Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

BACKGROUND: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. METHODS: Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1 s (FEV1)) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV1. RESULTS: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47-100%) and laterality defects (mean 42%, range 28-69%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV1 z-score (-1.66). Median FEV1 z-scores were significantly lower in CCNO (-3.26), CCDC39 (-2.49) and CCDC40 (-2.96) variant groups, while the FEV1 z-score reductions were significantly milder in DNAH11 (-0.83) and ODAD1 (-0.85) variant groups compared to the whole PCD cohort. CONCLUSION: This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.

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.

Collaboration between two CF centers; one in USA and one in Turkey before and during CoV2 pandemic.

To address the discrepancy in the quality of care and outcomes between cystic fibrosis centers (CFCs) in high-income countries and limited resources countries (LRCs), a collaboration between our team at the University of Michigan CFC (UMCFC) and a CF center in Turkey (Marmara University CFC [MUCFC], Istanbul) was established. The collaboration included evaluation of all aspects of care and initiation of quality improvement (QI) measures. Teaching and implementing QI tools has led to start of improvement in MUCFC care. Close monitoring and sharing resources like UMCFC algorithms, protocols, and QI processes were done.

Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD).

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare, genetic, multiorgan disease with an estimated prevalence of 1 in 10 000. It affects mainly the upper and lower airways due to impaired mucociliary clearance. Almost all patients have sinonasal or otologic (ear-nose-throat, ENT) problems, although the ENT clinical phenotype may present great variability. Despite that, data on PCD ENT manifestations are scarce and based on small single-centre studies. To date, we know little about the spectrum and severity of PCD ENT disease, its association with lung disease, its course over life and its determinants of prognosis.This study protocol describes the aims and methods of the first prospective, observational, multinational cohort study focusing on ENT disease in patients with PCD. METHODS AND ANALYSIS: The ENT prospective international cohort of patients with PCD (EPIC-PCD) is a prospective standardised observational clinical cohort set up as a multinational multicentre study, embedded into routine patient care. It aims to longitudinally characterise ENT disease in patients with PCD and its association with lung disease, and to identify determinants of its prognosis. Patients of all ages, diagnosed with PCD who undergo an ENT clinical assessment at least once a year at one of the participating centres will be invited to participate. Collected data include diagnostic test results, results of ENT examinations, lung function measurements, information on management of ENT disease and patient-reported data on clinical symptoms and health-related quality of life (QoL). Data are collected using the standardised PCD-specific FOLLOW-PCD form and the validated QoL-PCD questionnaire. ETHICS AND DISSEMINATION: The study has been reviewed and approved by the Human Research Ethics Committees at all participating centres, based on local legislation. The results of the study will be published in scientific journals, presented at scientific conferences and disseminated to participants and national patient organisations. TRIAL REGISTRATION: NCT04611516.

Caregiver burden in children with cystic fibrosis and primary ciliary dyskinesia.

INTRODUCTION: Caregiver burden impacts both the social and economic framework of society. Cystic fibrosis (CF) causes significant caregiver burden, but the current data is scarce. In the case of primary ciliary dyskinesia (PCD), even less is known. This study aims to compare the caregiver burden of the parents of patients with CF and PCD. METHODS: Patients with CF and PCD between the ages of 6 to 13 and their parents were included. Patients' clinical information and parents' demographics were recorded. Caregiver burden was measured with Zarit Caregiver Burden Scale (ZCB), while the quality of life (QOL) was measured with CFQOL-revised (CFQOL-R) and PCD QOL questionnaire as the patients' age and diagnosis indicated. RESULTS: A total of 63 patients, 44 with CF (69%) and 85 caregivers (35 mothers, 6 fathers, and 22 mother-father dyads) participated in the study. Caregiver burden was significantly higher in mothers of the CF group with a mean ZCB of 30.5 ± 10.7 when compared to the PCD group with a mean ZCB of 21.93 ± 8.26 (P = .006). This was similar in fathers with mean ZCB of 27.5 ± 9.21 in the CF group and 20.36 ± 7.43 in the PCD group (P = .03). In correlation analyses, mothers' caregiver burden moderately and inversely correlated with CFQOL-R subscales in the CF population. CONCLUSION: Caregiver burden is significantly higher in the CF population when compared to PCD. It is correlated with pulmonary functions and QOL in patients with CF.

