Articles related to RARE CONDITIONS & DISEASES

Hereditary TTP, an ultra-rare ADAMTS13 deficiency affecting roughly one in a million, is now managed with weekly recombinant ADAMTS13 infusions in a pediatric outpatient setting.

This case highlights how Rapunzel syndrome may masquerade as a functional or sensory feeding disorder and emphasizes the value of magnetic resonance enterography as a radiation-free diagnostic modality in pediatric patients with unexplained weight loss.

“We are surprised and disappointed by this FDA decision for EBV+ PTLD patients who have a significant unmet need, highlighted by tabelecleucel’s orphan drug designation and by the granting of breakthrough status.” — Dr. Cokey Nguyen, Atara CEO

“Although historically grouped together, viral-associated PCNSL subtypes are biologically distinct diseases. Each escapes immune control through a different mechanism, creating fundamentally different tumor microenvironments.” – Melinda Burgess, Researcher from the Department of Haematology at Princess Alexandra Hospital

Similar efficacy was observed in pediatric patients aged 12 years and older – demonstrating consistent treatment benefit across age groups in the pivotal trial.

Rates increased 3.7% annually with goblet cell tumors nearly five times more common in 1980 births versus 1945 births, suggesting generational risk factors.