Person: TRUE, ÖMER
Loading...
Email Address
Birth Date
Research Projects
Organizational Units
Job Title
Last Name
TRUE
First Name
ÖMER
Name
16 results
Search Results
Now showing 1 - 10 of 16
Publication Metadata only Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment(2023-01-01) TRUE, ÖMER; BUĞDAYCI, ONUR; GÜRAN, TÜLAY; BEREKET, ABDULLAH; Menevse T. S., Iwasaki Y., Abali Z. Y., Tosun B. G., Helvacioglu D., DOĞRU Ö., BUĞDAYCI O., Cyr S. M., GÜRAN T., BEREKET A., et al.Introduction: Pseudohypoparathyroidism type IA (PHP1A) is characterized by end-organ resistance to multiple hormones and Albright’s hereditary osteodystrophy (AHO). PHP1A is caused by inactivating mutations of the GNAS gene encoding the α-subunit of the stimulatory G protein (Gsα). In line with the underlying genetic defect, impaired inhibition of platelet aggregation has been demonstrated in some patients. However, no PHP1A case with thrombotic events has been described. Also, PHP1A cases typically have subcutaneous ossifications, but soft tissue calcifications are another common finding. Treatment options for those and other nonhormonal features of PHP1A are limited. Case Presentation: A female patient presented with short stature, fatigue, and exercise-induced carpopedal spasms at age 117/12 years. Diagnosis of PHP1A was made based on hypocalcemia, hyperphosphatemia, elevated serum parathyroid hormone, and AHO features, including short stature and brachydactyly. A novel frameshift variant was detected in the last exon of GNAS (c.1065_1068delGCGT, p.R356Tfs*47), showing complete loss of baseline and receptor-stimulated activity in transfected cells. The patient developed venous thrombosis and vascular and subcutaneous calcifications on both forearms after venous puncture on the right and extravasation of calcium gluconate during treatment on the left. The thrombosis and calcifications completely resolved following treatment with low-molecular-weight heparin and acetazolamide for 5 and 8 months, respectively. Conclusions: This case represents the first PHP1A patient displaying thrombosis and the first successful use of acetazolamide for PHP1A-associated soft tissue calcifications, thus providing new insights into the treatment of non-endocrinological features in this disease.Publication Metadata only Primer immun yetmezlik tanılı hastalarda malignite çeşitliliği(2018-04-11) TRUE, ÖMER; EKER, NURŞAH; KIYKIM A., SÜREKLİ Ö., NAİN E., KASAP N., AKTÜRK H., DOĞRU Ö., EKER N., CANBOLAT A., SOMER A., KOÇ A., et al.İRİŞ: Primer immün yetmezliği (PIY) olan hastalarda malignite gelişimi normal popülasyona göre daha yüksek oranda görülmektedir. Kliniğimizde takip ettiğimiz primer immün yetmezliği olan hastalarda gelişen maligniteleri, risk faktörlerini ve tedavileri sunmayı amaçladık. Yöntem: Primer immün yetmezliğe sahip olan ve malignite geliştiren 16 hastanın verileri değerlendirildi. Demografik özellikler, geçirilen enfeksiyonlar, otoimmünite, gelişen malignite tipleri, tedavi ve prognozları değerlendirildi. Bulgular: Toplam 17 hastanın yaş: 16.2±8.8 yıl, malignite gelişme yaşı 11.7±6.8 yıl idi. Hastaların tanıları sırasıyla: Kombine immün yetmezlik (n:13), antikor eksikliği ile giden immün yetmezlik (n: 4) idi. Kombine IY grubunda Bloom Sendromu (n:2), Ataksi-Telenjektazi (n:1), DOCK 8 eksikliği (n:2), Pürin Nükleozid Fosforilaz eksikliği (n:1), Epstein-Barr Virus ilişkili immün yetmezlik (n: 2), Nijmegen breakage sendromu (n:1), 4 hastada ise kombine immün yetmezliğin moleküler nedeni belirlenemedi. Antikor eksikliği grubunda, yaygın değişken immün yetmezlik (n:2), fosfoinositol 3 kinaz reseptör-1 eksikliği (n:2) bulunmaktaydı. En sık görülen malignite lenfoma (n:8) iken, kolanjiokarsinom, Wilms tümörü, gastrik ve kolon adenokarsinom, vulvar skuamöz