The relationship between lung function, exercise capacity, oxidant and antioxidant response in primary ciliary dyskinesia and cystic fibrosis.

Background: There is a need to identify the complex interplay between various physiological mechanisms in primary ciliary dyskinesia (PCD) and cystic fibrosis (CF). The study investigated the interaction between respiratory function, exercise capacity, muscle strength, and inflammatory and oxidant/antioxidant responses in patients with PCD and CF.

Methods: The study included 30 PCD patients, 30 CF patients, and 29 age and sex-matched healthy subjects.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

The airway microbiota in siblings with primary ciliary dyskinesia: Related factors and correlation with clinical characteristics.

Objectives-aim: We aimed to show the composition and structure of and explore affecting factors on airway microbiota in primary ciliary dyskinesia (PCD) patients using culture-independent techniques.

Method: A cross-sectional observational study was performed. We recruited 14 PCD patients (seven pairs of siblings) and nine parents.

Childhood interstitial lung disease in Turkey: first data from the national registry.

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system.

The role of flexible bronchoscopy in the diagnostic pathway of children with unexplained peripheral eosinophilia.

Background: Many possible underlying causes can be seen in children with unexplained peripheral eosinophilia (UPE) with suspected pulmonary involvement. Here, we aimed to demonstrate the clinical characteristics and diagnoses of children evaluated for UPE who underwent diagnostic bronchoscopy.

Methods: Thirty-one children who underwent diagnostic bronchoscopy for UPE between 2006-2018 were included.

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.

ERS International Virtual Congress 2021: Highlights from the Turkish Thoracic Society Early Career Members.

This review aimed to highlight some important points derived from the presentations of the European Respiratory Society 2021 Virtual International Congress by a committee formed by the Early Career Task Group of the Turkish Thoracic Society. We summarized a wide range of topics including current developments of respiratory diseases and provided an overview of important and striking topics of the congress. Our primary motivation was to give some up-to-date information and new developments discussed during congress especially for the pulmonologists who did not have a chance to follow the congress.

Does aeroallergen sensitivity and allergic rhinitis in children cause milder COVID-19 infection?

There are conflicting data with regard to the impact of respiratory and allergic comorbidities on the course of novel coronavirus disease 2019 (COVID-19) in children. This study aimed to investigate the relationship between allergic diseases and COVID-19 severity in pediatric patients. Seventy-five pediatric patients with COVID-19 were classified according to clinical severity and evaluated in the allergy/immunology and pulmonology departments 1 to 3 months after the infection resolved.

Increased Plasma YKL-40 Level and Chitotriosidase Activity in Cystic Fibrosis Patients.

We investigated plasma YKL-40 levels and chitotriosidase (CHIT1) activity in patients with cystic fibrosis (CF) lung disease and evaluated clinically relevant factors that may affect their levels. Plasma samples were obtained from pediatric (n = 19) and adult patients (n = 15) during exacerbation, discharge, and stable period of the disease. YKL-40 levels and chitotriosidase activity were measured by enzyme-linked immunosorbent assay and fluorometric assay, respectively.

Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night polysomnography were analyzed. In addition, parental interviews were performed for each child.

Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism.

Introduction: Sleep-disordered breathing (SDB) is common in children with PWS. In the current study, we aimed to evaluate the severity of SDB in patients with PWS using polysomnography (PSG), and assess the effect of the underlying genetic mechanism on PSG parameters.

Methods: Children with PWS, referred to our sleep laboratory between March 2016 and January 2020 were enrolled.

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.

Evaluation of pulmonary complications and affecting factors in children for repaired esophageal atresia and tracheoesophageal fistula.

Introduction: Recurrent pulmonary infections, wheezing and stridor due to swallowing dysfunction, esophageal dysmotility, gastroesophageal reflux, tracheomalacia and bronchomalacia are frequently seen complications after esophageal atresia and tracheo-esophageal fistula (EA-TEF) surgeries. This study aimed to investigate the frequency and causes of respiratory problems and to evaluate the factors that affect respiratory morbidity in patients who had undergone EA-TEF repair in a tertiary referral center.

