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  1. Article ; Online: Comparison of lung ultrasonography and magnetic resonance imaging versus computed tomography in pulmonary alveolar microlithiasis.

    Hizal, Mina / Gunel, Ilkin E / Ozcan, Hatice N / Oguz, Berna / Emiralioglu, Nagehan / Yalcin, Ebru / Dogru, Deniz / Ozcelik, Ugur / Haliloglu, Mithat / Kiper, Nural

    Pediatric pulmonology

    2024  Volume 59, Issue 4, Page(s) 1120–1123

    MeSH term(s) Humans ; Lung Diseases/diagnostic imaging ; Lung/diagnostic imaging ; Ultrasonography ; Magnetic Resonance Imaging ; Tomography ; Pulmonary Alveoli/diagnostic imaging ; Pulmonary Alveoli/pathology ; Calcinosis ; Genetic Diseases, Inborn
    Language English
    Publishing date 2024-01-12
    Publishing country United States
    Document type Letter
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26862
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    Zs.A 2143: Show issues Location:
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  2. Article ; Online: The role of flexible bronchoscopy in the diagnostic pathway of children with unexplained peripheral eosinophilia.

    Hızal, Mina / Eryilmaz Polat, Sanem / Emiralioğlu, Nagehan / Cinel, Guzin / Yalcin, Ebru / Dogru, Deniz / Ozcelik, Ugur / Kiper, Nural

    Pediatrics international : official journal of the Japan Pediatric Society

    2022  Volume 65, Issue 1, Page(s) e15421

    Abstract: Background: Many possible underlying causes can be seen in children with unexplained peripheral eosinophilia (UPE) with suspected pulmonary involvement. Here, we aimed to demonstrate the clinical characteristics and diagnoses of children evaluated for ... ...

    Abstract Background: Many possible underlying causes can be seen in children with unexplained peripheral eosinophilia (UPE) with suspected pulmonary involvement. Here, we aimed to demonstrate the clinical characteristics and diagnoses of children evaluated for UPE who underwent diagnostic bronchoscopy.
    Methods: Thirty-one children who underwent diagnostic bronchoscopy for UPE between 2006-2018 were included. Demographic characteristics, bronchoscopy findings and final diagnosis, and treatments were evaluated.
    Results: The median age at the time of diagnosis was 5 (0.25-17.5) years. The final diagnoses of 26 patients were as follows: immunodeficiency (n = 6); hyper-IgE syndromes (n = 4), DOCK8 deficiency + HES (idiopathic hypereosinophilic syndrome; n = 1), and severe combined immunodeficiency (n = 1), HES (n = 3), idiopathic chronic eosinophilic pneumonia (ICEP; n = 3), idiopathic pulmonary hemosiderosis (n = 1), B cell lymphoma (n = 1). In one child, an integrin α3 mutation + cytomegalovirus (CMV) pneumonia was detected. Congenital pneumonia was found in one patient, and parasitic infection in another. In two, eosinophilia was attributed to underlying asthma and atopy. In four, the underlying reasons could not be elucidated. Two children with HES and one with ICEP were lost to follow-up. There was no significant relationship between the peripheral eosinophil count at the time of diagnosis and the percentage of bronchoalveolar lavage eosinophils (BAL). Bronchoscopy contributed to the management of 14 (53.9%) patients.
    Conclusions: Bronchoscopy has potential diagnostic contribution in patients with UPE suspected of having pulmonary involvement. Numerous various underlying causes may be present in this patient group. There is no relation between peripheral eosinophil count and BAL eosinophil percentage.
    MeSH term(s) Humans ; Child ; Child, Preschool ; Adolescent ; Bronchoscopy ; Pulmonary Eosinophilia/diagnosis ; Eosinophils ; Lung Diseases/diagnosis ; Pneumonia ; Bronchoalveolar Lavage Fluid ; Guanine Nucleotide Exchange Factors
    Chemical Substances DOCK8 protein, human ; Guanine Nucleotide Exchange Factors
    Language English
    Publishing date 2022-11-24
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 1470376-2
    ISSN 1442-200X ; 1328-8067
    ISSN (online) 1442-200X
    ISSN 1328-8067
    DOI 10.1111/ped.15421
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  3. Article: Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

    Hızal, Mina / Yeke, Batuhan / Yıldız, Yılmaz / Öztürk, Ali / Gürbüz, Berrak Bilginer / Coşkun, Turgay

    The Turkish journal of pediatrics

    2020  Volume 62, Issue 3, Page(s) 474–478

    Abstract: Background: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.! ...

    Abstract Background: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.
    Case: Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens-Johnson syndrome, which has been previously reported in only a few cases in the literature.
    Conclusion: Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.
    MeSH term(s) Agenesis of Corpus Callosum/diagnosis ; Agenesis of Corpus Callosum/genetics ; Albinism ; Autophagy-Related Proteins ; Cataract ; Humans ; Vesicular Transport Proteins
    Chemical Substances Autophagy-Related Proteins ; Vesicular Transport Proteins
    Language English
    Publishing date 2020-06-18
    Publishing country Turkey
    Document type Case Reports
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    DOI 10.24953/turkjped.2020.03.015
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  4. Article: Takayasu arteritis presenting with spontaneous pneumothorax.

    Hızal, Mina / Demir, Selcan / Polat, Sanem Eryılmaz / Özen, Seza / Kiper, Nural

    The Turkish journal of pediatrics

    2020  Volume 62, Issue 5, Page(s) 879–883

    Abstract: Background: Takayasu arteritis (TA) is an idiopathic chronic inflammatory arteritis that affects the large blood vessels. Pulmonary involvement was considered an uncommon manifestation of the disease and spontaneous pneumothorax has not been previously ... ...

    Abstract Background: Takayasu arteritis (TA) is an idiopathic chronic inflammatory arteritis that affects the large blood vessels. Pulmonary involvement was considered an uncommon manifestation of the disease and spontaneous pneumothorax has not been previously described in association with TA.
    Case: We report a 13-year-old female who had TA complicated by spontaneous pneumothorax during treatment. She was admitted to the hospital reporting difficulty standing from a squatting position and inability to walk without support. She had been diagnosed with dilate cardiomyopathy four years ago and cardiac functions had deteriorated over time. Catheter angiography revealed diffuse narrowing of the abdominal aorta. In magnetic resonance angiography, total-subtotal occlusion of the infrarenal abdominal aorta in a 2 cm area and subtotal occlusion of the left renal artery were detected without pulmonary artery involvement. Methotrexate, azathioprine, and prednisolone were administered. Tension pneumothorax developed on the left side while she was on prednisolone treatment.
    Conclusion: To our knowledge, this is the first case of spontaneous pneumothorax associated with TA to be reported in the literature.
    MeSH term(s) Adolescent ; Aorta, Abdominal ; Female ; Humans ; Magnetic Resonance Angiography ; Pneumothorax/diagnostic imaging ; Pneumothorax/etiology ; Prednisolone ; Takayasu Arteritis/complications ; Takayasu Arteritis/diagnosis
    Chemical Substances Prednisolone (9PHQ9Y1OLM)
    Language English
    Publishing date 2020-10-27
    Publishing country Turkey
    Document type Case Reports
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    DOI 10.24953/turkjped.2020.05.024
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  5. Article ; Online: Does aeroallergen sensitivity and allergic rhinitis in children cause milder COVID-19 infection?

    Vezir, Emine / Hizal, Mina / Cura Yayla, Burcu / Aykac, Kubra / Yilmaz, Arzu / Kaya, Gamze / Oygar, Pembe Derin / Ozsurekci, Yasemin / Ceyhan, Mehmet

