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    45,X[75]/46,Xdel(X)(p11.2)[25] Karyotipine sahip unikornuat uteruslu olgu
    (2019) Eröz, Recep; Köksal, Mehmet; Doğan, Mustafa; Yüce, Hüseyin; Başbuğ, Alper
    Turner sendromu, önemli bir infertilite nedenidir ancak mozaik veya X delesyonu taşıyan hastalarda eğer puberteye spontan olarakgirilmişse gebelik gerçekleşebilmektedir. Unikornuat uterus ise gebelik kaybına yol açabilen ve çok nadir rastlanılan bir uterusanomalisidir. Şu anki olgu, nadir görülmesi ve Turner sendromlu hastalarda gebelik kayıplarının bir nedenin ortaya konması gibiyönleriyle literatüre katkı sağlamak amacıyla sunulmuştur.
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    ANOPHTHALMIA-PLUS SYNDROME WITH UNUSUAL FINDINGS. A CLINICAL REPORT AND REVIEW OF THE LITERATURE
    (Medecine Et Hygiene, 2013) Çayır, Atilla; Taşdemir, Şener; Eröz, Recep; Yüce, İhsan; Orbak, Zerrin; Tatar, Abdulgani
    Anophthalmia-Plus Syndrome with unusual findings. A clinical report and review of the literature: We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.
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    Apoptozis Hakkında Bilinenler (Literatür Taraması)
    (2012) Eröz, Recep; Karataş, Ahmet; Alkoç, Ozan Alper; Baltacı, Davut; Oktay, Murat; Çolakoğlu, Serdar
    Canlı organizmalarda organogenezisten, çeşitli hastalıklara kadar birçok mekanizmada rol alan apoptozis, en çok dikkat çeken ve üzerinde çok sayıda araştırmaların yapıldığı bilinmesi gereken önemli bir mekanizmadır. Biz bu derlemede apoptozis ile ilgili bilinenleri okuyuculara sunmaya çalıştık.
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    Are there any effects of chronic carbon monoxide exposure on argyrophilic nucleolar-organizing region-associated protein synthesis in rat myocardium?
    (Sage Publications Ltd, 2016) Sarıtaş, A.; Güneş, Harun; Çolakoğlu, Serdar; Eröz, Recep; Aköz, Ayhan; Oktay, Murat; Özkan, A.
    The aims of the study are to detect whether there are any possible effects of chronic carbon monoxide (CO) exposure on the argyrophilic nucleolar-organizing region (AgNOR)-associated protein synthesis and evaluate any possible relationship between the amount of AgNOR protein and the level of myocardial injury also and between AgNOR and histopathological evaluation methods. Adult male albino Wistar rats (n = 18) were randomly divided into three groups (groups A, B, and C). Group A served as control, while groups B and C were rats exposed to CO gas chrbnically (1000 and 3000 ppm CO concentration with a flow rate of 4 L/min for 30 min/day for 7 days, respectively). Total AgNOR area/nuclear area (TAA/NA) and the mean AgNOR numbers for each myocyte nucleus were determined. There were significant differences among all groups for TAA/NA ratio. These differences were not significant for mean AgNOR numbers. According to the histopathological evaluation scores, there were significant differences between the groups. The differences were significant among the groups for loss of sarcomere pattern. A strong positive correlation between histopathological injury scores and TAA/NA ratio was found (R-sq = 0.48; p = 0.002), however, the correlation was not significant for mean AgNOR numbers (R-sq = 0.08; p = 0.25). In conclusion, TAA/NA ratio can be used as an indicator for obtaining information about the level of myocardial damage instead of histopathological evaluation scores.
