Brittle cornea syndrome 1

This study looked at how well flu vaccines (seasonal and H1N1) work in 234 adults with autoimmune diseases like lupus or vasculitis, some of whom were on steroids or immunosuppressants. Researchers measured antibody levels three weeks after each shot to see if the vaccine provide…

This study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over tim…

This study looked at 719 people, including patients with autoimmune connective tissue diseases like myositis, their blood relatives, and healthy volunteers. Researchers collected blood samples and medical histories to find genetic and environmental factors that may trigger these …

This study created a nationwide registry to track long-term results of corneal surgeries and diseases. Researchers collected images and data from 19 participants to help understand what makes corneal transplants successful. The goal is to use this information to develop AI that c…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This study measured two newer blood markers (calprotectin and serum amyloid protein) alongside standard tests in 20 children with juvenile arthritis and related conditions. The goal was to see if these markers could better track disease flare-ups in everyday clinic visits. The st…

This study tested whether a large language model (like ChatGPT) could collect medical history and suggest eye tests as well as doctors do. 172 patients with non-emergency eye problems took part. The AI's performance was compared to standard care, with senior specialists checking …

This completed study looked at 32 people with known genetic changes in connective tissue genes to better understand how these changes affect overall health. Participants underwent a range of medical tests and exams over 3-5 days. The goal was to gather information, not to test a …