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Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an inflammatory disorder of childhood classically characterized by recurrent fevers, pharyngitis, stomatitis, cervical adenitis, and leukocytosis. While the mechanism is unclear, previous studies have shown that tonsillectomy can be a therapeutic option with improvement in quality of life in many patients with PFAPA, but the mechanisms behind surgical success remain unknown. In addition, long-term clinical follow-up is lacking. In our tertiary care center cohort, 62 patients with PFAPA syndrome had complete resolution of symptoms after surgery (95.3%). Flow cytometric evaluation demonstrates an inflammatory cell population, distinct from patients with infectious pharyngitis, with increased numbers of CD8+ T cells (5.9% vs. 3.8%, p < 0.01), CD19+ B cells (51% vs. 35%, p < 0.05), and CD19+CD20+CD27+CD38-memory B cells (14% vs. 7.7%, p < 0.01). Cells are primed at baseline with increased percentage of IL-1β positive cells compared to control tonsil-derived cells, which require exogenous LPS stimulation. Gene expression analysis demonstrates a fivefold upregulation in IL1RN and TNF expression in whole tonsil compared to control tonsils, with persistent activation of the NF-κB signaling pathway, and differential microbial signatures, even in the afebrile period. Our data indicates that PFAPA patient tonsils have localized, persistent inflammation, in the absence of clinical symptoms, which may explain the success of tonsillectomy as an effective surgical treatment option. The differential expression of several genes and microbial signatures suggests the potential for a diagnostic biomarker for PFAPA syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Recurrent salivary gland swelling of the parotid and submandibular glands results in painful swelling in the pediatric population. There is no defined algorithm for workup and treatment of these disorders, resulting in wide heterogeneity and in some cases overuse of computed tomography (CT) imaging. Sialendoscopy (SE) is an interventional option for recurrent swelling of both glands; however, its effectiveness in the pediatric population is still being determined. Objectives: To assess preoperative imaging utilization and benefit in the workup of recurrent pediatric sialadenitis, intraoperative SE findings, and postoperative outcomes after intervention with SE. Methods: Case-series with a 5-year retrospective chart review on children undergoing SE for recurrent sialadenitis. Results: Forty-nine SE procedures were performed on 38 parotid glands (PG) and 11 submandibular glands (SMGs) in 29 children. CT imaging findings were useful for identifying a stone or stricture and guiding surgical management in 45.5% of SMGs versus 2.6% of PGs (P < .001). A stone was found in 45.5% of SMGs and none in PG (P < .001). SE intervention such as balloon dilation or stone removal was performed in 54.6% of SMGs and 5.3% of PGs (P < .001). 74% of parotid patients undergoing SE responded to 1 intervention with a cessation of recurrent gland swelling, while 26% required additional interventions. One hundred percent of SMG patients responded to first intervention. There was no improvement in the beneficial effect of SE with steroid injection (P = .897) regardless of steroid used (P = .082). Conclusion: CT findings were found to be low yield for recurrent parotid swelling, and ultrasound is a recommended first-line step for PG pathology. SE is a recommended first-line intervention for SMG and parotid sialadenitis as demonstrated by 100% and 74% response rate to initial SE, respectively. [ABSTRACT FROM AUTHOR]

Recurrent respiratory papillomatosis (RRP) is mainly caused by human papillomavirus (HPV) 6 and 11. While various adjuvant therapies have been reported, no effective therapy has been documented to universally "cure" this disease. In the era of precision medicine, it would be valuable to identify effective intervention based on drug sensitivity testing and/or molecular analysis. It is essential to be able to successfully carry out in vitro culture and expand tumor cells directly from patients to accomplish this goal. Here we report the result of successful culture of HPV-infected cell lines (success rate 70%, 9/13) that express the E6/E7 RNA transcript, using pathologic tissue biopsies from patients treated at our institution. The availability of such a system would enable ex vivo therapeutic testing and disease modeling. [ABSTRACT FROM AUTHOR]

Recurrent respiratory papillomatosis (RRP) is a potentially lethal disease caused by the human papillomavirus (HPV) and characterized by recurrent papillomas in the aerodigestive tract. BEST PRACTICE SUMMARY Administration of systemic bevacizumab earlier in the RRP disease process may provide the benefit of decreased disease progression in addition to minimizing surgical sequelae. Currently, the mainstay of RRP treatment is via surgical intervention, with a minority of patients requiring adjuvant medical therapies during their disease. [Extracted from the article]