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Biomedical subjects

G Lefort

Publications and source records attributed to G Lefort.

At least 55 records · Page 3Linked to original sources
PubMed1994

[Rapid in situ detection of chromosome 21 by the PRINS technique].

The PRINS technique has been used to rapidly detect chromosomes 21 in both metaphases and interphase nuclei. A specific labeling was obtained in preparations from lymphocytes and amniotic fluid cells. The method is based on annealing of specific oligonucleotide primers and subsequent primer extension by a Taq DNA polymerase. PRINS is an interesting alternative to in situ hybridization for cytogenetic diagnosis and physical mapping.

Amniocentesis↗
PubMed1993

Multifetal pregnancy reduction: a consecutive series of 61 cases.

OBJECTIVE: The effect of selective fetocide on the course of 61 multiple pregnancies. DESIGN: An observational study. SETTING: A tertiary centre. SUBJECTS: 61 women whose pregnancies included 37 triplets, 18 quadruplets, 5 quintuplets and 1 hepatuplet; 97% followed IVF or the induction of ovulation. The aim of the procedure in most cases was to obtain twins. INTERVENTIONS: Selective reduction was performed before 13 weeks gestation under general anaesthesia, using either a transcervical (n = 26) or transabdominal approach (n = 35). Fifty-four twins, 4 singletons and 3 triplets were obtained after the procedure. MAIN OUTCOME MEASURE: Preterm labour rate. RESULTS: The rate of unplanned fetal loss was 13% and was related to the number of suppressed embryos (P < 0.05). The preterm labour rate was 56.6%, the mean gestation at delivery was 35.6 weeks. Seven deliveries were before 32 weeks and led to all neonatal deaths. A comparison with published data suggested that fetal reduction reduced the rate of preterm labour in high multiple pregnancies; in 24 twin pregnancies obtained after reduction of triplets there was probably a gain of 2 weeks gestation. Severe growth retardation occurred in 13%. The perinatal mortality rate was 10.8%. CONCLUSIONS: Selective termination reduces but does not prevent early preterm labour. The procedure is of value in pregnancies with more than 3 fetuses and should be considered carefully for triplet pregnancies.

Abortion, Induced↗
PubMed1993

Late vaginal induced abortion after a previous cesarean birth: potential for uterine rupture.

This descriptive study was conducted to evaluate the risk of uterine rupture in cases of late vaginal induced abortions among women with previous cesarean sections. 23 women were referred at a mean gestational age of 23.9 (SD 6.9) weeks of gestation after one or two cesarean sections. Indications for terminating the pregnancy were maternal diseases in 4 cases and fetal anomalies in 19 cases. RU 486 and/or prostaglandins were used for cervical ripening and to induce labor. Vaginal birth was obtained in 20 cases (86.9%) with an average duration of 72 (SD 52) h. Cesarean section was performed in the remaining 3 women because no cervical dilation could be obtained. One uterine rupture occurred and was treated with conservation of the uterus. Late termination of pregnancy in such cases can be achieved without cesarean section with a high success rate.

Abortifacient Agents, Nonsteroidal↗
PubMed1993

Familial cystic hygroma. Report of 8 cases in 3 families.

The authors report 8 cases of familial cystic hygroma concerning 3 families. In the first family, the two affected fetuses with normal karyotypes showed cystic hygroma of the neck associated with campomelic long bone disease. No other fetal anomalies in the two fetuses were found in the second family, and only one of the four abortuses revealed associated malformations (meningomyelocoele, cleft palate) in the third family. In all these cases, parental consanguinity is found, supporting an autosomal recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1993

Multiple congenital anomalies associated with an oto-palato-digital syndrome type II.

We report the case of a male fetus with an oto-palato-digital (OPD) type II syndrome and multiple congenital anomalies (MCA) including omphalocoele, hypospadias, thoracic dysplasia, skeletal abnormalities, pulmonary hypoplasia and an absent right adrenal gland. These MCA are sometimes reported in Melnick-Needles syndrome, which leads us to discuss the possibility that the spectrum of malformations in these two syndromes might be due to two allelic forms of the same X-linked gene.

