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You searched for subject:(Osteocondrodisplasias). Showing records 1 – 2 of 2 total matches.

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Universidade Estadual de Campinas

1. Silveira, Karina da Costa, 1989-. O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias.

Degree: 2018, Universidade Estadual de Campinas

Abstract: The molecular investigation of the skeletal dysplasias, also known as osteochondrodysplasias (OCD), is critical for both the accuracy of diagnosis and genetic counseling. Although NGS (next-generation sequencing) techniques are currently the preferred methods for analyzing these conditions in clinical practice, the published results have not reported high diagnostic yield to date, nor a speculation regarding additional costs due to the Sanger sequencing (SS), required to the confirmation of the found pathogenic variants as well as to analyse regions insufficient covered, has been performed. Thus, the goals of the present study were to evaluate the use of NGS with a customized panel of genes in the OCD study using a cohort of patients evaluated by the local group of Skeletal Dysplasias. The cohort investigated included 88 patients with OCD previously diagnosed by clinical-radiological criteria, which were analyzed by different NGS panels. The sequencing was performed using three custom NGS (TSCA - TruSeq Custom Amplicon and Nextera by Illumina, and IT-Amp - Ion AmpliSeq by Life Technologies) with selected genes according to the patient's diagnosis or by frequency criterion in the case of IT-Amp. All the pathogenic variants found by both, the TSCA and IT-Amp techniques, were confirmed by SS. Likewise, the SS was used to complete the investigation of regions insufficiently covered by NGS. Seventy-four different mutations, of which 52 novel variants, were found in 61 (69.3%) patients. However, mutations found in two patients (in the PCYT1A and LIFR genes respectively), were only detected when the regions of low coverage were under investigation by SS. The pathogenic variant(s) could not be found in 27 (30.7%) patients. However, in at least 11 patients, the negative results can be explained by the genetic heterogeneity of the respective conditions. Considering only the main reagents, the estimated additional costs to complete the investigation of 36 patients evaluated by TSCA was 83%. In conclusion, the high positivity rate of this study is certainly related to the previous radiological diagnosis of the patients, as well as the use of SS for regions with insufficient coverage. The number of gene regions with low coverage suggests that the custom NGS techniques still need improvement. Finally, we estimate an increase of 83% for the initial value of NGS, and even with the additive, some cases remained without the diagnosis Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Cavalcanti, Denise Pontes, 1957- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Ciências Médicas (nameofprogram), Pogue, Robert Edward (committee member), Jorge, Alexander Augusto de Lima (committee member), Torres, Fabio Rossi (committee member), Sartorato, Edi Lúcia (committee member).

Subjects/Keywords: Osteocondrodisplasias; Doenças do desenvolvimento ósseo; Sequenciamento de nucleotídeos em larga escala; Osteochondrodysplasias; Bone diseases, Developmental; High-throughput nucleotide sequencing

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

APA (6th Edition):

Silveira, Karina da Costa, 1. (2018). O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/331711

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

Chicago Manual of Style (16th Edition):

Silveira, Karina da Costa, 1989-. “O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias.” 2018. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/331711.

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

MLA Handbook (7th Edition):

Silveira, Karina da Costa, 1989-. “O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias.” 2018. Web. 20 Oct 2020.

Vancouver:

Silveira, Karina da Costa 1. O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias. [Internet] [Thesis]. Universidade Estadual de Campinas; 2018. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/331711.

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

Council of Science Editors:

Silveira, Karina da Costa 1. O sequenciamento de alto desempenho no diagnóstico das displasias esqueléticas = The next-generation sequencing in the diagnosis of skeletal dysplasias: The next-generation sequencing in the diagnosis of skeletal dysplasias. [Thesis]. Universidade Estadual de Campinas; 2018. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/331711

