Search results for "Prenatal"
showing 10 items of 419 documents
Prenatal low-level exposure to CO alters postnatal development of hippocampal nitric oxide synthase and haem-oxygenase activities in rats.
2001
The effects of prenatal CO exposure (150 ppm from days 0 to 20 of pregnancy) on the postnatal development of hippocampal neuronal NO synthase (nNOS) and haem-oxygenase (HO-2) isoform activities in 15-, 30- and 90-d-old rats were investigated. Unlike HO-2, hippocampal nNOS activity increased from postnatal days 15-90 in controls. Prenatal CO produced a long-lasting decrease in either nNOS or HO-2. The results suggest that the altered developmental profile of hippocampal nNOS and HO-2 activities could be involved in cognitive deficits and long-term potentiation dysfunction exhibited by rats prenatally exposed to CO levels resulting in carboxyhaemoglobin (HbCO) levels equivalent to those obser…
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive …
2023
Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de no…
Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults
2018
Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011
2015
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, …
Gestational exposure to cocaine alters cocaine reward
2006
Exposure of the developing foetus to drugs of abuse during pregnancy may lead to persistent abnormalities of brain systems involved in drug addiction. Mice prenatally exposed to cocaine (25 mg/kg), physiological saline or non-treated during the last 7 days of pregnancy were evaluated in adulthood for the rewarding properties of cocaine (3, 25 and 50 mg/kg), using the conditioned place preference procedure. Dams treated with physiological saline gained significantly less weight over the course of gestation than controls; no other differences were observed in the maternal and offspring data. All the animals developed preference to 3 and 25 mg/kg of cocaine, but those treated prenatally with c…
The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism
1976
The mucopolysaccharidoses are genetic disorders of glycosaminoglycan metabolism. Patients with these diseases accumulate within the lysosomes of most tissues excessive amounts of dermatan and/or heparan sulfates, or of keratan sulfate. The clinical consequences of such glycosaminoglycan storage range from skeletal abnormalities to cardiovascular problems, and to motor and mental retardation. In all mucopolysaccharidoses, except Morquio disease, an excessive accumulation of sulfate-labeled glycosaminoglycans has been demonstrated in fibroblasts cultured from the patient's skin. It was subsequently shown that this was due to the deficiency of specific proteins which were named "corrective fac…
INVESTIGATION INTO THE MECHANISMS UNDERLYING THE TRANSGENERATIONAL EFFECTS OF MATERNAL HIGH-FAT DIET-INDUCED DYSBIOSIS ON OFFSPRING BRAIN AND METABOL…
2021
Genetic and environmental factors, and their interactions, contribute to the etiology and pathophysiology of neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD). The clinical heterogeneity and phenotypic variability in patients with NDDs have made identification of causal mechanisms contributing to their onset difficult. Yet, unraveling the underlying causes of NDDs is essential to the development of appropriate preventive/therapeutic strategies. Maternal obesity is considered one of the main nongenetic risk factors for NDDs in progeny. We and others have found that high-fat (HF) obesogenic diets in both humans and animal models induce significant modifications in ma…
Prenatally detected double trisomy: Klinefelter and Down syndrome
2006
Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of u…
Standard international recommendations for gestational weight gain: suitability for our population
2020
Background: gestational weight gain (GWG) is one of the most commonly used indicators in prenatal care, and probably the most influential factor in perinatal outcomes. Objective: to determine the extent to which the GWG of pregnant women from the Ribera Health Department (Valencia) meets GWG international standards as recommended by the U.S. Institute of Medicine (IOM). Methods: a retrospective observational study of a sample of 4,361 women who gave birth at Hospital Universitario de la Ribera between January 1, 2010 and December 31, 2015. Pregnant women were classified according to GWG international recommendations: adequate weight gain, above and below. Results: a higher GWG increases the…
Pränatale Diagnostik der Sialidose, eines Defektes des lysosomalen Enzyms Neuraminidase
1988
Die Sialidose, eine lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen, ist ein genetischer Enzymdefekt mit stark eingeschrankter Lebenserwartung des betroffenen Kindes. Nach vorheriger Geburt eines an dieser Erkrankung verstorbenen Kindes gelang mit Hilfe der biochemischen Analyse von Amnionzellen der korrekte pranatale Ausschlus einer Sialidose unter Voraussage eines heterozygoten Ubertragerstatus. Aus nicht geklarter Ursache war das Wachstum sowohl der Amnionzellen als auch der postnatal untersuchten Fibroblasten deutlich vermindert. Diese Beobachtung sollte bei weiteren pranatalen Untersuchungen uberpruft werden. Die Moglichkeit der pranatalen Diagnostik einer Sialidose …