Search PubMed⌕ Search

Biomedical subjects

B Le Marec

Publications and source records attributed to B Le Marec.

At least 19 recordsLinked to original sources
PubMed1995

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

Two groups of infertile men with obstructive azoospermia were screened for cystic fibrosis (CF) gene mutations (delta F508, exons 3, 4, 7, 10, 11, 14a, 17b, 19, 20, 21). The first group was composed of 26 patients with congenital agenesis of vas deferens (CAVD). The second group was composed of 12 patients with obstructive azoospermia associated with chronic suppurating respiratory disease (Young's syndrome). Of the group with CAVD, 77% of patients showed at least one mutation in the CF transmembrane conductance regulator (CFTR) gene. The delta F508 mutation occurred most frequently (54%), and the second most frequent mutation to occur was R117H (27%). Six patients were double heterozygotes. In Young's syndrome, no CF mutations were detected. CAVD can be considered as an incomplete clinical form of CF. However, the differences observed in CF mutations between CF and CAVD suggest that they are different disorders resulting from mutations in the same gene. Young's syndrome is a very different clinical entity.

Adult↗
PubMed1994

Remarks about the prognosis in case of antenatal diagnosis of gastroschisis.

We report our experience of 15 cases of gastroschisis which occurred between 1981 and 1993. All but one were diagnosed antenatally by ultrasound between 16 and 32 weeks of pregnancy. We made a termination of the pregnancy in 3 cases, for multiple malformations in 2 cases and one case of very early premature rupture of the membranes (PROM). When checked (11 cases), the karyotype was normal. We made a cesarean section in 11 cases: the indication was a complication for 6 (fetal distress, PROM, polyhydramnios, large dilatation of the gut). We noted growth retardation in 7 newborns and prematurity in 5/12 (mean gestational age of 36.8 weeks). The preoperative study of the gut noted 5 cases with intestinal damage and one case of complete necrosis of the gut. The global prognosis is not as good as usual, with a perinatal mortality of 41.6% (5/12). We discuss this latter point and examine the literature.

Abdominal Muscles↗
PubMed1994

[Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case].

Oculo-dento-digital syndrome (SODD) as defined by Meyer-Schwickerath in 1957 is a rare entity (84 cases) which belongs to ectodermal dysplasias. It consists of: the characteristic features (long face, pinched nose); syndactyly; ocular, dental and bone abnormalities. This entity is usually transmitted on the autosomal dominant mode. We report two cases (a mother and daughter) with polymalformations which we classed as SODD. Furthermore, agenesis of lacrimal duct and genitourinary abnormalities were noted. The mother had a very particular complex hair shaft dysplasia (incomplete pili torti, "tiger tail" aspect, fractures) with alopecia since she was fifteen years old. The daughter's hair was normal at birth. In SODD, fine and sparse hair is often observed (44 p. 100). Only one patient had hair shaft investigation under polarized light: pili annulati and monilethrix were described but not found in our cases. These two reports incite to the systematic hair shaft study in SODD as other ectodermal dysplasia syndromes.

Abnormalities, Multiple↗
PubMed1994

A case of Larsen syndrome with severe cervical malformations.

The authors report Larsen Syndrome in a male newborn with severe cervical spine malformations: segmentation abnormalities of the cervical spine and atlanto-axial dislocation. The severity of the cervical malformations occurring more often in the autosomal recessive form is emphasized.

Abnormalities, Multiple↗
PubMed1992

Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary French-Canadian families living in eastern Quebec, who carry the M1V mutation causing PKU. The M1V mutation, heretofore considered to be associated exclusively with French-Canadians, was found on 4 of 152 independent French chromosomes. The French and Quebec M1V mutations all occurred on RFLP haplotype 2. The contemporary mutant French chromosomes clustered in southern Brittany (Finistère Sud). Genealogical reconstructions of the Quebec families identified 53 shared ancestors and a center of diffusion in the Perche region in 17th century France. The two clusters in France, one historical and the other contemporary, are not incompatible, if one assumes the possibilities that settlers returned from Nouvelle France or moved from Perche to southern Brittany. The M1V mutation is serving as a useful marker for historical demography.

Base Sequence↗
PubMed1991

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

The oto-palato-digital syndrome (OPD) is a rare X-linked disease with diagnostic skeletal features, conduction deafness, cleft palate and mild mental retardation. Differences in clinical presentation between families have led investigators to classify OPD into two subtypes: type I and type II. A linkage study performed in one family segregating for OPD I has recently suggested linkage to three marker loci: DXS15, DXS52 at Xq28, and DXS86 at Xq26. We have investigated an additional OPD I family for linkage by using distal chromosome Xq DNA probes. The linkage data and the analysis of recombination events that have occurred in this family excluded, definitively, the Xq26 region for OPD I, and provide further support for mapping the mutant gene close to the cluster of tightly linked markers DXS15, DXS52 and DXS305 at Xq28.

