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Öğe A Negative Correlation Between MEFV Mutations and Allergic Diseases(Galenos Yayincilik, 2022) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Duksal, FatmaAim: Atopy is associated with a genetic predisposition to develop allergic diseases such as allergic rhinitis, asthma, and atopic dermatitis. In this study, we aimed to compare the prevalence of Familial Mediterranean Fever (FMF) mutations in asthma and allergic rhinitis patients with controls in the pediatric population and to analyse the positive or negative effect of MEFV mutations in the development of atopy. Materials and Methods: For the detection of FMF mutations, 88 pediatric patients (51 allergic asthma, 17 allergic rhinitis and 20 both asthma and allergic rhinitis cases) and 92 controls were included in our study. Total genomic DNA was extracted from peripheral blood samples using DNA isolation kit. Then, the patient and control groups were screened for MEFV gene mutations by Reverse Hybridization procedure (Strip Assay). Results: There were 9 carriers (heterozygous mutation) in the patient group. The control group had 21 carriers and 1 individual with a compound heterozygous mutation. It was not detected any homozygous mutation in both two groups. The number of individuals with mutation was statistically higher in the control group than in the patients of asthma and allergic rhinitis (p=0.015) and the mutation number (allelic frequency) in the control group was also higher than in the patients (p=0.014). Conclusion: We suggest that FMF mutations are less frequent in allergic rhinitis and asthma cases than in the normal population. Asthma and allergic rhinitis may be more common in individuals without FMF mutation. It can be thought that MEFV gene mutations are effective to prevent allergic reactions on the basis of T helper 2 (Th2) suppression.Öğe Akondrogenezis Tip 2 (Langer-Saldino)(T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi, 2013) Kaya, Ali; Güven, Ahmet Sami; Demir, Mevlüt; Güneş, Hatice; Duksal, Fatma; Aygüneş, Utku; Gültekin, AsımAkondrogenezis; ileri derecede kısa ekstremiteler, vertebra korpuslarında kemikleşme defekti, fıçı tarzında toraks, kısa gövde, şişkin abdomen ve büyümüş kafa ile karakterize, otozomal resesif geçişli, nadir görülen bir osteokondroplazidir. İskelet displazili pek çok olgu gebeliğin 16-24. haftalarında anormal ultrasonografik bulgularla tanınabilmektedir. Bu yazıda doğum sonrası klinik ve radyolojik olarak akondrogenezis tip 2 tanısı konulan bir olgu sunulmaktadır. Annenin iki abortus öyküsü olmasına rağmen, gebelik takipleri düzenli yapılmadığı için prenatal tanı konulamamıştır. İskelet deformiteleri ile seyreden akondrogenezis, otozomal dominant ve resesif olarak kalıtılmaları nedeniyle sonraki gebeliklerde genetik danışmanlık verilebilmesi için prenatal tanı önemlidir.Öğe Astımlı çocuk hastalarda MDR-1 C>T gen polimorfizminin sıklığının belirlenmesi(Cumhuriyet Üniversitesi, 2013) Duksal, Fatma; Cevit, ÖmerAstım hava yollarının kronik inflamatuar bir hastalığıdır. Bazı genetik faktörlerin, örneğin, "multidrug resistance gene" (MDR) akciğerleri oksidatif hasardan koruduğu düşünülmektedir. Çalışmamızda çocukluk astımı ile inflamatuar olaylarda rol alan C3435T MDR-1 gen polimorfizmi arasındaki ilişkiyi incelemeyi amaçladık. Çalışma ve kontrol grupları sırasıyla 58 hasta (31 erkek/27 kız) ve 54 katılımcıdan (23 erkek/31kız) oluşmaktadır. Çalışma ve kontrol grubunun ortalama yaşları sırasıyla 9,87±3,08 ve 10,01±2,75 idi. Yaş ve cinsiyet açısından gruplar arasında anlamlı fark yoktu. Normal, heterozigot ve homozigot polimorfizm hastaların sırasıyla 12 (%20,7), 31 (%53,4)ve 15 (%25,9)'unda kontrol grubunun 18 (%33,3), 28 (%51,9) ve 8 (%14,8)'inde saptanmıştır. Astım ve kontrol grubu arasında MDR-1 polimorfizmi açısından anlamlı fark yoktu. Astmatik grup hafif persistan, orta persistan ve ağır astım olarak sınıflandırıldı. Hafif persistan grupta, normal, heterozigot ve homozigot polimorfizm sırasıyla 8 (%33,3), 14 (%58,3) ve 2 (%8,3)'sinde, orta persistan grupta, normal, heterozigot ve homozigot polimorfizm sırasıyla 3 (%17,6), 12 (%70,6) ve 