Publications by authors named "Nagehan Emiralioglu"

56 Publications

Validity and reliability study of coronavirus-related psychiatric symptom scale in children - parental form.

Turk Arch Pediatr 2021 1;56(3):200-206. Epub 2021 May 1.

Department of Pediatric Pulmonology, Hacettepe University School of Medicine, Ankara, Turkey.

Objective: The aim of this study is to develop a scale to assess the psychiatric symptoms that may emerge owing to the coronavirus disease 2019 (COVID-19) pandemic period in children and adolescents aged 4-18 years.

Material And Methods: To develop the scale, first, interviews with children, adolescents, and their parents were conducted, and the possible psychiatric symptom clusters were detected. The items were written with reference to the literature and reviewed by the experts. A 40-item scale form was shared as an online survey, and a factor analysis of the scale was carried out with data obtained from 441 participants. The test-retest reliability of the scale was carried out with data obtained from the 51 participants who filled the scale again after 14 days.

Results: According to the item-total correlations and factor analysis results with 40 items, 5 items with low correlation and factor load or loaded same under the two factors were removed from the scale. The final form had 35 items and had a two-factor structure. The internal consistency coefficient of the scale was calculated as 0.96, and the test-retest correlation coefficient was 0.98.

Conclusion: Coronavirus-related psychiatric symptom scale in children - parental form is a valid and reliable scale for measuring perceived psychiatric symptoms associated with COVID-19pandemic in children aged 4-18 years by their parents.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5152/TurkArchPediatr.2021.20256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8152656PMC
May 2021

Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.

Am J Med Genet A 2021 May 7. Epub 2021 May 7.

Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = -0.594, p = .009; r = -0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.62229DOI Listing
May 2021

Clinical characteristics of children with cystic fibrosis infected with unusual bacteria.

Minerva Pediatr (Torino) 2021 Apr 15. Epub 2021 Apr 15.

Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

Objectives-aim: Pulmonary infections are usually caused by bacterial microorganisms such as Pseudomonas aeruginosa, Staphylococcus aureus, Haemophilus influenzae, and Burkholderia cepacia complex in cystic fibrosis (CF) patients. Unusual bacteria (UB) have been described by new isolation techniques recently in the respiratory samples of CF patients. The aim is to investigate the effects of the presence of UB in the respiratory cultures of CF patients on clinical outcomes, necessity of treatment and prognosis.

Methods: The UB were identified by MALDI-TOF (matrix-assisted laser desorption/ionization time-of-flight) mass spectrometry technology.

Results: Rhizobium radiobacter were detected in 2, Chyrseobacterium species (gleum and indolgenes) in 5, Aeromonas hydrophila in 1, Orchobacterium anthropy in 1,Wautersiella falsenii in 1, Leclercia adecarboxylata in 1, Delftia acidovorans in 1, Cupriavidus Gilardi in 1, R.radiobacter twith Elizabethkingia miricola in 1 and R.radiobacter with C.gleum in 1 patient. Median age of the first UB growth was 3 years. After the first UB growth, the median follow-up time was 15 months. Before the UB growth, 60.0% of the patients had respiratory colonization with methicillin-susceptible S.aureus (MSSA). UB growth were accompanied with MSSA in 66.6% of the patients. Median percentage of FEV1 before and during the UB growth for patients who could perform spirometry, were 80 and 102, respectively. Median body mass index before and during the UB growth were 16 and 16.2, respectively. These UB were not detected during the follow-ups except in one patient.

Conclusions: The UB growth did not cause any additional symptoms and decrease in BMI and FEV1 in patients with CF. MSSA may be a facilitating factor for UB growth as majority of the patients had MSSA colonization before and during the UB growth.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.23736/S2724-5276.21.06189-2DOI Listing
April 2021

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

Respir Med 2021 May 28;181:106376. Epub 2021 Mar 28.

Hacettepe University, Ihsan Dogramacı Children's Hospital, Pediatric Pulmonology, Ankara, Turkey. Electronic address:

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. Accompanied diseases and swallowing dysfunction symptoms were questioned. Bronchoalveolar lavage results were investigated if the patient had flexible bronchoscopy.

Results: A total of 71 children with EA were included in the study, and seven patients who did not have follow-up after surgery were excluded. 46 of the 64 patients continue regular follow-up visits in our department. Male sex, primary EA repair in another center, EA type C, accompanying genetic anomalies, severe tracheomalacia, late per oral feeding (1 year after surgery), and severe GER were found to cause significantly higher incidence of coughing, recurrent wheezing, recurrent pneumonia, and bronchiectasis despite surgical and medical treatments (p = 0.048, p = 0.045, p = 0.009, p = 0.029, p = 0.025). CONCLUSİON: Even if anatomical anomalies are corrected by surgery in patients who underwent EA repair, precautions can be taken for GERD, laryngotracheomalacia, and swallowing dysfunction, and effective pulmonary rehabilitation can be initiated with early multidisciplinary approach before the development of respiratory tract symptoms.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2021.106376DOI Listing
May 2021

Does cystic fibrosis make susceptible to celiac disease?

