Active clinical trials for "Congenital Abnormalities"

This study compares the results of current standard coagulation measurement devices to the Quantra System, a new device, using small amount of extra blood obtained during routine blood draws in neurosurgery patients.

Congenital heart defects are the most frequent manifestation of congenital diseases (8 per 1000 live births). Imaging modalities play an increasing role in their diagnosis, follow-up, and pre/post-surgery check-up. Echocardiography usually provides a first line diagnosis, but Coronary CT Angiography (CCTA) also demonstrated its usefulness whenever accurate modelling of anatomic structures is required. CCTA is well defined for adult patients. This is not the case for paediatric population, which rises two main difficulties: The use of ionising radiation in young subjects involves a very radio-sensitive population, potentially subject to multiple exams during their follow up. Technical issues related to young patients: No breath-holding, uncontrolled movements during acquisition, very high heart rates (making ECG gating more complex) and very small structures. These conditions usually result in a deteriorated image quality or in radiation dose increase (retrospective gating). These two outcomes are not acceptable for both, clinician and patient. In this study, investigators make the hypothesis that despite difficult conditions stated above, ultra-low dose acquisitions may results in diagnostic quality acquisition, thanks to state of art CT technologies combined with acquisition parameters specially designed for that purpose. Investigators aim to demonstrate feasibility and performances of such exams.

International Observational E-Registry on the use of DILAPAN-S® osmotic dilator / DILASOFT® osmotic dilator for cervical ripening prior to labour induction.

The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.

When compared to existing analyses: manometry, Smart Pill and lactulose breath testing, external Acoustic Esophago-Gastro-Intestinal Surveillance (AEGIS) may identify unique audible patterns characteristic of features of gastroinestinal (GI) motility, gastric and small bowel contractions and emptying and small intestinal bacterial overgrowth (SIBO). This research study is designed to test the capabilities of AbStats/AEGIS to identify and associate symptoms and traditional diagnostics with sound readings and correlate this data with treatment outcomes and successes in standard of care.

Cystic Fibrosis related diabetes (CFRD), a major factor of morbid-mortality in CF, is characterized by a preclinical phase of glucose intolerance particularly long reaching up to 10 years. At the physiopathology level, insulin secretion is determinant in the glucose tolerance abnormalities in CF. Indeed insulin secretion is dependent of the CFTR activity at the beta cell surface and inhibition of CFTR leads to a decrease in insulin secretion. Recently, the combination of the lumacaftor, a CFTR corrector, with Ivacaftor, a CFTR potentiator, was studied in patient with CF homozygous for the Phe508 del CFTR mutation patients and showed an improvement of the respiratory state in comparison with the placebo group. These data suggests that lumacaftor in combination with ivacaftor in targeting CFTR action may have an early impact on the insulin-secretion and consequently on the glucose tolerance.

Brain stem and posterior fossa measurements in spina bifida aperta fetuses to compare them with normal population. Additionally, Describe the difference between pre- and postoperative findings.

To describe the knowledge, expectations, and perception of women towards the mid-trimester ultrasound scan to detect fetal anomalies in a Mexican population.

The aim of this study is to clarify complications of Ethanolamine Oleate intralesional injections of maxillofacial venous formations in pediatric patients

Background: - Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions. Objective: - To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: - People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures: Medical and family history and physical examination, including body measurements and vital signs. Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal functions. Eye examination, including having a video taken of their eyes moving. Hearing evaluation. Speech and language assessment, including swallowing studies. Dental exam. Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. Medical photographs of the face and affected body parts may be taken. Other specialized tests or consultations, as indicated. Participants can choose to have a skin biopsy taken. A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.