Deformation of a renormalization-group equation applied to infinite-order phase transitions

By adding a linear term to a renormalization-group equation in a system exhibiting infinite-order phase transitions, asymptotic behavior of running coupling constants is derived in an algebraic manner. A benefit of this method is presented explicitly using several examples.Comment: 6 pages, 5 figures, revtex4, typo corrected, references adde

Opsporing van patiënten met familiaire hypercholesterolemie in Nederland

To inventory the possibilities of tracing relatives of patients with familial hypercholesterolaemia (FH) by means of family tree research and DNA diagnostics. Descriptive. Blood from patients with the clinical diagnosis of 'FH' was sent, through one of the lipid outpatient clinics in the country, to the Foundation for Tracing Hereditary Hypercholesterolaemia (StOEH) for DNA examination, to characterize the genetic defect. If a mutation was diagnosed in this index patient, he was invited by telephone by a StOEH staff member to have DNA testing done in relatives (especially those of the first degree). The data were stored in a data base. The analysis concerns the patients approached in 1994-1997, as well as those in whom the serum concentration of LDL cholesterol was also determined in 1993-1995. A total of 3013 persons were approached and examined: 146 index patients and 2867 relatives. The DNA diagnosis of 'FH' was made in 1067 relatives (37.2%), 585 (54.8%) women and 482 (45.2%) men. Of these, 21.2% were younger than 20 years, 37.0% 20-39 years, 26.6% 40-59 years and 15.2% > or = 60 years; 44.1% reported being known with a raised cholesterol level, 29.4% were treated with cholesterol-reducing drugs and 6.1% were suffering from a cardiovascular disease. Of the 990 persons in whom the serum LDL cholesterol level was determined, 325 (32.8%) were carriers of a mutation in the LDL receptor gene. 21.2% Of them had a LDL cholesterol level P95. Tracing FH patients is feasible in practice and leads to detection of as yet untreated patient

A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia

Context: Individuals with the functional ER22/23EK variant in the glucocorticoid receptor gene are relatively resistant to the downstream consequences of glucocorticoids. Evidence suggests that carriers have a more favorable cardiovascular risk profile, but the relationship between this ER22/23EK variant and cardiovascular disease has not been hitherto assessed. Objective: We, therefore, determined whether carriership of the ER22/23EK improves cardiovascular disease risk in patients with severe hypercholesterolemia. Design, Setting, and Participants: In a multicenter cohort study, 2024 patients with heterozygous familial hypercholesterolemia, aged 18 yr and older, were genotyped for the ER22/23EK polymorphism. Patients were identified at lipid clinics throughout The Netherlands between 1989 and 2002. Main Outcome Measures: The primary outcome measure was cardiovascular disease. Results: Seventy-six (7.8%) of 977 men and 72 (6.9%) of 1047 women were carriers of the ER22/23EK variant. A total of 395 men and 247 women had a cardiovascular event. In contrast to expected results, we observed no significant association of the ER22/23EK variant with cardiovascular disease risk (men: relative risk, 0.75; 95% confidence interval, 0.50-1.14; P = 0.2; women: relative risk, 1.37;95%confidence interval, 0.82-2.28;P = 0.2). However, we found a significant interaction between gender and the polymorphism on cardiovascular disease (P = 0.02). Conclusions: In this large cohort of individuals with very high risk of cardiovascular disease, the association between the functional ER22/23EK polymorphism and cardiovascular risk was not significant overall, although it varied significantly by gender. Copyrigh

Is opsporing en behandeling van familiaire hypercholesterolemie geindiceerd bij kinderen ?

Familial hypercholesterolaemia (FH) is a congenital metabolic disorder predisposing to severe atherosclerosis resulting in coronary heart disease sometimes even at early adult age. Children with FH lack the stigmata at physical examination and measuring the cholesterol level does not always enable the clinician to make the diagnosis. In about 70% of the cases, the diagnosis of FH in childhood can be made by means of molecular-biological examination, by demonstrating the underlying defect of the LDL cholesterol receptor gene. In the remaining cases, the combination of the positive family history for cardiovascular diseases and increased total cholesterol and LDL cholesterol levels should suggest the diagnosis of FH. Pharmaceutical agents inhibiting the cholesterol synthesis have been researched very little in children and are not registered in the Netherlands. Nevertheless, drug treatment of children with FH is advisable because of the better possibilities to make a definite diagnosis and the early occurrence of coronary heart disease. If this treatment were indicated before patients reach adult age, the question arises whether screening for FH of children in families in which this disorder prevails, should not be promoted more strongl

Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin

Vascular Biology and Interventio