Active clinical trials for "Syndrome"

The purpose of this study is to estimate the potential benefit of early and continued palliative care (PC) consultation on end of life issues.

Spontaneous Breathing (SB) can be potentially harmful in patient with Acute Respiratory Distress Syndrome (ARDS) during the transition phase of passive ventilation to partial ventilatory support. The application of high Positive End Expiratory Pressure (PEEP) during SB has shown to ameliorate the progression of lung injury by decreasing the TP and esophageal pressure (EP) swings and the stress / strain applied to the lung. The mechanisms proposed to be responsible for these effects are the activation of Hering Breuer reflex, the recruitment of previously collapsed tissue, the homogenization of lung and the improvement of respiratory system compliance and the impairment in the length - tension relationship of the diaphragm. If all the previously explained mechanisms have an effect on the control of inspiratory effort, a decrease in the intensity of effort is expected during an end-inspiratory occlusion in patients who will respond to high PEEP application. Based on this rationale, the investigators developed an index called "Inspiratory Ratio" (IR) to predict the response of patient's inspiratory effort to the application of high PEEP without need of esophageal manometry.

The purpose of this study is to develop a quality improvement intervention to address barriers to evidence-based acute coronary syndrome (ACS) care in northern Tanzania. Patients who presented to Kilimanjaro Christian Medical Center (KCMC) will be asked to complete a survey about barriers and facilitators of health care. In addition the survey will be administered to all providers, policymakers, and administrators participating in in-depth interviews. Data from this survey will be used to develop a quality improvement intervention that will be piloted by KCMC staff. Six months after the pilot program is implemented providers, patients, and administrators will be interviewed for their perspectives on the program.

Acute lymphoblastic leukemia (ALL) is the most common malignant disease in childhood. Today more than 90% of children and 75% of adults (18-45 years) survive ALL. The enzyme Asparaginase (Asp) is an indispensable part of the multiagent treatment of ALL. Treatment related severe acute toxicities are common. Especially in teenagers and adults, thromboembolism is one of the most common acute toxicities and may result in post thrombotic syndrome (PTS) or pulmonary hypertension. The knowledge about these late effects is limited, including for ALL patients.

A single center, prospective, one arm clinical study to assess the tolerance and effectiveness of total body irradiation and cladribine in adult patients diagnosed with AML( acute myeloid leukemia) and myelodysplastic syndromes.

The hypothesis of the OXYSED study is that the delivery of 3 months of oxygen therapy via an oxygen concentrator would reduce fatigue, pain, headaches, kinesiophobia, drug intake, dyspnea, and improve walking performance, quality of sleep and quality of life of patients with Ehlers Danlos syndrome hypermobility type (EDS / HT).

Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome. Genetic variants including T237M have been found in ROSAH Syndrome patients. Our in-house study has found that T237M mutation leads to hyperactivity of ALPK1, which may be the cause of the inflammatory syndromes found in ROSAH Syndrome patients. We hypothesize that T237M mutation ALPK1 cause ROSAH Syndrome and an ALPK1 inhibitor can be a potential therapy for treating this disease. To test our hypothesis, we designed an experiment in which ex vivo peripheral blood mononuclear cells (PBMCs) from ROSAH Syndrome patients will be exposed to a potent ALPK1 inhibitor (DF-003) or placebo. We expect to see downregulation of activated inflammatory genes, chemokine/cytokines and acute phase proteins in the ROSAH Syndrome patient samples that are exposed DF-003.

This study will evaluate the safety of AlloRx Stem Cells® in subjects with Pitt Hopkins syndrome ages 2-45 with a molecularly confirmed pathogenic mutation in TCF4 or 18q deletion including TCF4. Participants will receive mesenchymal stem cells infusions every 3 months for a year with completion of outcome measures to assess the efficacy of the product.

Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.

The ITACA study is a prospective, observational no profit registry enrolling patients with Acute Coronary Syndrome and angiographic evidence of coronary aneurysms and/or ectasia.