Results 211 to 220 of about 32,996 (302)
Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer +6 more
wiley +1 more source
The burden of systemic corticosteroids in patients with chronic rhinosinusitis with nasal polyps. [PDF]
Peters AT +10 more
europepmc +1 more source
ABSTRACT Alopecia areata (AA) and bullous pemphigoid (BP) are distinct autoimmune diseases, but growing evidence points to overlapping immune pathways. We present a rare case of a 71‐year‐old woman with concurrent AA and BP. She initially presented with 10 months of progressive scalp and body hair loss (Severity of Alopecia Tool [SALT] ~ 80) and nail ...
Anna Brinks +6 more
wiley +1 more source
Successful switch to tezepelumab for severe asthma and chronic rhinosinusitis with nasal polyps. [PDF]
Kai Y, Yoneyama K.
europepmc +1 more source
The majority of the patients reported that the ePRO structure was a valuable addition to the consultation, and they reported significant fewer missed topics during consultations. The qualitative analysis showed increased patient empowerment, as most were better prepared for the consultation, were more equal conversation partners and felt more heard by ...
Kira S. van Hof +5 more
wiley +1 more source
Clinical remission in chronic rhinosinusitis with nasal polyps with biologics: a premature promise? [PDF]
Gelardi M, Giancaspro R.
europepmc +1 more source
International Forum of Allergy &Rhinology, Volume 15, Issue 12, Page 1425-1428, December 2025.
Chandler Rygalski +10 more
wiley +1 more source
The nature of nasal discharge in chronic rhinosinusitis: a systematic review and meta-analysis using patient-reported outcomes. [PDF]
Kallenberger EM +9 more
europepmc +1 more source