2 (%11,8)'sinde, ağır grupta, normal, heterozigot ve homozigot polimorfizm sırasıyla 1 (%5,9), 5 (%29,7) ve 11 (%64,7)'sinde saptanmıştır. Homozigor mutasyon ağır astım grubunda hafif ve orta persistan gruba göre anlamlı olarak yüksek saptanmıştır. Ayrıca homozigot mutasyon kız hastalarda erkek hastalara gore daha fazla saptanmıştır. Sonuç olarak bu farklılığın ağır astımlı hastalardan kaynaklandığı yorumuna ulaştık. Bu bulgular sonucunda hastalar astım tanısı aldıklarında MDR-1 gen sonucuna göre ileride özellikle ağır astım olabilecekleri riskli grup şeklinde sınıflandırabiliriz. Böylece özellikle ağır astımlı hastaların tedavisi erkenden başlanabilir ve uzun dönemli yakın takibi yapılabilir. Böylece hastayı astımın kronik komplikasyonlarından koruyabiliriz. Ayrıca hastanın atakların sayısını azaltabilir ve ataklarının daha hafif geçmesini sağlayabiliriz.Öğe Evaluation of Platelet Activity Markers in Prognostic Value of Children with Crimean-Congo Hemorrhagic Fever(Georg Thieme Verlag Kg, 2020) Guven, Ahmet Sami; Duksal, Fatma; Akcan, Ozge Metin; Aygunes, Utku; Oflaz, Mehmet BurhanObjective The aim of this study is to investigate the prognostic value of platelet (PLT) activity markers in children with Crimean-Congo hemorrhagic fever (CCHF) and compare results with healthy controls. Materials and Methods A total of 135 patients with CCHF and 100 healthy children were included in this retrospective study. Mean age was 12.4 +/- 3.3 years in CCHF group, and 92 patients were male. We measured PLT count, mean platelet volume (MPV), platelet distribution width (PDW), and mean platelet mass (MPM) as PLT activity markers. Results A statistically significant decrease in MPM and PLT, and significantly higher levels of PDW and activated partial thromboplastin time (aPTT) and no significant difference in MPV were observed in patients with CCHF compared with controls. Although there were no significant differences between the severe and nonsevere CCHF groups in term of MPV and PDW, the MPM value was significantly decreased in severe patients ( p < 0.001). Furthermore, MPM values were inversely correlated with aPTT ( r = -0.617, p = 0.015), and positively correlated with PLT ( r = 0.703, p < 0.001) which are considered likely to be indicators of disease severity. Multivariate logistic regression analysis revealed MPM as an independent risk factor for severe disease. Conclusion Our study demonstrated that MPM values were decreased in severe cases compared with nonsevere in children with CCHF. The MPM as an indicator of PLT activation at the time of diagnosis in children with CCHF can be used as a prognostic index for disease severity.Öğe Evaluation of the Mean Platelet Volume and Platelet Distribution width in Children with Familial Mediterranean Fever(Bursa Uludag Univ, 2020) Duksal, Fatma; Guven, Ahmet Sami; Arslan, Mesut; Dogan, Melih Timucin; Aygunes, UtkuINTRODUCTION: Platelet activation plays a key part in the process of atherosclerosis. The risk of atherosclerosis increased in familial Mediterranean fever (FMF). Mean platelet volume (MPV), platelet distribution width (PDW) and platelet counts are important in platelet activation. The aim of present study was to evaluate the relationship between the MPV, PDW, PLT counts and mutation types of FMF in children in attack free period. MATERIALS and METHODS: PLT counts, MPV, PDW, age, sex and mutation types of patients were recorded retrospectively from medical records of patients. Three hundred sixty-eight children with FMF in attack-free period and 379 healthy children were included in the study. RESULTS: MPV of the patients were lower than those of control (p<0.001). However PDW counts of the patients were higher than those of control groups (p<0.001). The PLT counts were not different between patients and control subjects (p>0.05). Of 368 patients, homozygous, heterozygous, and compound mutations were seen, respectively, in 51, 267, and 51 patients. The MPV of patients with homozygous (p=0.029) and heterozygous(p=0.041) mutations were found higher than that of patients with compound mutations. There was no difference between heterozygous and homozygous mutation