Evaluation of children with cystic fibrosis by impulse oscillometry when stable and at exacerbation.

BACKGROUND: Pulmonary function tests are important in the diagnosis and follow-up of airway disease in cystic fibrosis (CF). Conventional spirometry for which repeated forced expiration maneuver are needed is considered as the main method. Impulse oscillometry (IOS) is a non-invasive method, which needs minimal cooperation. We performed a prospective cross-sectional study to determine the pulmonary function in CF children with IOS, and evaluate the IOS measurements during acute exacerbation. We hypothesized that IOS can detect lung function impairment in CF patients and detect changes during acute exacerbations. METHODS: CF patients aged 3-18 years were included as the study group and healthy children of the same age formed the control group. The patients were evaluated three times at 3-month intervals. Patients aged >6 years performed both spirometry and IOS while patients aged ≤6 years performed only IOS. In patients with acute exacerbation, spirometry and IOS were performed both at and after the exacerbation. RESULTS: Forty-nine CF patients and 45 healthy children were enrolled to the study. Sixteen patients were admitted with acute exacerbation during the study. The resistance values (R5-10-15-20 Hz) as well as Z5, Fres, and AX values of the patients were higher than those of the control group, while reactance values (X5-10-15-20 Hz) were lower. R values as well as Z5, Fres, and AX values increased during exacerbation and decreased after treatment; X (10-15 Hz) values decreased during exacerbation and increased after recovery (P < 0.05). CONCLUSIONS: IOS may be useful to evaluate pulmonary functions and detect acute exacerbations in CF patients. Pediatr Pulmonol. 2016;51:1151-1158. © 2016 Wiley Periodicals, Inc.

Sleep disordered breathing and sleep quality in children with bronchiolitis obliterans.

The incidence of sleep-disordered breathing (SDB) increases in chronic lung diseases. Our aim was to evaluate SDB and sleep quality in children with postinfectious bronchiolitis obliterans (BO) and assess associated risk factors. We hypothesized that children with BO are at increased risk for SDB and have impaired sleep quality. We also hypothesized that severity of SDB and impairment of sleep quality is related to the severity of lung disease. Sleep Related Breathing Disorder (SRBD) subscale of the Pediatric Sleep Questionnaire (PSQ) and Pittsburgh Sleep Quality Index (PSQI) questionnaires; spirometry, impulse oscillometry (IOS), and overnight polysomnography (PSG) were performed. Twenty-one patients (14 male, median age: 8.3 years) were enrolled. Five patients (25%) had a PSQ score of >0.33, predictive of a SDB. Ten patients (48%) had poor sleep quality. Four patients (19%) had an OAHI of >1/hr. Nineteen patients (90%) had a high desaturation index. Four patients (19%) had a mean oxygen saturation of <93%. Median central apnea time was 7.5 (IQR: 6.9-9.1) seconds. Central apnea index of the patients correlated positively with R5, R10, R15, R20, Z5, and negatively with X10 and X15 at IOS. There was a positive correlation between the lowest oxygen saturation and FVC, FEV1 , X5, X10, X15, X20 while there was a negative correlation between lowest saturation and the central apnea index at PSG, R5, R10, and Z5 at IOS. Mean oxygen saturation during PSG correlated positively with FVC, FEV1, FEF(25-75), X5, X10, X15, X20 results. The risk of nocturnal hypoxia is increased in patients with BO and correlated to the severity of lung disease determined by pulmonary function tests. Although BO patients have a shorter duration of central apneas, they are more prone to desaturate.

Quality of life in children with non-cystic-fibrosis bronchiectasis.

