Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

This study tested whether tranexamic acid, a drug that helps blood clot, can lower the chance of infection after gastrointestinal surgery. Over 3,300 adults at higher risk for complications took part. The goal was to see if the drug reduces surgical site infections compared to a …

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 tested two types of endoscopes used in ERCP, a procedure to treat bile duct and pancreas problems. One scope had a single-use plastic cover on its tip, while the other was a standard reusable scope. Researchers compared how well each worked and how often complications …

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 tested a 12-week online mind-body program for adults with chronic conditions like heart failure, cancer, and liver disease. The program included mindful movement, meditation, breathwork, and coping skills. Researchers measured changes in anxiety, depression, fatigue, a…

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 completed observational study at Uşak University examined 150 adults hospitalized in the endocrinology department. Researchers measured breathing, muscle strength, pain, fatigue, sleep quality, physical activity, balance, and nerve function. The goal was to better understand…

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…