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B Le Marec

Publications and source records attributed to B Le Marec.

At least 19 recordsLinked to original sources
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↗
PubMed1989

[Argininosuccinic aciduria. A new case revealed by psychiatric disorders].

The case of a 4 years old boy, hospitalized for an unexplained coma, is reported. He is the first child of a non-consanguin couple. The psychomotor development of this child was considered as normal up to the age of 18 months; then, a delay in language development, behaviour disorders with an important instability interrupted by episodes of somnolence, were observed. This child was treated for psychotic disorders. At the age of 3 and half, he had two episodes of seizures associated with fever. He was hospitalized for a 24 hours coma (4 years old). An hepatomegaly and a dry, brittle hair were then observed. Hyperammonemia was made obvious by a protein tolerance test. The diagnosis of argininosuccinate lyase (ASAL) deficiency was based on the increased levels of ASA in plasma and urine. The deficiency was proved by a fibroblast culture. With protein restriction, hepatomegaly disappeared, hair became normal, the behaviour disorders and the delay in language development was improved. However, some school difficulties persist. This case shows that an hereditary metabolic syndrome can be revealed by psychotic like symptoms in childhood.

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

[Neonatal mortality at the Ille-et-Vilaine department. Results in 1987].

All 56 neonatal deaths that occurred during 1987 in Ille-et-Vilaine department (France) were systematically analysed, and the history of pregnancy, delivery, neonatal resuscitation, circumstances under which death occurred in neonatal care unit as well as autopsy findings were studied. Each case was then discussed by a multidisciplinary staff and consensus was obtained regarding diagnosis and cause of death. There were 2 separate categories: 26 deaths (46%) were due to related to malformation, or to metabolic dysfunction; 30 deaths were a result of other causes (54%): 9 low birth weight, 5 respiratory disorders, 5 neurologic disorders, 6 infectious diseases, 2 hemorrhagic shock and 3 were of unknown etiology. Information on causes of neonatal death in a specific region may aid in determining public health priorities for that region; if similar studies were carried out in each department, and results compared, this could aid in setting the guidelines for more efficient health treatments and lead to national choices about neonatal public health.

France↗
PubMed1989

[Stillbirths in Ile-et-Vilaine].

The study of stillbirths is a way to approach foetal medicine and a good opportunity to foster a closer relationship between obstetricians, pediatricians and public health physicians, which will lead to preventive measures known to be effective in decreasing mortality rates. Four hundred and ninety pregnancies which ended in stillbirths were investigated: 61 before 27 weeks of amenorrhea, 228 between 28th and 36th weeks, 194 after 37 weeks. The different causes were identified: intrauterine growth retardation and pathological pregnancies remain the most important causes but the authors attract attention to a category of foetal deaths occurring at the end of the pregnancy without any evident cause and for which "postmaturity" was likely. The data attract attention on the necessity to carry out research on stillbirths through a closer collaboration between obstetricians and pediatricians and suggest that appropriate preventive measures may lead to a significant reduction of the 25% of avoidable deaths.

Female↗
PubMed1989

[Congenital diaphragmatic hernia with a late disclosure].

Two further cases of congenital diaphragmatic hernia with delayed presentation are reported: a 6-month-old male presented a posterolateral diaphragmatic hernia with small bowel in left hemithorax masquerading as pleural effusion; an 11-year-old boy with Down's syndrome presented a retrocostoxyphoid hernia revealed by vague faintness. The authors emphasize the deceptive clinical aspect, the different means for diagnosis, the risk of wrong diagnosis and pleural drain, the usual good outcome of these late-onset diaphragmatic herniation.

Child↗