (ComUE); 2019. Available from: http://www.theses.fr/2019SACLS419

Universitat de Barcelona

21. Serra Vinardell, Jenny. Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher.

Degree: 2015, Universitat de Barcelona

URL: http://hdl.handle.net/10803/328708

► La enfermedad de Gaucher (GD) forma parte de un conjunto de enfermedades que reciben el nombre de "enfermedades de acumulo lisosómico". La GD es la… (more)

▼ La enfermedad de Gaucher (GD) forma parte de un conjunto de enfermedades que reciben el nombre de "enfermedades de acumulo lisosómico". La GD es la más prevalente y en la mayoría de los casos es debida a mutaciones en el gen GBA1 que codifica la enzima glucocerebrosidasa (GBA1) la cual hidroliza, principalmente el esfingolípido glucosilceramida (GlcCer) en glucosa y ceramida. En la GD ésta enzima presenta una actividad deficiente y la GlcCer se acumula en los lisosomas de los macrófagos formando las células Gaucher. La GD es una patología autosómica recesiva e incluye 3 subtipos clínicos, en función de la presencia y el grado de las manifestaciones neurológicas: tipo 1 (GD1; no neurológica), tipo 2 (GD2; neurológica aguda), y tipo 3 (GD3; neurológica subaguda). La GD1 se caracteriza por presentar problemas viscerales, hematológicos y óseos. La patofisiología de las manifestaciones óseas de la GD1 es poco conocida pero parece ser que las células Gaucher, el sistema inmunológico y las células óseas juegan un papel importante. De todas las aproximaciones terapéuticas para el tratamiento de la GD, la terapia de substitución enzimática (ERT) es la más habitual, pero en los últimos 10 años la terapia con chaperones farmacológicas ha resultado ser una buena opción para mejorar el plegamiento y el transporte de aquellos enzimas mutados que lo requieren. El trabajo que se presenta en ésta tesis doctoral ha permitido identificar algunos productos que presentan una buena capacidad de aumentar la actividad de algunas glucerebrosidasas mutadas y actuar por lo tanto como chaperonas farmacológicas. Además, se ha elaborado un modelo mesenquimal y osteoblástico de la GD1 en el que se está evaluando la implicación de la deficiente actividad de la enzima GBA1 en la diferenciación osteoblástica y, indirectamente, en la activación de la formación de los osteoclastos. Advisors/Committee Members: Universitat de Barcelona. Facultat de Biologia, [email protected] (authoremail), false (authoremailshow), Grinberg Vaisman, Daniel Raúl (director), Vilageliu i Arqués, Lluïsa (director), Vilageliu i Arqués, Lluïsa (tutor), true (authorsendemail).

Subjects/Keywords: Malaltia de Gaucher; Enfermedad de Gaucher; Gaucher's disease; Xaperones moleculars; Chaperonas moleculares; Molecular chaperones; Farmacologia; Farmacología; Pharmacology; Osteoblast; Osteoblasto; Ciències Experimentals i Matemàtiques; 616

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Serra Vinardell, J. (2015). Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher. (Thesis). Universitat de Barcelona. Retrieved from http://hdl.handle.net/10803/328708

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Serra Vinardell, Jenny. “Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher.” 2015. Thesis, Universitat de Barcelona. Accessed January 20, 2021. http://hdl.handle.net/10803/328708.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Serra Vinardell, Jenny. “Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher.” 2015. Web. 20 Jan 2021.

