Active clinical trials for "Congenital Abnormalities"

So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM). Several criteria and outcome measures have led to contradicting results. The investigators want to retrospectively assess the natural course of the disease in CCFDN and IBM patients according to the data recorded during clinical routine visits.

The objective of the study is to evaluate the association between certain markers in the blood of neonatal brain injury and specific Fetal Heart Rate monitoring findings using the device under study.

The key objective of the Leuven growing-into-deficit (GID) follow-up-study is to test the hypothesis that children with a congenital heart disease (CHD) show more neurocognitive impairment at the second follow-up at 7 years old than at the first follow-up at the age of 4, compared to healthy controls.

Routine analysis of coagulation profile is recommended before adenoidectomy, tonsillectomy or ventilation tubes insertion in children. A proportion of those children reveal borderline abnormal values of Partial Prothrombin Time (aPTT) or Prothrombin Time (PT) and then they are referred to a consultant hematologist for further evaluation and recommendations before surgery. The purpose of this study is to summarize the causes of referrals in a cohort of 200 children and to assess the further laboratory analysis preformed and the results obtained.

To develop a non-invasive, simple and affordable, measurement technique to differentiate hemangiomas from subtypes of VMS. The purpose of this study is to determine the best office based diagnositc instrument for differentiating the subtype of vascular lesions. The instrument must be simple and affordable so it can be used by primary car physicians in the doctor office. The procedure will be based on non-invasive and unharmful measurements that will be compared to the diagnosis from specialized physicians in this field and the final pathology.

This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 years of age and older with Ebstein's anomaly and healthy volunteers may be eligible for this study. Participants undergo the following procedures: Blood tests: Three tube of blood will be collected, with the total amount limited to about half a teaspon for each two pounds of body weight. Saliva sample collection: A small amount of saliva is collected by spitting into a sterile container. Oral (cheek) swab: Cells are collected from the mouth using a soft brush to swab the inside lining of the cheek. Electrocardiogram: The electrical activity of the heart is recorded using electrodes placed on the chest. Echocardiogram: Heart function is assessed using ultrasound.

The purpose of this cross-sectional study was to determine the interrelationships between health status and measures of cardiac performance in children 6 to 18 years of age with congenital heart disease who have undergone a Fontan procedure as surgical treatment for functional single ventricle. The goal was to develop a data set that will permit identification of a clinically relevant endpoint for subsequent trials of medical management of the Fontan patient.

We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.

The parameters of the sagittal balance of the cervical, thoracic and lumbar spine vary according to the types of spino-pelvic organization (types 1-4 according to Roussouly). These parameters have been described as a function of age in previous scientific work without taking into account the pelvic anatomy (pelvic incidence and spino-pelvic organization). This work, carried out within the framework of a round table of the French Society of Spinal Surgery (SFCR), would make it possible to provide a more detailed repository of existing radiographic parameters.

Computed tomography (CT) is the modality of choice to characterize pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. This retrospective study included patients with HHT-related PAVMs. CT results, PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess.