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J Lepercq

Publications and source records attributed to J Lepercq.

8 recordsLinked to original sources
PubMed1996

[Pregnancy and the child of a mother with phenylketonuria].

Pregnant women with hyperphenylalaninemia are at high risk of spontaneous abortion and of giving birth to infants with congenital malformations, microcephaly and mental defect. Among mothers whose phenylalaninemia is greater than 1200 mumol/L (20 mg/100 mL), 95% have at least one child with mental retardation. A low phenylalanine diet with a good control of phenylalaninemia, started before conception, reduces this risk, better results being obtained when plasma phenylalanine levels are maintained below 360 mumol/L (6 mg/100 mL) as compared with levels maintained between 360 to 600 mumol/L (6-10 mg/100 mL). Thus, systematic contraception and planned pregnancies must be recommended in all hyperphenylalanemic young women. This implies early information of phenylketonuric teenage girls and their parents. In addition, efforts must be made to join and inform all women having had hyperphenylalaninemia at birth, whether they received a dietary treatment or not. It is also important that general practitioners, pediatricians and obstetricians be aware of the high recurrence risk in hyperphenylalanemic women who gave birth to a microcephalic or malformed infant.

Female↗
PubMed1996

Recurring episodes of meningitis (Mollaret's meningitis) with one showing an association with herpes simplex virus type 2.

Benign recurrent aseptic (Mollaret's) meningitis is a rare disease of unknown aetiology. We report the case of a 27-year-old woman who experienced three episodes of lymphocytic meningitis. Human Simplex Virus (HSV) type 2 DNA was detected in the CSF by PCR amplification indicating the diagnosis of recurrent HSV type 2 meningitis. Our observation suggests that search of herpes virus DNA by PCR amplification on CSF may be useful in unexplained recurrent meningitis.

Adult↗
PubMed1994

[Cystic fibrosis: gynecological and obstetrical aspects].

Survival in patients with cystic fibrosis has considerably improved over the last years. Young adults are particularly concerned. Fertility in these patients is greatly decreased, especially in men due to obstructive azoospermia. In women, intra-uterine insemination with her spouse's sperm can overcome anomalies in the cervical glair. Several pregnancies in patients with cystic fibrosis have been reported, especially in women with a mild form of the disease. Prematurity is frequent, about 35% as is perinatal mortality related to the mother's status. When lung involvement is severe leading to major obstruction and hypoxia, cor pulmonae and denutrition, pregnancy remains a contraindication. Care for pregnant women (when pregnancy is possible) should rely on a multidisciplinary team and include a rigorous nutritional and anti-infection support.

Adult↗
PubMed1993

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this study the abundant peripheral myelin protein zero (MPZ) gene, MPZ, was mapped 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22, and a major MPZ point mutation was found to cosegregate with CMT1B in one large CMT1B family. The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate. The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation. Both mutations occur in MPZ protein regions otherwise conserved identically in human, rat, and cow since these species diverged 100 million years ago. MPZ protein, expressed exclusively in myelinated peripheral nerve Schwann cells, constitutes > 50% of myelin protein. These mutations are anticipated to disrupt homophilic MPZ binding and result in CMT1B peripheral nerve demyelination.

Animals↗
PubMed1992

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts.

Since the isolation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) and the characterization of the main mutation (delta F508) in 1989, a large number of rare mutations has been found. Full screening of the CFTR gene is difficult because it is split into 27 exons covering 250 kb of genomic DNA. This gene is essentially expressed in the lung and intestinal tract, neither of which are easily accessible for routine investigations. The recent description of a faint transcription of highly tissue-specific genes in any cell, a phenomenon known as illegitimate transcription, would facilitate the research of mutations and the characterization of truncated m-RNA caused by splicing mutations. Using the polymerase chain reaction on cDNA (cDNA-PCR), we detected transcripts of the CFTR gene in lymphocytes and lymphoblast cells at a very low level (about 300 times less than in lung or intestine). This strategy allowed us to obtain a sufficient amount of cDNA-PCR product compatible with further molecular analyses. We have, therefore, analyzed a cDNA fragment overlapping exons 10 and 11 by polyacrylamide gel electrophoresis and direct sequencing, and detected the delta F508 mutation at this level. Our protocol can be generalized to the investigation of the total 4.5-kb CFTR coding sequence.

Animals↗
PubMedDate not supplied

Acromegalic pregnancy associated with a Beckwith-Wiedemann fetus.

BACKGROUND: Beckwith-Wiedemann syndrome is a rare serious condition with a high rate of malignant tumors. A relationship between Beckwith-Wiedemann syndrome and insulin-like growth factor (IGF) II gene located at the level of the 11p15 chromosomic region has been demonstrated. CASE: An acromegalic woman (elevated IGF I serum levels) undergoing pregnancy with a Beckwith-Wiedemann fetus is reported. We therefore reviewed data about this association and particularly fetal growth, and analyzed fetal blood samples for IGF I and II. CONCLUSION: We conclude that this association (i.e. Beckwith-Wiedemann syndrome and acromegaly) is independent, and point out that IGF I and II might be very high in the Beckwith-Wiedemann fetus.

Acromegaly↗