karsinom, akut myeloid lösemi, nazal skuamöz karsinom diğer görülen malignitelerdi. Üç olguda ciddi non-neoplastik lenfoproliferasyon saptandı. Lenfoma geliştiren olguların 5'inde EBV pozitifliği saptandı. Toplam 6 olgu malignite tedavisi sırasında kaybedildi. Genel sağkalım oranı %64.7 olarak belirlendi (Şekil 1). Sonuç: PIY'lerde malignite gelişimi bir çok faktörle ilişkili olabilmektedir. Altta yatan genetik nedenler kronik yangı, DNA tamir kusurları, myeloid ve lenfoid hücrelerde gelişim bozukluklarına neden olarak maligniteye yatkınlık yaratabilmektedir. Bunun yanında sık geçirilen enfeksiyonlar ve çevresel etkenler de PIY hastalarında malignite oluşumunu kolaylaştırmaktadır.Publication Metadata only Outcome of ewing sarcoma in children, twenty years experience from a single center in Turkey(2017-09-01) EKER, NURŞAH; TOKUÇ, AYŞE GÜLNUR; TRUE, ÖMER; EKER N., YILMAZ B., TOKUÇ A. G., ŞENAY R. E., BERK B., DOĞRU Ö.Background/Objectives: Ewing sarcoma (ES) is the second common primary bone malignancy in pediatric patients. Usually, these tumors occur in bone but sometimes they can olsa orginate in soft tissue. These tumors are agressive and treatment involves multidurgs chemotherapy, radiotherapy and surgery. The aim of this study was to determine outcomes of Ewing sarcoma in pediatric patients who was treated in our instution. Design/Methods: This is a retrospective study of 75 pediatric patients with Ewing Sarcoma treated in between 1996 to 2016. Results: During a 20-year period, 75 patients were identified with Ewing Sarcoma in hospital database and their records were analyzed retrospectively. Of the 75 patients, 45 (60%) were males, 30 (40%) were females. The mean age was 10 years (ranging from 1year to 17 years). All of the patients had received the same chemotherapy protocol at presentation. This protocol involved ifosfamide, etoposide, vincristine, doxorubicine, cyclophosphamide and actinomycin. After 3 cycles of chemotherapy, surgery had been performed for most of the patients. Radiotherapy had been performed for the patients who had more than 10% viable cells after pathological examinations. For these patients, chemotherapy had been changed and continued during and after radiotherapy. The second chemotherapy protocol invoved vincristine, cyclophosphamide and topotecan. At the presentation, 22 (29 %) patients had metastatic disease. During the follow up 16 (23 %) patients had relapsed. The 5-year event free survival and overall survival were 46 % and 58,5 %. Metastatic disease at presentation was the significant factor on overall survival. Conclusions: The management of a child or adolescent with Ewing sarcoma is best carried out in a specialized center under the care of a multidisciplinary team, in order to obtain the best outcome for the patient. Early diagnosis is very important because metastatic disease at presentation reduces the overall survival.Publication Metadata only Central nervous system tumors(2017-09-01) EKER, NURŞAH; TOKUÇ, AYŞE GÜLNUR; TRUE, ÖMER; YILMAZ B., EKER N., TOKUÇ A. G., DOĞRU Ö., ŞENAY R. E., BERK B.Background/Objectives: Central nervous system (CNS) tumors are the most common solid tumors in childhood. Our instution is the one of the major referral center for pediatric brain tumors in Turkey. We aimed to analyzed children with brain tumors who were diagnosed and treated at our center in this study. Design/Methods: This is a retrospective study of 96 pediatric patients with brain tumors treated in between 2009 to 2017. Sixteen patients were lost to follow-up and 80 patients were included in the analysis. Demographic informations, histologic subtypes, stage at diagnosis, treatment modalities and outcomes were evaluated, retrospectively. Results: Of the 80 patients, 42 (52.5%) were