Overgrowth syndrome

This study tested giving chemotherapy before surgery to children with Wilms tumor, a rare kidney cancer. The goal was to shrink tumors so surgeons could remove less kidney tissue, helping preserve kidney function. 249 children took part, and the approach aimed to reduce the need …

This pilot study tested the drug sirolimus in 16 people aged 3 to 65 who have excessive growth in parts of their body due to a change in the PIK3CA gene. The goal was to see if sirolimus can stop or slow that overgrowth. Researchers used MRI scans and other measures to track chan…

This study tested whether the drug benralizumab can safely reduce skin rashes caused by cancer treatments like checkpoint inhibitors. The goal was to lower the number of high-grade rashes to milder ones, which could improve quality of life and help patients stay on their cancer t…

This completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

This study followed 150 children aged 2 to 12 who have a port wine stain on a leg. Researchers tracked how the stain changes as the child grows, and whether it leads to problems like blood vessel issues or bone growth differences. The goal was to learn more about the condition an…

This study looked at whether briefly pressing on the phrenic nerve during lung surgery could help reduce complications like air leaks. Researchers compared 55 patients who had this temporary nerve compression with those who did not. They measured diaphragm activity, lung function…

This study looked at hospital records from 2015 to 2022 to find out how many people in France have a group of rare genetic conditions called PROS. Researchers counted new cases each year, described patient ages and other health problems, and estimated costs. No treatments were te…