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Biomedical subjects

L Bernard

Publications and source records attributed to L Bernard.

At least 73 records · Page 4Linked to original sources
PubMed1998

cDNA characterization and chromosome mapping of the human GAS2 gene.

Murine Gas2 is a microfilament-associated protein whose expression is increased at growth arrest in mammalian cells. During apoptosis, Gas2 is specifically cleaved at its C-terminus by a still unknown ICE-like protease, and the processed protein induces dramatic rearrangements in the cytoskeleton when overexpressed in several cell types. Here we report the characterization of a cDNA encoding the human homologue of Gas2, showing high conservation with the murine counterpart at the protein level. Fluorescence in situ hybridization analysis and radiation hybrid mapping localized the GAS2 gene on human chromosome 11p14.3-p15.2, in a region homologous to the gas2 region on mouse chromosome 7.

Amino Acid Sequence↗
PubMed1998

Validation of the main modeling methods for the estimation of marker mean retention times in the different compartments of the gastrointestinal tract in sheep.

Four Texel wethers (60 to 64 kg) fitted with rumen and duodenal cannulae were used to compare methods for estimating mean retention times (MRT) of digesta markers. They were fed, in eight equal meals, 1,200 g of a mixture of a chopped and ground (8-mm screen) and pelleted orchardgrass hay in the ratios 90/10, 50/50, 30/70, or 10/90 according to a 4 x 4 Latin square design. Mean retention time in the stomach and in the whole tract were estimated by orally delivering pulse doses of 170Tm-labeled chopped hay, 169Yb-labeled ground hay, and [51Cr]EDTA, followed by duodenal spot-sampling and total collection of feces; calculations were done using an algebraic method. Mean retention time in the abomasum was estimated following administration of a pulse dose of the markers (169Yb-labeled duodenal particles and [51Cr]EDTA) in the abomasum via the ruminal cannula through the reticulo-omasal orifice and collecting duodenal samples. The reference value for MRT in the reticulorumen (MRTRR) was calculated by subtracting MRT in the abomasum from MRT in the stomach. For all markers, fecal excretion curves were fitted to a two-compartment age-independent model, a gamma-2 age dependent-age independent two-compartmental model, and a multicompartmental model. Comparisons were made among parameters of the models and their anatomical or physiological attributes when these were clearly defined or easily calculated. The mean retention time in the reticulorumen (MRTRR) obtained from the multicompartment model was similar to those calculated with the algebraic method whatever the sampling site and the marker used.

Animals↗
PubMed1997

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic for the Xp22.3 region, presenting with complex phenotypes. The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described. Here, we report on the clinical and molecular characterization of a patient with CDPX. The patient presented at birth with cranial and facial anomalies and short stature; an x-ray skeletal survey showed punctate calcifications and striking hand and foot abnormalities. Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product. The clinical description of patients with CDPX due to known mutation of the ARSE is of interest for the precise delineation of the clinical spectrum of the disease.

Arylsulfatases↗
PubMed1997

[Osteoarticular tuberculosis today].

The upsurge in Mycobacterium tuberculosis infection in the last 10 years has included 5 to 10% of bone and joint localizations. The AIDS epidemic has contributed considerably, but other factors appear to play a more important role. The concentration of the population and the disorganization of anti-tuberculosis campaigns have allowed the disease to flourish. Poor compliance to treatment has allowed recurrence rates to rise with the consequent risk created by the presence of chronic carriers. As demonstrated by Pertuiset et al., in this issue of La Presse Médicale the incidence of bone and joint tuberculosis is clearly higher in developing countries than in Europe. Bone and joint localizations usually result from secondary reactivation of a septic metastasis after often asymptomatic primary lung disease. Damaged articulations, particularly weight carrying joints, are preferential targets. Chronic, insidious onset in a single joint is a characteristic feature, revealed by joint pain with fever and nocturnal sweating. Acute forms are observed in transplant recipients. If treatment is initiated early enough, ad integrum cure can be achieved, but functional prognosis may be compromised if therapy is given late. In more advanced forms, surgery with drainage and debridement is required.