males, 38.5 (47.5%) were females. The mean age was 6.8 ± 4.6 years (ranging from 0.17 years to 15.5 years). The mean duration of follow up was 30 months. Mean survival time was 71.4 months (95% CI: 61.8 - 80.9). The most common localization was the infratentorial area (38.8%). Among all of the patients, gliomas are the most common histologic form (54 %) and 51,3% had grade IV stage for WHO. Five-year overall survival (OS) is 68 %. The most important factor for OS was tumor total resectabity. Total resectable patients OS was 81% vs gross total resection (GTR) was 49.5% vs partial resection was only 28% within 5 years. The children with diffuse infiltrative pontine glioma (DIPG) and atypical teratoid/rhabdoid tumor (AT/RT) had the worst prognosis and these patients died in the first year of their treatment. Conclusions: In developing countries, as the use of molecular studies could not be routinely performed in clinical practice. Brain tumors are relatively common cancers among children.usually the first and the most important step in therapy. Patients with the most complete resection have significantly longer survival despite all of the technological advances.Publication Open Access Crimean-Congo hemorrhagic fever with hemophagocytic lymphohistiocytosis(SOC BRASILEIRA MEDICINA TROPICAL) KEPENEKLİ KADAYİFCİ, EDA; Yakut, Nurhayat; Kepenekli, Eda; Dogru, OmerPublication Metadata only The utility of risk assessment tools for acute pulmonary embolism in children(2022-09-01) ERGENEKON, ALMALA PINAR; YILMAZ YEĞİT, CANSU; SELÇUK, MERVE; TRUE, ÖMER; ERDEM ERALP, ELA; GÖKDEMİR, YASEMİN; KARADAĞ, BÜLENT TANER; ERGENEKON A. P. , YILMAZ YEĞİT C., Cenk M., Gulieva A., Kalyoncu M., SELÇUK M., DOĞRU Ö., ERDEM ERALP E., GÖKDEMİR Y., Karakoc F., et al.Background and Aim Pulmonary embolism (PE) is a potentially life-threatening disease in children. The objective of the study is to evaluate the utility of adult-based pulmonary embolism rule-out criteria (PERC), Pediatric PE Model, and D-dimer in the diagnosis of PE in children. Material and Methods The study consisted of patients under 18 years of age who were consulted to the Pediatric Pulmonology Clinic for the evaluation of PE. Patients were divided into two groups based on the confirmation of PE. The group with the presence of PE (n = 20) consisted of children who were diagnosed with PE. The group with the absence of PE (n = 28) consisted of children with clinically suspected PE but negative diagnostic imaging. Adult validated clinical decision PERC rule and Pediatric PE Model were retrospectively applied to the patients. Results In the study, PERC demonstrated a sensitivity of 60% and a specificity of 46% for the diagnosis of PE in children. When PE Model was evaluated for the children, it was found a 50% sensitivity and 75% specificity. Combining PE Model and PERC rule with D-dimer did not increase the specificity and sensitivity. Smoking was found to be relevant for PE in the childhood. Twenty-five percent of the patients had a genetic tendency for PE. All of the patients had an underlying disease as well. Conclusion None of the current risk assessment tools (PE Model, PERC, D-dimer) were found to be accurate in predicting PE. Further larger population studies are still required to develop a better diagnostic approach.Publication Metadata only Prognostic evidence of LEF1 isoforms in childhood acute lymphoblastic leukemia(WILEY, 2021) TRUE, ÖMER; Erbilgin, Yucel; Ng, Ozden Hatirnaz; Can, Ismail; Firtina, Sinem; Kucukcankurt, Fulya; Karaman, Serap; Karakas, Zeynep; Celkan, Tulin Tiraje; Zengin, Emine; Gelen, Sema Aylan; Ozdemir, Gul Nihal; Yildirmak, Yildiz; Dogru, Omer; Tansel, Turkan; Khodzhaev, Khusan; Toluk, Ozlem; Ozbek, Ugur; Sayitoglu, MugeIntroduction The lymphoid