Active clinical trials for "Syndrome"

RATIONALE: Collecting and storing samples of tissue, blood, and body fluid from patients with cancer to study in the laboratory may help the study of cancer in the future. PURPOSE: This research study is collecting and storing blood and tissue samples from patients being evaluated for hematologic cancer.

Background: Urticaria is a common itchy skin disorder that may occur spontaneously or on exposure to a physical trigger (called physical urticaria). Researchers are studying the genetic basis of a physically induced urticarial syndrome. Once called familial cold urticaria, this condition is now called familial cold autoinflammatory syndrome (FCAS). FCAS is an autoinflammatory disease, a group of inherited disorders characterized by unprovoked episodes of inflammation. Patients with FCAS often have hives, joint pain, and fever following general exposure to cold. Patients with FCAS have a mutation in a gene that makes a protein called cryopyrin. Cryopyrin seems to be involved with the production of a proinflammatory mediator called interleukin-1 (IL-1). Patients with FCAS and others with autoinflammatory syndromes have benefited from medication that blocks the effects of IL-1. Objectives: To investigate mechanisms that may cause physical hives or urticaria. To reproduce urticaria through challenge testing (procedures to test the skin for a reaction to a stimulus), followed by mast cell studies, measurement of IL-1, genetic studies, and other molecular studies to lead to a better understanding of urticaria and to design safe and more effective treatments. Eligibility: Patients between 6 months and 65 years of age with a documented history of clinically reproducible physical urticaria that triggers hives and that has been evaluated by a physician. Patients should have a letter of referral, including copies of pertinent medical history and laboratory studies, from a referring physician. Affected and nonaffected family members of such patients. Exclusion criteria include (1) the presence of conditions that may put the subject at undue risk, such as acute infection, severe thrombocytopenia (a lower than normal number of platelets in the blood), or significant cardiovascular disease; (2) any condition that would make the subject unsuitable for enrollment in this study; and (3) a history of HIV, other known immunodeficiency, or evidence of chronic Hepatitis B and/or C infection. Design: Researchers will conduct the following tests to verify which triggers cause the hives: History and physical exam to determine the relationship between the trigger and appearance of the hives. Blood samples for baseline screening (additional samples may be taken within 8 hours of triggering hives). Verification of hives using standard challenge testing. Procedures to trigger urticaria (the challenge testing) include dermatographism (stroking the skin), delayed pressure urticaria (direct pressure), cold-induced urticaria (cold exposure), cholinergic urticaria (exercise, hot water), solar urticaria (sun exposure), localized heat urticaria (direct heat exposure), aquagenic urticaria (room temperature water), and vibratory angioedema (direct vibratory stimulus exposure). Participants who have a positive history for hives and failed challenge testing (that is, hives resulted from the triggers) will be asked to provide a skin biopsy and additional bloods samples for research purposes. Participants will be asked to return to the clinic within 1 month if multiple triggers could not be verified during the initial visit, or to return for additional research evaluations, which may include a skin punch biopsy and blood sample collection. Patients may have to stay at the hospital overnight, if required to document the disease. Nonaffected family members who enroll in this protocol will provide samples for comparison with the family member who has a history of hives. Participants will receive a small financial compensation for the skin biopsy.

Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the microvasculature with von Willebrand factor-platelet-thrombic and ischemic end organ damage. The underlying patho-mechanism is a severe congenital ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motif, 13) deficiency which is the result of compound heterozygous or homozygous ADAMTS13 gene mutations. Although considered a monogenic disorder the clinical presentation in Upshaw-Schulman syndrome patients varies considerably without an apparent genotype-phenotype correlation. In 2006 we have initiated a registry for patients with Upshaw-Schulman syndrome and their family members to identify possible triggers of acute bouts of TTP, to document individual clinical courses and treatment requirements as well as possible side effects of long standing plasma substitution, e.g. alloantibody formation or viral infections.

