TNFRSF13B/TACI Mutations in Patients with Chronic Rhinosinusitis with Nasal Polyps.

BACKGROUND: The pathogenesis of Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) remains still inconclusive. Recent studies identified an increased expression of BAFF (a B cell-activating factor) and its receptor TACI (Transmembrane Activator and cAML Interactor) in nasal polyp samples, while TNFRSF13B/TACI mutations have been found in patients with benign lymphoproliferative disorders and primary antibody deficiencies. OBJECTIVE: The aim of our study was to evaluate the possible contribution of TNFRSF13B/TACI mutations in CRSwNP pathogenesis. METHODS: Forty-four (44) patients with CRSwNP (male/female: 33/11, mean age: 52.5 years, range: 16-83) were analyzed for TNFRSF13B/TACI mutations by PCR-sequencing. RESULTS: No pathogenic TNFRSF13B/TACI mutations were identified in our cohort study of CRSwNP patients. We detected two common missense mutations (p.P251L and p.V220A), along with other common silent mutations and intronic polymorphisms in an identical prevalence to healthy control population. CONCLUSION: TNFRSF13B/TACI mutations might not play a role in the pathogenesis of CRSwNP.

Bilateral Vocal Cord Palsy as the Only Symptom of Thymoma Associated-Myasthenia Gravis.

Bilateral vocal cord paresis is a rare phenomenon caused by different underlying etiologies. Myasthenia gravis is included in this long differential diagnosis. Usually, it happens as part of a serious clinical state of a patient, that also suffers from generalized muscle weakness, diplopia, dysphagia, eyelid ptosis. In our case, a 58-year-old woman presented in the emergency room with solely dyspnea, caused by bilateral cord palsy, and that appeared to be the only symptom of thymoma associated-myasthenia gravis. Another interesting fact about this case is the quick recovery and no need for tracheostomy and intubation in the first hours of her admission to hospital.

Erythropoietin levels in children with obstructive sleep apnea.

OBJECTIVE: High serum erythropoietin (EPO) levels have been reported in adult patients with obstructive sleep apnea (OSA), however there is a lack of related literature in children with OSA. The main objective of this study was to explore the potential use of EPO as a pediatric OSA biomarker by exploring the relationship between serum EPO levels and the presence of pediatric OSA. METHODS AND MATERIALS: A prospective study was conducted on children (4-12 years old) referred for overnight PSG. Thirty (30) consecutive children with mild. 30 consecutives with moderate, and 30 consecutives with severe OSA (OSA group), as well as 30 consecutive children with AHI≤1 (non-OSA group) were recruited. Morning blood specimens after PSG studies were obtained in order to compare EPO levels. RESULTS: Finally, 115 children included for analysis. Non-OSA group consisted of 29 children (mean age: 6.93 ± 2.10) and OSA-group of 86 children (mean age: 6.78 ± 2.53). Mean EPO values for the non-OSA and OSA groups were 5.46 ± 2.29 mIU/ml and 8.33 ± 4.10 mIU/ml respectively. OSA-group had significant higher EPO levels than non-OSA (P: 0.01) while EPO levels were significantly correlated with AHI (p < 0.001). CONCLUSION: Our study showed that serum EPO levels of children with OSA are significantly higher than those without OSA and correlate significantly with AHI. These results suggest that EPO may be considered as a biomarker candidate for pediatric OSA. Since this may be the first study on the topic further research is needed.

Urine concentrations changes of cysteinyl leukotrienes in non-obese children with obstructive sleep apnea undergoing adenotonsillectomy.

