Search PubMed⌕ Search

Biomedical subjects

M Roussey

Publications and source records attributed to M Roussey.

At least 127 records · Page 7Linked to original sources
PubMedDate not supplied

Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound.

The authors report a case of tuberous sclerosis (TS), diagnosed by prenatal ultrasound, which was suspected by the detection of intracardiac tumours and confirmed by the family investigation. Cardiac rhabdomyomata can be visualized early on echography and must suggest this diagnosis. The place of genetic counselling and prenatal diagnosis in TS is examined.

Echocardiography↗
PubMedDate not supplied

[About five cases of congenital german measle (author's transl)].

The authors are reporting five cases of congenital german measles confirmed by serological and virological tests. They recall the circumstances in which the serological diagnosis of maternal german measles was arrived at during pregnancy: misinterpretation of the results had in four cases given the doctor a mistaken sense of security. Lastly, they are stressing the interest of prevention by systematic vaccination of girls aged 11 to 13 and women known to be seronegative.

Abnormalities, Multiple↗
PubMedDate not supplied

[Causes of school inadaptation in children. Detection in nursery schools and course].

Eight hundred and ninety, 3 year-old children attending public kindergarten of the Ille-et-Vilaine district were closely followed till the end of the first primary school year. 44.07% presented with one or several troubles for which prevalence and associations are detailed. 4.7% presented with 4 or more associated troubles. School life was not influenced by eyesight (14.5%) and hearing (4.4%) impairment because they were fairly often corrected. Motricity, speech and behavioural dysfunction seemed to be the most important prognostic factors: 2.1% of the children stay down the 3rd year of kindergarten and 9.7% the first year of primary school. The influence of socio-economic environment was obvious, both for the prevalence of troubles and for the school performances. This study suggests that current management of these problems should be improved.

Adjustment Disorders↗
PubMedDate not supplied

[Infantile mortality in Ile-et-Vilaine (1970-1986)].

The rates and the causes of infantile mortality between 1970 and 1986 in the district of Ille-et-Vilaine are reported. During that period, infantile mortality rate decreased from 18.7 to 7.06% and from 12.4 to 3.6% during the first week (0-6 days), thereby suggesting the efficacy of medical care programs for this pediatric age group in France. Since 1980, with more accurate record keeping, using the recommended international classifications, there is a relative stagnation in the rate or early neonatal deaths (3.97 to 3.67) as compared to a sizable drop in the rates of late neonatal deaths (1.90 to 0.73) and post neonatal deaths (4.63 to 2.57). Congenital abnormalities have become the most important cause of death (34%) before prematurity (24.58%). However, the number of congenital anomalies should quickly decrease with prenatal screening programs leading to interruption of pregnancies. Although the percentage of infantile deaths due to prematurity has decreased from 66% between 1970 and 1974 to 24.58% in recent years, prematurity remains an important cause of death. Infections have decreased and the Sudden Infant Death Syndrome is currently the most important cause of death during the postneonatal period. The well known factors of risks are confirmed and particularly increased vulnerability of the population with a low socio-economic status which should lead to appropriate prevention programs. Despite these very impressive results, birth remains the most vulnerable period of life and current efforts should continue. Priority must be given to the improvement of prenatal care which requires good ongoing collaboration between obstetrics and pediatrics and the use of the Maternity Health Booklet.

Congenital Abnormalities↗
PubMedDate not supplied

[Not-always-apparent abuse: the shaken baby syndrome].

The authors report 3 cases of infants presenting with cerebral lesions related to violent head shaking. They emphasize the diagnostic difficulties when the classical signs of the battered child (marks of blows, fractures) are lacking. The traumatism is rarely recognized: only the negativity of the usual medical causes of subdural hematoma, meningeal or retinal hemorrhage and a peculiar familial history lead to the possible diagnosis of shaken baby syndrome. The value of skull CT-scan is major, showing intracranial lesions which could not be found before. Because of the observed lesions, evolution is often severe.

Brain Injuries↗
PubMedDate not supplied

[Ophthalmologic evaluation at the age of 2 years of newborn infants hospitalized in the neonatology center at Rennes].

The eyes of 1 466 children (88.3% of the total) who were admitted to the Centre for premature babies and the neonatal intensive care unit at Rennes between 1973-1975 were re-examined at the age of 2 years. There were 839 premature and 226 term babies whose weight was appropriate for gestational age, and 74 premature and 327 term babies who were small for dates. 95 (6.5%) had eye disorders at the age of 2. Abnormalities were more common in infants with a Birth weight of less than 1 500 g and in those with a gestional age of less than 28-30 weeks. Boys were more commonly affected than girls. 38% of the children with eye disorders had other problems of which the commonest was mental retardation (75%). There was no relation between perinatal complication and the incidence of eye disorders. The most common abnormality was squint (94%) but other problems were major (blindness, cataracts, retrolental fibroplasia). 37% of the abnormalities had not been diagnosed until found in the survey at the age of 2 years.

Birth Weight↗
PubMedDate not supplied

[A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy].

Authors report the cases of a boy with a Menkes' disease which began by a convulsive encephalopathy at the age of two months with growth failure and metaphysical abnormalities. An oldest brother died at 2 years of age in an analogous scene. The diagnosis proved to be founded by the low serum copper and coeruleo-plasmia levels and by the increased uptake of copper in the cultured skin-fibroblasts. The hair was thin and kinky; microscopical study showed pili torti and trichorrhexis nodosa. For the following pregnancy of the mother, a prenatal diagnosis by precocious amniocentesis (amniotic fluid punction) allowed to say that the boy she was expecting for was clear of the disease because of the normal uptake of copper 64 Cu in cultured amniotic fluid cells of the foetus. Authors recall that Menkes' disease is a X linked recessive disorder beginning by epileptic seizure in the early months of life. The basic biochemical lesion of copper metabolism is unknown; there are abnormalities in copper and his binding protein (metallothionein) distribution with increased level is the kidney and decreased level in brain and liver. The copper therapy does not lead to clinical improvement. There is now a prenatal diagnosis: the study of copper uptake in cultured amniotic fluid cells of male fetus. It is abnormally increased in Menkes' disease.

Adult↗