Person: TRUE, ÖMER
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TRUE
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ÖMER
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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 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 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 Griscelli Sendromuna Bağlı Gelişen Refrakter Hemofagositik Lenfohistiosiz Tedavisinde Ruksolitinib’in Yeri(2023-05-26) KOÇ, AHMET; TRUE, ÖMER; AYDINER, ELİF; Şenay R. E., Koç A., Doğru Ö., Dinç O., Aydıner E.