Active clinical trials for "Congenital Abnormalities"

The human microbiota, a collection of microorganisms mostly settled in the gastrointestinal tract, plays a major role in the maintenance of the hosts' health and in development of disease as well. Exposure to different conditions early in life contributes to distinct "pioneer" bacterial communities, which shape the newborn infants' development and influence their later physiological, immunological and neurological homeostasis. Newborn infants with congenital malformations of the gastrointestinal tract (CMGIT), necrotizing enterocolitis (NEC), and spontaneous intestinal perforation (SIP) commonly require abdominal surgery and enterostomy. While intestinal microbiota has been extensively studied in infants with anatomically uninterrupted intestine, the knowledge of longitudinal intestinal colonization in this population is scarce. This is an exploratory, observational, and longitudinal prospective study, primarily aimed to determine longitudinally the colonization of the proximal remnant intestine, in newborn infants with enterostomy after surgery (three weeks) for CMGIT, NEC and SIP. The secondary aim is to explore the associations of the colonization with the mode of delivery, gestational age, postnatal age, duration of fasting, type of enteric feeding, antimicrobial therapy, H2-receptor antagonist therapy, and length of proximal remnant intestine.

fetal gastro intestinal abnormalities can be accurately diagnosed in second trimester

EPIRMEX is a complementary study to the national cohort EPIPAGE 2 the INSERM Unit 953 is responsible. The objective of this study is to evaluate at the age of 5 years corrected executive functions in children born very prematurely in relation to structural brain abnormalities in magnetic resonance imaging (MRI) (technical conventional and advanced) performed at the age of term. The current study is a project on a subset of the population of premature EPIRMEX subjects who had an advanced technique as magnetic resonance spectroscopy (MRS). It is a recent imaging technique for a study of the cerebral metabolism. It is based on the detection of cerebral metabolites, and the variations of their concentration to characterize different pathologies. In most cases, combinations of metabolites are informed creatine + phosphocreatine (CR), glycerophosphocholine + phosphocholine (CHO) + Nacétylaspartate Nacetylaspartylglutamate (NAA), myoinositol (INS) and lactate (LAC). In the premature newborn, the NAA / CHO ratio increases with age in all brain regions. The LAC / NAA ratio decreases significantly with age in the thalamus, basal ganglia, the corticospinal tract, and parietal white matter tends to decrease elsewhere . A number of studies show that proton spectroscopy term can predict the long-term newborn who presented an anoxic-ischemic encephalopathy .These studies indicate that an increase in lactate and a decrease in NAA are correlated with abnormal neurological development. And decreases in NAA / CR and / or NAA / CHO ratios are predictive of motor abnormalities in children with anoxic encephalopathy presented an ischemia . These decreases were also measured in the basal ganglia, occipital cortex, and areas near the last. Few studies have explored the magnetic resonance spectroscopy of proton-term prediction of the future of large premature.

The corpus callosum agenesis is an interesting malformation between 0.05% and 1.5% of the general population. This malformation is mostly diagnosed prenatally by ultrasound, usually at 22 weeks of gestation, and the use of prenatal advice is routinely offered to the couple. Several studies in recent years have helped to define the determinants of prognosis for the unborn child suffers from agenesis of the corpus callosum, whether total or partial. These, mainly retrospective, demonstrated that the isolated nature of the deformity (defined as no other brain malformations and brain extra, absence of abnormal karyotype, maternal poisoning or viral seroconversion when pregnancy) is associated with favorable developments in terms of psychomotor development in 80% of cases Similar results were also found in prospective studies, while the associated nature of the defect seems most heavily encumber the prognosis as other malformation or syndrome associated with agenesis of the corpus callosum Although these recent data have already significantly influence prenatal counseling and outcome of pregnancy, questions about the future of the child carrying a prenatal diagnosis of agenesis of the corpus callosum are still valid.

The aim of this study is 1) to study the clinical application of 3D/4D ultrasound for fetal scanning during pregnancy; 2) ) to study the clinical application of 3D/4D ultrasound for pelvic scanning; 3) to demonstrate how to optimally display the different organs. 4) to correlate our findings with other diagnostic tools like MRI, CT; 5) to correlate our findings with clinical outcome.

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.

The goal of this study is to identify genetic alterations resulting in the development of arteriovenous malformation (AVM) in the central nervous system.

This register study will collect the treatment information of the intracranial arteriovenous malformation patients in China. We aim to understand the current treatment situation of the disease in China.

The purpose of the study is to estimate the rate of risk factors for appearance of disease or fetal malformations in a population who turn to hospital "Hillel Yaffe" and examine whether there is a difference in the rate of early testing for diseases or birth defects in the fetus. Understanding the population and its risk factors, will allow specific reference to these risk factors to lowering them to eventually reduce the rate of congenital malformations in this population.

This study will thus examine daily behaviour based on smartphone use and link it to the neurological and neuropsychological status as well as to neuroradiological studies that are part of the clinical routine. The study will examine behaviour changes before and after surgery, and how this change in measured behaviour with the smartphone relates to today's "gold standard", namely professional neuropsychological examination and quantification of brain damage on imaging studies (MRI). This study is a proof-of-principle study that intends to build the basis for larger future observational studies on patients with focal or diffuse brain pathologies.