It’s 2:25 am as I sit down to write this column. I’ve been awake for almost 2 hours and unable to go back to sleep. I had an immune thrombocytopenia (ITP) relapse, something I’ve been afraid of ...

Speakers at the panel “Unlocking the future: the convergence of AI, personalized medicine, and genomics” at the World Orphan Drug Congress USA 2025 (Photo by Riya Ajmera) Artificial intelligence could ...

After a decade of searching for an answer to what was causing progressive pain and weakness in my body, I was finally diagnosed with Pompe disease. Pompe, a rare genetic disorder, has long presented a ...

Patients with CLL and a CSHA CFS score greater than 3 had significantly higher rates of treatment interruption due to adverse effects. The CSHA Clinical Frailty Scale (CFS) is a valuable tool for ...

The most frequently mutated genes were associated with epigenetic regulatory mechanisms, namely TET2, ASXL1, and DNMT3A. Next-generation sequencing (NGS) identified 14 gene mutations with diagnostic ...

More research is needed to adequately assess the validity and utility of currently available patient-reported outcome measures in HAE. The use of some patient-reported, disease-specific quality of ...

Castleman disease and IgG4-RD have overlapping disease manifestations that can complicate the diagnostic process. A male patient initially suspected of having immunoglobulin G4-related disease ...

RASI appeared to have a direct correlation with left ventricular mass index in patients with AL-CM but not in patients with ATTR-CM The relative apical sparing index (RASI) appears to accurately ...

Autopsy results showed the patient had had previous seizure activity in the brain and cellular interstitial thickening in the lungs. Sudden unexpected death in epilepsy (SUDEP), sudden death in viral ...

The relationship between RA and AAV—two autoimmune disorders—needs further exploration. Rheumatoid arthritis (RA) is found to often precede the diagnosis of antineutrophil cytoplasmic antibody ...

Fewer than one-fifth of the study population had an alloimmunization diagnosis code in their medical record. Almost 7% of hemolytic disease of the fetus and newborn (HDFN) cases due to Rhesus ...

As key downstream effectors, PSMB1, CTSD, and CTSH may contribute to BRSK2’s effects on pulmonary fibrosis, with DNA methylation playing a crucial role in its pathogenic mechanism. Results from ...