BACKGROUND: Non-cystic-fibrosis bronchiectasis (non-CF BE) continues to be a problem in developing countries and it is therefore important to examine and assess this disease. OBJECTIVES: The aims of this prospective study were to evaluate the health-related quality of life (HRQOL) in non-CF BE children and also to assess the risk factors associated with HRQOL. METHODS: Forty-two non-CF BE patients between the ages of 9 and 18 years were enrolled in the study. All recruited patients completed the generic Short-Form-36 (SF-36), the St. George's Respiratory Questionnaire (SGRQ) for disease-specific QOL scale and forms on socioeconomic status (SES). The extent and severity of CT abnormalities were evaluated by using the modified Bhalla scoring system. Association between HRQOL questionnaires and demographic variables, pulmonary function test, high-resolution CT scores and SES were evaluated. RESULTS: SF-36 and SGRQ subscales all correlated inversely with each other (SF-36 physical component summary with SGRQ symptoms score: r = -0.466, p = 0.001, activity score: r = -0.666, p = 0.000 and impact score: r = -0.667, p = 0.000. SF-36 mental component summary with SGRQ symptoms score: r = -0.396, p = 0.005, activity score: r = -0.533, p = 0.000 and impact score: r = -0.512, p = 0.000). There was an inverse correlation between SGRQ symptoms scores and the duration of regular follow-up (r = -0.3, p = 0.04). The symptoms subscale of SGRQ correlated positively with low values for pulmonary function testing (r = -0.417, p = 0.003) and frequent antibiotic requirements (r = 0.303, p = 0.035). CONCLUSIONS: Early diagnosis and regular follow-up of children with non-CF BE is important for improving their QOL. As expected, the severity and frequency of symptoms are inversely related to the pulmonary function and the QOL scores. A disease-specific questionnaire should be developed to monitor QOL in children with non-CF BE.

Demographic and microbial characteristics and drug resistance of childhood tuberculosis in Istanbul: analysis of 1,541 cases.

INTRODUCTION: Although tuberculosis (TB) is frequently seen in Turkey, there are limited studies on childhood TB. We aimed to describe clinical and laboratory findings, including drug resistance, of children with TB in Istanbul, Turkey. METHODOLOGY: The study included all children aged 0-14 years who were registered in public dispensaries between 2006 and 2010. RESULTS: The study included 1,541 cases. Forty-four percent (n = 763) of the patients were male with a mean age of 8.86 ± 4.19 years. Fifty-five percent of the patients had pulmonary TB, 39% had extrapulmonary TB, and 6% had both pulmonary and extrapulmonary TB. The most common extrapulmonary involvement sites were the pleura (n = 193), lymph nodes (n = 247), and central nervous system (n = 41). Forty-one percent of the patients were evaluated microbiologically and 35% of them were positive. For the total study group, 14% of them were positive. A drug susceptibility test was performed on 108 patients. Drug resistance to at least one drug was detected in 16% (n = 17), to isoniazid in 15% (n = 16), streptomycin in 12% (n = 12), rifampicin in 9% (n = 10), ethambutol in 7% (n = 8), and multi-drug resistance in 8% (n = 9) of patients. CONCLUSIONS: This is the largest analysis on demographic features and drug resistance of childhood TB in Turkey. In Turkey, the rate of microbiological diagnosis is low, similar to rates worldwide. More microbiological studies and drug resistance tests should be done and annual changes should be followed with multi-center studies.

Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia.

BACKGROUND: Enhancement of mucociliary clearance by pulmonary rehabilitation (PR) is advocated in primary ciliary dyskinesia (PCD). Our primary aim was to compare the efficacy and safety of postural drainage, percussion and vibration [conventional PR (CPR)], and high frequency chest wall oscillation (HFCWO) by studying change in pulmonary function. Our secondary aim was to evaluate patient preferences regarding the two methods. METHODS: This was a controlled randomized crossover study. PCD patients between the ages of 7 and 18 years were assigned to two groups, first group performed airway clearance with CPR at hospital for 5 days and after a 2-day washout period HFCWO was applied to the same group at home. HFCWO was applied first to the other group and then these patients were hospitalized for CPR. The primary outcome measure of the study was pulmonary function test (PFT). The secondary outcomes were pulse arterial oxygen saturation (SpO2 ) and the perceived efficiency and comfort level. RESULTS: PFT values of patients increased significantly after both PR methods (before/after): CPR: FVC: 77.0 ± 14.1/81.8 ± 13.0 (P = 0.002); FEV1 : 72.9 ± 14.8/78.7 ± 13.5 (P = 0.001); PEF: 73.8 ± 14.5/82.5 ± 14.5 (P = 0.001); FEF25-75 : 68.6 ± 27.6/74.9 ± 29.3 (P = 0.007). HFCWO FVC: 75.1 ± 15.3/80.3 ± 13.9 (P = 0.002); FEV1 : 71.4 ± 16/77.4 ± 14.6 (P = 0.001); PEF: 70.9 ± 18.0/78.3 ± 17.7 (P = 0.002); FEF25-75 : 70.5 ± 23.4/76.4 ± 25.6 (P = 0.006). There were no significant differences in % predicted FVC, FEV1 , PEF, and FEF25-75 increased values with CPR and HFCWO. HFCWO was found more comfortable (P = 0.04). Two PR methods were found efficient and no desaturation occurred during PR. CONCLUSIONS: PFTs were significantly increased after both PR methods. There were no differences in PFTs and SpO2 between the CPR and HFCWO groups. Both PR methods were found efficient. HFCWO was found more comfortable. HFCWO may be an option in patients with chronic pulmonary disease and low adherence to PR.

An unusual case of childhood sarcoidosis: an unusual clinical case.

Sarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.

An unusual case of childhood sarcoidosis: Un caso clínico infrecuente / Sarcoidosis infantil

Sarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.

La sarcoidosis es una enfermedad granulomatosa sistémica de etiología desconocida que puede afectar varios órganos, principalmente el pulmón. La mayoría de los pacientes presentan estadios I y II de compromiso pulmonar. Los infltrados pulmonares, sin linfadenopatías hiliares (estadio III), son infrecuentes. El compromiso de órganos extrapulmonares es común en la sarcoidosis infantil. El objetivo es presentar un caso infrecuente de sarcoidosis infantil con compromiso pulmonar en estadio III sin afectación de los órganos extrapulmonares. Una niña de 7 años consultó por malestar general, fatiga, pérdida de peso y disnea. En la tomografía computarizada de alta resolución se observó un infltrado bilateral de tipo esmerilado. Se realizó una biopsia pulmonar por videotoracoscopia. La histopatología mostró granulomas no necrosantes de células epitelioides con células gigantes. No había compromiso hiliar ni de otros órganos, por lo que el diagnóstico fue de sarcoidosis en estadio III. La sarcoidosis debe considerarse en el diagnóstico diferencial de los niños con enfermedad intersticial pulmonar.

An unusual case of childhood sarcoidosis: an unusual clinical case / An unusual case of childhood sarcoidosis: an unusual clinical case.

Sarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.

Bronchoscopic evaluation of unexplained recurrent and persistent pneumonia in children.

