Metabolic abnormalities in Williams–Beuren syndrome
نویسندگان
چکیده
منابع مشابه
P-54: Metabolic Abnormalities in Adolescents with Polycystic Ovary Syndrome in Zanjan-Iran
Background: Adults with polycystic ovary syndrome (PCOS) can have multiple metabolic abnormalities. However, studies in the adolescent population are still limited and these results seem to vary widely. This study was to investigate the metabolic abnormalities in adolescents with PCOS in Zanjan-Iran and potential risk factors contributed to these health risks. Materials and Methods: Anthropomet...
متن کاملMetabolic abnormalities in Williams-Beuren syndrome.
BACKGROUND Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83 Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic abnormalities include transient hypercalcaemia of infancy, subclinical hypothyroidism in ∼ 30% of children and impaired glucose tolerance in ∼ 75% of adult individuals. The p...
متن کاملMetabolic Syndrome in Patients with Polycystic Ovary Syndrome in Iran
Background The prevalence of metabolic syndrome (MetS) in polycystic ovary syndrome (PCOS) has been studied in different populations, but their results were so controversial regarding Iranian women. These controversial data indicated the need for more investigation of MetS characteristics in PCOS patients in our population. So this study aimed to evaluate the clinical and laboratory characteris...
متن کاملEarly metabolic abnormalities in adolescent girls with polycystic ovarian syndrome.
OBJECTIVE To investigate insulin sensitivity and secretion in young adolescent girls with childhood onset polycystic ovarian syndrome (PCOS) and to identify the early metabolic derangement(s). STUDY DESIGN Twelve obese girls with PCOS (age 12.0+/-0.7 years) were compared with 10 obese nonhyperandrogenic girls (control group). The groups were matched for age, percent body fat, and abdominal fa...
متن کاملDiffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.
Two cases of reversible posterior leukoencephalopathy syndrome were examined with proton MR spectroscopic imaging. Widespread metabolic abnormalities, consisting of increased choline and creatine levels and mildly decreased N-acetylaspartate, occurred in regions with both normal and abnormal MR imaging appearances. In one case for which proton MR spectroscopic imaging follow-up was available, a...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2015
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2014-102713