Active clinical trials for "Congenital Abnormalities"

The investigators have developed a diagnostic test for the evaluation of the presence of fetal malformations through metabolomic analysis of maternal peripheral blood serum by chromatographic techniques and mass spectrometry, and subsequent mathematical modeling analysis of the data by means of multivariate mathematical models specifically developed for this purpose. The study aims at determining the performance parameters (specificity, sensibility, positive predictive value (PPN), negative predictive value (NPV), etc.) of the test and its applicability. To do this, the investigators will use the serum samples of the patients enrolled in New Zealand in the SCOPE Study (www.scopestudy.net), an international study conducted between years 2004-2008.

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 goal of this pilot project is to test the new Radialis Positron Emission Mammography (R-PEM) system in breast cancer patients that has a higher sensitivity with lower radiation doses than conventional PET/CT. The plan for the pilot study is to image patients who are already scheduled for diagnostic imaging for breast cancer after a positive core biopsy. Participants will be injected with 5mCi of F-18 FDG and patient will wait for a couple of hours for uptake of FDG. After this time, the first R-PEM scan will occur. Additional optional R-PEM scans can be performed 4 hours after injection and 7 hours after injection with reductions in radiation emission. Additionally, R-PEM images will be compared to standard-of-care breast MRI and digital breast tomosynthesis to study extension of disease and screening of contralateral breast.

272 subjects with "high risk" adult spinal deformity requiring surgical correction were enrolled in the previous prospective multi-center international Scoli-RISK-1 study. "High risk" patients were defined by either their diagnoses and/or the type of surgical intervention as listed in the inclusion criteria. Neurological complications in the form of new motor and sensory deficits were monitored prospectively in all patients at hospital discharge, at 6 weeks (± 2 weeks), 6 months (± 2 months) and 24 months (± 2 months) after the surgery. The relationship to the surgical intervention was assessed in all new deficits. Regression analyses were used to evaluate the association between patient demographics, co-morbidities, treatment history, spinal deformity characteristics, surgical characteristics, non-neurologic complications and pre-surgical status to occurrence of a neurologic deficit after surgery. All enrolled Scoli-RISK-1 participants will be re-consented and asked to return for a 5 year FU visit.

The parameters of the sagittal balance of the cervical, thoracic and lumbar spine vary according to the types of spino-pelvic organization (types 1-4 according to Roussouly). These parameters have been described as a function of age in previous scientific work without taking into account the pelvic anatomy (pelvic incidence and spino-pelvic organization). This work, carried out within the framework of a round table of the French Society of Spinal Surgery (SFCR), would make it possible to provide a more detailed repository of existing radiographic parameters.

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 goal of this observational is to compare in describing fetal health conditions. The main questions it aims to answer are: fetal electrocardiogram (fetal heart rate and fetal rhythm) electrohysterography (uterine contractions). Participants will wear wearable devices and CTG equipment for monitoring for 30 minutes.If there is a comparison group: Researchers will compare clinical CTG equipment to see if this wearable device.

The American Orthopedic Foot and Ankle Society hallux metatarsophalangeal-interphalangeal joint scale (AOFAS Hallux MTP-IP) is originally developed in English to evaluate the pain, function and alignment in patients with hallux deformities. The purpose of this study is to translate and cross-culturally adapt the AOFAS Hallux MTP-IP scale into Turkish and investigate its psychometric properties.

Midfoot and backfoot deformities are well described in children with Cerebral palsy. However, data regarding forefoot deformities in Cerebral palsy remain scarce in a population were foot deformities are the most frequent musculo-skeletal deformities.

A cross-sectional analysis of prevalence data from a stratified sample of 23 countries used to estimate the global need for palliative care for children aged 0-19 years. Prevalence data, from the Institute for Health Metrics and Evaluation, was for 12 major diagnostic groups needing children's palliative care according to WHO and UNICEF guidelines.