Active clinical trials for "Congenital Abnormalities"

To identify genes involved in the pathogenesis of congenital heart disease, including atrial septal defects (ASDs), paramembranous ventricular septal defects (VSDs), and atrioventricular canal defects (AVCDs).

The purpose of this study is to better understand the genetic factors related to the Chiari I malformation. In people with this abnormality, the lower part of the skull is smaller than normal. As a result, the lowest part of the brain, called the cerebellar tonsils, protrudes out of the hole at the bottom of the skull into the spinal canal. This study will try to discover the location of the genes responsible for the malformation. Candidates for this study are: 1) Patients with Chiari I malformation who also have a family member with the abnormality or a family member with syringomyelia (a cyst in the spinal cord that is often associated with the Chiari I malformation). 2) Family members of patients with the Chiari I malformation. Participants will have a medical history and physical and neurologic examinations. They will undergo magnetic resonance imaging (MRI) of the brain and cervical (neck) spinal cord to measure the size of the head and determine the presence of the Chiari I malformation and syringomyelia. A small blood sample (about 2 tablespoons) will be drawn for DNA studies relating to the Chiari I malformation.

Congenital malformations correspond to defects in organ morphogenesis identifiable at birth or intrauterine life, affecting 2-3% of births. Inside of these malformations, Congenital Heart Disease corresponds, in particular, to structural defects of the heart or major blood vessels thereof may or may not be associated with other types of syndromes.The resolution is usually surgical. Also, these patients present a decrease in physical fitness, psychological imbalance, lower quality of life and risk significant morbidity and mortality from respiratory infections among other problems. This can have severe consequences for health in the medium and long term. The habits acquired during childhood and adolescence are determinant for the adult life, being relevant levels of activity and physical condition, especially in children with pathologies. In this way, it is vital to know from childhood parameters that indicate the baseline state of these patients according to the levels of physical activity, exercise capacity, nutritional status and quality of life. These will be key indicators to take into account in the future, to adapt rehabilitation plans that will reduce the effects of their condition. The objective of this protocol is To characterize the levels of Activity, and Physical Capacity of children with congenital heart disease regularly treated at the Cardiovascular Center of Dr. Luis Hospital Calvo Mackenna, compared to healthy children matched by age and sex.

In the stage of registration study, our purpose is to find out the safety range of activated coagulation time level in cerebral aneurysm and arteriovenous malformations with hybrid operation.

Evaluate whether a treatment plan based on CT angiography can accurately and precisely identify the target nidus as compared to standard cerebral arteriography fused to MRI.

The congenital malformation (CMF) include disturbance in normal process of organogenesis occurring before birth . The (CMF) are structural ,functional, or (biochemical Molecular) defect presenting at birth. The structural defect resulting from prenatal insult during period of embryogeneses. The neonate with congenital malformation have differences in physiology, anatomy, in response to stress. The (CMF) are important causes of infant disability , illness, deaths. (CMF) classified into mild, moderate, severe and lethal

Studies have shown that the risk of developing heart arrhythmias, is increased in patients receiving medication for Attention-deficit hyperactivity disorder (ADHD) and depression. The QT-interval on a electrocardiogram (ECG) is often used to assess the patients risk of developing heart arrhythmias. The QT-interval defines the hearts electrical resting period and a long interval is linked to an increased risk of developing heart arrhythmias. In this project the investigators wish to examine possible side-effects in patients receiving medication for ADHD and depression and their dynamic QT-interval changes, by analysing the ECG changes that occur during "Brisk Standing".

clinical examination alone is usually insufficient in assessment of knee meniscus and a more reliable diagnosis can be achieved by using the knee ultrasound , magnetic resonance imaging. magnetic resonance imaging is considered the most noninvasive diagnostic method of detecting lesions of the intra-articular reliable knee structures. However, there are recent reports concluding that ultrasound is a valid technique for diagnosing meniscal lesions, even though it is not part of the standard protocol for evaluating injuries to the intra-articular knee structures.

This prospective multicenter study will evaluate the efficacy of a real-time artificial intelligence system for detecting multiple ocular fundus lesions by ultra-widefield fundus imaging in real-world settings.

Prospective research in which patients who applied to UUTF Gynecology and Obstetrics ART center for the treatment of infertility (inability to conceive despite one year of unprotected sexual intercourse), who will undergo IVF due to PCOS and unexplained infertility