Vancouver:

Serra Vinardell J. Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher. [Internet] [Thesis]. Universitat de Barcelona; 2015. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10803/328708.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Serra Vinardell J. Generació d'un model cel·lular osteoblàstic i aproximacions terapèutiques per a la malaltia de Gaucher. [Thesis]. Universitat de Barcelona; 2015. Available from: http://hdl.handle.net/10803/328708

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

22. Uemura, Norihito. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す.

Degree: 博士(医学), 2015, Kyoto University / 京都大学

URL: http://hdl.handle.net/2433/200441 ; http://dx.doi.org/10.14989/doctor.k19178

新制・課程博士

甲第19178号

医博第4020号

Subjects/Keywords: Parkinson's disease; Gaucher disease; alpha-synuclein; glucocerebrosidase; medaka

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Uemura, N. (2015). Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す. (Thesis). Kyoto University / 京都大学. Retrieved from http://hdl.handle.net/2433/200441 ; http://dx.doi.org/10.14989/doctor.k19178

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Uemura, Norihito. “Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す.” 2015. Thesis, Kyoto University / 京都大学. Accessed January 20, 2021. http://hdl.handle.net/2433/200441 ; http://dx.doi.org/10.14989/doctor.k19178.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Uemura, Norihito. “Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す.” 2015. Web. 20 Jan 2021.

Vancouver:

Uemura N. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す. [Internet] [Thesis]. Kyoto University / 京都大学; 2015. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/2433/200441 ; http://dx.doi.org/10.14989/doctor.k19178.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Uemura N. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein : 生存可能な神経型ゴーシェ病モデルメダカは軸索にアルファシヌクレイン蓄積を示す. [Thesis]. Kyoto University / 京都大学; 2015. Available from: http://hdl.handle.net/2433/200441 ; http://dx.doi.org/10.14989/doctor.k19178

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

23. Uemura, Norihito. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein .

Degree: 2015, Kyoto University

URL: http://hdl.handle.net/2433/200441

Subjects/Keywords: Parkinson's disease; Gaucher disease; alpha-synuclein; glucocerebrosidase; medaka

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Uemura, N. (2015). Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein . (Thesis). Kyoto University. Retrieved from http://hdl.handle.net/2433/200441

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Uemura, Norihito. “Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein .” 2015. Thesis, Kyoto University. Accessed January 20, 2021. http://hdl.handle.net/2433/200441.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Uemura, Norihito. “Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein .” 2015. Web. 20 Jan 2021.

Vancouver:

Uemura N. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein . [Internet] [Thesis]. Kyoto University; 2015. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/2433/200441.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Uemura N. Viable neuronopathic Gaucher disease model in medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein . [Thesis]. Kyoto University; 2015. Available from: http://hdl.handle.net/2433/200441

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Texas Medical Center

24. Wagner, Victoria. No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease.

Degree: MS, 2016, Texas Medical Center

URL: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/654

► Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).… (more)

Subjects/Keywords: Gaucher disease; treatment options; health related quality of life; substrate reduction therapy; enzyme replacement therapy; Medical Genetics; Medicine and Health Sciences

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Wagner, V. (2016). No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease. (Thesis). Texas Medical Center. Retrieved from https://digitalcommons.library.tmc.edu/utgsbs_dissertations/654

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Wagner, Victoria. “No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease.” 2016. Thesis, Texas Medical Center. Accessed January 20, 2021. https://digitalcommons.library.tmc.edu/utgsbs_dissertations/654.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Wagner, Victoria. “No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease.” 2016. Web. 20 Jan 2021.

Vancouver:

Wagner V. No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease. [Internet] [Thesis]. Texas Medical Center; 2016. [cited 2021 Jan 20]. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/654.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Wagner V. No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease. [Thesis]. Texas Medical Center; 2016. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/654

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Freie Universität Berlin

25. Henning, Karen. Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern.

Degree: 2014, Freie Universität Berlin

URL: https://refubium.fu-berlin.de/handle/fub188/13245

► Morbus Gaucher gehört zu den seltenen lysosomalen Speicherkrankheiten und tritt bei 1 von 40.000–60.000 der allgemeinen Bevölkerung auf. Die Krankheit wird durch einen Defekt in… (more)

