View clinical trials related to Congenital Abnormalities.
Filter by:Approximately 340 babies are born with Hirschsprung's disease (HSCR) or an anorectal malformation (ARM) per year in the UK. Most require corrective surgery in the newborn or early infancy period. In both conditions, there is both variability in the severity of the condition and the type of operative technique used. Many children do well following surgery and have good continence in later life. However a significant proportion of children suffer from a lifetime of constipation or incontinence. This has a significant impact on their social and psychological welfare and is a significant burden on healthcare resources. Due to the variation in practice, there are limited data on long-term outcomes following surgery for children with HSCR or ARMs. Where studies have been performed, they often include small numbers, non-standardised outcome measures and short follow-up periods. It is therefore difficult to ascertain the effectiveness of different management strategies. However, a recent Delphi process has been carried out to establish 10 core measures in HSCR to improve outcome reporting. This research group has a long track record in this research area, specifically in the determination of long-term outcomes of children with HSCR, leading to well cited papers within the literature. In the last 2 decades there has been a significant change in the surgical techniques used in HSCR, however the underlying evidence base for this is still lacking. This study seeks to follow-on from previous studies looking specifically at the long-term outcomes in children with HSCR. Furthermore, the aim is to widen the study to encompass all children treated at Alder Hey and also to use the same methodology to assess long-term outcomes for children with ARMs, as both groups of patients experience similar long term morbidity. This will provide qualitative and quantitative data aiding counselling parents of children with HSCR/ARM.
The purpose of this study is to investigate the role of multimodal CT in evaluating and predicting different clinical outcomes in patients with unruptured brain arteriovenous malformations with medical management alone. This study will be undertaken in the following aspects: 1. Morphological, structural and imaging histological signal analysis based on multimodal CT to explore the relationship between imaging features and different clinical outcomes of bAVMs. 2. Hemodynamic and flow pattern analysis of local and peripheral bAVMs based on multimodal CT to explore the association between blood flow features and different clinical outcomes. 3. Based on multimodal CT and deep learning algorithms to create an automated segmentation model for bAVMs and a prediction model for distinct clinical outcomes. The obtained patient information includes: Baseline information, CT, MRI, DSA (Optional), and follow-up information. Follow-up will be undertaken at 6 months, 12 months, 24 months and 36 months after enrollment with the following primary observation. Main observation endpoints: 1. Hemorrhage events associated with bAVMs 2. New epilepsy symptoms or exacerbations 3. New neurological dysfunction(including motor dysfunction, cognitive dysfunction, etc).
The Direction Générale de l'Organisation des Soins (DGOS) and the Banque Nationale de Données Maladies Rares (BNDMR) have launched a call for a letter of commitment for the implementation of a diagnostic observatory in order to fight against diagnostic wandering and impasse. In this context, the AnDDI-Rares network proposes 3 work packages (WP) to respond to the missions entrusted to it. Work package 1 of the diagnostic observatory includes a retrospective and prospective study to evaluate how diagnostic wandering and impasse has evolved within the network, with regard to the integration of new technologies, and the expectations of patients and their families. Work package 2 of the diagnostic observatory includes a reassessment of sporadic copy number variations (CNV) of unknown significance of more than 1 Mb obtained since the beginning of CGH array analyses in the territory. Work package 3 of the diagnostic observatory aims to help put an end to diagnostic wandering for patients with certain emblematic syndromes by proposing genome and RNA analysis, which provides a certain diagnosis and negative targeted molecular study.
This study aims to develop a new instrument capable of providing an efficient measure of the quality and quantity of adherence to Physiotherapy Scoliosis Specific Exercises performed at home by growing patients with spinal deformity undergoing conservative treatment at a specialized institution. The development of a questionnaire in a Rasch environment and specifically developed for this population will ensure greater sensitivity and specificity of the questionnaire.
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.