    Allergy and asthma proceedings

    2021  Volume 42, Issue 6, Page(s) 522–529

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Adolescent ; Allergens/adverse effects ; Asthma/diagnosis ; Asthma/epidemiology ; Asthma/immunology ; COVID-19/complications ; COVID-19/diagnosis ; COVID-19/epidemiology ; Child ; Child, Preschool ; Dermatitis, Atopic/diagnosis ; Dermatitis, Atopic/epidemiology ; Dermatitis, Atopic/immunology ; Female ; Humans ; Hypersensitivity/diagnosis ; Hypersensitivity/epidemiology ; Hypersensitivity/immunology ; Immunoglobulin E/blood ; Male ; Respiratory Function Tests ; Rhinitis, Allergic/diagnosis ; Rhinitis, Allergic/epidemiology ; Rhinitis, Allergic/immunology ; SARS-CoV-2 ; Severity of Illness Index ; Skin Tests/statistics & numerical data ; Turkey/epidemiology
    Chemical Substances Allergens ; Immunoglobulin E (37341-29-0)
    Language English
    Publishing date 2021-12-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1312445-6
    ISSN 1539-6304 ; 1088-5412
    ISSN (online) 1539-6304
    ISSN 1088-5412
    DOI 10.2500/aap.2021.42.210087
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    Zs.A 1804: Show issues Location:
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  6. Article ; Online: Evaluation of pulmonary complications and affecting factors in children for repaired esophageal atresia and tracheoesophageal fistula.

    Tuğcu, Gökçen Dilşa / Soyer, Tutku / Polat, Sanem Eryılmaz / Hizal, Mina / Emiralioğlu, Nagehan / Yalçın, Ebru / Doğru, Deniz / Kiper, Nural / Özçelik, Uğur

    Respiratory medicine

    2021  Volume 181, Page(s) 106376

    Abstract: 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- ... ...

    Abstract 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.
    MeSH term(s) Adolescent ; Bronchomalacia ; Child ; Child, Preschool ; Deglutition Disorders ; Esophageal Atresia/surgery ; Esophageal Fistula/surgery ; Esophageal Motility Disorders ; Female ; Fistula/surgery ; Gastroesophageal Reflux ; Humans ; Infant ; Male ; Postoperative Complications/diagnosis ; Postoperative Complications/etiology ; Postoperative Complications/prevention & control ; Respiratory Sounds ; Retrospective Studies ; Tracheal Diseases/surgery ; Tracheomalacia
    Language English
    Publishing date 2021-03-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 1003348-8
    ISSN 1532-3064 ; 0954-6111
    ISSN (online) 1532-3064
    ISSN 0954-6111
    DOI 10.1016/j.rmed.2021.106376
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  7. Article: Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy.

    Durmuş, Gül / Boybeyi-Türer, Özlem / Gharibzadeh-Hizal, Mina / Ekinci, Saniye / Kiper, Nural

    The Turkish journal of pediatrics

    2019  Volume 60, Issue 5, Page(s) 612–614

    Abstract: Durmuş G, Boybeyi-Türer Ö, Gharibzadeh-Hizal M, Ekinci S, Kiper N. Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy. Turk J Pediatr 2018; 60: 612-614. Meconium periorchitis (MPO) is a rare disorder caused by ... ...

    Abstract Durmuş G, Boybeyi-Türer Ö, Gharibzadeh-Hizal M, Ekinci S, Kiper N. Meconium periorchitis: An incidentally diagnosed rare entity during inguinal herniorraphy. Turk J Pediatr 2018; 60: 612-614. Meconium periorchitis (MPO) is a rare disorder caused by meconium peritonitis with the leakage of meconium into the scrotal sac through the patent processus vaginalis. MPO may be rarely detected during inguinal hernia repair. The association of MPO with cystic fibrosis is rarely seen. We present a male infant with the complaint of left groin swelling, compatible with reducible inguinal hernia. An herniotomy was carried out and the greenish nodules with calcifications were detected. Histopathological examination was compatible with MPO. Two months later the patient was diagnosed with atypical cystic fibrosis. Clinicians should be aware of MPO presentations and its appearance on the hernia sac to prevent unnecessary orchiectomy.
    MeSH term(s) Cystic Fibrosis/complications ; Cystic Fibrosis/diagnosis ; Groin ; Hernia, Inguinal/complications ; Hernia, Inguinal/surgery ; Herniorrhaphy/methods ; Humans ; Incidental Findings ; Infant ; Infant, Newborn ; Male ; Meconium ; Orchitis/diagnosis ; Orchitis/etiology ; Scrotum
    Language English
    Publishing date 2019-04-09
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    DOI 10.24953/turkjped.2018.05.025
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  8. Article ; Online: The airway microbiota in siblings with primary ciliary dyskinesia: Related factors and correlation with clinical characteristics.