Abnormalities, Multiple↗
PubMed1993

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

Linkage analysis was performed in a three generation family with three males affected by the recently delineated X-linked form of alpha-thalassemia/mental retardation syndrome (ATR-X). Results are in agreement with the linkage study reported by Gibbons et al in 1992 and further confirm that the ATR-X gene is located in proximal Xq. Positive LOD scores were obtained for several markers situated in the pericentromeric region. A maximum LOD score of 2.09 at a recombination fraction of 0 was obtained for DXS453 located at the boundary q12-q13.1. The nearest flanking loci demonstrating recombination with the disease locus were AR at Xq11.2-q12 on the centromeric side and DXS72 at Xq21.1 on the telomeric side. Consequently the authors were able to reduce the previously defined candidate region for the gene location. Their results are compatible with a distal boundary at Xq21.1 instead of q21.31.

Chromosome Mapping↗
PubMed1993

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.

Three male patients with X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome in a large French family are reported. Diagnosis was suspected on particular craniofacial dysmorphism associated with severe mental retardation and X-linked transmission. Hematological investigations, and in particular presence of Hb H inclusions in two of the boys, confirmed diagnosis. The clinical, hematological and radiological features are discussed in order to better define what appears to be a characteristic phenotype.

Child, Preschool↗
PubMed1992

Interstitial deletion of the distal long arm of chromosome 4.

We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal deletions of 4q31----qter probably mainly results from loss of the segment q31----q33-34.

Abnormalities, Multiple↗
PubMed1992

Cordocentesis versus amniocentesis for rapid fetal karyotyping in cases of late referral of women.

Eighteen women were referred for fetal karyotyping because of advanced maternal age (over 38 years) later than 23 weeks' gestation. In order to obtain more rapid karyotypes, cordocentesis rather than amniocentesis was performed. All procedures were successful, leading to the obtention of normal karyotypes in all cases. No fetal incidents occurred and results were obtained more rapidly than by amniocentesis. We suggest the use of cordocentesis rather than amniocentesis in cases of late referral of women.

Adult↗
PubMed1992

Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.

It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.

Abnormalities, Multiple↗
PubMed1992

Apert syndrome with partial preaxial polydactyly.

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.

Acrocephalosyndactylia↗
PubMed1991

Epidemiology of diaphragmatic hernia in Languedoc-Roussillon.

The frequency of diaphragmatic hernia (DH) varies, according to the studies, between 1/2000 and 1/7000. In the Languedoc-Roussillon (South of France), due to the presence of a Regional Foeto-Pathology Department and Medico Surgical Paediatric Department, it was possible to itemize all of the DH over a 24 month period (June 1989----May 1991). 20 children presenting DH (10 foetuses and 10 liveborns) were examined for a total population of 49.350 foetuses and liveborns (frequency of DH: 0.40/1000). 10 DH were associated with extra-pulmonary malformations (50%). 4 chromosome abnormalities were found (20%). Prenatal chromosome analysis in cases of ultrasound malformation detection has increased the number of karyotype abnormalities diagnosed.

Chromosome Aberrations↗
PubMed1991

[Femoro-patellar instability in children and adolescents].

93 knees in 74 patients between 9 and 20 years of age were operated because of patello-femoral instability. In 76 cases, it was due to an intractable patello-femoral syndrome and in 17 cases one or several episodes of patellar dislocation had occurred. Treatment consisted, after failure of physical therapy, 14 times in a leavering of vastus medialis with a lateral capsular release and medial capsularrophy. In 71 cases it was associated to a medial transfer of the patellar ligament. Results were studied in 85 knees after an average follow-up of 6 years. 45 knees were completely symptomless, an excellent result. 34 knees remained with some kind of pain and 6 patellae redislocated. It is concluded that the transfer of the patellar ligament should be associated to the dynamic realignment achieved by the vastus medialis transfer for better results.

Adolescent↗
PubMed1990

[Value of the corticoliberine test in the etiologic diagnosis of Cushing's syndrome].

Several studies have demonstrated that the corticotropin-releasing factor test (CRF) is useful for the aetiological diagnosis of Cushing's syndrome: in Cushing's disease, as opposed to ectopic ACTH secretion syndrome, the hypothalamus-pituitary-adrenal (HPA) axis can still be stimulated by CRF. In the present study, we compared the CRF test with the reinforced dexamethasone suppression test in 18 patients: 11 with Cushing's disease, 6 with ectopic ACTH secretion and 1 with adrenal gland adenoma. We obtained 2 false-negative results with the CRF test and 1 false-positive result with the dexamethasone suppression test. Our study, together with published data, suggests that the CRF test is useful in the exploration of Cushing's syndromes of uncertain origin. However, the results obtained with this test must be compared with those of other methods used to explore the HPA axis and which are still necessary.

Adolescent↗