Abnormalities, Multiple↗
PubMed1990

Triphalangeal thumb and split foot in the same family.

The authors report a family with triphalangeal thumb with nail hypoplasia: one of them has also split feet. They believe that the existence of such families must make very circumspect with regard to genetic counseling for a minor problem such as triphalangeal thumb.

Chromosome Aberrations↗
PubMed1989

[Home care of tracheotomized infants].

Home care of tracheostomized infants was studied through the experience of 4 families. Medical, social, financial, technical and psychological problems were reviewed. Common main outlines loomed out: after an initial defensive response against tracheostomy, parents were involved in the care of the child. They learned to suction the child and change the tube. Home comeback of the baby produced most anxiety to the parents for a few nights then they coped with it. The mothers had to leave their outside work so the family income decreased in all cases. The family's activities were most altered too. But babies' psychomotor development was excellent, language was delayed but finally normal in three cases, school attendance was obtained and all families considered lucky with the overall development. The knowledge of this common background permits to plan the parental education and the intervention of social workers, speech therapist, kinesiotherapist and psychologist.

Costs and Cost Analysis↗
PubMed1989

[Fatal legionellosis in an infant treated with ACTH].

A new case of fatal systemic legionnaires' disease is reported in an infant. This 8 month-old boy was given a protracted treatment with adrenocorticotropic hormones for infantile spasms. Legionella pneumophila type I was found in tracheal secretions and there was multivisceral involvement at autopsy. The mode of contamination and the severity of the disease are discussed in the light of the immunosuppressive properties of the glucocorticoids administered over a period of 4 weeks.

Cosyntropin↗
PubMed1989

[Indications for therapeutic interruption of pregnancy in Ille-et-Villaine from 1982 to 1986. Apropos of 222 cases].

The authors have made the census of all the Medical Terminations of Pregnancy (MTP) which have been carried out in the Department of Ille et Vilaine from 1982 to 1986, i.e. 222 cases, in order to precise the different indications and the diagnosis tools which were used. 132 MTP concern women who live in the Department of Ille et Vilaine. By referring this figure to the total number of pregnancies in this area, one can see that the average incidence is of 1.9%; MTP account for 1% of the total number of Terminations of Pregnancies. Foetal indications are more frequent (188 cases; i.e. 84.7%) than maternal ones (34 cases, 15.3%); these figures remained stable over the 5-year period of study. Chromosomal aberrations and closing defects of the neural tubule are the main causes of MTP (22.9% of foetal indications). Among the 43 chromosomal aberrations, trisomies are the most frequent ones (34.9%) because all women aged 38 or more are proposed a detection. The diagnosis of trisomy was made in 24 cases after tests were programmed either because of the age of the mother or because of family antecedents (amniocentesis: 22 times, punction of foetal blood: once, biopsy of chorion villosities: once), in 6 cases after tests were carried out on the basis of suspect clinical signs amniocentesis: once, punction of foetal blood: 5 times), and in 13 cases after the echography had revealed a major syndrome. Closing defects of the central nervous system mainly concern anencephaly (17.6% of foetal indications) since the echography enables an easy diagnosis. All anencephaly have actually been detected during the reference period of pregnancy.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1989

["Genetic emergencies" in a pediatric intensive care service].

Case histories from the pediatric reanimation department (intubated children of 0 to 15) and neonatology of Renne's hospital are reviewed for the years 1987 and 1988. Among 1.555 admissions (486 in reanimation, 1069 in neonatology), 63, that is 4%, concerned the clinical geneticist. The distribution may be done in 32 malformations and genetic syndromes, 8 chromosomal defects, 6 neuro-muscular diseases, 6 metabolic diseases, 3 cystic fibrosis, 3 spina bifida, 5 varied diseases. The advice of the genetic counsellor was requested 8 times for an urgent case, and to arrive at a decision about a reanimation, 7 times before the death of a patient for the management of diagnostic techniques: biopsy, blood or urines sent to a specialized center.

Emergency Service, Hospital↗
PubMed1989

[Comparative study of the administration of amikacin by intramuscular and intravenous routes in neonatal resuscitation].

A study was carried out to determine amikacin blood levels in 44 neonates who were admitted to a Pediatric Intensive Care Unit. Amikacin was administered by intravenous or intramuscular route. The levels obtained with both methods were similar. The results of our study indicate that amikacin levels should be monitored in neonates to avoid toxic concentrations of this drug. On the basis of this study a new neonatal dosage schedule is proposed.

Amikacin↗