Karyomegalic interstitial nephritis

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 early-stage study tested two drugs, cabozantinib and pamiparib, together in 44 people with advanced solid tumors that had stopped responding to standard treatments. The goal was to find the safest dose and understand side effects. The drugs work by blocking certain enzymes t…

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 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 new wearable patch that collects sweat to measure sodium and creatinine levels, which are important for monitoring kidney health and dehydration. Five adults with kidney disease wore the patch while their sweat was analyzed using a special light-based techniqu…

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 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 gave 6 healthy adults a single tiny dose of labeled microplastics to track how much gets absorbed into the blood and how it leaves the body through urine and stool. Participants provided samples over 5 days. The goal is to understand basic movement of microplastics in …

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…