Clinical Genetics
Mostrando 1-12 de 290 artigos, teses e dissertações.
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1. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Dysregulation in erythrocyte dynamics caused by SARS-CoV-2 infection: possible role in shuffling the homeostatic puzzle during COVID-19
Abstract Introduction The evolving COVID-19 pandemic became a hallmark in human history, not only by changing lifestyles, but also by enriching scientific knowledge on viral infection and its consequences. Objective Although the management of cardiorespiratory changes is pivotal to a favorable prognosis during severe clinical findings, dysregulation of oth
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Genetics of COVID-19
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
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4. What can we learn from measuring IgE to allergens and allergen components in tropical and subtropical settings in Brazil?
Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of thera
J. Pediatr. (Rio J.). Publicado em: 2021-08
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5. Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrosp
Sao Paulo Med. J.. Publicado em: 2021-05
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6. Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Abstract Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results. Source of data: Non-systematic literature review, searching for articles since 2000 on PubMed using the ter
J. Pediatr. (Rio J.). Publicado em: 2021-04
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7. Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics
RESUMO Educação em genética é fundamental para o entendimento dos aspectos biológicos do binômio saúde-doença. Além disso, com a mudança do perfil epidemiológico, as doenças com determinantes genéticos tornaram-se mais relevantes como problema de saúde pública. Assim, manejar estas doenças, tanto em pacientes como em suas famílias, de forma
Rev. bras. educ. med.. Publicado em: 13/01/2020
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8. Fabry disease: genetics, pathology, and treatment
SUMMARY Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosome
Rev. Assoc. Med. Bras.. Publicado em: 13/01/2020
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9. TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER
RESUMO Objetivo: Entre 100 crianças, não selecionadas, com diagnóstico de autismo, pelo menos 20 apresentam anomalias morfológicas, quase sempre associadas a síndromes. Não há no Brasil instrumento de exame físico morfológico padronizado e validado. O objetivo foi traduzir para o português do Brasil e adaptar culturalmente os sinais clínicos desc
Rev. paul. pediatr.. Publicado em: 13/01/2020
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10. Síndrome do desfiladeiro torácico: uma revisão narrativa.
RESUMO A Síndrome do Desfiladeiro Torácico (SDT) é causada pela compressão do plexo braquial, artéria subclávia e veia subclávia na região do desfiladeiro torácico. Estas estruturas podem ser comprimidas entre a clavícula e a primeira costela ou por um número de variações anatômicas. A compressão neurológica é a forma mais comum da síndrome
Rev. Col. Bras. Cir.. Publicado em: 20/12/2019
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11. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
Abstract Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other par
An. Bras. Dermatol.. Publicado em: 09/12/2019
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12. Acute pancreatitis and recurrent acute pancreatitis: an exploration of clinical and etiologic factors and outcomes,
RESUMO Objetivo: Descrever a epidemiologia e as características clínicas da pancreatite aguda e da pancreatite aguda recorrente em crianças. Métodos: Estudo observacional e retrospectivo com um componente analítico. Os pacientes foram classificados em dois grupos: pancreatite aguda e pancreatite recorrente. A relação com cada parâmetro obtido foi a
J. Pediatr. (Rio J.). Publicado em: 25/11/2019