Quality of life and exercise capacity in patients with primary ciliary dyskinesia

28th International Congress of the European-Respiratory-Society (ERS) -- SEP 15-19, 2018 -- Paris, FRANCEWOS: 000455567102045…European Respiratory So

Pigeon breeder's disease as a cause of hypersensitivity pneumonia in children

Background and objectives. Hypersensitivity pneumonia is a complex condition due to exposure time, intensity, different clinical presentation, and treatment practices. We aimed to evaluate the patients that were diagnosed with hypersensitivity pneumonia (HSP) due to exposure to pigeons and a review of the literature for diagnosis and treatment of Pigeon Breeder's Disease (PBD) in children. Method. Between the years of 2009-2018, patients who were diagnosed with HSP due to PBD were included in the study in a pediatric pulmonology department. Findings of our patients, treatments, and prognoses were compared with 17 articles in the literature about PBD in children. Results. In a 9 year-period, 6 patients were diagnosed as HSP due to PBD. The mean age of the patients was 8.8 +/- 5.4 years and the average duration of pigeon exposure was 60.1 +/- 6.5 days. Precipitating antibodies were positive in 3 patients. In four cases, symptoms were resolved with only prevention of pigeon exposure. Two patients who had close contact with pigeons needed oxygen supplementation and steroid therapy. Conclusion. Hypersensitivity pneumonia should be considered for the differential diagnosis of patients that present with respiratory distress, cough, fever, and weight loss. Prolonged exposure and close contact may worsen the clinical symptoms. In most cases, only exposure prevention is enough, while steroid therapy, oxygen support, and intensive care monitoring may be required in severe cases

Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey

OZCELIK, HAYRIYE UGUR/0000-0003-1587-5216; Yilmaz, Ozge/0000-0001-6051-5020; Cekic, Sukru/0000-0002-9574-1842; Harmanci, Koray/0000-0002-8494-648X; Emiralioglu, Nagehan/0000-0002-1405-8401; Sismanlar Eyuboglu, Tugba/0000-0001-7284-4999; Aslan, Ayse Tana/0000-0002-5360-8517; COBANOGLU, NAZAN/0000-0002-3686-2927WOS: 000535323700001PubMed: 32453906Background A better understanding of cystic fibrosis transmembrane conductance regulator biology has led to the development of modulator drugs such as ivacaftor, lumacaftor-ivacaftor, tezacaftor-ivacaftor, and elexacaftor-tezacaftor-ivacaftor. This cross-sectional study evaluated cystic fibrosis (CF) patients eligible for modulator drugs. Methods Data for age and genetic mutations from the Cystic Fibrosis Registry of Turkey collected in 2018 were used to find out the number of patients who are eligible for modulator therapy. Results of registered 1488 CF patients, genetic analysis was done for 1351. the numbers and percentages of patients and names of the drugs, that the patients are eligible for, are as follows: 122 (9.03%) for ivacaftor, 156 (11.54%) for lumacaftor-ivacaftor, 163 (11.23%) for tezacaftor-ivacaftor, and 57 (4.21%) for elexacaftor-tezacaftor-ivacaftor. Among 1351 genotyped patients total of 313 (23.16%) patients are eligible for currently licensed modulator therapies (55 patients were shared by ivacaftor and tezacaftor-ivacaftor, 108 patients were shared by lumacaftor-ivacaftor and tezacaftor-ivacaftor, and 22 patients were shared by tezacaftor-ivacaftor and elexacaftor-tezacaftor-ivacaftor groups). Conclusions the present study shows that approximately one-fourth of the registered CF patients in Turkey are eligible for modulator drugs. As, frequent mutations that CF patients have in Turkey are different from North American and European CF patients, developing modulator drugs effective for those mutations is necessary. Furthermore, as modulator drugs are very expensive currently, financial support of the government in developing countries like Turkey is noteworthy

Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey

Background Despite the availability of cystic fibrosis (CF) screening countrywide, diagnostic delay is still a crucial issue. The objectives of this study were to explore the stages of the NBS process, determine the risk factors associated with diagnostic delay and evaluate parent anxiety and experience throughout the process. Methods This is a multicenter cross-sectional study. A questionnaire was completed by parents of newborns diagnosed with CF via NBS in 17 centers. Socio-demographic characteristics, parent knowledge and experiences related to NBS, sweat test availability in the region of residence, and time to the definitive CF diagnosis were assessed through this questionnaire. Parents' anxiety levels were evaluated through the State-Trait Anxiety Inventory scales 1 and 2. Delayed diagnosis (DD) was defined as a definite CF diagnosis beyond the 8th week of life. Predictors of delayed CF diagnosis were evaluated by univariate and multivariate analysis. Results A total of 220 CF patients diagnosed via NBS were enrolled; 82 (37.3%) babies had DD. Multivariable analysis indicated that residence in the Southeast Anatolia region of Turkey (OR = 10.79, 95% CI = 2.37-49.2) was associated with a higher incidence of DD compared with other regions in Turkey. Of the total, 216 (98.1%) of the caregivers regarded the NBS program as useful and 180 (82%) reported high anxiety levels. Conclusion The organization of newborn screening should take into account regional and socio-cultural characteristics to improve the early diagnosis of CF and also reduce the anxiety level of parents

What triggered massive hemoptysis in Goodpasture syndrome with isolated pulmonary involvement in a 14-year-old boy?

Goodpasture syndrome is a rare, autoimmune disease associated with the development of antibodies against a specific antigen both in glomerular basement membrane and alveolar basement membrane. It is very rare in childhood and its incidence is not known. Although the mechanism of the disease is the same in lung as in the kidney, sometimes it presents with involvement of only one organ. Pulmonary involvement may be life-threatening in patients with massive hemoptysis. Herein we report a 14-year-old boy with isolated lung involvement. He had massive hemoptysis following bronchoscopy and recovered succesfully with treatment

Misdiagnosis of Asthma May Delay the Post Infectious Bronchiolitis Obliterans Diagnosis

European Respiratory So