OBJECTIVE: The main objective of the study was to compare preoperative to postoperative levels of urine-Cysteinyl leukotrienes (uCysLT) in children undergoing adenotonsillectomy (AT) for obstructive sleep apnea (OSA) in order to investigate whether exaggerated leukotriene activity is the cause or consequence of OSA. METHODS AND MATERIALS: A prospective study was conducted on non-obese children (4-10 years old) referred for overnight PSG. Children with moderate/severe OSA treated with AT were included. A second PSG study performed 2 months postoperatively to confirm OSA resolution, and those with residual OSA were excluded. Morning urine specimens after both PSG studies were obtained and pre-operative uCysLT levels were compared to postoperative levels. RESULTS: 27 children fulfilled the criteria and underwent a post-operative PSG study with three exclusions for residual OSA (postop-AHI>2), so the study group consisted of 24 children (mean age: 5.7 ±â€¯2.1 years). Mean preoperative and postoperative AHI was 10.96 ±â€¯5.93 and 1.44 ±â€¯0.56 respectively. Mean preop-uCysLT were 21.14 ±â€¯4.65, while after AT they significantly reduced to 12.62 ±â€¯2.67 (P < 0.01). CONCLUSION: uCysLT levels are significantly reduced after AT in non-obese children with moderate/severe OSA, suggesting that exaggerated leukotriene activity is mainly a consequence of OSA.

Herpes viruses and human papilloma virus in nasal polyposis and controls / Herpesvírus e vírus do papiloma humano na polipose nasal e controles

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.

RESUMO INTRODUÇÃO: A rinossinusite crônica com pólipos é uma doença multifatorial de etiopatogênese ainda não definida. Existem dados contraditórios na literatura sobre a implicação potencial de elementos virais na etiologia de pólipos nasossinusais. OBJETIVO: Comparar a prevalência de herpes vírus humanos (1-6) e papiloma vírus humano em pacientes adultos com rinossinusite crônica com pólipos nasais (CRwNP) e controles saudáveis. MÉTODO: A presença de DNA viral foi avaliada por PCR em tempo real, em amostras de pólipos nasais de 91 pacientes com CRwNP e na mucosa das conchas nasais de 38 controles saudáveis. RESULTADOS: A positividade do EBV foi maior nos pólipos nasais (24/91; 26,4%) do que nos controles (4/38; 10,5%), mas a diferença não foi significante (p = 0,06). O HHV-6 apresentou positividade menor nos pólipos nasais (13/91; 14,29%) do que os controles (10/38; 26,32%), (p = 0,13). No grupo CRwNP, uma amostra foi positiva para o vírus herpes simples (HSV-1) (1/91; 1,1%), e uma para citomegalovírus (CMV) (1/91; 1,1%); e nenhuma amostra foi positiva no grupo controle. Não houve amostra positiva para HSV-2, VZV, HR-HPV (16,18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59) e LR-HPV (6,11). CONCLUSÃO: Diferenças de positividade do EBV e HHV-6 entre pacientes com CRwNP e controles saudáveis não são estatisticamente significantes, enfraquecendo a probabilidade de sua implicação na patogênese da CRwNP.

Herpes viruses and human papilloma virus in nasal polyposis and controls.

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.

Cross-cultural adaptation and validation of the Greek OSA-18 questionnaire in children undergoing polysomnography.

