Active clinical trials for "Congenital Abnormalities"

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.

to investigate prevalence of upper limb musculoskeletal disorders and correlations to glycemic control.

The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system. SVs are a type of genetic alternation that includes deletions, duplications, and both balanced and unbalanced rearrangements (ex: inversions or translocations), as well as specific repeat expansions and contractions. The results of OGM analysis will be compared to prior clinical genetic test results to determine how OGM compares to current standard of care (SOC) clinical test methods such as chromosomal microarray analysis (CMA), karyotyping, Southern blot analysis, polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), and/or next generation sequencing (NGS), etc.

In previous studies exploring specific sequences of MRI (susceptibility weighted imaging (SWI) and arterial spin labeling (ASL)), the investigators have shown the great sensibility of these MRI sequences to detect arteriovenous shunts, compared to angiography imaging (static or dynamic). This prospective study aims to compare multisequence MRI to brain arteriography imaging in patients undergoing brain arteriovenous malformations embolization.

Arteriovenous malformations (AVMs) are complex and rare cerebral vascular dysplasia. The main purpose of treatment is to avoid the neurological impairment caused by hemorrhagic stroke. The Spetzler-Martin (SM) grading system is widely used to estimate the risk of postoperative complication based on maximum AVM nidus diameter, pattern of venous drainage, and eloquence of location. Generally, grade I and II are amenable to surgical resection alone. Grade III is typically treated via a multimodal approach, including microsurgical resection, embolization, and radiosurgery (SRS). Grade IV and V are generally observed unless ruptured. However, some previous studies indicated that despite the high rate of poor outcomes for high-level unruptured AVMs, the mortality for high-level unruptured AVMs are likely lower than untreated patients. With the development of new embolic materials and new intervention strategies, patients with high-level AVMs may have more opportunities to underwent more aggressive interventions. The OHAVM study aims to clarify the clinical outcomes for patients with SM grade IV and V AVMs after different management strategies.

By using radiostereometric analysis (RSA) we will be able to study growth during and after temporary epiphysiodesis and with great accuracy be able to detect asymmetric growth following this procedure. By using the same method we also want to analyse patients with axial deviations operated with guided growth (tension band plating) to study the growth during and after the procedure and be able to set the correct timing for removal of the implant.

The goal of this observational study is to assess the birth outcomes of HIV-positive women delivering in hospitals in Eswatini who are receiving dolutegravir (DTG) or other anti-retroviral (ARV) drug regimens. The main question the study aims to answer is, what is the proportion of neural tube defects among live and stillborn infants delivered by: HIV-positive women on DTG at conception HIV-negative women HIV-positive women on non-DTG ARV at conception Participants will be interviewed for information on HIV testing and antiretroviral therapy history, other medical history of selected conditions (e.g., diabetes, malaria, TB) and potential birth defect exposures. Photographs will be taken of the infants. Data on mothers' pregnancy history, birth outcomes, and HIV and ARV information (as applicable) will be collected from patient records.

The study will examine if variability in created value (outcome/costs) over the care cycle for ASD patients can be explained by patient and treatment characteristics.

One of the strongest risk factors for cancer in children and adolescents is being born with a congenital anomaly. In fact, data from registry linkage studies imply that 10-15% of childhood cancer risk could be attributable to having a congenital anomaly. As an estimated 10 million children worldwide are born with a congenital anomaly per year, the public health implications of identifying why some of these children develop cancer are thus substantial. While these studies have been informative, registry data alone offers no possibility of molecular or sequencing studies to identify the specific genetic basis underlying the co-occurrence of anomalies and cancer susceptibility. Therefore, the investigators developed the first phase of the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study to address these limitations. Using data from birth defects and cancer registries from four states, the investigators identified numerous novel specific anomaly-cancer associations. In the GOBACK Study the investigators identified an increase in cancer risk among children with any chromosomal abnormality and any non-chromosomal birth defect. Additionally, children with congenital anomalies developed a variety of cancers, therefore the investigators propose to evaluate a range of cancers among children with congenital anomalies. By pooling registry data across four states in the GOBACK Study, the investigators found that children with non-chromosomal birth defects have a significantly elevated risk of several childhood cancers. Notably several of these congenital anomalies are not characteristic of known cancer predisposition syndromes. Therefore, our preliminary studies lay the framework for this application. The objectives of the current study are to (1) interrogate the genomes of children with co-occurring non-chromosomal congenital anomalies and cancer enrolled in Project:EveryChild to identify genetic features associated with these combined phenotypes, and (2) verify congenital anomalies and determine the phenotypic spectrum among children with cancer enrolled in Project:EveryChild with self-reported congenital anomalies ("deep phenotyping"). For this study the investigators will utilize Project:EveryChild to identify, contact, and enroll case-parent trios for children with co-occurring non-chromosomal congenital anomalies and cancers. From each enrolled family the investigators e will collect DNA from the affected case and one or both biological parents to comprise each case-parent trio. The investigators will include siblings if available. The investigators will also characterize case-parent trios based on demographic and clinical characteristics utilizing information collected via self-administered questionnaires and medical records. Ultimately the findings from this study could lead to 1) determining the potential genetic mechanisms that underlie these co-occurring conditions; 2) improving cancer risk-management strategies among children with birth defects; and 3) identifying the role congenital anomalies play in outcomes and survivorship among children diagnosed with cancer.

The cerebral arteriovenous malformations correspond to the formation of an entanglement of morphologically abnormal vessels called nidus, which shunt the blood circulation directly from the arterial circulation to the venous circulation. The cerebral arteriovenous malformations are an important cause of hemorrhagic stroke. The hypothesis is that cerebral haemorrhage associated with a cerebral arteriovenous malformations would come from peri-nidal micro-vessels, in connection with infiltration of leucocytes and / or defective maintenance of microvascular integrity by platelets.