Search PubMed⌕ Search

Biomedical subjects

J M Robert

Publications and source records attributed to J M Robert.

At least 55 records · Page 3Linked to original sources
PubMed1989

[Renal agenesis and the Fraser syndrome: 4 observations].

The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.

Abnormalities, Multiple↗
PubMed1989

[The geneticist and the psychiatrist].

The author describes three different opportunities requiring a desirable collaboration between the geneticist and the psychiatrist: 1. More detailed analysis of the psychologic fallout inside a family with an handicapped person. 2. How a geneticist may contribute to a medical progress inside a psychiatric institution. 3. The possible convergence of their efforts in some fields of the neuropsychiatric research.

Genetic Counseling↗
PubMed1988

Regularity and latency of units in ventral cochlear nucleus: implications for unit classification and generation of response properties.

1. The responses of neurons in the ventral cochlear nucleus (VCN) of decerebrate cats are described with regard to their regularity of discharge and latency. Regularity is measured by estimating the mean and standard deviation of interspike intervals as a function of time during responses to short tone bursts (25 ms). This method extends the usual interspike-interval analysis based on interval histograms by allowing the study of temporal changes in regularity during transient responses. The coefficient of variation (CV), equal to the ratio of standard deviation to mean interspike interval, is used as a measure of irregularity. Latency is measured as the mean and standard deviation of the latency of the first spike in response to short tone bursts, with 1.6-ms rise times. 2. The regularity and latency properties of the usual PST histogram response types are shown. Five major PST response type classes are used: chopper, primary-like, onset, onset-C, and unusual. The presence of a prepotential in a unit's action potentials is also noted; a prepotential implies that the unit is recorded from a bushy cell. 3. Units with chopper PST histograms give the most regular discharge. Three varieties of choppers are found. Chop-S units (regular choppers) have CVs less than 0.35 that are approximately constant during the response; chop-S units show no adaptation of instantaneous rate, as measured by the inverse of the mean interspike interval. Chop-T units have CVs greater than 0.35, show an increase in irregularity during the response and show substantial rate adaptation. Chop-U units have CVs greater than 0.35, show a decrease in irregularity during the response, and show a variety of rate adaptation behaviors, including negative adaptation (an increase in rate during a short-tone response). Irregular choppers (chop-T and chop-U units) rarely have CVs greater than 0.5. Choppers have the longest latencies of VCN units; all three groups have mean latencies at least 1 ms longer than the shortest auditory nerve (AN) fiber mean latencies. 4. Chopper units are recorded from stellate cells in VCN (35, 42). Our results for chopper units suggest a model for stellate cells in which a regularly firing action potential generator is driven by the summation of the AN inputs to the cell, where the summation is low-pass filtered by the membrane capacitance of the cell.(ABSTRACT TRUNCATED AT 400 WORDS)

Acoustic Stimulation↗
PubMed1988

[Alpha-fetoprotein and trisomy 21].

In 31 affected pregnancies with Down syndrome, the median maternal serum alpha-fetoprotein value was lower than normal, 0.76 MoM, and median amniotic fluid value was quite normal, 0.98 MoM. Selecting an arbitrary cutoff-point of 0.5 MoM, 4.1 percent of normal gestations show values less than 0.5 MoM. Authors discuss problems about screening for fetal Down's syndrome by measuring maternal serum AFP levels.

Amniotic Fluid↗
PubMed1988

[The 48,XXXX syndrome: study of psychomotor development from birth to 11 years of age and review of the literature].

A child with four X chromosomes is described. This case and the literature review allow to underline the mental retardation and some other "major" but inconstant signs that are extremely helpful for the early clinical diagnosis. They are hypertelorism, epicanthal fold and genital anomalies. The mental evolution is assessed on an eleven year period. The bad results concern particularly the child's use of language and the complicated works. They become worse with time. The additional X chromosomes Mary Lyon inactivation, perhaps incomplete, is discussed because its determinism. Enzymatic measuring out is our approach to this problem.

Child↗
PubMed1988

[The Recklinghausen model: innumerable phenotypes and scarce genotypes].

Since several decades, clinical reports about neurofibromatosis are overwhelming general practitioners, neurologists and other specialists. Since some years cellular biology (specially experimental studies on the neural crest) and molecular genetics light up somewhat the contrast between innumerable phenotypes and the rare punctual mutations which are at the source of the disease. The author reviews the different theories which are attempting to explain the process of malignant transformation in these kinds of diseases (role of eventual oncogenes and recent experiment types of Hinrichs in transgenic mice).

Cell Transformation, Neoplastic↗
PubMed1988

[Registries of malformations in the Rhône-Alps/Auvergne region. Value and limits of monitoring teratogenesis. 11 years' experience (1976-1986)].

