MRI evaluation of right heart functions in children with mild cystic fibrosis.

BACKGROUND: This study aimed to assess the ventricular anatomy, function of the right ventricle, and the haemodynamic findings of pulmonary artery in children with cystic fibrosis using cardiac MRI. PATIENTS: This prospective study consisted of 32 children with mild cystic fibrosis and 30 age-matched healthy control participants. METHODS: Cardiac MRI was used to assess right ventricular volumes, anatomy, and function and to assessment of haemodynamic findings of pulmonary artery in the control and study groups. Haemodynamic findings of pulmonary arteries were determined using pulmonary arteries peak velocity (cm/s), and pulmonary arteries time-to-peak velocity (ms) and pulmonary artery systolic pressure. All data of children with mild cystic fibrosis were compared with those of 30 age-matched healthy control group participants. RESULTS: Our patients and their age-matched controls were aged from 6 to 17 years and from 7 to 15 years, respectively. We found that ejection fraction (%), cardiac output (L/ml), cardiac output (L/ml/m2), and systolic volume (ml/m2) were significantly lower in children with cystic fibrosis (p < 0.01). Right ventricular anterior wall thickness (mm) was significantly higher in children with cystic fibrosis (p = 0.01). No significant difference was observed between the haemodynamic parameters of pulmonary artery in the patient group. CONCLUSION: In our study, cardiac MRI was used to investigate whether the right ventricle was affected functionally and anatomically in children with mild cystic fibrosis. We detected a significant decrease in right ventricular systolic functions and notable alterations in the right ventricular geometry of children with mild cystic fibrosis. These alterations usually manifest themselves as hypertrophy of the right ventricle. Our study's results demonstrate no relationship between the development of pulmonary hypertension in mild cystic fibrosis children.

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. METHODS: In this study, 359 of all 1,488 CF patients recorded in the CF Registry of Turkey in 2018, who had been born through the process of NBS, were evaluated. Demographic and clinical features were compared in patients diagnosed with positive NBS (Group 1), normal (Group 2), or without NBS (Group 3). RESULTS: In Group 1, there were 299 patients, in Group 2, there were 40 patients, and in Group 3, there were 20 patients. Among all patients, the median age at diagnosis was 0.17 years. The median age at diagnosis was higher in Groups 2 and 3 than in Group 1 (P = 0.001). Fecal elastase results were higher in Group 2 (P = 0.033). The weight z-score was lower and chronic Staphylococcus aureus infection was more common in Group 3 (P = 0.017, P = 0.004, respectively). CONCLUSIONS: Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis using NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.

New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene forkhead box protein 3 (FOXP3). IPEX patients frequently show chronic diarrhea (enteropathy) associated with villous atrophies in the small intestine. Our case is different from this classical information in the literature, since he presented with neonatal onset inflammatory bowel disease within the first months of life accompanied by deep ulcers throughout colonic mucosa. Moreover, he developed chronic lung disease during follow-up and histopathological examinations showed granulomas in both gastrointestinal tract and lung parenchyma. Genetic analysis revealed the diagnosis of IPEX syndrome with a germline mutation in FOXP3. Thus, our study provides an unusual presentation of IPEX syndrome with colitis and granulomas presence in histopathological examinations.

Assessment of Right Heart Functions in Children with Mild Cystic Fibrosis.

BACKGROUND: Cystic fibrosis (CF) is a multisystemic disease that prevalently involves the lungs. Hypoxemia occurs due to the existing of progressive damage to the pulmonary parenchyma and pulmonary vessels. The condition may cause systolic and diastolic dysfunction to the right ventricle due to the effects of high pulmonary artery systolic pressure (PASP). The study aimed to determine echocardiographic alterations in PASP, right ventricle (RV) anatomy, and functions in mild CF children. MATERIALS AND METHODS: RV anatomy, systolic, and diastolic functions were evaluated with conventional echocardiographic measurements. Estimated PASP was used measured with new echocardiographic modalities, including pulmonary artery acceleration time (PAAT), right ventricular ejection time (RVET), and their ratio (PAAT/RVET). The obtained echocardiographic data were statistically compared between the patient group and the control group. RESULTS: The study consisted of 30 pediatric patients with mild CF and 30 healthy children with similar demographics. In patient group, conventional parameters disclosed differences in RV anatomy, both systolic and diastolic functions of RV compared with the healthy group. We did not compare the patient group with published standard data because of the wide range variability. However, new echocardiographic parameters showed notable increase in pulmonary artery pressure compared with values of control group and published standard data (p<0.001). CONCLUSION: Elevated PASP, RV failure, and Cor pulmonale usually begin early in children with mild CF. In addition to routine echocardiographic measurements to evaluate RV, we recommend the use of new echocardiographic modalities for routine examinations and in the follow up of children with mild CF.

