Active clinical trials for "Congenital Abnormalities"

The investigators propose a preliminary study performing exome sequencing on samples from patients and their biologically related family members with tracheal and esophageal birth defects (TED). The purpose of this study is to determine if patients diagnosed with TED and similar disorders carry distinct mutations that lead to predisposition. The investigators will use advanced, non-invasive magnetic resonance imaging (MRI) techniques to assess tracheal esophageal, lung, and cardiac morphology and function in Neonatal Intensive Care Unit (NICU) patients. MRI techniques is done exclusively if patient is clinically treated at primary study location and if patient has not yet had their initial esophageal repair.

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Each year world-wide, 2.5 million fetuses die unexpectedly in the last half of pregnancy, 25,000 in the United States, making fetal demise ten-times more common than Sudden Infant Death Syndrome. This study will apply a novel type of non-invasive monitoring, called fetal magnetocardiography (fMCG) used thus far to successfully evaluate fetal arrhythmias, in order to discover potential hidden electrophysiologic abnormalities that could lead to fetal demise in five high-risk pregnancy conditions associated with fetal demise.

An extension of the MINVI trial, the MINVI Follow-Up trial will evaluate the neurodevelopmental outcomes at 22-26 months corrected age of term/near term infants who received UCM or ECC.

The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.

Cerebral and medullary arteriovenous malformations (AVMs) are morphologically abnormal vessels located on the surface or in the cerebral or medullary parenchyma. These vascular lesions cause the arterial and venous networks to communicate pathologically, creating an arteriovenous shunt.The prevalence of cerebral Cerebral and medullary AVMs in general population is difficult to establish given the rarity of the condition. However, it is estimated at around 1 per 10,000 inhabitants (0.01%). About 15-20% of the cerebral vascular accidents are asymptomatic at the time of diagnosis. The occurrence of intracranial haemorrhage is the most important prognostic factor because it is associated with a significant morbidity and mortality. The management of an AVM is usually carried out in a multidisciplinary way, combining interventional neuroradiology, neurosurgery and vascular neurology. The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known. Several recent research works highlight mutations in the RAS-MAPK or MAPK-ERK signalling pathway in AVMs. In cases of cerebral AVMs considered to be sporadic, a somatic KRAS/BRAF mutation has recently been demonstrated in tissue samples of operated AVMs. Except in the case of Hereditary Haemorrhagic Telangiectasia (HHT or Rendu-Osler-Weber syndrome), the influence of genetic damage on the prognosis of AVM is poorly known. It is also interesting to note that genetic screening is not routinely performed in patients with cerebro-medullary AVMs and that therefore the prevalence of these clinical entities in patients with AVMs is not known.

This study aims to develop a new instrument capable of providing an efficient measure of the quality of life of parents of conservatively treated patients with spinal deformity. The development of a questionnaire in a Rasch environment and specifically developed for parents of conservatively treated patients will ensure greater sensitivity and specificity of the questionnaire.

Background: - A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called whole genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: To identify the genetic cause of disorders that are difficult to identify with existing techniques. To develop best practices for the medical and counseling challenges of whole genome sequencing. Eligibility: Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: Participants in this study will have at least one and in some cases several of the following procedures: A medical genetics evaluation. Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. Clinical photographs to document certain aspects of the disorder. Blood and skin biopsy samples, or other tissue samples, as required by the study doctors. Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo whole genome sequencing, which is a technique to study all of a person s genes. Some participants may be asked to take part in a telephone interview and/or a web-based survey. Participants will have choices about what kinds of results from whole genome sequencing they wish to learn. After the tests have been completed and the results of the genetic studies are known, participants will be offered a return visit to the National Institutes of Health to learn these results. During this visit, participants will be asked to complete surveys and participate in interviews related to their decisions to participate in the study and to learn individual genetic test results.

Visualization of the posterior fossa brain spaces, their spatial relationship and measurements can be obtained in the midsagittal view of fetal head, the same used for NT measurement (9), and plays an important role in the early diagnosis of neural tube defects, such as open spinal dysraphism (5), and posterior fossa anomalies, such as DWM or BPC (7). However, assessment of the fetal posterior fossa in the first trimester is still challenging due to several limitations including involuntary movements of the fetus and small size of the brain structures, causing difficulties for examination and misdiagnosis. Moreover, it is also operator-dependent for the acquirement of high-quality ultrasound images, standard measurements, and precise diagnosis. The use of new technologies to improve the acquisition of images, to help automatically perform measurements, or aid in the diagnosis of fetal abnormalities, may be of great importance for the optimal assessment of the fetal brain, particularly in the first trimester (10). Artificial intelligence (AI) is described as the ability of a computer program to perform processes associated with human intelligence, such as learning, thinking and problem-solving. Deep Learning (DL), a subset of Machine Learning (ML), is a branch of AI, defined by the ability to learn features automatically from data without human intervention. In DL, the input and output are connected by multiple layers loosely modeled on the neural pathways of the human brain. In the image recognition field, one of the most promising type of DL networks is represented by convolutional neural networks (CNN). These are designed to extract highly representative image features in a fully automated way, which makes them applicable to diagnostic decision-making. According to these observations, we propose a research project aimed to develop an ultrasound-based AI-algorithm, which is capable to assess the fetal posterior fossa structures during the first trimester ultrasound scan and discriminate between normal and abnormal findings through a fully automatic data processing.

The severity of sleep disorders in patients with Chiari malformations can vary. The investigators propose to establish a correlation between the severity of sleep-disordered breathing (SDB) and the quantitative neuroradiological data of the airways, cranial base foramina, and posterior cranial fossae