View clinical trials related to Congenital Abnormalities.
Filter by:The subjects will be recruited from July 1, 2014 until the participants enough. Interviewing for research purpose explication and informed consent will be collected before the study is executed. In the first 3 months, subjects of group A will use the mobile physical activity promotion tool (MT), receive professional personal counseling, and individualized reminding message (intervention) once a week. In the last 3 months, they will receive standard care (control) which is in support of behavioral and educational recommendations in diet control, increased physical activity, less smoking and drinking, deal with pressure, and regular health examination (based on the booklet of metabolic syndrome prevention which is edited by Health Promotion Administration, Ministry of Health and Welfare, Taiwan). Subjects of group B will begin with an initial 3 months control period of standard care only, and the intervention program will be conducted for last 3 months.
To assess safety and efficacy of ONYX treatment for cAVM:
this non-randomized prospective study of 2 longitudinal cohorts (surgical treatment group or orthopedic treatment group), will evaluate the hemodynamic repercussions of the correction (surgical and non surgical) of pectus excavatum-type thoracic deformities by measuring the cardiac output difference before and after intervention, measured by transthoracic impedancemetry, during an exercise stress test
The purpose of this study is to examine the differences in perceived health, psychosocial functioning, behavioral outcomes and quality of life of adults with congenital heart disease who are living in different areas of the world, and how these differences can be understood (e.g., differences in sense of coherence or illness perceptions).
Context: Chest wall deformities in children are relatively common. One such deformity, known as Pectus Excavatum (PE), involves a concavity of the chest and is the most frequent of these abnormalities - present in approximately 1 out of every 400-1000 births. This deformity is often a cosmetic problem for affected individuals. When severe, PE can also be associated with cardiopulmonary compromise. Treatment of PE involves surgical correction. There are several potential methods for correcting PE. In the past the most common repair involved an open procedure which involves excision and reshaping of the ribcage. More recently a minimally invasive procedure has been adopted involving the placement of a stainless steel or titanium bar underneath the sternum to reshape the chest wall. This procedure, commonly known as the Nuss procedure, carries with it significant post-operative pain management problems. In fact, the pain issues after Nuss procedure may be more significant than after open repair. The quality of postoperative pain control in these cases has been shown to affect several measurable objective outcomes during hospitalization including capacity for deep breathing, early mobilization, ambulation, and length of hospital stay. Epidural analgesia (EA) has been one of the standard methods for managing pain in the early postoperative period after PE repair. Unfortunately severe pain may persist after the removal of an epidural catheter resulting in a difficult "transition" period just prior to discharge from the hospital. In addition reports of neurological injury after epidural analgesia for Nuss procedures have appeared. In light of these issues, many institutions have opted for alternative methods of pain control including peripheral nerve blocks, patient controlled analgesia, and wound catheters. There remains significant debate as to which pain control methodology is best. There is little consistent data available on pain control or outcomes that occur after EA is stopped. Moreover there is reluctance in any one institution to trial or randomize patients to a variety of treatment modalities. For all of these reasons, investigators are proposing participation in a multi-institutional data sharing project concerning the repair of EA in which participating centers will collaborate to better understand the outcomes of perioperative care for patients undergoing correction of this problem.
This is a clinical trial/study for patients diagnosed with brain arteriovenous malformation (AVM). An AVM is an abnormal connection between the arteries and veins of the brain. Patients considered for this trial are 21 years and younger with AVM suitable for embolization treatment (a procedure used to block the abnormal connection between the arteries and veins of the brain) with Onyx Liquid Embolic System (Onyx LES) or TruFill n-Butyl Cyanoacrylate (n-BCA) Liquid Embolic System (both are liquid substances used in the embolization procedure to block the abnormal connection).
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.
The purpose of this study is to evaluate two dosing protocols for tranexamic acid (TXA), an anti-fibrinolytic used to decrease blood loss in adult patients undergoing complex, reconstructive spinal fusion surgeries.
As the population continues to age, the prevalence of spinal deformity surgery for older patients is increasing. Questions regarding the suitability of these patients to undergo large spinal procedures and whether the outcomes merit the risks involved are not well known.
Anorectal malformations, occurring approximately 1 in 5000 live births, mainly involve the distal anus and rectum, but also sometimes the urinary and genital tracts. Defects range from the minor and easily treated with an excellent functional prognosis, to those that are complex and often associated with a poor functional prognosis. Despite the better knowledge of the anatomy and physiology and the improvement of surgical management after birth, fecal and urinary incontinence can occur, due mainly to deficient nerve supply. The quality of life of such patients is largely unknown in this country. The aim of the investigators study is to propose specific and generic questionnaires to the patients registered in the national database, correlated to their anatomical and functional status. A better understanding of such correlations should allow improvements in their medical and social management.