View clinical trials related to Congenital Abnormalities.
Filter by:Around 69-95% of children with Autistic Spectrum Disorder are known to have sensory processing abnormalities .Tackling these problems would help in better quality of life, both for the parents and the children. Sensory integration therapy, an individualized clinic based therapy have been shown to have a positive effect on those children with sensory abnormalities. Hence the investigators are doing this study , to primarily look into the efficacy and feasibility of home based sensory interventions in autistic children with sensory processing abnormalities.
The correlation between tooth inclination and bone thickness and the comparison between thickness measurements and buccolingual inclination before and after dental decompensation will be evaluated through tridimensional images in individuals with class III dentofacial deformities.
Blood transfusions are required for patients undergoing a craniosynostosis repair due to the significant amount of blood loss. Irradiated or non-irradiated transfusions have many risks involved including elevated potassium levels and graft versus host disease (TA-GVHD). Irradiated blood is able to destroy the leukocytes responsible for TA-GVHD, but it adversely causes elevated extracellular potassium due to hemolysis of the RBC's. When this blood is transfused, it may introduce too much extracellular potassium (> 6.5 meq/L) into the patient causing interference with the heart's conduction system significantly increasing the risk for hemodynamic changes, cardiac arrhythmias, and cardiac arrest. Hyperkalemia from rapid transfusions occurs much more frequently than TA-GVHD; however, both complications are under-reported. The study aims to evaluate the risk of irradiated versus non-irradiated blood in patients under the age of 6 months undergoing a craniosynostosis repair. This will be done by comparing the levels of extracellular potassium pre-transfusion, during transfusion, immediately after transfusion, and 30 minutes after the completion of transfusion. The investigators hypothesize that the patients who receive irradiated blood will have an increased extracellular potassium level compared to those who receive non-irradiated blood.
This study evaluates maternal psychological distress and the impact of early palliative care team consultation on maternal anxiety and depression symptoms, coping, and quality of life/family functioning in the care of neonates born with single ventricle physiology. Half of the participants will receive early palliative care team consultation, while the other half will receive usual care (no or late palliative care intervention). The investigators hypothesize maternal stress, anxiety, and depression will be lower in the palliative care intervention group compared with the control group, and maternal coping mechanisms and perceived quality of life and family functioning will improve at the pre-discharge assessment.
Assess Fetal Mortality and Malformations in Women treated with antihypertensive medication during preganancy. Mother - Child pairs will be analysed in a cohort selected from the UK in the CPRD database. Years covered are 1997 to 2014. Aim is to assess the risk of Antihypertensive treatment in women.
This pilot clinical trial study will assess the inflammatory response of brain tumors or other central nervous system conditions in pediatric and adult patients using ferumoxytol-enhanced MRI. Imaging features will be correlated with the number of inflammatory cells (macrophages) at histopathology. Determining the extent of inflammation associated with pathologies in the central nervous system may be helpful for diagnostic and prognostic purposes as well as monitoring treatment response of current and future immunotherapies.
Apparently balanced chromosomal rearrangement (ABCR) associated with an abnormal phenotype is a rare but problematic event. It occurs in 6% of de novo reciprocal translocations and 9% of de novo inversions. Abnormal phenotype, including intellectual disability and / or multiple congenital anomalies (ID/MCA) may be explained either by associated cryptic genomic imbalances detectable by array-CGH or by gene disruption at the breakpoint. However, breakpoint cloning using conventional methods (i.e., fluorescent in situ hybridization (FISH), Southern blot) is often laborious and time consuming and cannot be performed routinely. Without complete investigation of these rearrangements, genetic counseling is a real challenge. Recently, the investigators and others showed that Next-Generation Sequencing (NGS) is a powerful and rapid technique to characterize ABCR breakpoints at the molecular level. The ANI project (ABCR NGS ID) aims at characterizing at the molecular level ABCR in 55 patients presenting with intellectual disability and/or multiple congenital anomalies (ID/MCA) using NGS. The investigators make the hypothesis that ABCR account for the patient phenotype, either by gene disruption or position effect, since genomic imbalance would have been previously excluded by array-Comparative Genomic Hybridization (CGH). The ANI project is a 3-year-long study that will be conducted by a consortium of 21 partners, including 19 french hospital cytogenetics laboratories, a research team (TIGER), and a cellular biotechnology center. Patients will be recruited by each Cytogenetics laboratory. ABCR breakpoints will be molecularly characterized by NGS and a first bio-informatics analysis. The results will be verified by amplification of junction fragments by polymerase Chain Reaction (PCR) followed by Sanger sequencing, allowing the localization of breakpoints at the base-pair level. In some complex cases, FISH experiment will be necessary to clarify the results. A second bio-informatics analysis will then determine breakpoints' characteristics (sequence, repeated elements, gene and regulatory elements). Finally, for each breakpoint, gene expression studies will be performed including the gene disrupted by the breakpoint and two neighboring genes. All these data, together with those already available in the literature and databases will be integrated to determine if the gene could account for the patient's phenotype, allowing an appropriate genetic counseling. This project will identify new candidate genes involved in ID and developmental anomalies. It will also contribute to the development and evaluation of NGS as a diagnostic tool for ABCR and ID/MCA. It will also allow unraveling mechanisms and functional consequences of ABCR, in particular in term of position effect. In conclusion, the ANI project will contribute to the improvement of diagnostic management and genetic counseling of patients with ID/MCA and ABCR. It will also contribute to the understanding of ABCR physiopathology and to the unraveling of pathway involved in development and brain function, thus improving genetic counseling for ID/MCA patients in general.
Children born with univentricular heart will go through step surgery and end up with a Fontan circulation. A circulation with cause problems with body fluid balance.This project will evaluate changes in interstitial colloid osmotic pressure in patients 10 year after completion of a three step Fontan surgery. This project will evaluate whether increased micro vascular leakage and change in interstitial colloid osmotic pressure are present in patients after ten years with a Fontan circulation.
Anti-Müllerian hormone (AMH), also known as Müllerian inhibiting substance, is a dimeric glycoprotein that belongs to the transforming growth factor-beta family. It is involved in the regression of the Müllerian ducts during male fetal development. In the female, AMH is solely produced by the granulosa cells of preantral and small antral follicles, and regulates ovarian activity and follicular steroidogenesis
This is a Prospective, Double-center, randomized clinical trial. The purpose of the trial is to evaluate the benefit of adding POC US to the management of inpatients admitted to the internal ward with respiratory, cardiovascular or hemodynamic abnormalities.