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Biomedical subjects

F Ceppa

Publications and source records attributed to F Ceppa.

10 recordsLinked to original sources

Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes.

BACKGROUND: Clinical presentation and natural history of diabetes are somewhat different in Black Africans compared to Caucasians. This peculiar disease course could be at least partly related to a specific genetic profile that has not been studied in this population. METHODS: Medical backgrounds, anthropometric and biologic parameters were obtained from 69 diabetic subjects in Dakar, Senegal, in 1998. Blood anti GAD and Islet Cell Antibodies were studied, using RIA and immunofluorescence assay. The HNF-1alpha gene was sequenced searching the Gly574Ser mutation, previously described in MODY 3. RESULTS: Among these 69 diabetic patients, 11 (16%) were found to have the G574S mutation affecting the HNF-1alpha. These 11 patients carrying the mutation were compared respectively with the 58 non carriers. Mean age (57.5 yr. +/- 11 vs 51.1 yr. +/- 15) and duration of diabetes (11.9 vs 6.7 yr), were similar in the two groups. BMI was not different in patients with the mutation (26.3 vs 23.3, p=0.06). Metabolic control (Glycosylated hemoglobin) was poor in the two groups (9.5% vs 9.2%). Chronic complications were equally found in the patients, but no mutation carrier had macroangiopathy. None of the anti GAD positive or ICA positive patients had the mutation. CONCLUSIONS: The HNF-1alpha Gly574Ser mutation was found in 16% of cases in a 69 diabetic patients group in Senegal. Diabetes was as severe as in non carriers of mutation. This mutation has been implicated in atypical diabetes of Afro-American children. The study confirms its prevalence in Africans with diabetes.

Adult↗

High-performance liquid chromatographic determination of cotinine in urine in isocratic mode.

A simple procedure for the determination of cotinine, major metabolite of nicotine in urine, is described. The assay involved a liquid-liquid extraction with dichloromethane in alkaline environment. The extract was dried at ambient temperature under a gentle stream of nitrogen. The residue was dissolved in 300 microl of mobile phase and 30 microl aliquot was injected via an automatic sampler into the liquid chromatograph and eluted with the mobile phase (10-9%, v/v methanol and acetonitrile, respectively in potassium dihydrogenphosphate buffer adjusted to pH 3.4) at a flow rate of 1 ml/min on a C8 Symmetry cartridge column (5 microm, 150 mm x 3.9 mm, Waters) at 25 degrees C. The eluate was detected at 260 nm. Internal standard was 2-phenylimidazole. Sensitive and specific, this technique was performed to test urine of diabetic patients (smokers and non-smokers) admitted in an endocrinology service. Urinary cotinine seems to be a better marker of smoking status than thiocyanates.

Calibration↗

[Ecstasy: psychostimulant, hallucinogen and toxic substance].

MDMA or 3,4-methylenedioxymethamphetamine, more commonly called "ecstasy", is a drug classified as a stupefiant and increasingly used by young people for its stimulant and hallucinogen effects. This popular designer drug is often used in techno or rave parties and perceived by users as relatively harmless. It has however been associated with disorders of thermoregulation and has been the cause of several deaths. In addition, the drug has been shown to destroy serotonin receptors in the brain in the monkey and leads to serious physchiatric disorders and liver damage in man.

Animals↗

[Blood levels of homocysteine by high pressure liquid chromatography and comparison with two other techniques].

Cardio-vascular diseases are the most common cause of death in industrialized countries. A new marker has emerged among offending risk factors in the past few years: homocysteine. This sulphured amino-acid is an important intermediate in transsulphuration and remethylation reactions of methionine's metabolism. We proposed to evaluate a home made method of determination for this parameter by high performance liquid chromatography (HPLC) and to compare it to fluorescence polarization immunoassay technique (FPIA) and to gaz phase chromatography (CG-SM). This method associated with good sensibility and precision remain much less expensive than FPIA technique.

Acetylcysteine↗

[Biological monitoring of chronic hemodialysis].

Patients suffering from acute renal failure must undergo dialysis to substitute for the kidney's excretory function. Dialysis is a means of exchange between two solutions: blood and a liquid known as dialysate, across a semi-permeable membrane. This membrane permits the passage of water and aqueous solutions of low molecular weight but not that of the aqueous solutions of high molecular weight such as proteins. Dialysed patients are biologically monitored to prevent the various complications arising from blood dialysis, to check the efficacy of the treatment as well as to reduce the risk of morbidity and mortality. Because of the multiple and complex nature of renal functions, biological monitoring of a dialysis patients presents many, often inter-related facets. In addition to the complications inherent in dialysis itself, the dialysed patient is exposed to other causes of mortality or morbidity such as nutritional, hematologic, cardiovascular and infectious problems. Clinicians is confronted by other complications, albeit less common and easier to control, in the form of osteoarticular troubles or even aluminium poisoning. Lastly, biological assessment of the efficacy of purifying processing depends principally on calculating the dose of dialysate and the ureic index of subtraction which, in turn, requires the measurement of uremia.

Acid-Base Equilibrium↗

[RNA isolation and purification methods].

Recent advances in human, bacterial and viral genome projects and the development of quantitative real-time reverse transcription-polymerase chain reaction methods offer the possibility of analysing a large number of gene transcripts. These molecular developments represent an important advancein the field of genetics, cancer, virology, bacteriology and hematology. A limiting step remains the isolation of high quality mRNA purified from biological samples. This review describes the different methods used to isolate mRNA from biological samples and to verify RNA integrity and gives precise details about RNA storage conditions.

Blotting, Northern↗

[Methemalbuminnemia after massive hemolysis during blackwater fever].

We report a case of blackwater fever with brown plasma due to the presence of methemalbumin. The discovery of plasma with this color is a rare event at the laboratory. This compound appears during intravascular hemolysis or hemorrhagic pancreatitis when the ability of haptoglobin and hemopexin to bind free hemoglobin has been exceeded. In these cases some of heme is oxidized to hematin and taken up by serum albumin to form an albumin-hematin complex called methemalbumin. The major clinical problem is to evoke the diagnosis of methemalbuminemia and not confuse with methemoglobinemia. In our case, methemalbumin was detected and quantified using a scanning spectrophotometer. Its diagnostic and clinicals consequences are discussed.

Anemia, Hemolytic↗