Active clinical trials for "Congenital Abnormalities"

Background: Severe aplastic anemia (SAA) is a form of bone marrow failure. It usually results from a cytotoxic T cell attack on the marrow stem cell. Two treatments can be used for SAA. One is allogeneic hematopoietic stem cell transplant (HSCT). The other is immunosuppressive treatment (IST). In most cases, HSCT or IST works. But for some people, clonal evolution occurs after IST. One of the most common forms of clonal evolution is chromosome 7 abnormalities. These have a poor prognosis. HSCT can be used to treat them. Researchers do not know why clonal evolution happens. They want to look at data from past studies to learn more. Objective: To compare the data of people with SAA who developed chromosome 7 abnormalities between those who ultimately received HSCT versus those who received chemotherapy alone or supportive care. Eligibility: Adults and children with SAA who were enrolled on NHLBI protocol 12-H-0150, 06-H-0034, 03-H-0249, 03-H-0193, 00-H-0032, or 90-H-0146 Design: This study uses data from past studies. The participants in those studies have allowed their data to be used in future research. Researchers will review participants medical records. They will collect clinical data, such as notes, test results, and imaging scans. They will also collect the research data gathered as part of the original study. Researchers will enter the data into an in-house database. It is password protected. All data will be kept in secure network drives or in sites that comply with NIH security rules. Other studies may be added in the future.

In this observational follow-up study, patients with type III-IV head and face soft tissue deformities/defects following reconstructive surgeries will be asked to fill out 3 questionnaires, either through phone calls or video calls, in order to evaluate the post-operative outcomes such as morphological and functional recovery, quality of life and patients' return to the community.

Ultrasound scans during first trimester are more difficult than routine mid-trimester ultrasound scans. Practice guidelines for first trimester fetal ultrasound scans have been provided by the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) since 2013. Using this guidelines, different levels of proficiency operators might have equal ability to complete first trimester ultrasound scans.

Prospective, monocentric, single arm, observational PMCF - Study on the Performance and Safety of Double-Shank Titanium Ligation Clip in Urology (Prostatectomy and Nephrectomy)

Gestational diabetes is the development of diabetes during pregnancy. Left untreated, gestational diabetes and preeclampsia can lead to serious -- or even fatal -- complications for both mother and child. Some evidence suggesting omega-3 fatty acids might help protect women from two serious pregnancy complications -- gestational diabetes and preeclampsia. Omega-3 fatty acids, in particular Docosahexaenoic acid (DHA), help a pregnant woman give her developing baby every advantage in life starting in-utero. Recent studies suggested that the biologic processes underlying the observed associations may involve epigenetic changes, specifically DNA methylation. In this study the investigators aimed to examine the effect of fish oil supplementation in women with gestational diabetes mellitus on newborn outcomes and insulin like growth factor 1 DNA methylation.

Assess Fetal Mortality and Malformations in Women treated with antihypertensive medication during preganancy. Mother - Child pairs will be analysed in a cohort selected from the UK in the CPRD database. Years covered are 1997 to 2014. Aim is to assess the risk of Antihypertensive treatment in women.

Following thoracic surgery, pleural effusion in pleural cavity requires post-operative drainage. Pleural effusion is responsible for pulmonary congestion, atelectasis, hypoventilation, lower efficacy of diaphragmatic curse, lower pulmonary reexpansion and vicious attitude. These complications could be avoided by respiratory physiotherapy. Forced expiration technic in ipsilateral decubitus is one of these technics but has never been proved better than other technics regarding its efficiency. The aim of the study is to compare the impact of such a technic on post operative thoracic drainage after pulmonary, pleural or mediastinal pediatric surgery.

This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. This sub-project is investigating benefits and harms of providing WES diagnostic and different types of incidental findings to adult patients and parents of pediatric patients who undergo WES because they have symptoms suggesting genetic disease.

Previous studies have examined the usefulness of pulse oximetry or oxygen saturation to screen for left-sided cardiac lesions. These studies have shown that the occurrence of critical congenital cardiac malformations among asymptomatic newborns is high; the technique of pulse oximetry is reliable for detection of ductal dependant left-sided lesions, simple to operate(requires little time and can be done in the newborn nursery) and is cost effective; there is effective follow-up test (heart ultrasound) and available interventions have an effect on outcome for diagnosed newborns. The importance of this research project is to examine the overall helpfulness of measuring oximetry in newborn infants using somatic oximetry, as well ast to prepare for a population based study in the state of Florida.

The purpose of this study is to look at whether the use of a simple technique before surgery, which involves inflating a blood pressure cuff on the infant's leg, can improve development of language, motor and thinking skills at 12 months of age. Some research has found that a brief shortage of blood supply to an organ (such as a leg) at level that does not cause harm may help the body to tolerate a longer and more severe shortage of blood (for example, during surgery).