RESUMO -Objetivo:Descrever o perfil clínico e laboratorial de pacientes com atrofia muscular espinhal (AME) com deleção no gene da proteína sobrevivência do neurônio motor (SMN). Método: Estudo descritivo de uma série de casos confirmados pela presença da deleção no gene SMN. Determinação da freqüência da positividade dos critérios clínicos e laboratoriais revisados. R e s u l t a d o s : Foram incluídos no estudo 22 casos. Em todos havia paresia simétrica, sendo a localização difusa predominante nos casos de início a n t e s de 6 meses (75 %), enquanto nos demais havia predominância de localização proximal e/ou em membros inferiores (67 %). Fasciculações e atrofia foram freqüentes (82 %). Os exames complementares tiveram resultados variáveis, sendo a positividade da eletroneuromiografia (ENMG) de 57 % e da biopsia muscular de 58 %. Conclusão: A presença de deleção no gene SMN pode ajudar a confirmar o diagnóstico de casos indefinidos .PA L AV R A S -C H AVE: atrofia muscular espinhal, diagnóstico, eletroneuromiografia, biopsia, técnicas genéticas. Spinal muscular atrophy diagnostic difficulties ABSTRACT -O b j e c t i v e :To describe the clinical findings of patients with spinal muscular atrophy (SMA) with survival motor neuron (SMN) gene deletion. Method: Descriptive study of SMA cases confirmed with the deletion of the SMN gene. Frequency determination of positive clinical and laboratory revised diagnostic criteria. Results: All of the 22 included patients had symmetrical muscle weakness, which was diffuse in those with onset of symptoms up to 6 months of age (75 %), and either proximal or predominant in lower limbs in the remaining group (67 %). Fasciculations and atrophy were both frequent findings (82 %). Laboratory tests findings were variable, with a positivity of 57 % for electrophysiology and of 58 % for muscle biopsy. Conclusion:The presence of a deletion in the SMN gene can help to confirm this diagnosis in unclear presentations.KEY WORDS: spinal muscular atrophy, diagnosis, electromyography, biopsy, genetic techniques.A atrofia muscular espinhal (AME) tem origem genética e caracteriza-se pela atrofia muscular secundária à degeneração de neurônios motores localizados no corno anterior da medula espinhal. D oença autossômica recessiva ligada ao cromossoma 5, relacionada ao gene da proteína de sobrevivência do neurônio motor (SMN), a principal desordem a utossômica recessiva fatal depois da fibrose cística (1:6000), afeta aproximadamente 1 em 10000 nascimentos. O diagnóstico da AME é dado pelo quadro clínico, pelos resultados da eletroneuromiografia (ENMG), da biópsia muscular e da investigação gen é t i c a . Hipotonia, paresia, arreflexia, amiotrofia e miofasciculação constituem os sinais clínicos da A M E , que pode ser subdividida em três grupos de acordo com a idade de início e evolução.O mapeamento do gene em 1990 no cromossomo 5 q 1 3 1 e a identificação do gene SMN em 1995 2 c o n s t ituíram passo importante para aperfeiçoar o diagnóstico desta doença. O locus do SMN consiste de dois genes ho...
Obesity is the most common nutritional disorder. This disease is a multifactorial disease influenced by environmental and genetic factors. This study investigated the relationship between common variants of adiponectin (ADIPOQ), retinoic acid receptor responder 2 (RARRES2), and peroxisome proliferator-activated receptor-γ coativator-1 (PPARGC1) and obesity-related traits and susceptibility. A total of 167 individuals with obesity and 165 normal-weight subjects were recruited. Genotype frequencies of rs182052 in ADIPOQ differed significantly between the groups. Genotype AA was observed at a higher frequency in case than in control subjects. Association analysis showed that the A allele was a risk factor for obesity. This polymorphism was associated with body weight, body mass index (BMI), and waist circumference. After stratification by BMI, eutrophic individuals with AA or AG genotypes had higher body weights and waist circumferences than those with GG genotypes. In the case group, no associations were observed, except for stratified subjects with morbid obesity that exhibited a progressive increase of body weight, BMI, and waist circumference when rs182052 A was present. No associations were observed between SNPs in RARRES2 and PPARGC1 and obesity or any other studied variables. The rs182052 polymorphism in ADIPOQ is associated with a higher risk for obesity and obesity-related parameters.
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