Active clinical trials for "Congenital Abnormalities"

The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.

Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

This is a cross-sectional observational study with the aim to assess longterm outcomes in a large cohort of individuals with anorectal malformations. Patients managed for anorectal malformations at Karolinska University Hospital, Stockholm, Sweden, Stockholm 1994-2017 will be reviewed and they will be invited to respond to validated questionnaires evaluating bowel function (>4 years of age), urinary tract function (>4 years of age), sexual function (>18 years of age) and quality of life (>8 years of age). Data will be analyzed with descriptive and comparative statistics.

Out objective is to identify the mechanisms that promote hepatic and myocardial fibrosis, and collateral vessel formation in patients with complex congenital heart disease and Fontan circulation.

Multi-center, prospective, non-randomized study to evaluate outcomes of surgically treated patients with adult cervical spinal deformity.

The aim of this study is to collect systematically and proactively data regarding the performance of Neuro-Patch, like complications and handling, under daily clinical practice when used as intended by the manufacturer

In this study, the investigators seek to describe the normal 3D hip joint morphology in asymptomatic volunteers and compare it to various hip joint deformities. Asymptomatic volunteers will be asked to undergo a non-contrast MRI of the hip at 3 Tesla, utilizing a high-resolution morphologic 3D sequence (3D T2 DESS) that enables the segmentation of labrum and cartilage. 3D morphological parameters of the asymptomatic group will subsequently be compared with the 3D morphological parameters of patients with hip deformities, which were collected as part of a previous retrospective study.

The fetal CNS screening examination during the mid-trimester scan in low-risk pregnancies should include evaluation of the fetal head and spine, using transabdominal sonography. Evaluation of two axial planes allows visualization of the relevant cerebral structures to assess the anatomic integrity of the fetal brain.These planes are commonly referred to as the transventricular and transcerebellar planes. A third plane, the so-called transthalamic plane, is frequently added, mostly for the purpose of biometry. Structures that should be noted in the routine examination include the lateral ventricles, the cerebellum, the cisterna magna, and the cavum septi pellucidi (CSP). Head shape and brain texture should also be noted on these views.

This study aims to develop a new instrument capable of providing an efficient measure of the quality and quantity of adherence to Physiotherapy Scoliosis Specific Exercises performed at home by growing patients with spinal deformity undergoing conservative treatment at a specialized institution. The development of a questionnaire in a Rasch environment and specifically developed for this population will ensure greater sensitivity and specificity of the questionnaire.

This study will compare the accuracy of a real-time Cine sequence in assessing cardiac volumetry.