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)

Although in cross-sectional studies of men with premature CHD plasma triglycerides as well as LDL-cholesterol levels are almost invariably increased, the atherogenicity of plasma triglycerides has remained controversial, mainly because in most prospective studies triglycerides have failed to survive the test of multivariate analysis as an independent risk factor. On the other hand the atherosclerotic risk is increased in some genetic disorders associated with elevated triglyceride levels and also in patients with remnant hyperlipidemia coexistence of non-functional apo E isoforms with a genetic or acquired disorder of VLDL/IDL metabolism lead to the accumulation of remnant lipoproteins (beta-VLDL) with a prolonged half life which are finally metabolized in macrophages leading to foam cell formation. Similar remnant particles have been described as hypertriglyceridemic-VLDL1 (HTG-VLDL1) in patients with hypertriglyceridemia. At least two metabolic pathways are involved in the cellular uptake of remnant lipoproteins. One is identical with the classical LDL-Apo B, E receptor, which binds these particles by either the apo B or apo E moiety. The other binding site may be related to the LRP-type (LDL-receptor-like protein) remnant receptor which recognizes functional apo E isoforms. In addition beta-VLDL and oxidatively modified remnant lipoproteins are recognized by the scavenger receptor of macrophages leading to cholesterylester accumulation. The oxidized remnant lipoproteins may be also cytotoxic for endothelial cells as it has been shown extensively for the atherogenic oxidized LDL. Among the peripheral cells macrophages, endothelial cells and also vascular smooth muscle cells are the major cell types which are affected by atherogenic remnant lipoprotein particles.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Peripheral remnant metabolism]. 208 76

Myelolipoma within an adrenal cortical adenoma is a very rare cause of adrenal incidentaloma, and only nine cases have been reported in the English and Japanese literature. We report a 66-year-old Chinese man, with a history of hypertension and hyperlipidaemia, who presented with lower limb oedema and had a computed tomography (CT ) of the abdomen done to exclude intra-abdominal mass. His lower limb symptoms resolved after switching his antihypertensive medication. CT of the abdomen showed a large heterogeneously-enhancing mass in the left suprarenal region, measuring 72 mm by 55 mm. Clinical history, physical examination and laboratory results did not show any evidence to suggest metabolic disorder such as Cushing's syndrome, hyperaldosteronism or catecholamine hypersecretion. The patient underwent a left adrenalectomy, and a histopathological study confirmed the mass to be a non-functional adrenal cortical adenoma containing myelolipoma. The patient was well postoperatively and was discharged uneventfully. To the best of our knowledge, this is the first non-functional adrenal cortical adenoma reported; in the nine cases of myelolipoma within an adrenal cortical adenoma reported previously, all the patients had Cushing's syndrome. The literature on synchronous myelolipoma with adrenal adenoma, and myelolipoma within functional adrenal adenoma, is reviewed.
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PMID:Myelolipoma within a non-functional adrenal cortical adenoma. 1760 15

To analyze the reason for replacement, revision and overall satisfaction of a cohort who underwent surgical replacement of an inflatable penile prosthesis (IPP). A cohort of 105 patients who underwent IPP replacement from 2005-2007 was retrieved from the prosthesis database. Approximately 21.9% (23) underwent replacement or revision of their prosthesis because of complications, and were further analyzed. Reason for removal was stratified into infectious and non-infectious (erosion, non-function and patient discomfort). Age, race (African American vs non-African American), smoking history, hypertension, diabetes, coronary artery disease and hyperlipidemia were stratified by reason for removal. Finally, we contacted patients and recorded subjective satisfaction with their IPP. The reason for removal was most commonly because of a non-functional IPP (47.8%), followed by infection (30.4%), erosion (17.4%) and patient discomfort (4.3%). Age and race did not show a significant difference when analyzing reason for replacement (P > 0.05). Patients who were smokers (P = 0.907) had hypertension (P = 0.554), diabetes (P = 0.591) or hyperlipidemia (P = 0.219) did not have significantly higher infection rates. Approximately 58.3% were satisfied with their prosthesis, 75% would have the surgery performed again and 91.7% would still recommend prosthesis surgery. Device malfunction was the primary reason for replacement/removal at our institution. Despite the complications of prosthesis reoperation, the majority of patients were still satisfied with their prosthesis, would have the surgery performed again and would recommend prosthesis surgery to a friend.
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PMID:Does a replacement or revision of an inflatable penile prosthesis lead to decreased patient satisfaction? 2130 71

