目的 探讨FLT3-ITD突变与附加染色体核型对急性早幼粒细胞白血病(APL)患者预后的影响.方法回顾性分析2012年1月～2021年3月安徽医科大学第二附属医院新诊断为APL的患者112例,收集患者临床和实验室资料,根据危险度分层选择治疗方案,通过电话或查看门诊或住院病历来完成随访总生存(OS).结果 APL患者合并FLT3-ITD基因突变28例(25.0％),有附加染色体核型患者19例(16.9％),早期死亡(ED)9例(8.0％).有无FLT3-ITD突变患者完全缓解率(CR)差异无统计学意义(P＞0.05);ED及高危分层无明显相关性(P＞0.05).有无附加染色体核型患者CR率差异无统计学意义(P＞0.05),与ED及高危分层无明显相关性(P＞0.05).中位随访68.5(0.1～108.0)月,总体生存率80.4％,有无高危FLT3-ITD突变的生存率差异无统计学意义(P＞0.05).有无附加染色体核型患者的生存率分别为78.9％、80.6％(P＞0.05).结论 FLT3-ITD突变与附加染色体核型对APL患者长期生存没有影响.

目的 探讨髓外病变(extramedullary diseases,EMD)和调节T细胞(regulatory T cells,Tregs)对靶向B细胞成熟抗原(B cell mature antigens,BCMA)的嵌合抗原受体T细胞(chimeric antigen receptor T cells,CAR-T)治疗多发性骨髓瘤(relapsed/refractory multiple myeloma,RRMM)疗效的影响.方法 选取2019年6月至2021年9月于安徽医科大学第二附属医院血液科、安徽医科大学第一附属医院血液科、中国科学技术大学附属第一医院血液科接受BCMA-CAR-T治疗的24例RRMM患者为研究对象,输注BCMA-CAR-T细胞后观察和监测治疗反应和毒性;比较有无EMD以及Tregs水平高低组患者的总体缓解率(overall remission rate,ORR)、持续缓解时间(duration of response,DOR)、无复发生存期(relapse-free survival,RFS)和总生存期(overall survival,OS).结果 RRMM患者输注BCMA-CAR-T细胞2个月内,ORR为87.5％,其中无EMD患者的ORR优于EMD患者(P=0.038),Tregs水平高低不影响患者的ORR(P=0.876);EMD及Tregs水平异常增高均降低患者的中位DOR(P=0.004,0.001).EMD患者的OS率和RFS率均低于无EMD患者(60.0％vs 84.2％,P=0.013;40.0％vs 57.9％,P=0.007).Tregs水平异常增高患者的OS率与Tregs水平正常或较低患者比较差异无统计学意义(P=0.077),但RFS率明显降低(40.0％vs 77.8％,P=0.011).单因素Cox回归分析结果显示,有EMD患者的OS和RFS均较无EMD患者短(HR=8.465,95％CI:1.150～62.315,P=0.036;HR=5.569,95％CI:1.332～23.285,P=0.019),Tregs水平异常增高患者的RFS也较Tregs水平正常或较低患者短(HR=8.806,95％CI:1.088～71.282,P=0.017).有无EMD组及Tregs水平高低组患者在BCMA-CAR-T细胞治疗中总体不良事件的发生率差异无统计学意义(均P>0.05).结论 有EMD的RRMM患者,BCMA-CAR T细胞治疗疗效及生存均较无EMD患者差,异常Tregs可能是其复发的根源之一.

目的 探讨SENEX基因对急性髓细胞性白血病(acute myeloid leukemia,AML)细胞增殖和凋亡的影响.方法 选取20例成人初诊AML患者,5例复发AML,17例完全缓解AML以及7例对照的骨髓标本,qPCR检测SENEX基因的表达水平,流式细胞术检测细胞凋亡,CCK8检测细胞增殖.结果 (1)SENEX基因在初诊及复发AML中表达水平升高,且和疾病状态相关;(2)干扰SENEX基因后,NB4细胞的细胞增殖效率下降,凋亡比例上升;(3)IL-35可减弱阿糖胞苷诱导的NB4细胞凋亡比例及SENEX基因上升趋势.结论 SENEX基因可通过直接促进AML细胞增殖和抑制AML细胞的凋亡来参与AML的发生发展.

目的:提高对青少年GATA2缺陷继发骨髓增生异常综合征(MDS)疾病的认识.方法:回顾性分析我院收治的1例青少年GATA2缺陷继发MDS患者的诊疗过程,并结合相关文献进行复习总结.结果:患者男,17岁,2018年6月于我科诊断为MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危),继发骨髓纤维化.完善血液遗传全外显子基因检查提示患者GATA2基因突变.修正诊断为GATA2缺陷综合征、继发MDS(MDS-EB-I,IPSS中危-1;WPSS高危;IPSS-R高危)、继发骨髓纤维化.完善患者姐姐血常规检查提示白细胞轻度减少,检查患者姐姐GATA2基因检测到GATA2基因错义突变.患者治疗期间反复出现多部位感染.进一步检查患者父母GATA2基因提示患者父亲GATA2基因存在错义突变.患者GATA2基因突变系父系遗传.结论:对于青少年MDS患者,应对其进行血液遗传学全外显子基因检查以确认其有无先天性疾病;对于存在先天性基因突变的患者,建议行家系筛查,并尽早行造血干细胞移植治疗.