▼ Morbus Gaucher gehört zu den seltenen lysosomalen Speicherkrankheiten und tritt bei 1 von 40.000–60.000 der allgemeinen Bevölkerung auf. Die Krankheit wird durch einen Defekt in der Aktivität des lysosmalen Enzyms β-Glukozerebrosidase hervorgerufen. Drei unterschiedliche klinische Typen sind bekannt und beschrieben worden. Bei Typ I (nicht-neuronopathisch), der am Häufigsten auftritt, ist ausschließlich das periphere Nervensystem involviert. Die Patienten zeigen eine Vielfalt an Symptomen, jedoch äußern sich eine Organvergrößerung der Milz und Leber, sowie Anämie häufig. Bei den Morbus Gaucher Typen II (akut neuronopathisch) und III (chronisch oder subakut neuronopathisch) ist sowohl das periphere, als auch das zentrale Nervensystem involviert. In Typ II, dem verheerendsten der drei Typen, manifestiert sich die Krankheit bereits in den ersten 3-6 Monaten nach der Geburt und die Patienten sterben innerhalb ihrer ersten 2-3 Lebensjahre. Typ III tritt später als Typ II auf und die Patienten überleben bis in ihre 30er / 40er Jahre. Über 250 Mutationen wurden im Gen der β-Glukozerebrosidase beschrieben, daher ist eine direkte Genotyp-Phänotyp Korrelation, wie in den meisten lysosmalen Speicherkrankheiten, nicht möglich. Bis dato, waren die therapeutischen Versuche Morbus Gaucher zu heilen nicht erfolgsversprechend. Die Therapie die mittlerweile am häufigsten zum Einsatz kommt, ist die Enzymersatztherapie für Typ I. Bei Typ II und III führt diese Therapie zu keinen Verbesserungen, da das rekombinante Enzym die Blut-Hirn-Schranke nicht passieren kann. In den letzten Jahren wurden einige Versuche unternommen um Enzyme, wie die β-Glukozerebrosidase über die Blut-Hirn-Schranke zu bringen und den Zellen im Gehirn zu präsentieren. Bis heute waren diese Versuche ohne Erfolg. Daher war das Ziel der vorliegenden These, die Etablierung und Optimierung eines Adeno- assoziierten viralen Gentransfers der β-Glukozerebrosidase in organotypische Hirnschnittkulturen, die den Typ II des Morbus Gaucher wiederspiegeln. Die K14 -lnl-Mäuse, die in dieser Studie charakterisiert wurden, zeigten die typischen Symptome der Krankheit des akut neuronopathischen Typen. Die homozygoten (knockout) Mäuse wiesen eine signifikant reduzierte Aktivität der Glukozerebrosidase im Gehirn, verglichen mit der Aktivität im Gehirn ihrer gesunden Geschwistertiere auf. Des Weiteren konnte der Verlust von Nervenzellen und eine Astrogliose im Gehirn der K14-Knoukout-Mäuse histologisch nachgewiesen werden. Außerdem wurde ein Vektor kloniert, der die β-Glukozerebrosidase unter der Kontrolle des CMV-Promoters exprimieren soll. Die GCase-Aktivität und -Expression wurde erfolgreich durch die Transfektion primärer Neuronenkulturen von K14-ko-Mäusen und Fibroblasten von M.G. Patienten mit dem klonierten Vektor unter CMV Kontrolle und einem Vektor unter Kontrolle des CAG-Promoters nachgewiesen. Danach wurden AAV2 virale Partikel verpackt, entweder mit einem der Vektoren, die die β-Glukozerebrosidase epxrimieren oder LacZ. Für die Etablierung kortikaler organotypischer… Advisors/Committee Members: [email protected] (contact), w (gender), Prof. Dr. Thomas Georg Ohm (firstReferee), Prof. Dr. Burghardt Wittig (furtherReferee).

Subjects/Keywords: Gaucher's disease; AAV; gene therapy; neuronopathic Gaucher; 500 Naturwissenschaften und Mathematik; 600 Technik, Medizin, angewandte Wissenschaften

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Henning, K. (2014). Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern. (Thesis). Freie Universität Berlin. Retrieved from https://refubium.fu-berlin.de/handle/fub188/13245

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Henning, Karen. “Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern.” 2014. Thesis, Freie Universität Berlin. Accessed January 20, 2021. https://refubium.fu-berlin.de/handle/fub188/13245.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Henning, Karen. “Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern.” 2014. Web. 20 Jan 2021.