Methods: Preoperative and postoperative records of patients with EA, TEF + EA and isolated EA were examined retrospectively.

The frequency and related factors of non-tuberculosis mycobacteria infections among patients with cystic fibrosis.

Background: Non-tuberculous mycobacteria (NTM) can cause chronic lung infection particularly in patients who have structural lung disease such as cystic fibrosis (CF). We evaluated the incidence and management of NTM infections in patients with CF in our center.

Methods: A retrospective cohort study was carried out on CF patients having at least one positive NTM isolate between 2012 and 2020.

Differentially expressed genes associated with disease severity in siblings with cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive disease caused by CFTR gene mutations. Despite having the same mutation, CF patients may demonstrate clinical variability in severity and prognosis of the disease. In this study, we aimed to determine differentially expressed genes between mild and severe siblings with same genotype.

COVID-19 Treatment at a Glance.

As coronavirus disease 2019 (COVID-19) spreads across the world, the ongoing clinical trials are leading to a big race worldwide to develop a treatment that will help control the pandemic. Unfortunately, COVID-19 does not have any known effective treatment with reliable study results yet. In this pandemic, there is not a lot of time to develop a new specific agent because of the rapid spread of the disease.

Risk factors for recurrent pulmonary exacerbation in idiopathic pulmonary hemosiderosis.

Objectives: To evaluate the risk factors of recurrent pulmonary exacerbation and poor prognosis in children with idiopathic pulmonary hemosiderosis (IPH).

Methods: In this multicenter study, 54 patients with a diagnosis of IPH were included. Medical records were retrospectively reviewed from three tertiary care hospitals between 1979 and 2019.

Takayasu arteritis presenting with spontaneous pneumothorax.

Background: Takayasu arteritis (TA) is an idiopathic chronic inflammatory arteritis that affects the large blood vessels. Pulmonary involvement was considered an uncommon manifestation of the disease and spontaneous pneumothorax has not been previously described in association with TA.

Case: We report a 13-year-old female who had TA complicated by spontaneous pneumothorax during treatment.

Diagnostic value of lung ultrasonography in children with COVID-19.

Background: Lung ultrasound (LUS) has been successfully used in the diagnosis of different pulmonary diseases. Present study design to determine the diagnostic value of LUS in the evaluation of children with novel coronavirus disease 2019 (COVID-19).

Methods And Objectives: Prospective multicenter study, 40 children with confirmed COVID-19 were included.

Obstructive sleep apnea in children with hypothalamic obesity: Evaluation of possible related factors.

Introduction: Hypothalamic obesity (HO) is a type of obesity that is caused by hypothalamic damage. HO can be complicated by obstructive sleep apnea syndrome (OSAS) due to anatomical narrowing of the upper airway and hypothalamic damage-induced dysfunction of the sleep control mechanisms. We aimed to explore the presence and severity of OSAS in children with HO and hypothesized that OSAS is more severe and frequent in HO than exogenous obesity (EO).

Diverse clinical characteristics of Aspergillus growth in patients with cystic fibrosis.

Background And Objectives: Patients with cystic fibrosis (CF) have a varying spectrum of clinically significant Aspergillus disease in addition to allergic bronchopulmonary aspergillosis (ABPA). Here we aimed to review the different clinical phenotypes related with Aspergillus growth on the airway culture of patients with CF, we also aimed to investigate the effect of Aspergillus growth on lung function tests.

Method: The medical records of 100 patients with CF who had Aspergillus growth on airway culture within the period of April 2001 and June 2016 were retrospectively analyzed.

Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.

Background: Cystic fibrosis, the most prevalent autosomal recessive genetic disease, is caused by mutations in the CFTR gene. The spectrum and frequency of CFTR mutations in Turkish patients show heterogeneity.

Methods: We investigated CFTR gene mutations in samples from 604 cystic fibrosis patients diagnosed at Hacettepe University, the largest referral CF center in Turkey, by different techniques such as strip assay and direct sequencing.

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

Background: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.

Case: Here we report two Turkish patients with Vici syndrome.