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 tests an intervention to help children with sickle cell disease ages 0-7 years and their families. The intervention is available on a smartphone or tablet, and includes an app for keeping track of symptoms and text messaging with a health care provider. Participants are needed to briefly review the intervention and provide feedback.
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.
The Hernia in Premies (HIP) Trial is a multi-site randomized clinical trial that is comparing two accepted treatment choices, surgery before or after neonatal intensive care unit (NICU) discharge, for inguinal hernia (IH) repair in premature infants. The reason we are doing this study is that surgeons and neonatologists currently do not know the best time to perform the hernia repair. Some providers recommend having the hernia fixed before discharge from the neonatal intensive care unit (NICU) and some believe waiting until after NICU discharge is better. Both treatments are standard options for IH repair in premature infants. Also, all babies that have IH repair receive anesthesia. We also do not know if the age of the child receiving anesthesia affects neurodevelopment. We are comparing the timing of anesthesia exposure between the two treatments (IH repair before or after NICU discharge) to help answer these questions.
By volunteering to take part in the HIP Trial, your child will be randomly assigned to have the operation before or after NICU discharge. This means that the timing of the repair operation will be determined by chance, like flipping a coin, and he/she has an equal chance of being treated before or after NICU discharge. We will be collecting information about your baby and the treatment that he or she receives, and how your baby recovers before and after the surgery. We will also collect information about your baby from clinic notes and results from your baby?s routine 2 year follow-up neurodevelopmental testing, where your child will be asked questions that measure cognitive, language, social and motor development. We will stop collecting information about your baby and your participation will end when your child is 2 years old. There are no extra medical tests or blood work being done for research purposes in the HIP trial.
The goal of this study is to compare the patient?s response using noninvasive ventilator modes of respiratory support only to standard treatment regimen. The standard treatment regimen includes all modes of respiratory support; High Flow Nasal Cannula (HFNC), Blow by O2 support, and O2 by nasal cannula or prong and standard medications for treatment of respiratory distress which include bronchodilators; albuterol, racemic epinephrine, hypertonic normal saline with and without ipratropium bromide, chest physical therapy and steroids. The fraction of oxygen (FiO2) will be adjusted to keep oxyhemoglobin saturation exceeds 92%. The study will evaluate the length of stay in the PICU and time to resolution of respiratory distress using a standardized scoring tool (Modified Pulmonary Index Score).
There are three operations that can be offered to children with idiopathic constipation refractory to medical management:
1. insertion of a tube into the cecum or the appendix for antegrade enemas.
2. removal of the sigmoid colon (if it is redundant).
3. removal of the rectum and sigmoid colon, if they are grossly dilated.
The later two options are difficult operations that carry the risk of an anastomotic leak that may be life threatening. Is it justified to assume this risk in treating a benign disease?
The purpose of this study is to understand factors contributing to managing emotions, behavior problems, and substance use among girls. Middle school adolescent girls will be asked about their thoughts and feelings about themselves and their ethnic group, perceptions, and discrimination. They will also report on their behavior and substance use. Their reactions to recent incidents of unfair treatment or disciplinary action will also be assessed.
This research study is for children between 6 years and 18 years of age who have been diagnosed with hypertension, or high blood pressure. Hypertension or high blood pressure is when someone?s blood vessels, called arteries, tighten too much. The study lasts 12 months and could involve up to 17 study visits. Compensation is available.
The main purpose of this study is to find out if the study drug, Azilsartan medoxomil (also called AZM, TAK-491, or AR14) is effective in controlling blood pressure in children 6 to less than 18 years of age and to find out if it is safe and well tolerated in this age group compared to placebo. The safety and effectiveness of AZM in children less than 18 years of age have not yet been established and currently are under investigation in the age group 1 to 17 years. This means it does not currently have FDA approval for use in children and adolescents.
Another purpose of the study is to compare a drug called losartan potassium (Cozaar) to AZM. Cozaar is an FDA approved drug that is used to treat high blood pressure in adults and children
The purpose of this project is to study validity 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. Thirty children, between the ages of 3-21 years, with physician-documented severe brain damage and considered medically stable are needed for this study. Recruitment flyers will be disseminated at iHope (school serving children with severe disabilities) in NY, NY, 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 Pediatric SMART validity. Once validity has been substantiated for the Pediatric SMART by means of further 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.
Adult and Pediatric patients with glomerular disease:
Patients of all ages are needed to participate in a research study to investigate glomerular disease and create a worldwide database to help in the research and future treatment of this disease. To join this study, you must have a type of glomerular disease, have had a first kidney biopsy within the last 5 years, not be on dialysis, or not have had a kidney transplant.
The study is projected to last 4 years, and all study procedures will be done at regular clinic visits (between 1 and 3 yearly). Study procedures include filling out questionnaires and a blood draw at each visit.
Compensation is available for study participation.