目的 探讨不同给药方式对晚期前列腺癌内分泌治疗(亮丙瑞林微球联合抗雄激素药物)的影响.方法 选取安徽医科大学第三附属医院2018年1月至2019年4月收治的晚期前列腺癌患者34例,根据给药方式不同,分为持续性给药组(对照组)和间歇性给药组(观察组)各17例.观察比较1年内两组患者疗效、不良反应及各时间点前列腺特异性抗原(PSA)水平.结果 治疗后观察组总缓解率高于对照组(P<0.05);两组不良反应发生率差异无统计学意义(P>0.05).两组治疗后各个时间点(3,6,9,12月)PSA水平均显著低于治疗前(P<0.05),以及各时间点对照组PSA水平明显高于观察组(P<0.05);结论亮丙瑞林微球联合抗雄激素药物的两种给药方式均能明显降低晚期前列腺癌患者的血清PSA,而间歇性给药的临床疗效明显优于持续性给药,且安全性好.

目的:通过改进原代培养方法,从大面积脑梗塞患者废弃脑组织中培养、传代和鉴定自体神经干细胞(NSCs),并进行诱导分化研究.方法:收集2例右侧大面积脑梗塞患者手术中废弃脑组织各1 g以上,按改良方法进行原代培养并传代,通过细胞免疫荧光染色检测NSCs标志物巢蛋白(nestin)的表达.传代培养至7代时选取部分细胞进行诱导分化研究,通过细胞免疫荧光染色检测胶质纤维酸性蛋白(GFAP)和微管蛋白(β-tu-bulin)的表达来评估NSCs分化情况.结果:培养3～7d后,2例患者废弃脑组织中均可见干细胞球生长,nestin检测呈阳性表达.经传代培养至第10代后,仍可维持其神经干细胞特征,选取7代贴壁细胞经β-Tubulin及GFAP免疫荧光检测可见阳性表达.结论:成功从大面积脑梗塞患者前颞叶(邻近于海马区)废弃脑组织中分离培养获得自体NSCs,并可向神经元样细胞及星形胶质样细胞分化.

目的探讨前外侧腹膜后入路切除椎管内外沟通性巨大哑铃型肿瘤的诊疗经验.方法回顾性分析采用前外侧腹膜后入路一期手术切除的1例腰椎管巨大哑铃型肿瘤的临床资料.先由骨科医生根据C型臂透视定位,从左侧12肋后部向脐行倒八字切口手术,显露肿瘤的椎管外部分并切除;然后,由神经外科医生在显微镜下将椎管内肿瘤切除.结果术后MRI检查示肿瘤完全切除.术后病理证实为神经鞘瘤.术后3个月随访,恢复良好,术前症状完全消失;复查MRI示椎管内无强化影像.结论多学科联合,前外侧腹膜后入路一期手术切除腰椎椎管内外沟通性巨大哑铃型良性肿瘤,可取得较好的效果.

Objective:To provide the preclinical platform for stereotactic autologous neural stem cells(NSCs)transplantation to treat the sequela of encephalorrhagia,cerebral infarction and craniocerebral injury.Methods:The abandoned brain tissues from different areas were collected during open cranial surgery.Above 500 mg abandoned brain tissues in each case were primarily cultured by the modified methods and handed from generation to generation.The expression of Nestin(the marker of NSCs)was detected by immunofluorescence cytochemistry.The induced differentiation began from the 5th generation.Results:About 3 to 10 days after inoculation,stem cells sphere growth was observed in most cases.All the stem cell spheres were positive for Nestin.The 6th generation cells were collected for immunofluorescence cytochemistry with β-Tubulin(the marker of neuron),Sox10(the marker of oligodendrocyte)and GFAP(the marker of astrocyte)respectively,in which a few of the adherent cells were found to be positive as neurons,oligodendrocytes and astrocytes.The Western blotting was performed to 3rd and 6th generation cells.In 3th generation,only Nestin and a few of β-Tubulin were positive.However,in the 6th generation,the Nestin,Sox10,β-Tubulin and GFAP were all found positive on different levels.Conclusion:This study successfully obtains adult NSCs from the abandoned brain tissues in different regions during open cranial surgery and the autologous NSCs could be differentiated into neurons and gliocytes.It is possible for stereotactic autologous NSCs transplantation to repair the neural function from laboratory to clinical applications.