Vancouver:

Henning K. Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern. [Internet] [Thesis]. Freie Universität Berlin; 2014. [cited 2021 Jan 20]. Available from: https://refubium.fu-berlin.de/handle/fub188/13245.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Henning K. Adeno-assoziierter viraler Gentransfer, um den zellulären Phänotyp kortikaler organotypischer Hirnschnittkulturen von Morbus Gaucher Typ II-Mäusen zu verhindern. [Thesis]. Freie Universität Berlin; 2014. Available from: https://refubium.fu-berlin.de/handle/fub188/13245

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

26. Fu, Tingting. Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease.

Degree: MSEgr, Industrial and Human Factors Engineering, 2012, Wright State University

URL: http://rave.ohiolink.edu/etdc/view?acc_num=wright1344791797

► Gaucher disease (GD) is a monogenic disorder with autosomal recessive inheritance, which results from an acid lysosomal hydrolase, the beta-glucocerebrosidase deficiency. Clinical manifestations of the… (more)

▼ Gaucher disease (GD) is a monogenic disorder with autosomal recessive inheritance, which results from an acid lysosomal hydrolase, the beta-glucocerebrosidase deficiency. Clinical manifestations of the disease include anemia, thrombocytopenia, hepatosplenomegaly, and skeletal complications. Enzyme replacement therapy (ERT) has been used to treat type 1 GD for more than a decade, and many patients have shown remarkable clinical responses to the treatment, with normalization of blood counts, reduction in liver and spleen size, and improvement in bone symptoms. Many researchers have tried to study the effectiveness of ERT, but previous research has been mainly based on some predetermined hypotheses and traditional analysis methods, which assumed some statistical distributions of the underlying data. In addition, studies have suggested significant individual differences in patients' bone mineral density (BMD) responses to ERT. In this project, we used non-parametric regression tree methods to analyze the BMD data of patients with type 1 GD, in combination with other potentially relevant parameters, including patients' demographics, hematological, visceral, and bone manifestations, to define a parameter subspace that explains the patients' BMD response. Models have been derived for the patient's initial dual-energy X-ray absorptiometry (DXA) Z-score, the rate of change of the patient's DXA Z-scores from his/her first infusion to the current DXA assessment visit, and the rate of change of the patient's DXA Z-scores between two consecutive DXA assessment visits. Modeling results suggest that the patient's initial DXA Z-score is affected by his/her region, treatment with bisphosphonates, gender, and the period between the patient's first infusion and first DXA visit date. The rate of change of the patient's DXA Z-scores from his/her first infusion to the current DXA assessment visit is mostly related to the patient's region, initial DXA Z-score, and ethnicity. In addition, the most predictive covariate of the rate of change of the patient's DXA Z-scores between two consecutive DXA assessment visits is the patient's immediately previous DXA Z-score. Advisors/Committee Members: Liu, Yan (Advisor).

Subjects/Keywords: Engineering; Gaucher disease; Enzyme replacement therapy

…Is Gaucher Disease? Gaucher disease (GD) is a monogenic disorder with autosomal… …marked improvements in visceral and skeletal pathology of patients with Gaucher disease. 2-4… …the Responses of GD-Related Bone Disease to ERT… …creating engorged macrophages (Gaucher cells), which displace normal tissue and result… …in dysfunction in many organs. Clinical manifestations of the disease include anemia…

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APA (6^th Edition):

Fu, T. (2012). Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease. (Masters Thesis). Wright State University. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=wright1344791797

Chicago Manual of Style (16^th Edition):

Fu, Tingting. “Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease.” 2012. Masters Thesis, Wright State University. Accessed January 20, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=wright1344791797.

MLA Handbook (7^th Edition):

Fu, Tingting. “Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease.” 2012. Web. 20 Jan 2021.

