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  1. Article ; Online: Case of twin achondroplasia and autism coexistence and literature review.

    Bilgeç, Nagehan / Balasar, Özgür / Uzun, Necati / Pekcan, Sevgi / Bedel, Fayize Maden / Çaksen, Hüseyin

    Psychiatric genetics

    2023  Volume 33, Issue 6, Page(s) 243–250

    Abstract: Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and ... ...

    Abstract Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and microdeletion syndromes such as Phelan-McDermid syndrome helps to shed light on the genetic basis of autism spectrum disorder. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.
    MeSH term(s) Child, Preschool ; Humans ; Autism Spectrum Disorder/genetics ; Chromosome Deletion ; Chromosome Disorders/genetics ; Syndrome ; Diseases in Twins
    Language English
    Publishing date 2023-09-07
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1067837-2
    ISSN 1473-5873 ; 0955-8829
    ISSN (online) 1473-5873
    ISSN 0955-8829
    DOI 10.1097/YPG.0000000000000350
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    Zs.A 3165: Show issues Location:
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  2. Article ; Online: Childhood sarcoidosis in the middle Anatolia of Turkey.

    Hangül, Melih / Köse, Mehmet / Pekcan, Sevgi / Ersoy, Ali / Unal, Gokcen / Caglar, Hanife Tugce

    Pediatric pulmonology

    2023  Volume 58, Issue 9, Page(s) 2619–2627

    Abstract: Objective: This retrospective study aimed to describe the clinical and radiological features, diagnostic methods, laboratory findings, organ involvement, and treatment strategies of 22 patients who followed up with late-onset childhood sarcoidosis and ... ...

    Abstract Objective: This retrospective study aimed to describe the clinical and radiological features, diagnostic methods, laboratory findings, organ involvement, and treatment strategies of 22 patients who followed up with late-onset childhood sarcoidosis and compare them with the literature.
    Material and method: This retrospective multicenter study reviewed the medical records of 22 children with sarcoidosis who applied to the Pediatric pulmonology department of Erciyes University Faculty of Medicine and Necmettin Erbakan Faculty of Medicine in 2012 and 2022.
    Results: The mean age of the patients at the time of diagnosis was 13.1/year (interquartile range [IQR]1:6.3-[IQR]3:15.7). The most common first presenting symptom was cough 40.9% (n = 9), weight loss 31.8% (n = 7), and dyspnea 22.7% (n = 5). There were elevated levels of C-reactive protein (CRP; 59%), angiotensin-converting enzyme (ACE; 54.5%), erythrocyte sedimentation rate (ESR; 54.5%), and immunoglobulin G (IgG; 54.5%). Twenty patients (90%) received systemic steroid treatment. Eighteen (81.8%) of these patients responded positively to treatment. Two patients had a recurrence.
    Conclusion: The incidence of sarcoidosis in children in Turkey is currently unknown. However, a regional average of 2.2 cases per year has been documented for the first time. Contrary to previous studies, a significant prevalence of consanguineous marriage was observed in our study. While constitutional symptoms were most common in other studies, the cough was the most common symptom in our study. To our knowledge, this is one of the Turkish studies with the highest number of sarcoidosis in children and one of the few European studies on sarcoidosis in children.
    MeSH term(s) Humans ; Child ; Turkey/epidemiology ; Retrospective Studies ; Cough/etiology ; Sarcoidosis/drug therapy ; Sarcoidosis/epidemiology ; Sarcoidosis/diagnosis ; Radiography
    Language English
    Publishing date 2023-06-21
    Publishing country United States
    Document type Multicenter Study ; Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26564
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  3. Article ; Online: Use of Flexible Bronchoscopy in Foreign Body Aspiration.

    Ünal, Gökçen / Yılmaz, Aslı İmran / Tok, Tahir / Pekcan, Sevgi

    Turkish archives of otorhinolaryngology

    2022  Volume 60, Issue 2, Page(s) 88–94

    Abstract: Objective: Foreign body aspiration remains a serious health problem with a potential for severe consequences, and acute and chronic problems in children. It therefore demands immediate intervention. Rigid bronchoscopy has long been the method of choice ... ...

