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Hemophilia B is a genetic disorder caused by coagulation factor Ⅸ(FⅨ) deficiency, mainly manifesting as joint, muscle and deep tissue bleeding. Hemophilia pseudotumor is a mass formed by soft tissue liquefaction and necrosis caused by repeated bleeding. Most pseudotumors occur in the bone and muscle. We report a case of hemophilia B with pseudotumor formation in the pelvis and abdomen, where lesion location is relatively rare. After active and effective hemostasis, the patient's hematuria symptom gradually improved. This case suggests that early and timely hemostatic treatment is crucial for patients with hemophilia.
RESUMO
Objective@#To analyze the gene mutation spectrum, clinical features, and the factors of disease progression and prognosis in patients with essential thrombocytosis (ET) .@*Methods@#A retrospective analysis was conducted on 178 newly diagnosed ET patients admitted from February 1st, 2009 to November 1st, 2018.@*Results@#Of the 178 patients, 89 were male and 89 female, and the median diagnosis age was 49.5 (3-86) years old. JAK2V617F, CALR and MPL mutations frequencies were 16.45% (1.67%-43.90%) , 40.00% (10.00%-49.15%) and 25.10% (25.00%-40.00%) , respectively. Compared with patients with CALR mutations, patients with JAK2V617F mutation had higher diagnosis age (P=0.035) , higher white blood cell count (P=0.040) , higher hemoglobin concentration (P=0.001) , and lower platelet count (P=0.002) , respectively. Of them, 47 patients (27.01%) developed thrombotic events before diagnosis, and 3 ones (1.72%) experienced thrombotic events after diagnosis. Multivariate analysis revealed age >60 years (P=0.013, OR=4.595, 95%CI 1.382-15.282) and cardiovascular risk factors (CVF) (P<0.001, OR=8.873, 95%CI 2.921-26.955) as risk factors for thrombotic events, CALR mutation (P=0.032, OR=0.126, 95%CI 0.019-0.838) as a protective factor for thrombotic events. Age >60 years (P=0.042, OR=4.045, 95%CI 1.053-15.534) was found to be a risk factor for the overall survival (OS) of ET patients. OS of age ≤60 years and age>60 years were calculated by Kaplan-Meier analysis to be (115.231±1.899) months and (83.291±4.991) months (χ2=6.406, P=0.011) , respectively.@*Conclusion@#Age>60 years and CVF were risk factors for thrombotic event. CALR mutation was a protective factor for thrombotic event. Age >60 years was a risk factor for OS in ET patients.
RESUMO
Objective@#To investigate the value of platelet count in predicting the efficacy of rituximab treatment in chronic primary immune thrombocytopenia (ITP).@*Methods@#A retrospective study was conducted in 103 chronic ITP patients hospitalized in our medical center between January 2011 and December 2014. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) of platelet count in different time points were analyzed for the predictor of treatment response. Optimal cutoff values were established using ROC analysis.@*Results@#A total of 103 patients were included in the study. There were 46 males and 57 females, with a median age of 30 (18-67) years. At day 1, 3 and 7 after the first dose of rituximab, there was no significant difference in platelet counts between the success group (PLT≥50×109/L after treatment) and the failure group (PLT≤50×109/L after treatment) (P>0.05). At day 14 after rituximab treatment (PTD 14), platelet counts became significantly different in the success and failure groups[41(8-384)×109/L vs 23(0-106)×109/L, P=0.003], and remained different thereafter, with increasing significance in the subsequent follow-ups. Patients were divided further using an optimal cut-off platelet count of 50×109/L on PTD 14, PTD 30, and PTD 60, and PPV and NPV values were calculated for predicting eventual success and failure.@*Conclusion@#Response can be predicted by obtaining platelet counts at 14, 30 and 60 days after rituximab treatment. The study proposed a protocol that guides patient monitoring and management planning.