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)

A 1-year, nation-wide study was conducted to determine the incidence, risk factors and causes of stroke in young adults. Permanent residents of Israel of both genders, aged 17-49 years, who were referred to 23 general hospitals with a first, acute stroke from 1 Nov. 1992 to 31 Oct. 1993, were studied. Briefed investigators administered a prospective questionnaire pertaining to demographic and socioeconomic variables; past, present and family histories; and condition on admission and discharge. 253 subjects, 17-49 years of age, of whom 62.8% were men, had a first stroke during the year. The incidence was 10.3/100,000/year, increasing with age. 80.6% of strokes were due to infarctions, 9.9% intracerebral hemorrhages, 7.9% subarachnoid hemorrhages, and 1.6% were of undetermined type. There was no seasonal variation in incidence; 45.6% occurred in the morning. The main risk factors were smoking (53.6%), hypertension (43.4%), hyperlipidemia (22%) and diabetes (21%). Atherosclerosis was the main cause of the strokes (52%). In 3.5% there was no residual damage, 10.3% were left with minimal damage, 40.3% remained with minor disability, 19% with moderate disability, 17.4% with severe disability and 9.9% died. The data on incidence concur with those published from western Europe. However, the data on risk factors differ from those of young adults and are identical with those of the older population. Although these risk factors can be modified, preventive measures were insufficiently used. More comprehensive diagnosis is needed to determine stroke etiology in each patient and establishing a national stroke registry is important for planning and improving services.
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PMID:[Incidence, risk factors and causes of stroke in young adults]. 868 92

Polymerized hemoglobin solutions (Hb-based oxygen carriers; HBOCs) and a second-generation perfluorocarbon (PFC) emulsion (Perflubron) are in clinical trials as temporary oxygen carriers ("blood substitutes"). Plasma and serum samples from patients receiving HBOCs look markedly red, whereas those from patients receiving PFC appear to be lipemic. Because hemolysis and lipemia are well-known interferents in many assays, we examined the effects of these substances on clinical chemistry, immunoassay, therapeutic drug, and coagulation tests. HBOC concentrations up to 50 g/L caused essentially no interference for Na, K, Cl, urea, total CO2, P, uric acid, Mg, creatinine, and glucose values determined by the Hitachi 747 or Vitros 750 analyzers (or both) or for immunoassays of lidocaine, N-acetylprocainamide, procainamide, digoxin, phenytoin, quinidine, or theophylline performed on the Abbott AxSym or TDx. Gentamycin and vancomycin assays on the AxSym exhibited a significant positive and negative interference, respectively. Immunoassays for TSH on the Abbott IMx and for troponin I on the Dade Stratus were unaffected by HBOC at this concentration. Tests for total protein, albumin, LDH, AST, ALT, GGT, amylase, lipase, and cholesterol were significantly affected to various extents at different HBOC concentrations on the Hitachi 747 and Vitros 750. The CK-MB assay on the Stratus exhibited a negative interference at 5 g/L HBOC. HBOC interference in coagulation tests was method-dependent-fibrometer-based methods on the BBL Fibro System were free from interference, but optical-based methods on the MLA 1000C exhibited interferences at 20 g/L HBOC. A 1:20 dilution of the PFC-based oxygen carrier (600 g/L) caused no interference on any of these chemistry or immunoassay tests except for amylase and ammonia on the Vitros 750 and plasma iron on the Hitachi 747.
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PMID:Effect of hemoglobin- and Perflubron-based oxygen carriers on common clinical laboratory tests. 929 68

Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This disease is characterized by growth retardation, hepatomegaly, hypoglycemia, hyperlipidemia, and lactic acidosis. In this study, we report mutations in the G6Pase gene in 8 of 25 Brazilian patients with clinical symptoms of GSDIa. Five previously described mutations (R83C, Q347X, V338F, D38V, and G68R) were detected. The two most common mutations identified were R83C and Q347X, accounting for 8 of 14 (57.14%) mutant alleles. A 1,176 single-nucleotide polymorphism and two intronic mutations (IVS3-58T>A and IVS4+10G>A) were also analyzed. We used the minigene strategy in order to verify the effect of these intronic mutations on the splicing mechanism. This study emphasizes that molecular genetic analysis is a reliable and convenient alternative to the assay of enzyme activity in a fresh liver biopsy specimen for diagnosing GSDIa.
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PMID:Glycogen storage disease type Ia: molecular study in Brazilian patients. 1131 May 82

