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Biomedical subjects

J M Robert

Publications and source records attributed to J M Robert.

At least 91 records · Page 5Linked to original sources
PubMed1981

[Problems posed by prenatal diagnosis of abdominal wall malformations].

The authors present 6 observations of in utero detected abdominal wall defect : 2 laparoschisis and 4 omphaloceles. In three cases the diagnosis have been done prior week 20, by systematic AFP assay for amniocentesis performed for cytogenetic or metabolic reasons; the pregnancy was terminated. In three other cases, the pregnancy was complicated by hydramnios after week 30; amniocentesis for AFP and echography were performed to detect fetal malformations after associated with hydramnios. The detected abdominal wall anomaly was not alone: two fetus had an abnormal caryotype (trisomy 18), three other presented a polymalformative syndrome, a Beckwith-Wiedemann syndrome was discussed for the last child. The in utero diagnosis of omphalocele or laparoschisis implicates difficulties for genetic counselling, particularly if the diagnosis is done prior week 20. These anomalies can be treated with surgical management, but frequency of associated malformations must be underlined. it is important for genetic counselling to know the family history, the amniotic fluid cells caryotype, and an ultrasound scanning performed to reveal any other malformations.

Abdominal Muscles↗
PubMed1981

[Gonadic dysgenesis and dicentric chromosome Y. A report of two cases, one of which had a gonadoblastoma (author's transl)].

The authors report two new cases of primary amenorrhoea due to the presence of a dicentric Y with a chromosome formula of 45,X/46,X,dic(Y). These two patients show how variable the clinical manifestations of these gonosome anomalies can be, since one had a Turner's syndrome and the other is a woman who looks completely normal but only has primary amenorrhoea. A review of the literature has brought to light only 45 cases similar to ours and shows the different clinical aspects of these patients who are 45,X/46,Xdic(Y). Finding that one of our patients had a gonadoblastoma has confirmed the need to carry out bilateral castration when there is a dysgenetic gonad with a Y chromosome, in order to treat or prevent a dysgenetic tumour from arising.

Adult↗
PubMed1981

[Acetylcholinesterase: an additional test for diagnosis of fetal malformations].

From an observation of in utero suspected myelomeningocele, the authors underline interest of pattern of cholinesterases using acrylamide gel electrophoresis. The AChE isoenzyme band appears in some fetal malformations, particularly NTD. This biochemical test is considered as complementary of the AF alpha-fetoprotein assay.

Acetylcholinesterase↗
PubMed1981

A local outbreak of femoral hypoplasia or aplasia and femoral fibula-ulnar-complex.

The authors describe an outbreak of femoral hypoplasia or aplasia, isolated or associated with fibular or/and ulnar anomalies (Proximal femoral focal deficiency or FFU Complex). The epidemic seems to be limited in place (Rhone-Alpes region in France), and in time (starting late 1979 or early 1980 and apparently maintained during 1981 with an excess of winter-born patients). All the cases are sporadic and clinically strictly unilateral. An hereditary factor does not seem to play a role. No iatrogenic agent, no radiation exposure, no infectious diseases can be incriminated. The hypothesis of a responsible chemical teratogenic product suddenly introduced in the Rhone-Alpes region in 1979 is arising. The difficult inquiry is going on with finer analysis. This aggregation of unusual malformations is a typical example of what can be found at monitoring of birth defects.

Female↗
PubMed1981

[Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.

Abnormalities, Multiple↗
PubMed1981

[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.

Clinical Enzyme Tests↗
PubMed1981

[Early clinical and histopathological manifestations in 14 boys showing elevated serum creatine-phosphokinase levels in their first year].

The detection of Duchenne muscular dystrophy in the neonate by a determination of the serous activity of CPK allowed the authors to study the muscular, clinical and histopathological features among 14 boys born from 1976 to 1979, showing a raise in the enzymatic activity, confirmed during the first 6 months. 11 boys showed a Duchenne muscular dystrophy, and 3 likely a Becker muscular dystrophy. The authors point out the interest of early findings of hyaline degeneration of the fibers and indicate the variations, from one case to another, of the histopathological evolution in the pre-symptomatic stage. A well examined muscular biopsy is usually conclusive without using an electron microscope, from the age of one year, if serous activity of CPK reaches twenty times the normal rate. If not, waiting for the age of 2 would be advisable, since the initial lesions of the Becker D.M. are not yet clearly defined. When no systematic detection and no familial context, a dosage of the CPK serous activity should be made in the last during the third year, on every boy revealing an unexplained motor retardation. In that purpose, a definition and an application of a motor development score are proposed.

Biopsy↗
PubMed1980

Duchenne muscular dystrophy: systematic neonatal screening and earlier detection of carriers.

Systematic neonatal screening programme for DMD has been set up since June 1975. Constant and specific SCK increase in DMD newborn can be found on whole dried blood between the 5th and 8th day after birth. The amount of false positives is small : 1,6%. At the first control, DMD diagnosis is very probable and is made certain by EMG and muscle microscopic observations. For a period of 3 years and 6 months, we have achieved 138 579 screening tests, and 12 DMD were found, among 71 091 boys (1/5 929 male births). Genealogical data from 11 families out of the 12 lead to identify 93 women relatives as possible carriers; 23 of them are menstruating women who benefit by recognition and receive genetic information several years before the DMD clinical diagnosis in the first family's proband could have been done. Systematic neonatal screening programme for DMD seems to be a means to reduce the incidence of DMD to the theoretical mutation cases.

Female↗
PubMed1979

[Systematic neonatal screening for Duchenne muscular dystrophy].

More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a specific increase of the activity of Creatine-Kinase (CK) in the blood of newborn children with myopathy. Blood may be spotted on paper and posted to a central laboratory. Furthermore this program can be integrated into the systematic screening of phenylketonurie. The specificity and accuracy of the bioluminescent reaction used for the evaluation of CK suggest that this screening reaction is reliable. A systematic neonatal screening program for DMD such as ours in the Rhône-Alpes area (France) will lead to frequent recourse to prenatal diagnosis now possible through sex fetal determination and which would be possible through in utero blood sampling.

Creatine Kinase↗
PubMed1979

[Cheated life].

Explore the source record for details and available documents.

Bacteria↗
PubMed1979

[The status of chromosome mapping in man. II. Results and applications].

In the first part, the authors review the different methods used in gene mapping studies. In the second part, human chromosomes map is studied in details. The scientific usefulness of the map is summed up and the first applications in the field of genetic counselling are mentioned. Finally the forthcoming therapeutic applications are being planned at the time.

Chromosome Mapping↗