Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.

OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by congenital impairment of mucociliary clearance causing recurrent respiratory tract infections. Pulmonary manifestations of PCD are well-known whereas adequate data on otorhinolaryngological complications is lacking. The aim of this study was to investigate clinical features, course and related factors of otorhinolaryngologic domains in PCD patients. METHODS: Patients with a diagnosis of PCD who were on follow-up in the ear-nose-throat (ENT) department of our center between 2000 and 2021 were enrolled. Demographic and clinical data, frequency of sinonasal and otological complaints, examination findings and possible risk factors associated with otorhinolaryngological diseases were obtained via electronic medical charts retrospectively. RESULTS: Of the 121 patients, 53% were male, median age at PCD diagnosis was 7 years (1 month - 20 yrs). The most common ENT manifestation was otitis media with effusion (OME) (66.1%, n = 80), followed by acute otitis media (43.8%, n = 53), acute rhinosinusitis (ARS) (28.9%, n = 35), chronic rhinosinusitis (CRS) (27.3%, n = 33) and chronic otitis media (10.7%, n = 13). Patients with ARS and CRS were significantly older than patients who did not have ARS and CRS (p = 0.045 and p = 0.028, respectively). The annual number of ARS attacks also correlated with age of patients positively (r = 0.170, p = 0.06). Of the 45 patients with pure-tone audiometry, most common finding was conductive hearing loss (CHL) in 57,8% (n = 26). Presence of OME significantly increased tympanic membrane injury which was observed as sclerosis, perforation, retraction or changes due to ventilation tube insertion (VTI). (OR: 8.6, 95% CI: 3.6-20.3, p < 0.001). CONCLUSIONS: Otorhinolaryngologic diseases are common, variable and complicated in PCD patients, consequently ENT physicians' awareness should be improved through shared experiences. ARS and CRS seem to appear in older PCD patients. Presence of OME is the most important risk factor for tympanic membrane damage.

Clinical implications of fungal isolation from sputum in adult patients with cystic fibrosis

Background/aim: Cystic fibrosis is an autosomal recessive disease with a defect in mucociliary activity that is characterized by recurrent pulmonary infections. Bacterial agents frequently implicated in airway colonization are Haemophilus influenzae, Staphylococcus spp., and Pseudomonas spp. Fungal isolation from sputum is common in adults. However, growth of fungal agent only in sputum culture in patients with cystic fibrosis is insufficient for the diagnosis of fungal diseases. There is limited data about the clinical significance of fungal isolation in sputum cultures. The aim of the study was to investigate the clinical outcomes andsignificance of fungal isolation from sputum samples in adult CF. Materials and methods: This retrospective study included patients who have been admitted between October 2017 and January 2019 in an adult cystic fibrosis unit. Patients were grouped according to fungal pathogenicity as; fungal disease group, colonization group, and nonisolated group. The data of the last one year, including demographics, clinical data, laboratory, treatment modalities, results of cultured bacteria and fungus from sputum samples, respiratory function parameters, frequency of exacerbation, and hospitalizationwere compared between groups. Results: A total of 330 sputum samples from 88 adult patients with CF were collected. Patients were divided into 3 groups, the fungal disease group (n = 10, 11.4%), colonization group (n = 49, 55.7%), and nonisolated group (n = 29, 32.9%). Presence of pulmonary exacerbation, number of admissions to emergency department, and the number of positive cultures for bacteria from sputum were higher in the fungal disease group (p = 0.03, p = 0.01 and p < 0.001). The fungal disease group had higher rate of antibiotics by parenteral routethan other groups (p = 0.001) whereas lung functions were similar. Use of nutritional supplementation and parenteral antibiotherapy were the factors associated with elevated risk of fungal isolation. Conclusion: Frequent use of parenteral antibiotics and use of nutritional supplementation were found to be independent risk factors for fungal isolation from sputum in adult CF.

Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children.

