Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology
MicrotiaMicrotia-Anotia5 moreThe CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked to upload a few photos of their face. Parents are asked a short interview. Participants are able to participate from home or at one of four domestic sites.
Effect of Corticosteroid Treatment on Prognosis in ARDS Secondary to Covid-19
Acute Respiratory Distress Syndrome Secondary to Covid-19Study conducted on hospitalized patient in critical ill units in Nancy and Metz to evaluate if early corticosteroid treatment in first seven days after admission improve patients outcome in Acute Respiratory Distress Syndrome secondary to Covid-19 compared to later corticosteroid therapy or no treatment. Also comparison of acquired infection with or without corticosteroid treatment during hospitalisation.
Assessment of Skills and Behaviors in Children With Down Syndrome
Down SyndromeParents of children with Down Syndrome can help in describing children's abilities and behavior. Most of the studies evaluating parents of children with Down Syndrome and other intellectual disabilities have focused on parental stress and coping; Additionally, most research has evaluated the perspectives of mothers rather than fathers. For this reason, in this study we aims to evaluate skills and behaviors in children with Down syndrome through the perception of parents.
Assessment of Neural Oscillations in Adult Subjects With Down Syndrome and Typically Developing...
Down SyndromeBackground: It has been proposed that a hyperactivity of the endocannabinoids system could be involved in the cognitive deficits involved in Down Syndrome (DS). Hyperactivation of the type-1 cannabinoid (CB1) receptor by exogenous cannabinoids, such as the active principle of cannabis tetrahydrocannabinol (THC), induces several modifications of the electroencephalogram (EEG). The goal of this study is to compare those CB1-dependent EEG parameters in subjects with DS and age-matched typically developing subjects (TD, control group). These investigations can increase our knowledge of the involvement of the CB1 receptor in DS cognitive deficits and potentially identify biomarkers of target engagement of new therapies of this condition. Hypothesis: It was recently showed in pre-clinical DS models that the endocannabinoid system is hyperactivated in the brain and that human adult subjects with DS showed higher plasma concentrations of the main endocannabinoids 2-arachidonoylglycerol (2-AG) and anandamide (N-arachidonoylethanolamine, 2-AEA) as compared with those found in typically developing subjects. Alterations of neural oscillations induced by the consumption of THC preparations are well established and it is hypothesized that they would be similar to those found in subjects with DS. Objectives: To assess different neural markers using electroencephalography (EEG) in typically developing subjects and in subjects with DS in resting state and while conducting selected cognitive tasks. Methods: Non-interventional, cross-sectional, monocenter study in male and female adult subjects with DS and typically developing subjects (total n=48).
Neuromuscular Ultrasound in Correlation to Neurophysiological Findings
Carpal Tunnel SyndromeDiabetic Neuropathies1 moreStudy the neuromuscular ultrasound findings in different types of neuropathies correlation between ultrasound and neurophysiological findings in peripheral nerve diseases correlation between clinical pain scale and severity of neuropathy
Metabolic Syndrome in Patients Undergoing Endovascular Aortic Repair (EVAR)
Metabolic SyndromeEndovascular Aortic RepairThis prospective study aims to identify the prevalence of metabolic syndrome in patients undergoing EVAR and the implications of metabolic syndrome on the postoperative outcome, the major complications, the thromboembolic events and the perioperative mortality and morbidity of the patients undergoing vascular surgery.
The Correlation Between Genetic Polymorphism, Platelet Activity, Clopidogrel Responsiveness, and...
Acute Coronary SyndromeChronic Coronary Artery DiseaseIn this study, we evaluate the acute coronary syndrome patients to see if there is correlation between platelet activity, genetic polymorphism (CYP2C19 and ABCB1), serum adipokines level, and Clopidogrel responsiveness.
Female Chronic Pelvic Pain
Pelvic PainAbdominal Pain3 moreThe purpose of this study is to investigate the frequency and severity of chronic pelvic pain (CPP) in adult women living in Copenhagen Country and Zealand Country (total population 2,4 million), Denmark, in relation to selected factors, such as basic demographic and clinical factors, health related quality of life, physical activity and abnormal muscular findings in the pelvic area.
Cohort Study of Clinically Isolated Syndrome and Early Multiple Sclerosis
Multiple SclerosisMS1 moreA majority of patients with multiple sclerosis initially presents with a single demyelinating event, e.g. in the optic nerves, brain, brainstem or spinal cord, referred to as a clinically isolated syndrome (CIS). Not all patients with CIS get a relapse and develop multiple sclerosis but in those patients who do, irreversible damage of the central nervous system, e.g. axonal damage, is already detectable in that early stage of disease. Early initiation of immunomodulatory therapy is crucial for patients with clinically isolated syndrome who are at high risk for the development of multiple sclerosis. Vice versa identification of low risk patients could help to avoid an unnecessary therapy. In this prospective observational study we want to follow up patients with CIS and early multiple sclerosis over a period of four years and obtain clinical, laboratory and MRI - data in order to identify risk factors for relapses, prognostic factors and therapy response markers.
Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome
SUSAC's SyndromeEncephalopathy2 moreSUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far. The objective of this study is to characterize the epidemiological, clinical, and etiological features of SUSAC's Syndrome. In this aim, the investigators will constitute a national clinical-based cohort including all SS cases retrospectively reported in France since the last 20 years and all new cases prospectively observed. French Society of Neurology, Ophthalmology and Internal Medicine will be asked to collaborate. Every case will be reviewed by an expert comity of internists, neurologists and neuroradiologists to validate the diagnosis. The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease. Serum, cerebrospinal fluid, and DNA samples from each patient will also be collected to study potential autoimmune, thrombotic and infectious markers.