Active clinical trials for "Congenital Abnormalities"

US study to estimate the prevalence at birth of major birth defects (ie, those that cause significant functional or cosmetic impairment, require surgery, or are life-limiting) in children born to mothers who have received Nplate® therapy at any time during the pregnancy.

The purpose of this study is to determine if the use of sirolimus in the treatment of children and young adults with complicated vascular anomalies will prove to be safe and provide objective response resulting in improved clinical status and quality of life. Funding Source - FDA OOPD (Food and Drug Administration - Office of Orphan Products Development)

Background: An inadequate filtering system at the Mayak nuclear weapons production facility in Ozyorsk, Russia, allowed the release of various radioactive materials, particularly I-131 (radioactive iodine) into the city's atmosphere during the 1950s. A recent pilot study found a higher prevalence of thyroid nodules in Ozyorsk residents who were exposed to the radiation in childhood during years of heavy atmospheric emissions (1952-1953) than in children exposed in later years (between 1967 and 1991) when there were almost no radioactive releases. Understanding the role of I-131 in the development of thyroid disease is important because I-131 is commonly used in medicine (e.g., to treat hyperthyroidism and thyroid cancer and to diagnose thyroid disease), and it is the major source of thyroid gland exposure in fallout from atomic bomb explosions, nuclear power plant accidents, and atmospheric venting from plutonium manufacturing facilities. Objectives: -To expand the pilot study to include 350 Ozyorsk residents who were exposed in childhood to moderate levels of radiation in order to evaluate thyroid disease in relation to the dose of I-131 exposure. Eligibility: -People who were born and living in Ozyorsk, Russia between 1954 and 1955, the period of mild radioactive releases from the Mayak nuclear weapons plant. Design: Participants' thyroid gland and structure are examined with an ultrasound examination and blood tests. Participants with a possible thyroid gland disorder are referred to specialists for additional diagnostic procedures.

Structural fat grafting is a form of tissue transfer where the autologous fat is harvested and subsequently transferred to a different region of the body at the same setting. It is an excellent technique for filling soft tissue and contour defects. Fat has the benefit of being abundantly available and easy to harvest. Further more, it is cheap and autogenous and thus lacks the side effects of synthetic fillers or implants. Autogenous fat transfer is a relatively common procedure performed by plastic and reconstructive surgeons. The goal of fat grafting is to provide the patient with a predictable, long lasting autogenous soft tissue augmentation. Autogenous fat transfer has been used extensively as an adjunct to facial rejuvenation. As well it has been applied to body contouring and augmentation of the hips, trochanteric areas, thighs and buttocks, back, torso and breast. The transfer of autologous fat dates back to 1890s and more specifically as injectable grafts since the 1920s. However, over the past 20 years the popularity of structural fat grafting has increased as a contouring modality. Fat transfer to the breast, popularized by Coleman, has been performed internationally since the 1990s. Despite the duration, the literature lacks accurate outcomes data on fat transfer to the breast and questions regarding the viability of adipocytes after the transfer exist. Sources from various publications show cell viability of up to 100% however studies of long term clinical outcomes quote rates of 10% to 80%.

In this study a technique called 'lipomodelling' is being studied to find out if it is beneficial around the stoma site in patients who have difficulty with securing their stoma bags which may lead to leakage and frequent soiling which we believe reduces quality of life. Patients with colostomy (stoma formed by bringing large bowel to the surface of the abdomen), ileostomy (small bowel) or a urostomy (urinary tract) will be recruited into this study. Lipomodelling is a technique that is commonly used elsewhere in the body but to our knowledge has not been used for this purpose. This study is a pilot study that may lead to further research in this area. Lipomodelling means taking some of your own fat that lies just beneath the surface of the skin and transferring it to another part of your body. The fat is removed by suction (liposuction), normally from your thighs or abdomen. In order to use the most important part of the fat, it is then put into a machine called a centrifuge. This spins the fat so that it splits up into three different sections. The most important section is then separated and injected in very small quantities into the required areas around your stoma. It is thought to have cells that encourage rejuvenation as well as helping to fill the area injected. Peri-stomal means the area around the stoma itself, this includes skin and underlying tissue, which will be fat and scar tissue. After any operation there will be scarring that takes some time to fully develop. Usually after a year the scar tissue will be fully formed. The scar tissue may cause the skin around the stoma to be irregular. This is described as contouring of the skin. The aim of this study is to see if lipomodelling can improve your quality of life by reducing the frequency of changing your stoma bag, reduce leakage and the need for extra-stomal appliances to try and help the stoma bag fit to your body securely.

Evaluate Clinical Performance of Vanguard Knee with E1 Bearing in Korean Patient Population

The purpose of this project is to validate a quick, easy-to-use and administer smartphone hearing-in-noise test. The Hearing-in-Noise Test (HINT) measures an individual's ability to hear speech in quiet and in noise. HINTs are traditionally done testing both ears together as binaural hearing ability is key in noisy settings and everyday, functional hearing. The app (called HearMe) can potentially be used to easily and quickly collect hearing-in-noise and speech-in-noise measurements. The smartphone app developed is a hearing-in-noise test that presents the subject with a series of stimuli consisting of a spoken three-digit sequence presented at a varying hearing-to-noise ratio. For each stimulus presentation, the user tap the three-digit sequence. The duration of the app is less than 3 minutes. For this project the investigators will test at least 50 subjects with hearing loss and 50 control subjects between the ages of 18-80. The subjects will be invited to take the app. The approach for this pilot study is to characterize hearing-in-noise thresholds (also referred to as a speech-reception threshold) as measured by the app in both subject groups, and relate it to the phenotype of each group as a preliminary evaluation of the app as well as a preliminary validation against their routinely collected measurements of hearing function (pure-tone audiometry thresholds). The study will assess the validity of the test construct in measuring hearing-in-noise thresholds, and serve as a foundation for further iterative designs of the app and future validation and characterization studies. This study seeks to validate a developed smartphone HINT on an initial cohort of patients and controls. It is anticipated that patients with hearing loss will display higher signal-to-noise ratio thresholds (as measured by the iPhone app) compared to controls.

The aim of this study is to assess the effect of new tumescent solution for liposuction containing N-Acetylcysteine (Pietruski solution) on the autologous fat graft volumetric retention used for healthy women breast asymmetry correction by means of lipofilling.

The purpose of our study is to demonstrate by blood samples in situ in the vascular lesion (performed during any cerebral catheterization for an embolization of arteriovenous malformation) the existence of angiogenic growth factors and inflammatory factors that would confirm the decompensation of venous ischemia.

Gastrointestinal vascular malformation (GIVM), which is an important cause of acute or chronic gastrointestinal bleeding, consequently is in dire of effective treatment. The investigators' previous study first confirmed thalidomide treatment of GIVM bleeding was safe and effective. This trial intends to investigate the efficiency of endoscopic intervention to the hemorrhage due to GIVM. What more, the research tends to suggest standardizing clinical paths for small bowel bleeding due to GIVM.