Acute respiratory distress syndrome (ARDS) is a condition associated with hypoxemia due to noncardiogenic causes and results in high mortality. However, the epidemiology and treatment strategy for ARDS may have changed significantly due to the accumulation of a large body of knowledge, following the two-year pandemic of the novel coronavirus (SARS-CoV-2) of which the primary manifestation is ARDS. To improve the quality of ICU care that patients receive after admission to the ICU, a variety of academic societies, including the Japanese Society of Intensive Care Medicine and the Society of Critical Care Medicine, are currently developing evidence-based guidelines and consensus guidelines and statements regarding ABCDEF bundles, nutritional therapy, ICU diary. The ABCDEF bundle, nutritional therapy, and ICU diary have been developed and are being promoted for implementation in hospitals around the world. The implementation of evidence-based ICU care is strongly recommended, especially for patients with acute respiratory distress syndrome who frequently require ventilators to maintain their lives, because their patient outcomes are worse than those who were admitted to ICU with other causes. However, there is still little evidence on how the quality of ICU care (compliance rate) correlates with patient prognosis and outcomes, and there are currently no clear goals or indicators for the ICU care we should develop. This study aims to investigate the epidemiology and treatments given to the patients and evaluate the implementation of evidence-based ICU care and its association with the outcomes of patients with acute respiratory distress syndrome admitted to the ICU. The contents of mechanical ventilation settings, respiratory conditions, and the evidence-based ICU care, such as analgesia, sedation, rehabilitation, and nutrition, given to the patients will be collected in a daily basis. Aim 1: Epidemiology Aim 2: Treatments Aim 3: Evidence-based ICU care Aim 4: ARDS related Post Intensive Care Syndrome

This project aims to evaluate the efficacy and safety of the combination of glucocorticoids with tocilizumab or tofacitinib, compared to the traditional combination of glucocorticoids with cyclophosphamide in the treatment of vascular Behçet's syndrome.

Purpose: The aim of this study is to figure out how does the selection of lower-extremity biomechanical variables presented by dynamic knee valgus, tibial torsion and navicular drop may influence pain, disability, and balance in women with patellofemoral pain syndrome. Methods: Sixty-five women with patellofemoral pain syndrome will be evaluated for lower limb biomechanical variables.

The thoracic outlet syndrome is a rare but debilitating pathology, responsible for upper limb pain. Its frequency is probably underestimated because of diagnostic difficulties. This syndrome encompasses several entities including compressions of neurological, venous or arterial origin. In addition to pain, the majority of patients report fatigability and loss of strength in the upper limbs. However, the quantification of this loss of strength and fatigability has hardly been studied. In addition, the rehabilitation treatment is the first-line treatment of this pathology. It most often includes a muscle building phase. In this project, we would like to evaluate the proximal and distal force of patients presenting a thoracic outlet syndrome by comparing them to a population free from any pathology in the upper limbs. This evaluation would involve an isokinetic strength analysis of shoulder rotators at the proximal level, using an isokinetic dynamometer. At the distal level, the evaluation would be done using force clamps. In a second step, we will also be able to evaluate the effects of the reeducation on the strength and the muscular fatigability of the patients presenting a thoracic outlet syndrome.

The goal of the present study is to provide novel data to evaluate brain iron concentration as a mediator of the association between iron supplementation treatment and improvement in symptoms of ADHD and RLS in children, including PLMS. Twelve participants between the ages of 5 and 18 years will be recruited via Kennedy Krieger Institute's Sleep Disorders Clinic. Eligible participants will be asked to complete, at baseline (pre-iron supplementation treatment) and again at follow-up (post-treatment): 1) a 7 Tesla MRI scan, 2) five consecutive nights of RestEaZe™ monitoring, 3) caregiver-reported (or patient-reported if over the age of 10 years) Cambridge-Hopkins Restless Leg Syndrome questionnaire(CH-RLSq13), and 4) caregiver-reported ADHD Rating Scale-5. The treatment interval will be 3 months.

Pediatric blood cancer is the most common childhood malignancy. Despite its survival has been substantially improved, children still have to pay a high price for numerous distressing symptoms resulted from chemotherapy. Previous studies related to symptom experiences mainly focus on individual symptoms, rather than on multiple symptoms. Understanding these distressing symptoms may help healthcare professionals to develop appropriate and effective interventions with the aims of alleviating symptom severity and thus promoting the child's psychosocial well-being and quality of life.

The purpose of this research study is to learn how cancer care providers can help their patients communicate the need for genetic testing in families with inherited cancer syndromes.