The authors describe a population-based birth defects registry, started in 1976. The system surveys about 85,000 births per year, occurring in 140 maternity units and representing more than ten per cent of all the births in France. Monitoring first covered the Rhône-Alpes region, then was extended to the Auvergne region in 1983 and to the Jura district in 1985. The method of investigation was "multi-source", because any doctor in the zone covered was in a position to notify a malformation to the registry. (497 obstetricians, pediatricians, pediatric surgeons, fetopathologists, geneticists and cytogeneticists). Malformations were coded with a specific terminal elaborated in the registry (1,600 items). The mothers' exposures to drugs during the first trimester of pregnancy were coded by trade names. The registry is a full member of the International Clearinghouse for Birth Defects Monitoring Systems, an international organisation now including in this group 25 regional or national birth defects registries and covering more than 3 million births per year. The 1986 results of monitoring birth defects in the described registry are given as examples. Within the eleven years (1976-86), 15,000 cases of malformations were registered, and two clusters have been detected and followed-up: femoral aplasia/hypoplasia in 1980-81 and oesophageal atresia in 1984. No cause was found for these "epidemics". The strong association between in utero exposure to valproic acid with spina bifida is the main result of the activities of the registry since its creation.

Abnormalities, Multiple↗
PubMed1988

[Atresia of the esophagus. Study of a cluster observed in 1984 in the Rhône-Alpes region].

The Rhône-Alpes Auvergne Register allows the monitoring of malformations, in 2 French regions. This monitoring led to the discovery of a cluster of cases of esophageal atresia of the isolated type during the year 1984. Analysis of this cluster showed that it was mainly due to a concentration of cases (7 observed vs 1.78 expected) born in the Ain department, 4 of them being born during the first trimester. Analysis of the cluster was followed by an individual questioning of families. It concerned essentially the environmental conditions of the onset of pregnancy and did not allow to set the hypothesis of a possible risk factor. The authors conclude that either the cluster should be attributed to chance, or the used questionnaire, even if directed towards all directions and seeming quite complete, was not sufficient to allow bringing out an hypothesis.

Abnormalities, Multiple↗
PubMed1987

[Renal hypoplasia, polydactyly, cardiopathy: a new syndrome?].

The occurrence of a polymalformation pattern associated with a polydactyly indicates a mendelian inheritance. We report a case with renal hypoplasia, polydactyly, congenital heart defects. A large literature review makes the differential diagnosis and brings this case nearer to an anterior observation of the literature. We discuss an eventual new syndrome with autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1987

[Female pseudohermaphroditism associated with cloacal dysgenesis].

Pregnancy terminated for a severe oligoamnios and renal dysplasia. Chromosomal, gonadal, internal genitalia sexes are female. There is a cloacal dysgenesis, with caudal appendice and hypoplastic external genitalia of male type. Single umbilical artery and congenital cardiac malformation (complete atrio ventricular communication) are associated. Embryopathologic explanation for this female pseudo-hermaphroditism is proposed.

Abnormalities, Multiple↗
PubMed1987

[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].

Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.

Creatine Kinase↗
PubMed1986

Evaluation of drug therapy and teratogenic risk in a Rhône-Alpes district population of pregnant epileptic women.

The authors describe a sample of 148 pregnancies in identified epileptic women from 2 distinct sources: questionnaires sent to a group of women, 15-45 years old, having had an EEG between 1976 and 1983, and a computerized registry involving all pregnancies occurring in 3 maternity wards in Lyon between 1979 and 1983. The analysis of drug therapy during early pregnancy showed that the most common regimen was monotherapy. Either in mono- or in polytherapies, phenobarbitone was the drug used most often, the second being valproic acid (67 and 25% of monotherapies, respectively). The epileptic mothers were younger than the controls, and had had fewer pregnancies. Sex and birthweight distribution did not differ from those of the controls. Twenty-six malformed infants (17.7%) were registered. Among them, 18 (70%) had minor defects only. No major malformation was observed in the 'no drug' group, 6.7 and 7.7% of major malformations were observed in the monotherapy and polytherapy groups, respectively.

Abnormalities, Drug-Induced↗
PubMed1985

[Evaluation of 100 autopsies performed in the maternity service of the Hôtel-Dieu in Lyon during an 18 month period].

100 Necropsies have been performed from January 1983 to June 1984, on 53 abortus and stillborn and 47 therapeutic terminations of pregnancy. All fetuses came from the same obstetric unit. Half spontaneous fetal deaths remained of unknown aetiology; in 18 cases (34%) placental, maternal or pregnancy pathology existed; fetal abnormalities were discovered in 10 (18%). As for therapeutic interruptions of pregnancy (the indications of which are detailed) the importance of ultrasonography emphasized since this technique allowed 25 of the 47 prenatal diagnosis. The importance of necropsy to help precise diagnosis and subsequent counselling is also recalled.

Abortion, Therapeutic↗
PubMed1985

[In search of morphogenes].

May we talk about morphogenes as it is actually done about oncogenes? The author reviews some recent experimental discoveries which launch embryology on a new way: rethinking mitosis, studying cell movement and adhesion, neuronal migration, the role of gap-junctions, cell-death programmation. Embryology and genetics are today converging on identic aims, particularly in the fields of the homeotic genes and of transgenic animals.

Animals↗