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    Argyrophilic Nucleolar Organizer Regions as New Biomarkers in ST-Elevation Myocardial Infarction
    (Mdpi, 2022) Damar, İbrahim Halil; Eröz, Recep
    (1) Background: ST-elevation myocardial infarction (STEMI) is an inflammatory disease in which neutrophils, macrophages, and lymphocytes accumulate in the ischemic myocardium and have important functions. Nucleolar-organizing regions (NORs) are the site of the ribosomal genes composed of ribosomal DNA and proteins. We aimed to evaluate AgNOR proteins, which have never been studied in patients with STEMI in the literature. (2) Methods: A total of 140 participants (75 with STEMI and 65 volunteers without any diagnosis of acute coronary syndrome) were included in this study. Echocardiography was carried out, and mean AgNOR number and total AgNOR area/total nuclear area (TAA/TNA) were evaluated for all individuals. (3) Results: The mean AgNOR number and TAA/TNA ratio were significantly higher in the STEMI group than the control (p < 0.001). Statistically significant relations between both TAA/TNA ratio and mean AgNOR number and interventricular septal thickness, fasting blood sugar, creatinine, HDL, hemoglobin (g/dL), WBC (mu L/mL), monocytes, neutrophils, and neutrophil/lymphocyte ratio were detected (p < 0.05). Moreover, a statistically significant relation between LDL (mg/dL) and mean AgNOR number (p = 0.005) was detected. (4) Conclusion: Both AgNOR protein amounts increase depending on the hypoxia that occurs in STEMI. The AgNOR proteins may thus be promising markers in STEMI.
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    Argyrophilic nucleolar organizing region associated protein synthesis for cytologic discrimination of follicular thyroid lesions
    (Informa Healthcare, 2015) Oktay, Murat; Eröz, Recep; Oktay, N.A.; Erdem, Havva; Başar, Feyza; Akyol, L.; Bahadır, Anzel
    Fine needle aspiration biopsy (FNAB) of the thyroid gland is an important tool for preoperative diagnosis; however, its benefit is limited for follicular lesions. Nucleolar organizer regions (NORs) are ribosomal gene regions that stain with silver (Ag) when they are active. These regions can be used to differentiate neoplastic and non-neoplastic lesions. We used a new AgNOR technique to investigate FNAB of cases diagnosed as follicular adenoma and carcinoma. Fourteen cases of follicular thyroid carcinoma (FTC) and 28 cases of thyroid follicular adenomas (FA) were stained using the silver NOR-associated protein (AgNOR) technique. One hundred nuclei per sample were examined, AgNORs were counted, and the total AgNOR area/nuclear area (TNORa/Na) ratio of each cell was calculated. We found that cases with FTC had significantly higher TNORa/Na than cases of FA. Also, cases with FTC had significantly higher AgNOR counts than cases with FA. AgNOR counting may help discriminate FTC and FA by routine cytopathology before surgery.
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    Argyrophilic nucleolar organizing region associated protein synthesis in hair root cells of humans at different developmental stages and sex
    (Taylor & Francis Ltd, 2013) Eröz, Recep; Yılmaz, S.; Cücer, Nurhan
    Argyrophilic nucleolar organizing region (AgNORs) associated proteins are important for cell proliferation and various diseases. We investigated AgNOR protein synthesis in hair root cells of males and females at different ages using two-dimensional image analysis. Experiments were performed on 58 healthy male and 24 healthy female volunteers in three groups according to age and sex. Hair root cells obtained from hair follicles were stained with silver. Total AgNOR number/total nuclear number (TAN/TNN) and total AgNOR area/nuclear area (TAA/NA) for each nucleus were analyzed. The only significant difference was observed in TAA/NA values for males and females from 6 to 12 years old. We suggest that the difference is due to high NOR activity caused by increased growth hormone production in hair root cells.
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    Association between e-NOS gene Polymorphisms and Cardiac Anomaly in Children with Down Syndrome
    (Elsevier Science Inc, 2013) Eröz, Recep; Okur, Mesut; Bektaş, Mehmet Selçuk; Gülşen, Süleyman; Bahadır, Anzel; Türker, Yasin; Güneş, Cemalettin
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    Association Between Human Hair Loss and the Expression Levels of Nucleolin, Nucleophosmin, and UBTF Genes
    (Mary Ann Liebert, Inc, 2016) Taşdemir, Şener; Eröz, Recep; Doğan, Hasan; Erdem, Haktan Bağış; Şahin, İbrahim; Kara, Murat; Türkez, Hasan
    Aims: Nucleolar organizer regions, also known as argyrophilic nucleolar organizer regions, are associated with ribosomal genes. The main function of the nucleolus is the rapid production of ribosomal subunits, a process that must be highly regulated to provide the appropriate levels for cellular proliferation and cell growth. There are no studies in the literature addressing the expression and function of nucleolar component proteins, including nucleophosmin, nucleolin and the upstream binding transcription factor (UBTF), in human follicular hair cells. Methods: Nineteen healthy males who had normal and sufficient hair follicles on the back of the head, but exhibited hair loss on the frontal/vertex portions of the head and 14 healthy males without hair loss were included in the current study. Gene expression levels were measured by relative quantitative real time polymerase chain reaction. Results: In the individuals suffering from alopecia, the total expression levels of nucleolin, nucleophosmin, and UBTF were lower in normal sites than in hair loss sites. Strong expression level correlations were detected between: nucleophosmin and nucleolin; nucleophosmin and UBTF, and nucleolin and UBTF for both groups. Conclusions: There was an association between human hair loss and the expression levels of nucleolin, nucleophosmin, and UBTF genes.
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    Association between Patients' Sociodemographic Characteristics and their Satisfaction with Primary Health Care Services in Turkey
    (Kuwait Medical Assoc, 2013) Baltacı, Davut; Eröz, Recep; Ankaralı, Handan; Erdem, Özgür; Celer, Ahmet; Korkut, Yasemin
    Objective: To investigate the influence of patient's socio-demographic features on patient's satisfaction with primary health care (PHC) services in the Turkish population Design: Cross-sectional and population-based study Settings: Forty-five family health centers from 15 cities throughout Turkey Subjects: One thousand two hundred and ten patients were randomly selected. The self-administered study survey was applied. Main Outcome Measures: Association between patients' sociodemographic features and patient satisfaction with primary care settings Results: The mean age of subjects was 37.4 +/- 14.7 years. When mean total score for incisions of sociodemographic features was evaluated, it was observed that the patient satisfaction level was high in female than male patients, married than unmarried patients, patients with high income than low income, in employed and unemployed than officers (p = 0.028, p = 0.043, p = 0.001, and p = 0.006, respectively). The patients with high income level had significantly higher level of satisfaction than those with low income in all domains of patient satisfaction. Female patients were more satisfied with communication, medical care, and support and information domains. Married patients were more satisfied with communication and medical care. The officers were less satisfied than other status of occupation. The patients with university level of education were more satisfied than those with middle and high school level of education. Conclusion: Income level, marital and occupational status of patient's sociodemographic features had significant influence on satisfaction levels in the Turkish population
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    Association Between Survivin Gene Polymorphisms and the Susceptibility to Colon Cancer Development in the Turkish Population
    (Asian Pacific Organization Cancer Prevention, 2014) Yamak, Nesibe; Yaykaşlı, Kürşat Oğuz; Yılmaz, Ümit; Eröz, Recep; Uzunlar, Ali Kemal; Ankaralı, Handan; Baltacı, Davut
    Background: Colon cancer is one of the most common cancers worldwide. Apoptosis is a necessary physiological process for cell elimination which is very important both cellular homeostasis and cell proliferation and differantiation. Dysregulation can lead to uncontrolled cell growth and tumor development. Survivin, a member of the IAP family, plays a key role in promotion of cell proliferation as well as inhibition of apoptosis in cancer cells. The aim of this study was to investigate whether specific genetic polymorphisms of survivin could be associated with colon cancer development and progression in a Turkish population. Our study is the first to our knowledge to investigate the relationship between colon cancer risk and survivin gene polymorphisms. Materials and Methods: The relation between colon cancer and survivin -31 G/C (rs9904341), -241 C/T (rs17878467) and -625 C/G (rs8073069) polymorphism in promotor site of survivin gene associated with apoptosis was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: Individuals with -31C allele and CC genotype were found to have a higher risk of developing colon cancer (OR=13.4, p=0.01). The -241 CT genotype considerably increased the risk of colon cancer (OR=12.0, p=0.0001). However, there was no significant varaition of the survivin -625 C/G polymorphism among colon cancer patients and controls in our study. Conclusions: This study provides the first evidence that survivin -31 G/C and -241 C/T SNP significantly contribute to the risk of colon cancer in the Turkish population.
