View clinical trials related to Congenital Disorders.
Filter by:Environment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish version of Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) in a sample of Turkısh children.
Congenital pulmonary malformation in children is a rare abnormality mostly diagnosed before birth during antenatal ultrasound examinations. These lesions may expand to form lung cysts in children, cause recurrent lung infections and has a potential for malignant change. Therefore, surgical removal in childhood is favoured as the treatment of choice. The surgical correction may involve 'open' surgery or 'key hole' surgery. There is, however, a variation in surgical and anaesthetic techniques and timing of this surgery and subsequent complications reported post-surgery. The purpose of this investigation is to review anaesthetic and surgical case notes and the subsequent well-being of all children who underwent lung surgery to remove above lung lesions over the last 10 years (2008-2017) at a regional centre. The aim is to look at the current status of these children in relation to their health, growth and development evaluated via a 20-minute structured telephone interview with prior consent.
The study aims at evaluating the feasibility and the efficacy of the Teen On-line Problem Solving program (TOPS) in improving executive functioning and behavior problems in adolescents aged 11-19 years with congenital disability due to brain malformation/syndrome. In order to control for placebo effects, participants are randomized into two intervention conditions. Group 1 performs the regular version of the TOPS, while Group 2 performs a modified version containing no activities on executive functions, behavioral strategies and social skills.
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.
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.
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.
Given the relative lack of information regarding the risks associated with repeat sternotomy in the pediatric patient population, a preliminary screen of the Children's Cardiothoracic Surgery Database was performed to determine how many repeat sternotomies have been performed at this institution within the last 4 years. A total of 1281 repeat sternotomies were identified during this time period. We propose a retrospective review of the indications, potential risk factors, and short-term outcomes for these procedures. These data would allow a multivariable regression analysis to identify risk factors associated with adverse events during repeat sternotomy.
Mortality after neonatal cardiac repair remains significant, and neonates who have undergone operative repair of congenital heart disease may experience sudden and unexpected demise. Most of these deaths occur within the first 72 hours and have been attributed to poor systemic cardiac output. The literature currently does not define an early and reliable predictor of poor post-operative outcome in children with congenital heart disease who have recently undergone surgery. The investigator wishes to perform a retrospective chart review to independently define the predictive values of both NIRS score and serial serum lactate levels in the setting of early post-operative morbidity.