Active clinical trials for "Congenital Abnormalities"

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 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.

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.

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 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.

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.

Many childhood-onset diseases used to be lethal. Improved life expectancy yield that most patients can survive into adulthood, to date. However, survivors of childhood-onset diseases often develop morbidities that suggest accelerated aging. Indeed, age-related conditions are observed sooner and more frequently in people with childhood-onset diseases. Congenital heart disease (CHD) is a typical example of a childhood-onset disease and is the most common birth defect, comprising a spectrum of mild, moderate and complex heart defects. Recent studies showed that age-related morbidities occur more often and at an earlier age in these patients. The overall goal of this project is to quantify and understand disparities in chronological and biological age over the lifespan in CHD patients.

The purpose of the study is to describe the rate of bone fusion (radiological consolidation) in the 2 groups (A and B) 4 months after the operation.