克隆性造血对肿瘤体细胞突变检测的影响

克隆性造血（clonal hematopoiesis，CH）突变是造血干细胞（hematopoietic stem cell，HSC）携带的突变，是年龄和外在环境（吸烟、放化疗等）共同作用的结果。随着肿瘤基因研究的进展，基因检测已成为实体瘤患者全病程管理中一个重要的环节。目前CH在实体瘤中的价值越来越受到关注。将围绕CH的检出，详细阐述实体瘤患者组织样本及循环肿瘤DNA （circulating tumor DNA，ctDNA）样本中CH的检测方法，探讨CH对肿瘤体细胞突变检测的影响和挑战。     

Lacosamide for children with paroxysmal kinesigenic dyskinesia

ObjectivesThis study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children.MethodsWe retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, proline-rich transmembrane protein 2 (PRRT2) gene variant, clinical features of PKD, dose of LCM, efficacy, and adverse events were recorded.ResultsFour eligible patients (3 males, 1 female) were identified, with an age of onset ranging from 8.3 to 14.7 years. PRRT2 variant was evaluated in three children and a c.649dupC variant was identified in one child with a positive family history. Attacks were bilateral in three children and left-sided in one. Two children had a family history of PKD and one child had a family history of benign infantile epilepsy. Treatment with carbamazepine failed in two children due to drowsiness and auditory disturbance. The initial dose of LCM was 50 mg/day in three children and 100 mg/day in one. All patients were attack-free within a few days. The maintenance dose was mostly similar to the initial dose. No adverse events related to LCM were reported during follow-up.ConclusionsLCM is an effective and well-tolerated treatment for PKD in children, and low-dose treatment may be viable.     

基于单中心的恶性肿瘤患者合并心血管及代谢疾病的调查

目的:探讨恶性肿瘤、心血管病变和代谢疾病三者之间的关联。方法:搜索2018年9月1日至2018年10月31日期间在复旦大学附属中山医院心脏超声诊断科进行心脏超声心动图检查的患者，根据病史资料统计恶性肿瘤患者例数，并分析其合并心脏疾病和代谢疾病情况。结果:搜索行心脏超声心动图检查的患者共计26 698例，其中经病理检查或经影像学检查明确证实的恶性肿瘤患者1 992例，男性1 084例，女性908例，平均年龄（62.62±11.42）岁。左室射血分数平均值为（65.35±4.94）%。合并心脏疾病共220例，占11.04%。合并代谢疾病共1 052例，占52.81%。结论:恶性肿瘤患者在心脏超声心动图检查的患者中比例较高，合并心脏疾病、代谢疾病情况也不在少数；恶性肿瘤及相关治疗既能造成心脏疾病的发生又可导致代谢疾病的出现，故需对恶性肿瘤患者进行早期预防和干预治疗，以减少心脏疾病和代谢疾病的发生或加重。     

Tailored prophylaxis in children with severe hemophilia: A four-year Iranian study

BackgroundProphylaxis the current standard care for patients with severe hemophilia should be planned to optimize the replacement therapy and minimize bleeding. We report our single-center experience of tailored prophylaxis in children affected by hemophilia A (HA) and hemophilia B (HB).MethodsThis study was conducted on 55 patients, under 15 years, with HA (PWHA, n: 46) and HB (PWHB, n: 9) between 2015 and 2019. According to the phenotype, three prophylaxis regimens: 25−50 unit/kg once, twice, or three-times a week for PWHA, and two: 30−50 unit/kg once or twice a week for PWHB were administered. Following the occurrence of > 3 joint bleeding, or > 4 soft tissue bleeding, or one spontaneous major bleeding in the last 3 months, the prophylaxis regimen is changed. Annualized bleeding rate (ABR), annualized joint bleeding rate (AJBR), target joints development, inhibitor development, and hemophilia joint health score (HJHS) also were assessed.ResultsA mean ± SD of 2520 ± 1045 IU/kg/yr coagulation factor (F) VIII was used to reduce ABR and AJBR from 1.02 ± 1.11 and 0.8 ± 1.3 (in the first year of the study) to 0.27 ± 0.44 (P < 0.001) and 0.19 ± 0.38 (P = 0.004) (at the end of the study) in PWHA, respectively. Furthermore, in PWHB, in the first year of the study, with using 2168 ± 1216 IU/kg coagulation FIX, ABR and AJBR were 0.19 ± 0.39 and 0.06 ± 0.1. At the end of the study, ABR and AJBR were 0.02 ± 0.05 (p = 0.156) and 0.01 ± 0.03 (p = 0.361), respectively. During the study period, the mean number of the target joints and mean HJHS were 0.25 ± 0.57 and 7.6 ± 2.1 for PWHA and 0 and 6.3 ± 1.8 for PWHB, respectively.Finally, 5 PWHA (11 %) did not need dose-escalation in their prophylaxis regimen, whereas 31 (67 %) and 10 (21 %) PWHA needed two and three infusions a week, respectively. In PWHB, 7 (78 %) and 2 (22 %) were adjusted to receive a once and twice weekly regimen, respectively.ConclusionOur results suggest that tailored prophylaxis is an effective strategy to reduce the rate of bleeding and optimize the replacement therapy in children with hemophilia.     

新式带锁抢救车的设计与临床应用

目的:探讨新设计的新式带锁抢救车的临床应用价值。方法:设计一种带状态开关锁的新式带锁抢救车,并与传统开放式抢救车比较药品和物品合格率、护士清点和交接抢救车的耗时的差异。结果:新式带锁抢救车与传统开放式抢救车相比,药品合格率由90.42%提升至100%(P0.01),物品合格率由94.98%提升至100%(P0.05),护士每月平均清点时间由(34.88±1.95) h降至(4.92±1.03) h(P0.05),平均交接班时间由(16.00±0.77) min降至(2.00±0.17) min(P0.05)。结论:新式带锁抢救车便于管理、省时省力、安全便捷,可有效保障临床抢救,具有良好的应用推广价值。