Mutation Testing
Mostrando 1-12 de 248 artigos, teses e dissertações.
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1. Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
ABSTRACT Objective: The aim of this cross-sectional study was to estimate the prevalence of XLH in Paraná, a state in southern Brazil, and report the clinical features and complications of the disease. Materials and methods: We invited all endocrinologists (n = 205), nephrologists (n = 221), orthopedic surgeons (n = 1020), and pediatricians (n = 1000) in
Arch. Endocrinol. Metab.. Publicado em: 2020-12
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3. Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize
Arch. Endocrinol. Metab.. Publicado em: 29/07/2019
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4. Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules
ABSTRACT Objectives: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with clinicopathologic aspects and the BRAFV600E mutation. Sub
Arch. Endocrinol. Metab.. Publicado em: 21/03/2019
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5. Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
Abstract X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptomatology of heterozygotes depends on the inactivation pattern of X chromosome. Hyperammonemic episodes
J. inborn errors metab. screen.. Publicado em: 28/02/2019
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6. Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation
ABSTRACT OBJECTIVE: To analyze the cost effectiveness of the diagnostic program for the germline mutation in BRCA1/2 genes and of preventative strategies for the relatives of patients diagnosed with ovarian cancer associated with this mutation. METHODS: The study analyzed the cost effectiveness by developing an analysis of the Markov decision process from
Rev. Saúde Pública. Publicado em: 29/11/2018
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7. Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with
Braz J Med Biol Res. Publicado em: 01/03/2018
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8. Transmitted drug resistance in patients with acute/recent HIV infection in Brazil
Abstract Introduction: The widespread use of antiretroviral therapy increased the transmission of antiretroviral resistant HIV strains. Antiretroviral therapy initiation during acute/recent HIV infection limits HIV reservoirs and improves immune response in HIV infected individuals. Transmitted drug resistance may jeopardize the early goals of early antiret
Braz J Infect Dis. Publicado em: 2017-08
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9. Trends and predictors of HIV-1 acquired drug resistance in Minas Gerais, Brazil: 2002–2012
Abstract Several studies show that the prevalence of multidrug-resistant HIV-1 virus is declining over time. A retrospective cohort study was carried out to evaluate the trends of drug resistance in antiretroviral treatment-exposed individuals in a state of a middle-income country, Minas Gerais, southeast region of Brazil. We analyzed 2115 HIV-1 sequences fr
Braz J Infect Dis. Publicado em: 2017-03
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10. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil
Abstract In Brazil, breast cancer is a public health care problem due to its high incidence and mortality rates. In this study, we investigated the prevalence of hereditary breast cancer syndromes (HBCS) in a population-based cohort in Brazils southernmost capital, Porto Alegre. All participants answered a questionnaire about family history (FH) of breast, o
Genet. Mol. Biol.. Publicado em: 24/05/2016
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11. Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation
Abstract Germline TP53 mutations are associated with Li-Fraumeni syndrome (LFS), a disease that predisposes carriers to a wide variety of early onset tumors. In southern and southeastern Brazil, a high frequency of a germline TP53 mutation, p.R337H, was diagnosed in 0,3% of the population due to a founder effect. Carriers are at risk for developing cancer bu
Genet. Mol. Biol.. Publicado em: 24/05/2016
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12. A Forecasting Tool for Predicting Australia's Domestic Airline Passenger Demand Using a Genetic Algorithm
ABSTRACT: This study has proposed and empirically tested for the first time genetic algorithm optimization models for modelling Australia's domestic airline passenger demand, as measured by enplaned passengers (GAPAXDE model) and revenue passenger kilometres performed (GARPKSDE model). Data was divided into training and testing datasets; 74 training datasets
J. Aerosp. Technol. Manag.. Publicado em: 2015-12