A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental...
SCN2A-DEEEpilepsyThis prospective observational study is designed to assess the individualized baseline disease burden in pediatric participants aged 1 year to 16 years, with early-onset SCN2A-DEE by characterizing and quantifying changes in clinical features over a period of up to 12 months.
The Personalized Parkinson Project de Novo Cohort
Parkinson DiseaseParkinsonian Disorders6 moreCurrently, the Movement Disorders Society (MDS)-UPDRS scale remains the gold standard to document the outcomes in clinical trials for Parkinson's disease (PD). The MDS-UPDRS is far from infallible, as it is based on subjective scoring (using a rather crude ordinal score), while execution of the tests depends on clinical experience. Not surprisingly, the scale is subject to both significant intra- and inter-rater variability that are sufficiently large to mask an underlying true difference between an effective intervention and placebo. Digital biomarkers may be able to overcome the limitations of the MDS-UPDRS, as they continuously collects real-time data, during the patient's day to day activities. In this study the investigators are interested in developing algorithms to track progression of bradykinesia, gait impairment, postural sway, tremor, physical activity, sleep quality, and autonomic dysfunction (the latter being derived from e.g. skin conductance and changes in heart rate variability).
Optic Nerve Sheath Diameter / Eyeball Transverse Diameter Ratio and Prognosis of Sepsis Associated...
Sepsis-associated EncephalopathySepsis is associated with a mortality rate of 20-25%, with significant increase in case of associated comorbidities or shock. SAE is one of the most common forms of encephalopathy encountered in critically ill patients, with increased ICP as a possible underlying mechanism. Many studies revealed that ONSD is a valuable ICP monitoring tool. Also, ONSD/ETD ratio, according to previous studies, seemed to be more reliable than ONSD alone in predicting neurological outcomes of comatosed patients. The present study will assess the correlation between US-ONSD/ETD ratio and the prognosis of SAE in critically ill patients.
A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
SeizuresSeizure Disorder9 moreThe researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.
The International Registry for Leigh Syndrome
Leigh SyndromeLeigh Disease3 moreThe purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh syndrome allowing further characterization of this disease.
Natural History of Stroke: Cause and Development
Brain DiseaseIschemic Attack4 moreThe purpose of this study is to learn more about stroke and obtain information that may serve as the basis for future investigations. It will 1) establish a registry of patients with cerebrovascular disease (stroke); 2) characterize the natural history of acute stroke and transient ischemic attacks (TIA) an interruption of blood flow to the brain that causes stroke symptoms for a short period of time); and 3) evaluate the data to generate ideas for future studies. Patients 18 years of age or older with suspected acute stroke or TIA may be eligible for this study. Subjects will be recruited from patients who present with stroke at the emergency department of Suburban Hospital in Bethesda, Maryland. The study will gather data collected from diagnostic and laboratory tests the patient undergoes as part of standard medical care, including findings of medical and neurological examinations and other tests. In addition, studies will be done for research purposes only to gather data about stroke and TIA. These may include the following: Blood and urine tests not more than 2 tablespoons of blood will be drawn for various tests. Electrocardiogram (EKG) (heart tracing) electrodes placed on the chest wall detect the heartbeat and heart rhythm. Computed tomography (CT) scan of the head specialized X-rays are used to obtain images of the brain. Magnetic resonance imaging (MRI) of the brain a strong magnetic field and radio waves are used to produce images that provide information about the brain tissue and blood vessels. Transcranial Doppler (TCD) sound waves are used to image the arteries of the brain and neck. Echocardiogram sound waves are used to image the heart and evaluate heart function. Patients may be asked to return to Suburban Hospital for follow-up testing in 1, 3, and/or 12 months, when some of these tests may be repeated to assess changes over time
Integrated Traditional Chinese and Clinical Medicine for Chronic Hepatitis B and Its Complication...
