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Biomedical subjects

K Vandenberghe

Publications and source records attributed to K Vandenberghe.

At least 73 records · Page 4Linked to original sources
PubMed1987

Electrolyte composition of the amniotic fluid in Bartter syndrome.

In three patients with neonatal Bartter syndrome associated with polyhydramnios, analysis of the amniotic fluid showed normal sodium, normal-to-low potassium, but high chloride concentrations. This finding clearly suggests a renal chloride reabsorption defect as the primary cause of the neonatal form of Bartter syndrome. It is suggested that whenever polyhydramnios occurs, the electrolyte composition of the amniotic fluid should first be analysed in order to establish the diagnosis of Bartter syndrome.

Adult↗
PubMed1987

Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype.

In the present report we describe a mid-trimester Turner fetus with cystic nuchal hygroma, hydrops fetalis and 90, XX karyotype. This observation suggests that the development of a typical Turner syndrome in humans is apparently caused by a specific autosome/X chromosome ratio (44:1 in 45, X patients or 88:2 in the present fetus) rather than by an X-chromosome monosomy.

Abnormalities, Multiple↗
PubMed1987

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).

In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.

Abnormalities, Multiple↗
PubMed1985

A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst.

We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.

Abnormalities, Multiple↗
PubMed1984

Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas.

The antenatal ultrasound diagnosis of fetal abnormalities in 150 fetuses over the period 1975-early 1983 is reported. The perinatal outcome of the whole series has been assessed. The most frequently encountered malformations involved the central nervous system (34.9%), the nephro-urological system (17.2%), and the gastro-intestinal tract, abdominal wall and diaphragm (17.1%). Neonatal findings in incompletely explained polyhydramnions, fetal hydrops, and severe intrauterine growth retardation are also commented upon. Numerical chromosomal abnormalities were present in at least 13.3% of the malformed fetuses. The accuracy of the antenatal ultrasound diagnosis in a defined subgroup with congenital malformations resulting in perinatal death was analysed: in 76.9% one (or more) malformations were correctly diagnosed or relevant information was obtained. Comment is made on the obstetrical management and its inherent dilemmas, with appropriate references to the literature. Antenatal ultrasound, together with complementary techniques, can reach an acceptable level of accuracy, but associated anomalies may be missed. Groups for which there are different prognoses can be assessed, and serve as a guideline in perinatal management. Ethical attitudes, psychological aspects, and the possible promises of fetal treatment are briefly discussed.

Central Nervous System↗
PubMed1984

Cystic hygroma and multiple pterygium syndrome.

We report the prenatal detection of a cystic hygroma in a 17 weeks gestation male foetus with multiple pterygium syndrome. Ultrasonographic study was performed in this pregnancy after the birth of a macerated, hydropic male foetus with large cystic nuchal hygroma in a previous pregnancy.

Abnormalities, Multiple↗
PubMed1980

Prenatal diagnosis of Meckel syndrome.

Prenatal diagnosis of the Meckel syndrome was made at 15 weeks of gestation after the birth of a previous child with the same autosomal recessively inherited syndrome. This report emphasises the importance for Genetic counseling of delineating the Meckel syndrome from the multifactorial cases of neural tube defects and also illustrates the possibility of antenatal diagnosis.

Abnormalities, Multiple↗
PubMed1978

Prenatal diagnosis of homozygous familial hypercholesterolaemia. Expression of a genetic receptor disease in utero.

Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125I-L.D.L. Functional consequences of L.D.L. binding to the receptor--i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification--were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life.

Adult↗
PubMedDate not supplied

Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.

A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Carbon dioxide pneumoamnios causes acidosis in fetal lamb.

Recently developed techniques of video-endoscopic surgery may offer new hope for the future of fetal surgery. To allow this approach, the amniotic cavity has to be temporarily enlarged, either by carbon dioxide (CO2) insufflation or by amnioinfusion. In 6 anesthetized ewes, CO2 insufflation of the amniotic cavity produced severe fetal hypercapnia (from 57.6 +/- 1.6 to 87.0 +/- 7.0 torr) and acidosis (from 7.22 +/- 0.03 to 7.11 +/- 0.08) despite normal maternal CO2 pressure and pH. CO2 pneumoamnios does not therefore appear to be an ideal working medium. Fetal endoscopic surgery through amnioinfusion of physiologic fluid may be a safer alternative.

Acidosis↗
PubMedDate not supplied

Infrared fetoscopy in the sheep.

The strong light sources used in fetoscopy and embryoscopy may cause eye injuries to the fetus. To circumvent this potential hazard, we have successfully used an infrared light source and infrared video camera to perform 'night vision' fetoscopy in a fetal lamb model.

Animals↗
PubMedDate not supplied

Underwater Nd:YAG laser coagulation of blood vessels in a rat model.

Endoscopic coagulation of placental and umbilical cord vessels has been suggested as a treatment for selected cases of twin-twin transfusion syndrome and of acardiac twin. The feasibility, safety and hemostatic effect of neodymium:yttrium-aluminium-garnet (Nd:YAG) laser in an underwater environment were experimentally studied in an in vivo model, mimicking the in utero situation and fetoplacental vessels. In 10 male Wistar rats, immersed in normal saline at 38 degrees C, femoral vessels, carotid artery, abdominal aorta and vena cava were coagulated under endoscopic control. A 100-Watt Nd:YAG laser was used in continuous mode with a 600-micron fiber. Outcome measurements were vascular diameter, total energy (joules) used to obtain visual coagulation and subsequent vascular obliteration. Overall failure rate was 32% and perforation of the vessel occurred in 7.7% of cases.

Animals↗