Eur J Pediatr 2021 Mar 25. Epub 2021 Mar 25.

Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Patients with cystic fibrosis (CF) have a higher incidence of celiac disease (CD) than the healthy population; however, the actual incidence of coexisting CF and CD is unclear. In this report, we aimed to evaluate the frequency of CD and CF coexistence and to assess the clinical findings of affected patients during follow-up. We conducted a retrospective review of patients with CF to reveal the frequency of CD and also investigated the clinical characteristics and clinical response to gluten-free diet in patients with CD. The incidence of CD in 515 patients with CF was 1.4%. The median age at the time of CF diagnosis was 2 months (1-6 months). CD was diagnosed in six patients with poor weight gain, fatty stools, and low z score for BMI and one patient with poor weight gain despite a high protein and calorie diet and pancreatic enzyme replacement. The median age of CD diagnosis was 8 years (2-12 years). Except for one patient who was recently diagnosed, the other six patients gained weight and their accompanying symptoms resolved after starting a gluten-free diet.Conclusion: CD should be investigated in patients with CF in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. What is Known: • CFTR dysfunction may be a risk factor for CD, due to increased intestinal permeability and intestinal inflammation, pancreatic exocrine insufficiency that results in higher antigen load and increased antibodies against to nutritional antigens such as anti-gliadin IgA antibodies. • Although coexistence of CF and CD are rare in the same patient; there is still no consensus on when children with CF should be screened for CD. What is New: • Physicians should consider the investigation of CD in patients with CF, in the presence of inadequate weight and/or height gain or poor control of malabsorption symptoms despite appropriate and adequate nutritional and enzyme replacement treatment. • CFTR dysfunction has been emphasized to develop susceptibility to CD, and patients with CF who have persistent gastrointestinal symptoms despite appropriate and adequate nutritional and enzyme replacement treatment should be screened for CD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-021-04011-4DOI Listing
March 2021

The Frequency and Related Factors of Non-Tuberculosis Mycobacteria Infections among Patients with Cystic Fibrosis.

Pediatr Int 2021 Mar 7. Epub 2021 Mar 7.

Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

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 2012-2020.

Results: Ten patients (2.1 %) had at least one positive NTM culture from respiratory samples. All of them were vaccinated with Bacille Calmette-Guérin (BCG) vaccine which it is in the national vaccination program in our country. Eight patients had Mycobacterium abscessus complex (MABSC), one had Mycobacterium avium and one had Mycobacterium szulgai growth in their respiratory samples. Three patients had transient, 2 had persistent and 5 had active NTM infection (NTM pulmonary disease). Patients with NTM pulmonary disease received antibiogram directed antimycobacterial therapy. In patients with NTM pulmonary disease, the median ppFEV1 and BMI decreased by 17% and 1%, respectively, at the time of the first NTM isolation when compared with the values one year before first NTM isolation. Culture conversion was not seen in any patient infected with MABSC.

Conclusions: The NTM infection incidence is lower in our country than those countries where the BCG vaccine is not routinely applied. The BCG vaccine may be a protective factor for NTM infection. Further studies are needed about the prevalence of NTM infections, facilitating and protective factors and appropriate management of NTM infections in patients with CF.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.14688DOI Listing
March 2021

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!

Clin Genet 2021 Jun 28;99(6):789-801. Epub 2021 Feb 28.

Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.

Aminoacyl-tRNA synthetases (ARSs) catalyze the first step of protein biosynthesis (canonical function) and have additional (non-canonical) functions outside of translation. Bi-allelic pathogenic variants in genes encoding ARSs are associated with various recessive mitochondrial and multisystem disorders. We describe here a multisystem clinical phenotype based on bi-allelic mutations in the two genes (FARSA, FARSB) encoding distinct subunits for tetrameric cytosolic phenylalanyl-tRNA synthetase (FARS1). Interstitial lung disease with cholesterol pneumonitis on histology emerged as an early characteristic feature and significantly determined disease burden. Additional clinical characteristics of the patients included neurological findings, liver dysfunction, and connective tissue, muscular and vascular abnormalities. Structural modeling of newly identified missense mutations in the alpha subunit of FARS1, FARSA, showed exclusive mapping to the enzyme's conserved catalytic domain. Patient-derived mutant cells displayed compromised aminoacylation activity in two cases, while remaining unaffected in another. Collectively, these findings expand current knowledge about the human ARS disease spectrum and support a loss of canonical and non-canonical function in FARS1-associated recessive disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13943DOI Listing
June 2021

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

Pediatr Pulmonol 2021 May 31;56(5):910-920. Epub 2020 Dec 31.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Sıhhiye, Ankara, Turkey.

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. We performed targeted real-time polymerase chain reaction based transcriptomic analysis of nasal epithelial cells obtained from two families with two siblings with Class II mutations (F508del/F508del) and (F508del/G85E), one family with three siblings with Class IV mutation (I1234V/I1234V). In severe siblings with Class II mutations, TNFRSF11A, KCNE1, STX1A, SLC9A3R2 were found to be up regulated. CXCL1, CFTR, CXCL2 were found to be down regulated. In the severe sibling with Class IV mutation; mainly genes responsible from complement and coagulation system were identified. Comparison of CF patients to non-CF control; showed that ICAM1 was up regulated whereas EZR, TNFRSF1A, HSPA1A were down regulated in patients. As a result of this study, differentially expressed genes responsible for clinical severity among affected siblings carrying the same mutation were identified. The results will provide an opportunity for the development of novel target molecules for treatment of disease.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.25237DOI Listing
May 2021

COVID-19 Treatment at a Glance.

