Search results for " FETUS."

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

2015

International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including…

DIAGNOSI PRECOCE DELLA VENTRICOLOMEGALIA NEL I° TRIMESTRE:CASO CLINICO

2013

THE HYDROCEPHALUS IS ONE OF THE MOST FREQUENT CONGENITAL ANOMALIES

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach.

1995

Based on two unrelated index patients afflicted with INCL, fetal chorion tissues were studied from subsequent pregnancies of the two respective mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies. Documentation of INCL was based on electron microscopy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by demonstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeletal muscle of one of the affected fetuses. The autolysis of the aborted tissues, however, precluded a systematic documentation of all affecte…

Rapid and improved gas-liquid chromatography technique for detection of hippurate hydrolysis by Campylobacter jejuni and Campylobacter coli

1987

A gas-liquid chromatographic method which requires no chloroform extraction of the split products has been investigated for the detection of hippurate hydrolysis by Campylobacter spp. This technique gave better reproducibility than other tests also used in this study and allows the routine use of the gas-liquid chromatographic method for identification of Campylobacter isolates.

Role of murine macrophages and complement in experimental campylobacter infection

1988

Summary. The roles of macrophages and the complement system as potential host defence mechanisms in mice against campylobacter infection were studied in vivo, by depleting the murine serum-complement or the phagocytic cells. Macrophage-depletion was performed by intraperitoneal (i.p.) injection of silica dust, Liquoid or dextran sulphate. During 5 days after infection, such mice showed a significant increase in mortality, compared with controls. In contrast, mice that were previously decomplemented by i.p. injection of Cobra Venom Factor showed no significant increase in mortality. The results with combined macrophage depletion and decomplementation did not differ from those with macrophage…

Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.

1995

Congenital absence of both lungs is an extremely rare malformation in humans and is thought to occur sporadically. We report the second case of congenital absence of both lungs in the offspring of one woman. In neither case, one female baby (born at term) and one aborted female fetus (21 weeks of gestation), were anomalies or malformations of other organ systems observed. The karyotype of the aborted fetus was 46,XX. To our knowledge, this is the first report describing bilateral pulmonary agenesis in two offspring of one mother. The repetition of virtually the same isolated abnormality with no other malformations supports the hypothesis that it could be caused by a genetic disorder. Other …

Prenatal diagnosis of mucolipidosis II (I-cell disease)

1976

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.