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1.
J. Health Biol. Sci. (Online) ; 10(1): 1-11, 01/jan./2022.
Article in Portuguese | LILACS | ID: biblio-1411584

ABSTRACT

Objetivos: Apresentar as características gerais da DH e os principais desafios encarados no cotidiano pelos portadores. Método: foi realizada uma revisão de literatura na qual foram considerados artigos científicos embasados em banco de dados (PubMed, Scielo, Lilacs e diretório Google Acadêmico), artigos entre anos de 2007 a 2022, publicados em todos os idiomas, e aplicados os seguintes descritores: Huntington's Disease Treatment; Genetics foram incluídos. Resultado: após a inclusão de 21 artigos utilizados, foi observado a significância de elevado índice mundial da DH, que acomete população em geral, porém há probabilidade que seja mais de herança paterna do que materna, devido à formação dos espermatozoides, principalmente quando se manifestam na fase juvenil de forma acelerada. Embora sejam desvendadas alternativas para terapia paliativa medicamentosa, há, também, a terapia física, o que auxilia a possibilidade de evolução na saúde desses indivíduos. Porém, prosseguem as pesquisas relacionadas às condutas melhores na qualidade de vida dessa população. Conclusão: Esta revisão evidencia a importância para doenças neurodegenerativas pouco vistas e comentadas, como a DH, mas que carece de esclarecimentos que auxiliem, com eficácia, tanto na recuperação, como no processo de habilidades da existência desses portadores com DH.


Objectives: to present the general characteristics of HD and the main challenges faced in daily life by patients. Method: a literature review was conducted in which scientific articles were considered based on databases (PubMed, Scielo, Lilacs, and Google Scholar directory), articles between 2007 and 2022, published in all languages, and the following descriptors were applied: Huntington's Disease Treatment; Genetics were included. Result: after the inclusion of 21 articles, it was observed the significance of the high worldwide HD index, which affects the general population, but there is a probability that it is more paternal than maternal inheritance due to sperm formation, especially when they manifest in the juvenile phase in an accelerated manner. Although alternatives for palliative drug therapy are unveiled, there is also physical therapy, which helps the possibility of evolution in the health of these individuals. However, the researches related to the best conducts in the quality of life of this population continue. Conclusion: this review highlights the importance of little-seen and commented neurodegenerative diseases, such as HD, but that lacks clarification that effectively assists, both in recovery and in the process of abilities of the existence of these patients with HD.


Subject(s)
Humans , Huntington Disease/physiopathology , Quality of Life , Activities of Daily Living/psychology , Huntington Disease/psychology
2.
Arq. neuropsiquiatr ; 69(4): 711-713, Aug. 2011. ilus
Article in English | LILACS | ID: lil-596842

ABSTRACT

The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.


Os autores apresentam uma revisão histórica sobre a magistral contribuição clínica do Professor Américo Negrette, neurologista venezuelano, na evolução do conhecimento científico sobre a doença de Huntington.


Subject(s)
History, 20th Century , History, 21st Century , Humans , Huntington Disease/history , Neurology/history , Venezuela
3.
Gac. méd. Méx ; 144(3): 271-273, mayo-jun. 2008.
Article in Spanish | LILACS | ID: lil-568060

ABSTRACT

La enfermedad de Huntington es un padecimiento neurológico degenerativo, de herencia autosómica dominante, causado por una expansión CAG que codifica una secuencia de poliglutamina en la proteína huntingtina. Su frecuencia varía de cinco a 10 afectados por 100 mil individuos en población caucásica. Clínicamente muestra manifestaciones motoras, cognoscitivas, psicológicas y muerte en 10 a 15 años. Avances concretos se han logrado en el conocimiento del mecanismo mutacional, alteraciones del producto proteico y su efecto neuropatológico. Un conjunto de procedimientos como PCR con o sin modificación del ADN, Southern blot y métodos mixtos son analizados en sus características y eficiencia para el diagnóstico molecular de esta enfermedad.


Huntington's disease (HD) is a neurological degenerative disorder, inherited by an autosomal dominant mode, and caused by a CAG triplet expansion coding for a poly-glutamine sequence in the huntingtin protein. HD affects 5-10 in 100,000 individuals from Caucasian population. Clinically patients display motor, cognitive and psychological impairment, and death within 10-15 years. Concrete advances have been achieved in the knowledge of the mutational mechanism, alteration of the protein product and their neuropathological effects. A number of tests such as PCR with or without DNA modification, Southern blot and mixed methods are analyzed. We describe their characteristics and effectiveness for the molecular diagnosis of HD.


Subject(s)
Humans , Huntington Disease/diagnosis , Huntington Disease/genetics , Molecular Diagnostic Techniques
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