OBJECTIVE: Translations of validated questionnaires help to compare different countries/cultures populations and establish protocols for global health. OSA-18 is a validated disease-specific questionnaire for pediatric Obstructive Sleep Apnea (OSA). Our aim was to validate OSA-18 in Greek and correlate it with polysomnography results and OSA severity. STUDY DESIGN: Prospective instrument validation study. SUBJECTS AND METHODS: OSA-18 was translated in Greek and back into English. Children undergoing polysomnography due to snoring were recruited prospectively. OSA-18 was completed by parents during the initial clinic visit (test), in the evening prior to the sleep study (retest), and 3 months postoperatively for subjects who underwent adenotonsillectomy. Internal consistency and test-retest reliability were evaluated. Validity was assessed by exploring correlations between OSA-18 and AHI, by comparing OSA-18 of OSA and non-OSA groups, and by calculating questionnaire's sensitivity and specificity for detecting OSA. Total scores of non-OSA, mild, moderate and severe OSA subgroups were compared. In OSA children who underwent adenotonsillectomy, preoperative and postoperative total scores were compared to assess responsiveness. RESULTS: Test-retest questionnaires were fully completed for 141 children. OSA-18 in Greek had good internal consistency (Cronbach's alpha 0.951 for test and 0.947 for retest) and test-retest reliability (Pearson's correlation coefficients between test and retest scores: 0.850-0.946; P<0.05). Total and subscale OSA-18 scores and AHI were significantly correlated (Spearman's correlation coefficients: 0.376-0.633; P<0.01), while children with OSA had higher total OSA-18 score than those without OSA [median (interquartile range): 61 (35) vs. 38 (22), respectively; P<0.001)]. Sensitivity was 53.4%, suggesting poor validity compared to polysomnography. All OSA severity subgroups had significant higher score than non-OSA. OSA-18 scores postoperatively were significantly lower compared to preoperatively (22.91±5.49 vs. 67.13±15.27, respectively; P<0.001), indicating good responsiveness. CONCLUSION: Greek OSA-18 is an instrument with satisfactory internal consistency, reliability, and responsiveness, but it is a poor predictor of OSA severity.

Validation of the nasal obstruction symptom evaluation (NOSE) scale for Greek patients.

OBJECTIVE: Nasal Obstruction Symptom Evaluation (NOSE) scale is a validated disease-specific questionnaire for the assessment of Nasal Obstruction (NO). The aim of this study was to validate the Greek-NOSE questionnaire. STUDY DESIGN: Prospective instrument validation study. SETTING: Tertiary referral center. SUBJECTS AND METHODS: NOSE questionnaire was translated into Greek and then translated back into English. A prospective study was conducted on adult patients with NO due to septal deviation (SD). Test-retest evaluation of SD patients was carried out. Internal consistency was assessed with Cronbach's alpha test and test-retest reliability with Pearson's test (correlation), kappa (reproducibility), and Bland-Altman plot (extent of agreement). Validity was assessed by comparing scores of a control group of volunteers without NO to preoperative scores of SD patients undergoing septoplasty with Mann-Whitney test. Responsiveness was assessed by comparing preoperative to 3 months postoperative scores of SD patients with paired t test and evaluating the magnitude of surgery effect. RESULTS: Test-retest evaluation was accepted on 109 patients. The Greek-NOSE had good internal consistency (Cronbach's alpha 0.74 for test and 0.76 for retest). All its items were significantly correlated between test and retest evaluation. NOSE showed high reproducibility (mean kappa: 0.75), and almost all differences in Bland-Altman plot were between agreement thresholds. Controls (123 volunteers) had significant lower score. Postoperative scores were significantly lower than preoperative, and magnitude of surgery effect was high, both indicating good responsiveness. CONCLUSION: The Greek-NOSE questionnaire is a valid instrument with satisfactory internal consistency, reliability, reproducibility, validity, and responsiveness.

Does perioperative dexamethasone affect voice-related quality of life after thyroidectomy?

The objective of this study is to assess the impact of perioperative dexamethasone on post-thyroidectomy voice outcomes. This study is a retrospective review of prospectively collected data in a tertiary referral center. This is a retrospective analysis of prospectively collected data on adult patients undergoing total thyroidectomy. Exclusion criteria were: previous neck surgery, thyroid lobectomy, neck dissection or other procedure together with thyroidectomy, pathological findings on laryngeal examination, preoperative or postoperative steroid therapy, diabetes mellitus, pregnancy, and postoperative recurrent laryngeal nerve palsy. In all patients, flexible laryngoscopy was performed and Voice Handicap Index (VHI) scores were obtained the day before, 48 h and 1 month after surgery. Patients' medical records were reviewed to find the patients who had received dexamethasone by the anesthesiologist as nausea and vomiting prophylaxis or analgesia. Thus, two groups of patients were formed: dexamethasone (D) group and non-steroid (NS) group. Mann-Whitney test used to compare VHI between the two groups. 122 patients fulfilled the criteria. D group consisted of 50 patients (44 females; mean age 53.16 ± 17.61), in which a single IV dose of 8 mg dexamethasone had been administered perioperative, and NS group consisted of 72 patients (58 females; mean age 50.53 ± 13.60), where no steroids had been administered. No significant difference was noticed between D and NS groups for preoperative VHI score, VHI scores 48 h and 1 month after surgery. In our study, a single perioperative IV dose of 8 mg dexamethasone did not seem to add any benefit on voice-related quality of life after thyroid surgery.