enhancer factor 1 (LEF1) is a DNA-binding transcription factor that functions in the Wnt signaling pathway. Increased LEF1 activity is associated with progression of several types of cancer including leukemia. Here, we investigated LEF1 isoform expression and genomic variations in acute lymphoblastic leukemia (ALL). Methods LEF1 isoform expression was evaluated by quantitative real-time PCR in 87 newly diagnosed childhood ALL patients and controls. Moreover, Western blot analysis was performed for detection of LEF1 expression and the hotspot region of LEF1 was screened by deep sequencing. Results The LEF1 mRNA expression of B cell ALL patients was higher than the controls (LEF1-total P = .011, LEF1-long P = .026). Moreover, B-ALL samples showing higher total LEF1 expression had significantly shorter relapse-free survival (P = .008) and overall survival (P = .011). Although full-length LEF1 expression was similar to the controls in T-ALL, 50% (n = 15) of the ALL patients had increased full-length LEF1 protein expression. Imbalance between short- and full-length LEF1 isoforms may lead to cell survival in ALL. Beside the LEF1 activation, LEF1 gene variations were rarely observed in our cohort. Conclusion The results indicate that the Wnt pathway may have a pathogenic function in a group of ALL patients and high LEF1-total expression might be a marker for shorter relapse-free survival time in B cell ALL.Publication Metadata only Akut lenfoblastik lösemili düşük ve orta gelirli çocukların tedavisinde değiştirilmiş jude total therapy XV protokolünün sonuçları: marmara deneyimi(2022-05-25) KOÇ, AHMET; TRUE, ÖMER; Yılmaz B., Koç A., Doğru Ö., Taş B. T. , Şenay R. E.Publication Metadata only Akut lenfositik lösemi tanili olgularda fish analizi ile saptanan kromozomal yeniden düzenlenmelerin retrospektif incelenmesi(2021-11-28) GEÇKİNLİ, BİLGEN BİLGE; TOPTAŞ, TAYFUR; TRUE, ÖMER; ATA, PINAR; ALAVANDA C., GEÇKİNLİ B. B., Başer Z. M., Dirimtekin E., Demir Ş., POLAT H., ARSLAN ATEŞ E., TOPTAŞ T., DOĞRU Ö., ATA P., et al.Publication Open Access Successful treatment of refractory graft-versus-host disease with ruxolitinib in a child after autologous stem cell transplantation(2022-06-01) TRUE, ÖMER; TOKUÇ, AYŞE GÜLNUR; KOÇ, AHMET; EKER, NURŞAH; Eker N., Tas B. T., Doğru Ö., Senay E., Tokuç A. G., Koç A.Autologous hematopoietic stem cell transplantation (AHSCT) is an increasingly used curative treatment for some solid tumors in children. Instead of allogeneic transplantation, the risk of developing graft-versus-host disease (GvHD) is much lower after AHSCT. Although the clinical findings of auto-GVHD are mild and self-limited in most cases, rare cases may be severe and need intensive immunosuppressive treatment. Here, we present a case who underwent autologous HSCT due to relapsed neuroblastoma, developed steroid-refractory GvHD after AHSCT, and achieved remission using ruxolitinib. A 12 years old female patient was diagnosed with relapsed neuroblastoma. After metaiodobenzylguanidine treatment, AHSCT was performed, and the status of the disease was a very good partial response at the time of transplantation. Our patient was diagnosed with severe and steroid-refractory GvHD with skin involvement after AHSCT. We used ruxolitinib with extracorporeal photopheresis because of the essential side effects of the other drugs and got a very good response. Over the following five months, there was no recurrence of GvHD. She was in complete remission of neuroblastoma after two years of AHSCT. It is crucial to keep in mind that GvHD may develop after AHSCT. Ruxolitinib is an effective treatment for GvHD also after AHSCT. Further studies and case reports are needed to understand the disease\"s pathogenesis and regulate appropriate treatment.