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CONCLUSION: This case is a reminder to all forensic and clinical pathologists that an extremely uncommon manifestation can occur; therefore, a meticulous approach should always be adopted before corroborating a cause of death, especially in young individuals. The relationship between both conditions in this case remains uncertain; however, PKD may represent an associated finding and possibly a predisposing factor rather than a direct causal mechanism. The co-occurrence of both pathologies raises...

Kartagener's syndrome (KS) is a rare, typically autosomal recessive ciliopathy and a subtype of primary ciliary dyskinesia (PCD), characterized by situs inversus, bronchiectasis, and chronic sinusitis. KS accounts for approximately 50% of PCD cases and results from impaired motile cilia function. Defective embryonic nodal ciliary beating leads to stochastic left-right axis determination and situs abnormalities. Although numerous genes have been implicated in PCD, up to 30% of cases remain...

Fibrosis complicates numerous rheumatic diseases and accounts for considerable morbidity and mortality. Developing more effective treatments will require a deeper understanding of fibrosis. Discoveries over the past decade implicate the ubiquitous cellular organelle primary cilium in modulating tissue repair in health and disease. In particular, emerging evidence shows that dysregulated function of primary cilia might have a previously unrecognized pathogenic role in fibrosis across multiple...

Loss of primary cilia is common in cancer, but its relevance to molecular subtypes of muscle-invasive bladder cancer (MIBC) is unclear. Here, we combined transcriptomic and co-expression analyses with experiments in bladder cancer cell lines, human tumor specimens, and xenografts to investigate the basis of cilia loss in basal MIBC. Primary cilia were less frequent in basal than in luminal MIBC. Depletion of IFT88 reduced ciliogenesis and increased cell proliferation and migration. Conversely,...

Poly(lactic acid) microplastics (PLA-MPs) have been widely regarded as alternatives to conventional plastics, but their cellular effects on marine filter-feeders remain poorly understood. In this study, single-cell RNA sequencing (scRNA-seq) was used to resolve the early gill responses of Hong Kong oyster (Crassostrea hongkongensis) after 7 days of UV-aged PLA-MPs exposure at two different concentrations. PLA exposure triggered significant dose remodeling along the mucus-cilia-humoral immune...