Vancouver:

Fu T. Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease. [Internet] [Masters thesis]. Wright State University; 2012. [cited 2021 Jan 20]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=wright1344791797.

Council of Science Editors:

Fu T. Use of Exploratory Data-Mining Techniques to Analyze Associations between Bone-Mineral Density and Relevant Clinical Parameters of Gaucher Disease. [Masters Thesis]. Wright State University; 2012. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=wright1344791797

27. Spitz, Mariana. Mutações da glicocerebrosidade em pacientes com doença de Parkinson.

Degree: PhD, Neurologia, 2006, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05022007-123329/ ;

► Introdução: A doença de Parkinson é uma enfermidade neurodegenerativa decorrente da perda de neurônios dopaminérgicos na substância negra, principalmente, e em outras regiões cerebrais. Caracteriza-se… (more)

▼ Introdução: A doença de Parkinson é uma enfermidade neurodegenerativa decorrente da perda de neurônios dopaminérgicos na substância negra, principalmente, e em outras regiões cerebrais. Caracteriza-se clinicamente por tremor, rigidez, bradicinesia e instabilidade postural. O tratamento é sintomático e consiste essencialmente na reposição da dopamina deficiente. A etiologia da doença de Parkinson ainda não é conhecida, mas os recentes avanços da Neurologia trouxeram novos conhecimentos acerca dos mecanismos fisiopatológicos envolvidos. Disfunção mitocondrial, estresse oxidativo e degradação de proteínas são alguns dos processos celulares que foram relacionados à degeneração dos neurônios dopaminérgicos. O campo da genética da doença de Parkinson tem recebido atenção especial na última década, graças à descoberta de vários genes associados ao desenvolvimento da doença. Um fator de risco genético recentemente descrito é a presença de mutações no gene da glicocerebrosidase, uma enzima lisossomal cuja deficiência resulta na doença de Gaucher. Apesar de a maioria dos estudos já publicados terem confirmado esta associação, um trabalho mais recente da Noruega não encontrou significância estatística ao analisar a presença destas mutações em pacientes com doença de Parkinson, tornando o assunto ainda controverso. Objetivo: Pesquisar a presença de mutações da glicocerebrosidase em pacientes com diagnóstico de doença de Parkinson no Brasil, acompanhados no ambulatório de Distúrbios do Movimento do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo e correlacionar tais achados com estudos recém-publicados que analisaram esta associação em outras populações em âmbito mundial, além de descrever possíveis características dos pacientes portadores de mutações que os diferenciem de não portadores. Métodos: Foram incluídos no estudo 65 pacientes com o diagnóstico de doença de Parkinson e idade de início da doença inferior ou igual a 55 anos e 267 controles sem a doença, emparelhados para sexo e idade. Foi realizada análise genética de material obtido a partir de raspagem da mucosa oral destes indivíduos, tendo sido pesquisadas as três mutações da glicocerebrosidase mais comuns na população brasileira: N370S, L444P e G377S. Resultados: Em dois dos 65 pacientes e em nenhum dos 267 controles foram identificadas mutações no gene da glicocerebrosidase. Os dois pacientes carreadores de mutações (L444P em um e L444P + E326K em outro) apresentavam quadro clínico indistinguível dos demais pacientes com doença de Parkinson não portadores das mutações. Conclusões: Foi observada uma associação estatisticamente significativa (P=0,0379, teste exato de Fisher) entre doença de Parkinson e mutações da glicocerebrosidase na nossa população. A prevalência de mutações da glicocerebrosidase neste grupo de pacientes foi maior do que a esperada para a população geral, porém menor do que a encontrada em estudos internacionais previamente publicados. Espera-se que a identificação desta nova associação permita uma maior compreensão dos… Advisors/Committee Members: Barbosa, Egberto Reis.

