Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.

Background: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.

Evaluation of iodine and selenium level and thyroid functions in patients with cystic fibrosis.

Objectives: There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of thyroid dysfunction in children and adolescents with CF and to evaluate iodine deficiency and selenium status in pwCF.

Methods: Sixty-two CF patients and 62 control subjects were evaluated.

National Registry for Home Mechanical Ventilation in Children from Turkey.

Background: Advances in neonatal and pediatric intensive care have improved patient survival rates, emphasizing the need for respiratory support in cases of chronic respiratory failure, resulting in the establishment of the Turkish National Pediatric Patients Receiving Home Mechanical Ventilation (HMV) Support Registration System in 2023. This study aims to present the initial findings of the registry.

Methods: In this cross-sectional study, epidemiological and demographic data were obtained from the registry and compared between invasive ventilation (IV) and non-IV (NIV) groups.

Evaluation of Oral Glucose Tolerance Test Results in Children with Cystic Fibrosis.

Objectives: Current guidelines suggest that patients with cystic fibrosis (CF), who are over the age of 10, should be annually evaluated with oral glucose tolerance test (OGTT). In this study, it was aimed to evaluate the OGTT results in patients above the age of 10, who were followed up in our center with the diagnosis of CF.

Methods: In the study, 46 patients with CF at the age of 10 and above, who underwent OGTT were included.

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.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

Background: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline.

Methods: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2).

Evaluation of Clinical, Biochemical, and Demographic Characteristics of Paediatric COVID-19 Patients Admitted to Dicle University Hospital.

Introduction And Aim: In this study, we aim to determine how laboratory parameters were related to the clinical courses of patients admitted to the Dicle University Faculty of Medicine Department of Paediatrics and Paediatric Intensive Care Unit with COVID-19 diagnoses from March 2020 to November 2021.

Materials And Method: Clinical, biochemical and demographic characteristics of 220 patients between 0 and 16 years old with COVID-19 diagnoses at admission were analysed retrospectively.

Results: We found that 57.

The use of puzzles in inhaler technique training.

Objective: Inhaled drugs are essential for the treatment of several chronic respiratory diseases. However, patient inhaler techniques are frequently suboptimal; here, educational games may enhance patients' understanding of educational interventions. In addition, patients may practice repetitively, learning in a more relaxed and fun environment.

Evaluation of Hematological Parameters of Children Diagnosed with COVID-19: Single-Center Experience.

Objective: Although many pediatric studies on children infected with coronavirus disease 2019 (COVID-19) have been published, the diagnosis, clinical symptoms, laboratory findings, and treatment of COVID-19 in children are still unclear.

Materials And Methods: This study was conducted with an aim to examine the hematological findings of symptomatic pediatric patients diagnosed with COVID-19 in May 2020 at the Pandemic Hospital in Dicle University. Patient records were evaluated retrospectively.

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.

Evaluation of children and adolescent with cystic fibrosis by pancreatic elastography.

Background: Cystic fibrosis (CF) is an autosomal recessively inherited disease. Clinical findings vary by age of the patient, the organ systems involved, and the severity of the CFTR gene mutation. Pancreatic and liver involvement is prominent and exocrine pancreatic insufficiency is observed in the majority of patients.

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.

Multisystem inflammatory syndrome in children: A single-center experience.

Background: This case series aims to evaluate the presenting symptoms, laboratory data, systemic findings, and response to early treatment in patients who were followed up with the diagnosis of multisystemic inflammatory syndrome associated with novel coronavirus disease 2019 (COVID-19).

Methods: The presentation, laboratory findings, and responses to treatment of patients hospitalized and diagnosed with multisystemic inflammatory syndrome were evaluated retrospectively.

Results: A total of 32 patients were included in the study.

Clinical findings of patients with cystic fibrosis according to newborn screening results.

Background: Cystic fibrosis (CF) is a lethal recessive genetic disease caused by loss of function associated with mutations in the CF trans-membrane conductance regulator. It is highly prevalent (approximately 1 in 3,500) in Caucasians. The aim of this study was to compare demographic and clinical features, diagnostic tests, treatments, and complications of patients with CF whose newborn screening (NBS) with twice-repeated immune reactive trypsinogen testing was positive, normal, and not performed.

Does Covid-19 in children have a milder course than Influenza?

Background: In December 2019, a novel type of coronavirus infection emerged in the Wuhan province of China and began to spread rapidly. In this study, we aimed to determine the differences between COVID-19 disease and Influenza.

Methods: This retrospective study included 164 children with COVID-19, as well as 46 children with Influenza.

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

Background: 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.

Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.

Background: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population.

Methods: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017.

Cystic fibrosis in Turkey: First data from the national registry.

Background: Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017.

Idiopathic Pulmonary Hemosiderosis in a Child with Recurrent Macrophage Activation Syndrome Secondary to Systemic Juvenile Idiopathic Arthritis.

Macrophage activation syndrome, a severe complication of systemic juvenile idiopathic arthritis and other inflammatory diseases, represents one of the most important rheumatological emergencies. Delayed diagnosis could lead to life-threatening complications. Pulmonary hemosiderosis has been classically characterized by a triad of anemia, hemoptysis, and lung infiltrates on chest radiogram.