Evaluation of Fanconi Syndrome and Cystinosis
CystinosisFanconi SyndromeOBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk...
Sudden Infant Death SyndromeApneaOBJECTIVES: I. Assess and compare the incidence and severity of cardiorespiratory events documented by home monitoring in infants at increased epidemiological risk for sudden infant death syndrome (SIDS). II. Determine the antecedent medical, demographic, physiologic, and behavioral characteristics that predict the incidence of cardiorespiratory events documented by home monitoring.
Brain Activation in Vocal and Motor Tics
Tourette's SyndromeChronic Motor Tic Disorder1 moreThis study will investigate the brain areas that are activated by vocal and motor tics in patients with Tourette's syndrome and other tic disorders. Tics are involuntary repetitive movements similar to voluntary movements. They may be simple, involving only a few muscles or simple sounds, or complex, involving several groups of muscles in orchestrated bouts. This study will involve only simple motor tics, such as eye blinking, nose wrinkling, facial grimacing and abdominal tensing, and simple vocal tics, such as throat clearing, sniffing and snorting. Healthy normal volunteers and patients between 14 and 65 years of age with simple motor or vocal tics may be eligible for this study. Participants will have a brief medical history and physical examination and magnetic resonance imaging (MRI) of the brain. MRI uses a magnetic field and radio waves to produce images. For the procedure, the subject lies on a table that is moved into a cylindrical chamber containing a strong magnet. Earplugs are worn to muffle the loud thumping sounds made by electrical switching of the radio frequency circuits and protect against temporary hearing impairment. During the scan, normal volunteers will be asked to make simple movements or sounds designed to imitate tics, such as raising eyebrows, blinking or coughing. Patients with tic disorders will have two parts to the scanning session. First they will relax and allow tics to occur spontaneously, then they will be asked to imitate a specific tic when there is no urge to tic. Patients and healthy subjects will have electromyography (EMG) to record the timing of the voluntary movements and tics. For this procedure, several pairs of small, saucer-like electrodes are attached to the skin with a gel or paste. Electric signals from the electrodes are amplified and recorded on a computer. A microphone may be placed near patients to record any vocal tics. A video camera may also be used to record the tics.
Cause of Pigment Dispersion Syndrome
GlaucomaHealthy1 moreThe purpose of this study is to learn how pigment is released from the iris (the colored part of the eye) in patients with pigment dispersion syndrome. It will do this by examining the response of the pupil (the central opening of the iris) to a flash of light to determine what is happening in the iris to cause release of the pigment. In pigment dispersion syndrome, pigment released from the iris is deposited in other parts of the eye, including the trabecular meshwork-a filter-like tissue in the front of the eye. Aqueous fluid (fluid continuously produced by the eye) normally flows out of the eye through the trabecular meshwork. In some patients, the pigment deposits may block tiny holes in the meshwork, preventing the fluid from flowing out. This can cause an increase in eye pressure that may lead to glaucoma and some loss of vision. Understanding how pigment is released from the iris may help predict the course of pigment dispersion syndrome and identify which patients will likely develop increased eye pressure. Patients with pigment dispersion syndrome and normal volunteers may be eligible for this study. All participants will have the following procedures, which will be completed in two clinic visits: First visit Examination of the front of the eyes, including the cornea, iris and lens. Vision testing and measurements of visual field and eye pressure. Examination of the trabecular meshwork. For this test, a contact lens is placed on the eye after the eye has been numbed with anesthetic drops. Second visit Refraction (dilation of the pupils with drops) and examination of the back of the eyes, including the optic nerve. Reaction of the pupils to low-level infrared light (pupillography). During this 15-minute test, the patient or volunteer wears a lightweight headband with two small cameras mounted on it. The cameras-one which views the eye and the other the subject's field of view-record pupil dilation and position. The test results in patients with pigment dispersion syndrome will be compared with those in normal volunteers. Patients will be followed every 6 months (or more often, if medically indicated) during the 3-year study to determine changes in eye pressure or visual field. Volunteers will be asked to return about once a year for 3 years for repeat pupillography.