Subjects/Keywords: Doença de Gaucher; Doença de Parkinson/Genética; Gaucher disease; Glucosilceramidase; Glucosylceramidase; Parkinson disease/genetics

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Spitz, M. (2006). Mutações da glicocerebrosidade em pacientes com doença de Parkinson. (Doctoral Dissertation). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05022007-123329/ ;

Chicago Manual of Style (16^th Edition):

Spitz, Mariana. “Mutações da glicocerebrosidade em pacientes com doença de Parkinson.” 2006. Doctoral Dissertation, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05022007-123329/ ;.

MLA Handbook (7^th Edition):

Spitz, Mariana. “Mutações da glicocerebrosidade em pacientes com doença de Parkinson.” 2006. Web. 20 Jan 2021.

Vancouver:

Spitz M. Mutações da glicocerebrosidade em pacientes com doença de Parkinson. [Internet] [Doctoral dissertation]. University of São Paulo; 2006. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05022007-123329/ ;.

Council of Science Editors:

Spitz M. Mutações da glicocerebrosidade em pacientes com doença de Parkinson. [Doctoral Dissertation]. University of São Paulo; 2006. Available from: http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05022007-123329/ ;

28. Rozenberg, Roberto. "Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil".

Degree: PhD, Biologia (Genética), 2006, University of São Paulo

URL: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-27092006-154138/ ;

►

Este estudo descreve a análise molecular de pacientes da doença de Gaucher (DG) e Tay-Sachs (DTS) no Brasil. Foram estudados nove casos de formas clássicas… (more)

▼

Este estudo descreve a análise molecular de pacientes da doença de Gaucher (DG) e Tay-Sachs (DTS) no Brasil. Foram estudados nove casos de formas clássicas da DTS que mostraram uma prevalência da mutação IVS7+1g>c, já descrita em pacientes Portugueses e dez casos das variantes de início juvenil e tardio da DTS, mostrando heterogeneidade genética. Nos casos da variante B1, percebeu-se uma maior incidência da mutação R178H, também descrita previamente em pacientes Portugueses. A presença das mesmas mutações nos casos Brasileiros e Portugueses se deve provavelmente à ancestralidade comum. Uma família com quatro pacientes da variante de início tardio da DTS mostrou uma extensa variabilidade clínica intrafamilial e identificou relevantes aspectos do diagnóstico e das implicações dos programas de triagem populacional. A análise por RFLP de nove mutações causadoras da DG, em 262 pacientes permitiu detectar 76% das alterações e mostrou uma prevalência das mutações N370S e L444P, similar à descrita em diversas outras populações. Os pacientes com variantes neuronopáticas da doença apresentaram uma alta freqüência da mutação G377S, que também é encontrada em pacientes Portugueses. Os pacientes apresentando a G377S indicaram a existência de um provável mecanismo de efeito de dose alélica para essa mutação. Foi observada uma alta freqüência de alelos resultantes da recombinação do gene GBA com seu pseudogene. Diversas outras relações genótipo-fenótipo puderam ser verificadas, mostrando uma baixa penetrância do genótipo N370S/N370S e corroborando a importância do diagnóstico molecular da DG, devido a seu valor preditivo. A análise de mutações raras no gene GBA usando as técnicas de RFLP, dHPLC e seqüenciamento de DNA possibilitou detectar mutações em 84% dos alelos de 54 pacientes. Foram identificadas 14 novas mutações causadoras da DG. Diversas relações genótipo-fenótipo puderam ser verificadas, conferindo valor preditivo para a detecção dessas mutações. Por fim, a análise da associação da DG e da DP permitiu encontrar uma freqüência significativamente maior de portadores das principais mutações no gene GBA em pacientes parkinsonianos (2/65=3%), com aparecimento precoce da doença, comparados a um grupo controle de 267 indivíduos. Esse trabalho fornece nova evidência de que mutações no gene GBA são um raro, mas consistente fator de risco para a DP.

