Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0948265 (metabolic syndrome)
 24,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In patients with craniopharyngioma, pituitary failure and often lifelong hormone replacement therapy, persisting ophthalmological problems with impaired vision, cranial nerve palsies, and psychoneurological deficits will lead to a persisting impairment in quality of life and social competence. Some patients completely depend on assistance. To prevent this, a major goal is an early diagnosis and limitation of operative radicality to minimize postoperative complications. Surgery in centers with special expertise is mandatory. Radiotherapeutical strategies are relatively safe and improve the outcome and recurrence-free survival after incomplete surgical resection or after local recurrence. Multidisciplinary concepts and prospective data acquisition are desirable with regard to therapy and outcome in patients with craniopharyngioma. Problems in the follow-up period are the development of atherosclerotic complications and metabolic syndrome as a consequence of occasionally excessive obesity, which may impair the long-term survival of the patients. Cause and progression of these complications are not fully understood, therapeutical strategies for the morbid obesity are not available. Only interdisciplinary co-operation will help to develop and evaluate therapeutical concepts for the management of this rare disease.
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PMID:[CranioNet -- an interdisciplinary strategy for craniopharyngioma]. 1660 3

Renal failure is considered a rare disease. However, recent epidemiological surveys like the NHANES III survey in the USA have shown that mild and moderate renal insufficiency is much more common: 31% and 4% of Americans, respectively, are affected by a mild or moderate degree of renal insufficiency. Such an epidemic is of particular concern because of the high cardiovascular risk brought about by kidney failure. Renal insufficiency is now considered a public health priority. Together with diabetes and smoking, the metabolic syndrome is the principal factor responsible for this epidemic. The prevalence of chronic renal insufficiency is in fact strictly proportional to the number of components of the metabolic syndrome being present in individual patients. As renal function deteriorates, other risk factors come into play like those peculiar to renal insufficiency (anemia, hyperparathyroidism) and some so-called emerging risk factors (inflammation, hyperhomocysteinemia and high plasma levels of endogenous inhibitors of NO synthase such as asymmetric dimethylarginine).
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PMID:[The chronic renal failure epidemic: an underestimated public health problem]. 1792 40

Cushing's syndrome (CS) is a complex of signs and symptoms due to chronic glucocorticoid excess from a variety of causes. Although CS is considered a rare disease, recent studies have suggested that it may be more frequent than previously expected in various clinical settings (i.e. subjects suffering from diabetes, osteoporosis or metabolic syndrome). If confirmed in large population-based studies, more widespread screening for CS may be warranted. Missed diagnosis of CS may have detrimental consequences because hypercortisolism, even if not clinically apparent, increases the probability of future cardiovascular events through induction/amplification of several risk factors (hypertension, central adiposity, thrombophilic state, etc.). Identifying CS has represented one of the most challenging problems for the clinical endocrinologist since no test is 100% sensitive and specific. This review article will be focus on diagnostic laboratory procedures that support a rationale approach in the screening evaluation and in the differential diagnosis of the endogenous CS. Notwithstanding the difficulties derived from laboratory reliability and the adoption of a hormonal cut-off close to the sensitivity of many commercially available assays, an increasing amount of data have provided novel information aimed to meet the demand of inexpensive, convenient and reliable laboratory procedures.
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PMID:Laboratory differentiation of Cushing's syndrome. 1805 7

Cushing's disease, or pituitary ACTH dependent Cushing's syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity, signs of protein wasting, increased blood pressure, variable levels of hirsutism. Diagnosis is frequently difficult, and requires a strict algorithm. First-line treatment is based on transsphenoidal surgery, which cures 80% of ACTH-secreting microadenomas. The rate of remission is lower in macroadenomas. Other therapeutic modalities including anticortisolic drugs, radiation techniques or bilateral adrenalectomy will thus be necessary to avoid long-term risks (metabolic syndrome, osteoporosis, cardiovascular disease) of hypercortisolism. This review summarizes potential pathophysiological mechanisms, diagnostic approaches, and therapies.
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PMID:Cushing's disease. 2271 Jan 1

Launois-Bensaude syndrome (benign symmetric lipoma-tosis) is a rare disease characterized by symmetric fat deposits localized in the cervical region, shoulders and proximal parts of upper and lower limbs. We present the case of a 63-year-old male who presented the typical location of fatty masses and a history of chronic alcoholism associated with elements defining the metabolic syndrome. The biological profile indicated high-atherogenic mixed dyslipidemia, high basal insulinemia (30 microU/ml), and multiple markers of insulin resistance (Reaven index, lipid accumulation product, homeostatic model, insulin sensitivity index, and modified glycemic curve following oral glucose load). The particularity of the presented case is the discordance between the severity of metabolic disturbances and their clinical expression, raising the question whether this patient's cardiometabolic risk is increased or rather lowered by the association of benign symmetric lipomatosis.
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PMID:Markers of insulin resistance in a case of Launois-Bensaude syndrome. 2434 May 23

Hepatic glycogenosis (HG) is characterized by excessive glycogen accumulation in hepatocytes and represents a hepatic complication of diabetes that particularly occurs in patients with longstanding poorly controlled type 1 diabetes (T1D). HG has been reported to be a very rare disease, although it is believed to be extremely underdiagnosed because it is not possible to distinguish it from non-alcoholic fatty liver disease (NAFLD) unless a liver biopsy is performed. In contrast to HG, NAFLD is characterized by liver fat accumulation and is the more likely diagnosis for patients with type 2 diabetes and metabolic syndrome. The pathogenesis of HG involves the concomitant presence of insulin and excess glucose, which increases glycogen storage in the liver. HG is characterized by a transient elevation in liver transaminases and hepatomegaly. Differentiating between these two conditions is of the utmost importance because HG is a benign disease that is potentially reversible by improving glycemic control, whereas NAFLD can progress to cirrhosis. Therefore, HG should be suspected when liver dysfunction occurs in patients with poorly controlled T1D. The aim of this article is to review the epidemiology, clinical characteristics, pathogenesis and histology of HG.
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PMID:Hepatic glycogenosis: An underdiagnosed complication of diabetes mellitus? 2578 13