Reverse Transcriptase Inhibitors in AGS
Aicardi-Goutières Syndrome (AGS)The purpose of this study is to determine if treatment with reverse transcriptase inhibitors returns the interferon signature observed in patients with AGS to normal levels.
A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives
Neural Tube DefectsCongenital3 moreThe purpose of this study is to compare red blood cell folate levels in women who are taking oral contraceptives with or without folic acid
Clinical Utility of Prenatal Whole Exome Sequencing
Structural AnomaliesCardiac Anomalies6 moreThe investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.
Compare the Medical Conditions of Gulf War Veterans to Non-Deployed Veterans
Chronic Fatigue SyndromeFibromyalgia3 morePrimary Hypothesis: Gulf War veterans will have an equal prevalence or mean level of the following medical and psychological conditions frequently reported in the literature compared to a control group of nondeployed veterans: (1) chronic fatigue syndrome, (2) fibromyalgia, (3) post-traumatic stress disorder, (4) neurologic abnormalities, including peripheral neuropathy and cognitive dysfunction, and (5) general health status.
Comparison of Abnormal Cortical Development in Brain Malformations on Postmortem Imaging With Autopsy...
Brain MalformationExamination of the fetal brain at autopsy is technically challenging because of marked fragility of the brain tissue. Studies have found postmortem fetal MR to be particularly useful in examining gross structural abnormalities in fetal brain and spine. We have recently included postmortem MR as part of the radiological studies for fetal autopsy workup. Using the same MR data, the development of normal layering of the brain, also called laminar organization, can also be assessed. This laminar organization of the brain is often disturbed in congenital malformations. Our aim is to study the disturbance in laminar organization of the postmortem brain with MR, using structural MR and a type of MR sequence called diffusion tensor imaging, which is well suited for assessing the organization of the developing brain. The postmortem MR findings will be compared with gold standard of histopathology. This will help us understand the abnormal development of gray and white matter in brain malformations. Knowledge gained from studying the abnormal laminar organization in brain malformations will serve as a reference for future studies of fetal brain malformations in-utero using MRI.
WHO Covid 19 - Neurological Abnormalities in SARS-CoV-2 ICU Patients
SARS-CoV-2 InfectionIntensive Care Unit Patient3 moreThe SARS-CoV-2 epidemic is leading to a large number of patients in intensive care units due to severe hypoxemic pneumonia. After an acute phase that may require controlled mechanical ventilation and deep sedation, removal of sedation often reveals a pathological awakening in the vast majority of patients. This encephalopathy state remains, to date and to our knowledge, unexplained. Clinical features do not appear to fully correlate with regular delirium. This encephalopathy might be explained by deep and prolonged hypoxemia, a wide use of sedation drugs, systemic inflammation or the hostile ICU environment.