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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

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

Çıkı, Kısmet / Türer, Özlem Boybeyi / Hızal, Mina / Tuğcu, Gökçen Dilşa / Emiralioğlu, Nagehan / Yalçın, Ebru / Ersöz, Deniz Doğru / Kiper, Nural / Özçelik, Uğur

The Turkish journal of pediatrics

2020 Volume 62, Issue 1, Page(s) 156–159

Abstract: 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 ... ...

Abstract	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.
MeSH term(s)	Abdominal Pain/diagnosis ; Abdominal Pain/etiology ; Humans ; Infant, Newborn ; Kartagener Syndrome/complications ; Kartagener Syndrome/diagnosis ; Otitis Media ; Sinusitis ; Situs Inversus/complications ; Situs Inversus/diagnosis
Language	English
Publishing date	2020-04-03
Publishing country	Turkey
Document type	Case Reports
ZDB-ID	123487-0
ISSN	0041-4301
ISSN	0041-4301
DOI	10.24953/turkjped.2020.01.024
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Article ; Online: Differentially expressed genes associated with disease severity in siblings with cystic fibrosis.

Ekinci, İlksen Berfin / Hızal, Mina / Emiralioğlu, Nagehan / Özçelik, Uğur / Yalçın, Ebru / Doğru, Deniz / Kiper, Nural / Dayangaç-Erden, Didem

Pediatric pulmonology

2020 Volume 56, Issue 5, Page(s) 910–920

Abstract: 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 ... ...

Abstract	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.
MeSH term(s)	Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Humans ; Mutation ; Phenotype ; Severity of Illness Index ; Siblings
Chemical Substances	Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	English
Publishing date	2020-12-31
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.25237
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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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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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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 ...

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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