BACKGROUND: Persistent or recurrent pneumonia in children can pose a significant challenge to paediatricians and respiratory physicians. AIM: The aim of this study is to determine the role of flexible bronchoscopy (FB) in evaluation of recurrent or persistent pneumonia that remain otherwise unexplained by non-invasive diagnostic tests in children. METHODS: Retrospective evaluation of patients who underwent FB with an indication of recurrent or persistent pneumonia from 1997 to 2011. RESULTS: Among 2600 FB procedures, 434 (17%) were performed with the indication of recurrent or persistent pneumonia. There were 237 (54%) boys. Median age at presentation was 84 months, and median duration of symptoms was 9 months. FB led to specific diagnosis in 33% of the cases. The most common diseases diagnosed by FB were malacia disorders (n: 32, 7%), aspirated foreign body (n: 30, 7%), endobronchial tuberculosis (n: 20, 5%), congenital airway anomalies (n: 14, 3%), mucus plugs (n: 14, 3%), pulmonary haemosiderosis (n: 12, 3%) and middle lobe syndrome (n: 11, 3%). During FB, only 6% of the patients had minor complications such as transient hypoxia, stridor and tachycardia. CONCLUSIONS: In our study, FB proved to be a safe and effective tool in evaluation of children with persistent or recurrent pneumonia. FB is indicated for children with recurrent or persistent pneumonia where the underlying diagnosis remains unclear even after non-invasive diagnostic tests.

Flexible bronchoscopy as a valuable tool in the evaluation of infants with stridor.

The aim is to determine clinical characteristics, flexible bronchoscopy (FB) findings including associated airway abnormalities and other conditions, treatment modalities and long term follow-up of children with congenital stridor. Medical records of children, who underwent FB for the evaluation of stridor between 1 January 2004 and 31 December 2009 were retrospectively reviewed. Demographic characteristics, symptoms and physical examination findings at presentation, FB findings, follow-up data including the time to resolution of symptoms and treatment modalities, presence of associated conditions were assessed. 109 children were enrolled to the study. Laryngomalacia was the most common etiology for stridor. Laryngomalacia was isolated in 37 patients and 54 patients had secondary airway lesions (SALs). Diagnoses other than laryngomalacia such as subglottic hemangioma, subglottic web, isolated tracheomalacia were found in 18 patients. In 90 % of patients, stridor resolved before 3 years of age without any surgical intervention and there was no significant difference in terms of the persistence of stridor between patients with isolated laryngomalacia and associated SALs. Duration of stridor was significantly longer in both patients with neurological abnormalities and reflux symptoms. Surgical procedure was performed in 19 of the patients. There is a high incidence of SALs in patients with laryngomalacia. FB is helpful for identifying anomalies requiring surgical treatment.

Intrinsic endobronchial obstructions in children from Turkey: evaluation of 2,555 flexible bronchoscopic procedures.

BACKGROUND: Endobronchial obstructions are rarely seen in children and are often misdiagnosed resulting in delay of definitive treatment. A variety of diseases can cause endobronchial obstructions in childhood, but data is limited as to the frequency, distribution and clinical characteristics of endobronchial obstructions diagnosed with flexible bronchoscopy (FB). OBJECTIVE: To document endobronchial obstructions detected by FB. METHODS: FB results from three pediatric pulmonology centers in Istanbul were evaluated. RESULTS: A total of 2,555 children underwent an FB procedure during the study period. Endobronchial obstructions were detected in 10% (n = 256) of the patients. Among FB in patients who had endobronchial obstructions, the four most common indications for bronchoscopy were persistent infiltrations (30%, n = 72), persistent wheezing (28%, n = 70), chronic cough (26%, n = 66) and atelectasis (23%, n = 59). The most common endobronchial obstructions detected in the patients were aspirated foreign bodies (35.9%, n = 92), endobronchial tuberculosis (31.6%, n = 81), mucous plugs occluding airway (16.7%, n = 43) and granulation scars (6%, n = 16). Other pathologies included hydatid cysts (n = 5), hemangiomas (n = 5), tumors (n = 5), submucosal nodules (n = 5) and polyps (n = 4). Endobronchial obstructions were most commonly located in the right bronchus (51%, n = 130) followed by the left bronchus (33%, n = 85), bilaterally (8%, n = 21) and trachea (8%, n = 20). CONCLUSIONS: Endobronchial obstructions can be caused by a number of different diseases which require various medical or surgical treatments. In the presence of clinical or radiological findings suggesting an endobronchial obstruction, FB should be performed promptly.

Sleep disordered breathing in patients with primary ciliary dyskinesia.

