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Amaç: Bu çalışmanın amacı, bcr-abl negatif kronik miyeloproliferatif hastalık tanısı alan hastaların tanı anında JAK2 V617F, kalretikulin (CALR tip-1 ve tip-2) ve MPL-W515K / L mutasyonların sıklığını ve bu mutasyonların klinik önemini tartışmaktır.Gereç ve Yöntem: Bu çalışmada, Temmuz 2017-Mart 2019 tarihleri arasında BCR-ABL negatif kronik miyeloproliferatif hastalık tanısı alan hastaların demografik özellikleri, tanı alt tipi, risk durumu ve mutasyon analizi araştırılmıştır.Bulgular: JAK2-V617F mutasyonu 18‘i (% 85,7) polistemia vera (PV) ve geri kalanı (N = 9, %56,2) esansiyel trombositoz (ET) tanısı alan toplam 27 hastada saptandı. ET tanısı konmuş JAK2 V617F negatif 4 (% 57,1) hastada kalretikulin mutasyonu saptandı. Üç hastada CALR-tip 1 mutasyon ve 1 hastada CALR-tip 2 mutasyon tespit edildi. ET tanısı alan hastaların hiçbirinde MPL-W515K / L saptanmadı. Trombotik olay PV' li hastaların % 12,6'sı ve ET' li hastaların% 6,25'i olarak tespit edildi. Hastaların 14'ünde (% 37,8) splenomegali saptandı. Sonuç: Kronik myeloproliferatif hastalıkların patogenezi, sınıflandırılması ve risk grupları son yıllarda bazı genetik mutasyonların tanımlanması ile iyi karakterize edilmiştir. JAK2 V617F, CALR ve MPL kronik myeloproliferatif hastalıkların patogenezinde, hastalığın tanı, risk sınıflandırması, takipte önemli olan ve kişiselleştirilmiş tıpta önem kazanan aynı zamanda en sık tanımlanan somatik mutasyonlardır.

Reaction of urethanes with chlorocatecholborane, in the presence of triethylamine, produces isocyanates in excellent yield. This simple and highly selective one-pot reaction prevents the formation of side products. Alkylurethanes efficiently form isocyanates is nonpolar solvents. Formation of amines from urethane in the absence of triethylamine reveals the necessity of triethylamine to effect dehydrochlorination from urethane and chlorocatecholborane.

Purpose: The purpose of this study is to investigate the change of anterior chamber angle morphology after cataract surgery in patients with type 2 diabetes mellitus (DM2) using anterior segment optical coherence tomography (AS-OCT). Methods: In this prospective and comparative study, 57 eyes of the patients with cataract were investigated. The patients were divided into two groups. The DM2 group included cataractous type 2 diabetic patients without diabetic retinopathy ( n = 30) and the non-DM2 group included nondiabetic participants with cataract ( n = 27). The AS-OCT examinations were performed at baseline and 1 month after the cataract surgery. The corrected distance visual acuity (CDVA), intraocular pressure (IOP), angle-opening distance at 500 µm (AOD-500) and trabecular iris space area at 500 µm (TISA-500), and scleral spur angle (SSA) in temporal quadrant were analyzed. Results: The mean age, sex, and axial length values were similar in both groups ( p > 0.05 for all). The CDVA was significantly improved in both groups ( p 0.05 for all). Conclusion: Cataract surgery showed significant increases in mean anterior chamber angle parameters and reductions in IOP values in both diabetic and nondiabetic patients without intergroup significant differences. These results suggested the safety and effectiveness of cataract surgery, especially regarding anterior chamber angle parameters and so IOP changes.

We present a newborn diagnosed with Beckwith-Wiedemann syndrome and hypoglycemia, and developed pulmonary hypertension due to initiated diazoxide treatment because of these indications. Beckwith-Wiedemann syndrome was considered due to abdominal wall defect, macrosomia, macroglossia and hypoglycemia in a 34 week newborn with respiratory distress, hypoglycemia and syndromic appearance. Blood glucose level was measured as 1 mg/dL. Oral feeding, glucose infusion, prednisolone and then diazoxide treatment were started. At the first admission transthoracic echocardiographic examination, ventricular and atrial septal defects were detected. Control echocardiography performed under diazoxide treatment, showed development of enlarged right heart chambers, severe tricuspid regurgitation, and pulmonary hypertension. The development of pulmonary hypertension was thought to be related to diazoxide treatment. Diazoxide was discontinued after the patient became normoglycemic during follow--up period. Subsequently performed echocardiography revealed that the systolic pulmonary artery pressure regressed to 20 mmHg, and cardiac chambers returned to their physiologic balance. The patient without any problem during monitorization was discharged with the recommendation to attend further controls visits. In this case report, it was aimed to be reminded that pulmonary hypertension can develop due to diazoxide treatment, and it can regress with discontinuation of diazoxide. Besides, transthoracic ECHO should be performed to check for the development of pulmonary hypertension in newborns treated with diazoxide.