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    Association of Endothelial Nitric Oxide Synthase Gene Polymorphisms (894G/T,-786T/C, G10T) and Clinical Findings in Patients with Migraine
    (Humana Press Inc, 2014) Eröz, Recep; Bahadır, Anzel; Dikici, Süber; Tasdemir, Sener
    Migraine is a common neurological disorder characterized by recurrent attacks, unilateral head pain, and related symptoms. The aim of this study was to investigate three endothelial nitric oxide synthase (eNOS) polymorphisms in 176 patients with migraine and 123 healthy individuals. Clinical and biochemical parameters were investigated. Genetic analysis was performed using the polymerase chain reaction-restriction fragment length polymorphism method. The differences between migraine cases and the control group were significant for two polymorphisms (-786T/C and 894G/T) (p = 0.000). Homocysteine and body mass index (BMI) were significantly higher in the migraine group than in the control group (p = 0.001 and p = 0.000). The relation between -786T/C genotype and BMI and allodynia was significant. TC heterozygotes and CC homozygotes were significantly higher in the migraine group than in the control group (OR 2.843 and 95 % CI 1.681-4.808 and OR 3.729 and 95 % CI 1.784-7.792, respectively). The 894G/T genotype was correlated with BMI, pain intensity, age at the onset of migraine, nausea, tension, compression, and allodynia. For this polymorphism, GT heterozygotes and TT homozygotes were significantly higher in the migraine group than in the control group (OR 3.027 and 95 % CI 1.830-5.008 and OR 3.221 and 95 % CI 1.223-8.484, respectively). The G10T genotype was correlated with attack duration and age at the onset of migraine (p = 0.008 and p = 0.040). eNOS polymorphisms may be useful markers for assessing migraine risk and clinical diagnosis.
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    The Association of Hereditary Prothrombotic Risk Factors with ST-Elevation Myocardial Infarction
    (2020) Damar, Ibrahim Halil; Eröz, Recep
    Objective: The ST- elevation myocardial infarction (STEMI), a serious health care problem, iscommonly a thrombotic complication of coronary artery disease. We compare the STEMI patients and control group in terms of the possible causes of inherited thrombophilia includingFactorV Cambridge G1091C, FactorV Leiden G1691A, MTHFRC677T, MTHFR A1298C, FactorIIG20210A, Factor XIII (V34L), PAI-1, FGB, ITGB3, APOB, FVHR2, ACE gene variants.Methods: Fifty-three patients with STEMI and 47 individuals without diagnosis of acute coronarysyndrome were included in the study. Percutaneous coronary intervention was performed forpatients with STEMI. Echocardiography was performed and inherited thrombophilia genes wereevaluated in all subjects.Results: The MTHFR A1298C, Factor XIII (V34L), ITGB, ACE and homozygous or compoundheterozygous gene varations of inherited thrombophilia are significantly related with STEMI(p<0.05). Also significantly higher MTHFR A1298C, FactorV Leiden G1691A, PAI and ACE genevariations in MI patients who were smokers; Factor XIII (V34L), PAI and ACE gene variations inMI patients with HT; PAI and ACE gene variation in MI patients with FH and PAI gene variationsin MI patients with HL were detected when compared with the control groups with all of thesame risk factors (p<0.05).Conclusion: Hereditary thrombophilia factors may show promise in the prevention and management of STEMI when supported studies with larger case series.
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    Atypical presentation in patients with 17 ?-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature
    (2020) Bolu, Semih; Eröz, Recep; Tekin, Mehmet; Doğan, Mustafa
    Background. Patients with 17?-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD. Cases. We report five patients of Kurdish origin with 17 OHD, four of whom had short stature; two presented because of short stature and two were detected as having short stature. The external genitalia had a female appearance and was prepubertal in all cases. Hypertension was also detected in four of the patients. Serum biochemical and hormonal analyses were performed for each patient. Laboratory data suggesting severe growth hormone (GH) deficiency were obtained from one patient, while the other had a familial history suggesting constitutional delay of growth and puberty (CDGP). Whole exome sequence analysis of the CYP17A1 gene was performed on all patients. STR fragment analysis and multiplex ligation dependent probe amplification (MLPA) analysis was also performed to detect mutations associated with congenital adrenal hyperplasia (CAH) in the CYP17A1 gene. No mutation was detected in the whole exome sequence analysis of the CYP17A1 gene in all five patients, although wide deletions were identified in the 1st–6th exons of this gene at MLPA analysis. Conclusions. Patients with 17?-hydroxylase deficiency can present with short stature because they have no pubertal growth spurt during adolescence. Therefore, 17 OHD should be considered in the differential diagnosis of patients with delayed puberty and short stature.
