{"title":"Sendromik Olmayan Konjenital Yarık Damak-Dudak Bulunan Hastalarda Kopya Sayısı Varyasyonlarının Belirlenmesi","authors":"Emine Ikbal Atli, Engin Atli, Sinem Yalçıntepe, Selma Demir, Yasemin Özten, Hakan Gurkan","doi":"10.20515/OTD.910654","DOIUrl":"https://doi.org/10.20515/OTD.910654","url":null,"abstract":"Dudak damak yarigi en sik gorulen kraniyofasiyal anomalidir. Olgularin %70 inde eslik eden anomali bulunmaz ve non sendromik dudak damak yarigi olarak adlandirilir. Genetik biliminde molekuler ve kantitatif olarak meydana gelen gelismeler bu patolojinin sendromik ve sendromik olmayan her iki tipinde de genetik mekanizmalarinin rol oynuyor olabilecegini dusundurmektedir. Sendromik olmayan yarik dudak/damak, embriyonik donemde gerceklesen yaygin bir gelisimsel anormalliktir. Bu calisma, yarik dudak/damak patogenezinde yer alan kopya sayisi degisimlerine bagli genetik anormallikleri tanimlamak amaci tasimaktadir. Genom capinda kopya sayisi varyasyonlarini saptama hedefli CytoScan 180K dizisi kullanilarak yaptigimiz calisma, 1-15 yaslari arasindaki 17 yarik damak dudak olan hasta ornegi ile gerceklestirilmistir. Yedi onemli kopya sayisi degisimi saptanmistir. Bu degisimler yarik damak dudak hastalarinda, duplikasyonlardan (9p23-p24, 18q12.1, Xp22.12, Xp22.31, Yq11.21/16q24.1) ve delesyonlardan (5q21.3 ve 6p22.3-23) olusuyordu. Genetik faktorlerin sendromik olmayan vakalarda da rol oynadigi calismamiz ile de gosterilmistir. Daha genis olcekli genom tarama calismalari farkli populasyonlarda da devam etmektedir. Ileriye yonelik hasta yonetiminde goz onunde tutulmasi gereken; aile ve akrabalarda yarik dudak ve damak bulunmasi halinde sonraki cocukta yarik damak dudak gorulme riskinin arttigidir. Anne babanin etkilenmedigi sporadik vakalarda dahi, bir sonraki cocukta oral yarik riskinin arttigi goz onunde tutulmali ve aile, sonraki gebelik icin mutlaka bilgilendirilmelidir.","PeriodicalId":409672,"journal":{"name":"Osmangazi Journal of Medicine","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127298378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evaluation of Cardiac Functions and Electrocardiogram Parameters in Children with Celiac Disease","authors":"D. Şahin, Yasin Şahin","doi":"10.20515/OTD.924868","DOIUrl":"https://doi.org/10.20515/OTD.924868","url":null,"abstract":"We aimed to evaluate cardiac functions and electrocardiogram (ECG) parameters that are determinant in the development of atrial and ventricular arrhythmia in children with celiac disease.Twenty-eight patients with celiac disease followed up between March 2017 and June 2020 were evaluated retrospectively. 33 age-and sex-matched healthy children were included as the control group. Echocardiography (ECHO) and 12-lead ECG were performed in all patients and controls. Of the 28 patients, 16 were girls (57.1%) and their mean age was 9.46±4.20 years. The mean duration time of celiac disease was 2.17±2.21 years. The Tp-e interval, QTc, QTc dispersion, and Tp-e / QT ratio were detected longer in celiac patients than in the control group (p <0.05). The patients were divided into 2 groups as seronegative (patients adhering to the gluten free-diet (GFD)) and seropositive celiac patients (patients not adhering to the GFD). There was no statistically significant difference between the two groups in terms of age and gender. The Tp-e interval, Tp-e / QT and Tp-e / QTc was determined longer in seropositive celiac patients. We found prolonged Tp-e interval, QTc, QTc dispersion and Tp-e / QT ratio in patients with celiac disease. In other words, we only detected the ventricular arrhythmia indicators as longer. In addition, we found prolonged Tp-e interval, Tp-e / QT and Tp-e / QTc in patients not adhering to a strict GFD. We detected that untreated celiac patients have a higher risk of ventricular arrhythmia. We think that further studies with more pediatric celiac patients who have longer duration of disease are needed for precise