    Ademhan Tural, Dilber / Kasikci, Merve / Eryilmaz Polat, Sanem / Ozsezen, Beste / Hizal, Mina / Sunman, Birce / Nayir Büyüksahin, Halime / Guzelkas, Ismail / Altay, Ozlem / Dolgun, Tugba Yuksel / Emiralioglu, Nagehan / Yalcin, Ebru / Dogru, Deniz / Kiper, Nural / Hascelik, Gulsen / Diker, Kadir Serdar / Ozcelik, Ugur

    Pediatric pulmonology

    2023  Volume 59, Issue 3, Page(s) 695–706

    Abstract: Objectives-aim: We aimed to show the composition and structure of and explore affecting factors on airway microbiota in primary ciliary dyskinesia (PCD) patients using culture-independent techniques.: Method: A cross-sectional observational study was ...

    Abstract Objectives-aim: We aimed to show the composition and structure of and explore affecting factors on airway microbiota in primary ciliary dyskinesia (PCD) patients using culture-independent techniques.
    Method: A cross-sectional observational study was performed. We recruited 14 PCD patients (seven pairs of siblings) and nine parents. Bacterial rDNA was extracted from sputum and nasal samples. Sputum samples were also inoculated on suitable bacteriological media.
    Results: Thirty-three separate genera were detected in sputum samples of PCD patients, and 41 were in nasal samples of parents. The detected genera were dominated by phyla Proteobacteria in PCD patients and their parents. Culture-dependent analyses could not detect many of the bacterial species detected with culture-independent analyses. There were no significant differences in alpha diversity between the siblings' pairs, and siblings' samples did not cluster together nearly as strongly as nonsiblings' samples. Patients who had no new complaints and no bacterial growth with the culture-dependent method at the time of study and patients who had no Haemophilus influenzae growth in the previous year had a significantly greater diversity (p < .05). Microbiota communities tended to cluster together by age, pulmonary exacerbation status, the existence of at least one H. influenzae growth with culture-dependent analyses in the previous year, and forced expiratory volume in 1 sec z and FEF25-75 z-scores.
    Conclusion: The airway microbiota of patients with PCD have presented more diverse bacterial communities than had been indicated with culture-dependent methods. The study identifies relationships between bacterial airway microbiota composition and the clinical measures of patients. Sibling pairs have no more community similarities than nonsibling PCD patients. Our results may indicate that the patients' clinical characteristics, which determine the disease severity, might affect the PCD microbiome.
    MeSH term(s) Humans ; Siblings ; Cross-Sectional Studies ; Lung ; Microbiota/genetics ; Sputum/microbiology ; Bacteria/genetics ; Ciliary Motility Disorders
    Language English
    Publishing date 2023-12-13
    Publishing country United States
    Document type Observational Study ; Journal Article
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.26816
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  9. Article ; Online: Evaluation of ciliary functions and ciliary beat frequency via cell culture method in patients with primary ciliary dyskinesia.

    Emiralioğlu, Nagehan / Hekimoğlu, Rümeysa / Kaya, Bengisu / Bilgiç, Elif / Atilla, Pergin / Günaydın, Önder / Tuğcu, Gökçen Dilşa / Polat, Sanem Eryılmaz / Hızal, Mina Gharibzadeh / Yalçın, Ebru / Doğru, Deniz / Kiper, Nural / Özçelik, Uğur

    The Turkish journal of pediatrics

    2022  Volume 64, Issue 4, Page(s) 612–618

    Abstract: Background: Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed ... ...

