Active clinical trials for "Syndrome"

Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are not inherited but occurs during embryogenesis leading to somatic mosaicism. Owing to the variability of the clinical presentation, their exact prevalence is yet unknown. In order to answer this question, the investigators team create here the first French national registry on overgrowth syndromes.

Acute respiratory distress syndrome accounts for 23% of mechanically ventilated patients and is associated with high mortality rate. Although life-saving, mechanical ventilation may worsen lung injury through two main mechanisms: lung overdistension and atelectrauma. Indeed, the cyclic opening and closure of airways during tidal ventilation may cause lung and bronchial injuries as suggested by animal models and autopsy findings. Complete airways closure has recently been described in 40% of patients with acute respiratory distress syndrome, and setting positive end-expiratory pressure above the airway opening pressure may limit atelectrauma. However, animal and mathematical models suggest that above the airway opening pressure, more distal airways open unevenly according to their own opening pressure, resulting in an "avalanche"-like phenomenon during lung inflation. This phenomenon has never been described in humans. A better understanding of the opening of airways in acute respiratory distress syndrome may help to limit ventilation-induced lung injury and to improve outcomes.

Polish registry of takotsubo syndrome

The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1. The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview. The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.

Systemic transthyretin amyloidosis is an aging-related disorder. It is usually associated with cardiac disease but also extends to other organs. Recent studies found that idiopathic carpal tunnel syndrome patients may have amyloid deposition in tenosynovial tissue. The main aims of this project are the characterization of the association between idiopathic carpal tunnel syndrome and transthyretin amyloidosis and its evaluation as a predictive factor of cardiac amyloidosis

Sarcopenia or the loss of skeletal muscle is highly prevalent in many diseases, including short bowel syndrome (SBS). While adaptation is more likely in SBS patients with a colon-in-continuity, the consequences and underlying mechanisms are unclear. An overabundance of fecal Lactobacillus was found but not yet linked to adaptation or sarcopenia. The objectives are to study the evolution of sarcopenia and the link with intestinal adaptation in SBS.

The purpose of this clinical trial is to see if a new device (SCD) is safe and if it can reduce damage to the kidney enough to allow medications to work to improve heart and kidney function for use in patients that have moderate to severe heart failure and is at least in part due to heart failure and it not responding to standard medical therapy. The SCD is a cartridge used with a commercial hemodialysis unit. Participants will be enrolled in the clinical trial once eligibility is confirmed. In addition to clinical assessments and laboratory testing participants will have surface echocardiograms during the trial. The SCD treatment will take place for 4 hours on day 1, 3, and 5 while on hemodialysis.

Pediatric Intensive Care Unit (PICU) survival has increased substantially over the past three decades. Currently, an understanding of PICU morbidity and recovery among PICU survivors and their families is limited. Post-intensive care syndrome (PICS) consists of new or worsening impairments in physical, cognitive, or mental health status that arise and may persist after critical illness. The characteristics of PICS in children (PICS-p) are unknown. The objective of this study is to learn about pediatric recovery from critical illness to guide future intervention research to optimize child and family health.

Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more. Objective: To learn more about RASopathies, how genes and environmental factors contribute to cancer development in people with RASopathies, and the best way to find these cancers and other conditions early or prevent them. Eligibility: People of any age who have or may have a RASopathy, and their family members. Design: Participants will complete questionnaires about their personal and family medical history. Their medical records will be reviewed. Participants will give blood and urine samples. They will give a saliva or cheek cell sample. Some samples will be used for genetic testing. Participants may have a skin biopsy. Participants may have a physical exam by the RASopathies study team. They may also have exams by additional specialists, such as dentists; urologists; ear, nose, and throat doctors; and neurologists. Participants may have computed tomography of the face and mouth. They may have an ultrasound of the abdomen. They may have a bone density scan. They may have skeletal and/or spine x-rays. They may have magnetic resonance imaging of the brain, low back, chest, and/or heart. They may be photographed. Participants may have other tests, such as sleep, brain and heart electrical activity, speech and swallow, metabolism, hearing, eye, and colon function tests. Participants may sign separate consent forms for some tests. Participation will last indefinitely. Participants may be contacted once in a while by phone or mail. They may have follow-up visits.

Hypermobility Spectrum Disorder and hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) is under-recognized and poorly understood and its management is therefore not clear. The goal of this study is to better understand pain and its impact on function in the daily activities of adolescents with Hypermobility Spectrum Disorder and/or hypermobile Ehlers-Danlos Syndrome. This study will explore the presence of the pain sensitivity status after physical exercise as well as movement behaviour in adolescents with HSD/hEDS compared to a healthy control group.