Active clinical trials for "Congenital Abnormalities"

Current lab reports are designed to communicate results from the laboratory to the provider; they are not designed to be accessible to patients. The investigators believe that a new type of genomic test report, tailored for patient- as well as provider-use, will enable patients to have access to information they can understand allowing them to be more involved in the management of their disorders, better navigate the health care system, and make more informed decisions about their health and health care in conjunction with their providers. This approach has the potential to improve outcomes from both the patient and provider perspectives. The investigators propose to study the research question, "Can a genomic laboratory report tailored for both providers and families of patients improve interpretation of complex results and facilitate recommended care by enhancing communication and shared decision making?"

Background and Objectives: Double-jaw surgery is one of the most painful oral surgery, requiring multimodal analgesia including controlled morphine pump and its secondary effects. The aim of this study was to evaluate the effectiveness of face block (mandibulary and maxillary block analgesia) on the first 24 hours on morphine consumption in patients admitted for double jaw surgery.

In approximately half of individuals with Down syndrome, an higher than normal number of vessels cross the optic disc margin. Investigator hypothesize that early retinal vessel branching occurs due to inhibition of angiogenesis by triplet overexpression of endostatin, an angiogenesis inhibitor encoded on chromosome 21. Since angiogenesis is critical in the development of eyes and other organs angiogenesis depended (specially kidney, brain, and recently described lungs and heart), early branching of retinal vessels at the level of the optic disc would also likely result in abnormal renal and other organs development in these individuals. Investigator wish to determine whether observation of optic disc vessels may serve as an indicator of elevated endostatin levels and other angiogenesis-dependent organs anomalies.

Background: Five billion people worldwide do not have access to safe, affordable surgical care. A significant proportion live in sub-Saharan Africa (SSA), where up to 50% of the population are children. There is limited literature on neonatal and paediatric surgery in SSA and children's surgery does not appear on any of the National Health Strategic Plans for the 47 independent countries across SSA. Objectives: To form a collaboration of surgeons and allied health professionals involved in children's surgery across SSA and collectively undertake the largest prospective cohort study of paediatric surgery in this region. Materials and Methods: Data will be collected via REDCap website on all patients with gastroschisis, anorectal malformation, appendicitis, inguinal hernia and intussusception, during a 1-month period of collaborators choice between October 2016 to April 2017, with a 30-day follow up until the end of May 2017. Estimated study population: 1450 patients from 50 institutions. Full ethical approval has been granted by the host centre; local ethical approval will be required at collaborating centres for participation. All collaborators will be co-authors. Primary outcome will be in-hospital all-cause mortality. Secondary outcomes will include post-intervention complications. Data will be collected on institutional facilities, patient demographics, duration from condition onset to presentation, peri-operative resuscitation, intervention and outcome. Differences in outcomes between SSA and benchmark data from high-income countries will be calculated using chi-squared analysis. Multi-level multivariate logistic regression analysis will be used to identify interventions and peri-operative factors associated with improved outcomes; p<0.05 will be deemed significant. Outcome: Results will be used to advocate for enhanced children's surgical services in SSA. We shall identify context-appropriate interventions associated with improved outcome. The collaboration will help to enhance research capacity in the region.

Animal studies have shown that INH-RIF-induced oxidative injury can be prevented by supporting the cellular antioxidant defense mechanism by N-acetylcysteine (NAC). However, there are few published data and large sample sizes regarding the protective effect of NAC against hepatotoxicty induced by anti-TB drugs in humans, to our knowledge. Therefore, the investigators designed a clinical trial with the aim to see whether NAC could protect against anti-TB drug-induced hepatotoxicity (DIH)

The CHAPTER III Study (Congenital Heart Adolescents Participating in Transition Evaluation Research) is a cluster randomized controlled trial evaluating the impact of a nurse-led transition intervention in combination with usual care, versus usual care alone, on preparing adolescents with congenital heart disease (CHD) to successfully transition from pediatric to adult cardiology care. The Canadian Pediatric Society and American Academy of Pediatrics have recommended that transition interventions begin in early adolescence. Therefore, the investigators propose to conduct a nurse-led intervention that addresses the educational needs of 13-14 year olds.

This study determined the glycemic index and glycemic load of six Greek honey varieties

Pulmonary arterial hypertension (PAH) is characterized by the progressive increase in pulmonary vascular resistance ultimately leading to right ventricular (RV) failure. Its prevalence is estimated at 40-60 persons per million and predominantly affects people between 20 and 60 years of age. Newly available therapies have improved the 3-year survival to >80%. This improvement in prognosis brings new challenges for clinicians: PAH has changed from a rapidly fatal disease to a chronic disorder with persistent exercise limitation and poor quality of life. Many observations suggest that exercise limitation in PAH is not simply due to pulmonary hemodynamic impairment, but that other determinants are involved. Interestingly, even in absence of obesity or diabetes, insulin resistance (IR) and metabolic syndrome (MS) are highly prevalent amongst PAH patients and associated with worse outcomes. Indeed, lipid accumulation in skeletal muscle (a feature of IR) is observed in both human and experimental model of PAH, but its impact on skeletal muscle function and thus exercise intolerance in PAH remains elusive. Over the past years, several pathophysiological pathways activated by MS have been identified, including the downregulation PPARg/PGC1a and the insulin signalling pathways, especially the insulin-receptor substrate 1 (IRS1)-mediated one. The decrease in these axes is associated with lipid accumulation and impaired mitochondrial function. The investigators previously reported in PAH lungs that the downregulation of these pathways contributes to the establishment of the Warburg effect. This metabolic unbalance contributes to pulmonary artery smooth muscle (PASMC) proliferation, and resistance to apoptosis contributing to PA remodelling. The investigators recently documented that PAH skeletal muscles are less perfused and are also characterized by the presence of a Warburg effect. These features were independent of daily life physical activity. Nonetheless, the origin of these abnormalities and their impact on skeletal muscle function have never been studied. The investigators propose to determine whether or not MS seen in PAH patients impairs mitochondrial functions through an IRS1/PPARg/PGC1-dependent mechanism, which will ultimately decrease skeletal muscle function and perfusion, and thus overall exercise capacity.

The overall objective of this project is to optimize the use of diagnostic methods and follow-up programs in infants with congenital heart defects (CHDs) in order to reduce death and complications

The study is a population based prospective cohort study designed to collect data on pregnancy outcomes and events of interest among women immunized with the TIVc or QIVc vaccine during pregnancy.