Turk Thorac J 2020 Nov 1;21(6):438-445. Epub 2020 Nov 1.

Department of Nursing, Yeditepe University, School of Health Sciences, İstanbul, Turkey.

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. The process of developing a vaccine is long and requires hard work. Although the pathophysiology of the disease is not fully understood, some of the proposed treatment alternatives are based on old evidence and some have been used with the idea that they might work owing to their mechanism of action. The efficacy, reliability, and safety of the currently available treatment alternatives are therefore a matter of debate. Currently, the main therapies used in the treatment of COVID-19 are antiviral drugs and chloroquine/hydroxychloroquine. Other proposed options include tocilizumab, convalescent plasma, and steroids, but the mainstay of the treatment in intensive care units remains supportive therapies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5152/TurkThoracJ.2020.20125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752114PMC
November 2020

Risk factors for recurrent pulmonary exacerbation in idiopathic pulmonary hemosiderosis.

Pediatr Pulmonol 2021 May 17;56(5):1060-1068. Epub 2021 Mar 17.

Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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. Also, current information and the long-term progress of patients was determined by contacting the families by telephone.

Results: A total of 54 children were included. The median age of onset of symptoms was 4.5 years (3 months to 15.8 years). The median time from onset to diagnosis was 0.9 years (0.25 months to 12 years). The mean number of recurrent episodes per child in the recurrence-positive group was 3.55 (1-15). Univariate analysis demonstrated that patients presenting with hypoxia or requiring transfusion at the time of presentation had significantly more recurrence episodes (p = .002). Multivariate analysis showed that the presence of hypoxia at the time of initial presentation was a significant independent predictor of recurrent episodes (p = .027). The median follow-up was 3.3 years (0.75 months to 27 years). There was a significant relationship between the presence of hypoxia, transfusion history, antinuclear antibody positivity, and elevated transaminases at the time of initial evaluation and treatment response.

Conclusions: The present study provides substantial information regarding factors that may affect recurrent exacerbations and prognosis in children with IPH. Demonstrating hypoxia as an independent risk factor in recurrence episodes could guide physicians in the planning of treatment strategies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.25189DOI Listing
May 2021

Nonmyeloablative hematopoietic stem cell transplantation in a patient with hereditary pulmonary alveolar proteinosis.

Pediatr Pulmonol 2021 02 24;56(2):341-343. Epub 2020 Nov 24.

Department of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.25174DOI Listing
February 2021

Current Approach in the Diagnosis and Management of Allergic Bronchopulmonary Aspergillosis in Children With Cystic Fibrosis.

Front Pediatr 2020 20;8:582964. Epub 2020 Oct 20.

Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Allergic bronchopulmonary aspergillosis (ABPA) is a complex pulmonary disorder characterized by a hypersensitivity reaction to , and almost always seen in patients with cystic fibrosis (CF) and asthma. Fungal hyphae leads to an ongoing inflammation in the airways that may result in bronchiectasis, fibrosis, and eventually loss of lung function. Despite the fact that ABPA is thought to be more prevalent in CF than in asthma, the literature on ABPA in CF is more limited. The diagnosis is challenging and may be delayed because it is made based on a combination of clinical features, and radiologic and immunologic findings. With clinical deterioration of a patient with CF, ABPA is important to be kept in mind because clinical manifestations mimic pulmonary exacerbations of CF. Early diagnosis and appropriate treatment are important in preventing complications related to ABPA. Treatment modalities involve the use of anti-inflammatory agents to suppress the immune hyperreactivity and the use of antifungal agents to reduce fungal burden. Recently, in an effort to treat refractory patients or to reduce adverse effects of steroids, other treatment options such as monoclonal antibodies have started to be used. Intensive research of these new agents in the treatment of children is being conducted to address insufficient data.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3389/fped.2020.582964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7606581PMC
October 2020

Telephone surveillance during 2019 novel coronavirus disease: Is it a helpful diagnostic tool for detecting acute pulmonary exacerbations in children with chronic lung disease?

J Telemed Telecare 2020 Nov 12:1357633X20972008. Epub 2020 Nov 12.

Department of Pediatric Pulmonology, Hacettepe University, Turkey.

Introduction: The global burden of the 2019 novel coronavirus disease pandemic on the healthcare system, as well as the high transmission risk of coronavirus disease has led to the use of alternative strategies for evaluation of children with chronic conditions. In this context, telemedicine has become the effective and affordable choice. In this study we aimed to evaluate the efficiency of telephone visits to determine pulmonary exacerbations and hospitalization rates of children with cystic fibrosis and interstitial lung disease.

Methods: A total of 119 children with cystic fibrosis or interstitial lung disease were enrolled and provided cases in which telephone visits were applied during the peak time of the coronavirus disease pandemic in our country. The recordings of respiratory, gastrointestinal and other symptoms, nutrition status, rate of acute pulmonary exacerbation, treatments initiated by telephone visits, referral to hospital and hospitalization were established from the electronic health reports of the patients.

Results: Thirteen patients (10.9%) were symptomatic, 12 of them (10%) were diagnosed with acute pulmonary exacerbation. One patient was diagnosed with peripheral facial paralysis. Nine patients were recalled to the hospital and seven patients (5.8%) were hospitalised.

Discussion: Using telemedicine the health status of patients can be defined, and patients can be guided on proper healthcare that they need, especially during the times of pandemics which we are facing. Communication with patients while minimising the risk of exposure to coronavirus disease is an important advantage of telemedicine. Telemedicine will have to be implemented on our daily medical practice in the near future.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/1357633X20972008DOI Listing
November 2020

Psychiatric and general health effects of COVID-19 pandemic on children with chronic lung disease and parents' coping styles.

Pediatr Pulmonol 2020 12 28;55(12):3579-3586. Epub 2020 Sep 28.

Department of Pediatric Pulmonology, School of Medicine, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

Background: We aim to assess the anxiety and depressive symptoms related to the COVID-19 pandemic in children with chronic lung disease and their parents and also to evaluate parents' coping strategies.

Methods: Parents of children aged 4-18 years, with chronic lung disease (study group n = 113) and healthy control (n = 108) were enrolled in the study. General Health Questionnaire-12, specific COVID-19 related anxiety questions, The Coping Orientation to Problems Experienced inventory, coronavirus-related psychiatric symptom scale in children-parental form were used to analyze the psychiatric effects of COVID-19. Parents were also asked about how online education affected their family life and children. All data were compared between children/parents in the study and control groups. Risk factors related with anxiety scores of children were also analyzed.

Results: Talking about the pandemic, concern about coronavirus transmission, taking precaution to prevent coronavirus transmission, making pressure to protect from COVID-19 were significantly higher in parents within the study group (p < .05). Parents in the study group used more problem-focused coping than parents in the control group (p = .003). Anxiety symptoms score was higher in children of the study group (p = .007). Parents in the study group found online education more useful than parents in the control group.

Conclusion: Children with chronic lung diseases and their parents have more anxiety due to COVID-19 pandemic and these parents use more mature coping strategies to manage the stress of the pandemic. Longitudinal and larger studies should be done in all aspects of online education in children with chronic lung diseases.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.25082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7537125PMC
December 2020

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

Turk J Pediatr 2020 ;62(4):560-568

Departments of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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. Age, gender, symptoms, physical examination findings, pulmonary function tests, the diagnosis of ABPA, and airway culture results were recorded for every visit. Patients with Aspergillus growth on airway cultures were classified into different groups as ABPA, Aspergillus sensitization, Aspergillus colonization and Aspergillus bronchitis.

Results: Medical records of 83 patients and 147 sputum cultures were attained from 100 patients. The mean age of the patients was 17.6±7.6 years and the mean age of the first Aspergillus growth in sputum culture was 12.5±6.7 years. At first isolation, Aspergillus fumigatus SC was the most common Aspergillus SC in sputum (76.3%) and 14.5% of these patients required hospitalization. Aspergillus sensitization was diagnosed in 3.6% (n= 3) of the patients. Aspergillus colonization was diagnosed in 18.1% (n= 15) of all patients and led to a decline in FEV1%, FVC% and FEF25-75% which was not statistically significant, furthermore. ABPA was detected in 9.6% (n= 8) of all patients and led to a statistically significant decline in FEV1% (p= 0.02); nonsignificant decline in FVC% and FEF25-75%. Aspergillus bronchitis was detected in 43.4% (n= 36) of all patients and led to nonsignificant decline in FEV1%, FVC% and FEF25-75%.

Conclusion: ABPA is recognized as the most common Aspergillus associated disorder in CF patients and is related to deteriorated pulmonary function tests; however Aspergillus colonization and bronchitis may also be associated with worsening lung function.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2020.04.005DOI Listing
January 2020

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

Clin Chim Acta 2020 Nov 18;510:252-259. Epub 2020 Jul 18.

Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey. Electronic address:

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. We also analyzed the effects of novel variants and predicted pathogenicity by integrating information from different insilico tools.

Results: We showed that mutation detection rate increased to 76.7% with direct sequencing of the coding region and exon/intron boundaries. Ten variants were described for the first time. All variants except T788R were reported as pathogenic.

Conclusion: Characterization of patients with CFTR mutations that occur at very low frequencies is necessary for mutation-based treatments. Population specific genetic screening panels should be designed since none of them are suitable for Turkish patients due to heterogeneous mutation distribution. The preliminary data obtained from in silico results of novel variants will pave the way for functional analysis by using samples obtained from patients. These observations will facilitate the discovery and development of new targeted and personalized therapies.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2020.07.033DOI Listing
November 2020

Lessons Learned so Far from the Pandemic: A Review on Pregnants and Neonates with COVID-19.

Eurasian J Med 2020 Jun;52(2):202-210

Department of Chest Diseases, Ataturk University School of Medicine, Erzurum, Turkey.

There are concerns regarding the risk and the course of COVID-19 in pregnancy and in the neonates. In this review, we aimed to present the current understanding of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection during pregnancy and neonatal periods considering diagnosis, treatment, prognosis, and prevention. Few studies on pregnant women with COVID-19 have been conducted between December 2019 and April 2020. The majority of patients applied in the third trimester and presented with fever and cough. Ground-glass opacities and consolidation on computed tomography were reported to be common. COVID-19 was proposed to have a milder course than SARS and the Middle East respiratory syndrome coronavirus in pregnant women. Hydroxychloroquine and antiproteases (lopinavir/ritonavir) were reported to be safe; however, therapeutic efficacy and safety of remdesivir still lack evidence. As ribavirin and favipiravir have teratogenic effects, there are some debates on the use of ribavirin in severe cases. There is still no clear evidence of vertical transmission of SARS-CoV-2 during delivery. Occupational safety issues of pregnant healthcare workers on the frontline should be considered as their risk to develop severe pneumonia is higher because of altered maternal immune response. Knowledge about neonatal outcomes of COVID-19 was based on studies of the last trimester of pregnancy. There is much to be learnt about COVID-19 in pregnant women and in the neonates, especially concerning prognosis- and treatment-related issues.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5152/eurasianjmed.2020.20118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311134PMC
June 2020

Unclear Issues Regarding COVID-19.

Eurasian J Med 2020 Jun;52(2):191-196

Department of Thoracic Surgery, Ondokuz Mayis University School of Medicine, Samsun, Turkey.

Scientists from all over the world have been intensively working to discover different aspects of Coronavirus disease 2019 (COVID-19) since the first cluster of cases was reported in China. Herein, we aimed to investigate unclear issues related to transmission and pathogenesis of disease as well as accuracy of diagnostic tests and treatment modalities. A literature search on PubMed, Ovid, and EMBASE databases was conducted, and articles pertinent to identified search terms were extracted. A snow-ball search strategy was followed in order to retrieve additional relevant articles. It was reported that viral spread may occur during the asymptomatic phase of infection, and viral load was suggested to be a useful marker to assess disease severity. In contrast to immune response against viral infections, cytotoxic T lymphocytes decline in SARS-CoV-2 infection, which can be partially explained by direct invasion of T lymphocytes or apoptosis activated by SARS-CoV-2. Dysregulation of the urokinase pathway, cleavage of the SARS-CoV-2 Spike protein by FXa and FIIa, and consumption coagulopathy were the proposed mechanisms of the coagulation dysfunction in COVID-19. False-negative rates of reverse transcriptase polymerase chain reaction varied between 3% and 41% across studies. The probability of the positive test was proposed to decrease with the number of days past from symptom onset. Safety issues related to infection spread limit the use of high flow nasal oxygen (HFNO) and continuous positive airway pressure (CPAP) in hypoxic patients. Further studies are required to elucidate the challenging issues, thus enhancing the management of COVID-19 patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5152/eurasianjmed.2020.20092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311136PMC
June 2020

What We Learned about COVID-19 So Far? Notes from Underground.

Turk Thorac J 2020 May;21(3):185-192

Department of Thoracic Surgery, Ondokuz Mayıs University School of Medicine, Samsun, Turkey.

The novel coronavirus pandemic poses a major global threat to public health. Our knowledge concerning every aspect of COVID-19 is evolving rapidly, given the increasing data from all over the world. In this narrative review, the Turkish Thoracic Society Early Career Taskforce members aimed to provide a summary on recent literature regarding epidemiology, clinical findings, diagnosis, treatment, prevention, and control of COVID-19. Studies revealed that the genetic sequence of the novel coronavirus showed significant identity to SARS-CoV and MERS-CoV. Angiotensin-converting enzyme 2 receptor is an important target of the SARS-CoV-2 while entering an organism. Smokers were more likely to develop the disease and have a higher risk for ICU admission. The mean incubation period was 6.4 days, whereas asymptomatic transmission was reported up to 25 days after infection. Fever and cough were the most common symptoms, and cardiovascular diseases and hypertension were reported to be the most common comorbidities among patients. Clinical manifestations range from asymptomatic and mild disease to severe acute respiratory distress syndrome. Several patients showed typical symptoms and radiological changes with negative RT-PCR but positive IgG and IgM antibodies. Although radiological findings may vary, bilateral, peripherally distributed, ground-glass opacities were typical of COVID-19. Poor prognosis was associated with older age, higher Sequential Organ Failure Assessment score, and high D-dimer level. Chloroquine was found to be effective in reducing viral replication in vitro. Likewise, protease inhibitors, including lopinavir/ritonavir, favipiravir, and nucleoside analogue remdesivir were proposed to be the potential drug candidates in COVID-19 management. Despite these efforts, we still have much to learn regarding the transmission, treatment, and prevention of COVID-19.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5152/TurkThoracJ.2020.20052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7311152PMC
May 2020

Variation in the bombesin staining of pulmonary neuroendocrine cells in pediatric pulmonary disorders-A useful marker for airway maturity.

Pediatr Pulmonol 2020 09 29;55(9):2383-2388. Epub 2020 Jun 29.

Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Objectives: Pulmonary neuroendocrine cells (NEC) increase with age due to pulmonary maturity. The aim of this study was to determine whether open lung biopsies from patients with interstitial lung diseases have increased pulmonary NEC compared with neuroendocrine cell hyperplasia of infancy (NEHI). Our second aim was to assess pulmonary NECs in the lung autopsy of children without lung disease who died from different causes.

Methods: Lung tissue of 5 infants with NEHI; 21 patients with pediatric interstitial lung disease (chILD); 17 lung autopsies of infants at varying age without lung disease were included. The percentage of the airways containing neuroendocrine cells, the average percentage of neuroendocrine cells (NECs) per airway, and the number of neuroendocrine bodies (NEBs) in each case were analyzed.

Results: The mean percentage of the airways containing neuroendocrine cells were 95% in the NEHI group, 30% in the chILD group, 89% under Intrauterine 37 weeks, 70% between intrauterine 37 to 40 weeks, 52% at postnatal 4 days to 6 months of autopsy ages. In the NEHI group, diffuse NE cell distribution and large NEBs were noticed in the lung biopsy. In the chILD group, neuroendocrine cells were dispersed, did not form clusters and NE cells showed solitary distribution. In the lung autopsy group, linear NE cells were detected at younger aged fetuses and solitary distribution of NE cells was detected with the older increasing age.

Conclusions: Our findings confirm that NECs are seen in many other childhood interstitial lung diseases; NE cell hyperplasia may be a marker of decreased pulmonary development and NE cells decrease with the increasing age of the fetus during Intrauterine life.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24910DOI Listing
September 2020

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

Pediatr Pulmonol 2020 09 26;55(9):2302-2306. Epub 2020 May 26.

Division of Pediatric Allergy and Immunology, Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, 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.

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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24854DOI Listing
September 2020

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

Pediatr Pulmonol 2020 08 4;55(8):2011-2016. Epub 2020 May 4.

Department of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey.

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. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS.

Results: Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS.

Conclusion: PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24805DOI Listing
August 2020

A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis.

Turk J Pediatr 2020 ;62(1):156-159

Departments of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by ciliary dysfunction. Patients may present with respiratory distress during neonatal period; chronic sinopulmonary disease, bronchiectasis, recurrent otitis media, sinusitis and infertility in later periods. About 50% of PCD patients have situs inversus totalis and 6-12% have situs ambiguous known as heterotaxy syndromes. Herein, we present a case of PCD and accompanying situs inversus who had acute abdominal pain and was diagnosed with torsion of one of the multiple spleens. Evaluation of acute abdominal pain in these patients has great importance since the internal organs are not at their typical locations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2020.01.024DOI Listing
January 2020

Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial.

Trials 2020 Apr 3;21(1):307. Epub 2020 Apr 3.

Department of Pediatrics, Dr. von Hauner Children´s Hospital, University Hospital, LMU Munich, German Center for Lung Research (DZL), Lindwurmstraße 4, 80337, Munich, Germany.

Background: Interstitial lung diseases in children (chILD) are rare and consist of many different entities that affect the parenchyma of the lungs, leading to a chronic lung disease. The natural course of many of these diseases is connected with a high morbidity and significant mortality. Symptomatic treatment consists of oxygen supplementation, adequate nutrition adapted to the high energy demand generated by the disease due to the increased breathing effort required, as well as immunization against respiratory pathogens to prevent exacerbations through respiratory infections. No proven pharmacological treatments are available to date. This placebo-controlled study aims to evaluate the efficacy and safety of the mid-term use of hydroxychloroquine in chILD.

Methods And Design: The study is an explorative, prospective, randomized, double-blind, placebo-controlled investigation of hydroxychloroquine (HCQ) in chILD. Patients can be included into the trial when diagnosed with a chronic (≥ 3 weeks' duration) diffuse parenchymal lung disease (chILD) (1) genetically defined, (2) histologically defined or (3) diagnosed with idiopathic pulmonary hemorrhage (hemosiderosis). The study contains of two different study blocks, a START and a STOP block, which can be initiated in any sequence. Each patient can participate in each block only once. In the START block subjects are randomized to parallel groups for 4 weeks treatment, then the placebo group is switched to the active drug. In the STOP block, subjects taking HCQ are randomized into parallel groups treated with placebo or HCQ.

Discussion: This study is the first international, investigator-initiated, prospective and controlled investigation of a pharmacological treatment in chILD. The block design was selected as it has the advantage of accommodating patients who are initiating or withdrawing from HCQ therapy, thus allowing the participation of those who were previously started on off-label HCQ. The cross-over design and selected outcome parameters enables us to include appropriate numbers of patients of all age groups from neonates to adults suffering from these rare diseases.

Trial Registration: This is an exploratory, Phase 2a, randomized, double-blind, placebo-controlled, parallel-group, multinational study investigating the initiation or withdrawal of hydroxychloroquine in subjects with chILD. Study title: Hydroxychloroquine in pediatric ILD: START randomized controlled in parallel groups, then switch placebo to the active drug, and STOP randomized controlled in parallel groups to evaluate the efficacy and safety of hydroxychloroquine (HCQ). Short title: HCQ in pediatric ILD, particularly 4surfdefect. EudraCT, ID: 2013-003714-40. Registered on 2 July 2013. ClinicalTrials.gov, ID: NCT02615938. Registered on 8 November 2015. IZKS trial code: 2013-006; Sponsor: University Hospital, Ludwig-Maximilians University of Munich. Responsible Party: Prof. Dr. med. Matthias Griese, University Hospital, Ludwig-Maximilians University of Munich, Germany.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13063-020-4188-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118852PMC
April 2020

Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children.

Pediatr Pulmonol 2020 05 2;55(5):1190-1198. Epub 2020 Mar 2.

Department of Pediatrics, Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background: Mannose-binding lectin (MBL) is a complement protein involved in the innate immune system, and is associated with some chronic respiratory diseases including noncystic fibrosis (non-CF) bronchiectasis in adults. The aim of this study was to investigate the frequency of MBL2 gene polymorphisms in children with non-CF bronchiectasis, and the effect of MBL deficiency on disease severity.

Methods: Fifty children with non-CF bronchiectasis (bronchiectasis group) and 50 healthy controls (control group) were included. The demographic findings, number of acute pulmonary exacerbations in the previous year, airway cultures, pulmonary function tests, and radiologic scores of the bronchiectasis group were recorded. DNA extraction was performed in both groups and MBL2 gene polymorphisms in codons 52, 54, 57 in exon 1 and H/L, Y/X in the promoter region were studied using real-time polymerase chain reaction. Haplotypes were made by genotypes, and MBL serum expression was classified according to the genotypes in the literature.

Results: The bronchiectasis group consisted of 23 (46%) patients with primary ciliary dyskinesia, 5 (10%) with primary immunodeficiency diseases, and 22 (44%) with idiopathic bronchiectasis. There were no statistically significant differences between the bronchiectasis and control groups in terms of allele and genotype frequencies of polymorphisms in codons 52, 54, 57 in exon 1 and promoter H/L. However, the YX heterozygote genotype was more frequent in the control group (82%) compared with the bronchiectasis group (50%) (P = .002). The frequency of patients with intermediate serum MBL expression genotype was higher in the bronchiectasis group (20%) than in the control group (0%) (P = .001). In the bronchiectasis group, there were no significant differences in growth, annual pulmonary exacerbation rates in the last year, pulmonary function tests, radiologic scores, and microbiologic findings between low, intermediate, and high-expressing genotypes.

Conclusions: In children with non-CF bronchiectasis, MBL genotype was different from healthy controls. MBL deficiency associated only with MBL genotype was not related to disease severity in this group of patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24711DOI Listing
May 2020

Deviations of body functions and structure, activity limitations, and participation restrictions of the International Classification of Functioning, Disability, and Health model in children with cystic fibrosis and non-cystic fibrosis bronchiectasis.

Pediatr Pulmonol 2020 05 28;55(5):1207-1216. Epub 2020 Feb 28.

Department of Child Health and Diseases, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background: To the best of our knowledge, there is no study in the literature investigating the extrapulmonary outcomes of children with non-cystic fibrosis (CF) bronchiectasis and CF under the framework of the International Classification of Functioning, Disability, and Health (ICF) model. The purpose of the present study is to evaluate the children with CF and non-CF bronchiectasis using the ICF model.

Materials And Methods: Children with CF, non-CF bronchiectasis, and healthy counterparts were evaluated (20 participants in each group) according to the ICF items in domain b (body functions), domain s (body structures), and domain d (activities and participation). The pulmonary functions, respiratory and peripheral muscle strength tests, and posture analysis were carried out for domain b. For domain d, however, the Glittre-activities of daily living test and Pediatric Outcome Data Collection were used.

Results: Muscle strength of shoulder abductors and hip extensors in children with CF was significantly lower than healthy children and adolescents (P < .05). The severity of lateral and posterior postural abnormalities in children with CF and non-CF bronchiectasis was higher than those of healthy children (P < .05). Among the patient groups, global function, sports/physical function, expectations, transfers/basic mobility, and pain/comfort were the most affected participation dimensions (P < .05).

Conclusions: This study highlights the need for comprehensive up-to-date evaluation methods according to the ICF model for understanding rehabilitation requirements in CF and non-CF bronchiectasis in different age groups.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24708DOI Listing
May 2020

From Diagnosis to Treatment of Pediatric Tuberculosis: Ten Years Experience in a Single Institution.

Clin Pediatr (Phila) 2020 05 22;59(4-5):476-482. Epub 2020 Feb 22.

Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

. To describe the patient characteristics, clinical-epidemiologic-microbiologic profile, and treatment outcomes, and to draw attention to tuberculosis (TB) in Turkey. . A retrospective, descriptive study was undertaken of 93 children aged 0 to 18 years who were admitted to Hacettepe University Pediatric Pulmonology Department for treatment from January 2005 to December 2015. Review of hospital records was performed for all children diagnosed as having TB. . Pulmonary TB was detected in 51.6% of the patients, extrapulmonary involvement in 33.3%, and pulmonary TB with extrapulmonary involvement in 15.1%. The history of contact with an adult with TB was found in 29% of cases. The most common extrapulmonary TB was TB lymphadenitis. The most common symptom was cough followed by fever and night sweats. One fifth of the patients had normal physical examinations at the time of diagnosis. One fifth (20.4%) of the patients had culture, 17.2% had polymerase chain reaction, and 15% had acid-resistant bacillus positivity. In 21.4% of patients with culture growth, at least one anti-TB drug resistance was found. The mean duration of treatment of patients treated according to the national guideline was 8.6 months (range = 6-36 months). Recovery was seen in 91.4% of patients. . The most important way to prevent childhood TB is to fight adult TB through early diagnosis and effective treatment. The presence of contact history must direct us to search for TB. While evaluating children with persisted nonspecific symptoms, TB must be kept in mind even if physical examinations are normal.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/0009922820906488DOI Listing
May 2020

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.

Pediatr Pulmonol 2020 02 25;55(2):383-393. Epub 2019 Nov 25.

Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background And Objective: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients.

Method: This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole-exome sequencing at our single center from a total of 265 patients with PCD within a 5-year period.

Results: Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months-4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m , and -0.78 and -1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25-75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD.

Conclusion: In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype-phenotype and clinical relationships will be identified in PCD.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.24583DOI Listing
February 2020

Childhood diffuse parenchymal lung diseases: We need a new classification.

Clin Respir J 2020 Feb 8;14(2):102-108. Epub 2019 Dec 8.

Faculty of Medicine, Radiology Department, Hacettepe University, Ankara, Turkey.

Introduction: Childhood diffuse parenchymal lung diseases (DPLD) are a heterogeneous group of respiratory disorders of both known and unknown causes that share common histological features. To date, there is not an exact consensus about the terminology, classification, therapy and follow up of this disease because of its rarity and wide clinical spectrum.

Objectives: In this study, we tried to classify our DPLD patients according to the last classification scheme (chILD Network Classification).

Methods: The files of the children diagnosed with DPLD at our university hospital between 1974 and 2012 were retrospectively investigated. Clinical features, laboratory, radiological and histopathological findings, therapy and follow-up outcomes of these patients were recorded and evaluated according to the actual information and definitions.

Results: We described 130 DPLD patients, the largest childhood DPLD series from a single center, classified in 16 distinct groups according to their diagnosis. Our largest group in this serie is pulmonary hemosiderosis (28.5%); idiopathic interstitial pneumonias, pulmonary hemosiderosis, sarcoidosis and lipid storage diseases with lung involvement represent the 70% of the diagnoses. When we classified our patients according to the chILD Network Classification; patients with idiopathic interstitial pneumonia older than 2 years, idiopathic pulmonary hemosiderosis, pulmonary alveolar microlithiasis and diffuse chondroid malformation of the lung stayed out of this classification.

Conclusion: To ensure a consensus about the therapy and follow up, we have to make revisions and reorganisations on the DPLD classification which was proposed in 2007. We need a new childhood DPLD classification that will cover all these disease groups.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/crj.13106DOI Listing
February 2020

The value of flexible bronchoscopy in pulmonary infections of immunosuppressed children.

Clin Respir J 2020 Feb 22;14(2):78-84. Epub 2019 Nov 22.

Division of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Objectives: To demonstrate the value of flexible bronchoscopy (FB) and bronchoalveolar lavage (BAL) when determining causes of lung infection in immunocompromised children; to investigate differences in causes and radiological features of lung infections following bone marrow transplantation (BMT) compared to other immunosuppressive conditions; to evaluate the reliability of radiological findings when predicting the pathogen.

Methods: We retrospectively evaluated 132 immunosuppressed children who underwent FB and BAL because pulmonary complications between January 1999 and May 2014 at the Hacettepe University Hospital Pediatric Pulmonology Unit. Two groups, Group I (n = 106) and Group II (n = 26), consisted of patients who had primary or secondary immunodeficiency and those who were immunosuppressed because BMT, respectively. Radiological findings before FB and macroscopic and microscopic findings of the procedure were evaluated.

Results: FB and BAL were diagnostic in 86/132 patients (65.1%) and the antimicrobial treatment changed for 75/132 patients (56.8%). The most common pathogen was bacteria (Streptococcus pneumoniae was the leading one). Bacteria were more frequent in Group I than Group II (P = .008). No significant difference in radiological findings between Groups I and II was found. Considering all patients, a significant association was detected between viral pathogens and radiologically interstitial infiltration and a ground-glass appearance (P = .003). However, no significant association was detected between bacterial and fungal pathogens and the radiological findings.

Conclusion: In immunosuppressed patients, FB and BAL should be evaluated early for clarifying the causative agents. Then, appropriate treatments can be utilised and the side effects and high cost of unnecessary treatment may be mitigated.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/crj.13103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162225PMC
February 2020