Impact of CALR and JAK2V617F Mutations on Clinical Course and Disease Outcomes in Essential Thrombocythemia: A Multicenter Retrospective Study in Turkish Patients.

Objective: In this study, we investigated the effects of calreticulin (CALR) and JAK2V617F mutational status on clinical course and disease outcomes in Turkish patients with essential thrombocythemia (ET). Materials and Methods: Seventeen centers from Türkiye participated in the study and CALR- and JAK2V617F-mutated ET patients were evaluated retrospectively. Results: A total of 302 patients were included, of whom 203 (67.2%) and 99 (32.8%) were JAK2V617F- and CALR-positive, respectively. CALR-mutated patients were significantly younger (51 years vs. 57.5 years, p=0.03), with higher median platelet counts (987x109/L vs. 709x109/L, p<0.001) and lower median hemoglobin levels (13.1 g/dL vs. 14.1 g/dL, p<0.001) compared to JAK2V617F-mutated patients. Thromboembolic events (TEEs) occurred in 54 patients (17.9%), 77.8% of which were arterial. Compared to CALR mutation, JAK2V617F was associated with a higher risk of thrombosis (8.1% vs. 22.7%, p=0.002). Rates of transformation to myelofibrosis (MF) and leukemia were 4% and 0.7%, respectively, and these rates were comparable between JAK2V617F- and CALR-mutated cases. The estimated overall survival (OS) and MF-free survival of the entire cohort were 265.1 months and 235.7 months, respectively. OS and MF-free survival durations were similar between JAK2V617F- and CALR-mutated patients. Thrombosis-free survival (TFS) was superior in CALR-mutated patients compared to JAK2V617F-positive patients (5-year TFS: 90% vs. 71%, respectively; p=0.001). Age at diagnosis was an independent factor affecting the incidence of TEEs. Conclusion: In our ET cohort, CALR mutations resulted in higher platelet counts and lower hemoglobin levels than JAK2V617F and were associated with younger age at diagnosis. JAK2V617F was strongly associated with thrombosis and worse TFS. Hydroxyurea was the most preferred cytoreductive agent for patients with high thrombosis risk.

Sexual Dysfunction Is Associated with Depression and Anxiety in Patients with Predialytic Chronic Kidney Disease.

OBJECTIVE: We aimed to determine the prevalence of sexual dysfunction and clarify the relationship between sexual dysfunction and depressive mood state, drugs, and disease activities in patients with predialytic chronic kidney disease (CKD). MATERIALS AND METHODS: In total, 150 patients with CKD who had an estimated glomerular filtration rate of 15-60 mL/min were included; 65 healthy controls were selected. A detailed medical and sexual medical history was taken from individuals in the control and patient groups by applying the Golombok-Rust Inventory of Sexual Satisfaction and Hospital Anxiety and Depression Scale. RESULTS: Sexual frequency (p=0.027), impotence (p<0.001), and premature ejaculation scores (p<0.001) in male patients and sexual frequency (p=0.004), communication (p=0.004),, satisfaction (p<0.001), avoidance (p=0.008), orgasmic dysfunction (p<0.001), sensuality (p=0.002), and total sexual dysfunction scores (p<0.001) in female patients with CKD were found to be higher compared with the control group. In female patients, the depression scores of patients with stage 3 CKD were found to be higher than those of patients with stage 4 CKD (p=0.028). The avoidance scores of male patients with depression (p=0.006) were high. In contrast, the communication score of female patients with depression was high (p=0.004). It has been detected that the factors that affect the sexual dysfunction score of patients with CKD in males are age (p=0.006), hypertension (p=0.008), anxiety (p=0.003), and depression (p=0.002) and those in female patients are age (p=0.034), anxiety (p<0.001), and depression (p=0.001). CONCLUSION: Patients with predialytic CKD substantially have sexual dysfunction. The most important factors that affect sexual dysfunction are age, hypertension, anxiety, and depression.