A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function. [PDF]
Ruggieri AG +16 more
europepmc +1 more source
ABSTRACT Objective To assess whether antivirals are associated with a reduced incidence of uveitis following COVID‐19. Methods We conducted a multi‐institutional, population‐based retrospective cohort study of adults (≥ 18 years) diagnosed with COVID‐19 between 2022 and 2024. Patients who received antiviral agents (Paxlovid, Molnupiravir, or Remdesivir)
Hou‐Ting Kuo +14 more
wiley +1 more source
Nephrotic syndrome associated with Guillain-Barré syndrome and Sjögren syndrome: A case report and literature review. [PDF]
Guo P +4 more
europepmc +1 more source
Paraneoplastic Lupus Nephritis in a Child With Neuroblastoma Recurrence
Pediatric Blood &Cancer, Volume 73, Issue 5, May 2026.
Gabriele Mortari +9 more
wiley +1 more source
ABSTRACT Background Sjögren's syndrome (SS) is a chronic, systemic inflammatory disorder primarily characterized by dry eyes and dry mouth, often involving multiple organ systems. The disease's heterogeneous clinical presentation and the absence of non‐invasive, specific biomarkers complicate its diagnosis and prognostic assessment.
Xinyan Zhang +4 more
wiley +1 more source
Breaking barriers: A triumph in pregnancy for a patient with Sjögren syndrome: A case report. [PDF]
Hu K, Hu K, Ma S, Li R, Zhou Y.
europepmc +1 more source
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia +11 more
wiley +1 more source
Concurrent Meckel's Diverticulum and Sjögren Syndrome: A Case of Intestinal Obstruction. [PDF]
Althawadi ME +2 more
europepmc +1 more source
Diagnosing Eosinophilic Chronic Rhinosinusitis in Excised Tissue Using Optical Coherence Tomography
This study evaluated whether optical coherence tomography (OCT) can quantify eosinophils in excised sinonasal tissue and diagnose eosinophilic chronic rhinosinusitis with nasal polyps (ECRSwNP). Counts of globules resembling eosinophils on OCT images strongly correlated with eosinophils per HPF on histology, with a cutoff of 45 globules on OCT imaging ...
Ido Badash +6 more
wiley +1 more source
Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome. [PDF]
Bellia F +4 more
europepmc +1 more source