Post-intubation subglottic stenosis in children: Analysis of clinical features and risk factors.

BACKGROUND: Subglottic stenosis (SGS) is a complication that develops after intubation and is characterized by respiratory distress. The aim was to evaluate patients with post-intubation SGS and to discover the factors contributing to its development. METHODS: A total of 112 patients who had a history of intubation were included. The case group consisted of 50 patients with post-extubation persistent respiratory symptoms for which flexible bronchoscopy (FOB) was conducted and showed SGS. The control group consisted of 62 patient with no post-extubation persistent respiratory symptoms, for whom FOB was not done (n = 54), and who had post-extubation persistent respiratory symptoms and underwent FOB, which did not show subglottic stenosis (n = 8). RESULTS: No significant differences were detected related to age, gender, and gestational age. The median number of recurrent intubations was 2.5 and 3 in the case group and in control group, respectively (P = 0.14). The median duration of intubation was 20.5 days in the case group, and 6 days in the control group (P < 0.001). The Myer-Cotton classification indicated a degree of obstruction of grade 1 (mild) in 30% (n = 15), grade 2 in 16% (n = 8), grade 3 in 48% (n = 24), and grade 4 in 6% (n = 3) of the case group. CONCLUSION: The duration of intubation was found to be a significant risk factor for SGS development. Age at intubation, gender, gestational age, indication of intubation, and the number of recurrent intubations were found to have no significant association. Patients with post-extubation persistent respiratory problems, especially those with prolonged intubations, should be evaluated for SGS.

Short-term azithromycin use is associated with QTc interval prolongation in children with cystic fibrosis.

BACKGROUND: Azithromycin is used for children with cystic fibrosis (CF) for its immunomodulatory and anti-inflammatory action. This study investigated the short-term alterations in QTc interval associated with azithromycin prophylaxis in pediatric patients with CF. METHODS: This study included 121 patients with mild CF, of whom 76 received azithromycin (patient group) and 45 did not receive azithromycin (control group). The patient and control groups were categorized according to age as under 12 years of age and over 12 years of age. The first presentation measured all the patient and control groups at basic QTc time intervals. The QTc intervals of all patients were then remeasured systemically at 1, 3, and 6 months. Age categories and QTc intervals that were calculated at each month in the patient and control groups were compared statistically. RESULTS: A statistically significant difference was detected in the patient group between the initial QTc interval time and the electrocardiogram (ECG) findings in the first and third months after prophylaxis treatment (p < 0.001; p = 0.01). However, no statistically significant difference was detected in the sixth month (p > 0.05) in all groups. Almost all of the children's QTc intervals were within normal range and within the safety zone (under 0.44 s). No statistically significant difference was detected in the control group between the initial ECG and the QTc intervals measured at 1, 3, and 6 months. CONCLUSION: Short-term use of azithromycin prophylaxis in pediatric patients with mild CF slightly increased the QTc interval in the first and third months of follow-up. Nevertheless, all QTc interval changes fell within the safety zone. Notably, 1 month of follow-up treatment should be performed to check for any alteration in the QTc interval. If increased QTc interval duration is not detected in the first month, azithromycin prophylaxis can be safely prescribed.

Long-term outcomes of standardized training for caregivers of children with tracheostomies: The IStanbul PAediatric Tracheostomy (ISPAT) project.

BACKGROUND AND OBJECTIVES: Children with tracheostomies are at increased risk of tracheostomy-related complications and require extra care. Standardized training programs for caregivers can improve tracheostomy care and reduce complications. In this study, we compared caregiver knowledge and skill scores after a standardized theoretical and practical training program on tracheostomy care (IStanbul PAediatric Tracheostomy (ISPAT) project) immediately and 1 year post-training and evaluated how this training affected the children's clinical outcomes. MATERIALS AND METHODS: We included 32 caregivers (31 children) who had received standardized training a year ago and administered the same theoretical and practical tests 1 year after training completion. We recorded tracheostomy-related complications and the number and reasons for admission to the healthcare centers. All data just before the training and 1 year after training completion were compared. RESULTS: After 1 year of training completion, the median number of correct answers on the theoretical test increased to 16.5 from 12 at pretest (p < 0.001). Compared with pretest, at 1-year post-training practical skills assessment scores, including cannula exchange and aspiration, were significantly higher (both p < 0.001) and mucus plug, bleeding, and stoma infection reduced significantly (p = 0.002, 0.022, and 0.004, respectively). Hands-on-training scores were better than pretest but declined slightly at 1 year compared to testing immediately after training. Emergency admission decreased from 64.5% to 32.3% (p = 0.013). Hospitalization decreased from 61.3% to 35.5% (p = 0.039). CONCLUSION: Our findings indicate that caregiver training can lead to a persistent increase in knowledge and skill for as long as 1 year, as well as improvements in several measurable outcomes, although a slight decrease in scores warrants annual repetitions of the training program.

