Electroneuromyography and neuromuscular findings in 16 primary hypothyroidism patients Achados eletroneuromiográficos e neuromusculares em 16 pacientes com hipotireoidismo primário

There has been few reports on electroneuromyography (ENMG) changes in hypothyroidism. The objectives of the present study were to investigate the frequency of ENMG abnormalities in hypothyroidism and correlate them with neurological signs and symptoms and muscle enzyme levels; and to compare latency, amplitude and nerve conduction velocity from selected nerves with controls. Sixteen patients suffering from primary hypothyroidism were submitted to ENMG before treatment. ENMG abnormalities were found in 87.5% of the patients; 46.6% had myopathy and 43.7% had carpal tunnel syndrome. There was no case of polyneuropathy. A clear-cut clinical, laboratorial and ENMG correlation was observed in patients with myopathy and carpal tunnel syndrome. The patients showed a significant tendency of nerve conduction slowness as compared with controls. The findings are in accordance with the well-known nerve and muscle damage in hypothyroidism.<br>Foram avaliados através de eletroneuromiografia (ENMG) 16 pacientes com hipotireoidismo primário de diversas etiologias, virgens de tratamento, com o objetivo de: estabelecer a incidência de alterações; correlacioná-las com parâmetros clínicos referentes ao acometimento do sistema nervoso periférico e níveis de enzimas musculares; estabelecer a comparação entre valores médios da latência, amplitude e velocidade de condução nervosa de alguns nervos selecionados no grupo de pacientes e de grupo controle. Alterações da ENMG foram encontradas em 87,5% dos casos, sendo estabelecido diagnóstico eletrofisiológico de miopatia em 46,6% e de síndrome do túnel do carpo em 43,7%. Nenhum dos casos foi identificado como polineuropatia. A concordância entre sintomatologia (100%), exame neurológico (28,57%), níveis de enzimas musculares (42,85%) e ENMG foi elevada para casos de miopatia. Nos casos de síndrome do canal carpiano foi respectivamente de 71,42% para sintomatologia e 71,42% para exame neurológico. A comparação de valores médios dos parâmetros selecionados de neurocondução, entre pacientes e controle, demonstrou tendência generalizada à lentificação da condução nervosa no hipotireoidismo primário. A literatura revista concorda com os dados dos autores em relação à extensão do dano de nervo e músculo nessa endocrinopatia

The I,105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate.

Contains fulltext : 70847.pdf (publisher's version ) (Closed access)Genetic variations in the detoxification enzyme glutathione S-transferase P1 (GSTP1) may modify the teratogenicity of lifestyles, such as smoking. We investigated the role of the I105V polymorphism in GSTP1, parental periconception smoking, and their interaction with nonsyndromic cleft lip with or without cleft palate (CL/P) risk in the offspring. The GSTP1 I105V polymorphisms were determined in Dutch non-consanguineous Caucasians comprising of 155 CL/P triads (mother, father, child) and 195 control triads. The analyses were also carried out on complete triads only (n=69 CL/P and n=95 controls). Transmission disequilibrium testing and logistic regression analyses were performed. Neither maternal nor paternal smoking increased CL/P risk; odds ratios (OR): 1.2, 95 confidence intervals (CI)=0.7-2.0 and OR: 1.0, 95% CI=0.6-1.6, respectively. Carriership of the polymorphic Val105 allele in mothers may increase CL/P risk, OR: 1.5, 95% CI=0.96-2.5. Children homozygous for the Val105 allele may show an increased risk of CL/P, OR: 2.2, 95% CI=0.8-6.4. Maternal smoking tended to increase CL/P risk in mothers and children carrying Val105 alleles, OR=1.9, 95% CI=0.9-4.0 and OR=2.2, 95% CI=0.98-4.9, respectively. The highest risk for CL/P in children carrying Val105 alleles with a smoking father was 1.7, 95% CI=0.8-3.5. The GSTP1 I105V polymorphism in mothers and/or children either alone or in combination with maternal smoking may contribute to CL/P risk. Although of borderline significance, these results may underline the importance of smoking cessation in the periconception period for the prevention of CL/P in future generations