Chronic Disease↗
PubMed1997

Improved assessment of intravascular Doppler coronary flow velocity profile.

Easy and safe in-vivo flow velocity studies in small coronary arteries have become feasible using a 0.014 'or 0.018' guidewire with an integrated Doppler probe in its tip (FloWire, Cardiometrics). Assessment of the flow velocity profile by the ratio of diastolic to systolic flow velocity (DSVR) is used as a diagnostic parameter. However, DSVR is a coarse quantifier of the flow velocity profile, and is subject to large physiologic variance and depends crucially on the quality of the Doppler signal. The aim of our study was to test parameters derived from statistical time series analysis for monitoring the quality of the instantaneous peak velocity (IPV) signal. Improvement of quantification of changes in quality and shape of flow velocity profiles by these parameters as compared to DSVR was a second goal. We investigated analog-digital converted IPV-signals and video registrations of corresponding greyscale spectra of intracoronary Doppler flow velocity signals. The signals were analyzed by using the autocorrelation function (ACF) in the time domain and a fast Fourier transform (FFT) in the frequency domain (standard time series statistics). The first minimum of autocorrelation function turned out to be very sensitive to signal quality, and Fisher's g of the periodogram was the parameter of choice for shape analysis. In 11 patients with coronary artery disease, pre and post PTCA, the sensitivity of DSVR and signal to noise ratio to changes in shape and quality of the flow velocity signals was compared to that of the new parameters. Nineteen Doppler flow velocity samples of good quality from measurements in nonstenotic vessels and 7 flow velocity tracings with visible artefacts were used to assess the value of these parameters in monitoring signal quality. By comparison with corresponding parameters in use (SNR and DSVR) a significantly improved performance of the new statistical parameters was observed with respect to sensitivity to changes in signal quality and flow profile. In view of these results and because of the short calculation time of these variables they should be used for on-line quality control and analysis of flow velocity profiles.

Adult↗
PubMed1997

[Value of Doppler blood flow velocity measurements in peripheral percutaneous laser-assisted angioplasties].

PURPOSE: The aim of the study was to establish the prognostic value and clinical implications of blood flow velocity measurements by Doppler guide wires during peripheral laser-assisted percutaneous transluminal angioplasty (PTLA). METHODS: 39 patients presenting with symptomatic peripheral arterial obstructive disease underwent angiography and blood flow velocity assessment by Doppler guide wire (0.018") prior to and following PTLA. Both quantitative angiography (QCA) for measurement of luminal diameters and Doppler assessment of maximum peak velocities (MPV) were performed 2 cm proximal, over and 2 cm distal to stenoses. The results were compared with the following clinical endpoints: 1. Short-term clinical improvement by AHA-criteria during first follow-up examination and 2. criteria for patency suggested by Rutherford [12] within 1 year (1-22 months). RESULTS: Angiography demonstrated initial success of PTLA in all patients. Relative diameter stenosis decreased from 70 +/- 0.04% to 17 +/- 0.05%. Mean clinically category improved from 2.7 +/- 0.1 to 1.2 +/- 0.1 following intervention. Mean grade of clinical improvement was 2.8 +/- 0.1. 22/39 patients demonstrated event-free follow-up examinations. Doppler measurements of MPV post PTLA in the proximal reference segment correlated with clinical outcome. MPV > or = 90 cm/s was associated with good primary success, unlimited walking capacity and event-free follow-up. MPV > or = 70 cm/s predicted an improvement of short-term clinical outcome by 2 grades (predictive value 80%). MPV < 70 cm/s was associated with both minor primary clinical improvement (+/- 0, +1) and increased incidence of restenosis during follow-up. CONCLUSION: Following PTLA, MPV adds information to angiographic success. MPV > or = 90 cm/s in a proximal reference segment following PTLA predicts good clinical outcome, whereas MPV < 70 cm/s is associated with minor primary clinical success and increased rates of restenosis.