in terms of MPV (p>0.05). In addition, there was no difference between heterozygous, homozygous and compound mutations in terms of PDW and PLT counts (p>0.05). The most common mutations were M694V (n=131), E148Q (n=82), M6801, (n=37), and V726A (n=32). There wasn't seen significant difference among these mutations in terms of MPV, PDW and PLT counts (p > 0.05). CONCLUSIONS: Although, atherosclerosis risk is increased in high MPV levels, we couldn't find this relationship in current study. It may be due to all the patients were under colchicine treatment. On the other hand PDW levels were found higher in patients than control group. To verify this relationship between PDW and MPV values, further investigations are needed.Öğe Noninvasive evaluation of cardiac autonomic modulation in children with primary Raynaud's phenomenon: a controlled study(SPRINGER LONDON LTD, 2014) Oflaz, Mehmet Burhan; Ece, Ibrahim; Kibar, Ayse Esin; Balli, Sevket; Alaygut, Demet; Guven, Ahmet Sami; Bolat, Fatih; Duksal, Fatma; Cevit, OmerThis study aimed to objectively evaluate autonomic nervous function in children with primary Raynaud's phenomenon (PRP). Thirty-two children with PRP and 30 healthy subjects were included in the study. We analyzed heart rate variability (HRV) in the time domain by the following six standard time-domain measures: standard deviation of all normal R-R intervals during 24 h (SDNN), standard deviation of all normal R-R intervals for all 5-min segments (SDNNi), standard deviation of the average normal R-R intervals for all 5-min segments (SDANN), root mean square of the successive normal R-R interval difference, percentage of successive normal R-R intervals longer than 50 ms, and triangular index (integral of the density distribution of NN intervals divided by the maximum of the density distribution). The mean heart rate throughout 24 h was significantly higher in the PRP group than in the control group (p = 0.001). Although heart rate during the activity period was not significantly different from that during the night period, it was higher in the PRP group than in the control group (p = 0.002). In children with PRP, HRV analysis showed significantly lower values of SDNN (p = 0.01), SDNNi (p = 0.005), SDANN (p = 0.02), and HRV triangular index (p = 0.02) compared with the control group. HRV analysis for sympathovagal balance demonstrated a preponderance for the sympathetic component in patients with PRP. We conclude that all time-domain parameters evaluated in HRV analysis are significantly lower in children with PRP than in healthy subjects.Öğe The Prevalence of Asthma Diagnosis and Symptoms is Still Increasing in Early Adolescents in Turkey(JAPANESE SOCIETY ALLERGOLOGY, 2014) Duksal, Fatma; Becerir, Tulay; Ergin, Ahmet; Akcay, Ahmet; Guler, NerminBackground: This study was performed to evaluate the time trends in prevalence of asthma and related factors in Denizli, Turkey. Methods: Two cross-sectional surveys were performed, 6 years apart (2002 and 2008) using the ISAAC protocol, in the 13-14 age groups and comparisons were made between the results. Results: Lifetime prevalence of wheeze, 12 month prevalence of wheeze, and the prevalence of wheeze after exercise in the previous 12 months were significantly increased respectively from 10.2% to 13.4% (POR = 1.37, 95%CI = 1.18-1.58, p < 0.001), from 5.0% to 6.2% (POR = 1.26, 95 %CI = 1.02-1.55, p = 0.016) and from 9% to 10.2% (POR = 1.15, 95%CI = 0.98-1.35, p = 0.046) in 2008 study. Doctor diagnosed asthma prevalence also increased significantly from 2.1% to 12.9 (POR = 6.80, 95%CI = 5.22-8.85, p < 0.001). Prevalence of sleep disturbed by wheeze in the last 12 months; but, never woken with wheezing (POR = 1.62, 95 %CI = 1.26-2.09, p = < 0.001) and less than one night per week (POR = 1.58, 95%CI = 1.06-2.36, p = 0.013) were significantly increased in 2008 study. Severe attacks of wheeze limiting speech in the last year was increased from 1.3% to 2.2% (POR = 1.67, 95 %CI = 1.14-2.43, p = 0.004). The number of wheeze attacks in the previous 12 months was increased significantly for 4-to-12 attacks (POR = 1.54, 95%CI = 1.03-2.32, p = 0.02) in 2008 study. However, prevalence of waking with cough in the last 12 months did not change. While history of family atopy and domestic animal at home were found as significant risk factors for asthma in 2002 study, male gender, history of family atopy and stuffed toys were found significant in 2008. Conclusions: The prevalence of asthma symptoms were increased in Denizli. History of family atopy, male gender and stuffed toys were important risk factors for asthma in 2008.