Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria.

Background: Phospholipase Cγ2 (PLCγ2) is an important signaling molecule that receives and transmits signals from various cell surface receptors in most hematopoietic lineages. Variants of PLCG2 cause PLCγ2-associated immune dysregulation (PLAID), a family of conditions classified by mutational effect. PLAID with cold urticaria (PLAID-CU) is caused by in-frame deletions of PLCG2 that are dominant negative at physiologic temperatures but become spontaneously active at subphysiologic temperatures.

Pemphigus Vulgaris With Esophageal Involvement in an Atopic Child Successfully Treated With Dupilumab.

We report the case of a 3-year-old boy who was diagnosed with childhood pemphigus vulgaris having developed oral lesions, gastrointestinal symptoms with esophageal involvement, and failure to thrive. He had a markedly increased total serum IgE level and peripheral blood eosinophilia. The pemphigus was recalcitrant to conventional therapies and, based on the coexisting characteristics of Th2 immune deviation, he was treated with dupilumab and has had sustained clinical improvement since starting treatment.

The effects of pre-operative anti-osteoporotic use on total joint arthroplasty complications: A national database study.

Background: The current study aims to analyze the effect of pre-operative non-bisphosphonate anti-osteoporotic drugs on complication and revision rates following total joint arthroplasty (TJA).

Methods: A retrospective cohort analysis of the PearlDiver (PearlDiver Technologies, Colorado Springs, CO) database was performed. The database was queried to identify all patients who underwent total hip arthroplasty (THA) or total knee arthroplasty (TKA) with history of hip or knee osteoarthritis and either osteopenia or osteoporosis.

Prolonged STAT1 signaling in neurons causes hyperactive behavior.

The interferon (IFN)-induced STAT1 signaling pathway is a canonical immune pathway that has also been implicated in regulating neuronal activity. The pathway is enriched in brains of individuals with autism spectrum disorder (ASD) and schizophrenia (SZ). Over-activation of the STAT1 pathway causes pathological transcriptional responses, however it is unclear how these responses might translate into behavioral phenotypes.

Angiotensin II receptor blockers and their applications in orthopaedic surgery and musculoskeletal medicine.

Angiotensin II receptor blockers (ARBs) are commonly prescribed for hypertension and heart failure, and have well-described antifibrotic properties throughout medical literature. The etiology and pathogenesis of fibrosis is biologically complex with a multitude of factors playing a role in the process. Consequently, pathologic fibrosis may be significant within orthopaedics contributing to post-operative stiffness and, ultimately, negative patient outcomes.