View clinical trials related to Congenital Abnormalities.
Filter by: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 aim of this study is to analyze all of the variables with a Hierarchical Cluster Analysis of Multivariate Statistical Methods to obtain more sensitive results, and also to add a new dimension to the hypothesis included in the study.
The study is being done to assess if the use of bracing helps improve quality of life of patients that are undergoing a spinal fusion for deformity. If the participant agrees to be in this trial they will be randomly assigned (like the flip of a coin) to receive either brace treatment or non-brace treatment. Regardless of what treatment group the participants are in, they will undergo surgery as planned. After surgery, patients in both groups will be treated per standard of care.
Computed tomography (CT) is the modality of choice to characterize pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. This retrospective study included patients with HHT-related PAVMs. CT results, PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess.
The purpose of this study is to explore the feasibility of implementing nurse-led music therapy in a cohort of neonates admitted to the Cardiac Intensive Care Unit (CICU) post congenital heart surgery. In the proposed setting, the use of a standardized nurse-led music therapy protocol for post-operative neonates would build upon current successful nurse-led efforts to wean sedatives and opioid use for patients admitted to the CICU. The investigators believe data generated from this exploratory feasibility study may serve to further inform a larger study involving the use of music therapy in the cardiac intensive care.
The aim of this study is to investigate the effects of statins on chronic inflammation, coronary artery abnormalities and clinical cardiac events in long-term KD children complicated with severe coronary artery abnormalities, and the feasibility and safety of statins in treatment of KD children.
A multicenter, international prospectively collected patient cohort undergoing high-risk spinal cord level surgery or spinal osteotomy procedures will be enrolled to establish the incidence of intraoperative alerts in high-risk spinal cord cases, and explore factors associated with mitigating injury. Baseline, intraoperative, and postoperative characteristics, including demographics, radiological features, lower extremity motor score (LEMS), procedure, anesthetic agents used, and baseline blood pressure will be recorded for either adult patients or pediatric patients.
This study aims to validate a non-invasive method of chromosomal screening (NICS), based on the Multiple Annealing and Looping Based Amplification Cycles- Next-generation Sequencing (MALBAC-NGS) technology, in order to determine the chromosomal endowment of a blastocyst from the DNA of the embryonic culture medium. The chromosomal status of the embryo from an embryo biopsy of trophoectoderm will be established (usual clinical practice), the chromosomal endowment from the DNA of the embryonic culture medium will be determined, and the results using the NICS and the conventional invasive method (Preimplantation Genetic Testing for Aneuploidy [PGT-A]) will be compared.
Introduction. Vertical jump is the main movement in volleyball, and the main etiological factor of patellar tendinopathy. The eccentric exercise has been proved as the most effective intervention in improving this factor. Aim. Annalise the effectiveness of the load control during the eccentric exercise to increase the cross-sectional area as well as the increase of the pain threshold of the patellar tendon, and the gain of the quadriceps maximum strength, in volleyball older players. Study design. Randomized clinical study, simple blind, multicentric and with a follow-up period. Methods. 40 volleyball players will be recruited, who will be randomized to the two groups: experimental (control of the load based on the RM during the eccentric exercise of quadriceps) and control (without load control). There will be an intervention of 4 weeks with 2 weekly seasons of 10 minutes each. The dependent variables will be: cross-sectional area (ultrasound evaluation), pain threshold in the patellar tendon (analog or digital algometer) and the maximum strength of the quadriceps (linear encoder or estimating the RM). In case of normality of the distribution of the sample, parametric tests will be used: student t-test of related samples (difference between evaluations in each rump) and repeated measures ANOVA (intra- and intergroup effect). Expected results. To observe an increase in the cross-sectional area, pain-threshold of patellar tendon and quadriceps maximum strength.