Şeyma Ünüvar

A Rare Seen Hemorrhage Disorder: Factor XI Deficiency Hemophilia C

75 Meandros Med Dent J 2018;19:75-8 Öz Faktör XI eksikliği kadınları ve erkekleri etkileyen otozomal resesif geçişli aynı zamanda otozomal dominant geçiş de gösterebilen bir kanama bozukluğudur. Yahudi olmayan genel popülasyonda Faktör XI eksikliği yaygın değildir ve yaklaşık görülme sıklığı 1/1 milyondur. Klinik fenotipi heterojendir ve kanama riski bireyin hemostatik değişikliklere verdiği cevaba göre değişmektedir. Faktör XI’in plazma düzeyi ile kanama eğilimi arasında zayıf bir ilişki vardır. Faktör XI eksikliğinde hasta hemofili A ve B’ye benzemeyen şekilde yaygın olmamakla birlikte spontan kanama ve cerrahi ya da travmayı takip eden kanamalar için risk altındadır. Hemartroz ve kas içi kanama hemofili A ve B’de yaygındır ancak Faktör XI eksikliği olanlarda tipik olarak görülmez. Yaygın görülen semptomlar kolay morarma ve burun kanamasıdır. Sıklıkla öyküde kanamanın zor durduğuna yönelik bulgular görülmektedir. Bu olguda mandibula üzerinde kitle nedeni ile operasyon öncesi incelemelerinde aktive parsiyel tromboplastin zamanı uzunluğu tespit edilerek nadir görülen bir kanama bozukluğu nedeni olan Faktör XI eksikliği hemofili C tanısı alan olgunun kanama diyatezi açısından yönetimi sunulmuştur. Factor XI deficiency is a hemorrhage disorder which can be either autosomal recessive or/and autosomal codominant and effects both women and men. Factor XI deficiency is uncommon in non-Jewish general population and average frequency of disorder is 1/1 million. Clinical phenotype is nonhomogeneous and bleeding risk depends on individual’s reaction against hemostatic variances. There is a poor relation between the Factor XI plasma level and bleeding tendency. In case of Factor XI deficiency, uncommon, unlike hemophilia A and B, spontaneous hemorrhage, surgical or trauma sequent are at risk. Hemarthrosis and intramuscular bleeding are common in hemophilia A and B but not typically seen in Factor XI deficiency disorders. Common symptoms are easy bruising and nosebleed. History of the disorder mostly indicates the findings about the difficulty in staunching. In this case, after detecting the activated partial thromboplastin time length before the operation due to build upon mandibula, management of patients, having Factor XI deficiency hemophilia C which is a cause of rare seen hemorrhage disorder, are presented in terms of bleeding

Prevalence of Proteinuria in School-Aged Turkish Children, and Its Association with Obesity and Hypertension

The Journal of Pediatric Research, published by Galenos Yayınevi. Ad dress for Cor res pon den ce/Ya z›fl ma Ad re si Ali Gül MD, Gaziosmanpaşa University Faculty of Medicine, Department of Pediatrics, Tokat, Turkey Phone: +90 505 347 29 61 E-mail: draligul@yahoo.com ORCID ID: orcid.org/0000-0001-5350-2192 Re cei ved/Ge liş ta ri hi: 10.07.2017 Ac cep ted/Ka bul ta ri hi: 05.09.2017 Okul Çağı Türk Çocuklarında Proteinüri Sıklığı ve Obezite ve Hipertansiyonla İlişkisi

Is the IL-6 -174G/C Gene Polymorphism Related to the Disease Severity Score in Turkish Children with Familial Mediterranean Fever?

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease characterized by recurrent self-limited attacks of fever accompanied by aseptic inflammation of serosal spaces, joints and skin, peritonitis, pleuritis, and arthritis. Clinical features differ according to genetics variants. The aim of this study was to identify relationship between IL-6 -174G/C gene polymorphisms and clinical features, disease severity score (DSS) and proteinuria in children diagnosed with FMF. In this study, 99 children who were followed-up in Gaziosmanpasa University Medical Faculty Department of Pediatrics and diagnosed with Familial Mediterranean fever according to Tel-Hashomer criteria were included. One hundred and fifty seven children who admitted to the hospital with any complain and found healthy included in control group. Genotyping was done for polymorphism in a promoter region of IL-6 gene (G/C at -174). The IL-6 -174G/C gene polymorphism and the clinical features of FMF, proteinuria, the DSS, and the healthy control group were investigated. Data for the clinical features were obtained retrospectively from the electronic records of patients. All of the genotyping of blood samples were done in Medical Genetic laboratory of Gaziosmanpasa University School of Medicine. The results revealed that the distribution of the genotypes and allele frequencies of the IL-6 -174G/C polymorphism were not significantly different between the FMF patients and the healthy controls. The IL-6 -174G/C polymorphisms did not affect proteinuria, the DSS, and the clinical features of FMF patients.

Premature Retinopatisi Taraması Yapılan Elli Dokuz Bebeğin Retrospektif Değerlendirilmesi

Purpose: We aimed to evaluate the possible risk factors for the development of retinopathy of prematurity(ROP) Patients and Methods: A retrospective study was conducted between January 2012- and May 2013 for premature infants aged 34 weeks or younger who were screened for premature retinopathy. Fifty nine infants were included into the study. Birth weight, gestational age and other risk factors were evaluated.. Results: Birth weights were between 750 and 3590g (mean 1960g) gestational ages between 24 and 34weeks (mean 31.9w). ROP with various stages was observed in 7 (%11.8) patients. Birth weight and gestational age were found to be inversely related to the presence of ROP. Continuous positive airway pressure, blood transfusions were directly related to the development of ROP . Conclusion: Increased survival rate of low gestational age and low birth weights infants with better standards in neonatal intensive care units, the incidence of ROP. Efficient screening and treatment must be used to prevent the permanent visual loss associated with ROP