View clinical trials related to Diagnoses Disease.
Filter by:Sickle cell disease is a life-threatening genetic disorder that can be effectively treated following early diagnosis via newborn screening. However, sickle cell disease is most prevalent in low-resource regions of the world, where newborn screening is rare due to the cost and logistical burden of laboratory-based methods. In many such regions, >80% of affected children die, undiagnosed, before the age of five years. A convenient and inexpensive point-of-care test for sickle cell disease is thus crucially needed. In this study we will conduct a blinded, multicenter, prospective diagnostic accuracy study of HemoTypeSC(TM), an inexpensive 15-minute point-of-care immunoassay for detecting sickle cell disease, hemoglobin C disease, and trait phenotypes in newborns, children, and adults.
Urine analysis provide a promising non-invasive liquid biopsy for diagnosis of bladder cancer. Molecular biomarkers in urine may serve as important diagnostic and prognostic indicators for bladder cancer. Many alterations of genes and proteins have been identified in the urinary for diagnosis of bladder cancer. However, not all bladder cancer patients have the same alterations due to tumor heterogeneity. Thus, to reach satisfactory sensitivity and specificity a new diagnostic molecular alteration should exists ubiquitously in cancers. Numerous studies indicate that Loss of imprinting (LOI) exists ubiquitously in cancers and precede morphological changes. The investigators will conduct a prospective evaluation of a panel of LOI changes in urine test for detection and surveillance of bladder cancer patients.
The research project investigates the incidence of the hyperintense acute reperfusion marker (HARM) in patients with transient ischemic attack (TIA) or transient neurological attack (TNA). Initially, HARM was described after acute ischemic stroke and is caused by a blood-brain barrier disorder after recanalization of an acute vessel occlusion and consecutive reperfusion. These result in a contrast agent extravasation into the subarachnoid space, which can be easily detected on fluid attenuated inversion recovery (FLAIR) images. TIA is defined as a transient focal neurological deficit with a probably cerebrovascular cause. In contrast, TNA is defined as a transient non-focal neurological deficit with multiple causes, including cerebrovascular. The clinical diagnosis of TIA is often flawed and the delineation of TIA and TNA can be difficult. MRI is the most important diagnostic method for the detection or exclusion of cerebral ischemia in patients with TIA/TNA in daily clinical practice. However, on diffusion-weighted imaging (DWI) approximately two-thirds of TIA cases and only one-fifth of TNA cases demonstrate acute cerebral ischemia. Supplementary perfusion-weighted imaging (PWI) scans can only slightly increase this percentage. The well-known HARM could prove to be complementary to DWI and PWI and close or at least reduce the existing gap. In the case of TNA in particular, this could be of clinical relevance in order to avoid mistreatment or even dismissal without further clarification after supposedly inconspicuous imaging. Therefore, the aim of this study is to record the incidence of HARM in a statistically significant number of cases of patients with TIA and TNA and to investigate relationships with symptom duration and anatomical localization. In addition, the dynamics of contrast enhancement in the subarachnoid space in TIA and TNA cases with HARM will be analyzed in detail.
Background: Dynamic balance keeps the vertical projection of the center of mass within the base of support while the center of mass moves. The age-related decrease in dynamic balance is a risk factor for falls. Dynamic balance tests are used to predict the risks for falls and eventual falls but the psychometric properties of most tests assessing dynamic balance are unsatisfactory and comprise no actual loss of balance while walking. Objectives: Using beam walking distance as a measure of dynamic balance, we will determine the psychometric properties, lifespan and patient reference values, the relationship with selected 'dynamic balance tests', and the accuracy of beam walking distance to predict falls. Methods: This cross-sectional observational study will examine healthy adults in 7 decades (n=432) at 4 centers. Center 5 will examine patients (n=100) diagnosed with Parkinson's disease, multiple sclerosis, stroke, and balance disorders. At Test 1, all participants will be measured for demographics, medical history, grip and leg strength, short physical performance battery, static balance on a force platform, and dynamic balance using beam walking (4m-long, 4, 8, and 12 cm wide) under single (beam walking only) and dual task conditions (beam walking while concurrently performing an arithmetic task). In addition, cognitive function (global cognition, attention, executive function, processing speed, memory) will be assessed. Patients and healthy participants age 50+ will be additionally measured for fear of falling, history of falls, miniBESTest, functional reach on a force platform, timed up and go, and reactive balance. At Test 2, 7-10 days after Test 1, healthy adults young and age 50+ (n=40) will be re-tested for reliability of beam walking performance. All participants age 50+ will be re-called to report fear of falling and fall history 6 and 12 months after Test 1. Conclusion: The investigators expect to find that beam walking performance vis-à-vis the traditionally used balance outcomes predicts more accurately fall risks and falls.
