Search results for "congenital abnormalities"

Molecular basis of filamin a-filGAP interaction and its impairment in congenital disorders associated with filamin a mutations

2008

Background Mutations in filamin A (FLNa), an essential cytoskeletal protein with multiple binding partners, cause developmental anomalies in humans. Methodology/Principal Findings We determined the structure of the 23rd Ig repeat of FLNa (IgFLNa23) that interacts with FilGAP, a Rac-specific GTPase-activating protein and regulator of cell polarity and movement, and the effect of the three disease-related mutations on this interaction. A combination of NMR structural analysis and in silico modeling revealed the structural interface details between the C and D β-strands of the IgFLNa23 and the C-terminal 32 residues of FilGAP. Mutagenesis of the predicted key interface residues confirmed the b…

Health outcomes of children born after IVF/ICSI: a review of current expert opinion and literature

2014

The Sixth Evian Annual Reproduction (EVAR) Workshop Group Meeting was held to evaluate the impact of IVF/intracytoplasmic sperm injection on the health of assisted-conception children. Epidemiologists, reproductive endocrinologists, embryologists and geneticists presented data from published literature and ongoing research on the incidence of genetic and epigenetic abnormalities and congenital malformations in assisted-conception versus naturally conceived children to reach a consensus on the reasons for potential differences in outcomes between these two groups. IVF-conceived children have lower birthweights and higher peripheral fat, blood pressure and fasting glucose concentrations than …

A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation

2012

Complications in Craniovertebral Junction Instrumentation: Hardware Removal Can Be Associated with Long-Lasting Stability. Personal Experience

2017

Background The causes of craniovertebral junction (CVJ) instabilities include trauma, rheumatological diseases, tumors, infections, congenital malformations, and degenerative disease processes; these complex pathologies often require CVJ instrumentation. Hardware complications were analyzed in a personal series of 48 treated patients. In light of the analysis of very unusual radiological and clinical findings, the authors tried to better investigate the related mechanisms and to reach possible useful conclusions. Methods In a series of 48 patients who underwent CVJ instrumentation and fusion procedures in our Institution, we describe three cases of hardware failure, due to: (1) infection; (…

Seasonality of Congenital Anomalies in Europe

2014

BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to etiologic factors. Methods: Data on births conceived in 2000 to 2008 were extracted from 20 European Surveillance for Congenital Anomalies population-based congenital anomaly registries in 14 European countries. We performed Poisson regression analysis encompassing sine and cosine terms to investigate seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 mi…

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

2012

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…

Heritability Estimates of Differences in Arbitrary Embryonic Mortality Traits in Turkeys

1971

Abstract INTRODUCTION SPECIFIC embryonic abnormalities in Broad Breasted Bronze turkeys which contributed to low hatchability were classified into eight groups which are referred to as traits in this paper. References to these traits or similar abnormalities in chickens and turkeys are shown in Table 1. The objective of this study was to determine the differences in the rates, relative to unhatched fertile eggs, at which these specific traits could be changed by artificial selection which was accompanied by inbreeding. Rapid changes would indicate the traits more responsive to selection. MATERIALS AND METHODS Four different strains of Broad Breasted Bronze turkeys were introduced as eggs to…

Trends in congenital anomalies in Europe from 1980 to 2012

2018

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003±2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to …

Growth patterns and associated risk factors of congenital malformations in twins.

2020

AbstractBackgroundThe rate of twinning continues to increase due to the combined effect of a rise in parental age and increased use of assisted reproductive technology. The risk of congenital anomalies in twins is higher than in singletons, but it is less well reported in relation to growth patterns. We focused to the auxological outcome of twin pregnancies when one or both of twins are affected by one or more malformations.MethodsWe conducted a retrospective observational study reviewing the clinical charts of twins admitted in the period between January 2003 and December 2018 at the University Hospital of Palermo. The associations between malformations and anthropometric variables at birt…

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study

2013

Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …