View clinical trials related to Congenital Abnormalities.
Filter by:Survival rates of children with severe congenital heart disease (CHD) have increased with ongoing medical progress over the past decades. However, many children with CHD face academic challenges during adolescence, which are associated with executive dysfunction. Executive functions (EF), higher-order cognitive processes allowing goal-directed behavior, can be particularly affected in children with CHD. To improve EF in affected children, a specific EF intervention has been developed. The intervention lasts a total of 8 weeks and is structured in 3 modules. The first module consists of a weekly strategy training in which problems resulting from executive dysfunction are addressed. Online games form the second module. These are games implemented online to promote EF through play. The third module is also based on games: The families receive several board games to play together at home. This third module is voluntary. This intervention is tested on its feasibility. As the intervention was built in a patient centered manner, we expect it to be feasible, showing in a high adherence rate and satisfaction.
This study investigated the effects of thee types of spaghetti No7 on the glycemic response
The discovery of congenital malformations and/or non-specific signs by ultrasound (5% of pregnancies) represents a real medical challenge. Their prognosis is variable depending on the underlying etiology, ranging from acquired fetopathies to rare genetic diseases. In France, the diagnostic approach is currently based on imaging examinations (ultrasound, brain MRI, 3D bone scans, etc.) and/or biological examinations, generally on invasive sampling (trophoblast biopsy, amniocentesis or fetal blood puncture) with infectious (CMV, toxoplasmosis, parvovirus B19, etc.), metabolic (enzymes in the bloodstream, etc.), and genetic (standard karyotype, FISH, array CGH and targeted gene sequencing) investigations. The yield of this strategy is about 30%, leaving 70% of couples without a possible prognosis. Over the last decade, medical genetics has undergone a technological revolution with the development of high-throughput DNA sequencing (HTS) allowing the analysis of targeted genes (panel) or the exome (ES). International studies published on the use of ES in prenatal diagnosis (PND) have become more common, with variable inclusion criteria, resulting in diagnostic rates between 15 and 36%, higher than those of array CGH (8-15%). In France, FHU TRANSLAD coordinates the national pilot study AnDDI-PRENATOME, which has made it possible to remove the technological barriers for PND ES and to obtain a diagnostic yield of 39% in 33 days on average. In parallel, the recent development of NIPD (Non-invasive prenatal screening) on free fetal DNA circulating in maternal blood has made it possible to propose a non-invasive strategy. However, this technique is currently used in prenatal care only in a few indications: determination of the fetal sex, search for aneuploidies, analysis of the fetal rhesus status or, more rarely, the targeted diagnosis of monogenic diseases. The team in Strasbourg has recently conducted a pilot study using an NIPD-panel in couples with a history of neomutation in a gene responsible for intellectual disability, which has demonstrated the feasibility of capturing and then sequencing a panel of 500 genes on free fetal DNA circulating in maternal blood. As high-depth exome sequencing from small amounts of DNA is now affordable and feasible, the investigators wish to compare invasive and non-invasive approaches for the discovery of fetal malformations on ultrasound: a trio exome analysis will be performed in parallel to circulating fetal DNA and fetal DNA extracted after an invasive puncture in order to compare the diagnostic performance of these two approaches. The investigators propose a pilot study in order to prepare an organizational evaluation including an evaluation of the stakes for coordination and interactions between professionals, the relevance of the system (acceptability, expectations, satisfaction of couples and professionals...), its effectiveness and efficiency. The aim of this pilot project will be to observe the organizational impact on the Plurldisciplinary Centers for Prenatal Disagnostics and the genetic laboratories, and to refine the indicators necessary for monitoring the system; it will also involve conducting exploratory interviews with professionals and couples in order to prepare the qualitative study that will subsequently make it possible to evaluate the relevance of the organization.
This study aims to investigate the effectiveness of photobiomodulation therapy (PBMT) in the prevention and management of radiotherapy-induced vaginal toxicity (RIVT). Therefore, we hypothesize that PBMT can reduce the severity of RIVT in gynecological cancer patients, increasing the patient's QoL and sexual functioning.
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations. The hypothesis is that there is one or more genes, in particular among those involved in the development of the axial skeleton and the cranium, which could lead to an abnormal morphology of the posterior fossa resulting in tonsillar herniation defining CM1. The abnormal circulation of cerebrospinal fluid due to tonsillar herniation is believed to be responsible, in some patients whose predisposing factors remain to be determined, for the progressive onset of associated syringomyelia. Since the determinants underlying the development of the posterior fossa of the skull are multigenic, the analysis of familial cases would make it possible to reduce genetic and phenotypic heterogeneity allowing to identify common pathogenic variants. For this study the investigators will be taking a blood sample to perform whole exome sequencing, build a biological collection and record imaging and clinical data.
Hemodynamics in the craniovertebral zone is often disturbed under the influence of a spondylogenic factor A complication of such changes can be from a slight decrease in cerebral circulation to ischemic changes in the vascular bed The patients underwent complex radiation diagnostics of the craniovertebral region of patients with verified Kimmerle's anomaly (N = 62) All examined patients underwent multispiral computed tomography (CT), ultrasound Doppler and transcranial Doppler (TCD) of the vertebral arteries (VA) Studies of the developmental variant of the first cervical vertebra with the presence of a bony bridge have shown that Kimmerle's anomaly can occur in all age groups
To establish the relationship in the five critical X-ray time points during multilevel posterior column osteotomies (MPCO) spinal deformity realignment in patients with adult spinal deformity and to follow the participants longitudinally to examine any follow-up X-rays and clinical data to compare to the post-operative standing scan and pre-operative data.
Research studies continues to attempt testing modifications to refine the treatment protocols through computer assisted design or computer-generated surgical Wafer splints, have greatly revolutionized the incorporation of digital imaging and 3D design in Orthognathic surgery. Integrating computer guided technology in orthognathic surgery aims to to simplify workup and reduce surgical errors, eliminate occlusal discrepancy, increase the realignment accuracy of the distal segments according to the preoperative plan. Implementing a waferless technique raised the question of efficiency versus the use of occlusal wafers and whether it has a significant measurable effect on the surgical outcome and objectives. Rationale for conducting this study is to assess the difference between the effect of computer guided waferless technique and computer guided technique with occlusal wafer on accuracy of postoperative occlusion and condylar position. .
The investigators aim to use artificial intelligence (AI) to help clinicians in diagnosing and assessing spinal deformities.
The purpose of this open-label study is to evaluate the safety and efficacy of cobimetinib in extracranial AVM.