Newborn Screening Program for Cystic Fibrosis in Türkiye: Experiences from False-Negative Tests and Requirement for Optimization.

Background: Since January 2015, the Cystic Fibrosis National Newborn Bloodspot Screening (CF-NBS) program has been implemented in Turkey with two samples of immune reactive trypsinogen (IRT-1/IRT-2) testing.

Aims: This study aimed to evaluate the Turkish national CF screening program, which included patients referred to a tertiary pediatric pulmonology center, to ascertain the optimal cut-off values for IRT-1/IRT-2 and to identify alternative strategies for mitigating the number of late-diagnosed false-negative patients (FNPs) who initially exhibited screen negative results but were diagnosed subsequently based on clinical suspicion. The study also compared NBS-positive patients to FNPs to determine the influence of delayed diagnosis.

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.

Experience of flexible bronchoscopy in the pediatric pulmonary diseases clinic.

Introduction: Flexible bronchoscopy is a valuable method in the diagnosis and treatment of respiratory tract diseases in children. This study aimed to examine the indications for and results of flexible bronchoscopy in children.

Materials And Methods: The study included patients aged 0-18 years who underwent flexible bronchoscopy between 1 January 2017 and 31 December 2022.

Food oral immunotherapy: Any distinguishing factors predicting the need of anti-IgE?

Oral immunotherapy (OIT) has gained popularity recently for IgE-mediated food allergy. Omalizumab (OMZ) has been used in patients (10-20%) who have too severe/frequent allergic reactions (AR) to continue OIT, to reduce these reactions. In this study, it was aimed to compare two groups of patients who completed OIT with and without OMZ and to seek determinants predicting the need of this treatment.

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.

Successful treatment of post-pericardiotomy syndrome via C1 inhibitor replacement therapy in a hereditary angioedema patient with Marfan syndrome.

Background: Hereditary angioedema with C1 inhibitor deficiency (HAE-C1INH) is caused by dysfunctional C1-INH protein due to mutations in the SERPING1 gene encoding C1-INH. Marfan syndrome is a genetic connective tissue disease that affects the cardiovascular and ocular systems along with the skeletal system. In this case, we present the successful treatment of post-pericardiotomy syndrome unresponsive to classical therapy, which has not been described in the literature.

Cut-Off Values of Specific IgE and Skin Prick Test to Predict Oral Food Challenge Positivity in Children with Cow's Milk Allergy.

Objective: The cut-off values for the skin prick test diameters and cow's milk-specific IgE measurements are used to predict the result of the oral food challenge test for the diagnosis of cow's milk allergy. This study aimed to determine the diagnostic values of skin prick test and cow's milk-specific IgE according to age groups and compare the diagnostic powers of these 2 methods.

Materials And Methods: In total, 153 children who had a preliminary diagnosis of cow's milk allergy were evaluated.

Effectiveness and adverse reactions to subcutaneous immunotherapy in children with allergic rhinitis/asthma.

Objective: Adverse reactions, which are mostly local and rarely systemic, can be seen during subcutaneous immunotherapy (SCIT). It was not possible to continue SCIT at times due to systemic reactions. The purpose of the present study was to identify the incidence and risk factors associated with adverse reactions during subcutaneous allergen-specific immunotherapy (AIT).

Immunologic changes during desensitization with cow's milk: How it differs from natural tolerance or nonallergic state?

Background: Oral immunotherapy (OIT) is a novel allergen-specific treatment for food allergies.

Objective: To investigate the effect of OIT on blocking antibodies, T cell regulation, and cytokine response during immunoglobulin (Ig)E-mediated cow's milk allergy (CMA) treatment.

Methods: A total of 59 children with IgE-mediated CMA who were followed in pediatric allergy outpatient clinic and 18 healthy children were included.

Could Age and Oral Challenge Outcomes Identify High-Risk Patients During Cow's Milk Oral Immunotherapy?

Severe immunglobuline E (IgE)-mediated reactions during oral immunotherapy (OIT) are major obstacles to treatment. The present study aimed to evaluate and identify clinical and laboratory biomarkers of adverse events during OIT among children with cow's milk (CM) allergy. Eighty-six children older than 36 months who had undergone OIT with milk were enrolled.

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease.

Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data.

Effects of Cow's Milk Components, Goat's Milk and Sheep's Milk Sensitivities on Clinical Findings, and Tolerance Development in Cow's Milk Allergy.

Objective: Cow's milk (CM) contains some proteins capable of causing an allergic reaction in a sensitized individual and one of the most common causes of food allergy in childhood. Most of the patients will develop tolerance by the age of 3. In this study, we aimed to evaluate sensitivity to CM allergen components as well as goat's milk (GM) and sheep's milk cross reactions in cow's milk allergic (CMA) patients and to figure out the risk factors for tolerance non-development.

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.

Asthma-like symptom or "cystic fibrosis asthma"?

Introduction: The diagnosis of asthma is still a difficult problem in cystic fibrosis. There is no consensus on how to define "CF asthma". The aim of this study was to determine the role of bronchodilator response and laboratory evidence of allergy in "CF asthma".

Identifying wheezing phenotypes in a pediatric Turkish cohort.

Objective: Characterization of wheezing phenotypes in children might help to identify the underlying mechanisms through which asthma occurs. In our study, we aimed to describe wheezing phenotypes in Turkish children and to identify risk factors according to phenotypes.

Methods: 651 wheezy children were evaluated and 5 wheezing phenotypes were described according to age of onset, atopy and persistence at 6 years of age and risk factors were identified.

Early diagnosis effects the prognosis in children with atypical wheeze.

Aim: Recurrent wheezing is a common problem in preschool children.It is classified into two groups because there can be many reasons for wheeze: typical and atypical. The aim of this study was to identify the general features of atypical wheezy children.

Successful Desensitization Protocol in an Infant Following Anaphylaxis Secondary to Recombinant Factor VIIa.

Recombinant factor VIIa (rFVIIa) is a highly purified recombinant protein. It is approved for the treatment and prevention of bleeding episodes associated with congenital factor VII deficiency, congenital hemophilia with inhibitors, and Glanzmann's thrombasthenia. The most commonly reported adverse events are thrombolytic in nature.

Prospective evaluation of vascular changes in acute respiratory infections in children with cystic fibrosis.

Background/aim: Acute exacerbations and chronic inflammation are risk factors for cardiovascular disease (CVD) in cystic fibrosis (CF) patients. The aim of this study was to investigate the effects of acute exacerbation therapy on arterial stiffness in children with CF.

Materials And Methods: Augmentation index (Aix) and pulse wave velocity (PWV) were measured before and after treatment and 1 month after the end of treatment in patients with acute exacerbation.