The American journal of the medical sciences
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Familial dysalbuminemic hyperthyroxinemia (FDH) is a rare autosomal dominant disorder whose clinical characteristics remain incompletely understood, we investigated the role of albumin gene mutation in relation to miscarriage rate in a large pedigree of FDH followed up for 4 years. ⋯ Albumin gene variant (R218S) not only causes FDH but also may be associated with a higher risk of miscarriages, although the growth of their children appears not to be affected by the age of 2 years.
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Multicenter Study
Fracture Risk Assessment Tool May Not Indicate Bone Fragility in Women With Type 2 Diabetes.
Diabetes carries a known risk of bone fracture despite high bone mineral density (BMD). The fracture risk assessment tool (FRAX) predicts the 10-year major osteoporotic fracture risk and hip fracture risk. We investigated the effects of clinical parameters on the FRAX score and evaluated the validity of FRAX for evaluating current bone fragility in diabetes subjects. ⋯ The FRAX major osteoporotic fracture risk without BMD does not correctly indicate current bone fragility in Japanese middle-aged women with type 2 diabetes.
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Gender plays a crucial role in the prevalence, clinical presentation, management and outcomes of various cardiovascular diseases. The aim of this study was to evaluate the impact of gender on clinical manifestations and outcomes in the Chinese patients with hypertrophic cardiomyopathy (HCM). ⋯ Compared to males, females were older and more symptomatic at presentation, and had higher risk of progression to heart failure in Chinese HCM patients but there were no differences in cardiovascular mortality.
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Idiopathic granulomatous mastitis is a rare inflammatory disease of the breast, for which there is a lack of consensus on the treatment protocol; it requires long-term follow-up and is associated with a high rate of relapse after surgical treatment. In this study, we report on the largest single-center cohort of idiopathic granulomatous mastitis treated with steroids + methotrexate. ⋯ Steroid + methotrexate treatment is an effective and reliable method for ensuring long-term remission in patients with idiopathic granulomatous mastitis diagnosis.