1/5. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.bardet-biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
2/5. recurrence of insulin resistant metabolic syndrome following liver transplantation.Insulin resistant metabolic syndrome is a major clinical disorder including hyperlipidaemia, hypertension, impaired glucose tolerance and/or type 2 diabetes and central obesity, which are well established cardiovascular risk factors. We report the case of a 61-year-old woman who developed severe hypercholesterolaemia and hypertriglyceridaemia after liver transplantation. In her forties she had hypertension, mixed hyperlipidaemia, mild hyperglycaemia and moderate abdominal obesity, suggesting the presence of the metabolic syndrome. She had liver enzyme elevation and severe steatosis and hepatomegaly at ultrasonography. At age 52, cryptogenic liver cirrhosis was diagnosed and rapidly progressing liver failure developed. In 1992 she underwent liver transplantation. Seven years after transplant the patient had abdominal obesity, high blood pressure, marked hypercholesterolaemia, hypertriglyceridaemia and moderate elevation of alanine aminotransferase. She also had impaired glucose tolerance and markedly increased basal and post-glucose load plasma insulin levels. Steatohepatitis was demonstrated by serial liver biopsies. This is the first case that reports the recurrence of the metabolic syndrome following liver transplantation. We postulate that metabolic syndrome may have promoted fatty liver and subsequent progression to end stage liver disease. We also stress the need for careful management of the metabolic syndrome in order to decrease the long-term risk for cardiovascular disease.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
3/5. Metabolic syndrome.The metabolic syndrome is characterized by diabetes mellitus, obesity, hypertension, hyperlipidaemia and polycystic ovary syndrome. The lipid profiles of patient with metabolic syndrome is often characterized by the appearance of hypertrygliceridaemia and small, dense LDL-cholesterol, together with low HDL-cholesterol. patients with these abnormalities are at an increased risk for premature coronary artery disease. Treatment is a multifactorial process and includes modification of lifestyle factors such as diet and physical activity, weight reduction, correction of dyslipidemia, meticulous blood pressure and glycemic control. The case of a 36-year-old woman who develops metabolic syndrome is discussed.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
4/5. Integrating the principles of evidence-based practice: prognosis and the metabolic syndrome.Current health care trends and pressures have strained clinical decision making and practice patterns of practitioners. evidence-based practice has evolved in response to these trends. evidence-based practice requires providers to be proficient in statistical analysis and critique of the evidence. This article uses a hypothetical patient's prognostic concerns to depict a practitioner's integration of the principles of evidence-based practice as she considers clinical practice guidelines, expert opinion, and a prognostic study relative to her patient's prognosis. Statistical measures evident in a prognostic study, such as absolute risk, baseline risk, relative risk, survival curves, and hazard ratios are defined.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
5/5. Type I CD36 deficiency associated with metabolic syndrome and vasospastic angina: a case report.A 54-year-old man was admitted to our hospital for evaluation of chest pain occurring at rest in the morning. ST segment depression was observed during a treadmill exercise test. coronary angiography identified spontaneous spasm of the proximal right coronary artery, and right coronary obstruction was improved from 90% to about 50% stenosis after intracoronary administration of nitroglycerin. Myocardial iodine-123 beta-methyl-p-iodophenyl-pentadecanoic acid uptake was absent, but thallium-201 uptake during single photon emission computed tomography was normal, and neither platelet nor monocyte expression of the CD36 molecule was observed, indicating type I CD36 deficiency. High blood pressure, elevated plasma triglyceride and fasting plasma glucose levels, and low high-density lipoprotein values suggested metabolic syndrome. The final diagnosis was type I CD 36 deficiency associated with metabolic syndrome and vasospastic angina.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |