Search

Background: The decline in pulmonary function is a predictor of disease progression in patients with cystic fibrosis (CF). This study aimed to determine the decline rate of percent predicted forced expiratory volume in 1 s (ppFEV1) based on the data of the CF Registry of Turkey. The secondary aim was to investigate the risk factors related to the decline in ppFEV1., Methods: A retrospective cohort study of CF patients over 6 years old, with pulmonary function data over at least 2 years of follow-up was extracted from the national CF registry for years 2017-2019. Patients were classified according to disease severity and age groups. Multivariate analysis was used to predict the decline in ppFEV1 and to investigate the associated risk factors., Results: A total of 1722 pulmonary function test results were available from 574 patients over the study period. Mean diagnostic age was older and weight for age, height for age, and body mass index z scores were significantly lower in the group of ppFEV1 < 40, while chronic Pseudomonas aeruginosa (p < .001) and mucoid P. aeruginosa colonization (p < .001) were significantly higher in this group (p < .001). Overall mean annual ppFEV1 decline was -0.97% (95% confidence interval [CI] = -0.02 to -1.92%). The mean change of ppFEV1 was significantly higher in the group with ppFEV1 ≥ 70 compared with the other (ppFEV1 < 40 and ppFEV1: 40-69) two groups (p = .004). Chronic P. aeruginosa colonization (odds ratio [OR] = 1.79 95% CI = 1.26-2.54; p = .01) and initial ppFEV1 ≥ 70 (OR = 2.98 95% CI = 1.06-8.36), p = .038) were associated with significant ppFEV1 decline in the whole cohort., Conclusions: This data analysis recommends close follow-up of patients with normal initial ppFEV1 levels at baseline; advocates for early interventions for P. aeruginosa; and underlines the importance of nutritional interventions to slow down lung disease progression., (© 2024 Wiley Periodicals LLC.)

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., Methods: This retrospective cohort study included CF patient data from the CFRT in 2021. The decision of eligibility for the CFTR modulator was determined according to the 'Vertex treatment-Finder' on the Vertex® website. Demographic and clinical characteristics of patients were compared between eligible (group 1) and ineligible (group 2) groups for CFTR modulators., Results: Among the study population (N = 1527), 873 (57.2%) were in group 1 and 654 (42.8%) were in group 2. There was no statistical difference between groups regarding sex, meconium ileus history, diagnoses via newborn screening, FEV1 z-score, CF-associated complications, organ transplant history, and death. Patients in group 2 had a higher incidence of pancreatic insufficiency (87.7% vs. 83.2%, p = .010), lower median height z-scores (-0.87 vs. -0.55, p < .001), lower median body mass index z-scores (-0.65 vs. -0.50, p < .001), longer days receiving antibiotics due to pulmonary exacerbation (0 [interquartile range, IQR: 0-2] vs. 0 [IQR: 0-7], p = 0.001), and more non-invasive ventilation support (2.6% vs. 0.9%, p = 0.008) than patients in group 1., Conclusion: The ineligible group had worse clinical outcomes than the eligible group. This highlights their need for life-changing drugs to improve clinical outcomes., (© 2024 Wiley Periodicals LLC.)

Background: Cystic fibrosis (CF) is an autosomal recessive disorder caused by CF transmembrane conductance regulator (CFTR) genetic variants. CFTR modulators improve pulmonary function and reduce respiratory infections in CF. This study investigated the clinical and laboratory follow-up parameters over 1 year in patients with CF who could not receive this treatment., Methods: This retrospective cohort study included 2018 and 2019 CF patient data from the CF registry of Turkey. Demographic and clinical characteristics of 294 patients were assessed, who had modulator treatment indications in 2018 but could not reach the treatment., Results: In 2019, patients younger than 18 years had significantly lower BMI z-scores than in 2018. During the 1-year follow-up, forced expiratory volumes (FEV1) and FEV1 z-scores a trend toward a decrease. In 2019, chronic Staphylococcus aureus colonization, inhaled antipseudomonal antibiotic use for more than 3 months, oral nutritional supplement requirements, and oxygen support need increased., Conclusions: Patients who had indications for modulator treatments but were unable to obtain them worsened even after a year of follow-up. This study emphasized the importance of using modulator treatments for patients with CF in our country, as well as in many countries worldwide., (© 2023 Wiley Periodicals LLC.)

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). Demographic and clinical features were compared between the two groups., Results: Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV₁ in 2017 in Group 1 and between FEV₁ values in 2017 and 2018 in Group 2., Conclusions: There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral.

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., 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., (© 2020 Wiley Periodicals LLC.)

Introduction: Atopic dermatitis (AD) is a chronic inflammatory disease caused by the complex interaction of genetic, immune and environmental factors such as food and airborne allergens. The atopy patch test (APT) is a useful way to determine delayed-type hypersensitivity reactions to food and aeroallergens. Many studies have also suggested that food additives are associated with dermatologic adverse reactions and the aggravation of pre-existing atopic dermatitis symptoms., Aim: To elucidate the contact sensitivity to food additives in children suffering from AD by using standardized atopy patch testing., Material and Methods: A total of 45 children with AD and 20 healthy children have been enrolled. All the children have regularly consumed food containing additives, and were subjected to atopy patch tests., Results: In total, 28 (62%) children with AD and 4 (20%) healthy children have had positive patch test reactions to ≥ 1 allergens. There has been a significant difference ( p = 0.04) between the groups in terms of the positivity rate in the patch test and the most common allergen that elicited positive patch test results in the AD group was azorubine ( n = 11, 24.4%, p = 0.014)., Conclusions: In our study, contact sensitivity was detected more frequently in AD patients. Food additives may play a role in the development and exacerbation of AD. Atopy patch testing with food additives can be useful in the treatment and follow-up of children with AD., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2020 Termedia Sp. z o. o.)

Background: Chronic disease of children can cause changes in the health-related quality of life (HrQoL) of the family members., Aims: To evaluate the HrQoL of healthy siblings of children with chronic disease., Study Design: Cross-sectional study., Methods: The study included healthy sibling of children with chronic disease (cerebral palsy, epilepsy, diabetes, celiac disease, hematologic/oncologic disease, or asthma) and healthy sibling of healthy children to evaluate the quality of life. We used the Pediatric Quality of Life Inventory questionnaire; the physical health and psychosocial health scores were calculated using the responses of the sibling and parent. The primary endpoint was the comparison of HrQoL scores of healthy siblings of children with chronic disease and that of healthy siblings of healthy children., Results: This study included a respective healthy sibling of 191 children with chronic disease and healthy sibling of 100 healthy children. The physical health, psychosocial health, and total health scores of healthy siblings of children with chronic disease were significantly lower than that of healthy siblings of healthy children (p<0.001). Among the healthy siblings of children with chronic disease, the lowest psychosocial health score was found in the siblings of children with cerebral palsy, hematologic/oncologic disease, and asthma (p<0.001). The global impact on the quality of life for healthy siblings of children with chronic disease was significantly higher in the self-report of the children than that of the parents (30.4% versus 15.1%, p<0.05)., Conclusion: Most healthy siblings of children with chronic disease are physically and psychosocially affected and there is low parental awareness of this condition. This can increase the risk of emotional neglect and abuse of these children. Therefore, special support programs are needed for the families of children with chronic diseases.

Background: The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height., Objective: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings., Methods: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly. The levels of basal serum thyroid hormones, oestradiol, total testosterone, follicle-stimulating hormone, luteinising hormone, and stimulated growth hormone (GH) were measured to investigate the endocrine aspects of the syndrome. Mutation analysis was carried out in all six exons and exon-intron boundaries of SLC29A3 by direct sequencing., Results: Physical examination of the patients revealed common charac-teristic findings of H syndrome. Additional clinical findings were sectorial iris atrophy in the younger sister. Laboratory evaluation revealed microcytic anaemia, markedly increased erythrocyte sedimentation rate and C-reactive protein levels, and humoral immune deficiency in the younger siblings, who presented with recurrent fever and sinopulmonary infection. Two different GH stimulation tests revealed GH deficiency in the younger sister with short stature. Liver and skin biopsies revealed polyclonal lymphohistiocytic and plasma cell infiltration. Sequencing of SLC29A3 in the three siblings revealed a novel homozygous mutation in exon 6, which caused the transition of arginine to tryptophan., Conclusion: This study not only extended the clinical and mutation spectrum of SLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children., (© 2019 S. Karger AG, Basel.)

Aim: It has been shown by a great number of studies that the correct use of adrenaline auto injectors prescribed to patients with anaphylaxis is associated with the design of the auto injector, in addition to training. The aim of this study was to compare the skills of adults in using two different auto injectors prescribed to patients with anaphylaxis., Material and Methods: Parents of patients aged between 1 and 18 years who referred to allergy outpatients were included in the study., Results: A total of 630 volunteers from nine centers were included in the study. Four hundred fifty-seven (72.5%) of the participants were females and 235 (37.3%) were undergraduates. The rate of showing all the steps of auto injector trainers correctly by the participants was found as (60.2%) (n=379) for EpiPen and 42.9% (n=270) for Penepin (p<0.001). The most frequent mistake with both auto injector trainers was the step of "place appropriate injection tip into outer thigh/press the trigger so it clicks." When the preferences of the volunteers were asked after training and application, 527 (83.7%) chose EpiPen, stating that it was easier and simpler to use., Conclusions: Our study showed that the correct usage rates of both adrenaline auto injectors were much lower than expected and there could be mistakes in the application of both. It could be appropriate to make improvements in the design of Penepin, which is still the only available adrenaline auto injector in Turkey, such that its application steps will be simpler and quicker., Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare.