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    Bilateral Sprengel Deformite, Konjenital Tek Taraflı Böbrek Agenezisi, MEFV Geninde M680İ (GC)Heterozigot Mutasyonu Olan Klippel-Feil Sendromlu Yedi Yaşında Bir Kız Olgu
    (2017) Doğan, Mustafa; Bolu, Semih; Yüce, Hüseyin; Eröz, Recep
    KFS, kısa boyun, düşük arka saç çizgisi ve boyun hareketlerini kısıtlayan servikal vertebraların füzyonuyla karakterizedir. Biz bilateral Sprengel deformiteli, konjenital tek taraflı böbrek agenezisi ve MEFV gen mutasyonu olan bir bayan KFS'li vakayı sunduk. Hastanın fizik muayenesi, rutin biyokimyasal, radyolojik değerlendirilmesi yapıldı ve aile öyküsü alındı. İlaveten, kromozomal analiz, MEFV geninin tüm ekzom sekans analizi ve GDF6 geninin sekans analizi yapıldı. Hastada kısa boyun, baş ve boyun hareketleri kısıtlanmış, düşük posterior saç çizgisi, bilateral Sprengel deformitesi, hafif skolyoz ve konjenital tek taraflı renal agenezisi vardı. Ayrıca hastanın parsiyel vertebra füzyonu vardı. Hasta, servikal kifoz, spinal kanalın füziform genişlemesi, servikal spinal kordun artmış kalınlığı, spinal kordun merkezinde yaklaşık 1.5 cm'ye ulaşan kistik genişlemeye ve normal karyotipe sahipti. Vakanın M680I(GC) mutasyonu vardı. Vakanın GDF6 geni analiz sonucu normaldi. Bildiğimiz kadarıyla bu; KFS, bilateral Sprengel deformite, konjenital tek taraflı renal agenezi ve FMF mutasyonunun birlikte olduğu ilk vakadır. KFS'li olgularda nörolojik defisitlerin minör travma sonrası görülmesi nedeniyle hasta, dikkatli olmalı ve ağır egzersizden kaçınmalıdır. Hastanın karaciğerinde ve dalağında kistler ve aile geçmişinde böbrek yetmezliği vardı. Bu nedenle hasta polikistik böbrek rahatsızlığı açısındanda değerlendirilmektedir. Bunlara ilaveten, vaka MEFV geninde mutasyona sahip olduğundan, amiloidozis riski için hasta yaşamı süresince böbrek rahatsızlığı açısından takip edilmelidir.
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    A boy with short stature, unusual findings and low percentage of 45,X(4%) / 46,XY(96%) mosaicism
    (Editions Medecine et Hygiene, 2016) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gün, Emrah
    [No abstract available]
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    A BOY WITH SHORT STATURE, UNUSUAL FINDINGS AND LOW PERCENTAGE OF 45,X(4%)/46,XY(96%) MOSAICISM
    (Medecine Et Hygiene, 2016) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gün, Emrah
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    Can argyrophilic nucleolar organizing region-associated protein amount be used for the detection of cardiac damage?
    (Sage Publications Ltd, 2016) Kandiş, Hayati; Afacan, Mustafa Ahmet; Eröz, Recep; Çolakoğlu, Serdar; Bayramoğlu, Ayşegül; Oktay, Murat
    Introduction: Carbon monoxide (CO) is a colorless, tasteless, odorless, nonirritant gas and CO poisoning affects all organ systems. Aim: We aimed to detect any possible effects of CO exposure on the argyrophilic nucleolar organizing region (AgNOR)-associated protein synthesis of heart cells and whether there is any relationship between AgNOR protein amount and both carboxyhemoglobin (COHb) level and histopathological evaluation methods used for the detection of damage in heart tissue after CO exposure. Materials and Methods: The rats were divided into four groups (control, 1000, 3000, and 5000 ppm), each containing six rats. After CO intoxication, COHb levels were measured and the animals were killed on the 7th day. AgNOR staining was performed in the heart tissue. One hundred nuclei per rat were evaluated, and total AgNOR area/nuclear area and mean AgNOR number were analyzed for each nucleus. The CO exposure groups had significantly higher AgNOR values than the control group (p < 0.0001). According to cardiomyopathy (CMY) scoring methods, the differences between groups 3 and 4 and groups 1 and 2 were significant (p < 0.05). A significant positive correlation between AgNOR values and both CMY and COHb levels were detected. Conclusion: The detection of AgNOR protein amount may give information about the CMY levels and be used to detect the CO intoxication levels instead of COHb in later periods.
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    Can sHLA-G level in embryo culture media be an indicator of the embryo selection for IVF applications?
    (Current Biology Ltd, 2011) Köksal, Mehmet; Cücer, Nurhan; Eröz, Recep
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