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B Mercier

Publications and source records attributed to B Mercier.

At least 73 records · Page 4Linked to original sources
PubMed1996

Multicenter clinical experience with the development of a novel short coronary stent and its prototype device.

Our initial experience with the Micro Stent PL and its prototype intracoronary stent is described. A total of 206 stents were implanted in 84 patients for threatened closure or restenosis following balloon angioplasty. The stenting procedure was successful and uncomplicated in 83 of 84 patients. Potential advantages of this particular stent relate to its short length, low surface area, expandability over a range of diameters, radiopacity, low profile, and ease of delivery.

Angioplasty, Balloon, Coronary↗
PubMed1996

Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.

The TP53 gene is the most frequently mutated gene in human cancers. Barrett's esophagus provides an excellent model by which to understand the genetic events that lead from dysplasia to cancer. We screened for mutations in the TP53 gene by a combination of denaturing gradient gel electrophoresis and DNA sequencing in ten cases of adenocarcinoma arising in Barrett's mucosa. We have identified missense mutations in five of the ten samples, three transitions (R282W, G245S, R248W) and two transversions (E286Q and C176F). In one case we have analyzed biopsy specimens taken from the same site, one year before the patient developed an intra mucosal carcinoma. The mutation that was identified in this high grade dysplastic area was identical to that detected in the cancer. This would suggest TP53 mutations occur as an early genetic event in the development of Barrett's adenocarcinoma.

Adenocarcinoma↗
PubMed1996

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

We have analyzed 416 normal and 467 chromosomes carrying 94 different cystic fibrosis (CF) mutations with polymorphic genetic markers J44, IVS6aGATT, IVS8CA, T854, IVS17BTA, IVS17BCA, and TUB20. The number of mutations found with each haplotype is proportional to its frequency among normal chromosomes, suggesting that there is no preferential haplotype in which mutations arise and thus excluding possible selection for specific haplotypes. While many common mutations in the worldwide CF population showed absence of haplotype variation, indicating their recent origins, some mutations were associated with more than one haplotype. The most common CF mutations, delta F508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations. Recurrence was probably the case for 9 CF mutations (R117H, H199Y, R347YH, R347P, L558S, 2184insA, 3272-26A-->G, R1162X, and 3849 + 10kbC-->T). This analysis of 94 CF mutations should facilitate mutation screening and provides useful data for studies on population genetics of CF.

Cystic Fibrosis↗
PubMed1996

Lactate kinetics during passive and partially active recovery in endurance and sprint athletes.

We investigated the effects of passive and partially active recovery on lactate removal after exhausting cycle ergometer exercise in endurance and sprint athletes. A group of 14 men, 7 endurance-trained (ET) and 7 sprint-trained (ST), performed two maximal incremental exercise tests followed by either passive recovery (20 min seated on cycle ergometer followed by 40 min more of seated rest) or partially active recovery [20 min of pedalling at 40% maximal oxygen uptake (VO2max) followed by 40 min of seated rest]. Venous blood samples were drawn at 5 min and 1 min prior to exercise, at the end of exercise, and during recovery at 1, 2, 3, 4, 5, 6, 8, 10, 15, 20, 30, 40, 50, 60 min post-exercise. The time course of changes in lactate concentration during the recovery phases were fitted by a bi-exponential time function to assess the velocity constant of the slowly decreasing component (tau 2) expressing the rate of blood lactate removal. The results showed that at the end of maximal exercise and during the 1st min of recovery, ET showed higher blood lactate concentrations than ST. Furthermore, ET reached significantly higher maximal exercise intensities [5.1 (SEM 0.5) W.kg-1 vs 4.0 (SEM 0.3) W.kg-1, P < 0.05] and VO2max [68.4 (SEM 1.1) ml.kg-1.min-1 vs 55.5 (SEM 5.1) ml.kg-1.min-1, P < 0.01]. There was no significant difference between the two groups during passive recovery for tau 2. During partially active recovery, tau 2 was higher than during passive recovery for both groups (P < 0.001), but ET recovered faster and sooner than ST (P < 0.05). Compared to passive recovery, the tau 2 measured during partially active recovery was increased threefold in ET and only 1.5-fold in ST. We concluded that partially active recovery potentiates the enhanced ability to remove blood lactate induced by endurance training.

Adult↗
PubMed1996

Lactate uptake by forearm skeletal muscles during repeated periods of short-term intense leg exercise in humans.

We investigated the role of the forearm skeletal muscles in the removal of lactate during repeated periods of short-term intensive leg exercise, i.e. a force-velocity (FV) test known to induce a marked accumulation of lactate in the blood. The leg FV test was performed by seven untrained male subjects. Arterial and venous blood samples for determination of arterial ([la-]a) and venous ([la-]v) plasma lactate concentrations were concomitantly taken at rest before the test, during the FV test at the end of each period of intensive exercise just before the 5-min between-sprint recovery period, and after the completion of the test at 2, 4, 6, 8, 10, 15, and 20 min of the final recovery. The arteriovenous difference in concentration for plasma lactate ([la-]a-v) was determined for each blood sample. During the test, [la-]a and [la-]v increased significantly (P < 0.001; P < 0.001) with significantly higher values for [la-]a (P < 0.001). At the onset of the test, [la-]a-v became positive and increased up to a braking force of 6 kg, correlating significantly with [la-]a (r = 0.61, P < 0.001) with power (r = 0.58, P < 0.001) during the test. At the end of the test, [la-]a, [la-]v and [la-]a-v decreased (P < 0.001; P < 0.001; P < 0.001 respectively) but were still higher than the basal values after 20-min of passive recovery. In conclusion, forearm skeletal muscles would seem to have been involved in the removal of lactate from the blood during the leg FV test, with an increase in lactate uptake proportional to the increase in plasma lactate concentration and power.

