Browsing by Author "Ozkinay, F"

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    Vitamin D receptor gene polymorphism in children with urinary tract infection
    Aslan, S; Akil, I; Aslan, G; Onay, H; Ozyurt, BC; Ozkinay, F
    It is known that small alterations leading to different vitamin D receptor (VDR) alleles affect resistance or susceptibility to infections. In this study, we examined VDR gene polymorphisms in urinary tract infections (UTI), which are common and an important cause of morbidity in children and subsequently of renal scar formation. We evaluated 92 patients diagnosed with UTI and 105 children without prior history of UTI as a control group. The VDR gene polymorphisms BsmI, FokI, ApaI, and TaqI were evaluated in patients and controls. BsmI polymorphism genotype distribution was similar between groups. There was a significant difference between groups for FokI (p = 0 < 001); for the ff genotype, the risk of UTI was significantly increased (p < 0.01) ,at 3.94 times higher (odds ratio = 3.94; 95% confidence interval 1.71-9.09). ApaI polymorphism was significantly increased in the control group (p < 0.01) and evaluated as a protective factor. Comparing the TaqI genotype between groups, there was no statistically significant difference, but in both Tt and tt genotypes, there was minimal increased risk of UTI. The results of this study suggest that VDR gene polymorphisms can be important for susceptibility to UTI and renal scar formation. Association between VDR polymorphisms and UTI is in accordance with the understanding of how vitamin D modulates the immune response against infections.
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    Vitamin D receptor gene polymorphism in children with urinary tract infecion
    Akil, I; Aslan, S; Aslan, G; Onay, H; Ozyurt, B; Ozkinay, F
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    Screening Di George Syndrome with A Single Tube of Blood in Cases with Congenital Cardiopathies
    Aksu, G; Karaca, NE; Koroglu, OA; Karaca, E; Kanik, ET; Levent, E; Ozkinay, F
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    E-CADHERIN GENE PROMOTER METHYLATION IN PEDIATRIC ASTHMA PATHOGENESIS AND CLINICS
    Zaraci, K; Ozkinay, F; Yilmaz, O; Atik, T; Basbay, Y; Isik, E; Yuksel, H
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    Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar
    Akil, I; Ozkinay, F; Onay, H; Canda, E; Gumuser, G; Kavukcu, S
    The aim of this study was to evaluate the effect of the TLR-4 gene TLR4 c.896A
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    ADAM33, TLR-4 and CCR5Δ32 polymorphisms in children sensitized to same antigen displaying different phenotype
    Yuksel, H; Onay, H; Yilmaz, O; Sogut, A; Pehlivan, S; Kirmaz, C; Ozkinay, F
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    Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations
    Ozkinay, F; Isik, E; Simsek, DG; Aykut, A; Karaca, E; Ozen, S; Bolat, H; Atik, T; Saygili, F; Kartal, E; Gul, U; Anik, A; Tutunculer, F; Eren, E; Ozbek, MN; Bober, E; Abaci, A; Kirel, B; Ersoy, B; Buyukinan, M; Kara, C; Cakir, EP; Yildirim, R; Isguven, P; Dagdeviren, A; Agladioglu, SY; Dogan, M; Sangun, O; Arslanoglu, I; Korkmaz, HA; Temiz, F; Onay, H
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    Isik, E; Aydinok, Y; Albayrak, C; Durmus, B; Karakas, Z; Orhan, MF; Sarper, N; Aydin, S; Unal, S; Oymak, Y; Karadas, N; Turedi, A; Albayrak, D; Tayfun, F; Tugcu, D; Karaman, S; Tobu, M; Unal, E; Ozcan, A; Unal, S; Aksu, T; Unuvar, A; Bilici, M; Azik, F; Ay, Y; Gelen, SA; Zengin, E; Albudak, E; Eker, I; Karakaya, T; Cogulu, O; Ozkinay, F; Atik, T
    ObjectivesIn congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.MethodsOne hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction.ResultsMolecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR.ConclusionsIn this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.