    Abstract Objective: Foreign body aspiration remains a serious health problem with a potential for severe consequences, and acute and chronic problems in children. It therefore demands immediate intervention. Rigid bronchoscopy has long been the method of choice for foreign body removal but is now being replaced by flexible bronchoscopy which offers reduced trauma and the ability to access distal bronchial regions. In the presented study we assessed the patients who underwent flexible bronchoscopy for foreign body removal in our clinic.
    Methods: We reviewed the records of 20 patients who underwent flexible bronchoscopy due to suspected foreign body aspiration and had a foreign body removed in our clinic. Patients were analyzed in terms of sociodemographic data, foreign bodies removed, method of foreign body removal, foreign body location and time to diagnosis.
    Results: Our study group included nine females and 11 males. The removed foreign body was organic in 19 of the 20 patients and inorganic in one patient. Hard organic food, such as hazelnuts, peanuts, seeds, almonds, and raw corn kernel were identified in 12 patients, a piece of fishbone in one patient and a piece of gelatin in another. The pieces of soft organic food identified were apple in one patient, egg in one patient, and boiled corn kernel in one patient and removed by suction. The foreign body was removed using forceps in nine patients, and a basket was used successfully in seven patients.
    Conclusion: Foreign bodies can be removed with minimal complication using flexible bronchoscopy, basket, and forceps in children.
    Language English
    Publishing date 2022-08-31
    Publishing country Turkey
    Document type Journal Article
    ISSN 2667-7474
    ISSN (online) 2667-7474
    DOI 10.4274/tao.2022.2022-6-6
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  4. Article ; Online: Inhaled Dry Powder Mannitol Treatment in Pediatric Patients with Cystic Fibrosis: Evaluation of Clinical Data in a Real-World Setting.

    Duman, Ipek / Ünal, Gokcen / Yilmaz, Asli Imran / Güney, Ahmet Yasin / Durduran, Yasemin / Pekcan, Sevgi

    Pediatric allergy, immunology, and pulmonology

    2022  Volume 35, Issue 1, Page(s) 19–26

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Administration, Inhalation ; Adolescent ; Child ; Cough/drug therapy ; Cystic Fibrosis/drug therapy ; Emollients/therapeutic use ; Humans ; Mannitol/adverse effects ; Powders/therapeutic use ; Retrospective Studies
    Chemical Substances Emollients ; Powders ; Mannitol (3OWL53L36A)
    Language English
    Publishing date 2022-03-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2566338-0
    ISSN 2151-3228 ; 2151-321X
    ISSN (online) 2151-3228
    ISSN 2151-321X
    DOI 10.1089/ped.2021.0127
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  5. Article ; Online: Caregiver burden and related factors in mothers of children and adolescents with cystic fibrosis.

    Akça, Ömer F / Uzun, Necati / Pekcan, Sevgi / Akkuş, Erkan / Güleç, Kemal

    Minerva pediatrics

    2021  Volume 75, Issue 1, Page(s) 144–146

    MeSH term(s) Female ; Humans ; Child ; Adolescent ; Mothers ; Caregiver Burden ; Cystic Fibrosis ; Parents ; Quality of Life
    Language English
    Publishing date 2021-04-15
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 3062664-X
    ISSN 2724-5780
    ISSN (online) 2724-5780
    DOI 10.23736/S2724-5276.21.06215-7
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  6. Article ; Online: Risk Factors and Clinical Determinants in Bronchiolitis of Infancy.

    Atay, Özge / Pekcan, Sevgi / Göktürk, Bahar / Özdemir, Mehmet

    Turkish thoracic journal

    2020  Volume 21, Issue 3, Page(s) 156–162

    Abstract: Objectives: The aims of this study was to demonstrate the viral pathogens, to evaluate the clinical prognosis, risk factors for recurrence, severity of acute viral bronchiolitis episodes among pediatric patients.: Materials and methods: Our study ... ...

