View clinical trials related to Disease Susceptibility.
Filter by:Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood, bone marrow, and lymph nodes. Objective: To test a drug (imatinib) in people with RUNX1 mutations that cause symptoms. Eligibility: Adults aged 18 and older with RUNX1 mutations. Healthy people without this mutation, including family members of affected participants, are also needed. Design: Participants with the RUNX1 mutation will be screened. They will have a physical exam with blood and urine tests. They will have a test of their heart function. They may need a new bone marrow biopsy: A sample of soft tissue will be removed from inside a bone. Imatinib is a tablet taken by mouth once a day, every day, at home. Affected participants in different parts of the study will take imatinib for either 28 days or up to 84 days. Participants will visit the clinic once a week for the first 28 days that they are taking the imatinib. Then they will come once every 2 weeks if they are taking the drug for 84 days. Blood, urine, and tests of heart function will be repeated. They may opt to have the bone marrow biopsy repeated after they finish their course of imatinib. Participants will have a follow-up visit 30 days after they stop taking imatinib. Participants who do not have the RUNX1 mutation will have 1 clinic visit. They will have blood tests. They will fill out questionnaires. They may opt to have a bone marrow biopsy....
Our study aimed at studying the impact of gene polymorphism of NFKBIA and PTPN22 genes on rejection episodes in liver transplant Egyptian recipients. Also assess patients' factors associated with graft rejection.
This is a multicenter, interventional, historico-prospective cohort pilot study aimed at specifying the phenotype of subjects carrying a constitutional familial DDX41 mutation, with a view to eventually publishing oncogenetic recommendations for carriers of this mutation. The main objective of the LUCID project is to assess the cumulative risk of hematological diseases (Myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) or cytopenia) as a function of age in DDX41 germline mutation carriers. This study will be carried out in two stages: Stage 1: Inclusion of index cases in an oncogenetic consultation (salivary test, completion of an health self-questionnaire and collection of contact details for the related cases). Stage 2: Proposition of participation to family members, by correspondence, and determination of carrier or non-carrier status of the constitutional familial DDX41 mutation (based on a salivary test). A maximum of 210 index case patients and 700 family member will be included in this study.
This is a Phase II study to determine the rate of stabilization or disease improvement from investigational decitabine/cedazuridine (INQOVI) treatment in subjects with BRCA1-Associated Protein-1 (BAP1) Cancer Predisposition Syndrome (CPDS) and subclinical, early-stage mesothelioma. Progression-free survival (PFS) will also be determined for treated subjects, and the treatment safety (toxicity) evaluated.
To evaluate the association of surem TRAF3IP2 levels with the atherosclerotic plaque development in human
As of 2019, the CA-SFM (Comité de l'Antibiogramme de la Société Française de Microbiologie) recommends that the letter "I" or the term "intermediate" on antibiotic antibiograms. Instead, it is recommended that the term "sensible à forte posologie" or "SFP". These recommendations have been in place since 21/01/2022 at Nancy University Hospital. Pseudomonas aeruginosa is the bacterium most affected by this change, as it has a high proportion of "high dosage" antibiotics. Staphylococcus aureus is the most widely isolated bacterium, and also impacted by the change in antibiotic susceptibility testing. The aim of this change in recommendations is to guarantee the efficacy of the proposed molecules. Main objective Evaluate the impact of the change in antibiogram recommendations in samples positive for Pseudomonas aeruginosa and Staphylococcus aureus on antibiotic therapy (prescribed dosage) Secondary objectives - Evaluate the impact of changing the way antibiograms in Pseudomonas aeruginosa and Staphylococcus aureus on antibiotic therapy (molecule prescribed). - Evaluate the impact of changing the way antibiograms on antibiotic therapy (molecule and dosage prescribed), depending on the strain identified (Pseudomonas aeruginosa or Staphylococcus aureus). - Describe the impact of changing antibiograms in Pseudomonas aeruginosa and Staphylococcus aureus on antibiotic therapy (molecule and dosage prescribed) by department.
The main objective of the study is to compare the effectiveness of moxifloxacin triple therapy with levofloxacin-based sequential therapy in terms of eradication rate, safety, and patient compliance.
Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care. After receiving genetic test results, CAYA may not accurately understand what their results mean, and parents are often unsure about talking with their CAYA about their genetic risk for cancer. By understanding how parents communicate with their CAYA, the investigators can improve future genetic education to reduce cancer risk. Primary Objectives: - Identify qualities of parent-CAYA (child, adolescent, and young adults) communication about CAYAs' genomic cancer risk, and their association with CAYAs' psychosocial and prevention outcomes. - Examine the association between sociodemographic, cancer-related, and psychosocial factors and parent-CAYA communication regarding CAYAs' genomic risk for cancer. - Identify barriers and facilitators of parent-CAYA communication regarding CAYAs' genomic risk for cancer.
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS). The name of the intervention used in this research study is: Nest portal (electronic platform for patients and clinicians)
Enterococci are Gram-positive facultative anaerobic cocci arranged in short and medium chains. Enterococci reside in the gastrointestinal tract and usually function commensally with humans. They can, however, cause several infections, such as urinary tract infections (UTIs), intra-abdominal infection, bacteremia, or endocarditis. Among many species identified, E. faecalis and E. faecium are the most common species capable of causing infection and posing a threat of antimicrobial resistance, with E. faecalis accounting for the majority of infections.