Validation of the Greek OSD-6 quality of life questionnaire in children undergoing polysomnography.

OBJECTIVE: OSD-6 is a disease specific questionnaire for pediatric obstructive sleep apnea (OSA). The aims of this study were to validate OSD-6 in Greek language and correlate OSD-6 with polysomnography results. STUDY DESIGN: Prospective study. SETTING: Tertiary referral center. SUBJECTS AND METHODS: OSD-6 questionnaire was translated to Greek and back to English. A prospective study was conducted on children undergoing overnight polysomnography due to snoring and disrupted sleep. Test-retest evaluation was carried out. Internal consistency and test-retest reliability were evaluated. Validity was assessed by exploring correlations between OSD-6 scores and apnea-hypopnea index (AHI), and by comparing total scores of OSA and non-OSA groups. Responsiveness was assessed by comparing preoperative to postoperative total scores in OSA children who underwent adenotonsillectomy. RESULTS: Test-retest evaluation of 91 subjects showed good internal consistency (Cronbach's alpha 0.860 for test and 0.873 for retest) and reliability (Pearson's correlation coefficients between test and retest scores: 0.751-0.546; p<0.01). Total and domains' OSD-6 scores and AHI were significantly correlated (Spearman's correlation coefficients: 0.277-0.630; p<0.01), while children with OSA had higher total OSD-6 score than those without OSA (median (interquartile range): 16 (11) vs. 10 (7), respectively; p<0.01), indicating good validity. Postoperative OSD-6 scores were significantly lower than preoperative (2.84 ± 3.21 vs. 15.42 ± 6.48, respectively; p<0.001), suggesting good responsiveness. CONCLUSION: The Greek version of the OSD-6 questionnaire proved to be a valid instrument with satisfactory internal consistency, reliability, validity and responsiveness. Furthermore, in our study OSD-6 was significantly correlated to polysomnography results.

The sino-nasal outcome test (SNOT)-22: validation for Greek patients.

The aim of this study was to perform translation, cross-cultural adaptation, and validation of the sinonasal outcome test 22 (SNOT-22) in the Greek language. SNOT-22 was translated into Greek. A prospective study was conducted on adult patients with chronic rhinosinusitis (CRS) according to rhinosinusitis and nasal polyps (EPOS) criteria. Test-retest evaluation of the patients was carried out. Internal consistency was assessed with Cronbach's alpha test, and test-retest reliability with Pearson's test (parametric correlation coefficient), kappa (reproducibility) and Bland-Altman plot (extent of agreement). Validity was assessed by comparing scores between a control group of volunteers without CRS and the CRS group using Mann-Whitney test. Responsiveness was assessed on CRS patients who underwent surgery, by comparing preoperative to 3 months postoperative scores with paired t test. Furthermore the magnitude of surgery effect was evaluated. Test-retest evaluation was accepted in 64 patients. Cronbach's alpha was 0.84 and 0.89 at test and retest, respectively, suggesting good internal consistency. Pearson's correlation coefficient was 0.91 (p < 0.001), revealing good correlation between initial and retest scores. Mean kappa value was 0.65, indicating a high level of reproducibility, while in Bland-Altman plot the differences were located between agreement thresholds. The control group consisted of 120 volunteers. Mann-Whitney test showed a statistically significant lower score for the control group (p < 0.0001). 32 CRS patients underwent surgical treatment. Postoperative scores were significantly lower than preoperative (p < 0.0001) while the magnitude of surgery effect was considered high. Greek SNOT-22 is a valid instrument with good internal consistency, reliability, reproducibility, validity and responsiveness.

