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.
The purpose of this project is to develop and test preliminary reliability of a newly developed pediatric tool, the Pediatric Sensory Modality Assessment and Rehabilitation Techniques (SMART), which will measure cognitive awareness for children with severe brain damage. Five children, between the ages of 3-12 years, with physician-documented severe brain damage and considered medically stable are needed for this study. Recruitment flyers will be disseminated at MUSC and the greater Charleston area community to recruit parents/legal guardians of children with severe brain damage. Once parental/legal guardian and physician consents are in place, participants will be evaluated using the Pediatric SMART 5 times within 10 days. The Pediatric SMART is made up of 5 domains that are olfactory, visual, auditory and vestibular, gustatory, and tactile. Test administration requires approximately 1 hour and can be completed in settings convenient for parents/legal guardians. The potential benefit to study participants is that the findings from the Pediatric SMART may identify sensory and motor strengths of participants. Knowledge of these strengths may enhance current rehabilitation and treatment plans, which may lead to functional improvements; although, this cannot be guaranteed. It is a goal of this study to evaluate the preliminary Pediatric SMART reliability. Once reliability has been substantiated for the Pediatric SMART in further and future study, future children with severe brain injury, being evaluated with the Pediatric SMART, may have rehabilitation and treatments opportunities that are better informed, leading to greater improvement in functional and participatory outcomes.
The most commonly used drugs in infants with complicated intra-abdominal infections are not labeled for use in this population because safety and efficacy data are lacking. The proposed study will provide the safety information required for labeling. In addition, the PK of the study drugs has been or will be characterized in premature infants under an IND mechanism.
To determine whether a collaborative learning-derived Clinical Practice guideline (CPG) for early postoperative ventilation and extubation results in a higher proportion of subjects extubated early after infant heart surgery. This will be tested in 5 Pediatric Heart Network (PHN) sites. A comparison will be made to 5 other PHN sites who will not undergo specific training in the CPG. Times until extubation after 2 surgeries (tetraoligy of Fallot repair and repair of coarctation of aorta) will be compared between the 5 sites with active CPG learning vs. the 5 control sites. MUSC is being asked to be a control site.
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.
On March 23, 2010, President Barack Obama of the United States of America, signed into law the Patient Protection and Affordable Care Act commonly referred to as health reform. This bill calls immediate attention to better coordinated care between providers of health care and ancillary services. While the health reform law is new, the concept of care coordination in the practical sense is familiar to several health and human service disciplines, such as behavioral healthcare, developmental disability systems of care, medical home models, disease management programs, case management programs, long term care Medicaid waivers, and large healthcare organizations. The aim of this study is to understand what consumers and families expect from care coordination programs and services, and how programs should be designed to ensure the most benefit
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.
Selection of the correct drug dose is the most important decision in assuring optimal pharmacotherapy. Defining an optimal regimen requires a clear understanding of the drug’s PK, pharmacodynamics (PD), and for methadone, pharmacogenomic profiles. Understanding these characteristics for drugs used in children is imperative to determine optimal dose regimens across the pediatric age continuum.
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.