Öğe Relationship Between Childhood Asthma and C3435T Multidrug Resistance 1 Gene(DERMAN MEDICAL PUBL, 2015) Duksal, Fatma; Kurtulgan, Hande Kucuk; Cevit, Omer; Koksah, BinnurAim: It was aimed to show the relationship between childhood asthma and C3435T multidrug resistance 1 gene polymorphism. Material and Method: Fifty eight children with asthma and 54 healthy children participated to the study. Chi-square and Fisher exact tests were used for statistical analysis. Results: Wild, heterozygous and homozygous polymorphism for multidrug resistance - 1 gene were found respectively in 12 (20.7%), 31 (53.4%), and 15 (25.9%) of children with asthma. In healthy children, wild, heterozygous, and homozygous polymorphisms were found respectively in 18 (33.3%), 28 (51.9%), and 8 (14.8%) participants. There was no statistical difference between asthmatic and healthy children in terms of multidrug resistance 1 gene polymorphism. Homozygous polymorphism was found higher in severe persistent group than moderate and mild persistent groups (p=0.001) and in girls than boys (p=0.001). Discussion: It may be said that the difference was resulted from severe persistent asthmatic patients. And this information helps clinicians to rank the patients in terms of asthma by looking multidrug resistance 1 gene when the patient was diagnosed as asthma. Hence, treatment of patients, especially with crucial degree may begin earlier and its long-term pursuance can be made. In addition, gender-specific treatment can be planned especially for female patients.Öğe Rising trend of allergic rhinitis prevalence among Turkish schoolchildren(ELSEVIER IRELAND LTD, 2013) Duksal, Fatma; Akcay, Ahmet; Becerir, Tulay; Ergin, Ahmet; Becerir, Cem; Guler, NerminObjectives: To assess the time trends and possible risk factors associated with allergic rhinitis symptoms in schoolchildren from Denizli, Turkey. Method: Two identical cross-sectional surveys were performed in the 13- to 14-yr age group at intervals of six years using ISAAC questionnaire. Possible risk factors were also asked and the children completed questionnaires by self. Results: A total of 4078 children (response rate 75%) in the 2008 and 3004 children (response rate, 93.8%) in 2002 were included. The lifetime prevalence of rhinitis, 12-month prevalence of rhinitis, prevalence of associated itchy eye in the previous 12 months and doctor diagnosed allergic rhinitis prevalence were increased from 34.2% to 49.4% (POR = 1.87, 95% CI = 47.8-50.9 and p <= 0.001), from 23.5.0% to 32.9% (POR = 1.59, 95% CI = 31.4-34.3 and p <= 0.001), from 9.6% to 14.9% (POR = 1.64,95% CI = 13.8-16.0 and p <= 0.001), and from 4.3% to 7% (POR = 1.67, 95% CI = 6.2-7.8 and p <= 0.001) respectively. Severe interference with daily activity in the previous 12 months did not change. In multivariate analysis, history of family atopy, stuffed toys, high annual family income, presence of allergy in mother, father and accompaniment of children to their parents after school hours in textile industry were found as risk factors in 2008 study. Conclusion: The prevalence of allergic rhinitis increased significantly in 2008. Family history of atopy, stuffed toys, high annual family income and accompaniment of children to their parents in textile industry were found as risk factors for doctor diagnosed allergic rhinitis. (C) 2013 Elsevier Ireland Ltd. All rights reserved.