An item was removed from the scale to make it valid across several countries. The modified-Rasch-Built Pompe-Specific Activity (R-PAct) scale can be a valid, disease-specific patient-reported outcome ...

A machine learning algorithm identified potential undiagnosed PNH cases using electronic health records, with a positive predictive value of 60.4%. A machine learning model has shown potential in ...

The findings underscore the need for early genetic testing and intervention strategies and significantly contribute to understanding the genetic landscape of DS in the Indian context. A total of 30 ...

Karin Hoelzer, DVM, PhD, discusses the importance of renewing the Rare Pediatric Disease Priority Review Voucher Program. In this podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, ...

The cognitive and behavioral symptoms appeared before motor symptoms in all children apart from 1. Early cognitive and behavioral symptoms appear before motor symptoms in juvenile-onset Huntington ...

Early-stage PBC patients with CSPH faced significantly worse outcomes, with splenomegaly being a key prognostic factor. According to results from a study published in the Annals of Hepatology, ...

Although rare, hemoglobinuria may result from intravascular hemolysis due to PNH and can lead to acute kidney injury. A new case has been reported of a patient with paroxysmal nocturnal hemoglobinuria ...

Patients with NMOSD-related optic neuritis had significant decreases in dynamic regional homogeneity and dynamic degree centrality in the visual regions of the brain. There is a decrease in the ...

The authors observed that healthcare utilization increased significantly in the years prior to the first symptomatic attack of patients with NMOSD. A prodromal phase could become identifiable for ...

Patients with PNH who used the device for 6 or more weeks have reported that it was "very easy" to use. Encouraging preliminary results have been observed from an ongoing study assessing the ...

Propensity score matching was used to examine the link between exposure to UDCA and COVID-19 infection. Among patients with chronic liver disease (CLD), including primary biliary cholangitis (PBC), ...

Amber Cunningham of We Are Ill talks about the difficulties of being a Black woman with multiple sclerosis (Photo by Larry Luxner) We Are Ill was started by influencer Victoria Reese, who was ...