Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.

Importance: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity. Objective: To characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort. Design, Setting, and Participants: This cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included. Exposures: Potential risk factors associated with increased risk of ear disease. Main Outcomes and Measures: The prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment. Results: A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion-usually bilateral-was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91). Conclusion and Relevance: In this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.

Sinonasal disease among patients with primary ciliary dyskinesia: an international study.

Background: Sinonasal symptoms are a common feature of primary ciliary dyskinesia (PCD); however, literature about their severity and frequency, particularly during the life course, is scarce. Using baseline data from the Ear, nose and throat (ENT) Prospective International Cohort of PCD patients, we describe sinonasal disease in PCD. Methods: We included participants who had a routine sinonasal examination during which they completed a symptoms questionnaire. We compared frequency of reported symptoms and examination findings among children and adults, and identified characteristics potentially associated with higher risk of sinonasal disease using ordinal regression. Results: 12 centres contributed 384 participants; median age was 16 years (IQR 9-22), and 54% were male. Chronic nasal problems were the most common feature, reported by 341 (89%). More adults (33; 24%) than children (10; 4%) described hyposmia. Quality of life was moderately affected by rhinosinusitis among 136 participants with completed SNOT-22 questionnaires (median score 31; IQR 23-45). Examinations revealed nasal polyps among 51 of 345 participants (15%) and hypertrophic inferior nasal turbinates among 127 of 341 participants (37%). Facial pain was detected in 50 of 342 participants (15%). Nasal polyps, hypertrophic turbinates, deviated septum and facial pain were found more commonly in adults than children. The only characteristic associated with higher risk of sinonasal disease was age 10 years and older. Conclusions: Based on our findings, regular sinonasal examinations are relevant for patients with PCD of all ages. There is a need for improved management of sinonasal disease supported by evidence-based guidelines.

Investigation of the protective effects of intraperitoneal melatonin in rats receiving laryngeal radiotherapy.

OBJECTIVES: To examine the protective effects of melatonin on laryngeal radiation damage. MATERIALS AND METHODS: 31 rats were divided into 4 groups as follows: 1) the control (C) group (n=7), was only injected with intraperitoneal ethanol solution; 2) the melatonin (M) group (n=8), was injected intraperitoneal melatonin solution with 5 mg/kg; 3) the radiotherapy (RT) group (n=8) was given laryngeal radiation after intraperitoneal injection of ethanol solution; 4) the M + RT group (n=8), RT was given 30 minutes after 5 mg/kg dose of melatonin solution was injected. Drug and radiation applications were continued for 5 days. The weight changes of the rats were recorded. At the end of the study, inflammation, neutrophil migration and lymphoid aggregates, collagen distribution, laryngeal glandular structures and biochemical analysis of laryngeal tissues [malondialdehyde (MDA), total oxidant status (TOS) and total antioxidant status (TAS)] were determined. RESULTS: In the M+RT group, the first day and the 30th weight differences were significantly increased when compared with the RT group (p=0.050). Inflammation, neutrophil migration, lymphoid aggregate, disorganized collagen distribution and loss of glandular tissues were found statistically more in the RT group than in the C group (p<0.05). MDA and TOS levels were in the M + RT group exhibited better values than they did in the RT group (p<0.05). TAS levels was markedly increased in the M + RT group than in the RT group (p<0.001). CONCLUSION: Administration of melatonin to rats prior receiving laryngeal radiation, decreases the level of oxidative stress markers and increases the level of anti-oxidative markers.

Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia.

BACKGROUND: Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed to evaluate the cilia functions and cilia ultrastructural abnormalities after ciliogenesis of cell culture in patients with definitive diagnosis of PCD. We also aimed to compare high speed videomicroscopy (HSVM) results of patients before and after ciliogenesis and to compare them with electron microscopy, genetic and immunofluorescence results in patients with positive diagnosis of PCD. METHODS: This study was conducted as a cross-sectional study in patients with PCD. HSVM, transmission electron microscopy (TEM) and immunofluorescence staining results of the nasal biopsy samples taken from patients with the definitive diagnosis of PCD were evaluated and HSVM findings before and after cell culture were described. RESULTS: Ciliogenesis and regrowth in the cell culture occurred in the nasal biopsy sample of eight patients with PCD. The mean age of the patients was 15.5±4.2 years (8.5-18 years). Mean beat frequency was found to be 7.54±1.01 hz (6.53-9.45 hz) before cell culture, and 7.36±0.86 hz (6.02-7.99 hz) after cell culture in the nasal biopsy of patients. There was no significant difference in the beat frequency of PCD patients before and after cell culture. Ciliary function analysis showed the similar beating pattern before and after cell culture in patients with PCD. CONCLUSIONS: This study showed us that there was no difference between cilia beat frequency and beat pattern before and after cell culture in patients with definitive diagnosis of PCD and repeated HSVM would be a useful diagnostic approach in patients who have no possibility to reach other diagnostic methods.

Comparison of the effects of platelet-rich plasma and dexamethasone injection on scar formation after vocal fold injury in rabbits.

OBJECTIVES: In this study, a histopathological comparison was aimed between platelet-rich plasma (PRP) injection and dexamethasone injection in the prevention of scar formation after vocal fold injury. MATERIALS AND METHODS: Electrocautery was applied to damage the right and left vocal folds of a total of 12 New Zealand rabbits. PRP obtained from the rabbit's own blood was injected into the right vocal fold, and dexamethasone was injected into the left vocal fold. After 8 weeks, the experimental animals were euthanized, and the levels of inflammatory cell infiltration, vascularization, collagen, elastin, and hyaluronic acid (HA) were compared in histopathological evaluation. RESULTS: In statistical comparison of histopathological data obtained; in terms of plasma cell infiltration, vascularization, and edema parameters, statistically significant results were obtained in favor of the PRP group. Although the difference between collagen, elastin and HA, which are critical in vocal fold scar healing, was more positive in favor of PRP, no significant result was revealed in the statistical evaluation. CONCLUSIONS: PRP injection in rabbits with vocal fold damage reveals similar characteristics with dexamethasone injection in preventing scar formation. PRP injection has favorable effects on vascularization, prevention of edema, and number of plasma cells.

Submucous cleft palate: from diagnosis to management

Background/aim: The aim of this study was to investigate submucous cleft palate (SMCP) patients in order to document the age of diagnosis, cause of referral, symptoms and palate findings, objective evaluation of nasalance and velopharyngeal dysfunction (VPD), and intervention type. Material and methods: The archive of Hacettepe University Cleft Lip and Palate, Craniomaxillofacial Anomalies Research, Treatment, and Application Center was reviewed retrospectively, and 166 patients diagnosed with SMCP were documented. Results: The mean age of the patients at the time of initial referral was 10 years and 3 months ± 8 years and 5 months with the youngest being 1 month and the oldest 44 years old. The primary complaint of 127 (76.5%) patients was speech disorder. Seventy-nine patients underwent surgery, and the mean age was determined as 10 years ± 6 years and 8 months. Conclusion: The diagnosis of SMCP continues to be rather late, being delayed until a prominent speech disorder is present. Studies for the awareness of health professionals are of great importance for the early diagnosis and intervention of SMCP in order to prevent adverse effects.