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Biomedical subjects

M C Imbert

Publications and source records attributed to M C Imbert.

At least 19 recordsLinked to original sources
PubMed1999

'LABNOTE', a laboratory notebook system designed for academic genomics groups.

We have developed a relational laboratory database system, adapted to the daily book-keeping needs of laboratories that must keep track of information acquired on hundreds or thousands of clones in an effective and user-friendly fashion. Data, whether final or related to experiments in progress, can be accessed in many different ways, e.g. by clone name, by gene, by experiment or through DNA sequence. Updating, import and export of results is made easier by specially developed tools. This system, in network version, serves several groups in our Institute and (over the Internet) elsewhere, and is instrumental in collaborative studies based on expression profiling. It can be used in many similar situations involving progressiveaccumulation of information on sets of clones or related objects.

Database Management Systems↗
PubMed1996

[Maternal and fetal retinoid assay. Two case reports of isotretinoin (Roaccutane) exposure].

We report on 2 women who were treated with retinoids (Roaccutan, isotretinoin) during the first trimester of their pregnancies. Therapeutic abortions were carried out. The interest in these case reports lies in the determination of concentration of isotretinoin and its metabolites (4-oxo-isotretinoin, and tretinoin) in foetal tissues, using high performance liquid chromatography. The findings show the significant transplacental passage of isotretinoin, an accumulation of 4-oxo-isotretinoin in the liver, and a low concentration of retinoids in the brain of these foetuses. Contraception must be used with retinoid treatment and for 4 weeks after retinoid withdrawal.

Abortion, Therapeutic↗
PubMed1995

Autopsies of sudden infant death syndrome--classification and epidemiology.

An enquiry into sudden infant death syndrome (SIDS) in 1987 furnished us with detailed epidemiological data for 281 cases that underwent a thorough post-mortem examination. This analysis uses these data to evaluate the role the autopsy plays in explaining sudden death. The cases were classified into three diagnostic groups: explained causes of death (group 1), unexplained deaths with anomalies (group 2), and no anomaly (group 3). These 281 cases show the three essential features that characterize SIDS: over-representation of males, increased deaths during the second and third months of life, and increased deaths during winter. The autopsy examination revealed that many of these deaths had a medical explanation. Almost half were assigned to group 1. At the time of autopsy, no precise pathology could be diagnosed for 147 deaths; of these, 140 showed histological anomalies. There were only seven sudden deaths for which no abnormal sign was evident at the autopsy. These results are compared with those of similar studies and discussed in connection with three factors: the initial selection of cases, the nature and degree of the investigations, and the possible interpretations of the symptoms uncovered.

Autopsy↗
PubMed1995

[Prenatal diagnosis of fetal varicella in the second trimester of pregnancy].

The first case of prenatal diagnosis of congenital varicella by amniotic fluid viral culture and PCR is reported. Chickenpox is a benign disease in children, but it can lead to severe complications in the adult, especially in the pregnant woman. Five percent of women in childbearing age are not immunised, and the incidence of gestational chickenpox is between 1 and 7 per 10,000. The consequences of this primary infection during pregnancy can be severe for the mother, because of the risk of serious varicella pneumonia, and for the fetus. The fetal infection depends on the gestational age at which the maternal infection occurs. The 2% evaluated risk of fetopathy is maximal between the 7th and 20th week of amenorrhoea. The reported congenital abnormalities are essentially cutaneous, neurological, ophthalmological and musculo-squeletal lesions. A prenatal diagnosis can be suggested: the revelation of defects by ultrasound scan confirms the fetal affection, and can justify pregnancy termination; on the other hand, amniocentesis and cordocentesis are not totally safe, and cannot always assert the fetal contamination or its level of affection. From the therapeutical point of view, prevention with polyvalent gamma-globulin is prescribed to non-immunised pregnant women who have been in contact with the virus. On the opposite, in case of contracted chickenpox, the treatment of the mother with an association of polyvalent gamma-globulin and acyclovir is still controversial since, although probably effective, it may not be safe for the fetus. The solution may reside in the vaccination, soon available, of non-immunised women in childbearing age.

Acyclovir↗
PubMed1994

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.

Abnormalities, Multiple↗
PubMed1993

Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome.

Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.

Abnormalities, Multiple↗
PubMed1992

Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature.

We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.

Abnormalities, Multiple↗
PubMed1992

[Primary leiomyosarcoma of the pulmonary artery. Apropos of a case. Review of the literature].

A 59-year-old woman hospitalised because of dyspnea and a heart murmur in a context of pyrexia was found to have evidence of obstruction of the pulmonary arterial system, clearly defined by ultrasonography, catheterisation and angiography and Imatron scan. The particular feature of this fifth reported case of pulmonary artery leiomyosarcoma is its documentation by transesophageal ultrasonography and tumor biopsy during catheterisation. Surgery with partial excision of the tumor was followed by survival for 6 months, bearing in mind the absence of chemo- or radiosensitivity of this type of tumor. Cases from the literature are reviewed.

Angiography↗
PubMed1990

Advanced combined intra-uterine and ovarian gestations: case report.

Combined intra-uterine and ectopic gestations are uncommon. Heterotopic gestations in which the ectopic pregnancy is located in the ovary are exceptional. We are reporting a 22 week heterotopic gestation with two live fetuses, one fetus was developing in the uterus and one in the ovary. Surgical excision of the ovarian pregnancy was conducted without disturbing the intra-uterine live fetus who was ultimately delivered uneventfully at term.

Adult↗
PubMed1988

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.

Abnormalities, Multiple↗
PubMed1988

[Clinical and anatomo-pathologic study of 59 cases of sudden infant death].

A proper organization has been set up at Antoine-Béclère's hospital in order to study the infants who died suddenly. Between July 1985 and July 1987, 69 cases (10 babies less than 1 week of age) were admitted. The purpose of this work was, for the 59 sudden deaths of infants aged more than 1 week (35 males, 24 females), to present the results of a definite protocol of investigation (past history, clinical examination, laboratory and pathological data) for determining either the etiology or the mechanism of these deaths. A thorough investigation was performed in 45/52 cases (no autopsy in 7 cases). A definite diagnosis was possible in 38/45: 13 viral infections, 5 gastro-esophageal reflux, 13 viral infections associated with reflux, 9 with an additional event (massive alimentary inhalation, slipping under blankets, major hyperthermia) to either a viral infection or a reflux, 1 cardiac malformation, 1 metabolic disorder, 2 accidents and 1 infanticide. With this protocol, 7/45 deaths remained unexplained. This medical approach of the problem of sudden deaths in infants is beneficial to the counselling of the parents and to the management of subsequent children.

Autopsy↗
PubMed1987

Morphological anomalies in the placentae of IVF pregnancies: preliminary report of a multicentric study.

Macroscopic characteristics of 100 fetal adnexae from pregnancies obtained by in-vitro fertilization and embryo transfer (IVF-ET) were compared with data for normal pregnancies taken from the literature. Material was obtained from 63 singleton, 15 twin, one triplet and one quadruplet pregnancies. The fetal and placental weights as well as the fetal:placental weight ratio were within the normal range for gestational age. Whilst placental morphology was normal, the insertion of the umbilical cord was frequently abnormal. Marginal (15%) and velamentous (14%) insertions of the umbilical cord were found more frequently than in a general obstetrical population (6% and 1% respectively). Excluding placentae from multiple pregnancies (which are known to have a higher incidence of abnormal cord insertion) the frequency did not decrease and remained significantly higher than in a normal population (P less than 0.01 and P less than 0.001, for marginal and velamentous insertion respectively). Abnormal insertion of the cord is of major clinical importance because of its association with vasa praevia and fetal haemorrhage (Benkiser Syndrome). Since this condition is thought to be caused by disturbed orientation of the blastocyst at implantation it is probably related to the IVF-ET procedure.

Embryo Implantation↗
PubMed1987

[Transfontanelle echography: correlation with anatomopathological data. Apropos of 39 cases in newborn infants].

Thirty-nine neonates including 29 prematures had correlation studies of trans-fontanelle ultrasounds with post-mortem anatomic findings. Occipital hyper-echogenicity can be physiological when it is symmetric in the premature infant, and may indicate ischemia and/or anoxia when it is asymmetrical. No abnormal pathology went undetected by echo. Cortical gyri were never seen prior to 32 weeks gestational age.

Cerebral Hemorrhage↗