interpretation.","PeriodicalId":409672,"journal":{"name":"Osmangazi Journal of Medicine","volume":"30 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115264154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hastanede Yatan ve Geçici Üriner Kateterizasyon Uygulanan Hastalarda Kateterde Bakteriyel ve Fungal Kolonizasyonun Araştırılması","authors":"Salih Atakan Nemli, E. Kartal","doi":"10.20515/OTD.872372","DOIUrl":"https://doi.org/10.20515/OTD.872372","url":null,"abstract":"","PeriodicalId":409672,"journal":{"name":"Osmangazi Journal of Medicine","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132628578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trigeminal Sinir Dermatomu Yerleşimli Pediatrik Herpes Zoster","authors":"Ayben Leblebici, Seher Tekeli, Merve Işeri Nepesov, Meltem Dinleyici, Ömer Kiliç, Ener Çağrı Dinleyici","doi":"10.20515/OTD.754007","DOIUrl":"https://doi.org/10.20515/OTD.754007","url":null,"abstract":"Ayni zamanda zona olarak da bilinen herpes zoster, dorsal kok ganglionlarinda latent kalan varisella zoster virusunun reaktivasyonundan kaynaklanmaktadir. Herpes zoster birincil sucicegi enfeksiyonundan sonra herhangi bir zamanda gelisebilir. Sucicegi asisi canli atenue bir asi oldugu icin asiya bagli herpes zoster de gorulebilir. Aktive olmus virus kutanoz sinir boyunca yayilarak sinire ait dermatoma uyan ciltte vezikuler dokuntu ve agriya neden olur. Zonada en sik tutulum torasik dermatomda olup, trigeminal sinir ise en sik tutulan kranyal sinirdir. Burada trigeminal sinir tutulumu ile basvuran pediatrik zona olgusu sunulmustur.","PeriodicalId":409672,"journal":{"name":"Osmangazi Journal of Medicine","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114109934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"COVID-19 Pandemisinde Kullanılan İlaçlar, Etki Mekanizmaları ve Etkililikleri","authors":"Cansu Kiliç, Ş. Aydın, F. Kiliç","doi":"10.20515/otd.834991","DOIUrl":"https://doi.org/10.20515/otd.834991","url":null,"abstract":"Aralik 2019’ da Cin’ in Wuhan kentinde ortaya cikan koronavirus ailesinden olan COVID-19 tum dunyada pandemiye yol acmistir. Bu virusun daha once SARS-CoV ve MERS-CoV olarak salgin yapmis koronavirusler ile genetik yakinligi vardir. COVID-19 hastalari, ciddi akut respiratuvar sendrom (ARDS), agir pnomoni tablosu, hematolojik bulgular, dissemine intravaskuler koagulopati (DIC) ve sepsis gibi agir tablolarin yanisira koku kaybi, bulanti, kusma, ishal gibi gastrointestinal sistem bulgulari ya da sadece cilt dokuntuleri ile de hastanelere basvurabilmektedirler. Akut donemde makrofaj aktivasyon sendromu (MAS) ve sitokin firtinasi sebebiyle agir inflamasyon tablosuna sebep olmaktadir. Tedavide, SARS-CoV ve MERS-CoV ile olusan hastalik durumlarinda kullanilan ilaclar denenmektedir. Proflaksi ve tedavide klorokin, hidroksiklorokin kullanilirken agir pnomoni durumlarinda, ilave olarak azitromisin tedaviye eklenir. Hastaligin seyrine gore favipiravir, lopinavir, ritonavir, remdesivir, ribavirin gibi tedavide kullanilan/ denenen ilaclara yardimci ilaclar olarak antisitokin-immunomodulatorler (tosilizumab, anakinra, sarilumab, bevasizumab, ekulizumab), kortikosteroidler, immunoglobilinler, interferonlar ve antiagregan-antiinflamatuvar (dipiridamol) ilaclar kullanilir. Bu hastaligin seyri sirasinda olusabilecek koagulasyonu onlemek amaciyla profilaktik olarak dusuk molekul agirlikli heparin (enoksaparin) kullanilabilir. COVID-19 semptomlari mevsimsel ve semptomatik nedenlerle influenza ile karisabilir. Influenza olmasi durumunda tedavide oseltamivir kullanilir. Normal sartlarda herhangi bir tedavisi olmayan COVID-19 icin asi ve ilac calismalari hiz kazanmistir. Ancak bu surecin en az bir yil kadar surebilecegini soylemekte yarar vardir. Hatta bu hastalikla mucadelede kok hucre calismalari da yapilmaktadir.","PeriodicalId":409672,"journal":{"name":"Osmangazi Journal of Medicine","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127228994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}