Thiamine-responsive dysfunction syndrome

This study tested a program that combines small loans and group support to help people with HIV in Kenya. The goal was to improve HIV medication adherence, mental health, and family relationships. 843 people took part, and the program aimed to reduce depression, anxiety, and PTSD…

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 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 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 tested whether weekly community-led group discussions could improve trust and openness to COVID-19 testing and vaccination. Fifty-seven adults from nine housing agencies took part in online meetings and completed surveys over six months. The goal was to see if peer-led…

This study tested whether weekly community-led group discussions about health topics could change how people feel about COVID-19 testing and vaccines. 49 adults from housing authority agencies took part in Zoom meetings and completed surveys over 18 weeks. The goal was to see if …

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…