Tumor necrosis factor-alpha in human immunodeficiency virus-infected patients: correlations with opportunistic infections and immunologic status.
Explore the source record for details and available documents.
AIDS-Related Opportunistic Infections↗
Biomedical subjects
M Clerc
Publications and source records attributed to M Clerc.
Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.
We have identified the molecular defect in two siblings presenting with classical clinical and biochemical features of Fish Eye disease (FED), including corneal opacities, HDL cholesterol < 10 mg/dl, normal plasma cholesteryl esters, and elevated triglycerides. In contrast to previously reported patients with FED who are unable to esterify HDL-associated cholesterol, our patients' plasma lecithin-cholesterol acetyltransferase (alpha-LCAT)-specific activities assayed using an HDL-like proteoliposome substrate were 12.7-25.7 nmol/micrograms (19.5 +/- 1.8 in controls). In addition, significant residual cholesterol esterification was present in VLDL/LDL-depleted plasma, confirming the presence of HDL-associated alpha-LCAT activity. DNA sequence analysis of the proband's LCAT gene identified deletion of the triplet coding for leu300, which resulted in the loss of a restriction site for MlnI. Digestion of PCR-amplified DNA using MlnI established that both siblings are homozygous for this defect. Expression of LCAT300-del. in human embryonic kidney-293 cells revealed normal mRNA and intracellular LCAT concentrations. However, reduced amounts of LCAT300-del., which had a normal specific alpha-LCAT activity, were present in the media. In summary, we report the first case of FED associated with a mutant enzyme that has a normal alpha-LCAT-specific activity. The functional significance of this LCAT gene defect has been established in an in vitro expression system, which demonstrates that very small amounts of this functional LCAT mutant enzyme accumulate in the media. Characterization of LCAT300-del. established that selective alpha-LCAT deficiency is not a prerequisite for the development of FED. On the basis of our combined results, we propose that the residual amounts of total plasma LCAT activity and not its distribution on lipoproteins primarily determines the heterogeneity in phenotypic expression observed in familial LCAT deficiency syndromes.
Base Sequence↗
[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease].
A Fish-Eye Disease family has been recently discovered in Bordeaux, being made up 3 homozygous and 3 heterozygous patients for a recessive hereditary anomaly of LCAT. The influence of the enzyme on the plasma lipoprotein composition and its role in cholesterol efflux explain, at least for a part, the pathophysiology of the lipidic corneal clouding which is the single symptom in the homozygous patients. The comparison of the molecular biology data resulting from the analysis of the patient's LCAT gene with those which have been obtained in other FED patients as in patients with classic LCAT deficiency allows to differenciate biochemically both pathologies. It allows too the differentiation between primary and secondary (Tangier disease, apo A-I deficiency, A-I and C-III deficiency) LCAT deficiencies, which may be all associated with a Corneal arcus. The profile of the lipidic parameters most often measured in plasma (Total cholesterol, HDL-cholesterol, cholesterol esterification rate, lipidogramme, apo A-I, apo A-II, LCAT mass and activity) is practically pathognomonic of this affection and consequently authorizes its differential diagnosis. In spite of the striking deficiency of HDL as of their atherogenesis preventing markers these patients do not show any sign of early cardio vascular disease.
Arcus Senilis↗
Discriminant analysis of urinary calculi by near-infrared reflectance spectroscopy.
Near-infrared reflectance analysis has been used to determine the qualitative and semi-quantitative composition of urinary calculi. This simple method requires calibration of the most common urinary calculi. Analysis time is short (less than 1 min) and only very small amounts of calculus in powder form (less than 100 micrograms) are required without the use of any reagent. Moreover, when compared to infrared spectroscopy, this method provides sufficient accuracy to identify mixed calculi containing two or three components, and permits semi-quantitative determinations. The speed and simplicity of this technique makes it a powerful method for the routine analysis of urinary calculi in clinical laboratories.
Chemistry, Clinical↗
Phosphorus-31 nuclear magnetic resonance of isolated rat liver during hypothermic ischemia and subsequent normothermic perfusion.
The effects of prolonged hypothermic ischemia and subsequent normothermic perfusion on the energetic metabolism and intracellular pH (pHin) of isolated rat livers were studied by phosphorus-31 nuclear magnetic resonance spectroscopy. Nucleoside triphosphate (NTP) depletion and intracellular pH were studied within an 18-h-storage phase, by using the following preservation media: Eurocollins (EC), UW Lactobionate (UW) and Bretschneider's solution (HTK). Values obtained after 8-h ischemia were chosen to estimate the performance of the various media: NTP levels were 37 +/- 7%, 10 +/- 5% and 0% of control levels, respectively, in livers stored in UW, HTK and EC solutions. pHin reached values of 7.15 +/- 0.10 in UW and HTK, and 6.96 +/- 0.10 in EC-stored livers. Ischemic damage was assessed by reperfusing the stored organ with Krebs medium: NTP recovery was around 70 +/- 20% for the three solutions used. Recovery of pHin was near the control value (7.23 +/- 0.08), except for EC solution (7.05 +/- 0.20). The main results are that (i) the rates of NTP and pHin decrease are strongly dependent on the nature of the preservation solution, whereas (ii) NTP recovery is not significantly different during post-ischemic reperfusion. With regard to animal survival, UW solution is at present considered largely superior to EC medium for liver preservation. Thus, our data suggest that the rates of NTP depletion and pHin fall during cold preservation could be both considered as better indicators assessing liver injury than the post-ischemic NTP recovery.
Adenosine Triphosphate↗
A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features.
Fish-eye disease (FED) is a rare familial condition characterized by progressive bilateral corneal clouding and dyslipoproteinemia previously described in one family and an unrelated woman of Swedish descent. Biochemical studies have clearly demonstrated the existence of this entity as a unique dyslipoproteinemia. We present a non-Swedish family of Mediterranean ancestry afflicted with bilateral corneal clouding and lipoprotein analysis consistent with FED-like state. This family's biochemical profile, corneal button histology, and electron microscopy of one member are reviewed. Other dyslipoproteinemias causing corneal changes are considered. Corneal tissue and familial biochemical analyses differed significantly from previous descriptions. On the basis of these findings, explanation of pathologic deposition and disease mechanism is proposed.
Adolescent↗
[Antioxidant and/or free radical scavenger vitamins in tropical medicine].
Antioxidant and/or free radical scavenger vitamins (A, E) as beta carotene are unequally distributed among intertropical peoples from Africa. In Ivory coast for example the values observed are clearly enhanced in the regions where Palm oil is usually eaten than in savanna regions. Primary liver cancer (PLC) is more frequently observed in savanna regions. Furthermore it has been recently suggested that retinoic acid which is derived from vitamin A and beta carotene could interact with the genes which are involved in the primary liver carcinogenesis. In PLC patients as in subjects suffering from sickle cell anaemia, malaria, kwashiorkor or marasmus, and AIDS, the plasma levels of vitamin A, Vitamin E and beta carotene are decreased. Though disturbances in the digestion of fats that may be observed in some pathologies (mainly in Kwashiorkor) affect the discussion of the results, haemolysis and/or acute phase reaction with increased respiratory burst are always observed. That explain, at least in part, the lowering of lipophilic-antioxidant-vitamin plasma levels. As a consequence crude palm oil addition or vitamin A and E therapy would enhance the natural defences against the deleterious effects of the oxidative stress induced by these affections. It is worth checking about.
Adolescent↗
[First observations on the main plasma parameters of oxidative stress in homozygous sickle cell disease].
The present study report 7 cases of sickle homozygous disease which have been analysed using markers of the oxidative-stress, 26 african male subjects were studied: 7 Hb SS subjects (age: m = 20) and 19 control subjects (Hb AA, age: m = 40). Plasma concentrations of F-MDA, T-MDA, TBARS, alpha tocopherol, retinol and beta carotene were measured. Plasma MDA and TBARS mean levels increased in sickle homozygous patients more than in controls. However, only TBARS mean concentrations were significantly increased between patients and controls: TBARS: 4.14 +/- 1.49 nMol/ml for Hb SS versus 2.10 +/- 1.21 nMol/ml for Hb AA (P less than 0.005). Vitamin A and vitamin E concentrations were significantly lower in Hb SS than in Hb AA. Beta carotene was significantly increased in patients vs controls. The significant increase of TBARS explains the great importance of the oxidative damage, whereas the significant decrease of vitamins A and E, may contribute, at least for a part, to maintain the autoxidation process or reveals its intensity in these patients.
Adolescent↗
A nuclear magnetic resonance study of thermal transition during reperfusion of rat liver preserved in bretschneider's solution.
Explore the source record for details and available documents.
Adenosine↗
Familial hypocholesterolemia and HDL deficiency.
Explore the source record for details and available documents.
Adult↗
Heterogeneity of HDL in crossed immunoelectrophoresis with continuous gradient polyacrylamide gel in the first dimension and one or two antibody layers in the second dimension.
We describe a new method of immunoelectrophoresis with a continuous gradient polyacrylamide gel in the first dimension and an agarose-dextran gel in the second dimension with one or two layers of antibody. The use of a polyacrylamide gel in the first dimension allows better resolution of lipoproteins than with crossed immunoelectrophoresis using agarose gel in both dimensions. The use of two layers of antibody in the second dimension also enhances the specificity of characterization and the resolution of the separation. Thus, using a layer of anti-apo A-I combined with a layer of anti-apo A-II, three particles containing only apo A-I and three containing both apo A-I and A-II could be separated.
Adult↗
A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features.
A Caucasian family of mediterranean origin comprising a patient whose parents were first cousins, his wife and their three children, and his two sisters have been studied. The patient and his two daughters were afflicted with the same corneal opacities and hypoalphalipoproteinaemia. The disease was shown to be transmitted as a non-sex-linked recessive trait. The corneal opacities develop at the end of the second decade of life and consist of numerous minute greyish dots in the entire corneal stroma that give the cornea a misty appearance. Vision slowly deteriorated from 40 years of age. At about 50 years of age, except in one of the two daughters who showed Marfanoid syndrome, the three patients had good general health and no symptoms of atherosclerosis. Biochemical investigations showed hypoalphalipoproteinaemia (with a faint fast-moving HDL band on polyacrylamide gel gradient electrophoresis and small arcs of HDL2 and HDL3 of low mobility determined by agarose gel immunoelectrophoresis), low total cholesterol (3.5-4.9 mmol l-1), slightly decreased cholesteryl ester/total cholesterol ratio (0.52-0.63), extremely low HDL cholesterol (0.20-0.21 mmol l-1), mild hypertriglyceridaemia (1.94-3.80 mmol l-1), and striking deficiency in apo A-I and apo A-II (0.45-0.72, 0.08-0.16 g l-1, respectively). The esterification of HDL cholesterol was low while that of LDL and VLDL was nearly normal. Other laboratory values were normal. The HDL subspecies and major apolipoprotein isoforms have been studied to differentiate FED from Tangier disease, LCAT deficiency, as Apo A-I, A-II, C-II, C-III deficiencies and variants.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗
[Iconographic rubric. Acute lithiasic pancreatitis, exceptional cause of abdominal pain crisis in sickle cell anemia patient].
Explore the source record for details and available documents.
Abdominal Pain↗
Free and bound malondialdehyde measured as thiobarbituric acid adduct by HPLC in serum and plasma.
Assay of free and total malondialdehyde (MDA) in human serum and plasma from healthy subjects and from patients with high risk of lipoperoxidation was performed as follows: (a) acidic (HClO4, pH 1, at 20 degrees C) or basic (NaOH, pH 13, at 60 degrees C) treatments for 30 min; (b) reaction of the protein-free extract (obtained by acid precipitation) with thiobarbituric acid (TBA); (c) HPLC separation on C18 columns with an eluting solution of methanol/phosphate buffer, 10 mmol/L, pH 5.8 (40/60, by vol), at a flow rate of 1.5 mL/min. Free MDA averaged 0.042 (SEM 0.008) and 0.043 (SEM 0.007) mumol/L, respectively, in serum and plasma from healthy subjects. Free (+/- SEM) MDA increased significantly in the plasma from cancer patients (0.270 +/- 0.047 mumol/L) and from hemodialyzed patients (0.214 +/- 0.035 mumol/L). In serum of hemodialyzed patients, analyses for total MDA were unsuitable because of interfering peaks. MDA bound to NH2 groups constituted 83.2% and 83.5% of total MDA in serum and plasma of healthy subjects, respectively, and only 58% in plasma of hemodialyzed patients.