Öğe Sivas, Cumhuriyet Üniversitesi’ne Başvuran Kırım-Kongo Kanamalı Ateş’li Çocukların Klinik ve Rutin Laboratuvar Testleri Yanında İmmünolojik Açıdan Değerlendirilmesi(Bursa Uludağ Üniversitesi, 2015) Demir, Mevlüt; Duksal, Fatma; Doğan, Melih Timuçin; Aygüneş, Utku; Kaya, Ali; Güven, Ahmet Sami; Cevit, ÖmerGiriş: Çalışmamızda, Kırım-Kongo Kanamalı Ateşi KKKA tanısıyla izlenen çocuk hastaların klinik ve rutin laboratuvar bulgularıyla birlikte, serum immünglobulin ve kompleman düzeylerinin değerlendirilmesi amaçlandı.Gereç ve Yöntem: Sivas, Cumhuriyet Üniversitesi’nde 2011-2012 tarihleri arasında, Enzyme-Linked Immunosorbent Assay ELISA veya polimeraz zincir reaksiyonu PCR kanıtlı KKKA tanısı alan 72 hastanın tıbbi kayıtları geriye dönük incelenmiştir. Epidemiyolojik, klinik özellikleri ve laboratuvar verileri hakkındaki bilgiler kaydedilmiştir.Bulgular: Çalışmaya alınan yetmiş iki çocuk hasta ortalama yaş; 11,95±3,95 yıl Tokat, Sivas, Yozgat, Giresun ve Erzincan’dan geliyordu. Başvuru esnasında başlıca ateş %94,4 , kusma %54,2 , halsizlik %52,8 , iştahsızlık %50 , baş ağrısı %47,2 , üst solunum yolu enfeksiyonu bulguları %41,7 , daha nadir olarak peteşi-purpura-ekimoz, epistaksis, ishal, melena, makülopapüler döküntü, hematemez, hematüri, hepatomegali, splenomegali, lenfadenopati bulguları vardı. Başvuruda hastaların laboratuvar bulguları şu şekildedir: %80,6 trombositopeni, %70,8 lökopeni, %50 nötropeni, %73,6 yüksek aspartate transaminaz, %26,4 yüksek alanine transaminaz, %71,6 yüksek laktat dehidrogenaz, %68,1 yüksek keratin kinaz, %54,2 uzamış protrombin zamanı, %52,8 uzamış parsiyel tromboplastin zamanı saptanmıştır. Ayrıca düşük IgG, düşük IgA, düşük C3 ve düşük C4 sırasıyla 4, 3, 12 ve 1 hastada saptanmıştır. Tüm hastalar sıvı-elektrolit tedavisi alırken, bir kısmı kan ürünü almıştır. Dört hasta intravenöz immünglobulin IVIG , 69 hasta ribavirin tedavisi almıştır.Sonuç: Çocuklarda KKKA klinik bulguları erişkinlerdekine benzerdir. Serum immünglobulinleri düşük bulunan hastalarda verilen intravenöz immünglobulin IVIG tedavisi dışında diğer tedaviler benzer bulunmuştur. KKKA’da immün yetmezlik araştırılması konusunda daha geniş çaplı çalışmalara ihtiyaç vardırÖğe The Association of Birth Weight with Cardiovascular Risk Factors in Early Childhood(Gazi Univ, Fac Med, 2021) Dogan, Melih Timucin; Duksal, Fatma; Gultekin, AsimObjective: Our objective was to determine the effect of birth weight (BW) on risk factors of cardiovascular disease and body composition in early childhood. Method: This descriptive and cross-sectional study included 66 early childhood aged between 2-5 years. The study population were stratified to three categories according to birth weight group: term appropriate for gestational age (AGA) children (n=22), term small for gestational age (SGA) children (n=22), term macrosomic children (n=22). Results: There was no significant difference with regard to gender, mode of delivery. The height, head circumference, triceps skinfold thickness, chest and waist circumference in early childhood were similar in the three groups. Body mass index (BMI) were significantly higher in macrosomic group compared wtih SGA and AGA groups. The fasting glucose levels were significantly higher in SGA group and macrosomic group respectively than in AGA group. The children in SGA group had significantly higher insulin levels and Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) index when compared to the children in AGA and macrosomic groups. Total cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, systolic and diastolic blood pressure were comparable among the study groups. Coclusion: Our study shows that insulin levels and HOMA-IR indexes were higher at early childhood in SGA group when compared to the children in AGA and macrosomic groups. There were no differences between three groups in terms of anthropometric measurements, except BMI.Öğe Tracheal Bronchus and Extremity Anomaly in a Seven month Old Child(Derman Medical Publ, 2014) Duksal, Fatma; Ekici, Mahmut; Aslaner, Betul; Cevit, Omer; Kaptanoglu, MelihAbnormalities resulted from trachea or main bronchi are the rare causes of recurrent pulmonary infections. This ratio is increasing in patients with cardiac, renal, limb abnormalities or genetic disorders. Tracheal bronchus was diagnosed in a patient with recurrent pulmonary infections and extremity anomalies. In this article, a 7-month old male patient with tracheal bronchus is presented.