This study describes the molecular diagnosis of Gaucher (GD) and Tay-Sachs disease (TSD) patients in Brazil. Nine cases of the classic infantile form of TSD were analyzed disclosing a prevalence of the IVS7+1g>c mutation, described previously in Portuguese patients. Ten cases of juvenile and late-onset TSD forms were diagnosed showing genetic heterogeneity. Among the B1 variant cases, there was a predomenance of mutation R178H that was also associated to Portuguese ancestry. The presence of the same mutations in Brazilian and Portuguese cases are probably due to common ancestry. A family with 4 affected patients of late onset TSD showed and extensive intrafamilial clinical…

Advisors/Committee Members: Carramaschi, Lygia da Veiga Pereira.

Subjects/Keywords: diagnóstico molecular; doença de Gaucher; Doença de Tay-Sachs; Gaucher disease; molecular diagnosis; Tay-Sachs disease

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Rozenberg, R. (2006). "Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil". (Doctoral Dissertation). University of São Paulo. Retrieved from http://www.teses.usp.br/teses/disponiveis/41/41131/tde-27092006-154138/ ;

Chicago Manual of Style (16^th Edition):

Rozenberg, Roberto. “"Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil".” 2006. Doctoral Dissertation, University of São Paulo. Accessed January 20, 2021. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-27092006-154138/ ;.

MLA Handbook (7^th Edition):

Rozenberg, Roberto. “"Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil".” 2006. Web. 20 Jan 2021.

Vancouver:

Rozenberg R. "Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil". [Internet] [Doctoral dissertation]. University of São Paulo; 2006. [cited 2021 Jan 20]. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-27092006-154138/ ;.

Council of Science Editors:

Rozenberg R. "Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil". [Doctoral Dissertation]. University of São Paulo; 2006. Available from: http://www.teses.usp.br/teses/disponiveis/41/41131/tde-27092006-154138/ ;

Leiden University

29. Oussoren, S.V. Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease.

Degree: 2017, Leiden University

URL: http://hdl.handle.net/1887/55842

► This thesis describes biochemical investigations of glucocerebrosidase (GBA), the lysosomal β- glucosidase that is deficient in Gaucher disease (GD). Central in the performed research was… (more)

Subjects/Keywords: Gaucher disease; Glucocerebrosidase; Cathepsin; LIMP2; Glucosylceramide; Glucosylsphingosine; Activity based probes; Gaucher disease; Glucocerebrosidase; Cathepsin; LIMP2; Glucosylceramide; Glucosylsphingosine; Activity based probes

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Oussoren, S. V. (2017). Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease. (Doctoral Dissertation). Leiden University. Retrieved from http://hdl.handle.net/1887/55842

Chicago Manual of Style (16^th Edition):

Oussoren, S V. “Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease.” 2017. Doctoral Dissertation, Leiden University. Accessed January 20, 2021. http://hdl.handle.net/1887/55842.

MLA Handbook (7^th Edition):

Oussoren, S V. “Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease.” 2017. Web. 20 Jan 2021.

Vancouver:

Oussoren SV. Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease. [Internet] [Doctoral dissertation]. Leiden University; 2017. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/1887/55842.

Council of Science Editors:

Oussoren SV. Chemical biology of glucosylceramide metabolism fundamental studies and applications for Gaucher disease. [Doctoral Dissertation]. Leiden University; 2017. Available from: http://hdl.handle.net/1887/55842

30. Papadopoulos, Vasileios. The role of lysosome function in degradation of proteins that are associated with Parkinson's disease.

Degree: 2018, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ)

URL: http://hdl.handle.net/10442/hedi/44377

► Glucocerebrosidase gene (GBA1) mutations are the most common genetic contributor to Parkinson’s disease (PD). Moreover, mutations of GBA1 have been correlated with decreased activity of… (more)