Adult↗
PubMed1996

Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany.

Microsatellite haplotypes were determined for 117 chromosomes carrying the four most frequent mutations in the cystic fibrosis (CF) gene identified in the Breton population of Celtic origin, as well as for 83 normal chromosomes (noncarriers of a CF mutation). Each of the three non-delta F508 mutations was associated with a single haplotype: 1078deIT with 16-31-13, G55ID with 16-7-17, and W846X with 16-32-13. Although these results suggest identity-by-descent for each mutation, recurrent mutations, although unlikely, could not be completely ruled out. The four most frequent haplotypes on normal chromosomes and the three most frequent haplotypes on delta F508 chromosomes are the same as those found in Ireland, Spain, and Italy. This suggests that some haplotypes, associated or not with the delta F508 mutation, were present in an ancestral population from which all four populations descended.

Cystic Fibrosis↗
PubMed1996

Anaerobic exercise components during the force-velocity test in sickle cell trait.

Incremental exercise tests have shown no difference in exercise capacity (EC), maximal oxygen uptake (VO2max), and ventilatory threshold (VT) in subjects with sickle cell trait (SCT) when compared to controls with normal hemoglobin (Hb). Nevertheless, during long and strenuous exercise testing, subjects with SCT exhibit comparable EC but lower oxygen uptake (VO2). Consequently, specific metabolic adaptations in subjects with SCT have been suggested during endurance exercise, consisting of a slight "handicap" in oxygen consumption and compensation by the hypothetical development of a higher anaerobic metabolism. The purpose of the present study was to research differences in the anaerobic exercise performance, and the anaerobic exercise metabolism between 9 sedentary black males with SCT and 9 controls with normal Hb. The two groups of subjects were matched for morphological and hematological variables and for aerobic fitness. The subjects were tested using the force-velocity test (FV test) characterized by the repetition of 6-s maximal exercise bouts on a cycle ergometer. The anaerobic exercise performance parameters were peak anaerobic power (PAnP), maximal velocity (V0), and maximal braking force (F0). The anaerobic exercise metabolism parameters were blood lactate concentration at PAnP and peak lactate, and blood lactate kinetics during the FV test and the recovery period. The results indicated no significant difference between the SCT and control groups for PAnP (792.3 +/- 63.3 watts vs 763.8 +/- 52.5 watts), V0 (185.5 +/- 8.9 rev.min-1 vs 173.7 +/- 5.8 rev.min-1), F0 (17.1 +/- 1.2 kg vs 17.2 +/- 1.1 kg), blood lactate concentration at PAnP (5.3 +/- 0.9 mmol.l-1 vs 4.8 +/- 0.4 mmol.l-1), at peak lactate (7.0 +/- 0.9 mmol.l-1 vs 6.7 +/- 0.7 mmol.l-1), and blood lactate kinetics during the test and the recovery period. The present study indicated that sedentary subjects with SCT and controls with normal Hb had similar anaerobic exercise performance and similar anaerobic exercise metabolism. It did not confirm the hypothetical higher anaerobic metabolism suggested in subjects with SCT.

Adult↗
PubMed1996

The hereditary pancreatitis gene maps to long arm of chromosome 7.

Hereditary pancreatitis (HP) is an autosomal dominant disorder with incomplete penetrance characterized by recurring episodes of severe abdominal pain often presenting in childhood. Although this disorder has only been recently described, about 100 families have been documented worldwide. The pathophysiology of this disorder is unknown. Here, a large French family of 147 individuals (47 of whom were affected) from a four-generation kindred with HP has been examined and a genome segregation analysis of highly informative microsatellite markers has been performed. Linkage has been found between HP and six chromosome 7q markers. Maximal two point lod scores between HP and D7S 640, D7S 495, D7S 684, D7S 661, D7S 676 and D7S 688 were 4.00 (theta = 0.143), 5.85 (theta = 0.143), 4.91 (theta = 0.156), 8.58 (theta = 0.077), 8.28 (theta = 0.060), 4.40 (theta = 0.169), respectively. Multipoint linkage data combined with recombinant haplotype analysis indicated that the most likely order is: D7S 640-D7S 495-D7S 684-D7S 661-D7S 676-D7S 688, with the HP gene situated in the underlined region. As in all families reported in the literature, the clinical presentation of the disease is identical to the presentation of sporadic cases, one could expect that the knowledge of the HP gene could be a clue to pancreatitis in general. Based on its map position, this is the first step towards the positional cloning of the Hereditary Pancreatitis Gene (HPG).