Adult↗
PubMed1997

A New Sensitive, Whole-Cell Hybridization Technique for Detection of Bacteria Involving a Biotinylated Oligonucleotide Probe Targeting rRNA and Tyramide Signal Amplification.

A tyramide signal amplification system with biotinylated oligonucleotide probes and streptavidin-horseradish peroxidase was used to increase the sensitivity of fluorescent in situ hybridization techniques. When applied to both gram-negative and -positive bacteria immobilized on glass slides, a 7- to 12-fold amplification of the fluorescence signal was observed relative to that of cells hybridized with fluorescently monolabeled probes. A large proportion (62 to 78%) of bacteria could be detected under starvation conditions and in natural samples from the marine environment. This amplification procedure allows new investigations in marine oligotrophic ecosystems and water quality control.

Journal Article↗
PubMed1997

Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.

Molecular studies were performed on 101 cases of confined placental mosaicism (CPM) involving autosomal trisomy. The origin of the trisomic cell line was determined in 54 cases (from 51 pregnancies), 47 of which were also analyzed for the presence of uniparental disomy (UPD) in the disomic cell line. An additional 47 cases were analyzed for parental origin in the disomic cell line only. A somatic (postmeiotic) origin of the trisomy was observed in 22 cases and included the majority of cases with CPM for trisomy 2, 7, 8, 10, and 12. Most cases of CPM involving trisomy 9, 16, and 22 were determined to be meiotic. Fetal maternal UPD was found in 17 of 94 informative CPM cases, involving trisomy 2 (1 case), 7 (1 case), 16 (13 cases), and 22 (2 cases). The placental trisomy was of meiotic origin in all 17 cases associated with fetal UPD (P = .00005). A meiotic origin also correlated with the levels of trisomy in cultured chorionic villi samples (CVS) (P = .0002) and trophoblast (P = .00005). Abnormal pregnancy outcome (usually IUGR) correlated with meiotic origin (P = .0003), the presence of fetal UPD (P = 4 x 10(-7)), and the level of trisomy in trophoblast (P = 3 x 10(-7)) but not with the level of trisomy in CVS or term chorion. The good fit of somatic errors with the expected results could have been observed only if few true meiotic errors were misclassified by these methods as a somatic error. These data indicate that molecular determination of origin is a useful predictor of pregnancy outcome, whereas the level of trisomy observed in cultured CVS is not. In addition, UPD for some chromosomes may affect prenatal, but not postnatal, development, possibly indicating that imprinting effects for these chromosomes are confined to placental tissues.

Cells, Cultured↗
PubMed1996

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases.

Prenatal diagnosis by chorionic villus sampling (CVS) documents placental chromosomal mosaicism in approximately 2% of viable pregnancies at 9-12 weeks of gestation and can involve various chromosomes and placental cell lineages. Confined placental mosaicism (CPM) is the result of postzygotic mitotic errors occurring in either diploid or trisomic zygotes. With trisomic zygote rescue, depending on the parental origin of the chromosome which is lost, uniparental disomy (UPD) or biparental disomy (BPD) may arise [Kalousek et al., Am J Hum Genet 52: 8-16, 1993]. In this paper, we present 14 pregnancies which were diagnosed by CVS as mosaic trisomy 7. All follow-up amniocenteses showed a normal diploid karyotype. Using both classical cytogenetics and interphase analysis, studies of term placentae showed variable levels of trisomy 7. DNA analysis was performed in nine cases to determine whether the diploid fetus had BPD 7 or UPD 7. Fetal UPD 7 was present only in one case; in eight other cases biparental inheritance was demonstrated. DNA analysis to establish the origin of trisomy 7 in the placenta was fully informative in six cases. One trisomy resulted from a meiotic error and was associated with fetal UPD 7, while the rest were somatic in origin. It is difficult to compare the effect of CPM for trisomy 7 to other trisomies confined to the placenta, as for most chromosomes there are few available cases. It appears that intrauterine fetal growth is not greatly affected by the presence of a trisomy 7 cell line in the placenta. This finding is in contrast to the serious effect of high levels of trisomy 16 within the placenta on fetal intrauterine growth in a series of well-documented cases of CPM 16 [Kalousek et al. 1993].

Chorionic Villi Sampling↗
PubMed1996

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Cross-species comparison is an effective tool used to identify genes and study their function in both normal and pathological conditions. We have applied the power of Drosophila genetics to the vast resource of human cDNAs represented in the expressed sequence tag (EST) database (dbEST) to identify novel human genes of high biological interest. Sixty-six human cDNAs showing significant homology to genes causing Drosophila mutant phenotypes were identified by screening dbEST using the "text string' option, and their map position was determined using both fluorescence in situ hybridization (FISH) and radiation hybrid mapping. Comparison between these genes and their putative partners in Drosophila may provide important insights into their function in mammals. Furthermore, integration of these genes into the transcription map of the human genome contributes to the positional candidate approach for disease gene identification.

Amino Acid Sequence↗
PubMed1996

Influence of sampling time and diet on amino acid composition of protozoal and bacterial fractions from bovine ruminal contents.

Four ruminally cannulated cows were used to compare amino acid (AA) composition of protozoal and bacterial fractions as affected by sampling time and diet. Cows were given once a day restricted feed (80% of ad libitum intake) of 7 kg DM with two successive diets. Diet HB was 65% Cocksfoot hay and 35% pelleted ground barley, and Diet H was 100% Cocksfoot hay. Samples of whole ruminal contents were taken 2, 5, 8, 11, and 23 h after feeding for Diet HB and 2 h after feeding for Diet H to isolate the liquid-associated protozoa and bacteria (LAP, LAB) and particle-associated bacteria (PAB). At each sampling time, the AA compositions of the different microbial populations were determined. The AA profiles of the LAP were different from those of the bacteria for 13 AA out of 17 studied. Differences between AA compositions of LAB and PAB were also observed for 10 AA out of 17 studied. Irrespective of the microbial population, AA composition did not vary with sampling time after feeding diet HB (P > .05; except for arginine, glutamate, and glycine). The AA contents of none of the three microbial populations were affected (P > .05) by the diet except for leucine and glutamate (P < .01). The differences in AA profiles between LAP and bacteria and between LAB and PAB confirm the importance of the representativeness of the microbial reference sample for correctly estimating microbial AA flow into the small intestine.

Amino Acids↗
PubMed1996

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

Uniparental disomy (UPD)-the inheritance of two homologous chromosomes from a single parent-may be unmasked in humans by the unexpected appearance of developmental abnormalities, genetic disorders resulting from genomic imprinting, or recessive traits. Here we report a female patient with familial chylomicronemia resulting from complete lipoprotein-lipase (LPL) deficiency due to homozygosity for a frameshift mutation in exon 2 of the LPL gene. She was the normal term product of an unremarkable pregnancy and had shown normal development until her current age of 5.5 years. The father (age 33 years) and the mother (age 24 years) were unrelated and healthy, with no family history of stillbirths or malformations. The father was a heterozygous carrier of the mutation, whereas no mutation in the LPL gene was detected in the mother. Southern blotting did not reveal any LPL gene rearrangement in the proband or her parents. The proband was homozygous for 17 informative markers spanning both arms of chromosome 8 and specifically for the haplotype containing the paternally derived LPL gene. This shows that homozygosity for the defective mutation in the LPL gene resulted from a complete paternal isodisomy for chromosome 8. This is the first report of UPD for chromosome 8 unmasked by LPL deficiency and suggests that normal development can occur with two paternally derived copies of human chromosome 8.

