GNE myopathy

This study tested whether analyzing a patient's DNA and RNA could help doctors pick the right drug for inflammatory diseases that don't fit standard categories. 32 adults with at least two affected organs (including skin) received one of six targeted therapies based on their mole…

This study looked at whether giving the antibiotic vancomycin helps cancer patients who have diarrhea and a positive screening test for C. difficile but a negative toxin test. Only 9 patients were enrolled, far fewer than planned. Researchers measured changes in C. difficile leve…

This early-stage study tested whether adding a drug called BMS-986004 to standard immune-suppressing medicine could help prevent acute graft-versus-host disease (GVHD) in 45 adults with blood cancers or disorders receiving a stem cell transplant. GVHD occurs when donor immune cel…

This study tested whether a hydrochloric acid lock can help treat central line infections in 212 cancer and blood disease patients. The acid solution was placed in the line for 10 minutes, repeated three times, alongside standard antibiotics. The goal was to see if it reduces tre…

This study tested two different chemotherapy drugs (Treosulfan and Busulfan) given before a stem cell transplant in 106 children with serious non-cancer diseases like immune disorders, metabolic diseases, blood disorders, and bone marrow failure. The goal was to see which drug le…

This study looked at 50 patients who needed a stem cell transplant from a partially matched donor but had antibodies that could attack the donor cells. Before transplant, they received a blood purification treatment called protein A immunoadsorption to remove those antibodies, so…

This study looked at how well a new, quick finger-prick test (LumiraDx CRP) measures CRP levels compared to a standard lab test. CRP is a marker of infection, inflammation, or tissue injury. 79 adults with symptoms of these conditions took part. The goal was to see if the new tes…

This study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…

This early study tested a new radioactive tracer called 18F-FDS in 16 people with suspected bacterial or fungal infections. The tracer is designed to light up infection sites on PET/CT scans, helping doctors see exactly where an infection is. The goal was to check how the tracer …

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This study looked at whether touch-massage can reduce anxiety in people with blood disorders (like leukemia or lymphoma) who are hospitalized in a sterile, isolated room. Sixty-two patients received three massage sessions, and researchers measured their anxiety levels before and …

This study looked at how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…

This study tested a monthly online peer support group for young adults (ages 18-39) who had received a stem cell transplant. The group met for one hour over six months, led by a nurse and social worker. The goal was to see if the program was practical and helpful for reducing anx…

This study tested whether montelukast (Singulair), a common asthma drug, can reduce the number and severity of infusion reactions in people receiving monoclonal antibody treatments for blood disorders. Forty adults were given montelukast along with standard premedication before t…

This study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…

This study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This study looked for a virus called HHV6 in the skin and blood of 37 adults with blood cancers who developed a rash during hospital stays. The goal was to see if the virus is linked to the rash, which could help doctors diagnose and treat the rash more effectively. The study is …

This study looked at whether it is safe to lower the number of platelets needed before placing a central line (a special IV) in patients with blood disorders. Normally, patients get a platelet transfusion if their count is below 50, but this study tested a lower trigger of 10. Th…

This study looked at how the cells lining blood vessels (endothelial cells) might be involved in stroke-like episodes in people with Congenital Disorders of Glycosylation (CDG). Researchers took blood samples from 6 CDG patients and grew their endothelial cells in the lab to test…

This study tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…

This completed study tested whether artificial intelligence and MRI scans could help automate the planning of total marrow irradiation, a type of radiation therapy given before a bone marrow transplant for blood cancers. Researchers aimed to reduce the 10-day planning time and be…

This study looked at over 1,200 people in Denmark who had a stem cell transplant for blood diseases, some as far back as 1970. Researchers used detailed surveys to measure late effects and quality of life. The goal is to find out what medical and personal factors help survivors f…

This completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …

This completed study examined lung CT scans from 148 adults with blood diseases to identify common patterns of lung involvement. Researchers tracked how often certain radiological features appeared and counted complications. The goal was to better understand the range of lung iss…

This study looked at how many girls and young women aged 11 to 20 with chronic diseases (like diabetes or immune conditions) got the HPV vaccine, compared to those without chronic illness. Researchers reviewed records of 223 participants from a hospital in France. The goal was to…

This study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …