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J M Robert

Publications and source records attributed to J M Robert.

At least 73 records · Page 4Linked to original sources
PubMed1984

Paget's disease of bone. A scanning electron microscopic study.

Paget's disease is a human bone dysplasia with a probable viral origin. SEM studies on anorganic and acid etched biopsies confirm the osteocondensation and the structural and textural abnormalities (presence of woven bone). Corrosion casts revealed a complex scaffolding structure of vascular channels. On resting fronts, the domains are small and irregular and surfaces are different from human fetal woven bone. Mineralizing fronts extend largely on bone surfaces and present evidence of abnormal thickness. Resorption surfaces extend irregularly in multiple directions and are often found unusually deep. Irregularity of osteoclastic lacunae was also evidenced. This SEM study suggests that an osteoblastic qualitative dysfunction could be associated with the osteoclastic changes.

Bone and Bones↗
PubMed1984

[Prenatal diagnosis of a de novo trisomy case 9q-47,XX,+9 del(q33----qter)].

A case of de novo trisomy 9q- (deletion q33----qter) in utero diagnosed is reported. Features of this syndrome are described, compared with those of trisomy 9p et total trisomy 9. The possibility of prenatal diagnosis and the similarity of some features with nail-patella syndrome are focused.

Chromosome Aberrations↗
PubMed1983

[119 cases of spina bifida treated surgically. Results of genetic investigations and genetic counseling].

After the surgical treatment of 119 cases of spina bifida, the authors present their experience of the genetic approach of the subject. From 1976 to 1978, a resolution not directing attitude towards the parents of the affected children has resulted in a total failure to recognize the recurrence risk, and in an absence of special care for the next pregnancies. The consequence has been recurrence cases of spina bifida in 4 families. Since 1979, a genetic inquiry has been systematically carried out, and all the parents have had a genetic counselling. This permitted the birth of 25 normal infants. In one case, the prenatal diagnosis revealed a fetal meningomyelocele, and motived a therapeutical abortion. Nowadays the fiability of the prenatal diagnosis and the possibility of a prevention through periconceptional vitamin supplementation are strong arguments to give a genetic counselling to all the parents of children with spina bifida.

Acetylcholinesterase↗
PubMed1983

[Trisomy 21].

Explore the source record for details and available documents.

Adolescent↗
PubMed1983

[Is valproic acid teratogenic?].

In more than 7 000 cases of neonatal malformations processed up to 1982 in a regional computer register 71 infants had been born from epileptic mothers. A significantly higher than expected number of spina bifida aperta were observed in this group, related to the administration to the mother of the anti-epileptic agent valproic acid. A pathogenic hypothesis and a possible preventive procedure for this type of malformation are discussed.

Abnormalities, Drug-Induced↗
PubMed1982

[Regression of the cerebellar syndrome under long-term administration of 5-HTP or the combination of 5-HTP and benserazide. 26 cases quantified and treated using computer methods].

A quantitative evaluation of cerebellar ataxia, with an ataxia score (total, static, kinetic) and the measurement of objective values related to the major symptoms, is proposed. 21 patients with heredo-ataxias were treated for 12 months with high doses (16 mg/kg/day) of D-L-5-HTP, L-5-HTP or the association D-L-5-HTP (16 mg/kg/day)-Benserazide(6 mg/kg/day). A computerized processing of the data obtained by regular examination was performed. The ataxia showed a significant regression at the 12th month, mainly in the static performances and in the speed of speech. L-5-HTP appeared to be more active than D-L-5-HTP. The regression of the cerebellar ataxia was also observed in non degenerative conditions such as multiple sclerosis and surgical injury of the anterior lobe vermis, showing that 5-HTP was active on the cerebellar syndrome in general. The regression of the cerebellar ataxia was very slow in inherited diseases and continued for 2 or 4 months after the treatment stopped. A serotoninergic cerebellar control of motricity is discussed.

5-Hydroxytryptophan↗
PubMed1982

[Acetylcholinesterase of amniotic fluid: application to prenatal diagnosis of neural tube closing defects. I. Quantitative tests].

