Intranasal Oxytocin for Infants With Prader-Willi Syndrome
Prader-Willi SyndromeThe purpose of this study is to compare the change in suck and swallow competency from baseline to morning of day 6 with intranasal oxytocin spray vs placebo in infants/children with Prader-Willi Syndrome who are in nutritional phase 1a. Videofluoroscopic swallow studies will be performed on treatment day 1 and on the day following treatment morning of day 6.
Tracking Neurodegeneration in Early Wolfram Syndrome
Type 1 DiabetesDiabetes Insipidus2 moreThe goal of this study is to determine the pattern of early neurodegenerative changes in WFS (Wolfram Syndrome). The investigator will perform cross-sectional and longitudinal assessments of youth with WFS, targeting sensitive neural systems with quantified neuroimaging and behavioral measures. In addition, the investigator will establish the utility of a WFS severity rating scale (WFS Unified Rating Scale or WURS). Preliminary data support the feasibility of this approach and its potential to generate important new information about neurodevelopmental and neurodegenerative patterns in WFS. This work is necessary to position the field for future clinical trials to test interventions for WFS neurodegeneration. Ultimately, a better understanding of the trajectory of neurodegeneration in WFS and the development of effective interventions may be relevant to other more common neurodegenerative and endocrine (Type 1 and Type 2 diabetes) diseases in which ER stress has been implicated.
The Impact of Metabolic Syndrome on Patients Undergoing Elective Laparotomy
Metabolic SyndromeAnesthesia2 moreWorldwide, the rising incidence of obesity has led to the identification of an obesity related syndrome, called metabolic. This syndrome is characterized by central obesity, hypertension, insulin resistance and altered lipid levels. Taking into consideration the rising incidence of obesity, anesthetists will more frequently encounter patients with metabolic syndrome, in their everyday practice. Moreover, the comorbidities that are related to the metabolic syndrome, increase the risk for perioperative complications. Therefore, strategies that will evaluate and modify the risk will be of great importance in the management of these patients, in order to maximize peri-anaesthetic and surgical safety. The aim of the study is to assess the incidence of metabolic syndrome and the impact of its presence on the outcome of patients undergoing elective laparotomy.
Sensory Processing in Tourette Syndrome
Tourette SyndromeThe purpose of this study is to learn more about how patients with Tourette Syndrome deal with sensory stimuli in their environment such as bright lights, loud noises, physical sensations such as shirt tags, etcetera. We will compare responses of patients with Tourette Syndrome to those without Tourette Syndrome. The study aims to better characterize sensory processing abnormalities by sensory modality: The investigators will use a measuring tool based on Dunn's 1997 model of sensory processing, the Sensory Profile, which will allow the investigator to characterize both registration and response to external stimuli, as well as to delineate which sensory modalities are affected. Identifying which sensory modalities are most affected may guide future research into the pathophysiology of sensory processing abnormalities in TS. The investigators also aim to correlate sensory processing abnormalities with the presence of Obsessive Compulsive Disorder (OCD), Attention-deficit/hyperactivity disorder (ADHD) , and autism spectrum disorders.
Phenomics in Autoimmune and Inflammatory Diseases
Healthy VolunteerRheumatoid Arthritis12 moreThe family of inflammatory/autoimmune systemic diseases (IAD) form a continuum from pure inflammatory diseases to pure autoimmune diseases, encompassing a large panel of inflammatory diseases with some autoimmune components, and vice versa. Cross phenotyping of patients with IAD should be heuristic and help revise the nosography and the understanding of these diseases.
Efficiency of a Phone Coaching for Sleep Apnea Hypopnea Syndrome Patients
Sleep Apnea SyndromesBackground: Continuous Positive Airway Pressure (CPAP) remains the reference treatment for moderate to severe forms of the Sleep Apnea/Hypopnea Syndrome (SAHS). Compliance to the treatment appears to be a key factor to improving health status of these patients. Methods: The investigators conducted a multicenter, prospective, randomized, controlled, parallel group trial of standard support completed or not within 3 months of coaching sessions for newly diagnosed SAHS patients starting CPAP therapy. The coaching session consisted of 5 sessions of telephone-based counseling by competent staff. The primary outcome was the proportion of patients using CPAP more than 3 hours per night for 4 months; the secondary outcome was mean hours of CPAP usage in the 2 groups.
Efficacy of Adding Budesonide to Poractant Alfa to Prevent Bronchopulmonary Dysplasia.
Bronchopulmonary DysplasiaInfant,Premature1 moreThis study evaluates the addition of budesonide to poractant alfa to prevent bronchopulmonary dysplasia in preterm infants with respiratory distress syndrome. Half of the participants will receive budesonide and poractant alfa in combination, and the other half will receive poractant alfa with saline.
Impact of Arterial CO2 Tension on Management and Outcome in Patients With Acute Hypoxemic Respirator...
Acute Severe Respiratory FailureAcute Respiratory Distress SyndromeThere appears to be considerable variability in the approach physicians use to manage arterial carbon dioxide tensions, in patients in the early phases [first 48 hours] of ARDS (Acute hypoxemic respiratory failure and). A number of specific concerns exist, particularly the use of greater than needed inspired oxygen concentrations (potentially in 40% patients), and the proportion of hypocapnic patients in our cohort.
Targeted Literature Review and Subject Interviews in Wiskott-Aldrich Syndrome (WAS)
Wiskott-Aldrich SyndromeWAS is a rare primary immune deficiency disease caused by genetic mutation and is more common in males than females. The purpose of this study is to understand experiences of WAS subjects and caregivers to identify important concepts of interest that could be measured in future Phase IIIb trials. This is a qualitative cross-sectional study that will include a sample of approximately, 8 subjects with WAS and 13 caregivers of subjects with a diagnosis of WAS in the United States, United Kingdom and France. A 60 to 90 minute open-ended interview will be conducted over the telephone or video conference that will be audio-recorded for subsequent transcription. The aim of these interviews is to obtain subject and caregiver perspectives on the impact of WAS and its associated treatments on quality of life and experiences of living with WAS.
A Study to Evaluate the Safety and Effectiveness of Oculeve Intranasal Lacrimal Neurostimulator...
Dry Eye SyndromeKeratoconjunctivitis SiccaThe purpose of this study is to compare acute tear production produced by the Oculeve Intranasal Lacrimal Neurostimulator with two control devices in participants with aqueous tear deficiency.