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Biomedical subjects

M Dupont

Publications and source records attributed to M Dupont.

At least 37 records · Page 2Linked to original sources
PubMed1998

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V ('MED') mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical features in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutations. We showed that homozygosity for this mutation was significantly associated with a more severe form of the disease. In homozygous patients, the disease started earlier (mean age 6.4 +/- 5 vs 13.6 +/- 8.9) and both arthritis and pleuritis were twice as frequent as in patients with one or no M694V mutation. Moreover, 3/3 patients with amyloidosis displayed two MED mutations. No association was found with fever, peritonitis, response to colchicine and erysipeloid eruption. The present result strongly suggests the potential prognostic value of the presence of this mutation.

Africa, Northern↗
PubMed1998

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mutations clustered in exon 10 (M680V, M694I, M694V and V726A), each segregating with one ancestral haplotype. In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2). Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus.

Africa, Northern↗
PubMed1998

Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study.

OBJECTIVE: A number of differences have been noted in clinical familial Mediterranean fever (FMF) among ethnic groups. Iraqi Jews and Druzes are characterized by less severe disease. The differences in disease expression raise the possibility of background genes peculiar to specific ethnic groups. METHODS: We analyzed a series of FMF linked microsatellite markers and searched for gene mutations in these 2 populations. RESULTS: We observed a conserved haplotype in 46% of the FMF druze chromosomes that was different from the Mediterranean haplotype but identical to the ARM3 haplotype. In contrast, 56% of the FMF chromosomes in Iraqi Jews displayed the same mutation as that found in Jews from North Africa. CONCLUSION: Variable expression in FMF is probably due to both allelic heterogeneity and/or modifier genes as well as environmental factors.

Adolescent↗
PubMed1997

Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.

Familial Mediterranean fever is an autosomal recessive disease characterised by multiple attacks of serosal inflammation in the absence of treatment. In the absence of timely diagnosis, renal amyloidosis is a life threatening complication. The diagnosis is often missed because no specific test is available. Early colchicine treatment prevents attacks and renal complications. The FMF gene (MEF) has been mapped to chromosome 16p 13.3 but has not yet been identified. We compared the suitability of a series of microsatellite markers (four of them were new) and propose the routine use of seven of these markers, exhibiting alleles in strong linkage disequilibrium with the disease and informative in 100% of diagnosed patients. Moreover, the discovery of a homozygous status for the 3-3-9 (or 3-3-18) haplotype at the core loci (D16S3070, D16S3082, and D16S3275), which was found in 73% non-Ashkenazi Jewish patients, points to a diagnosis of FMF, even in sporadic cases, with a risk of error of only 2.10(-5). Two extensive pedigrees covering most indications for genetic counselling are presented, showing that it is now possible both prospectively and retrospectively to identify members likely to have MEF mutations. With the help of this accurate test, colchicine treatment can be better targeted, especially where the symptomatology is mild or atypical.

Chromosome Mapping↗
PubMed1996

[Anesthesia for cataract surgery. Result of a national survey].

OBJECTIVES: In order to evaluate the impact of recent progress in anesthesia and cataract surgery, we conducted a national survey in France to determine which techniques are used. METHODS: A questionnaire was sent to the most representative French ophthalmology teams: 66 teams participated in the survey. RESULTS: Seventy-one percent of the surgeons routinely used phacoemulsification: 91% of the anesthesists prefer locoregional anesthesia: contraindications most often involved general health status (89%). Ambulatory anesthesia was preferred by 16.7% of the teams. CONCLUSION: Phacoemulsification under peribulbal anesthesia is currently the technique most frequently used in cataract surgery in France. Ambulatory anesthesia is not yet widely used for this type of surgery.

Adult↗
PubMed1996

Anaesthesiological manpower in Europe.

Information about physician anaesthesiologist manpower in the countries of the European Union was collected from questionnaires sent to the delegates representing their respective countries on the European Board of Anaesthesiology. In the countries of the European Union and Switzerland and Norway 40,259 specialist anaesthesiologists are recorded. The number of anaesthesiologists in relation to population varies between as little as 4.4 and 4.6 (Ireland and UK) and as many as 15.6 (Italy), with a mean of 10.8/100,000 inhabitants. There are 11,610 physicians recorded in training in anaesthesiology. The ratio of trainees to specialists in the European Union countries was 28.8/100, varying from as low as 6.5 in France, to as high as 96.7 and 98/100 in Ireland and the UK respectively. These figures indicate a wide difference in the numbers of specialists and trainees between the European countries studied. However, the overall mean figure is close to that reported in the USA (9.2/100,000).

Adult↗
PubMed1996

Preglomerular sudanophilia in L-NAME hypertensive rats: involvement of endothelin.

To characterize alterations of renal vessels occurring during systemic hypertension elicited in rats by 5, 10, and 25 days of treatment by the nitric oxide synthase inhibitor N(G)-nitro-L-arginine methyl ester (L-NAME)(20 mg/kg daily), preglomerular vasculatures, consisting of arcuate arteries and their branches, interlobular arteries, and afferent arterioles, were isolated by HCl maceration. Blockade of nitric oxide synthase significantly increased tail-cuff systolic blood pressure by 21 +/- 2% and 42 +/- 3% after 5 and 25 days, respectively. Medias of hypertensive arcuate arterial branches and interlobular arteries but not of afferent arterioles had focal deposits of Sudan black-positive lipid droplets. At 25 days, vessel wall thickness increased by 72 +/- 6% along the sudanophilic areas. Immunostaining of sudanophilic lesions with a panel of antibodies unveiled medial cell proliferation, macrophage invasion, immunoreactive vascular cell adhesion molecule-1, and low-density lipoprotein. The frequency of sudanophilic lesions increased with time to affect 26 +/- 2% and 36 +/- 3% of arcuate arterial branches and interlobular arteries, respectively, at 25 days. Hypertensive L-NAME-treated rats developed glomerular injury probed by albuminuria and glomerular immunostaining for alpha-smooth muscle actin. Administration of the nonselective endothelin antagonist bosentan (30 mg/kg daily) blunted the development of sudanophilic lesions during L-NAME treatment without affecting arterial hypertension or degree of glomerular injury. Therefore, L-NAME hypertension leads to rapid development of focal, inflammatory, proliferative, and sudanophilic lesions along preglomerular vessels, suggesting atherosclerosis-like processes. Furthermore, endothelin is a likely mediator in the development of these lesions.

Animals↗
PubMed1995

Scanning gel densitometry of amniotic fluid acetylcholinesterase and butyrylcholinesterase: quantification of 'faint-positive' bands in fetal malformations.

The quantification of 'faint-positive' cholinesterases in amniotic fluid was performed in 40 patients with positive acetylcholinesterase (AchE) tests. Fetuses with anencephaly and open spina bifida presented an AchE/butyrylcholinesterase (A/B) ratio of more than 0.3 with clearly dense bands. Fetuses with gastroschisis showed a 'faint-positive' AchE band (A/B < 0.3). In 5 fetuses (1 teratoma, 3 open spina bifida, 1 unaffected) we found faint AchE and butyrylcholinesterase bands.

Acetylcholinesterase↗
PubMed1995

Promoting measure of nursing care workload through computerization.

In order to obtain a global approach of the patient centered activity and relative costs, we propose to add to the DRG a care workload evaluation. Such an application was developed and integrated to the automated medical record implemented in each medical department of the hospital. The "Soins Infirmiers Individualisés à la Personne Soignée" (SIIPS) indicator was chosen to estimate nursing acuity. Implementation of the application in ten departments and first results permit to demonstrate the system feasability and the fiability of this indicator. These conclusions conducted us to propose the extension of this experimentation to all the clinical departments of the hospital before the end of 1995.

Diagnosis-Related Groups↗
PubMed1994

Effect of losartan and enalapril on renal adaptation sodium restriction in rat.

