View clinical trials related to Congenital Disorders.
Filter by:Magnetic resonance imaging (MRI) is increasingly an important tool for diagnosis and management of cardiac diseases in children. One of the uses of MRI is tissue characterisation, in which the signal characteristics of the cardiac muscle (myocardium) can be determined with special techniques, known as parametric mapping. There is increasing evidence that parametric mapping may be able to identify regions of scarring in the myocardium, or detection of oedema/inflammation in the setting. This in turn can help predict disease course and add value to the management of patients. There is also evidence that other structures that are visualised in parametric mapping aside from the heart (e.g. liver and spleen) can also help improve diagnostic accuracy and guide management. Currently the majority of studies describing the use of parametric mapping is focused on adults, with limited data on its use in children. The parametric mapping values can also differ amongst different machines, so calibration with normal subjects are also required.
This is an open-label, non-randomized crossover design feasibility trial comparing oral hydrocortisone treatment with interval bolus delivery (pulsatile) of subcutaneous hydrocortisone via infusion pump in children with congenital adrenal hyperplasia. Eight children, ages 4-18 yrs, will have 24-hr pharmacokinetic and pharmacodynamic profiles of cortisol, 17-hydroxyprogesterone and androstenedione concentrations while on oral hydrocortisone therapy (admission 1), during an initial trial of the subcutaneous hydrocortisone pump (admission 2), and after 6 weeks of subcutaneous hydrocortisone pump treatment (admission 3). An integrated pharmacokinetic and pharmacodynamic model will be used to determine cortisol, 17-hydroxyprogesterone and androstenedione parameters to compare the duration of time subjects have these concentrations outside acceptable ranges. Funding Source - FDA OOPD
Vitamin D deficiency is common among otherwise healthy pregnant women and may have consequences for them as well as the early development and long-term health of their children. However, the importance of maternal vitamin D status has not been widely studied. The present study is divided into a societal experiment (1) and a case-cohort study (2): 1. The present study includes an in-depth examination of the influence of exposure to vitamin D early in life and during critical periods of growth for development of type 1 diabetes (T1D), type 2 diabetes, gestational diabetes, pre-eclampsia, obesity, asthma, arthritis, cancer, mental and cognitive disorders, congenital disorders, dental caries and bone fractures during child- and adulthood. The study is based on the fact that mandatory fortification of margarine with vitamin D, which initiated in 1937, was terminated in 1985. Apart from determining the influences of exposure prior to conception and during pre- and postnatal life, the investigators examined the importance of vitamin D exposure during specific seasons and trimesters, by comparing disease incidence among individuals born before and after the fortification. 2. Additionally, a validated method was used to determine neonatal vitamin D status using stored dried blood spots (DBS) from individuals who develop the aforementioned disease entities as adults and their time and gender-matched controls. Unparalleled, the study will help determine the effects of vitamin D exposure during critical periods in life. There are a sufficient number of individuals to verify any effects during different gestation phases and seasons of the year. The results, which will change our current understanding of the significance of vitamin D, will enable new research in related fields, including interventional research designed to assess supplementation needs for different subgroups of pregnant women. Also, other health outcomes can subsequently be studied to generate multiple new interdisciplinary health research opportunities involving vitamin D.
Impact of percutaneous internal ring ligation during laparoscopic orchiopexy in decreasing incidence of congenital hernia
The purpose of this study is to characterise in detail cardiac, cerebral and renal structure, function and perfusion in patients on haemodialysis (HD) using magnetic imaging techniques. The effects of a standard prescription haemodialysis (dialysate temperature 37 C) will be compared to a thermocontrolled (or isothermic) haemodialysis prescription to ascertain if thermocontrolled HD provides a protective effect on organ perfusion and circulatory stress when compared to conventional haemodialysis. The BTM (blood temperature monitor, Fresenius) offers a way to overcome this to regulate thermal balance during dialysis and achieve a neutral thermal balance (isothermic) over the dialysis session. Other dialysis parameters will be standardised between treatment arms using blood volume monitoring (BVM) and clinical assessments.