BACKGROUND: Upper airway manifestations of primary ciliary dyskinesia (PCD) can cause obstructive sleep apnea syndrome (OSAS). Also abnormalities of lung mechanics and gas exchange may lead to sleep abnormalities in these patients. OBJECTIVES: To determine the rate of OSAS and sleep quality in PCD patients, and whether these are related to upper respiratory system manifestations and severity of lung disease in these patients. METHODS: Twenty-nine PCD patients and healthy controls were included to the study. Respiratory symptoms within the previous month were separately scored with the severity of the symptoms. Physical examination, pulmonary function tests, and ear-nose-throat assessments were obtained. All patients completed the Turkish version of Pittsburgh Sleep Quality Index (PSQI), sleep questionnaire, and underwent overnight polysomnography. Categorical variables were compared with chi-square and Fisher's exact test while continuous variables were compared with Student's t-test. RESULTS: Eleven PCD patients reported themselves to be "poor" sleepers, compared to only one subject in the control group (P = 0.002). Sixty-five percent of PCD patients had habitual snoring (HS). Fifty-two percent of the PCD patients had OSAS in polysomnography. OSAS rate was higher in PCD patients who snored (P = 0.008). HS and OSAS were more common in PCD patients who had cigarette smoke exposure in their homes (P < 0.001 and P = 0.02, respectively). CONCLUSIONS: Patients with PCD have decreased sleep quality and higher rate of sleep disordered breathing compared to controls and higher rate of OSAS compared to population rates. Cigarette smoke exposure is an important risk factor for OSAS in PCD patients. Assessment and treatment of sleep disorders in PCD should be a part of disease management. Periodicals, Inc.

Description of pediatric tuberculosis evaluated in a referral center in istanbul Turkey.

PURPOSE: Diagnosis of tuberculosis (TB) in children is more challenging than in adults. This study aimed to describe demographical, clinical and laboratory findings of children diagnosed with tuberculosis in Turkey, including the issues of contact tracing, culture positivity and forms of the disease. MATERIALS AND METHODS: Clinical and laboratory data of 51 children with a mean age of 8.0±4.6 years who were diagnosed with TB were retrospectively reviewed. Main diagnostic tools included tuberculin skin test, chest X-ray, sputum/gastric aspirate culture with sensitivity testing, and direct microscopy for acid-fast bacilli on available samples. Clinical characteristics and outcomes of the patients were examined. RESULTS: Thirty-six (70.6%) children were diagnosed with intra-thoracic and 15 (29.4%) with extra-thoracic tuberculosis. Twenty-eight of the patients had a positive Bacillus Calmette-Guérin vaccine scar (28/51, 54.9%) and 23/51 (45.1%) had a positive tuberculin skin test. An adult TB contact was identified in 27 (52.9%) of the cases. On direct microscopy, acid-fast bacilli were found in nine (17.6%) patients and positive culture for Mycobacterium tuberculosis was found in 19 (37.3%). Drug resistance to isoniazid was detected in four (7.8%). One patient with nephrotic syndrome and miliary tuberculosis died during follow-up. All other patients responded well to the treatment. CONCLUSION: Focusing on active contact tracing among all household contacts of tuberculous cases may be helpful in early identification and controlling childhood disease, even in regions with low disease prevalence. Adopting a suspicious and proactive approach in this particular age group is warranted.

Inhaled corticosteroids in treatment of cystic fibrosis.

Reduction of lung inflammation is one of the goals in the treatment of cystic fibrosis (CF). As a result, antiinflammatory therapies are often used to decrease the excessive and persistent inflammatory response. Although effective, the use of systemic corticosteroids has been limited due to unacceptable adverse effects. Inhaled corticosteroids (ICS) are often used empirically to treat children and adults with CF despite the lack of evidence of their benefit. Concern about effects on growth and adrenal suppression have been reduced, but not eliminated with the use of ICS. Herein, mechanisms of action of corticosteroids, the effectiveness and safety of ICS usage in CF are reviewed.