Adolescent↗
[Brucella endocarditis of bicuspid aortic valve. Surgical treatment with successful result].
The authors report a case of Brucella Melitensis endocarditis of a bicuspid aortic valve which caused rapid progression of the hemodynamic signs of aortic stenosis, and was associated with a para-aortic abscess and a pericardial effusion. Surgery resulted in correction of the hemodynamic abnormalities and cured the infection: the results were sustained 10 months after operation. This case illustrates the precision of the Doppler, echocardiographic diagnosis of the lesions, which was confirmed at surgery so that potentially dangerous cardiac catheterisation could be avoided.
Adult↗
Discontinuous polyacrylamide gel-agarose gel immunoelectrophoresis for analysis of plasma lipoproteins.
A modification of crossed immunoelectrophoresis for the analysis of plasma lipoproteins is described and is called polyacrylamide gel-crossed immunoelectrophoresis. The incorporation of albumin in the first-dimensional gel facilitates the transfer of the larger lipoproteins containing apolipoprotein B from the first-dimensional gel to the second dimension. Furthermore, under this condition the quantitation of total apolipoprotein B by polyacrylamide gel-crossed immunoelectrophoresis is in good agreement with the results obtained by rocket immunoelectrophoresis or nephelometry. The correlation between polyacrylamide gel-crossed immunoelectrophoresis and rocket immunoelectrophoresis is good for total apolipoprotein B (p greater than 0.001) and apolipoprotein A-I (p greater than 0.001). Polyacrylamide gel-crossed immunoelectrophoresis also offers interesting aspects to study the plasma lipoprotein classes and subclasses in different cases: normal plasma, current and complex dyslipoproteinemias in the presence or absence of lipoprotein small a. In a case of dyslipoproteinemia of Fredrickson's Type V polyacrylamide gel-crossed immunoelectrophoresis demonstrates the presence of a small-sized Lp (a) major peak in the low density lipoprotein (LDL) zone and of a large-sized Lp (a) minor peak in the very low density lipoprotein (VLDL) zone.
Electrophoresis↗
A compensatory mechanism improving red cell membrane fluidity in hemodialysed patients.
A fluorescence polarization technique with 1,6-diphenyl 1,3,5-hexatriene as a fluorescent probe was used to determine the fluidity of red cell membranes from hemodialysed patients before and after dialysis. After dialysis, there was a decrease in fluidity and activation energy values revealed a significantly changed distribution. The membrane lipid composition showed a significant increase in cholesterol after dialysis (p less than 0.001) and a significant reduction in saturated fatty acids (p less than 0.01) with an increase in unsaturated fatty acids (p less than 0.05). A compensatory mechanism could be suggested involving a reduction of saturated fatty acids in response to the increase in the cholesterol/phospholipid ratio. This could lead to an optimization of membrane fluidity.
Adult↗
[Transfusion of concentrates enriched in neocytes in the thalassemic child. Preliminary results].
In this study, we compared the results of young red cells transfusion for 12 months with the administration of conventional red cells units during the year before, in three thalassemic children. We used the Neocel system (Cutter laboratories) to prepare neocytes. A quality control of neocyte units was developed: especially the phthalate oil technique which shows a 70% enrichment of young red cells. These patients received 170.4 +/- 9 ml/kg of body weight of neocytes compared with 197 +/- 20 ml/kg of body weight of conventional red cells concentrates. The mean decrease of hemoglobin transfused per kg of body weight per year was 22%. The mean pretransfusion hemoglobin level did not change during the 2 years of study. The children grow without any problem and no pathologic event occurred during the study. The control of the serological ferritin levels does not allow for definitive conclusions in the evolution of the iron overload of our three patients. However, this overload seems to decrease. It's why it's necessary to carry on with our study.
Blood Transfusion↗