Increased thrombophilic tendency in patients with cystic fibrosis (CF) has recently been reported. The determinants of thrombosis in children with CF remain largely unknown. Our aim in this study was to evaluate the thromboelastography (TEG) profile of children with CF through ROTEM (whole blood rotation thromboelastometry). Nineteen patients with CF and 20 controls were included in the study. Whole blood count, prothrombin time, activated prothrombin time, fibrinogen, d-dimer levels, and ROTEM assays (INTEM, EXTEM) were performed. Clotting time, clot formation time (CFT), and maximum clot firmness (MCF) were determined by INTEM and EXTEM analysis. In INTEM assay, MCF ( P = .001) value was significantly increased and CFT ( P = .031) value was decreased in patients with CF compared with those of the control group. In the EXTEM assay, there was a similar significant increase in MCF ( P = .023) value in patients with CF compared with that of the control group. There was a significant positive correlation between fibrinogen levels and MCF in EXTEM ( r = .72) and INTEM ( r = .76) assays, whereas there was a negative correlation with CFT in EXTEM ( r = -.61) and INTEM ( r = -.67). The results of our study indicated that TEG profiles in patients with CF were more hypercoagulable compared with those of the control group.

Background: Allergic rhinitis is a type I allergic disease of the nasal mucosa, and is characterized by paroxysmal sneezing, watery rhinorrhea, and nasal blockage. In seasonal allergic rhinitis subjects, even subthreshold allergen doses have been found to cause inflammatory cell infiltration in the nasal mucosa. This study aimed to investigate the presence of nasal obstructions and symptoms in seasonal allergic rhinitis subjects by assessing an exercise challenge test (ECT) outside of the pollen season., Methods: Twenty patients and 20 healthy children who were admitted to the Osmangazi University Medical School Pediatric Allergy Clinic were included in the study in a pollen free season. The total nasal airflow and visual analog scale (for rhinorrhea, nasal congestion, sneezing, and itching) and pulmonary function tests were evaluated before and after each ECT. The nasal airflow and resistance changes were evaluated with anterior rhinomanometry., Results: Eight patients and one healthy child had nasal obstructions after the ECT. There was a significant difference in the exercise-induced nasal obstructions between the 2 groups (p = 0.02). Eighteen children with exposure to tobacco smoke in the patient and control groups had lower forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC), and forced expiratory flow 25% to 75% (FEF25-75 ) values than the children without exposure to tobacco smoke., Conclusion: The prevalence of exercise-induced nasal obstruction in children with seasonal rhinitis out of the pollen season is 40%. We showed that minimal persistent inflammation and nasal symptoms can also be diagnosed in rhinitis children in a symptom-free period., (© 2014 ARS-AAOA, LLC.)

Background: Knowledge of factors that affect relapse will allow close monitoring of patients at risk, resulting in a decreased rate of readmission to the emergency department., Objective: To determine risk factors associated with relapse within 7 days after treatment of asthma exacerbations in children., Methods: This was a multicenter, prospective study of children with asthma attacks. Patients between the ages of 6 months and 17 years who met the criteria between June 2009 and September 2012 were considered., Results: The study included 1177 patients (775 males [65.8%]) with a mean (SD) age of 70.72 (48.24) months. Of them, 199 (16.9%) had a relapse within 1 week after being discharged from the hospital. Factors independently associated with relapse identified by a logistic regression model for the 1,177 study visits were having taken a short-acting inhaled β2-agonist within 6 hours before admission (odds ratio [OR], 2.43; 95% confidence interval [CI], 1.728-3.426; P = .001), presence of retraction on physical examination (OR, 1.76; 95% CI, 1.123-2.774; P = .01), no prescription for high-dose inhaled steroids on release (OR, 2.02; 95% CI, 1.370-3.002; P < .001), and not being given a written instructional plan (OR, 1.55; 95% CI, 1.080-2.226; P = .02)., Conclusion: Whereas having taken short-acting β2-agonists within 6 hours before admission and the presence of retractions on physical examination increased the risk of relapse after treatment of the acute attack, being given high-dose inhaled steroids and a written instructional plan when being sent home reduced the risk., (Copyright © 2014 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

Background: No reagents have been shown to be effective in preventing wheezing attacks provoked by acute respiratory tract illnesses (ARTIs) in preschool children. New therapeutic agents and preventive strategies are needed., Objectives: We assessed the effect of OM-85 BV (Broncho-Vaxom; OM Pharma, Geneva, Switzerland) in preventing ARTI-provoked wheezing attacks in preschool children with recurrent wheezing., Methods: A randomized, double-blind, placebo-controlled, parallel-group study was carried out between August 2007 and September 2008. The study included 75 children with recurrent wheezing who were 1 to 6 years old. Participants were randomly assigned to groups given either OM-85 BV or a placebo (1 capsule per day for 10 days each month for 3 consecutive months) at the start of the trial. Participants were followed for 12 months, which included the administration period of the test article., Results: Subjects given OM-85 BV had a lower rate of wheezing attacks. The cumulative difference in wheezing attacks between the 2 groups was 2.18 wheezing attacks per patient in 12 months; there was a 37.9% reduction in the group given OM-85 BV compared with the group given placebo (P < .001). Stepwise multiple (linear) regression analysis showed that the main difference between the OM-85 BV and placebo groups was a reduction the number of ARTIs (R = -0.805, P < .001). The duration of each wheezing attack was 2 days shorter in the group given OM-85 BV than in the group given placebo (P = .001)., Conclusion: Administration of OM-85 BV significantly reduced the rate and duration of wheezing attacks in preschool children with ARTIs., (Copyright © 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.)