Study aim was to investigate the association of lipoprotein (a) [Lp(a)] level with the development of cardiovascular complications in long-term follow-up period after coronary artery bypass grafting (CABG). Patients with chronic ischemic heart disease (IHD) (n = 361, 88% men, mean age 55 +/- 9 years) who had had CABG were included in the study. Before surgery we assessed presence of classical risk factors, left ventricular ejection fraction, concentrations of lipids and Lp(a) in blood serum. During follow-up (from 1 to 140, mean 66 +/- 34 months) we registered cardiac deaths, nonfatal myocardial infarctions (MI), strokes, repeat procedures of revascularization, and hospitalizations due to relapse or progression of angina pectoris. Information on prognosis was obtained from 263 patients. In 109 of them we registered 142 serious events including cardiac death n = 20 (14%), nonfatal MI n = 14 (10%), myocardial revascularization (n = 35), 29 (20%) with stenting), repeat CABG n = 6 (4%), hospitalization due to angina pectoris n = 53 (37%), stroke n = 4 (3%), noncardiac outcome n = 16 (10%). In subjects with hyperlipidemia (a) [HLp(a) - Lp(a) > 30 mg/l] survival after CABG was lower (log rank p < 0.001): 11 of 93 (11.3%) and 9 of 170 (5.2%) patients died among those with Lp(a) > 30 and < 30 mg/I, respectively. Relative risk (RR) of any cardiovascular complication was 3.24 (95% confidence interval [CI] 2.18 to 4.83, p < 0.001), of death - 2.89 (95% CI 1.31 to 6.35, p < 0.01), and of MI A 1.01 (95% CI 1.00 to 1.02; p = 0.02). RR of development of MI and cardiac death in patients with HLp(a) in 5 years was 2.61 (95% CI 1.11 to 5.74; p = 0.02), in 10 years - 2.95 (95% CI 1.50 to 5.79; p < 0.001). In patients with chronic IHD high level of Lp(a) can serve as independent predictor of unfavorable events including death and nonfatal MI during 10 years after CABG.
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PMID:[High level of lipoprotein (a) as a predictor of poor long-term prognosis after coronary artery bypass surgery]. 2162 97

PURPOSE We wanted to determine whether an intervention based on patient activation and a physician decision support tool was more effective than usual care for improving adherence to National Cholesterol Education Program guidelines. METHODS A 1-year cluster randomized controlled trial was performed using 30 primary care practices (4,105 patients) in southeastern New England. The main outcome was the percentage of patients screened for hyperlipidemia and treated to their low-density lipoprotein (LDL) and non-high-density lipoprotein (HDL) cholesterol goals. RESULTS After 1 year of intervention, both randomized practice groups improved screening (89% screened), and 74% of patients in both groups were at their LDL and non-HDL cholesterol goals (P <.001). Using intent-to-treat analysis, we found no statistically significant differences between practice groups in screening or percentage of patients who achieved LDL and non-HDL cholesterol goals. Post hoc analysis showed practices who made high use of the patient activation kiosk were more likely to have patients screened (odds ratio [OR] = 2.54; 95% confidence interval [CI], 1.97-3.27) compared with those who made infrequent or no use. Additionally, physicians who made high use of decision support tools were more likely to have their patients at their LDL cholesterol goals (OR = 1.27; 95% CI, 1.07-1.50) and non-HDL goals (OR = 1.23; 95% CI, 1.04-1.46) than low-use or no-use physicians. CONCLUSION This study showed null results with the intent-to-treat analysis regarding the benefits of a patient activation and a decision support tool in improving cholesterol management in primary care practices. Post hoc analysis showed a potential benefit in practices that used the e-health tools more frequently in screening and management of dyslipidemia. Further research on how to incorporate and increase adoption of user-friendly, patient-centered e-health tools to improve screening and management of chronic diseases and their risk factors is warranted.
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PMID:Translating cholesterol guidelines into primary care practice: a multimodal cluster randomized trial. 2208 64