Hepatic EncephalopathyCirrhosis2 moreHepatic encephalopathy is the most common complication after TIPS, and hepatic encephalopathy occurs in almost all portosystemic shunts. For patients with severe upper gastrointestinal bleeding or refractory ascites in the decompensated chronic hepatitis B, transjugular intrahepatic portosystemic shunt (TIPS) is a very effective treatment. However, due to the severe complications such as hepatic encephalopathy after TIPS, the clinical application of TIPS is limited. Literature studies have shown that the incidence of encephalopathy after TIPS is about 35%. TIPS reduces the portal vena blood flow into the liver by establishing a new channel. But at the same time, the toxic substances from the gastrointestinal tract and other organs do not enter the liver to detoxify, and are more likely to enter the brain, leading to hepatic encephalopathy. Moreover, studies have found that the liver and the intestine originate from the same germ layer and are closely related to each other in anatomy and function. There are a large number of microorganisms living in the intestinal tract. Normally, the intestinal tract, as the first defense of the human body, can effectively prevent bacteria and their products from entering the bloodstream. In cirrhosis and portal hypertension, blood return disorder causes intestinal damage. A series of microbes and product endotoxins such as gram-negative bacteria will enter the blood through the injury, and the toxins in the peripheral blood will enter the brain and cause hepatic encephalopathy happened. The research team's early treatment plan with integrated traditional Chinese and Western medicine proved that it greatly reduced the incidence of hepatic encephalopathy after TIPS. And improve the clinical symptoms and signs of patients with liver cirrhosis, and improve the quality of life and survival of patients.
Efficacy and Safety of Fecal Microbiota Transplant for Secondary Prophylaxis of Hepatic Encephalopathy...
Hepatic EncephalopathyDespite standard of care, the recurrence of hepatic encephalopathy remains the primary cause for readmissions in individuals with cirrhosis. Patients with cirrhosis have disturbed gut microbiota, which is exacerbated by repeated antibiotic usage. FMT is a promising therapy to restore a healthy microbiota. FMT causes change in composition of gut microbiota which will lead to increase in commensal bacterial diversity which will increase colonization resistance to pathogenic bacteria and thereby decrease the bacterial overgrowth. Healthy bacteria also increase the SCFA production in colon with is and nutrient for endothelial cells and thereby protect the endothelial integrity and decreases bacterial translocation and endotoxemia. Current standard of care mainly focuses on the treatment of precipitating factors of the HE. The goal of our open-label, randomised clinical trial is to evaluate the safety, efficacy of addition of FMT to SOC in preventing subsequent episodes of hepatic encephalopathy.
The Cohort for Patient-reported Outcomes, Imaging and Trial Inclusion in Metastatic BRAin Disease...
Brain MetastasesAdult3 moreThe incidence of brain metastases is expected to increase because of better treatments of primary tumours. Novel diagnostic and therapeutic techniques are continuously being developed, all of which need thorough evaluation before they can be implemented in clinical routine. Randomized Controlled Trials are the gold standard to do so, but they have shown many challenges, especially when applied in a cancer setting. .The 'cohort multiple Randomized Controlled Trial (cmRCT)' design is a promising design for multiple (simultaneous) randomized evaluations of experimental interventions, with potential for increased recruitment, comparability and long-term outcomes as a standard. This design will speed up the process of translating treatment innovations to the daily clinic.
Metabolic and Hemodynamic Reserve in Pediatric SCA
ChildOnly4 moreThe purpose of this research study is to better understand how blood flow and metabolism change can influence brain development in the early decades of life. SCA participants and healthy controls are age and sex-matched for comparison. Within the SCA cohort, children with infarcts may have thinner cortices than those without, reflecting a greater loss. The investigators will examine brain blood flow and metabolism using magnetic resonance imaging (MRI). The brain's blood vessels expand and constrict to regulate blood flow based on the brain's needs. The amount of expanding and contracting the blood vessels may vary by age. The brain's blood flow changes in small ways during everyday activities, such exercise, deep concentration, or normal brain growth. Significant illness or psychological stress may increase the brain's metabolic demand or cause other bigger changes in blood flow. If blood vessels are not able to expand to give more blood flow when metabolic demand is high, the brain may not get all of the oxygen it needs. In extreme circumstances, if the brain is unable to get enough oxygen for a long time, a stroke may occur. Sometimes small strokes occur without other noticeable changes and are only detectable on an MRI. These are sometimes called "silent strokes." In less extreme circumstances, not having a full oxygen supply may cause the brain to grow and develop more slowly than when it has a full supply. One way to test the ability of blood vessels to expand is by measuring blood flow while breathing in carbon dioxide. Carbon dioxide causes blood vessels in the brain to dilate without increasing brain metabolism. During this study participants may be asked to undergo a blood draw, MRI, cognitive assessments, and brief questionnaires. The study team will use a special mask to control the amount of carbon dioxide the participants breathe in.