Güney E, Emiralioglu N, Cinel G, Yalçin E, Dogru D, Kiper N, Özçelik HU. Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children. Turk J Pediatr 2019; 61: 20-25. Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by recurrent respiratory tract infections. The measurement of nasal nitric oxide (nNO) is an important test for the diagnosis of PCD. In this study, we aim to evaluate NIOX-MINOÒ, which is an easily applicable method for measuring nNO, in the diagnosis of patients with PCD and define diagnostic cut-off levels. Furthermore, determining the normal limits of nNO in healthy children and investigating nNO levels of children with cystic fibrosis (CF) are the other aims of this study. The children included in this study were 5 to 18.5 years old, 46 of them had PCD, 44 had CF and 200 were healthy children. To our knowledge, this work contains the widest population compared to previous studies. Subjects receiving steroids or antibiotics or those with any acute respiratory tract infection, asthma or allergic rhinitis were not included in the study. Mean nNO levels were found as 10.4, 22.8 and 21.0 ppb in PCD, CF and healthy children, respectively. The nNO levels for PCD patients were found significantly lower than children with CF and the control groups (p < 0.05). In this study, the diagnostic nNO cut-off level between PCD and the other two groups was determined to be < 11.5 ppb with %83.6 specificity and %67.4 sensitivity. The screening of nNO with NIOX-MINO method provides early diagnose before mucosal biopsy of patients who are suspected to have PCD and therefore, prevents co-morbidities and prolongs survival with early treatment.

Reduced anaerobic and aerobic performance in children with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) restricts lifestyle and increases morbidity. The aim of the study was to investigate anaerobic and aerobic performance in children with PCD and their healthy counterparts. Thirty-one children with PCD and 29 age- and sex-matched healthy subjects were studied. Pulmonary function, hand grip strength (HGS), quadriceps strength (QMS), physical activity, anaerobic capacity (muscle power sprint test), and aerobic performance (modified shuttle walk test (MSWT)) were determined. Pulmonary function, HGS, QMS, mean anaerobic power (MAP), and MSWT distance in PCD were significantly lower than those of healthy subjects (p < 0.05). In PCD, the MAP was significantly correlated with age, FEV1, and the mean kcal for 3 days (p < 0.05), and age was its independent predictor (p < 0.05). The MSWT distance was significantly related to gender and weight (p < 0.05), and gender was selected as its independent predictor (p < 0.05). In healthy controls, the MAP was significantly associated with age, gender, FVC, FEV1, HGS, QMS, and the mean kcal for three days (p < 0.05). The MSWT distance was significantly related to weight and body mass index in healthy group (p < 0.05). CONCLUSION: Anaerobic and aerobic performance is impaired in PCD from the early stages. Age determines anaerobic performance. Gender is the determinant of aerobic performance. Whether skeletal muscle characteristics and sex-related changes in body composition affect anaerobic and aerobic capacity in PCD children warrants further study. What is Known: • Exercise performance is determined by anaerobic and aerobic power. • Few studies have shown that PCD patients have lower aerobic performance which is associated with impaired lung function. What is New: • The present research indicated that both anaerobic and aerobic exercise capacity determined using field testing is impaired in PCD from the early stages. • Anaerobic capacity was found to be independently associated with age in PCD. Higher aerobic performance is independently associated with male gender.

Chronic necrotizing pulmonary aspergillosis in an immunocompetent patient after the surgery of hydatid cyst.

Chronic necrotizing pulmonary aspergillosis (CNPA) is a condition caused by the ubiquitous fungus Aspergillus fumigatus in non-immunocompromised individuals. Numerous underlying conditions have been associated with CNPA. Tuberculosis, non-tuberculous mycobacterial infection and allergic bronchopulmonary aspergillosis (ABPA) remain the predominant risk factors for development of CNPA. Development of CNPA in echinococcal cyst cavities is very rare and the optimal therapeutic regimen and treatment duration have not been established. Here, we present a case of CNPA developed six years after the cystectomy operation of hydatid cyst and treated with voriconazole successfully.