Malaria during pregnancy remains an important public health issue in endemic countries. Most cases of malaria in pregnant women are asymptomatic, and can contribute to adverse outcomes, such as maternal and neonatal anaemia as well as low birth weight. Infections that do not cause symptoms (sub-clinical infections) - particularly in low transmission settings -remain difficult to diagnose during pregnancy but can contribute to adverse outcomes e.g. growth restriction, premature birth, miscarriage and stillbirth. The Bill & Melinda Gates Foundation (BMGF) has supported the development of an HRP2-based high sensitivity rapid diagnostic tests (HS-RDT) that has analytical sensitivity ten times better than current RDTs and a sensitivity near 80% when compared to the 'gold standard' of quantitative polymerase chain reaction (qPCR). In this regard, the new HS-RDT may be a promising diagnostic and screening test for subclinical malaria during pregnancy. The overall aim is to compare the performance of novel high sensitivity rapid detection tests with conventional rapid diagnostic tests for Plasmodium falciparum malaria infection in pregnant women in Papua New Guinea
This pilot early phase I trial studies how well real-time optical biopsy works in improving lung cancer diagnosis in patients undergoing lung biopsy. Real-time optical biopsy using confocal microscopy may improve the ability of physicians to diagnose lung cancer and accurately differentiate cancerous and benign lesions found during computed tomography screening.
The role of MRI in the management of esophageal cancer remains unclear and poorly studied. Recent technical advances suggest that MRI may become a powerful technique for the initial assessment of esophageal cancer, but also for the evaluation of response to neo-adjuvant treatment before surgery. This imaging study will be performed prospectively and consecutively in 60 patients included over a 18-month period in patients wîth newly diagnosed esophageal cancer. The aim of this study is to assess the accuracy of MRI to visualize esophageal tumors, to assess tumor burden and potential contact with adjacent structures as well as associated lymph nodes. If chemotherapy or radio-chemotherapy treatment is indicated before surgery, we will also evaluate whether MRI helps us to better evaluate the response to this treatment in comparison to PET-scan or echo. endoscopy which are the examinations currently performed to evaluate the effectiveness of these treatments. The images of the MRI exams will be interpreted by 1 expert radiologist with no knowledge of the other imaging modalities and transmitted to the doctors in charge for possible consideration for the treatment. Patients will then be followed for one year according to clinical management standards to study the data on treatment complications and cancer progression at one year. The main risk is the administration of a gadolinium chelate-based MRI contrast product used routinely. There is also a risk that the results of the MRI may influence the treatment initially planned for example by canceling a surgical procedure.
This protocol will utilize the lymphedema indentometer, or durometer (a novel, noninvasive piece of equipment that measures skin elasticity), to better characterize disease progression in patients with lymphedema. Beth Israel Deaconess Medical Center patients who undergo treatment of lymphedema will be candidates for this noninvasive test. This device and the data it generates will help understand the incidence of lymphedema at Beth Israel Deaconess Medical Center compared to national data and the outcomes of surgical treatment of lymphedema.
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. The aim of our study was to evaluate post-traumatic stress disorder (PTSD) in patients and their families following the disclosure of sporadic NF1. Diagnosis of NF1 was retained according to NIH criteria, familial forms were excluded. The French version of the Impact of Event Scale-Revised was used for the diagnosis of PTSD.
According to the guidelines for reporting thyroid fine needle aspirations known as The Bethesda System, the category of atypical cells known as AUS/ FLUS category has an estimated rate of 5 to 15% for malignancy. This study aims to determine the rate of malignancy of this category in our institution and to evaluate the clinical outcome of the participants.