Chromosome Mapping↗
PubMed1996

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.

The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority of patients, related to defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD patients either are compound heterozygotes (carrying different mutations in their two CFTR genes) or carry a mutation in one of their CFTR genes and an intron 8 5T splice variant, associated with low levels of functional CFTR protein, in their second gene. The relationship between cystic fibrosis (CF) and CBAVD requires a proper clinical examination of the patient, a CFTR mutation analysis for himself and his family and genetic counselling. A mutation analysis should also be performed for the wives of CBAVD males because such couples now have the possibility of having their own genetic children but are at increased risk of having children with CF and/or CBAVD. The aetiology of some conditions of CBAVD is not related to CF, especially when CBAVD is associated with urinary tract malformations (up to 20% of cases). In couples with CBAVD not related to CF there is no increased risk of CF children, but it is not known whether they have an increased risk of having sons with CBAVD. In some of the patients with congenital unilateral absence of the vas deferens (CUAVD) the condition is also related to CF, especially in cases where there is an occlusion of the palpable vas. The CFTR gene is probably not involved in the aetiology of Young's syndrome. Follow-up studies of children born to couples where the males have CBAVD, CUAVD or Young's syndrome are mandatory and will help to better define the risk to their offspring of CF and/or of inheriting their paternal infertility condition.

Cystic Fibrosis↗
PubMed1995

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

BACKGROUND: Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene. METHODS: To investigate CBAVD at the molecular level, we have characterized the mutations in the CFTR gene in 102 patients with this condition. None had clinical manifestations of cystic fibrosis. We also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls. RESULTS: Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T allele. Fifty-four patients had a mutation in one copy of CFTR, and 34 of them (63 percent) had the 5T allele in the other CFTR gene. In 29 patients no CFTR mutations were found, but 7 of them (24 percent) had the 5T allele. In contrast, the frequency of this allele in the general population was about 5 percent. CONCLUSIONS: Most patients with CBAVD have mutations in the CFTR gene. The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD: The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men.

Alleles↗
PubMed1995

Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.

To date, a large number of mutations causing the disease, cystic fibrosis, have been reported worldwide. Having analysed the coding sequence of a sample of cystic fibrosis (CF) patients from Russia, we have identified three novel CF mutations. Two of them, 175 del C in exon 1 and 624 del T in exon 5, are frameshift mutations, predicted to result in premature termination of the CFTR transcript. The third mutation is missense and occurs in exon 12 (D572N). The profile of mutations in this sample of Russian CF patients is particular, with two mutations in exon 13 (2143 del T and 2184 ins A), accounting for 12% of the non-delta F508 alleles.

Alleles↗
PubMed1995

Aerobic and anaerobic contribution to Wingate test performance in sprint and middle-distance runners.

We investigated the aerobic and anaerobic contributions to performance during the Wingate test in sprint and middle-distance runners and whether they were related to the peak aerobic and anaerobic performances determined by two commonly used tests: the force-velocity test and an incremental aerobic exercise test. A group of 14 male competitive runners participated: 7 sprinters, aged 20.7 (SEM 1.3) years, competing in 50, 100 and 200-m events and 7 middle-distance runners, aged 20.0 (SEM 1.0) years, competing in 800, 1,000 and 1,500 m-events. The oxygen uptake (VO2) was recorded breath-by-breath during the test (30 s) and during the first 20 s of recovery. Blood samples for venous plasma lactate concentrations were drawn at rest before the start of the test and during the 20-min recovery period. During the Wingate test mean power (W) was determined and three values of mechanical efficiency, one individual and two arbitrary, 16% and 25%, were used to calculate the contributions of work by aerobic (Waer,ind,16%,25%) and anaerobic (Wan,ind,16%,25%) processes. Peak anaerobic power (Wan,peak) was estimated by the force-velocity test and maximal aerobic energy expenditure (Waer,peak) was determined during an incremental aerobic exercise test. During the Wingate test, the middle-distance runners had a significantly greater VO2 than the sprinters (P < 0.001), who had significantly greater venous plasma lactate concentrations (P < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequences of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A---> T). Each has only been found once in this sample of CF patients.

Alleles↗
PubMed1995

HLA class II typing and idiopathic IgA nephropathy (IgAN): DQB1*0301, a possible marker of unfavorable outcome.

Previous studies have reported associations between HLA antigens and Idiopathic IgA Nephropathy (IgAN). Nevertheless most of the studies were performed by serology. Thus we decided to perform the HLA class II typing of 58 patients by molecular biology techniques. We report a small increase of DRB1*04. But the main result of our study is the identification of a strong association between HLA DQB1*0301 and IgAN patients with an unfavorable outcome.

Gene Frequency↗
PubMed1995

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier (delta F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD.

Alleles↗
PubMed1995

[Peripheral neurological complications of Epstein-Barr virus infection].

Neurological complications associated with infectious mononucleosis, although well described, are rare. We report a patient with a meningo-radiculitis due to Epstein-Barr virus. A review of published literature on neurological manifestations associated with the Epstein-Barr virus is presented.

Adult↗