Internal medicine
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Case Reports
A rare hemoglobin variant (Hb Iraq-Halabja) causing spuriously low hemoglobin A1c values.
Various laboratory and patient-related factors can affect the measurement of hemoglobin A1c (HbA1c). We herein present the case of a diabetic patient with spuriously low HbA1c values on ion-exchange high-performance liquid chromatography (HPLC). ⋯ Clinicians should be aware of the limitations of HbA1c assays because inaccurate values may lead to the inappropriate management of diabetes. Unusual or discrepant HbA1c test results should prompt further investigations for potentially interfering factors, including rare Hb variants.
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Case Reports
Autoimmune polyglandular syndrome III in a patient with idiopathic portal hypertension.
A 42-year-old woman with a history of idiopathic portal hypertension (IPH) developed type 1A diabetes and was found to have chronic thyroiditis. The concurrence of IPH and type 1A diabetes has been previously reported in only one case. This is the second known case, and our patient was classified as having autoimmune polyglandular syndrome (APS) III. The patient's HLA DR and DQ alleles were determined to be susceptible to autoimmune thyroid diseases but resistant to type 1A diabetes.
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Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. The pathogenesis of IBS is multifactorial. The aim of this study was to investigate the prevalence of IBS using the Rome III criteria in young Japanese women and to assess the effects of mental, physical, dietary and nutritional factors on IBS. ⋯ The prevalence of IBS observed in this study was similar to that reported in previous studies conducted in Japan and other countries. Mental, physical, dietary and nutritional factors have an impact on IBS.
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We retrospectively investigated spinal magnetic resonance imaging (MRI) manifestations at neurological onset in Japanese patients with spinal cord sarcoidosis. ⋯ Spinal cord sarcoidosis exhibits a predilection for young men and middle-aged women among Japanese individuals and is characterized by intramedullary T2-elongated lesions spreading more than three vertebral segments peaking at the C5 level, two types of abnormal intramedullary enhancement reflecting disease progression, frequent nerve root involvement and lymphadenopathy.
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Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. The case of a Chinese family with two affected individuals is reported in the present study in order to investigate the clinical characteristics and virulence genes of this sclerosing bone disorder. ⋯ The A242T mutation in the LRP5 gene resulted in a high bone mass phenotype with an elongated mandible and torus palatinus in this osteosclerotic family.