    Abstract Objectives: The aims of this study was to demonstrate the viral pathogens, to evaluate the clinical prognosis, risk factors for recurrence, severity of acute viral bronchiolitis episodes among pediatric patients.
    Materials and methods: Our study included 101 children aged between 2 months and 2 years diagnosed with clinical bronchiolitis between September 2011 and April 2012. The demographics and clinical, laboratory, and radiological results of the patients were recorded. Nasopharyngeal swab samples were collected and analyzed through polymerase chain reaction (PCR) method. The patients were followed up for at least one year for new episodes, existence of wheezing, frequency of pulmonary infections, and progression of asthma.
    Results: In half of the patients, determinants were indicated through the PCR method, with the most frequent being respiratory syncytial virus (44%). The frequency of bronchiolitis was higher in prematures (p<0.005). There was a relationship between crowded family structure and the existence of wheezing (p=0.003), increased recurrence (p=0.014), and need for inhaler treatment (p=0.014). The frequency was higher in patients living in urban cities (p<0.001), in houses with heating stoves (p=0.001), and in houses with smokers (p=0.001). Patients living in houses with heating stoves had more severe episodes (p=0.018). Recurrent wheezing and the need for regular inhaler usage were positively correlated with high API scores (p=0.008 and p=0.002, respectively).
    Conclusion: Prematurity, exposure to smoking, living in a crowded house with heating stoves, and an urban life are the risk factors for frequent bronchiolitis. The API can be used to predict the recurrence of bronchiolitis.
    Keywords covid19
    Language English
    Publishing date 2020-06-25
    Publishing country Turkey
    Document type Journal Article
    ISSN 2149-2530
    ISSN (online) 2149-2530
    DOI 10.5152/TurkThoracJ.2019.180168
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  7. Article ; Online: Evaluation of nutritional status and related factors in children with cystic fibrosis.

    Yücel, Aylin / Pekcan, Sevgi / Eklioğlu, Beray Selver / Yüksekkaya, Hasan Ali / Ünal, Gökçen / Yılmaz, Aslı İmran

    The Turkish journal of pediatrics

    2022  Volume 64, Issue 2, Page(s) 274–284

    Abstract: Background: This study aimed to evaluate the nutritional status and body composition in children with cystic fibrosis (CF), in accordance with the new nutritional targets defined by European Society for Clinical Nutrition and Metabolism (ESPEN), the ... ...

    Abstract Background: This study aimed to evaluate the nutritional status and body composition in children with cystic fibrosis (CF), in accordance with the new nutritional targets defined by European Society for Clinical Nutrition and Metabolism (ESPEN), the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and the European Cystic Fibrosis Society (ECFS) 2016.
    Methods: In this cross-sectional study, data were collected prospectively in a single centre. A record was made for a total of 95 patients with CF of clinical data. Anthropometric data were evaluated using the World Health Organization growth standards. The bone mineral density (BMD) z-score was adjusted for height by measuring dual-energy X-ray absorptiometry (DXA). The speed of sound z-score values were measured with quantitative ultrasound (QUS).
    Results: The nutritional status was normal in 37.9% of patients aged < 2 years and 33.3% of patients aged 2-18 years. When the DXA BMD z-score values were corrected for height, it was determined that the BMD deficit was less. The calcaneus QUS SOS z-score mean value was lower than the mean height for age z-score adjusted BMD (BMDHAZ).
    Conclusions: The malnutrition rates of CF patients were higher than the rates previously reported in literature. As there are insufficient nutritional data in Turkey, there is a need for multi-centre studies to determine the frequency of malnutrition according to the new classifications. It is clear that QUS measurements cannot replace DXA in the diagnosis of osteopenic bone disease. However, when low values are determined with QUS as the first recommended measurement in the screening of bone status, it can be considered appropriate to confirm the status with DXA.
    MeSH term(s) Absorptiometry, Photon ; Bone Density ; Child ; Cross-Sectional Studies ; Cystic Fibrosis/complications ; Humans ; Malnutrition/epidemiology ; Nutritional Status ; Ultrasonography
    Language English
    Publishing date 2022-05-21
    Publishing country Turkey
    Document type Journal Article
    ZDB-ID 123487-0
    ISSN 2791-6421 ; 0041-4301
    ISSN (online) 2791-6421
    ISSN 0041-4301
    DOI 10.24953/turkjped.2021.415
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    Zs.B 988: Show issues Location:
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  8. Article ; Online: Successful treatment of postinfectious bronchiolitis obliterans with gamma globulin in a tertiary center: 10 years of experience.

