Active clinical trials for "Syndrome"

RED is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.

In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic Resource", NCT00575705). However, studies in the last several years have demonstrated that ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal phenotypes share numerous pathogenic features. In the current competitively- renewed Center, we have expanded this Core resource to include other hepato/renal fibrocystic diseases. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are: - Clinical Database: • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases. - Mutational Database: Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials. 3- Tissue Resource: Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders. 4- Educational Resource: Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors. All the information regarding participation in "Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource" is available at: http://www.arpkdstudies.uab.edu/.

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Following the sudden and unexpected emergence of influenza A(H1N1)pdm09 (2009 H1N1) virus, this observational study was initiated to estimate rates of morbidity and mortality and to examine predictors of severity among participants with 2009 H1N1 infection. In 2011, as surveillance indicated that 2009 H1N1 virus was co-circulating with other seasonal influenza A and B viruses worldwide, the protocol was expanded to include other influenza A subtypes and influenza B viruses. The current version of the protocol (released in August 2013) further broadens the scope of this observational study. With the recognition that novel respiratory viruses other than novel influenza A viruses, e.g., Middle East Respiratory Syndrome Coronavirus (MERS-CoV), could become prevalent and of major public health importance, the objectives of this protocol have been expanded.

Antiphospholipid antibody syndrome (APS) is characterized by the presence of antiphospholipid antibodies, which are proteins in the blood that interfere with the body's ability to perform normal blood clotting. Clinical problems associated with antiphospholipid antibodies include an increased risk for the formation of blood clots in the lungs or deep veins of the legs, stroke, heart attack, and recurrent miscarriages. It is possible that some people with APS have a genetic predisposition for developing the syndrome. This study will use a genetic strategy to identify potential inherited risk factors for the development of APS by recruiting people with APS who have family members also affected by the syndrome or by another autoimmune disorder, such as lupus or rheumatoid arthritis.

Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer. Carriers of IBMFS pathogenic variant(s) are at increased risk of cancer. The prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied. Objectives: To determine the types and incidence of specific cancers in patients with an IBMFS. To investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers. To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s). To determine the risk of cancer in IBMFS carriers. Eligibility: North American families with a proband with an IBMFS. IBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test. Fanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result. Diamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase. Dyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure. Shwachman-Diamond Syndrome: malabsorption; neutropenia. Amegakaryocytic thrombocytopenia: early onset thrombocytopenia. Thrombocytopenia absent radii: absent radii; early onset thrombocytopenia. Severe Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest. Pearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts. Other bone marrow failure syndromes: e.g. Revesz Syndrome, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia. First degree relatives of IBMFS-affected subjects as defined here, i.e. siblings (half or full), biologic parents, and children. Grandparents of IBMFS-affected subjects. Patients in the general population with sporadic tumors of the types seen in the IBMFS (head and neck, gastrointestinal, and anogenital cancer), with none of the usual risk factors (e.g. smoking, drinking, HPV). Design: Natural history study, with questionnaires, clinical evaluations, clinical and research laboratory test, review of medical records, cancer surveillance. Primary endpoints are all cancers, solid tumors, and cancers specific to each type of IBMFS. Secondary endpoints are markers of pre-malignant conditions, such as leukoplakia, serum or tissue evidence of carcinogenic viruses, and bone marrow morphologic myelodyplastic syndrome or cytogenetic clones.

Cardiac troponin is central to the diagnosis of myocardial infarction and high-sensitivity cardiac troponin (hs-cTn) assays are the preferred choice for the assessment of patients with suspected acute coronary syndrome. Since the introduction of hs-cTn assays in Europe in 2010, most hospitals have switched from contemporary sensitive cardiac troponin assays to a hs-cTn assay. The implementation of hs-cTn assays has led to an increase in the number of patients identified with myocardial injury. Although both hs-cTnI and hs-cTnT assays are recommended in current guidelines, the impact of switching from a hs-cTnI assay to a hs-cTnT assay on clinical practice is unknown. At this point, no studies have evaluated the impact of implementing sex-specific hs-cTnT thresholds on the diagnosis of myocardial infarction and outcome in clinical practice. The investigators propose to determine the proportion of patients with and without myocardial injury admitted to the hospital before and after implementation of a hs-cTnT assay and to evaluate the impact on investigations, care and clinical outcomes in consecutive patients with suspected acute coronary syndrome.

To date, there is little international data on depression and anxiety among police officers apart from studies carried out after an attack or natural disaster. At the national level, no mental health data exists for police officers, apart from those from the Paris attacks, and the work of investigators after the Strasbourg attack (article in press). During the covid crisis, in Alsace, the police, like the rest of the population, took the full brunt of the pandemic. The police, however, are part of essential professions and have not been confined, but on the contrary, have remained in contact with the population, in particular to carry out traffic controls. Studies published to date show varying mental health outcomes for essential occupations during the pandemic. The investigators hypothesize that the police officers had a feeling of being more exposed and that their mental health could be affected. For this it was decided to compare two populations of departments of similar size, but with different exposure to the pandemic: Bas Rhin and Hérault French departments

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?

This research is a clinical trial aimed at improving the gut microbiome of patients with Irritable Bowel Syndrome (IBS) through a temple stay experience. Participants in the study are expected to participate in a temple stay experience for a maximum of 8 days. During the temple stay experience, participants are required to fill out a daily symptom questionnaire related to irritable bowel syndrome and record their diet and bowel movements using a dedicated mobile application. Upon completion of the temple stay, participants will conduct an evaluation of personal satisfaction with the experience. Through this, the study aims to collect and analyze data related to the Templestay experience with the goal of improving the gut microbiome of patients with IBS.