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Biomedical subjects

N Mulliez

Publications and source records attributed to N Mulliez.

At least 37 records · Page 2Linked to original sources
PubMed1992

Thymic abnormalities in fetuses aborted from human immunodeficiency virus type 1 seropositive women.

Pathological abnormalities of the thymus were found in 3 of 37 fetuses aborted from human immunodeficiency virus (HIV)-infected mothers. These lesions were located predominantly in the thymic cortex, which contains mostly immature lymphocytes. Areas of focal lymphocyte depletion were infiltrated with CD4+ macrophages and were associated with abnormalities of the epithelial stromal network. No evidence of extensive HIV infection in any of the 37 thymuses was detected by either immunofluorescence or in situ hybridization techniques, although rare cells that expressed HIV antigens were found in 3 fetuses. Although less extensive, this thymic fetopathy was similar to that described in postnatal acquired immunodeficiency syndrome thymuses, strongly suggesting that the lesions were related to HIV infection. Thymic fetopathy might represent the initial injury to the lymphoid system in HIV-infected infants in whom early and severe immunosuppression develops.

Abortion, Induced↗
PubMed1991

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Abnormalities, Multiple↗
PubMed1990

Fetal hydrocephalus. Clinical significance of associated anomalies and genetic counseling: a pathological approach.

We report on a consecutive series of 94 cases of fetal hydrocephalus. Pathological and neuropathological findings have been thoroughly analysed in order to define more precisely the clinical significance of associated anomalies and their implications in genetic counseling. In 90.5% of cases, hydrocephalus was associated with other central nervous system (84%) or extra neural (56%) anomalies. True aqueductal stenosis occurred only twice in our series. In only 9 fetuses, hydrocephalus was an isolated finding, secondary to haemorrhage or infection. Since fetal hydrocephalus is an etiologically heterogeneous disorder, its recurrence varies greatly. Without a final diagnosis, based on well documented pathological data and cytogenetic studies, accurate genetic counseling and prenatal diagnosis in subsequent pregnancies would be impossible.

Abnormalities, Multiple↗
PubMed1988

Characterization of a 280-kD protein restricted to the coated pits of the renal brush border and the epithelial cells of the yolk sac. Teratogenic effect of the specific monoclonal antibodies.

Intermicrovillar areas and apical vesicles characterized by an extensive clathrin coat can be identified in some epithelial cell types. We describe a 280-kD protein, characteristic of these areas in the proximal tubule brush border and epithelial cells of the visceral yolk sac. When injected to 9-d pregnant rats, mAbs to the 280-kD protein regularly induced fetal resorption and/or malformations. Antibodies to a 330-kD protein that is also coated-pit-restricted had no effect. Our observations point to a key function for p280 and suggest that immunity to specific constituents of the receptor-mediated endocytotic system may be involved in the induction of fetal abnormalities.

Animals↗
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↗
PubMed1987

Cardiovascular abnormalities in thoracopagus twins: embryological interpretation and review.

The cardiovascular abnormalities of two sets of thoracopagus twins with conjoined heart and liver are described and compared with 27 well documented cases. An embryological interpretation of the cardiovascular abnormalities is suggested. The common heart in both sets showed a common atrium and two ventricles. In case 1 the great arteries were L. malposed in twin A. In case 2 the great arteries originated from their respective double outlet single ventricle. The systemic and pulmonary veins drained directly into the common atrium in case 1 and indirectly via systemic veins in case 2. The type of cardiovascular abnormalities are complex and discordent from one set to another and in the same set. However among 27 published cases of thoracopagus twins, cardiac union, including atrial union with separate ventricles, or atrial and ventricular union, was encountered in 16 cases. Approximately 90% of them are not suitable for surgical separation because of the high degree of cardiac union and the complexity of cardiovascular abnormalities. Surgical separation could be attempted in only two cases, but at the cost of the life of one of the twins.

Aorta↗
PubMed1987

Fetoacinar pancreatic protein in the developing human pancreas.