▼ Glucocerebrosidase gene (GBA1) mutations are the most common genetic contributor to Parkinson’s disease (PD). Moreover, mutations of GBA1 have been correlated with decreased activity of the lysosomic enzyme glucocerebrosidase (GCase) in PD patients, while PD patients not carrying a GBA1 mutation also exhibit low enzymatic activity of GCase in the central nervous system. In total, it seems that the activity of this specific enzyme is an important factor in PD pathogenesis. The most plausible mechanism through which GBA1 mutations contribute to the risk of developing PD is an alteration of the lysosome pathway of protein degradation. α-Synuclein, a protein with a central role in PD pathogenesis, has been shown to be secreted extracellularly, both as a free form protein and in association with exosomes. A dysregulation of the endocytic pathway through the dysfunction of GCase could result in an alteration of exosome and exosome-associated α-synuclein secretion.The aim of this study was to examine whether manipulating GCase activity and form both in vivo and in vitro could affect α-synuclein accumulation and secretion.In the first part of this dissertation, four adenoviruses were constructed containing four different genes respectively; wild type (WT) GBA, mutant N370S GBA, mutant D409V GBA and a gene encoding for green fluorescent protein (GFP) as a positive control. The viruses were used to transduce primary cortical neuronal cultures acquired by embryonic mice dissection. The adenovirus-mediated overexpression of WT GCase resulted in a significant decrease of exosome secretion in vitro. Intracellular and extracellular α-Synuclein levels showed a trend of increase that was not statistically significant.In the second part of the dissertation, in new in vitro experiments, the contribution of the activity of GCase to α-synuclein levels was investigated by adding conduritol-B epoxide (CBE), a selective inhibitor of GCase, in the presence of adenovirus-mediated α-synuclein overexpression. A non-significant trend of increase of α-synuclein levels was observed in the presence of CBE inhibition.In the third part of the dissertation, in vivo experiments were performed. Transgenic mice heterozygous for the A53T mutation of the gene encoding for α-synuclein (SNCA) were chosen. In this PD model, a chronic inhibition of the GCase enzyme was achieved by intraperitoneal injections of CBE in specific time intervals. The scheme adopted allowed us to emulate the chronic enzymatic activity decrease of GCase in PD patients. The intracellular oligomeric form of α-synuclein was significantly increased in the mice that received the CBE inhibitor. More specifically, GCase inhibition resulted in profound increase of brain exosomes and oligomeric α-synuclein contained in exosomes. Followingly, in order to examine the role of mutant GCase in a chronic model of PD, adeno-associated viruses were used to overexpress mutant GCase in the striatum of A53T SNCA transgenic mice. Using microdialysis, we were able to measure secreted α-synuclein levels in…

Subjects/Keywords: Α-συνουκλεΐνη; Νόσος Πάρκινσον; Νόσος Γκοσέ; Εξωσώματα; Νευροεκφύλιση; Συνουκλεϊνοπάθειες; Λυσοσωμιακή αποικοδόμηση; Γλυκοσερεβροσιδάση; Εγκεφαλική διαπίδυση; A-synuclein; Parkinson's disease; Gaucher disease; Exosomes; Neurodegeneration; Synucleinopathies; Lysosomal degradation; Glucocerebrosidase; GBA; Brain microdialysis

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Papadopoulos, V. (2018). The role of lysosome function in degradation of proteins that are associated with Parkinson's disease. (Thesis). National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Retrieved from http://hdl.handle.net/10442/hedi/44377

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Papadopoulos, Vasileios. “The role of lysosome function in degradation of proteins that are associated with Parkinson's disease.” 2018. Thesis, National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ). Accessed January 20, 2021. http://hdl.handle.net/10442/hedi/44377.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Papadopoulos, Vasileios. “The role of lysosome function in degradation of proteins that are associated with Parkinson's disease.” 2018. Web. 20 Jan 2021.

Vancouver:

Papadopoulos V. The role of lysosome function in degradation of proteins that are associated with Parkinson's disease. [Internet] [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2018. [cited 2021 Jan 20]. Available from: http://hdl.handle.net/10442/hedi/44377.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Papadopoulos V. The role of lysosome function in degradation of proteins that are associated with Parkinson's disease. [Thesis]. National and Kapodistrian University of Athens; Εθνικό και Καποδιστριακό Πανεπιστήμιο Αθηνών (ΕΚΠΑ); 2018. Available from: http://hdl.handle.net/10442/hedi/44377

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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