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1.
J Hum Genet ; 59(11): 609-14, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25231369

RESUMEN

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and <30 cases have been reported worldwide. This disorder is typically characterized by progressive neurodegenerative disease from 6 to 18 months of age. Here, we report the first patient with this disorder in Asia, with atypical clinical presentation. A 6-year-old boy, who had been well, presented with severe ketoacidosis following a 5-day history of gastroenteritis. Urinary organic acid analysis showed elevated excretion of 2-methyl-3-hydroxybutyrate and tiglylglycine. He was tentatively diagnosed with ß-ketothiolase (T2) deficiency. However, repeated enzyme assays using lymphocytes showed normal T2 activity and no T2 mutation was found. Instead, a hemizygous c.460G>A (p.A154T) mutation was identified in the HSD17B10 gene. This mutation was not found in 258 alleles from Japanese subjects (controls). A normal level of the HSD17B10 protein was found by immunoblot analysis but no 2M3HBD enzyme activity was detected in enzyme assays using the patient's fibroblasts. These data confirmed that this patient was affected with HSD10 disease. He has had no neurological regression until now. His fibroblasts showed punctate and fragmented mitochondrial organization by MitoTracker staining and had relatively low respiratory chain complex IV activity to those of other complexes.


Asunto(s)
Acetil-CoA C-Acetiltransferasa/deficiencia , Errores Innatos del Metabolismo Lipídico/genética , Mutación Puntual , 3-Hidroxiacil-CoA Deshidrogenasas/química , 3-Hidroxiacil-CoA Deshidrogenasas/genética , 3-Hidroxiacil-CoA Deshidrogenasas/metabolismo , Acetil-CoA C-Acetiltransferasa/genética , Secuencia de Bases , Carnitina/análogos & derivados , Carnitina/sangre , Niño , Análisis Mutacional de ADN , Diagnóstico Diferencial , Discinesias , Fibroblastos/metabolismo , Glicina/análogos & derivados , Glicina/orina , Humanos , Hidroxibutiratos/orina , Immunoblotting , Errores Innatos del Metabolismo Lipídico/diagnóstico , Masculino , Discapacidad Intelectual Ligada al Cromosoma X , Mitocondrias/metabolismo , Modelos Moleculares , Estructura Terciaria de Proteína
2.
Hypertens Res ; 29(5): 315-22, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16832151

RESUMEN

We investigated the prevalence of metabolic syndrome in patients with obstructive sleep apnea syndrome (OSAS) referred to a tertiary university-based medical center. A cross-sectional study of patients with a definite diagnosis of OSAS was performed using new diagnostic criteria for metabolic syndrome that were designed for the Japanese population. Clinical features and comorbidities related to metabolic syndrome were compared between 819 patients with OSAS (719 men and 100 women) and 89 control subjects without OSAS. Metabolic syndrome was significantly more common in the patients with OSAS than in the controls (49.5% vs. 22.0% for men, p < 0.01; 32.0% vs. 6.7% for women, p < 0.01). Men with OSAS (apnea-hypopnea index [AHI] > or =5/h) had a higher risk of metabolic syndrome compared with controls (odds ratio [OR]: 3.47; 95% confidence interval [CI]: 1.84-6.53). There was a significantly increased risk of metabolic syndrome in men with moderate OSAS (AHI: 15-29.9/h) (OR: 2.83; 95% CI: 1.42-5.66) and men with severe OSAS (AHI > or =30/h) (OR: 5.09; 95% CI: 2.67-9.71). Women with OSAS (AHI> or =5/h) also had an increased risk of metabolic syndrome (OR: 6.59; 95% CI: 1.47-29.38), and the risk was significantly higher in women with severe OSAS (AHI > or =30/h) (OR 14.00; 95% CI: 2.93-66.82). Risk factors for metabolic syndrome differed by gender: in men, age, body mass index (BMI), and OSAS (AHI > or =15/h) were significantly associated with metabolic syndrome, whereas, in women, BMI was the only risk factor for metabolic syndrome. The increase of metabolic syndrome in Japanese OSAS patients suggests that this patient population is burdened with multiple risk factors for cardiovascular disease.


Asunto(s)
Síndrome Metabólico/epidemiología , Síndrome Metabólico/etiología , Apnea Obstructiva del Sueño/complicaciones , Adulto , Índice de Masa Corporal , Estudios de Casos y Controles , Comorbilidad , Estudios Transversales , Femenino , Humanos , Hipertensión/epidemiología , Hipertensión/fisiopatología , Resistencia a la Insulina/fisiología , Japón , Masculino , Persona de Mediana Edad , Obesidad/epidemiología , Obesidad/fisiopatología , Prevalencia , Factores de Riesgo , Factores Sexuales , Apnea Obstructiva del Sueño/epidemiología
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