Internal medicine
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It is well known that people with Down's syndrome (DS) frequently complicate with congenital heart diseases (CHDs). Patients with heart diseases often have sleep-disordered breathing as a co-morbidity (SDB) which worsens the heart diseases. However, the relationship between SDB and CHDs in DS people has not yet been fully elucidated. The aim of this study was to establish the association between SDB and CHDs in DS people using data from a large nationwide questionnaire survey in Japan. ⋯ SDB prevailed among DS people with severe CHDs, such as tetralogy of Fallot. Careful attention to the signs of SDB in such patients may lead to earlier clinical intervention removing the vicious cycle between SDB and CHDs.
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The aim of this study was to clarify the indications for oral glucose tolerance tests (OGTT) in non-alcoholic fatty liver disease (NAFLD) subjects with a HbA1c level of ≤6.4%, fasting plasma glucose (FPG) level of <126 mg/dL and no history of diabetes. ⋯ NAFLD subjects with IFG and an HbA1c level of 5.7-6.4% should undergo OGTT in order to determine whether they have diabetes and/or abnormal insulin dynamics.
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Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. We herein report the case of a family with UAKD caused by a novel mutation (C135G) in the UMOD gene. ⋯ Her father, grandfather and paternal aunt had received maintenance hemodialysis therapy since their 40's. This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function.
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Review Meta Analysis
Lifestyle interventions for adults with impaired glucose tolerance: a systematic review and meta-analysis of the effects on glycemic control.
Previous meta-analyses have demonstrated that lifestyle modification can reduce the blood glucose levels in patients with type 2 diabetes, although the effects of changes in the blood glucose level on impaired glucose tolerance (IGT) remain controversial. This review therefore aimed to determine the efficacy of lifestyle interventions in adults with IGT. ⋯ Lifestyle modification based on physical or dietary interventions or both is associated with improvements in the 2-hour plasma glucose and FPG levels in IGT patients.