Generation Victoria (GenV) is a longitudinal, population-based study of Victorian children and their parents that will bring together data on a wide range of conditions, exposures and outcomes. GenV blends study-collected, study-enhanced and linked data. It will be multi-purpose, supporting observational, interventional, health services and policy research within the same cohort. It is designed to address physical, mental and social issues experienced during childhood, as well as the antecedents of a wide range of diseases of ageing. It seeks to generate translatable evidence (prediction, prevention, treatments, services) to improve future wellbeing and reduce the future disease burden of children and adults. The GenV Cohort 2020s is open to all babies born over a two-year period, and their parents, residing in the state of Victoria Australia. The GenV Cohort 2020s is preceded by an Advance Cohort of babies born between 5 Dec 2020 and 3 October 2021, and their parents. This comprises all families recruited at GenV's Vanguard hospital (Joan Kirner Women's and Children's) and at birthing hospitals throughout Victoria as GenV scaled up to commence recruiting for the GenV Cohort 2020s. The Advance Cohort have ongoing and full participation in GenV for their lifetime unless they withdraw but may have less complete data and biosamples.
The restriction of the range of motion is one of the most frequently encountered complications after the surgical procedures of the knee. While the flexion deficit is relatively well tolerated, even the small extension deficit significantly impairs the quality of life due to the increased stress on the patellofemoral joint, functional leg length discrepancy and the subsequent mechanical overload in the hip joint, lumbar spine and contralateral knee. In the majority of cases the guided physiotherapy protocol is sufficient to restore the full range of motion. In refractory cases, the treatment consists of the thorough arthrolysis of the affected knee, aiming to excise the adhesions, osteophytes and orthopaedic implants interfering with the knee range of motion. However, as the extension deficit persists, the contracture of the knee posterior capsule may develop and the sole debridement of the knee may be insufficient. In such rare cases the treatment consists of the posterior capsulotomy of the affected joint. Traditionally, this procedure was performed through the open approach. However, with the growing indications toward the arthroscopic procedures seen in recent decades, even such salvage procedures like posterior knee capsulotomy are increasingly performed through the arthroscopic approach. The aim of this study is to assess the outcomes of the arthroscopic complete posterior capsulotomy of the knee basing on the knee range of motion and functional outcomes. The primary outcome consists of the knee extension, whereas the secondary outcomes include knee flexion, knee total range of motion, The International Knee Documentation Committee Questionnaire and the Knee injury and Osteoarthritis Outcome Score.
Implant devices are important tools - their use is essential across a number of orthopaedic indications, including hip conditions, trauma and limb deformity. Given the vital role fixation devices play in maintaining alignment, promoting healthy bone healing and preventing joint degeneration, it is essential to understand the expected lifetime outcomes of these implants, and evaluate their safety and efficacy. Prospective implant efficacy and safety registries are needed to support this endeavour, especially considering new regulatory requirements from the European Union Medical Devices Regulation (EU MDR) in relation to post-market clinical follow-up (PMCF).
In this case, we report a case of atresia syndrome (LIS), a serious neurological disease caused by pulmonary arteriovenous fistula (PAVM). We present a previously healthy middle-aged woman who developed atresia syndrome after severe pontine infarction due to basilar artery occlusion due to undiagnosed arteriovenous malformation. This report reviewed the medical history, post-admission examination and related literature, and concluded that PAVM should be considered as the cause of implicit stroke, especially in young patients with right-to-left shunt, and should be actively treated.
Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 22 years. Recruitment period: 24 months. Follow-up time per patients : 20 years Expected number of cases : 300 index cases: 150 single index cases and 150 trio families Treatment, procedure, combination of procedures under consideration : - Blood samples for genetic analyses collected at the inclusion visit for patients and parents in case of trio families Schedule of different visits and examinations : Inclusion visit: - Collection of demographic, clinical data from the index case and parents - DNA sampling for genetic research (biocollection) of the index case or family trio - Completion of the quality of life questionnaire Annual visit with a 20 year follow-up: - Retrieval of data from the index case - Completion of the quality of life questionnaire