This study is being offerred to patients that have acute myelogenous leukemia (AML) which is a cancer of the blood and these patients are going to have a stem cell transplant. This study is looking to determine how accurate two different laboratory tests are at detecting residual, or small numbers of cancer cells in the body before and after stem cell transplant, as well as whether or not results of these two tests show how well a recipient might do after transplant.
Genetic Testing of neonates undergoing surgery for single ventricle cardiac defects (SVCD) and other congenital cardiac defects. DNA testing with an aim to identifying genetic factors that aid survival and recovery in SCD patients.
Genetic contribution to patient outcomes: Over the past two decades, there has been dramatic improvement in the survival and functional outcome of patients with all forms of congenital cardiac defects. Yet, there exists significant variability in outcomes that becomes more pronounced as the level of surgical intervention increases and the exposure to adverse hemodynamic conditions becomes more prolonged and more profound. This is particularly noticeable in the SCD patient group where there are continued high levels of mortality and levels of disability that can be quite severe. While these poor outcomes can on occasion be attributed to technical difficulties, complex cardiac anatomy or patient co-morbidities, more commonly they occur in patients that do not superficially appear to be any different than those that will ultimately have excellent outcomes. What is becoming increasingly apparent is that every patient differs in their ability to tolerate the challenges presented by the peri-operative environment. Therefore, significant improvements in outcomes may depend on identification of the genetic factors that place some patients at greater risk and designing treatment protocols to minimize those risks.
This study if for patients that have a blood disease and it's been determined that the best option for treating that blood disease is a cord blood transplant. Cord blood (CB) is blood that is taken from the umbilical cord and placenta of healthy newborn babies after childbirth. The cord blood collected from a newborn baby is called a cord blood unit. The United States Food and Drug Administration (FDA) considers cord blood to be a biological drug. These are considered “investigational” products. This study will evaluate the safety of administration of the investigational cord blood units by carefully documenting all infusion-related problems.
We will conduct a screening and direct assessment study in the general population in an area already undergoing monitoring by ADDM. Specifically, all 8-year-olds in a three county region of South Carolina (n=8,000) will be screened for ASD, and those found to be at risk for ASD will be invited to participate in an in-depth diagnostic assessment. Evidenced-based strategies will be implemented to maximize participation in both the screening and diagnostic phases of the study to improve the accuracy of the findings. ASD prevalence estimates will be calculated using the number of children aged 8 years residing in the study area as the denominator, and the number of children identified as cases as the numerator, with adjustments made for missing data from nonparticipants. Prevalence estimates will be provided using both traditional ADDM and SUCCESS methods. Factors contributing to
differences in ASD prevalence estimates by methodology (e.g. sex, race/ethnicity, SES, previous diagnoses, behaviors, degree of impairment, co-morbidities) will be examined. Additionally we will compare prevalence using the DSM-Iv and DSM-5 criteria.
Power wheelchairs are defined as ‘Wheelchairs powered by electricity that provide mobility and body support for individuals with limited ability to walk’ (Shoemaker et al., 2010). For the purposes of this study, the term power mobility is any battery powered equipment used for mobility by children with disabilities. This can include powered ride-on-toys (e.g. Boss car, Cooper car), powered scooter-boards and powered standing devices (e.g. Gobot). This study seeks to expand on the new literature being published on the use of commercially available powered ride-on-toys to assist with the early mobility of children born with movement disorders. Children with neuromuscular impairments have significantly decreased early mobility which greatly affects their opportunities to explore their physical and social environment (Tefft, Guerette, & Furumasu, 1999; Uchiyama, Anderson, & Campos, 2008). The commercially available ride-on-toys could be used in the clinic, home, community, or school settings to improve independent mobility and are a low cost alternative to other mobility devices (Huang & Galloway, 2012). In addition, these devices provide a novel therapeutic tool to examine and/or treat body function level impairments such as cause-effect learning and head/upper extremity/trunk/lower extremity strength and control (Ragonesi & Galloway, 2012). The utilization of early power mobility allows for important early exploration and learning and may have tremendous effect on later perceptual, cognitive, social, and quality of life outcomes for children with movement disorders.
The goal of this study is to better understand single ventricle circulation after its final palliation, the Fontan procedure. Each specific aim of the project directly affects current knowledge and/or aids future research in this population. In regards to Aim1, a better understanding the impaired responses to stress in single ventricle circulation will help direct future research on ways to improve quality of life as well as help direct medical and surgical therapies in this population. In regards to Aim 2, the mechanism that leads to improved exercise capacity with PDE5 inhibition will be elucidated. These three aims all compliment the overall goal of understanding the mechanisms that lead to heart failure in this high risk population.
This study is for patients 21 years and younger with a brain tumor that has not responded to treatment or has come back after treatment. The purpose of this study is to find out how safe and effective treatment with high dose temozolomide, thiotepa and carboplatin with stem cell rescue followed by 13-cisretinoic acid has on children and adolescents with recurrent/refractory brain tumors. Before study treatment, patients will receive chemotherapy to decrease the size of the tumor. During this chemotherapy, patients will have their stem cells collected. After collection, the stem cells are frozen and stored until they are needed after the high dose chemotherapy (temozolmide, thiotepa and carboplatin). Patients will receive the 13-cis-retinoic acid 6 to 10 weeks after stem cell rescue. It is given for 14 days followed by a 14 day rest period. This cycle is given 6 times for a total of 6 months of treatment. Patients will be treated on this study for about 7 to 8 months.
Comprehensive assessments of obese 4 to 21 year olds at no charge to participants; compensation is available.
Our research study permits obese children and adolescents to get free state-of-the-art evaluations through our Clinical and Translational Research Center. Nutrition assessments, fasting labs, body composition scans, and cardiac echos will be provided to participants at no charge.