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. LEVEL OF EVIDENCE: 2c.

Hidrocystoma of the external auditory canal: a case report.

BACKGROUND: Apocrine hydrocystomas arising in the external auditory canal are very rare. In this report a clinical case of apocrine hydrocystoma located in the cartilaginous part of the external auditory canal is presented. CASE PRESENTATION: A 64-year-old Caucasian female patient presented with a solitary nodule, located in the outer part of the external ear canal after repeated episodes of external otitis. For diagnostic purposes, computerized tomography was used. The patient underwent an excisional biopsy of the mass via an intra-aural incision and the surgical specimen was sent for histopathologic examination. CONCLUSION: An apocrine hidrocystoma inside the auricular canal is uncommon. It can cause recurrent external otitis and conductive hearing loss and should be treated with wide local excision and reconstruction of the external auditory canal for diagnostic and therapeutic purposes.

A hemangioma on the floor of the mouth presenting as a ranula.

A painless, bluish, submucosal swelling on one side of the floor of the mouth usually indicates the presence of a ranula. Rarely, such a swelling may be caused by an inflammatory disease process in a salivary gland, a neoplasm in the sublingual salivary gland, a lymphatic nodular swelling, or embryologic cysts. We report a patient with swelling in the floor of her mouth that was clinically diagnosed as a ranula. Suspicion arose during surgery that it was a vascular tumor and, on histologic testing, the swelling was confirmed to be a hemangioma. To our knowledge, this is the first report in the literature of a hemangioma presenting as a ranula.

Langerhans cell histiocytosis presented as bilateral otitis media and mastoiditis.

Langerhans cell histiocytosis (LCH) is a rare disease that may affect multiple organs. The etiology of LCH remains unclear to date. It is currently believed that clonal accumulation and proliferation of CD1a-positive Langerhans cells are causative. The term LCH or histiocytosis X refers to three separate illnesses (listed in order of increasing severity): eosinophilic granuloma, Hand-Schüller-Christian disease and Letterer-Siwe disease. A seven-month-old boy presented with history of recurrent bilateral otitis media and rash and seborrheic areas on his scalp. Two days prior, his mother noticed a small lump over the right mastoid. Lateral skull X-ray (Schüller) was evidence for lytic lesion on right temporal bone. The computerized tomography scan showed inflammatory changes with bone erosion. During surgical exploration, fragile slightly yellowish tissue with necrotic areas was found that was determined as LCH on histology. Chemotherapy was subsequently initiated. The initial presentation of LCH with bilateral ear and skull involvement is a very rare condition. The signs and symptoms of otologic histiocytosis can mimic those of acute and chronic infectious ear disease. Only a surgically obtained biopsy leads to definitive diagnosis and appropriate therapy.

Treatment of nasal fractures by Paul of Aegina.

OBJECTIVE: The most exact description of the management of nasal fractures given by any physician of ancient times belongs to Paul of Aegina (AD 625-690). The goal of this article is to describe the therapeutic methods and surgical techniques used by Paul of Aegina in the treatment of nasal injuries. STUDY DESIGN: We studied the original Greek texts and the translation published in Venice, titled "The seven books of excellent doctor Paul of Aegina." The sixth book of his medical compendium is devoted to surgery. We identified the treatments and techniques applied to the restoration of injured noses. CONCLUSION: In this historical article we present the management of nasal fractures by Paul of Aegina. Paul of Aegina's conservative and surgical management for each form of injury was adopted by later physicians and influenced European medicine, a management surprisingly identical with the way nasal fractures are managed nowadays.