Active clinical trials for "Syndrome"

The aim of this observational, cross-sectional study is to investigate the relationship between pain sensitization and ultrasonographic and nerve conduction studies in patients diagnosed with carpal tunnel syndrome (CTS). The main questions it aims to answer are: Can threshold values be determined ultrasonographically and electrodiagnostically in patients who develop pain sensitization? Are pressure pain threshold values and central sensitization inventory scores correlated with ultrasonographic and nerve conduction studies of the median nerve?

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.

Polish registry of takotsubo syndrome

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.

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: comorbidities medical and their impact on quality of life medication use the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene. Patients with classical LFS have a lifetime malignancy risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of cancer in this population. There are a number of important issues facing patients identified to have germline TP53 variations. First, with the advent of massively parallel sequencing, increasing numbers of patients are now being identified with a wide range of clinical phenotypes associated with germline TP53 mutations, and the natural history of these patients is less well understood. Second, surveillance for malignancy in LFS and other TP53-associated syndromes involves frequent laboratory and radiologic studies that are imperfect measures of disease onset; therefore, more specific, less invasive biomarker-driven screening methods are needed. Finally, studies to date have not yet identified whether tumors which form in LFS or other germline TP53-associated tumors have unique aberrations or signatures that could be exploited in precision medicine treatment of these patients. In order to study these important issues in LFS, this protocol will establish a TP53 Clinical Database and Biobank. The Investigator plans to use this biobank to study genotype-phenotype correlations in patients with LFS and other germline TP53-associated syndromes, mechanisms of tumor formation, and novel methods of cancer screening in this high risk population.

Hantavirus disease are zoonotic infections and remain a clinical challenge with globally increasing incidence and multiple serious outbreak situations in Europe within the last years. Hantavirus disease encompasses two clinical syndromes, hemorrhagic fever with renal syndrome (HFRS) and hantavirus cardiopulmonary syndrome (HCPS) caused by Old World and New World hantaviruses, respectively. Depending on the causative Old World hantavirus species, clinical course of HFRS can vary from mild to moderate to severe. At present, there is no specific therapy available for hantavirus disease. As the clinical course of hantavirus disease is dependent on the causing viral pathogen and as there worrisome hints that clinical course HFRS and HCPS overlap, further studies with regard to the disease course are mandatory. Furthermore, the examination of attributable mortality and costs of hantavirus disease will need to be studied on a multinational basis and therefore HantaReg will particularly use a matched case control design.

Pediatric idiopathic nephrotic syndrome (INS) is a rare disease for which the optimal therapeutic strategy has not yet been defined. A network of clinicians treating complicated forms of this disease (grouped within the Société de Néphrologie Pédiatrique, SNP) exists, but to date there is no prospective cohort following up these patients that would facilitate the development of cohort-nested trials. This absence of structured follow up makes it difficult to set up prospective studies. The main objective is to create a prospective cohort of pediatric INS patients to collect cases treated in SNP centers, to study their epidemiological characteristics, and to provide a basis for comparison for future cohort-nested trials.

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.

Shoulder pain is a common musculoskeletal system complaint, accounting for 7-34% of patients in the clinic. The most common shoulder problem is subacromial impingement syndrome (SIS). Up to 45% of individuals with SIS may have unsuccessful treatment and still complain of symptoms after 2 years. This chronicity of pain may not be fully explained by structural injuries or damage, but may be related to sensorimotor changes. Decreased corticospinal excitability and increase inhibition have been found in individuals with SIS. These central motor changes may link to alteration in pain and nociception processing and the somatosensory system, which has been found in individuals with low back pain. Hyperalgesia has been found over both affected and unaffected shoulders in patients with SIS, indicating central and peripheral sensitization. However, no study has investigated whether there are changes in the central somatosensory system. Therefore, the objectives of this proposal are (1) to investigate the corticomotor and somatosensory system in patients with SIS (2) to investigate the relationship between the corticomotor and somatosensory alterations in patients with SIS. Subjects with chronic SIS and healthy subjects were recruited, with 32 people in each group. Electroencephalography (EEG) will be used to collect somatosensory activity, including somatosensory evoked potentials, spectral analysis of EEG oscillations and event-related spectral perturbation (ERSP) of the shoulder movement. Electromyography will be used to record muscle activity. Transcranial magnetic stimulation will be used to test corticomotor excitability, including active motor threshold, motor evoked potentials, cortical silent period, and intracortical inhibition and facilitation. The pressure pain threshold will be collected by a pressure algometer on the muscles of bilateral arms and legs. Pain intensity will be assessed with the Numeric Rating Scale. Shoulder function will be evaluated with the Disability of Arm, Shoulder and Hand questionnaire. Depression will be evaluated with Center for Epidemiologic Studies Depression Scale (CES-D).