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Biomedical subjects

C Francannet

Publications and source records attributed to C Francannet.

35 records · Page 2Linked to original sources
PubMed1993

The epidemiology of three serious cardiac defects. A joint study between five centres.

The paper reports a joint study made by five member programs of the International Clearinghouse for Birth Defects Monitoring Systems. Three specific heart malformations were studied, hypoplastic left heart syndrome (HLHS), transposition of the great vessels (TGV), tetralogy of Fallot, and some epidemiological characteristics were analyzed. The prevalence at birth was estimated to be 2.0, 2.9, and 2.2 per 10,000 births, respectively. No time trend in the prevalence at birth was observed for any one of the three malformations in the total study population. When only isolated defects were considered (infants without major non-cardiac malformations), all three cardiac anomalies showed an increased rate in infants with low birth weight, short gestational duration and probably twinning. A preponderance for males was observed for each defect but was strongest among infants with tetralogy of Fallot (sex ratio 2.5 for Fallot, 1.4 to 1.5 for the other conditions). There were also differences between the three cardiac defects with respect to percentage of low birth weight, preterm births, and rate and type of associated extracardiac malformations. This paper stresses the advantage of pooling data from different registries in studies of uncommon specific malformations and infrequent characteristics.

Adult↗
PubMed1989

[Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency].

We report on two cases of children suffering from biopterin synthetase deficiency. Both were treated with the same treatment schedule with biopterin and neurotransmitters: 6-hydroxytryptophan and dihydrophenylalanine (DOPA). The only difference between the two cases is the time of diagnosis and therefore of treatment. The child who was treated early has a normal neurologic development. The other one has been treated since he was 7 months old and is mentally deficient (DQ = 0.60). This older child also suffers from dystonia probably secondary to Levodopa treatment. The authors emphasize the uncertainty of these patient's evolution owing to complications of the disease itself or those due to prolonged treatment by neurotransmitters.

5-Hydroxytryptophan↗
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↗
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↗
PubMed1987

[Congenital stenosis of the aqueduct of Sylvius transmitted in an autosomal recessive mode (5 cases in 2 families)].

The authors report 5 cases of congenital hydrocephalus due to isolated stenosis of the aqueduct of Sylvius. In the first three cases (2 brothers and 1 sister) ventriculograms showed apparent obstruction of the aqueduct. A valve shunting was necessary at 1 month of age in cases 1 and 2, at 3 years of age in case 3. In cases 4 and 5 (1 brother and 1 sister) ultrasonic prenatal diagnosis showed ventriculomegaly and pregnancies were interrupted respectively at 31 and 28 weeks of gestational age. The pedigree of the families suggests that the inheritance of this abnormality is autosomal recessive. Such an inheritance is very unusual and confirms the difficulty of genetic counseling facing the first occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family. The prenatal diagnosis is based on fetal ultrasonic examination and may be obtained late in the pregnancy leading to therapeutic and ethical tricky decisions.

Abortion, Therapeutic↗
PubMed1987

[Value of muscle studies in the early diagnosis of Schwartz-Jampel syndrome].

The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).

Child, Preschool↗
PubMed1985

[Contribution of anatomic verification of the fetus and newborn infant in diagnosis and genetic counseling. Apropos of 221 autopsies].

The authors report the results of 221 post-mortem examinations of fetuses, newborns, and infants performed during 26 months and theirs involvements in genetic counselling. 10,8% of these cases are provided by therapeutic terminations of pregnancy; necropsy confirmed the diagnosis afforded except for maternal infectious diseases contracted during pregnancy in which post-mortem examination revealed generally no abnormality. Genetic diseases represented 33,7%: in these cases anatomic examination took variable role, it is more important in multivisceral malformative syndromes, sudden death of infancy, and histologically prominent feature diseases. In 38,5% of cases, medical acquired disease were found; it elucidated cause of death and generally permitted to carry out favourable genetic counselling. At least 17,1% of cases stayed unexplained after necropsy.

Autopsy↗
PubMedDate not supplied

Neural tube defects and maternal weight reduction in early pregnancy.

We present data from a case series in France of pregnant women who lost 2 to 14 kg during the first month after conception and whose fetuses developed neural tube defects (NTDs). Preliminary epidemiologic evidence from other data sets suggest that relative lack of weight gain during pregnancy may be associated with NTDs. The role of starvation, diabetes, and valproic acid in the etiology of NTDs is established. This etiologic information coupled with our data suggest an hypothesis that ketoacidosis induced by weight loss in early pregnancy is a risk factor for NTDs.

Adult↗
PubMedDate not supplied

Subfertility and atresias of the alimentary tract.

In a descriptive study on alimentary tract atresias (ATA), a protective effect at parity 2 compared to parity 1 led us to expect an increased rate of fertility problems in mothers of these infants. To test the hypothesis we looked at sex hormones exposures around conception in 811 cases collected between 1982 and 1993 by the France Central-East registry of malformations. Exposure to progestins was compared for combined ATA (at two or more different levels) vs. single ATA with an odds ratio of 2.51 (95% CI 0.43-9.96). Although not statistically significant, this odds ratio raises the question of an association that would be interesting to test elsewhere. Combined ATA also occurred after stimulation of ovulation more often than did isolated forms of ATA: OR = 3.52 (95% CI 0.98-10.31). Stimulation of ovulation was more often reported for infants with ATA than for those with other malformations: OR = 1.87 (95% CI: 1.24-2.81). These indications in favor of an increased risk of ATA for infants born to subfertile mothers/couples should encourage other groups to test the hypothesis on available data sets.

Anal Canal↗
PubMedDate not supplied

[Lethal syndromes with thin bones].

The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.

Bone Diseases, Developmental↗