View clinical trials related to Congenital Disorders.
Filter by:Primary Study Objective The primary objective of the study is the definition of distinct vocal phenotypes and the development of an Explained Decision Support System (DSS) for the automatic detection of vocal patterns in relation to the syndrome from which the patients suffer Secondary: 1. Perceptual and acoustic analysis of voice recordings 2. Development of a voice recording collection system.
Progressive destruction of the lungs is the main cause of shortened life expectancy in people with cystic fibrosis (pwCF). Inflammation and respiratory infections play a key role in CF lung disease. Previous studies have shown that an increase in inflammatory markers predicts structural lung damage. Close monitoring of pwCF is crucial to adequately provide optimal care. Pulmonary management for pwCF involves treating infections and exacerbations and promoting exercise and mucociliary clearance to slow or prevent structural lung damage. To evaluate the treatment and incite timely interventions it is important for the pulmonary physician to be well-informed about the condition of the lungs. The main monitoring tools in regular CF care are lung function, sputum cultures, symptom reporting and more recently imaging by chest computed tomography (CT-scan) or magnetic resonance imaging (MRI). Strangely enough, there are currently no monitoring tools used in clinics to measure inflammation in the lung, although this is a main factor for progressive lung disease. New highly effective modulator therapy (HEMT) such as elexacaftor/tezacaftor/ivacaftor [ETI, Kaftrio®] is transforming CF treatment, vastly improving lung function and reducing exacerbations. Initial CFTR modulators like ivacaftor and lumacaftor/ivacaftor also improved lung function and reduced exacerbations, but studies showed that lung inflammation was still present. The long-term impact of ETI and its effect on inflammation is not yet known. Thus, monitoring pwCF on HEMT may be different from before, as lung damage seen on chest CT will be less apparent and lung function will improve considerably, therefore not being adequate markers for subtle changes in the lungs. Thus, the focus of monitoring in the era of highly effective CFTR modulators needs to change preferably focusing on measuring lung inflammation. An ideal monitoring tool for lung inflammation in pwCF should be non-invasive, efficient, and provide accurate and sensitive results. Currently, sputum and BAL are the most common methods for assessing inflammation, but BAL is invasive and sputum may not always be available. Exhaled breath analysis by the electronic nose (eNose) or gas chromatography-mass spectrometry (GC-MS) of volatile organic compounds (VOCs) shows promise as a non-invasive monitoring tool. Other promising markers and techniques are inflammatory markers in the blood (cytokines and micro-RNA (miRNA)) and urine. Thus, the objective of this project is to design novel, minimally invasive monitoring techniques capable of identifying lung inflammation in pwCF undergoing highly effective CFTR modulator therapy (ETI) compared to those not using CFTR modulators. The efficacy of these innovative techniques will be evaluated and verified against inflammatory markers in sputum, spirometry, and validated symptom and quality of life scores.
The goal of this observational study is to learn about vaccinations hesitancy, delay or avoidance in children with chronic diseases, congenital anomalies or disabilities. The main questions it aims to answer are: • Attitudes of caregivers towards vaccinating their children, obstacles that postpone vaccinations, and the status of vaccinations of these children. Participants will fill out questionnaires and some will be included in focused groups for the qualitative part of the study. Researchers will compare the vaccinations status of the research group to their siblings' status as well as the published national records of vaccination compliance.
The goal of this observational study is to determine the incidence of perioperative cerebral desaturation in neonates undergoing surgery for congenital malformations. The main questions it aims to answer are: 1. The perioperative factors associated with occurrence of cerebral desaturation 2. The association between perioperative cerebral desaturation, perioperative/hospital outcomes, and physiological conditions. Participants will undergo Near-infrared spectroscopy (NIRS) and electroencephalogram (EEG) monitoring for one hour before surgery, during surgery, and up to 24 hours after surgery.
The urotheliasis is a common problem encountered daily by all urologists worldwide with rates up to 13% in North America, 9% in Europe and 5% in Asia . The urotheliasis is treated by conservation, medical treatment and surgery according to many factors . Anomalies in the kidney happens due to failure in ascending , fusion, rotation or all together, horse-shoe kidney is the most common example , found in one of 400 patients . PCNL and URS are the golden standard method for stone extraction worldwide, since their introduction 1975 by Fernstrom and Johansson & Arthur Smith respectively in normal kidney .Since the development of the endourological procedures and instrument , continuous updates and upgrades have been applied ,such as enhancing the optical systems ,reducing the diameter, navigation (deflection angles) and stone fragmentation .Stone treatment in anomalous kidney is more demanding, requires more skills and training . The flexible ureterorenoscopy has some problems first the cost but this problem is being now solved by the use of disposable scopes , second the skills it requires , third the possibility of sepsis is higher . To our knowledge most of the studies in the literature are retrospective, carrying some weakness in them. There is no agreed-upon therapeutic method for treatment of stones in anomalous kidney so the investigators will evaluate the role of F-URS in a prospective study.
Knowledge about abnormal organ development is important to understand pathology and to develop novel treatment approaches for individuals with congenital and acquired disease. Most of our current understanding is based on examination of tissues from the embryo and early fetus, collected from women undergoing termination of pregnancy in the first trimester (third) of pregnancy. There is very little known about normal and abnormal organ development from a developmental perspective during the crucial last two-thirds of pregnancy when much remodelling of fetal tissues occurs. We aim to collect tissue from a variety of developing fetal organs in the last two-thirds of pregnancy from women who decide to undergo a termination of pregnancy and who wish to undergo a clinical fetal postmortem (PM) examination.
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 purpose of this study is to develop a pharmacovigilance (PV) surveillance program to monitor adverse pregnancy and infant outcomes, including the presence of congenital abnormalities, among HIV-positive and HIV-negative women and their infants at clinical sites affiliated with the International Epidemiology Databases to Evaluate consortium (IeDEA).
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.