    Abstract Background: Cell culture increases both diagnostic specificity and sensitivity of primary ciliary dyskinesia (PCD) and the most important reason to use cell culture for definitive diagnosis in PCD is to exclude secondary ciliary defects. Here we aimed to evaluate the cilia functions and cilia ultrastructural abnormalities after ciliogenesis of cell culture in patients with definitive diagnosis of PCD. We also aimed to compare high speed videomicroscopy (HSVM) results of patients before and after ciliogenesis and to compare them with electron microscopy, genetic and immunofluorescence results in patients with positive diagnosis of PCD.
    Methods: This study was conducted as a cross-sectional study in patients with PCD. HSVM, transmission electron microscopy (TEM) and immunofluorescence staining results of the nasal biopsy samples taken from patients with the definitive diagnosis of PCD were evaluated and HSVM findings before and after cell culture were described.
    Results: Ciliogenesis and regrowth in the cell culture occurred in the nasal biopsy sample of eight patients with PCD. The mean age of the patients was 15.5±4.2 years (8.5-18 years). Mean beat frequency was found to be 7.54±1.01 hz (6.53-9.45 hz) before cell culture, and 7.36±0.86 hz (6.02-7.99 hz) after cell culture in the nasal biopsy of patients. There was no significant difference in the beat frequency of PCD patients before and after cell culture. Ciliary function analysis showed the similar beating pattern before and after cell culture in patients with PCD.
    Conclusions: This study showed us that there was no difference between cilia beat frequency and beat pattern before and after cell culture in patients with definitive diagnosis of PCD and repeated HSVM would be a useful diagnostic approach in patients who have no possibility to reach other diagnostic methods.
    MeSH term(s) Adolescent ; Adult ; Cell Culture Techniques ; Child ; Cilia/pathology ; Cilia/physiology ; Cilia/ultrastructure ; Cross-Sectional Studies ; Humans ; Kartagener Syndrome/diagnosis ; Microscopy, Video ; Young Adult
    Language English
    Publishing date 2022-09-29
    Publishing country Turkey
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 123487-0
    ISSN 2791-6421 ; 0041-4301
    ISSN (online) 2791-6421
    ISSN 0041-4301
    DOI 10.24953/turkjped.2020.3361
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  10. Article ; Online: Obstructive sleep apnea in children with hypothalamic obesity: Evaluation of possible related factors.

    Iyigun, Irem / Alikasifoglu, Ayfer / Gonc, Nazlı / Ozon, Alev / Eryilmaz Polat, Sanem / Hizal, Mina / Kiper, Nural / Ozcelik, Ugur

    Pediatric pulmonology

    2020  Volume 55, Issue 12, Page(s) 3532–3540

    Abstract: Introduction: Hypothalamic obesity (HO) is a type of obesity that is caused by hypothalamic damage. HO can be complicated by obstructive sleep apnea syndrome (OSAS) due to anatomical narrowing of the upper airway and hypothalamic damage-induced ... ...

    Abstract Introduction: Hypothalamic obesity (HO) is a type of obesity that is caused by hypothalamic damage. HO can be complicated by obstructive sleep apnea syndrome (OSAS) due to anatomical narrowing of the upper airway and hypothalamic damage-induced dysfunction of the sleep control mechanisms. We aimed to explore the presence and severity of OSAS in children with HO and hypothesized that OSAS is more severe and frequent in HO than exogenous obesity (EO).
    Methods: This cross-sectional study was conducted among children aged 6.6-17.9 years. Subjects with HO (n = 14) and controls with EO (n = 19) were consecutively recruited through an endocrinology clinic. All patients underwent full-night polysomnography. The primary outcomes were obstructive apnea-hypopnea index (OAHI) and the severity of OSAS. We analyzed the polysomnography findings, biochemical parameters, Brodsky and modified Mallampati scores, and blood pressure compared with the controls. We explored the different obesity types and these variables in association with OAHI using multiple linear regression (MLR).
    Results: Age and body mass index z scores (BMI-z) were similar between the EO and HO groups. The OAHI of HO (5.8) was higher than that of EO (2.2). In MLR, the predicted OAHI was formulated as an equation using regression coefficients of obesity type (HO), age, and BMI-z (R
    Conclusions: Children with HO have a higher risk of moderate/severe OSAS than children with EO. Polysomnography should be considered in all patients with HO.
    MeSH term(s) Adolescent ; Body Mass Index ; Child ; Cross-Sectional Studies ; Female ; Humans ; Hypothalamic Diseases/diagnosis ; Male ; Obesity/complications ; Obesity/diagnosis ; Polysomnography/adverse effects ; Sleep ; Sleep Apnea, Obstructive/diagnosis ; Sleep Apnea, Obstructive/physiopathology
    Language English
    Publishing date 2020-10-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.25097
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    ab Jg. 2022: Lesesaal (EG)

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