View clinical trials related to Congenital Abnormalities.
Filter by:This study is a two periods multi-center Phase II trial, with a 6 months double-blind, placebo-controlled period followed by open label period, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP)
Rotational deformities, such as femoral (thigh bone) and tibial (leg bone) torsion, are established causes of patellofemoral (kneecap joint) pain and instability. Currently, computerized tomography (CT) remains the gold standard assessment tool for measuring the degree of rotational deformity. However, there is disagreement as to the thresholds for surgical correction as it is suggested that some individuals compensate for the deformity better than others. Gait (walking) analysis provides important information of the biomechanical parameters undertaken in the knee joint during dynamic movement. In patients with rotational deformities, several variations from normal gait patterns have previously been described by several authors. Therefore, it is questioned whether these parameters can be correlated with the static features of CT scans, in individuals with rotational deformities. This study aims to determine whether gait analysis is a useful tool in the diagnosis and treatment pathway for rotational abnormalities in patellofemoral pain or instability. A secondary aim of this study will be to assess whether gait analysis can detect a rotational deformity in the lower limb and determine whether the changes seen are proportionate to the level of deformity. Patients to be included in this retrospective study are, adult patients, with presumed rotational deformity of the lower limb, with anterior knee pain, who have been referred to the gait laboratory for assessment, and for CT rotational profiles. Only patients who have given consent to the gait laboratory for their information to be utilised in research will be included. Two researchers will record measures of rotational deformity from the CT images. The gait laboratory assessment includes measurements of biomechanical parameters based on joint movement through the gait cycle - these parameters will be assessed and compared with CT measures for correlation. All research will be conducted at the hospital where the gait laboratory assessment has been performed.
The aim of this study is to obtain performance and safety data of the new investigational device, dual-part Adaptos®Ortho Wedge, for its intended use in orthopaedic surgery. The study intervention is medial open wedge high tibial osteotomy (OWHTO) with loadbearing plate fixation, where a bone graft substitute material Adaptos®Ortho Wedge is evaluated when used as a bone void filler. Investigational device is expected to support bone formation in osteotomy gap and to resorb in the body. The comparator arms are treated with medial OWHTO with plate fixation, either without a bone graft (the bone defect is left empty, non-augmented osteotomy) or by using a comparator product (chronOS® Wedge, semi-circular) as a bone void filler.
Spinal deformity in adults is one of the most frequently treated pathologies in spinal surgery. Their surgical treatment remains a challenge. In particular, the choice of the borderline vertebrae for thoracolumbar fusion correction remains controversial, including the choice between an instrumented last vertebra at L5 and an arthrodesis extending to the pelvis. Studies and meta-analyses show that an ilio-sacral socket provides better correction of pelvic parameters and avoids the development of distal junctional syndrome. On the other hand, there is more proximal junctional syndrome in patients fixed to the sacrum, and the sacral socket exposes patients to the risk of pseudarthrosis of the L5-S1 level and failure of the fixation hardware. Moreover, although this factor is not described in the studies, it would seem that an ilio-sacral socket is more stiffening. Overall, no study has shown a statistically significant difference in clinical scores between patients whose last instrumented vertebra is L5 and those with pelvic fixation. One of the theoretical risks of an extended fixation with a proximal thoracic grasp is to observe a premature disc degeneration of the L5-S1 disc since it would be subjected to more stress. This degeneration could be the cause of distal junctional syndrome and lumbo-radiculalgia due to inflammatory disc disease and disco-radicular impingement. However, to Investigator's knowledge, no clinical study has yet investigated the medium- and long-term fate of the L5-S1 disc in patients with extended fusion correction of a thoracic vertebra to L5. Investigator's team has sometimes favored a final instrumented vertebra at L5 when possible, i.e., when the L5-S1 disc was considered to be minimally or not degenerative and when its horizontality could be obtained after correction of the underlying curvature. Investigators therefore have a cohort of patients who have undergone this technique. The usual follow-up of these patients includes a consultation appointment every 2 to 5 years and a control MRI at a distance of more than 5 years: investigators thus have a control MRI and the clinical score of the patients. Investigator's objective is to determine whether there is degeneration of the L5-S1 disc, using MRI imaging data, which has never been published to investigator's knowledge.
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.
The study in question is a post market clinical follow up (PMCF) study to evaluate the safety and performance of bioabsorbable headless compression screw Inion CompressOn in selected fracture, osteotomy and arthrodeses operations of the foot and ankle. The study recruits 125 adult patients who meet the acceptance criteria. The follow-up time for each study patient is 4 years. The study is a single center single group study which is conducted in Tampere University Hospital (TAYS) in Finland. The main focus of the study in terms of performance is to evaluate the bone healing/ossification of operated areas. The main focus of the study in terms of safety is to evaluate the occurrence of adverse events and required revision surgeries that are or might be related to the study device.
This will be a prospective study over a 14-month duration with clinical evaluations throughout. Limitless Solutions will provide prosthetics and training system for study subjects that qualify for enrollment.
Pregnancies complicated by obesity have an increased risk of multiple pregnancy complications, including structural fetal anomalies. Therefore, maternal obesity (BMI ≥30 kg/m2) is an indication for a detailed anatomic ultrasound examination. Ultrasound is a critical tool for the detection of congenital anomalies; however, obesity makes ultrasound examinations technically challenging. The primary objective of this ambidirectional cohort pilot study is to evaluate whether utilization of a pannus retractor is associated with increased rates of detailed anatomic ultrasound completion amongst pregnant patients with a body mass index (BMI) greater than or equal to 40 kg/m2. Retrospective data will be collected for 100 patients with a BMI of 40 kg/m2 or greater to assess the baseline rate of completion of 16 components of the detailed anatomic survey prior to the intervention. We plan to enroll 20 patients into a prospective pilot to the intervention arm. The intervention is placement of an adhesive medical device, the traxi® Panniculus Retractor (Laborie, Portsmouth, New Hampshire), which was developed for pannus retraction during cesarean section. Adequacy of anatomic ultrasound completion will be based upon 16 pre-defined views from the anatomic survey. Ultrasound completion rates from the prospective cohort of participants that undergo ultrasound evaluation using a pannus retractor will be compared to a historical cohort without pannus retractor use. We hypothesize that use of a pannus retractor for pregnant participants with BMI greater than or equal to 40 kg/m2 increases the rate of anatomical ultrasound completion.
Objective: It was aimed to evaluate the acute effect of Kinesiotape taping on pain, function, range of motion and grip strength parameters in patients with rheumatoid arthritis and hand involvement. Material and Methods: A total of 34 patients, 27 women and 7 men, diagnosed with RA according to the American Rheumatism Association (ACR) criteria were included in our study. All patients were divided into two groups as Kinesiotape and Control groups, each consisting of 17 patients. Subjective pain intensity was evaluated with the Visual Analog Scale, range of motion was evaluated with a goniometer, functional evaluation was evaluated with the Grip Skill Test, hand grip strength was evaluated with a dynamometer, and finger grip strength was evaluated with a pinchmeter. Evaluation parameters were evaluated before and 1 hour after the application, and the acute effect was examined. The patients in the kinesiotape group were taped with the mechanical correction method and the patients in the Control group were taped with tensionless gluing of the I tape. Applications were made on both dominant and nondominant hands.
The number of tattooed people is increasing and some complications secondary to tattoos suggest that the lymphatic vascular system might be implicated in their pathogenesis. Abnormalities have been described at the level of the lymph nodes draining the tattooed areas but nothing was reported about the lymphatic vessels under tattoos. This is the aim of the present work.