Search results for "AMINO ACID"
showing 10 items of 3965 documents
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
2013
International audience; Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without detectable mutations in genes involved in the Mendelian predisposition to CRCs. We unexpectedly identified, despite the absence of clinical cardinal features of FA, a biallelic mutation of the FANCD1/BRCA2 corresponding to a frameshift alteration (c.1845_1846del…
Within subject variability of HDL-cholesterol in HIV-infected patients
2019
Background and objective: Within-subject variability of cardiovascular risk factors may influence the development of cardiovascular disease. We aimed to improve knowledge on HDL-cholesterol variability and its clinical significance in HIV-infected patients, a population at high risk of cardiovascular disease.Methods: This was a cohort study to quantify the variability of HDL-cholesterol between two consecutive visits and to determine factors associated with such variability, in a group of HIV-infected patients.Results: A total of 307 patients were included, mean ± standard deviation of their age was 45.1 ± 8.5 years, and 225 of them (73.3%) were male. The absolute difference (after squaring…
Emergence of ovulatory cycles with aging in women with polycystic ovary syndrome (PCOS) alters the trajectory of cardiovascular and metabolic risk fa…
2013
Abstract STUDY QUESTION: What alters cardiovascular and metabolic risk factors with aging in women with polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: Lipid parameters, mainly low-density lipoprotein (LDL) cholesterol, increase with aging, but not in women who attain ovulatory cycles. WHAT IS KNOWN ALREADY: Cardiovascular and metabolic parameters tend to increase with aging, but this has not been shown in a prospective longitudinal study in women with PCOS. Correlates of these changes have not been identified. STUDY DESIGN: A prospective cohort of 118 hyperandrogenic women with PCOS who were followed from the age of 20-25 years at 5 year intervals for 20 years. PARTICIPANTS/MATERIALS, SE…
Ethnic differences in serum lipoproteins and their determinants in South African women.
2010
The objective of the study was to characterize ethnic differences in lipid levels and low-density lipoprotein (LDL) particle size and subclasses in black and white South African women and to explore the associations with insulin sensitivity (S(I)), body composition, and lifestyle factors. Fasting serum lipids and LDL size and subclasses, body composition (dual-energy x-ray absorptiometry), and S(I) (frequently sampled intravenous glucose tolerance test) were measured in normal-weight (body mass index25 kg/m(2)) black (n = 15) and white (n = 15), and obese (body mass index30 kg/m(2)) black (n = 13) and white (n = 13) women. Normal-weight and obese black women had lower triglycerides (0.59 +/…
ABNORMALLY HIGH THROMBOXANE BIOSYNTHESIS IN HOMOZYGOUS HOMOCYSTINURIA. EVIDENCE FOR PLATELET INVOLVEMENT AND PROBUCOL-SENSITIVE MECHANISM.
1993
Homocystinuria due to homozygous cystathionine beta-synthase deficiency is an inborn error of metabolism characterized by a high incidence of thrombosis and premature atherosclerosis. We evaluated TXA2 biosynthesis in vivo and several in vitro tests of platelet function in 11 homocystinuric patients and 12 healthy controls. In vitro, patients' platelet aggregation was within control values as were TXB2 formation, fibrinogen binding, and ATP secretion in response to thrombin. In contrast, the urinary excretion of 11-dehydro-TXB2, a major enzymatic derivative of TXA2, was > 2 SD of controls in all patients (1,724 +/- 828 pg/mg creatinine, mean +/- SD, in patients vs. 345 +/- 136 in controls, …
Platelet-activating factor type activity in plasma from patients with septicemia and other diseases
1991
The purpose of the present study was to determine whether increased levels of platelet-activating factor (PAF) type activity can be detected in plasma from patients with septicemia and other diseases. A level of PAF below 0.5 ng/mL of plasma was considered normal. We found that plasma from a patient with adverse anaphylactoidic reaction to intravenous analgetics contained 2.1 ng PAF/mL. In seven patients with septicemia, including urosepsis, endocarditis and peritonitis, and with positive blood culture, increased plasma PAF levels (1-20 ng PAF/mL) were observed. Other patients with clinical indications of septicemia had negative blood cultures and/or increased levels of C-reactive protein (…
Increased thromboxane biosynthesis in type IIa hypercholesterolemia.
1992
BACKGROUND Increased platelet thromboxane (TX)A2 production has been described in type IIa hypercholesterolemia. To verify the relevance of these capacity-related measurements to the actual rate of TXA2 biosynthesis in vivo, we studied the urinary excretion of its major enzymatic metabolites in 46 patients with type IIa hypercholesterolemia and 20 age-matched controls. METHODS AND RESULTS Urinary 11-dehydro-TXB2 and 2,3-dinor-TXB2 were measured by previously validated radioimmunoassays. The excretion rate of 11-dehydro-TXB2 was significantly (p less than 0.001) higher in patients (68.7 +/- 35.1 ng/hr, mean +/- SD) than in controls (22.4 +/- 9.4 ng/hr), with metabolite excretion greater tha…
Autoreactive CD4+ LKM-specific and anticlonotypic T-cell responses in LKM-1 antibody-positive autoimmune hepatitis
1996
Peripheral blood mononuclear cells (PBMC) of patients with autoimmune hepatitis (AIH) and controls were studied for their proliferative response to six overlapping synthetic peptides covering the 33-amino acid immunodominant region of cytochrome P450IID6, the main target antigen of LKM-1 antibody-positive type II AIH. PBMC from 8 of 8 type II AIH patients (100%), 6 of 12 LKM-1 antibody-negative type I AIH patients (50%), but only 4 of 31 patients with chronic hepatitis C (12.9%) reacted with a 23-amino acid LKM peptide and mainly with a shorter 18-amino acid LKM peptide. Follow-up showed that LKM-specific T-cell responses decreased after immunosuppression had started. Fine specificity, HLA …
Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper-dried capillary blood of healthy children an…
1984
The concentration of phenylalanine in plasma, whole venous and capillary blood, and paper-dried blood of 75 probands (25 healthy adults, 27 healthy children, and 23 patients with hyperphenylalaninaemia) were measured by use of a sensitive short column chromatography method. The comparison of the values in each group of probands by several statistic methods showed an excellent correlation of the phenylalanine concentration in paper-dried whole blood to those measured in venous plasma. Evaluation of the analytical method revealed a high sensitivity and accuracy by use of a sample volume of 50 microliter. We would therefore suggest that the estimation of phenylalanine for the diagnosis and the…
Effect of IL-13 receptor α2 levels on the biological activity of IL-13 variant R110Q
2007
Background IL-13 is a key cytokine associated with the asthmatic phenotype. IL-13 signals via its cognate receptor, a complex of IL-13 receptor (IL-13R) α 1 chain with IL-4 receptor α; however, a second protein, IL-13Rα2, also binds IL-13. Recently a polymorphic variant of IL-13 (R110Q) has been shown to be associated with atopy. Objective To investigate the binding properties of this IL-13 variant to its cognate receptors. Methods We used surface plasmon resonance to measure the binding kinetics of R110Q to its receptors. Primary human fibroblasts were grown from endobronchial biopsies obtained from volunteers. Receptor levels were measured by fluorescence-activated cell sorting. Results T…