Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.
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PMID:X-linked dominant inherited diseases with lethality in hemizygous males. 687 41

This review examines the relationship between renal transplantation and two important metabolic consequences: hyperlipidemia and glucose intolerance. Before cyclosporine, hypertriglyceridemia and hypercholesterolemia were common abnormalities that worsened in the cyclosporine era. In addition to obesity, steroid use, and reduced renal function, cyclosporine plays an independent role in elevating cholesterol levels, with particular reference to the modulation of the low-density lipoprotein receptor. Management includes maintaining low levels of steroid, manipulation of cyclosporine appropriately, diets low in fat and cholesterol, and an exercise program. Pharmacologic management in general revolves around the HMG-COA reductase drugs, which can be used safely if liver function tests and muscle enzymes are monitored. The unmasking of clinically important glucose intolerance occurs in 5 to 10% of patients in the cyclosporine era, not different from the earlier experience. Steroids and cyclosporine independently can worsen glucose tolerance to unmask a genetic predisposition to Type II diabetes in some and to even create glucose intolerance in otherwise normal individuals. Management is based on dietary and immunosuppressive drug dosing manipulations and the judicious use of oral hypoglycemic agents. Half of these recipients may ultimately need insulin. In summary, hyperlipidemia and glucose intolerance remain important metabolic consequences of renal transplantation that affect long-term patient survival unless recognized and treated.
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PMID:Hyperlipidemia and glucose intolerance in the post-renal transplant patient. 819 94

Background Premature coronary artery disease ( CAD ) is common in patients with coarctation of aorta ( COA ), but there are limited data about any direct relationship (or lack thereof) between COA and CAD . We hypothesized that atherosclerotic cardiovascular disease risk factors, rather than COA diagnosis, was the primary determinant of CAD occurrence in patients with COA . Methods and Results This is a retrospective study of 654 COA patients and a control group of 876 patients with valvular pulmonic stenosis and tetralogy of Fallot to determine prevalence and independent risk factors for CAD . There was no evidence of a difference in the unadjusted CAD prevalence between the COA and control groups (7.8% versus 6.3%, P=0.247), but premature CAD was more common in COA patients (4.4% versus 1.8%, P=0.002). In the analysis of a propensity-matched cohort of 126 COA and 126 control patients, there was no evidence of a difference in overall CAD prevalence (6.3% versus 5.6% versus P=0.742) and premature CAD prevalence (4.8% versus 3.2%, P=0.518). The multivariable risk factors for CAD were hypertension (odds ratio [ OR ] 2.14; 95% CI 1.36-3.38), hyperlipidemia ( OR 3.33; 95% CI 2.02-5.47), diabetes mellitus ( OR 1.98; 95% CI 1.31-3.61), male sex ( OR 2.05; 95% CI 1.33-3.17), and older age per year ( OR 1.06; 95% CI 1.04-1.07). Conclusions After adjusting for atherosclerotic cardiovascular disease risk factors, we did not find evidence of a difference in CAD risk between the patients with COA and other patients with congenital heart disease.
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PMID:Coronary Artery Disease in Adults With Coarctation of Aorta: Incidence, Risk Factors, and Outcomes. 3119 76