View clinical trials related to Congenital Abnormalities.
Filter by:The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can also significantly shorten the time of examination, improve the diagnosis rate, guide the clinical treatments. So the ultimate goal is individualized or personalized therapy and promote prognosis.
Pulmonary arteriovenous malformations (PAVMs) are a rare vascular condition affecting the lungs. PAVMs lead to low blood oxygen levels, yet are very well tolerated by patients. This study will examine the exercise capacity of PAVM patients using formal cardiopulmonary exercise tests performed on a stationary bicycle, and whether this is affected by the presence of concurrent airflow obstruction, such as due to asthma.
Developmental dislocation of the hip is a common disease in children, and its incidence in China is about 9 ‰.The pathological changes of it is complex. The reluxation , subluxation and residual deformity and other complications are relatively common after treatment. The X-ray appears great acetabular index and wide medial gap , small central-edge angle. As there is no effective methods for treating such complications , investigators conducted this trial to find and prove optimal intervention time and treatment programs.
Our study will evaluate the use of topical and intravenous (IV) Tranexamic Acid (TXA) in spine surgery. The purpose of TXA is to prevent clotting during surgery to reduce blood loss. When used intravenously, it has been shown to safe, efficacious, and effective in reducing transfusion requirements and blood loss in spine surgeries. We want to evaluate the effect of using TXA topically and intravenously to see if it further reduces blood loss in children undergoing major surgery compared to IV TXA only
The purpose of this observational study is to ascertain the effects of cutaneous air cooling on vessel diameter within Capillary Malformations (CM).
The purpose of the study is to estimate the rate of risk factors for appearance of disease or fetal malformations in a population who turn to hospital "Hillel Yaffe" and examine whether there is a difference in the rate of early testing for diseases or birth defects in the fetus. Understanding the population and its risk factors, will allow specific reference to these risk factors to lowering them to eventually reduce the rate of congenital malformations in this population.
Immature myeloid cells (IMCs) that are generated in the bone marrow, and differentiate into mature granulocytes, macrophages and dendritic cells (DCs) in the steady state. Recently, it was demonstrated that the IMC population expands in malignancy, both in animal models and in humans. These cells were described as immunosuppressants but have also been shown to promote tumor angiogenesis. Accordingly, IMCs were also found to take part in the burn injury wound healing process and other pathologies that involve angiogenesis. It was shown in the investigators' laboratory, that a very similar population of IMCs populates the mouse and human placenta, and that these cells actively promote angiogenesis. Dendritic cells (DCs) that can differentiate from IMCs, are antigen presenting cells (APCs) that initiate and coordinate the innate and adaptive immune responses. DCs can take up a diverse array of antigens and present them to T cells as peptides bound to MHC products. These antigen-specific responses are critical for resistance to infection and tumors. Conversely, DCs have roles in autoimmunity, transplant rejection and immunological tolerance. In the reproductive system, DCs were shown to account for 5%-10% of all hematopoietic cells in the uterine decidua at the embryonic implantation site. They were shown to promote angiogenesis during early pregnancy, especially during implantation. Very little is known about their function in the placenta and in the latter part of pregnancy when significant angiogenesis takes part. The investigators' preliminary mouse experiments and human data, demonstrate a shift in IMC/DC populations with the development of the placenta. The investigators hypothesize that this population shift may contribute to the labor and delivery process. The investigators' aim is to understand the role of these myeloid cell populations during pregnancy, to characterize their phenotype and try to shed light on the cellular and molecular mechanisms of pregnancy complications, such as preeclampsia, pre-term labor, intrauterine growth restriction, etc.
The goal of this research study is to demonstrate that Cardiac Perfusion MRI with Vasomotor Stress may serve as a non-invasive and less risky imaging technique for detecting non-obstructive perfusion deficits and/or abnormalities in myocardial blood flow (MBF) in patients with endothelial dysfunction. This is a controlled study, which will enroll approximately 60 subjects (30 diabetics and 30 non-diabetics to serve as healthy controls), and will include male and non-pregnant females, between the ages 18-50 years. All eligible participants will sign an informed consent and will complete a Lifestyle Questionnaire. They will undergo blood work which includes: - 2-hour Oral Glucose Tolerance Test and Fasting Labs for Glucose, Insulin, C-Peptide, HbA1c, Creatinine, and Lipid Panel. - Urine Albumin to Creatinine ratio for microalbuminuria. - Serum inflammatory markers: E-selectin, homocysteine, ADMA, VCAM, IL-6, TNFalpha, hs-CRP and PAI-1. After blood work, all participants will undergo cardiac MR perfusion imaging procedure with Cold Pressor Test and Adenosine Stress Test.