    Yilmaz, Aslı İmran / Gül, Yahya / Kapaklı, Hasan / Ünal, Gökçen / Çağlar, Hanife Tuğçe / Ercan, Fatih / Reisli, İsmail / Keleş, Sevgi / Poyraz, Necdet / Pekcan, Sevgi

    Pediatric pulmonology

    2023  Volume 58, Issue 10, Page(s) 2769–2776

    Abstract: Introduction: Bronchiolitis obliterans is characterized by partial or total occlusion of the bronchioles due to inflammation and fibrosis, and the most common form is postinfectious bronchiolitis obliterans (PIBO). This study aimed to retrospectively ... ...

    Abstract Introduction: Bronchiolitis obliterans is characterized by partial or total occlusion of the bronchioles due to inflammation and fibrosis, and the most common form is postinfectious bronchiolitis obliterans (PIBO). This study aimed to retrospectively present our intravenous immunoglobulin (IVIG) treatment experience in PIBO patients with a clinically severe course despite receiving commonly used treatment protocols.
    Materials and methods: The study included patients aged 0-18 with subtle immunological abnormalities who were followed up in our center for PIBO between 2010 and 2021. Clinical evaluation, body mass index (BMI), computerized tomography (CT) image scoring, and immunological parameters were recorded before and after IVIG treatment.
    Results: Of the 11 patients included in the study, 90% were male, the mean age at diagnosis was 27.1 months (range: 5-68 months) and the mean current age was 81.4 months (range: 15-188 months). The number of hospital visits due to infection and the frequency of hospitalizations decreased markedly in the patients who underwent IVIG therapy. Oxygen therapy was discontinued in all patients, and improvements in radiological severity scores were observed. BMI z-scores improved over the baseline values after IVIG therapy.
    Conclusion: Corticosteroids are considered the best first-line treatment to control inflammation in PIBO. In our study group, PIBO patients showed favorable clinical and radiological responses to regular IVIG treatment, possibly due to minor immune deficiency secondary to steroids or as a result of undetected adaptive and innate immune defects involved in the etiology of severe PIBO.
    MeSH term(s) Humans ; Male ; Female ; Retrospective Studies ; gamma-Globulins/therapeutic use ; Immunoglobulins, Intravenous/therapeutic use ; Respiratory Function Tests ; Bronchiolitis Obliterans/diagnostic imaging ; Bronchiolitis Obliterans/drug therapy ; Bronchiolitis Obliterans/etiology ; Inflammation/complications
    Chemical Substances gamma-Globulins ; Immunoglobulins, Intravenous
    Language English
    Publishing date 2023-07-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26577
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  9. Article: Assessment of smoking in adolescents - a sample from vocational education centre.

    Pekcan, Sevgi / Durduran, Yasemin / Evci, Reyhan / Cihan, Fatma Gökşin / Ünal, Gökçen / İmran Yilmaz, Asli

    Central European journal of public health

    2022  Volume 30, Issue 1, Page(s) 37–45

    Abstract: Objective: The aim of this study was to analyse the knowledge and attitudes about smoking in young people between 16-20 years of age, who were both working and attending the Vocational Education Centre.: Methods: This study was conducted with high ... ...