Wolman Disease (WD) and cholesteryl ester storage disease (CESD) represent two distinct phenotypes of the same recessive disorder caused by the complete or partial deficiency of lysosomal acidic lipase (LAL), respectively. LAL, encoded by the LIPA gene, hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. WD is a rapidly progressive and lethal disease characterized by intestinal malabsorption, hepatic and adrenal failure. CESD is characterized by hepatic fibrosis, hyperlipidemia and accelerated atherosclerosis. Aim of the study was the identification of LIPA mutations in three WD and eight CESD patients. The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. The two mutations (c.419G>A and c.796G>T) resulting in truncated proteins (p.W140* and p.G266*) and the splicing mutation (c.229+1G>A) were associated with undetectable levels of LIPA mRNA in fibroblasts. All eight CESD patients carried the common mutation c.894G>A known to result not only in a major non-functional transcript with the skipping of exon 8 (p.S275_Q298del), but also in a minor normally spliced transcript producing 5-10% residual LAL activity. The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. Segregation analysis performed in all patients harboring c.895G>A showed its occurrence on the same haplotype suggesting a common founder ancestor. The other WD and CESD mutations were associated with different haplotypes.
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PMID:Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 2222 72

Metabolic syndrome has been described as the association of insulin resistance, hypertension, hyperlipidemia and obesity. Its prevalence increased dramatically, mainly in developed countries. Animal models are essential to understand the pathophysiology of this syndrome. This review presents the murine models of metabolic syndrome the most often used in pharmacological studies. The most common metabolic syndrome models exhibit a non-functional leptin pathway, or metabolic disorders induced by high fat diets. In a first part, and after a short introduction on leptin, its receptor and mechanism of action, we provide a detailed description of each model: SHROB, SHHF, JCR:LA-cp, Zucker, ZDF, Wistar Ottawa Karlsburg W, and Otsuka Long-Evans Tokushima Fatty rats, ob/ob, db/db, agouti yellow and Mc4R KO mice. The second part of this review is dedicated to metabolic syndrome models obtained by high fat feeding.
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PMID:Murine models for pharmacological studies of the metabolic syndrome. 2317 10

Irrational drug use practices are a burden to healthcare facilities. Poor prescribing practices affect the overall management and cost of treatment of non-communicable diseases that are the major cause of mortality and morbidity worldwide. In an effort to improve prescribing practices, this study was designed to assess prescribing, consultation and facility indicators in healthcare facilities of Punjab and Sindh provinces of Pakistan from December 2012 to December 2013. In this cross-sectional study, random and convenient sampling were used to collected data from both private and public healthcare facilities. Quantitative data were collected using structured questionnaire, observations and prescription analysis, whereas qualitative information on factors influencing prescribing practices was obtained by interviewing medical practitioners. A total of 13693 prescriptions were obtained from 500 patient-prescriber encounters. Results show that history taking, physical examination and diagnoses were adequate while generic prescribing was four-fold less than drugs prescribed by brands. Average number of drugs prescribed was 4.63 with more prescribing tendency in private facilities. 45.07% prescription costs were less than Rs. 150. Sulfonylureas, statins and ACE inhibitors were highly prescribed drugs for diabetes, hyperlipidemia and hypertension. Prescribing practices were dominantly influenced by severity of disease (73% Punjab; 81% Sindh), patient age (75% Punjab; 68% Sindh) and availability of drugs (62% Punjab; 56% Sindh) whereby 91% practitioners in Sindh and 52% in Punjab rely on medical representatives as the source of drug information. Moreover, the pharmacy and therapeutic committees in all facilities were non-functional along with non-availability of essential drug list in 87% health facilities. Thus, there are considerable opportunities to improve the rational use of medicines in Pakistan including low prices for generics, physician education, prescribing guidelines and formularies.
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PMID:EVALUATION OF DRUG USE INDICATORS FOR NON-COMMUNICABLE DISEASES IN PAKISTAN. 2747 98