The human gut microbiome has been associated with many health factors but variability between studies limits the exploration of effects between them. This study aims to systematically characterize the gut microbiota of various critical chronic diseases, compare the similarities and differences of the microbiome signatures linked to different regions and diseases, and further investigate their impacts on microbiota-based diagnostic models.
This single-practice prospective cohort study aims to enhance the diagnosis of cardiac amyloidosis in high-risk patients undergoing standard cardiac device implantation. By analyzing chest wall fat tissue, which is usually discarded, we aim to determine the diagnostic yield of such biopsies for amyloidosis and to develop a predictive screening model based on clinical, lab, and imaging data. The study, running from December 2023 to December 2024, expects to enroll 100 patients and may provide a new, non-invasive diagnostic avenue for this condition.
This study examines tumor tissues and blood samples to aid in the development of therapies for brain cancer and other solid tumors. Studying samples of blood and tissue from patients with glioblastoma or other solid tumor in the laboratory may help doctors understand brain tumors and better inform future treatments.
The present pilot study aims to investigate a new strategy in the liquid biopsy protocol for the diagnosis of gliomas based on the detection of circulating tumor DNA in the blood of patients with brain lesions compatible with this type of tumor. In order to increase the sensitivity of the technique, the investigators will work with raw blood samples through minimally invasive procedures. The subsequent analysis will be done with digital PCR, due to its low detection limit. The mutational results of each patient's samples will be compared with those obtained from the corresponding tissue biopsies. This step will allow the team to determine the robustness and reliability of the...
The circulating tumoral biomarkers in the blood are the object of numerous researches for several decades. The potential clinical interests of these circulating biomarkers are diagnostic, prognostic, predictive of the efficiency of targeted therapies (according to the mutational profile of the cancer), and could allow the study of the mechanisms of resistance under process. In the multiplicity of these blood potential biomarkers joins a permanent evolution of the technological means used to detect them/to quantify, as well as to estimate their clinical utility.
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
This is a retrospective, exploratory, multi-center, translational, 3 cohorts case control matched study conducted in patients harboring a solid tumor with poor prognosis who presented a long-term (case) and standard (standard) survival. Patients with: - Cohort A: metastatic pancreatic ductal adenocarcinoma - Cohort B: glioblastoma IDHwt - Cohort C: extensive small cell lung cancer This research aims to integrate data generated from clinical records, imaging, multi-omics and bioinformatics approaches to discriminate case and control and then to identify new therapeutic targets. Analyses will be performed depending on the tumor samples available with at least 3...
Background: Olfactory neuroblastoma (ONB) is a rare cancer. It grows from tissue in the upper part of the nose cavity, related to the sense of smell and can affect a person s sense of smell. Researchers want to better understand the health problems of people with ONB. This may help them design better treatment and supportive care studies. Objective: To better understand ONB-the course of the disease, tumor characteristics, response to treatments, and management of the treatment. Eligibility: People ages 3 years and older who have ONB. They must enroll in NIH studies #19-C-0016 and #18-DC-0051. Design: Participants will be screened with a medical history and...
The primary objective of the study is to create a biobank of oral smears permitting to identify the genetic locus/loci associated with an increased risk to develop meningiomas after cyproterone acetate (CPA) (Androcur®) treatment, using a GWAS approach. As the secondary objectives, the study aims: - to evaluate the importance of the genetic susceptibility. - to record the frequence of homonodependant cancers occuring in female patients with Androcur® associated meningioma and in their first-degree relatives. - to describe clinical, radiological, histological characteristics of the patients who have developed meningioma after cyproterone acetate exposure.
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen Insensitivity Syndrome (AIS) is a rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time. With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate...