Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0242339 (dyslipidemia)
 13,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.
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PMID:Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 2464 11

Thyroid nodule (TN) and goiter are two common disorders of the thyroid. Despite their benign nature, both conditions are associated with multiple pathologic conditions including thyroiditis, endocrine dysregulation, and autoimmune disease. In this study we conducted a large-scale epidemiological study in Chinese women to identify risk factors implicated in the pathogenesis of TN and goiter. We analyzed demographic data, medical history, menstrual status, smoking, alcohol consumption, body height, weight, waist circumference, and body mass index (BMI). Thyroid ultrasonography was performed for all subjects. Our results showed that age, menstrual status, BMI, waist circumference, hypertension, dyslipidemia and hyperglycemia had a significant relationship with the prevalence of TN and goiter. There was also a significant association between parity, educational level, smoking, seafood consumption, salt consumption and TN. Waist-hip ratio, BMI, and triglyceride had a significant association with both TN and goiter, and total cholesterol only correlated with TN. Medical management of hypertension significantly affected TN prevalence. Our study also demonstrated age to be a strong predictor of TN and goiter, and obesity a predictor of the likelihood of developing goiter. Thus, our study suggests that the female Chinese population with advance age, menopause, obesity and metabolic syndrome be examined for TN and goiter, and those patients with confirmed TN and goiter be screened for age and obesity related disorders such as metabolic syndrome.
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PMID:An epidemiological study of risk factors of thyroid nodule and goiter in Chinese women. 2637 53