The distribution of the 110-kilodalton fetoacinar pancreatic (FAP) protein was examined in 56 pancreases obtained from human embryos and fetuses (ranging 6 from weeks of gestation to full term) and 10 normal adult pancreases. This recently discovered protein is a concanavalin-A-binding glycoprotein that is specific for acinar cells of the pancreas. Using a murine monoclonal antibody for either immunoperoxidase or immunofluorescence procedures, FAP-protein expression was not found in embryos at less than 9 weeks of gestation. At 9-10 weeks, a clear staining was observed in the terminal portions of dilated buds in primitive pancreatic tubular structures (i.e., the site of the first development of the future acinus). At 11-12 weeks, acinar structuration began, and FAP-protein expression increased as shown by the higher number of stained acini and the greater staining intensity. Maximal expression occurred at 15-22 weeks and then gradually decreased; from 28 to 32 weeks until full term, the pancreas was almost negative for this protein. In the adult pancreases, the protein was either absent or only present in acinar cells surrounding the islets of Langerhans. The pancreatic ducts and endocrine cells remained negative throughout gestation and in adults. FAP-protein thus appears to be a marker of acinar-cell differentiation. Its function remains unknown at present. Its close association with the growth and development of the pancreas together with the fact that, in a previous study, it was found to be re-expressed in pancreatitis and in cancer, suggest that it may play a role in developmental regenerative and neoplastic processes in the pancreas.

Adult↗
PubMed1986

VIP and histamine H2 receptor activity in human fetal gastric glands.

Vasoactive intestinal peptide (VIP, EC50 = 6.4 X 10(-10)M) and histamine (EC50 = 3 X 10(-6)M) activated the cyclic AMP generating system in gastric glands isolated from two human fetuses at 23 weeks gestation. Histamine antagonism by the H2 receptor blockers cimetidine (Ki = 0.35 X 10(-6)M) and ranitidine (ki = 0.51 X 10(-7)M) clearly characterized the histaminic activation as being of the H2 type. It is suggested that these two vasoactive hormones may operate as neurocrine/paracrine regulators of the differentiation and/or function of the human gastric mucosa in utero.

Cimetidine↗
PubMed1986

[Anencephaly and diprosopy: 2 cases].

We have seen two cases of diprosopy associated with anencephaly in Brittany between 1975 and 1984. Diprosopy is a partial or total duplication of the face. It consists of the phenomenon of late division in the embryo of the cephalic portion of the neural plate between the 16th and the 18th days. This gives rise to an incomplete type of monozygotic twinning or a conjoint twin. There are several different forms of the organs that are duplicated. We have seen a case of diprosopos distomos dirhinos diophthalmos and a case of disprosopos distomos dirhinos triophthalmos. These two cases were associated with anencephaly, the second also having a spina bifida and a diaphragmatic hernia. One can explain the incidence of anencephalies in cases of diprosopies by the desturbance created by the latter on the embryological events that succeed it. The delay in nerve formation makes it impossible for the neural tube to close completely, and this is why sometimes the anencephaly is associated with spina bifida. In more general terms one can postulate that all conjoint twins that are, of course, monozygotic and monochorial can interfere with early enbryological development and increase the risks of failure of the neural tube to close.

Abnormalities, Severe Teratoid↗
PubMed1985

Vasoactive intestinal peptide receptor activity in human fetal enterocytes.

