Default Mode Network fMRI Maps as a Predictive Index of Hepatic Encephalopathy Outcome
Hepatic EncephalopathyCirrhosis2 moreInvestigating the impact of hepatic encephalopathy on default mode networks within the brain to provide more clues with understanding the physiology of consciousness and predicting the reversibility of comatose states.
PET Imaging in Chronic Traumatic Encephalopathy
Brain DiseaseBrain MappingBackground: - Chronic traumatic encephalopathy (CTE) is a brain disease caused in part by head injury. The brain changes from CTE can only be seen at autopsy. Researchers want to test a new brain scan to help diagnose CTE in living patients. Objective: - To determine if a new type of brain scan can detect changes that occur in chronic traumatic encephalopathy. Eligibility: - Adults age 18 60 with previous head injury or participation in certain sports. Design: Participants will be screened with: Physical exam Blood and urine tests Tests of thinking, mood, and memory 30-minute magnetic resonance imaging (MRI) brain scan. A magnetic field and radio waves take pictures of the brain. Participants will lie on a table that slides into a metal cylinder. They will get earplugs for the loud knocking sounds. Visit 1: Participants will have a 70-minute PET scan of the brain with a small amount of a radioactive chemical. That will be injected through an intravenous tube (catheter) in each arm. A catheter will also be put into an artery at the wrist or elbow. Participants will lie on a bed that slides in and out of a donut-shaped scanner. A plastic mask may be molded to their face and head. Vital signs and heart activity will be checked before and during the scan. Blood and urine will be taken before and after the scan. Participants will be checked on by phone the next day. Visit 2: Participants will repeat Visit 1 with a different chemical and no artery catheter. Visit 3: Participants may have a spinal tap. Some fluid will be removed by needle between the bones in the back.
Autoregulation Assessment During Liver Transplantation
Liver FailureLiver Transplantation1 morePatients with liver failure undergoing liver transplantation often have clinical or sub-clinical encephalopathy that may lead to increased intracranial pressure. The latter may lead to abnormal regulation of blood flow to the brain (cerebral autoregulation) complicating patient management during and after general anesthesia. The current methods for monitoring for elevated intracranial pressure are invasive and, thus, limited to severe encephalopathy. In this study the investigators will evaluate the potential utility of monitoring cerebral blood flow (CBF) autoregulation non-invasively using near infra-red spectroscopy in patients undergoing liver transplantation.
Cerebrovascular Reactivity in Hepatic Encephalopathy
Hepatic EncephalopathyIt has been observed that patients with cirrhosis present a generalized state of vasoconstriction as an homeostatic response to splanchnic arteriolar vasodilatation. On progression of the disease, vascular regulation is mismatched, causing altered systemic blood flow and lose in the cerebrovascular reactivity. The investigators hypothesize that the altered cerebrovascular reactivity induces neurological disturbances related to hepatic encephalopathy and, therefore, the existence of a correlation between cerebrovascular reactivity and the stage of hepatic encephalopathy.
A Study of the Genetic Analysis of Brain Disorders
HoloprosencephalyA study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE). This malformation of the brain can result from either environmental or genetic causes, and it is the aim of these investigations to determine the genes responsible for both normal and abnormal brain development through the study of patients with this disorder. Mutations in one such gene, Sonic Hedgehog, have been shown by us to be responsible for approximately one quarter of familial cases of HPE. Other genes either related to the hedgehog pathway or located at unrelated defined genetic loci may also contribute to HPE and are the subject of active investigation. We anticipate that many genes important for normal brain development will be identified in the search for genetic causes of HPE.
Brain Energy Metabolism in Patients With Chronic Liver Disease and Impaired Central Nervous System...
CirrhosisHepatic EncephalopathyThe purpose of the current study is to look into the pathogenesis of a severe medical condition causing acute episodes on the central nervous system as seen in majority of patients with liver cirrhosis.
The Predictors of ICU Admission of oPRES
Posterior Reversible Encephalopathy SyndromeIntensive Care UnitsThe purpose of this study is to explore the predictors of ICU admission of obstetric posterior reversible encephalopathy syndrome.
Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies...
Dravet SyndromeEpileptic Encephalopathies Associated With SCN1A MutationsThis is an expanded access use of Stiripentol in Dravet Syndrome or epileptic encephalopathies associated with sodium channel mutations who have failed other drugs in an effort to give them the best chance at seizure control and quality of life. As a treatment protocol and not a research study, children will only be monitored on a clinical basis for seizure improvement and side effects predominantly by parent and caregiver report.
Developmental Outcomes
Hypoxic-Ischemic EncephalopathyDetermine whether the concentrations of UCH-L1 and GFAP measured in umbilical cord blood and in blood 0-6 hours postnatal accurately predict the extent of neurodevelopmental deficits and/or death at 18-20 months.
Determining Prevalence of Acute Bilirubin Encephalopathy in Developing Countries
Hyperbilirubinemic EncephalopathyThe investigators hypothesize that a new BIND (Bilirubin Induced Neurologic Dysfunction) scoring method adapted for the developing world (BIND II, developed by our team for use by health care workers), with additional modifications for community use (the community BIND, C-BIND), will improve the ability to identify infants with ABE and to distinguish ABE from other common causes of neonatal morbidity and mortality compared to currently available survey tools.