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

2. Kanazawa, Thatiane Yoshie, 1988-. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.

Degree: 2018, Universidade Estadual de Campinas

Abstract: The osteochondrodysplasias (OCD) are genetic diseases that affect the growth and development of the chondro-osseous tissue leading to short stature, and body disproportion in several individuals, and contribute to the infant morbimortality. Around one-third of these conditions are lethal in the perinatal period, being thanatophoric dysplasia (TD) and lethal osteogenesis imperfecta (OI) the most frequent lethal-OCD. Some OCD in this group are extremely rare, present great clinical-radiological variability and used to be etiologically heterogeneous. Epidemiological information regarding the lethal-OCD is limited and outdated. The aim of this study was to perform a descriptive clinical-epidemiological study based on a local series of cases collected over 26 years. In addition, this study aimed to investigate the molecular bases of two fetuses with a novel phenotype by the whole exome sequencing (WES). The clinical data related to birth, prenatal, family, and clinical-radiological and molecular diagnoses were computed in a spreadsheet and analyzed descriptively. DNA samples from the two fetuses with the novel phenotype were submitted to the exome analysis with the trio approach for both families. In the period 1990 - 2016, a total of 131 fetuses with lethal-OCD evaluated and included in the present study. Among the patients born locally, the high prevalence [9.4 (CI = 7.40-11.79) per 10,000 births] found can be attributed to the bias of reference hospital. Prenatal diagnosis of skeletal dysplasia was performed in 80 cases (61.1%), however, this examination is still very imprecise regarding to reach the specific type of OCD. The high parental consanguinity rate (9.2%) found in this series of cases is, at least partially explained, by the origin of the families from the Brazilian Northeast. The most common groups and lethal phenotypes found were: the FGFR3 group [43 (32.8%)] mainly represented by DT-I [36 (83.7%)]; the OI group [33 (25.2%)] with OI-IIA [22 (66.7%)] as the most common; and the collagenopathies type 2 group [17 (13%)], being the achondrogenesis type II (ACG-II) [10 (58.8%)] the most frequent condition. Together these three groups represent 71% of the total patients. The remaining 38 cases (29%) are distributed in nine other groups. Of the total of 131 cases, 75 (57.3%) had molecular investigation, confirming the radiological diagnosis in 63 cases (84%). The analysis of the exome of the two cases with the novel phenotype was inconclusive. In conclusion, the epidemiological evaluation of the present case series shows a high prevalence of lethal OCD, but related to a bias because it is a reference hospital in the region. The main OCD found are DT-I (FGFR3 group), OI-IIA (OI group) and ACG-II (type 2 collagenopathies group). Although most cases of lethal OCD are suspected during pregnancy, prenatal diagnosis is too imprecise to identify the specific type of the OCD. The high rate of consanguinity found in the sample seems to be due to the origins of the families, most coming from the Brazilian… Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Cavalcanti, Denise Pontes, 1957- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Ciências Médicas (nameofprogram), Sanseverino, Maria Teresa Vieira (committee member), Vargas, Fernando Regla (committee member), Vieira, Andre Schwambach (committee member), Secolin, Rodrigo (committee member).

Subjects/Keywords: Osteocondrodisplasias; Doenças do desenvolvimento ósseo; Epidemiologia; Osteochondrodysplasias; Bone development diseases; Epidemiology

osteocondrodisplasias (OCD) compreendem um grande grupo de condições patológicas que acometem o… …dos anos 60, quando Maroteaux e Lamy mencionaram que “certos casos de osteocondrodisplasias… 

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

APA (6th Edition):

Kanazawa, Thatiane Yoshie, 1. (2018). Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713

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

Chicago Manual of Style (16th Edition):

Kanazawa, Thatiane Yoshie, 1988-. “Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.” 2018. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713.

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

MLA Handbook (7th Edition):

Kanazawa, Thatiane Yoshie, 1988-. “Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing.” 2018. Web. 20 Oct 2020.

Vancouver:

Kanazawa, Thatiane Yoshie 1. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. [Internet] [Thesis]. Universidade Estadual de Campinas; 2018. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713.

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

Council of Science Editors:

Kanazawa, Thatiane Yoshie 1. Avaliação das displasias esqueléticas letais e investigação das bases moleculares de um fenótipo inédito utilizando sequenciamento de alto desempenho: Evaluation of a local casuistry of lethal skeletal dysplasias and study of the molecular bases of an novel phenotype using high-performance sequencing. [Thesis]. Universidade Estadual de Campinas; 2018. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334713

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

.