The influence of losartan (10 or 30 mg.kg-1.day-1), enalapril (10 mg.kg-1.day-1), and combined treatment by losartan and enalapril on the renal adaptation to dietary sodium withdrawal was assessed in normal rats. Treatments were given by gavage for 3 days before and during the 6-day period of low-sodium (LS) diet. Cumulative sodium excretion during LS was similar in untreated and low-dose losartan groups (0.62 +/- 0.07 and 0.75 +/- 0.07 mmol/6 days), whereas it was significantly increased in groups treated by the high dose of losartan and enalapril alone or combined with both doses of losartan (1.38 +/- 0.16, 1.50 +/- 0.10, 1.37 +/- 0.16, and 1.12 +/- 0.03 mmol/6 days, respectively). A decrease in conscious systolic arterial pressure was observed in all treated groups in response to LS. At the end of LS, conscious renal blood flow (microsphere method) was similarly increased in all treated groups. Creatinine clearance decreased to a similar extent with both doses of losartan, whereas a further reduction was observed with enalapril given alone or combined with losartan. These results demonstrate that the enalapril-induced disturbance in the response of renal sodium excretion to LS is mainly related to angiotensin-mediated mechanisms. However, non-angiotensin-related actions of enalapril may contribute to the deterioration of renal function in sodium-restricted animals. In addition, a high dose of losartan is required to impair renal sodium conservation, thus suggesting that the tubular renin-angiotensin system may play a crucial role in the renal adaptation to dietary sodium withdrawal.

Adaptation, Physiological↗
PubMed1994

Anatomic pairing of afferent arterioles and renin cell distribution in rat kidneys.

Close afferent arteriolar (AA) connectivity is a prerequisite for hemodynamic interaction between superficial rat nephrons. Studies were conducted in rat, mouse, rabbit, and human renal vasculatures obtained by an HCl maceration-microdissection technique to document the extent of AA connectivity. In rat kidneys, we assessed the possibility for a slow component of internephron coupling, as reflected by arteriolar renin cell distribution after specific immunostaining for renin. In the four species examined, 51% (human) to 60% (mouse) of total AA populations were organized as vascular units consisting of mostly two AA sharing a common origin and a connecting arterial segment. In rat AA pairs, branch lengths were significantly correlated, suggesting coordinated arteriolar growth. The sum of AA branch lengths averaged 278 +/- 6 microns. Rat arteriolar renin status, ranging from no renin cells to renin-recruited midafferent arterioles, distributed in a significantly nonrandom fashion within AA pairs, and 52% of the pairs had equal renin status. Hence, AA pairing is a consistent anatomic characteristic of mammalian kidneys and may constitute an optimal vascular design for hemodynamic as well as endocrine interactions.

Animals↗
PubMed1994

Family affairs.

It's no secret that your job is stressful, forcing you to deal with tragedy and death on a regular basis. You've become good at what you do because you pay attention to details and care about people. Most of the EMS providers I've known dedicate untold hours to their work, usually in addition to the regular jobs they hold. Their communities need them to be ready at a moment's notice when the pager sounds. Someone is in crisis. A life may hang in the balance-a life they may save. But what about the family that's left behind as you run out the door-yet again? How do your spouse/significant other and kids cope with whatever emotional state you're in when you return home? While your stress may be evident, their distress may be overlooked. What price do they pay to live with you? These questions were addressed during several workshops my colleagues and I conducted for EMS providers and their families. Many of the problems and frustrations identified in this article were shared by EMTs' family members who attended.

Adaptation, Psychological↗
PubMed1993

Renal and systemic adaptation to sodium restriction in aging rats.

The influence of age on the systemic and renal adaptation to dietary sodium restriction was assessed in 10-, 20-, and 30-mo-old female WAG/Rij rats. In control conditions, mean arterial pressure (MAP) was similar in all rats and plasma renin activity (PRA) was lower in 30- than in 10- and 20-mo-old rats (2.5 +/- 0.6, 5.1 +/- 0.4, and 3.9 +/- 1.0 ng ANG I.ml-1.h-1, respectively). Dietary sodium restriction was associated with a reduction in MAP in 30-mo-old rats, whereas no change occurred in 10- and 20-mo-old rats. Impairment in the early (days 1-6) renal adaptation to salt restriction was observed in 30- compared with 10- and 20-mo-old rats (6-day cumulative sodium excretion of 728 +/- 139, 437 +/- 53, and 478 +/- 37 mumol, respectively). During the 7- to 12-day period, MAP stabilized in the oldest rats and cumulative sodium excretion became similar to that of other age groups. The early increase in PRA and urinary aldosterone excretion observed in 10- and 20-mo-old rats was consistently blunted in 30-mo-old rats. These findings suggest that the delayed response of the renin-angiotensin-aldosterone system has a major role in the impaired renal and systemic adaptation to dietary sodium removal in senescent rats.

Aging↗