Anti-IL6 and Corticosteroid Monotherapy vs Combination in COVID-19
Critical IllnessCorona Virus Infection1 moreThe cytokine storms mediated by over production of proinflammatory cytokines have been observed in a large population of critically ill patients infected with COVID-19. Patients diagnosed with cytokine storms progress to cardiovascular collapse, multiple organ dysfunction and death rapidly. Therefore, early identification, treatment and prevention of the cytokine storms are of crucial importance for the patients. Immuomedulator such as interleukin-6 (IL-6) antagonist, emerged as an alternative treatment for COVID-19 patients with a risk of cytokine storms recently. In this study, we aimed to evaluate the safety and efficacy of anti-IL6 alone vs anti-IL6 corticosteroid combination in patients with COVID-19 pneumonia
The Effect of Bariatric/Metabolic Surgery on GFR
Metabolic SyndromeThe purpose of this study is to determine the change in kidney function and blood pressure after gastric bypass versus conventional medical therapy in morbid obesity. The study mainly focus on glomerular filtration rate(GFR) with known relation to the renal function and 24 hours ambulatory blood pressure monitoring after intervention of gastric bypass or medical treatment.
Appropriateness of Coronary Angioplasty in PAtients With isCHEmic Heart Disease
Non ST Elevation Acute Coronary SyndromesStable Coronary Syndromes2 moreAn observational, retrospective, multicenter, blinded adjudication study to evaluate the clinical appropriateness of Percutaneous Coronary Intervention (PCI) indication and execution in patients with stable Coronary Artery Disease (CAD) and in patients with acute coronary syndrome without ST-segment elevation (NSTE-ACS) (ratio 4:1). Half of the included patients will be diabetic. Also the implementation of selected, key guideline recommendations will be examined. At least 400 patients will be retrospectively selected among 22 Catheterization Laboratories in Italy in the region of Lombardia and Veneto. This study will be conducted in compliance with Good Clinical Practices (GCP) including the Declaration of Helsinki and all applicable regulatory requirements.
Efficacy of Rifaximin to Treat Diarrhea-predominant Irritable Bowel Syndrome
Irritable Bowel SyndromeIrritable bowel syndrome (IBS) is a common disease and the pathogenesis of this disease includes central and peripheral mechanisms. In recent years, there were many studies suggesting that microbiota in the intestine may play an important role in the IBS.What's more, small intestinal bacterial overgrowth (SIBO) may be an important pathogenic factor for IBS and the use of antibiotics may be beneficial. Therefore, the investigators intend to explore the efficacy of rifaximin for IBS-D in Chinese population.
Myelodysplasic Syndromes and Risk Factors for Infection
Myelodysplastic Syndrome (MDS)Infection2 moreMyelodysplastic Syndromes (MDS) are characterized by quantitative and qualitative bone marrow failure and by a disorder of the medullary production which is a pre-leukemic state which can evolve into acute myeloid leukemia. The risk of leukemic transformation is estimated by the score IPSS (International Prognostic Score System). We distinguish the MDS of low risk (IPSS<1) and those of high risk of leukemic transformation (IPSS=1,5). Besides the risk of leukemic transformation, MDS much be complicated of infections which could be life-threatening. The risk of developing first infection after the diagnosis of MDS of high risk is probably influenced by anamnestic (disease duration, comorbidities), clinical (veinous central catheter, previous hospitalization), biological (neutropenia, lymphopenia, serum ferritin) and therapeutics (demethylating agent, lenalidomide, erythropoietin, G-CSF, transfusions, anti-infectious preventive treatment) factors. Their identification will allow for improved targeting of the population which is is likely to benefit from anti-infective prophylaxis Primary objective is to identify risk factors associated with first acute episode of infection in patients with MDS, by comparing index cases and matched control cases who did not develop infection episode since diagnosis. Secondary objectives are to explore nature and severity of infectious episodes, number of recurrences during 1 year of follow up and survival at 6 and 12 months
Psychological Traits, Sexuality and Quality of Life in Patients With Polycystic Ovary Syndrome
Polycystic Ovary SyndromeA prospective assessment of psychological characteristics, quality of life and sexuality in naïve patients.