RESUMO
This study aimed to evaluate markers of the CLOCK gene rs1801260 and rs4864548 in Mexican adolescents, addressing clinical and biological aspects previously associated with ADHD. 347 Mexican adolescents were assessed for mental disorders, metabolic disruption and related conditions, circadian preference, as well as genotyping for the CLOCK. We found a significant association between ADHD and the AA and AG genotypes of rs1801260. Also, we identified in the ADHD group that the total Triiodothyronine and total Thyroxine values were respectively 10 ng/dl units and 0.58 ug/dl units lower in females than in males. Previously reported common variations of the CLOCK gene have been associated with ADHD like the Rs1801260 polymorphism hereby we could consider it as risk factor, but genetic, biochemical and clinical studies in the Mexican population are entailed.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Proteínas CLOCK , Adolescente , Feminino , Humanos , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/genética , Proteínas CLOCK/genética , Genótipo , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
A 19 moth-old child who presented seizures secondary to intractable hypoglycemia, fulfilling the clinical and biochemical criteria for hyperinsulinism was studied. Histopathological findings of the pancreas showed the presence of small clusters of b cell islets throughout acinar tissue near ducts, in both the head and the proximal third of the body. Proximal pancreatectomy (60%) and distal pancreatic-jejunostomy (Roux-in-Y) were performed. This procedure was effective in reverting hypoglycemia and constitutes the first successful alternative treatment.
Assuntos
Hiperinsulinismo/etiologia , Hipoglicemia/etiologia , Nesidioblastose/complicações , Técnicas de Diagnóstico Endócrino , Humanos , Hiperinsulinismo/diagnóstico , Hiperinsulinismo/cirurgia , Hipoglicemia/diagnóstico , Hipoglicemia/cirurgia , Lactente , Masculino , Nesidioblastose/patologia , Nesidioblastose/cirurgia , Pâncreas/patologia , Pâncreas/cirurgia , Pancreatectomia/métodos , Resultado do TratamentoRESUMO
En 1938 Laidiaw acuñó el término de nesidioblastosis refiriéndose a una neodiferenciación de los islotes de Langerhans, originada del epitelio de los conductos pancreáticos. Se presenta un caso clínico de un niño de 19 meses de edad, con convulsiones secundarias a hipoglucemia intratable. Se diagnosticó hiperinsulinismo con base en criterios clínicos y bioquímicos. Los hallazgos histopatológicos del páncreas mostraron la presencia de racimos de islotes de células P por todo el tejido acinar localizados en cabeza y un tercio proximal del cuerpo. Se realizó el diagnóstico de nesidioblastosis y para su tratamiento se practicó pancreatectomía proximal (60%), con una pancreático yeyunostomía distal (Y en Roux). Después del tratamiento, el paciente tuvo normalización de los niveles séricos de glucosa y de insulina. Se concluye que este procedimiento resultó efectivo al revertir la hipoglucemia, por lo que constituye el primer tratamiento alternativo al método convencional.
A 19 month old child who presented seizures secondary to intractable hypoglycemia, fulfilling the clinical and biochemical criteria for hyperinsulinism was studied. Histopathological findings of the pancreas showed the presence of small clusters of b cell islets throughout acinar tissue near ducts, in both the head and the proximal third of the body. Proximal pancreatectomy (60%) and distal pancreatic jejunostomy (Roux in Y) were performed. This procedure was effective in reverting hypoglycemia and constitutes the first successful alternative treatment.