Factors associated with pulmonary function decline of patients in the cystic fibrosis registry of Turkey: A retrospective cohort study.

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.

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. 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.

Clinical and Radiological Evaluation and Follow-Up of Patients with Noncardiac Plastic Bronchitis.

OBJECTIVE: Plastic bronchitis (PB) is a rare disease characterized by obstruction of the airway by fibrinous mucus plugs. The etiology can be idiopathic or secondary to systematic diseases such as congenital heart diseases. Definitive diagnosis is made by pathological examination of the sputum or bronchial sample taken by bronchoscopy. In this study, the clinical status and treatment status of patients with PB were evaluated. MATERIALS AND METHODS: Medical records of the patients diagnosed as PB were reviewed ret- rospectively. Age, gender, clinical symptoms, radiology, bronchoscopic findings, and pathology results were documented. RESULTS: Six patients with PB were included in this study (female:male, 2:4). The median age of the diagnosis was 45 months. The most common symptoms are persistent wet cough and short- ness of breath. The duration of symptoms ranged from 30 to 90 days. Atelectasis was the most common radiological finding. Diagnosis was made with pathological examination of the mucus in all patients. All of the patients were treated with bronchoscopic removal of the mucus, and 4 patients required oral prednisolone therapy. Symptoms and radiological findings resolved completely in all patients. CONCLUSION: Although PB is a rare disease, it should be kept in mind in relation to patients with persistent radiological and clinical respiratory symptoms.

A pediatric case of Takayasu's arteritis with anti-neutrophil cytoplasmic antibody-associated vasculitis triggered by COVID-19 infection.

Takayasu's arteritis (TA) is a rare chronic granulomatous vasculitis characterized by large-vessel involvement. The aorta and its main branches are most commonly involved. Although pulmonary artery involvement is common, hemoptysis or respiratory findings are rarely seen. Herein, we present a case of TA who developed anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis with diffuse alveolar hemorrhage after coronavirus disease 2019 (COVID-19) infection. A 17-year-old female patient with the diagnosis of TA presented with cough, bloody vomiting, and diarrhea. In follow-up, she developed tachypnea and dyspnea and was transferred to the pediatric intensive care unit. The findings on the chest computed tomography were compatible with acute COVID-19 infection, but the SARS-CoV2 reverse transcription-polymerase chain reaction test was negative, but SARS-CoV2 immunoglobulin (Ig) G and IgM antibody tests were positive. The patient was not vaccinated against COVID-19. The bronchoscopy showed bronchial mucosal fragility, bleeding foci, and mucosal bleeding. The broncoalveolar lavage hemosiderin-laden macrophages were seen in the histopathologic examination. The indirect immunofluorescence assay-ANCA test became 3 (+) with myeloperoxidase (MPO)-ANCA of 125 RU/ml (normal: <20). Cyclophosphamide and pulse steroid treatment were started. After immunosuppressive therapy, the patient condition improved and did not have hemoptysis again. The successful response was obtained by applying balloon angioplasty to the patient with bilateral renal artery stenosis. Types of post-COVID vasculitis include thromboembolic events, cutaneous vasculitis, Kawasaki-like vasculitis, myopericarditis, and ANCA-associated vasculitis. It is thought that COVID-19 may impair immune tolerance and trigger autoimmunity with cross-reaction. To the best of our knowledge, the third pediatric case was reported with MPO-ANCA-positive COVID-associated ANCA vasculitis.

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). 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.

Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?

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.

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.

BACKGROUND: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by increased bone fragility and deformities. Although most patients with OI have heterozygous mutations in COL1A1 or COL1A2, 17 genes have been reported to cause OI, most of which are autosomal recessive (AR) inherited, during the last years. The aim of this study is to determine the mutation spectrum in Turkish OI cohort and to investigate the genotype-phenotype correlation. METHODS: 150 patients from 140 Turkish families with OI phenotype were included in this study. Mutations in OI-related genes were identified using targeted gene panel, MLPA analysis for COL1A1 and whole exome sequencing. 113 patients who had OI disease-causing variants were followed for 1-20 years. RESULTS: OI disease-causing variants were detected in 117 families, of which 62.4% in COL1A1/A2, 35.9% in AR-related genes. A heterozygous variant in IFITM5 and a hemizygous in MBTPS2 were also described, one in each patient. Eighteen biallelic variants (13 novel) were identified in nine genes (FKBP10, P3H1, SERPINF1, TMEM38B, WNT1, BMP1, CRTAP, FAM46A, MESD) among which FKBP10, P3H1 and SERPINF1 were most common. The most severe phenotypes were in patients with FKBP10, SERPINF1, CRTAP, FAM46A and MESD variants. P3H1 patients had moderate, while BMP1 had the mild phenotype. Clinical phenotypes were variable in patients with WNT1 and TMEM38B mutations. We also found mutations in ten genes (PLS3, LRP5, ANO5, SLC34A1, EFEMP2, PRDM5, GORAB, OCRL1, TNFRSF11B, DPH1) associated with diseases presenting clinical features which overlap OI, in eleven families. CONCLUSION: We identified disease-causing mutations in 83.6% in a large Turkish pediatric OI cohort. 40 novel variants were described. Clinical features and long-term follow-up findings of AR inherited OI types and especially very rare biallelic variants were presented for the first time. Unlike previously reported studies, the mutations that we found in P3H1 were all missense, causing a moderate phenotype.

Efficacy of standardized tracheostomy training with a simulation model for healthcare providers: A study by ISPAT team.

INTRODUCTION: Tracheostomy care in children may be challenging, due to lack of knowledge of healthcare providers (HCPs). The aim of this study was to determine the level of knowledge of HCP who follow patients with tracheostomy and to increase this level with theoretical training and training in a simulation laboratory. MATERIALS AND METHODS: ISPAT (IStanbul PAediatric Tracheostomy), a multidisciplinary team for tracheostomy care was established and a training program was prepared. Participants were subjected to theoretical and practical pretests which evaluated their knowledge levels and skills for care, follow-up, and treatment of a patient with tracheostomy. After the theoretical and practical training given to the participants with a simulation model, theoretical and practical posttests were applied. RESULTS: Fifty-one HCP from nine tertiary pediatric clinics in Istanbul were enrolled in the training program. Only six (11.8%) of them had received standardized training programs previously. Regarding the theoretical tests, seven of the 33 questions were indicated as essential. The knowledge level of the participants based on the essential questions significantly increased after the training (p < 0.05 for all of the essential questions). The total number of correct answers and correct answers of three subheadings also significantly increased after the practical training (p < 0.001 for all). Ninety-five percent of the participants assessed the course as good or excellent in general. CONCLUSION: Training in a simulation laboratory in combination with theoretical education can improve the knowledge and skills of the HCP enabling improved care of children with a tracheostomy.

The ISPAT project: Implementation of a standardized training program for caregivers of children with tracheostomy.

BACKGROUND: Tracheostomy-related morbidity and mortality mainly occur due to decannulation, misplacement, or obstruction of the tube. A standardized training can improve the skills and confidence of the caregivers in tracheostomy care (TC). OBJECTIVE: Our primary aim was to evaluate the efficiency of standardized training program on the knowledge and skills (changing-suctioning the tracheostomy tube) of the participants regarding TC. MATERIALS AND METHODS: Sixty-five caregivers of children with tracheostomy were included. First, participants were evaluated with written test about TC and participated in the practical tests. Then, they were asked to participate in a standardized training session, including theoretical and practical parts. Baseline and postintervention assessments were compared through written and practical tests conducted on the same day. RESULTS: A significant improvement was observed in the written test score after the training. The median number of correct answers of the written test including 23 questions increased 26%, from 12 to 18 (p < .001). The median number of correct steps in tracheostomy tube change (from 9 to 16 correct steps out of 16 steps, 44% increase) and suctioning the tracheostomy tube (from 9 to 17 correct steps out of 18 steps, 44% increase) also improved significantly after the training (p < .001, for both). CONCLUSION: Theoretical courses and practical hands-on-training (HOT) courses are highly effective in improving the practices in TC. A standardized training program including HOT should be implemented before discharge from the hospital. Still there is a need to assess the impact of the program on tracheostomy-related complications, morbidity, and mortality in the long term.