Acetylcholinesterase (AChE) in amniotic fluid from 165 normal pregnancies and 38 abnormal pregnancies was measured, using a direct assay of AChE activity after inhibition of ChnS with ethopropozine ("Lysivane"). Samples from normal pregnancies of 16-24 weeks gestation have a mean AChE activity of 2,7 U/1 and those obtained at 26-40 weeks have a mean level of 0,6 U/l. Contamination of amniotic fluid with fetal or maternal blood was observed to elevate AChE activity leading to uninterpretable results. Assays in artificial mixtures of amniotic fluid with maternal or fetal blood confirm the risk related to added erythrocyte number. Higher mean AChE activity, 8 U/l, was observed in association with open NTD, but in 7 cases the level was as in normal pregnancy. Elevated levels of AChE were found in association with Turner's syndrome (1) and intra uterine death (2); no increase was observed in 7 cases of omphalocele or laparoschisis, in 6 cases of atresia and 2 cases of hydrocephaly. In practice frequent occurence of bloody samples, specially from abnormal pregnancies, limits application of the test for antenatal open NTD diagnosis. This test appears as and useful preliminary stage providing informations for realization and interpretation of gel electrophoresis of cholinesterases.

Acetylcholinesterase↗
PubMed1982

[Amniotic fluid acetylcholinesterase and prenatal diagnosis of neural tube defects. II. Qualitative test].

The qualitative acetylcholinesterase (AChE) test has been used in conjunction with alpha-fetoprotein (AFP) assay on 255 amniotic fluid samples: 191 from normal pregnancies, 44 from abnormal pregnancies (foetal anomalies or intrauterine death). In all cases of normal amniotic fluid obtained before 25 weeks, gel revealed a single major band of non specific cholinesterase, even in fluids contaminated by maternal of foetal blood, whereas 5 fluids contaminated by foetal blood were false positive on AFP. In 8 normal specimens with clear aspect, obtained after 25 weeks, gel revealed a second (AChE) faint band, inhibited by BW 284 C 51. That result shows the risk of false-positive for samples obtained in late pregnancy. All 20 cases of neural tube defect gave a characteristic AChE band: large and intense band. In 9 cases of abdominal wall defect, 3 presented an AChE faint band, just as 2 cases of atresia and 2 cases of hydronephrosis. Negative AChE results were found un 1 case of congenital nephrosis, 3 cases of hydrocephaly and 1 case of teratoma. The main value of qualitative AChE test seems today in diagnosing neural tube defects with a greater sensibility and in classifying bloody fluids in which the AFP is at or above the cut-off level.

Acetylcholinesterase↗
PubMed1982

Delivery of genetic services in Lyons (France) 1960-1980.

In conclusion, the delivery of genetic services seems guaranteed now because it is based on a university school of medicine, important hospitals, and private resources. Other structures in different cities of the world are certainly as effective as or better than these. The European Club of genetic counseling was created in Lyons in 1972 to bring together the geneticists of 52 university towns of French-speaking Western Europe. The 120 members of this club meet each year for a congress. The themes of our seminars are genetic counseling and the exchange of information to allow us to improve the delivery of genetic services. Generally speaking, in the Rhône-Alpes region, the delivery of genetic services has indeed taken advantage of new discoveries. In an early stage, routine services have worked with conventional techniques borrowed from other centers. Today they enable us to reap the fruit of modern research.

Delivery of Health Care↗
PubMed1981

[Regression of human cerebellar ataxia under long term administration of 5-hydroxytryptophan].

18 patients with degenerative cerebellar ataxia were given for 12 months, high doses of D-L-5 Hydroxytryptophan (16 mg/kg/day) with a peripheral inhibitor of 5-HTP Decarboxylase. The ataxia was regularly evaluated with a semi-quantitative score and quantitative measurements, allowing a computerized processing of the data. A highly significant improvement of the static ataxia was observed at the 12th month, while adiadocokinesia, hypermetria and dysarthria were also influenced. These results could correspond to the presence of serotoninergic nerve terminals in the cerebellar cortex, the cerebellar deep nuclei and the inferior olivary complex. Moreover, the improvement of the ataxia continued for 3 months after treatment stopped, suggesting an effect distinct from the classical neuromediation phenomenon.

5-Hydroxytryptophan↗