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    Epidemiological, Clinical, and Laboratory Features of Children With COVID-19 in Turkey
    Karbuz, A; Akkoc, G; Demirdag, TB; Ciftdogan, DY; Ozer, A; Cakir, D; Torun, SH; Kepenekli, E; Erat, T; Dalgic, N; Ilbay, S; Karaaslan, A; Erdeniz, EH; Aygun, FD; Bozdemir, SE; Hatipoglu, N; Emiroglu, M; Bal, ZS; Ciftci, E; Bayhan, GI; Aydin, ZGG; Demir, SO; Kilic, O; Hacimustafaoglu, M; Okur, DS; Sen, S; Yahsi, A; Akturk, H; Cetin, B; Sutcu, M; Kara, M; Uygun, H; Kara, TT; Korukluoglu, G; Akgun, O; èstundag, G; Mis, MD; Sali, E; Kaba, O; Yakut, N; Kilic, O; Kanik, MK; Cetin, C; Dursun, A; Cicek, M; Kockuzu, E; Sevketoglu, E; Alkan, G; Ozenen, GG; Ince, E; Baydar, Z; Ozkaya, AK; Ovali, HF; Tekeli, S; Celebi, S; Cubukcu, B; Bal, A; Khalilova, F; Kose, M; Hatipoglu, HU; Dalkiran, T; Turgut, M; Altas, AB; Duru, HNS; Aksay, A; Saglam, S; Yanartas, MS; Ergenc, Z; Akin, Y; Kar, YD; Sahin, S; Tuteroz, SK; Bilen, NM; Ozdemir, H; Senoglu, MC; Kucukalioglu, BP; Besli, GE; Kara, Y; Turan, C; Demirtas, BS; Celikyurt, A; Cosgun, Y; Elevli, M; Sahin, A; Oguz, SB; Somer, A; Karadag, B; Demirhan, R; Dagi, HT; Kurugol, Z; Taskin, EC; Sahiner, A; Yesil, E; Keles, YE; Sarikaya, R; Eralp, EE; Ozkinay, F; Konca, HK; Yilmaz, S; Gokdemir, Y; Arga, G; Ozen, S; Coksuer, F; Vatansever, G; Tezer, H; Kara, A
    Objectives: The aim of this study is to identify the epidemiological, clinical, and laboratory features of coronavirus disease 2019 (COVID-19) in children. Methods: A retrospective study was conducted by pediatric infectious disease specialists from 32 different hospitals from all over Turkey by case record forms. Pediatric cases who were diagnosed as COVID-19 between March 16, 2020, and June 15, 2020 were included. Case characteristics including age, sex, dates of disease onset and diagnosis, family, and contact information were recorded. Clinical data, including the duration and severity of symptoms, were also collected. Laboratory parameters like biochemical tests and complete blood count, chest X-ray, and chest computed tomography (CT) were determined. Results: There were 1,156 confirmed pediatric COVID-19 cases. In total, male cases constituted 50.3% (n = 582) and females constituted 49.7% (n = 574). The median age of the confirmed cases was 10.75 years (4.5-14.6). Of the total cases, 90 were younger than 1 year of age (7.8%), 108 were 1-3 years of age (9.3%), 148 were 3-6 years of age (12.8%), 298 were 6-12 years of age (25.8%), 233 were 12-15 years of age (20.2%), and 268 cases were older than 15 years of age (23.2%). The most common symptom of the patients at the first visit was fever (50.4%) (n = 583) for a median of 2 days (IQR: 1-3 days). Fever was median at 38.4 degrees C (38.0-38.7 degrees C). The second most common symptom was cough (n = 543, 46.9%). The other common symptoms were sore throat (n = 143, 12.4%), myalgia (n = 141, 12.2%), dyspnea (n = 118, 10.2%), diarrhea (n = 112, 9.7%), stomachache (n = 71, 6.1%), and nasal discharge (n = 63, 5.4%). When patients were classified according to disease severity, 263 (22.7%) patients were asymptomatic, 668 (57.7%) patients had mild disease, 209 (18.1%) had moderate disease, and 16 (1.5%) cases had severe disease. One hundred and forty-nine (12.9%) cases had underlying diseases among the total cases; 56% of the patients who had severe disease had an underlying condition (p < 0.01). The need for hospitalization did not differ between patients who had an underlying condition and those who do not have (p = 0.38), but the need for intensive care was higher in patients who had an underlying condition (p < 0.01). Forty-seven (31.5%) of the cases having underlying conditions had asthma or lung disease (38 of them had asthma). Conclusions: To the best of our knowledge, this is one of the largest pediatric data about confirmed COVID-19 cases. Children from all ages appear to be susceptible to COVID-19, and there is a significant difference in symptomatology and laboratory findings by means of age distribution.