    Abstract Objective: The aim of this study was to analyse the knowledge and attitudes about smoking in young people between 16-20 years of age, who were both working and attending the Vocational Education Centre.
    Methods: This study was conducted with high school students at the Vocational Education Centre. The socio-demographic questionnaire and the Fagerström Test of Nicotine Dependence (FTND) were applied to the students using a face-to-face interview technique. Secondly, interactive educations on smoking-free life and smoking-related diseases were given. At last, CO (carbon monoxide) levels and respiratory functions were evaluated.
    Results: Of the students 92.9% were males, 37.4% were 16 years, 35.8% were 17 years and 26.9% were 18-20 years old. Among 46.9% of smokers, 75.8% started smoking before 15 years of age, 86.1% were living with smokers. While 70.5% of smokers smoked more than 10 cigarettes daily, 61.3% smoked their first cigarette in the first half hour after waking up. Of the smokers, 28.8% were highly dependent, 13.0% were very highly dependent. CO levels were significantly higher in those who smoked in the workplace, who smoked mostly in the morning time, and those who started smoking at 7 years of age and younger (p < 0.05). FEV1, FVC, FEF25-75 values of morning smokers were significantly lower (p < 0.05).
    Conclusion: Unfortunately, the first smoking age was very low, the first cigarette of the day was lit in a short time after waking up, and family/friend's attitudes and behaviours were encouraging in this age group. More attention should be paid to this issue and especially new preventive projects should be implemented to protect young people from smoking.
    MeSH term(s) Adolescent ; Adult ; Aged, 80 and over ; Female ; Humans ; Male ; Smoking/epidemiology ; Smoking Cessation ; Tobacco Products ; Tobacco Use Disorder ; Vocational Education ; Young Adult
    Language English
    Publishing date 2022-04-11
    Publishing country Czech Republic
    Document type Journal Article
    ZDB-ID 1176053-9
    ISSN 1803-1048 ; 1210-7778 ; 0022-1732
    ISSN (online) 1803-1048
    ISSN 1210-7778 ; 0022-1732
    DOI 10.21101/cejph.a6965
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  10. Article ; Online: Neutrophil lymphocyte ratio, mean platelet volume, and immunoreactive trypsinogen as early inflammatory biomarkers for cystic fibrosis in infancy: A retrospective cohort study.

    Şişmanlar Eyuboglu, Tuğba / Aslan, Ayse Tana / Asfuroglu, Pelin / Kunt, Nursima / Ersoy, Ali / Kose, Mehmet / Unal, Gokcen / Pekcan, Sevgi

    Pediatric pulmonology

    2023  Volume 58, Issue 11, Page(s) 3106–3112

    Abstract: Background: Airway inflammation starts in early life in cystic fibrosis (CF) and limited, objective markers are available to help identify infants with increased inflammation. We aimed to investigate neutrophil, lymphocyte ratio (NLR), mean platelet ... ...

    Abstract Background: Airway inflammation starts in early life in cystic fibrosis (CF) and limited, objective markers are available to help identify infants with increased inflammation. We aimed to investigate neutrophil, lymphocyte ratio (NLR), mean platelet volume (MPV) and immunoreactive trypsinogen (IRT) to be a possible inflammatory biomarker for CF in infancy.
    Methods: This was a retrospective cohort study in three centers. Between January 2015 and December 2022, children with CF newborn screening (NBS) positivity and diagnosed as CF were included in the study. Correlation analysis were performed with NLR, MPV, IRT and follow-up parameters such as z-scores, modified Shwachman-Kulczycki score (mSKS) at the first, second, third and sixth ages and pulmonary function test (PFT) at the sixth age.
    Results: A total of 92 children with CF included in the study and 47.8% of them were female. There were no correlations between NLR, MPV and weight and height z-scores for all ages (p > 0.05), a negative correlation was found between MPV and body mass indexes (BMI) z-score at the age of 6 (r = -0.443, p = 0.038). No correlation was found between NLR, MPV and PFT parameters and mSKS at all ages (p > 0.05). There was a negative correlation between first IRT and BMI z-score at 6 years of age (r = -0.381, p = 0.046) and negative correlations between second IRT and weight and BMI z-score at the age of 6 (r = -0.462, p = 0.010; r = -0.437, p = 0.016, respectively).
    Conclusion: Higher MPV and IRT levels during NBS period are associated with worse nutritional outcome which may reflect chronic inflammation. Children with higher MPV and IRT should be followed up closely in terms of chronic inflammation and nutritional status.
    MeSH term(s) Infant, Newborn ; Child ; Infant ; Humans ; Female ; Male ; Cystic Fibrosis ; Trypsinogen ; Neonatal Screening ; Retrospective Studies ; Mean Platelet Volume ; Neutrophils ; Biomarkers ; Cystic Fibrosis Transmembrane Conductance Regulator ; Inflammation
    Chemical Substances Trypsinogen (9002-08-8) ; Biomarkers ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2023-08-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26628
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