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    Prognostic Factors in Unilateral Wilms Tumour; Two Centers Experience from Turkey
    (Wiley-Blackwell, 2016) Sahin, A.; Cetingul, N.; Demirag, B.; Vergin, C.; Avanoglu, A.; Malik, E.; Temir, Z. G.; Kamer, S.; Kantar, M.; Aksoylar, S.; Kansoy, S.; Sen, S.; Elmas, N.; Alper, H.; Anacak, Y.
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    PULMONARY COMPLICATIONS IN LONG-TERM SURVIVORS OF CHILDHOOD AND ADOLESCENT CANCER
    (Wiley-Blackwell, 2014) Cetingul, N.; Ergin, F.; Demir, E.; Kantar, M.; Alper, H.; Aksoylar, S.; Sayiner, A.; Kansoy, S.
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    Rarer Components of a Rare Disease: Accessory Hemidiaphragm and Horseshoe Lung with Scimitar Syndrome: Two Case Reports
    (Bentham Science Publishers, 2024) Koska, O.I.; Alper, H.
    Introduction: Scimitar syndrome is a rare developmental anomaly with an incidence of 2/100.000 births. Major components of this disease are partial anomalous pulmonary venous drainage, pulmonary hypoplasia, systemic arterialization of the right basal lung, and dextroposition of the heart. Horseshoe lung and accessory hemidiaphragm are two rarer components of this disease. Case Presentation: In this paper, horseshoe lung and accessory diaphragm associated with Scimitar syndrome have been reported in two cases. Conclusion: In conclusion, being aware of rare manifestations of rare diseases is important to fully describe the pathologic spectrum of the disease. This will assist in better management and decision-making process. © 2024 The Author(s).
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    Relevance between clinical status and exhaled molecules related to neutrophilic inflammation in pediatric cystic fibrosis
    (Iop Publishing Ltd, 2020) Kanik, E. Toprak; Yilmaz, O.; Ozdogru, E.; Alper, H.; Ulman, C.; Kanik, A.; Yuksel, H.
    Introduction:Cystic fibrosis (CF) is characterized with chronic inflammation with neutrophil and related cytokines in airway secretions. We aimed to measure the levels of neutrophil related inflammatory markers as nitric oxide, IL-8, IL-17, leukotriene B4 and neutrophil elastase as well as e-cadherin in exhaled breath condensate (EBC), and to determine their relation with clinical findings.Methods:We consecutively enrolled cystic fibrosis patients into our clinics between the age of six and eighteen years who could cooperate for exhaled breath condensate to this case-control study (n = 30). the age and sex matched control group (n = 26) was enrolled. Spirometry was performed during the stable period and EBC samples were obtained for measurement of the markers.Results:The mean age of the subjects enrolled was 12.1(4.2) years and 40% were positive forP.Aeruginosain sputum. Subjects who hadP.Aeruginosain sputum cultures had significantly lower FEV1, FVC and FEF 25/75 values compared to the ones withoutP.Aeruginosa(p = 0.002, p = 0.002 and p = 0.005 respectively). EBC neutrophil elastase levels were significantly higher in the CF patients compared to non-CF controls (3.11 4.71 versus 0.90 2.68, p = 0.04). Nitric oxide, IL-17, IL-8, e-cadherin, neutrophil elastase or leukotriene B4 levels in EBC of CF patients were not related toP.Aeruginosas infection, FEV1 levels or hospital admission in the last year.Conclusion:In our study, neutrophil elastase levels in EBC are higher in CF patients compared to non-CF controls. This is independent of acute infection and is evidence to the persistence of neutrophilic lung injury. However, EBC NO, IL-8, IL-17, e-cadherin, neutrophil elastase and leukotriene B4 levels as inflammatory markers, are not correlated with disease progression or clinical findings.
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    Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
    (Nature Publishing Group, 2016) Bademci, G.; Cengiz, F. B.; Foster, J., II; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Özkınay, Ferda; Yildirim-Baylan, M.; Blanton, S. H.; Tekin, M.
    The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.