[Bladder exstrophy and pregnancy].
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Bladder Exstrophy↗
Biomedical subjects
J Lepercq
Publications and source records attributed to J Lepercq.
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↗
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↗
[Placental leptin and pregnancy pathologies].
Leptin, the protein encoded by the Ob gene, is produced by the white adipose tissue and by the placenta during pregnancy. Placental leptin production makes a substantial contribution to maternal circulating levels during pregnancy which rapidly decrease and return to normal after delivery. Leptin has been detected in fetal plasma as early as week 18 of gestation, and umbilical leptin concentrations are closely related to birth weight. This has led to the hypothesis that fetal fat mass mainly determines fetal circulating leptin. Placental leptin production is increased in choriocarcinoma, preeclampsia and type 1 diabetes. Estrogens, hypoxia and insulin have been suggested as positive regulators of placental leptin production. Maternal leptinemia might act as a sensor of energy balance during pregnancy. The presence of both leptin and leptin receptors in the placenta suggests that leptin can act by autocrine or endocrine pathways in the human placenta. The roles of fetal leptin and consequences of increased placental leptin production in pathological pregnancies have yet to be elucidated.
Choriocarcinoma↗
Outcome of 116 moderate renal pelvis dilatations at prenatal ultrasonography.
To determine the incidence of urinary tract abnormalities detected in the presence of moderate fetal renal pelvis dilatation, we followed up pre- and postnatally 116 fetuses and children between 1985 and 1995. At prenatal ultrasound, 50 (43%) fetuses showed regressive dilatations, 57 (49%) a stable pattern, and 9 (8%) an evolutive pattern. In the presence of an evolutive dilatation, urinary tract obstruction was present in 8 cases. When a stable pattern was observed, i.e., a patent uropathy was present, surgical correction was performed in 27 of 53 (51%) cases. Regarding the postnatal evolution of 50 prenatal regressive moderate dilatations, we observed in 12 of 50 (24%) vesicoureteric reflux, of which 5 (10%) required surgical correction, and it is concluded that careful and extensive follow-up is mandatory.
Dilatation, Pathologic↗
Management and outcome of fetomaternal Rh alloimmunization in twin pregnancies.
Between 1987 and 1996, nine twin pregnancies with fetomaternal Rh alloimmunization were delivered at our institution. Eight pregnancies were dizygotic, and the fetal blood groups were different in 3 cases. The remaining pregnancy was monozygotic and monochorionic-diamniotic. Intravenous fetal exchange transfusion was performed in five pregnancies, up to five times in each twin in one pregnancy. No fetal death occurred. The average gestational age at birth was 35 (range 33-37) weeks. The hemoglobin level was 13.2 (range 9.2-16.5) g/dl. Fetomaternal Rh alloimmunization in twin pregnancy is according to zygosity; each fetus has to be treated separately, except in case of transplacental communication.
Adult↗
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↗