Biomedical subjects
B Le Marec
Publications and source records attributed to B Le Marec.
[Value and limits of autopsy in perinatal medicine. A plea for complete perimortem evaluation].
The dead newborns and stillborns of a French department (Ille et Vilaine, préfecture: Rennes) were studied during a 3 year period by a multidisciplinary physician group. There were 128 newborns and 207 stillborns among whom autopsies were carried out in 90 (72%) and 107 (52%) respectively. The contribution of the autopsies to diagnosis was highly different in the two groups: 92% in newborns and 34% in the stillborns. In the stillborns, autopsy was only contributive when congenital malformations were observed, whereas it was not when the cause of the death was obstetrical. We conclude that an autopsy must be performed in all dead newborns and stillborns; however for stillborns complementary investigations must be added, particularly on the placenta.
[Congenital intrahepatic arterio-portal fistula: diagnostic and therapeutic aspects].
The authors report the case of a 4 month old child presenting with a congenital arteriovenous fistula of the left hepatic lobe, revealed by a melaena. Doppler ultrasonography and angiography showed a voluminous vascular malformation fed by a left hepatic artery and fistulized in the portal vein. The therapeutical approach was first palliative, by ligature of the left hepatic artery which proved unsuccessful and resulted in re-permeation of the malformation through a right hepatic artery. Two embolization procedures were then attempted, without success. A left hepatectomy was then performed to remove the malformation. The main event of outcome was the secondary occurrence of a portal cavernoma, with persistent splenic segmentary portal hypertension, and oesophageal varicosity. This case report is the occasion for a literature review on congenital arteriovenous fistulae in the portal region, and for a discussion on therapeutical modalities.
CSF ascorbic acid and lactate levels after neonatal asphyxia: preliminary results.
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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.
A new syndrome with ptosis, coloboma and mental retardation.
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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.
[Jackson-Lawler syndrome: a study in 2 families].
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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.
Dizygotic twinning in mothers of spina bifida.
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MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: new syndrome or familial facial-limb disruption sequence?
We report on two sibs with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome who have a first cousin with Möbius anomaly. This may represent a new MCA/MR syndrome.
[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.
[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.
[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)
["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.
[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.
[A family with x-linked hydrocephaly followed for 20 years: echographic prenatal diagnosis; elective abortion].
In a Bickers-Adams family followed up for almost 20 years, authors report pregnancies of two propositus' sisters: echographic diagnosis of (normal) girls, of normal or affected boys and selective abortion in a case of dizygotic twin pregnancy with a normal girl and an affected boy.
[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.