Adult↗
PubMed1996

[Central nervous system infections in patients with malignant diseases].

Infections of the nervous system remain a significant source of morbidity and mortality in patients with cancer. This paper reviews the main pathogens and emphasizes some of the principles of diagnosis and management of nervous system infections in cancer patients. Due to immunosuppression, diagnosis is more difficult in this group, secondary to the multitude of potential pathogens, and often by their atypical presentations. Fever or headache are often the only symptoms. Clinical history and general examination should guide appropriate studies such as neuroimaging. CSF analysis, cultures, and brain biopsy. Diagnostic evaluation should be pursued rapidly and aggressively since specific treatments can often reduce morbidity and mortality. Bacterial infections are generally due to break-down of the natural barriers and neutropenia. In neutropenia, Pseudomonas aeruginosa, and Enterobacteriae are the most frequent etiology. If all causes of immunodepression are included, Listeria monocytogenes meningitis is the main bacterial infection encountered. Fungal infections have emerged as a major cause of death among cancer patients. The prognosis of cryptococcosis and histoplasmosis meningitis are markedly improved with new antifungal therapy. Aspergillosis and Mucormycosis, which may cause cerebral abcesses and secondary vascular complications, are almost always fatal. The incidence of meningo-cerebral Candidiasis is often underestimated. Similar to Histoplasmosis, it is frequently disseminated. Viral infections are mainly seen in patients with T-lymphocyte defects. Herpes-simplex virus and Varicella-Zoster virus encephalitis should quicky lead to intravenous treatment with Acyclovir. As in AIDS patients, cerebral toxoplasmosis is the most frequent parasitic infection and appropriate therapy greatly reduces morbidity. It should be emphasized that multitude pathogens are often seen in cancer patients. Despite development of new therapeutic agents, central nervous system infections should still be considered life-threatening. Therefore, antibacterial, antifungal, and antiviral prophylaxis should be the rule for all cancer patients.

Central Nervous System Diseases↗
PubMed1995

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.

X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. A virtually identical phenotype is observed in the warfarin embryopathy, which is due to the teratogenic effects of coumarin derivatives during pregnancy. We have cloned the genomic region within Xp22.3 where the CDPX gene has been assigned and isolated three adjacent genes showing highly significant homology to the sulfatase gene family. Point mutations in one of these genes were identified in five patients with CDPX. Expression of this gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. A deficiency of a heat-labile arylsulfatase activity was demonstrated in patients with deletions spanning the CDPX region. These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme.

Abnormalities, Drug-Induced↗
PubMed1994

Molecular analysis of wild-type and mutant alleles at the Opaque-2 regulatory locus of maize reveals different mutations and types of O2 products.

The expression of the various members of the zein multigene family in maize endosperm is controlled by different regulatory loci. One of these loci, Opaque-2, coding for a bZIP transcriptional factor, controls the expression of a subset of zein genes. Analysis of genomic DNA from plants carrying wild-type (O2) or mutant o2 alleles shows specific DNA restriction patterns that correlate with transcript types and their various gene products. Northern and western analyses show the presence in different wild types of a 1.7 kb transcript coding for different sizes of normal O2 proteins that migrate as doublets in the 68-72 kDa range. Among the various o2 mutants analysed we showed the occurrence of various null-transcript alleles, the presence of alleles with a normal size transcript which, however, produce a different-sized o2 protein, and a mutant producing both a normal size transcript and a longer transcript, but generating only a single o2 product migrating around 40 kDa. Analysis of other mutations (o7, fl2) known to affect zein polypeptide synthesis shows no interference of these mutations in the expression of the O2 gene products. The overall results indicate the occurrence of micro heterogeneity in the O2 wild-type genes and a broad spectrum of o2 mutations, both producing different sizes of O2 or o2 proteins. A nomenclature of the O2 and o2 genes based on the RFLP, transcripts and products of the various alleles is presented.

Alleles↗