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. RESULTS: There were 1170 people with CF in 2017 and 1637 in 2019 CF registry. Eight hundred and fourteen people were registered in both 2017 and 2019 of whom z-scores of heights and BMI were significantly higher in 2019 (p = 0.002, p =0.039, respectively). Inhaled hypertonic saline, bronchodilator, and azithromycin usages were significantly higher in 2019 (p =0.001, p = 0.001, p = 0.003, respectively). The percent predicted of forced expiratory volume in 1 sec and forced vital capacity were similar in 2017 and 2019 (88% and 89.5%, p = 0.248 and 84.5% and 87%, p =0.332, respectively). Liver diseases and osteoporosis were significantly higher, and pseudo-Bartter syndrome (PBS) was significantly lower in 2019 (p = 0.011, p = 0.001, p = 0.001, respectively). CONCLUSIONS: The z-scores of height and BMI were higher, the use of medications that protect and improve lung functions was higher and incidence of PBS was lower in 2019. It was predicted that registry system increased the care of people with CF regarding their follow-up. The widespread use of national CF registry system across the country may be beneficial for the follow-up of people with CF.

Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.

OBJECTIVE: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease characterized by recurrent fractures, blue sclera, and hearing loss. Bisphosphonate treatment has been reported to decrease the annual number of fractures and improve the quality of life in patients with OI. The aim of this study is to evaluate the effect of bisphosphonate treatment in the Turkish OI cohort. METHODS: Sixty-five patients with OI, who were treated with pamidronate, were included in this study. The mean treatment duration was 47.1 ± 40 months (range:12-168 months). Bone mineral densitometry (BMD) and the mean number of annual fractures were compared before and after the treatment within groups, and the difference after treatment compared between the OI types. RESULTS: After pamidronate treatment, a significant decrease in the mean annual fracture, along with an increase in BMD Z-score was detected in all patients. Treatment duration did not affect BMD Z-score. However, there was a significant decrease in the mean annual number of fractures after 5 years of treatment (P = .048). After treatment, the decrease in the number of fractures was significant in OI type 3, and the increase in BMD Z-score was significant in OI type 4 when compared with OI type 1. Besides, pamidronate treatment relieved pain, and also corrected the platyspondyly radiologically in all OI groups. CONCLUSION: We demonstrated that pamidronate treatment improves the quality of life by reducing the number of fractures, relieving pain, and also protecting from deformities in all patients with OI.

Effects of long-term azithromycin therapy on auditory functions in children with chronic respiratory diseases.

BACKGROUND AND OBJECTIVES: In recent years, long-term azithromycin (AZT) use has been increased in pediatric patients with chronic respiratory tract problems. In this study, we aimed to assess auditory functions in children on long-term AZT therapy. METHOD: The study included 43 patients who received long-term AZT treatment and 27 age-matched, healthy controls. In the study and control groups, ear-nose-throat examination, pure tone audiometry, speech recognition threshold (SRT), speech discrimination score (SDS), uncomfortable loudness level (UCL), acoustic reflex tests, and otoacoustic emission tests were performed. The test results were statistically compared between groups. RESULTS: Mean age was 11.3 ± 0.56 years in the study group and 9.3 ± 3.07 years in the control group. The medain hearing examination was 8 months after end of AZT treatment (Ranged: 1-12 months). No significant difference was found in normal- and high-frequency audiogram tests at any frequency between study and control groups. Also, no significant difference was found in distortion product otoacoustic emissions (DPOAE) and transient evoked otoacoustic emissions (TEOAE) tests between groups. Also, there was no significant difference in acoustic reflex, SRT, SDS, and UCL test results between study and control groups. CONCLUSION: This is the first study assessing auditory functions comprehensively in pediatric patients who received long-term AZT therapy. In this study, it was shown that long-term AZT use had no deleterious effect on auditory function tests.

Tobacco use among working adolescents and high school students in Turkey: evaluating the effect of the national tobacco control policy.

BACKGROUND: In our previous published study conducted in 2006 before the national tobacco control program (NTCP), we found that working adolescents (WA) more frequently consumed cigarettes than high school students (HSS). The objective of the present study was to compare the smoking status of WA and HSS before and after the NTCP. METHODS: A questionnaire including questions about the participant`s socio-economic level and smoking status was administered. RESULTS: There were 668 subjects in the 2006 study and 869 subjects in the 2015 study. When we compared the 2015 results with the 2006 study, while there was a significant decline in the ever smokers (p < 0.001), there was no difference in current smokers in both the female and male WA groups. In the HSS group, there was a significant decline in ever smokers (p < 0.01), for both females and males. While there was a significant decline in current female smokers (p=0,002), no significant decrease was found in current male smokers (p > 0.05) in the HSS group. CONCLUSIONS: After the initiation of the NTCP, we have not seen a reduction in the smoking rates of both female and male WA and male HSS. The NTCP should particularly focus on the adolescent group in Turkey.