Functional and specific receptors for vasoactive intestinal peptide (VIP) (determined by their capacity to bind 125I-VIP and activate adenylate cyclase) and cyclic AMP-dependent phosphodiesterase activities were characterized in enterocytes of human fetal small intestine between 18 and 23 weeks of gestation. Half-maximal stimulation of the cyclase and inhibition of 125I-VIP binding in membrane preparations were respectively observed at 1.4 and 5 X 10(-10) M VIP. The peptides structurally related to VIP activated the cyclic AMP generating system at pharmacological doses (10(-7) M and above) in the following order of potency: VIP greater than PHI greater than GRF greater than secretin. Other peptides or test substances, including GIP, pancreatic glucagon, somatostatin-14, gastrin, CCK, neurotensin, pancreatic polypeptide, PYY, substance P, histamine and isoproterenol are inactive in this system, while the ubiquitous adenylate cyclase activators NaF, forskolin and prostaglandins were effective. These results, combined with the appearance of intestinal VIP in nerve fibers at 8 weeks and with the morphological and enzymatic maturation at 9-12 weeks of the intestinal mucosa, indicate that this neuropeptide may regulate either the differentiation or function of enterocytes during the early development of human intestinal mucosa.

3',5'-Cyclic-AMP Phosphodiesterases↗
PubMed1985

Essential fatty acids interconversion in the human fetal liver.

In order to study the role played by the fetoplacental unit in providing the human fetus with arachidonic acid, delta 5- and delta 6-desaturase activities were studied in microsomes from human fetal liver and placenta after 18 and 22 weeks of gestation. We evidenced for the first time delta 5- and delta 6-desaturase activities in fetal liver microsomes. As in adult liver, delta 6-desaturation is the rate-limiting step of arachidonic acid synthesis. No activity was found in the placenta. Arachidonic acid concentrations were higher in fetal serum than in maternal serum while the opposite was observed for linoleic acid. The fetal liver microsomal content in arachidonic acid was low. Taken together the data suggest that arachidonic acid is supplied to the fetus through a preferential transfer across the placenta.

Chromatography, Gas↗
PubMed1984

[Fetus in fetu: report of 2 cases and analysis of the literature].

Foetus in foetu is a very unusual cause of abdominal mass in the infancy. Twenty cases only have been quoted in the literature. Two others cases are added, concerning two girls: a three months infant, second born from a genuine twin pregnancy, and a four weeks newborn whose the mass was discovered before the birth, on routine ultrasonography. In together, the diagnosis was made in operating room, then confirmed by pathologic studies. Literature data are recorded, and the difference between teratomas and foetus in foetu is point. The pathogeny remains obscure. It could result from the inclusion of a parasite twin in his bearer, become during embryologic stage of the delimitation.

Diagnosis, Differential↗
PubMed1982

[The incidence of congenital malformations. A five-year study carried out in a Paris maternity unit (author's transl)].

The congenital malformations arising out of 13,335 deliveries that occurred over the course of five years in the University Clinic of Gynecology and Obstetrics in the hospital of Saint-Antoine were recorded. Their overall frequency was 3.37%. Details are given of each malformation. Often malformations are linked to perinatal mortality (14.2% of stillbirths are malformed). There was no difference to be found between different ethnic groups. Pathological developments in previous pregnancies were not particularly frequent. Bleeding in the first trimester of pregnancy was significantly more frequent in congenital abnormalities.

Abnormalities, Multiple↗
PubMed1976

[Toxoplasmosis and pregnancy. Evaluation of 2 years of prevention of congenital toxoplasmosis in the maternity ward of Hôpital Saint-Antoine (1973-1974)].

The authors report the results of prophylaxis of congenital toxoplasmosis in a maternity hospital in Paris for a two years period (1973-1974). 6269 pregnant women were surveyed. 18 toxoplasmosis were detected in evolution at the first prenatal examination, 10 seroconversions were identified among the first examination antibody negative women, when re-examined during the pregnancy. 25 of these 28 women were treated regularly. The seroconversions of the 3 other women were detected only at delivery. In addition 25 women were treated because of high antibody titers (Dye-Test greater than or equal to 300. U.I/ml). 6 congenital toxoplasmosis, 2 of them were manifest, were observed among the children whose mothers were treated for confirmed toxoplasmosis. The extremely low level of seroconversions may be in relation to hygienic and dietetic prescriptions. The difficulties of this prophylaxis are analysed: they are due to studied population and to problems of interpretation or serologic examinations.

Female↗