Clinical Genetics
Mostrando 13-24 de 290 artigos, teses e dissertações.
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13. Aspectos genéticos do envelhecimento e doenças associadas: uma complexa rede de interações entre genes e ambiente
Resumo O envelhecimento é um processo dinâmico, no qual ocorrem modificações do nível molecular ao morfo-fisiológico, logo após a maturidade, que induzem ao declínio orgânico, aumentando a susceptibilidade e vulnerabilidade a doenças e à morte. A genética do envelhecimento dedica-se ao estudo da contribuição hereditária da espécie e sua inter
Rev. bras. geriatr. gerontol.. Publicado em: 24/10/2019
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14. Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Resumo A miocardiopatia dilatada (MCD) é uma síndrome caracterizada por dilatação ventricular esquerda e disfunção contrátil, sendo considerada a causa mais comum de insuficiência cardíaca em adultos jovens. O uso do sequenciamento de nova geração tem contribuído com a descoberta de uma grande quantidade de dados genômicos relacionados à MCD, i
Arq. Bras. Cardiol.. Publicado em: 02/09/2019
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15. Mucopolysaccharidosis: Caregiver Quality of Life
Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and fri
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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16. Clinical research challenges in rare genetic diseases in Brazil
Abstract Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world’s population. Research about the natural history and underlying pa
Genet. Mol. Biol.. Publicado em: 03/06/2019
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17. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínica
Arch. Endocrinol. Metab.. Publicado em: 13/05/2019
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18. The Parkinson's disease and restless legs syndrome/Willis-Ekbom disorder link: evidences, biases and clinical relevance
RESUMO A doença de Parkinson (DP) e a síndrome das pernas inquietas/doença de Willis-Ekbom (SPI/DWE) são doenças relativamente comuns no campo dos distúrbios do movimento. O fato de que ambas podem, como esperado, ocorrer de forma simultânea e usualmente apresentarem resposta favorável ao tratamento dopaminérgico levaram ao interesse em explorar car
Arq. Neuro-Psiquiatr.. Publicado em: 2019-01
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19. Precision Medicine: Changing the way we think about healthcare
Health care has changed since the decline in mortality caused by infectious diseases as well as chronic and non-contagious diseases, with a direct impact on the cost of public health and individual health care. We must now transition from traditional reactive medicine based on symptoms, diagnosis and treatment to a system that targets the disease before it o
Clinics. Publicado em: 03/12/2018
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20. The status of cryptococcosis in Latin America
Cryptococcosis is a life-threatening fungal infection caused by the encapsulated yeasts Cryptococcus neoformans and C. gattii, acquired from the environment. In Latin America, as occurring worldwide, C. neoformans causes more than 90% of the cases of cryptococcosis, affecting predominantly patients with HIV, while C. gattii generally affects otherwise health
Mem. Inst. Oswaldo Cruz. Publicado em: 05/04/2018
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21. The clinical genetics of phaeochromocytoma and paraganglioma
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours.
Arch. Endocrinol. Metab.. Publicado em: 2017-09
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22. Salivary protein polymorphisms and risk of dental caries: a systematic review
Abstract Dental caries is an oral pathology associated with both lifestyle and genetic factors. The caries process can be influenced by salivary composition, which includes ions and proteins. Studies have described associations between salivary protein polymorphisms and dental caries experience, while others have shown no association with salivary proteins g
Braz. oral res.. Publicado em: 05/06/2017
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23. The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil
Genet. Mol. Biol.. Publicado em: 03/06/2016
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24. Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital
Abstract The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the continental dimension of the country and its population. Therefore, at-risk patients do not receive appropriate as
Genet. Mol. Biol.. Publicado em: 13/05/2016