Heterozygous Alterations of TNFRSF13B/TACI in Tonsillar Hypertrophy and Sarcoidosis

TNFRSF13B/TACI defects have been associated with CVID pathogenesis and/or phenotype, especially the development of benign lymphoproliferation and autoimmunity. Our purpose was to investigate the role of TNFRSF13B/TACI defects in the pathogenesis of two common lymphoproliferative disorders, namely, sarcoidosis and tonsillar hypertrophy (TH). 105 patients (71 with sarcoidosis and 34 with TH, including 19 without infectious causative and 15 due to Haemophilus influenzae) were analyzed for TNFRSF13B/TACI defects. Two out of 19 TH patients without infectious cause (10.5%) and 2 patients with sarcoidosis (2.8%) displayed rare TNFRSF13B/TACI defects (I87N, L69TfsX12, E36L, and R202H, resp.). Both mutations identified in TH patients have been assessed as deleterious for protein function, while the patient with the R202H mutation and sarcoidosis exhibited also sIgG4D. Our study further supports the notion that TNFRSF13B/TACI defects alone do not result in CVID but may be also found frequently in distinct clinical phenotypes, including benign lymphoproliferation and IgG subclass deficiencies

Hemangiopericytoma of the neck

Hemangiopericytoma (HPC) is an exceedingly rare tumor of uncertain malignant potential. Approximately 300 cases of HPC have been reported since Stout and Murray described HPCs as "vascular tumors arising from Zimmerman's pericytes" in 1942. After further characterization, the WHO reclassified HPC as a fibroblastic/myofibroblastic tumor. Long term follow up is mandatory because the histologic criteria for prediction of biologic behavior are imprecise. There are reports of recurrence and metastasis many years after radical resection. The head and neck incidence is less than 20%, mostly in adults

Herpes viruses and human papilloma virus in nasal polyposis and controls

ABSTRACT INTRODUCTION: Chronic rhinosinusitis with nasal polyps is a multifactorial disease entity with an unclear pathogenesis. Contradictory data exist in the literature on the potential implication of viral elements in adult patients with chronic rhinosinusitis. OBJECTIVE: To compare the prevalence of human herpes viruses (1-6) and Human Papilloma Virus in adult patients with chronic rhinosinusitis with nasal polyps and healthy controls. METHODS: Viral DNA presence was evaluated by real-time polymerase chain reaction application to nasal polyps specimens from 91 chronic rhinosinusitis with nasal polyps patients and nasal turbinate mucosa from 38 healthy controls. RESULTS: Epstein-Barr virus positivity was higher in nasal polyps (24/91; 26.4%) versus controls (4/38; 10.5%), but the difference did not reach significance (p = 0.06). Human herpes virus-6 positivity was lower in nasal polyps (13/91; 14.29%) versus controls (10/38; 26.32%,p = 0.13). In chronic rhinosinusitis with nasal polyps group, 1 sample was herpes simplex virus-1-positive (1/91; 1.1%), and another was cytomegalovirus-positive (1/91; 1.1%), versus none in controls. No sample was positive for herpes simplex virus-2, varicella-zoster virus, high-risk-human papilloma viruses (16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59) and low-risk-human papilloma viruses (6, 11). CONCLUSION: Differences in Epstein-Barr virus and human herpes virus-6 positivity among patients with chronic rhinosinusitis with nasal polyps and healthy controls are not statistically significant, weakening the likelihood of their implication in chronic rhinosinusitis with nasal polyps pathogenesis

Tonsilloplasty Versus Tonsillectomy in Children With Sleep-Disordered Breathing: Short- and Long-Term Outcomes

Objectives/Hypothesis: Adenoidectomy and tonsillectomy (TE) is the standard treatment for obstructive sleep-disordered breathing (SDB) in children with adenotonsillar hypertrophy. Tonsilloplasty (TP) is a new surgical technique that includes partial TE. The purpose of this study was to assess the short-and long-term outcomes of TP compared to TE. Study Design: A comparison study. Methods: Children with SDB and tonsillar hypertrophy underwent TP or TE. The two groups were compared regarding immediate postoperative course and long-term effects. Results: Fifty-one children (age, 6.3 +/- 2.5 years) underwent TE, and 50 children (age, 5.9 +/- 2.1 years) had TP. The TP group had significantly less intraoperative bleeding compared to the TE group (25.6 +/- 8.2 vs. 38.3 +/- 12.3 mL, P < .001). Subjects with TP were pain free earlier than children with TE (4.5 +/- 0.4 vs. 7.7 +/- 0.4 days, P < .001) and returned to a normal diet sooner (3.8 +/- 0.2 vs. 7.1 +/- 0.3 days, P < .001). By the 3rd to 4th postoperative night, upper airway obstruction was relieved in all participants. Six years postoperatively, 48 of 51 children in the TE group and 43 of 50 children in the TP group participated in a telephone survey. No significant differences were found between the two groups regarding the frequency of recurrent snoring (30.2% in TP vs. 25% in TE), apneas (4.7% vs. 0%), and upper airway infections per year (P > .05). Conclusions: TP is an alternative surgical method for treatment of SDB related to tonsillar hypertrophy with favorable postoperative course and comparable long-term results

Toll-Like Receptor 4 Gene (TLR4), but Not TLR2, Polymorphisms Modify the Risk of Tonsillar Disease Due to Streptococcus pyogenes and Haemophilus influenzae▿ †

Tonsillar disease (recurrent tonsillitis and/or tonsillar hypertrophy) is one of the most common human disorders, with Streptococcus pyogenes (group A beta-hemolytic streptococcus [GAS]) and Haemophilus influenzae representing the most common pathogens. Until now, no study has investigated why some individuals are more susceptible to tonsillar infections caused by specific bacteria than others. The aim of this study was to uncover possible associations between common Toll-like receptor gene (TLR) polymorphisms and tonsillar disease. The TLR2-R753Q, TLR4-D299G, and TLR4-T399I polymorphisms were determined in a cohort of 327 patients subjected to tonsillectomy due to recurrent tonsillitis (n = 245) and tonsillar hypertrophy (n = 82) and 245 healthy bone marrow donors. Associations of the aforementioned polymorphisms with the isolated bacterial strains after tonsillectomy were also investigated. Interestingly, carriers of the TLR4 polymorphisms displayed an approximately 3-fold increased risk for GAS infections (for TLR4-D299G, odds ratio [OR] = 2.81, 95% confidence interval [CI] = 1.16 to 6.79, P = 0.038; for TLR4-T399I, OR = 3.01, 95% CI = 1.29 to 7.02, P = 0.023), and this association was more profound in patients with recurrent tonsillitis. On the contrary, the presence of the TLR4-T399I polymorphism was associated with a 2-fold decreased risk of Haemophilus influenzae carriage (OR = 0.38, 95% CI = 0.15 to 0.96, P = 0.038). In the end, no significant differences were observed, considering the genotype and allele frequencies of the above-mentioned polymorphisms, between patients and controls. Our findings indicate that, regarding tonsillar infections, TLR4 polymorphisms predispose individuals to GAS infection, while they are protective against Haemophilus influenzae infection. This result further elucidates the role that host immune genetic variations might play in the susceptibility to common infections and tonsillar disease