Long QT syndrome (LQTS)is a cardiac disorder that may lead to ventricular arrythmias and culminate in syncope and/or possible death. Recently, researchers have developed a way of discovering patients with LQTS by using low doses of epinephrine by a continuous, intravenous infusion in adults. Epinephrine, or adrenaline, is produced by our bodies in times of stress. By producing adrenaline, your body allows itself to adapt to its stressful environment and take appropriate actions (i.e. fight or flight response). By simulating this response with very small amounts of epinephrine, researchers have shown prolongation of the QT interval does not occur in normal healthy adults. However, adults with confirmed LQTS Type 1 (LQTS-1) will prolong their QT interval when given low dose epinephrine. Therefore, this test can act as a safe means of identifying adults with LQTS-1 who do not have prolonged QT intervals on their resting EKGs. However, LQTS is not just a disease of adults, it affects children as well. Currently the standard of care is to obtain resting EKGs on our pediatric patients which can miss those patients with concealed LQTS. Those patients, who are old enough, can undergo exercise testing. Yet this leaves young children unable to run on a treadmill without a diagnostic test. Hypothesis: The low-dose epinephrine infusion stress test does not cause prolongation of the QT interval in an electrophysiologically normal healthy pediatric population.
Brain injury occurs in one-quarter to one-half of congenital heart defect infants during the perioperative period. A blood test using a biomarker to diagnose brain injury would be important. Postoperative cerebral ischemia may be decreased by inotropic support, ventilation, medical management aimed at increasing oxygen delivery to the brain. Currently there are no FDA approved blood tests to assess brain ischemia in infants undergoing cardiac surgery. Specific Aim 1: We will prospectively study 10 neonates (< 30 days of age) undergoing cardiac surgery utilizing cardiopulmonary bypass for arterial switch operation or Norwood operation to determine the specificity and sensitivity of a blood test for brain injury. This aim will be accomplished by analyzing blood samples for S-100 and NSE drawn prior to surgery, once each day following cardiac surgery as long as the patient remains in the intensive care unit (maximum 5 days)and at the time of postoperative brain magnetic resonance imaging. The S-100B and NSE values will then be correlated with brain magnetic resonance imaging studies before cardiac surgery and at following cardiac surgery. Hypothesis: We expect the concentration of S-100B and NSE will be significantly higher in the blood of neonates with congenital heart disease who have documented brain injury on brain magnetic resonance imaging (MRI). Furthermore, we predict that the blood levels of S-100B and NSE may correlate to clinical outcome (time to extubation, hospital discharge, neurodevelopmental outcome at 6 months of age). Specific Aim 2: We will prospectively study these neonates at 6 months following cardiac surgery to determine a correlation between neurodevelopment and concentration of S-100B and NSE. To achieve this specific aim, a blood sample for S-100B and NSE and neurodevelopmental testing will be done at 6 months following cardiac surgery. Hypothesis: We expect neonates with elevated S-100B and NSE and abnormal brain magnetic resonance imaging documented in specific aim 1 to have a significant decline in neurodevelopment at 6 months after cardiac surgery. Long-term: The long-term goal of this research is to diagnose brain ischemia in infants using a biomarker blood test.
Magnetic Resonance Imaging (MRI) is a non-invasive test that can look at the heart without using radiation. An MRI will allow the doctors to look at the heart in order to assess how well the ventricle is pumping, the amount of blood that it is pumping in addition to how much it is stretching. An engineer at Georgia Tech has developed a new way of looking at an MRI. It is believed that this new way of looking at an MRI may be better able to tell us when to replace the valve in these children. If this new process works, not only can we apply it now but we will be able to look at previously performed MRIs and gather more information about these children and their heart function in order to help these and other children in the future. We are planning on enrolling 30 subjects in this study. Some of the subjects will be enrolled and have their MRI strictly for the purpose of this study. Some of the subjects will be already scheduled for a routine MRI of their heart and we will ask them if we can do extra images for the study while they are already here.
Many children undergoing surgery for congenital heart disease have had prior operations. Re-operative sternotomy carries with it the risk of cardiac injury and the need for emergent peripheral cannulation. Our first aim is to demonstrate that peripheral arterial cannulation may be lifesaving in cases of complicated sternal re-entry in children and that angio-catheters can be utilized when vessels are too small for standard cannulas. Our secondary aim is to present a case report of successful femoral cannulation in a 5 kg child.
This is a retrospective review of charts and echocardiograms of our patients with Total Anomalous Pulmonary Venous Connection (TAPVC). The Children's Surgical and non-invasive Echo databases will be used to determine all TAPVC patients. Children's Healthcare of Atlanta and Sibley Heart Center Cardiology charts and echocardiograms of the TAPVC patients between January 1, 2002 and November 26, 2006 will be reviewed. We anticipate approximately 40 patients. We hypothesize that the presence of descending aortic flow reversal correlates with a higher morbidity and mortality in TAPVC.