目的 探讨老年重症患者伏立康唑血药谷浓度(Cmin)监测的重要性.方法 回顾性分析2014年1月～2018年12月安徽医科大学附属第三医院收治的老年危重症患者43例,所有患者使用伏立康唑治疗,监测并观察伏立康唑Cmin.比较不同因素对伏立康唑Cmin的影响及血浆白蛋白(ALB)水平对伏立康唑的临床效果及不良反应发生情况.结果 Cmin共测试78次,其中54次(69.2％)Cmin为1.0～5.5 mg/L.ALB及AST是影响伏立康唑Cmin的独立危险因素,ALB与Cmin呈负相关(r=-0.903,P=0.0003);AST与Cmin呈正相关(r=0.872,P=0.0005).ALB＜35 g/L患者有效率低于ALB≥35 g/L,不良反应发生率高于ALB≥35 g/L,差异有统计学意义(P＜0.05).结论 影响老年重症患者伏立康唑血药谷浓度因素众多,对伏立康唑的血药浓度监测尤为必要.

目的 测量睿米神经外科医疗机器人辅助下行无框架立体定向手术的精度.方法 回顾性分析26例在睿米神经外科医疗机器人引导下行无框架立体定向手术的病例资料,其中活检术10例,电极植入及(癎)灶毁损术9例,血肿置管引流术7例.根据穿刺器械刚性程度分为活检毁损组(靶点14个)、电极植入组(靶点13个)与置管引流组(靶点9个).通过术前计划影像资料与术后影像资料融合,测量实际靶点与规划靶点之间的三维空间距离.结果 活检毁损组精度误差为(1.330±0.566)mm,电极植入组精度误差(2.404±0.878)mm,置管引流组(6.188±4.103)mm.与电极植入组以及置管引流组比较,活检毁损组精度误差较小,差异均具有统计学意义(均P<0.05);电极植入组与置管引流组比较,差异无统计学意义(P>0.05).结论 电极与引流管均为软性材质,入颅后漂移移位导致定位误差增大.活检针与毁损电极均为刚性材质,不易移位,可真实反映睿米定位精度.

Objective To determine the clinical outcomes of a Meige syndrome patient undergoing deep brain stimulation (DBS) with domestic stimulator and bilateral different frequency stimulation program. Methods The clinical data of 1 patient with Meige syndrome undergoing bilateral globus pallidus internus (Gpi) DBS operation was analyzed retrospectively. The routine stimulation was performed 1 month after the operation and different frequency stimulation was administrated 3 months postoperatively. Burke-Fahn-Marsden dystonia rating scale (BFMDRS) was used to evaluate the clinical outcome. Results The symptoms of the patient were significantly improved by the stimulation 1 month after the operation. The BFMDRS declined from 22 to 6. Since the right electrode contacts were near the posterior limb of the internal capsule, the voltage of stimulation was low and the patient felt numb of left limbs. The effect was obtained by increasing the voltage of the left electrode. The symptoms recurred a little 3 months after the operation and the BFMDRS was recovered to 10. The different frequency stimulations in the left and right sides were administrated with decrease of the stimulation frequency in the right side. The stimulation voltage in the right side was increased to improve the symptoms and in the left side was decreased in order to reduce the power consumption. The numb of left limbs disappeared and the symptoms further improved. BFMDRS was decreased to 4. Conclusions DBS with domestic stimulator at bilateral Gpi is satisfactory for the treatment ofMeige syndrome and different frequency stimulations in the left and right sides can decrease the side effect and increase the treatment effect further.

背景:对胎儿、胎鼠及成鼠神经干细胞培养已有大量研究,但成体人自体神经干细胞培养相关研究较少。目的:通过改进原代培养方法,从颅内动脉瘤破裂脑出血患者血肿腔周边废弃脑组织中培养和鉴定神经干细胞,并进行冻存与复苏研究,建立成人自体神经干细胞库。方法:收集3例动脉瘤破裂脑出血（2例大脑中动脉瘤及1例前交通动脉瘤）手术中血肿腔周边的废弃脑组织各约500 mg以上,采用细小组织块接种法进行原代无血清悬浮培养成人自体神经干细胞,倒置显微镜下观察细胞生长情况,免疫荧光细胞化学技术检测神经干细胞标志物巢蛋白（Nestin）的表达。培养获得的神经干细胞球以体积分数4%胎牛血清诱导其贴壁生长,待细胞增殖达到一定数量后传代培养。传代后部分细胞予以冻存建库,并复苏继续传代及诱导分化培养。体积分数10%胎牛血清诱导神经干细胞分化,通过免疫荧光细胞化学技术检测胶质纤维酸性蛋白（标记星形胶质样细胞）,β-tubulinⅢ（标记神经元样细胞）,SOX10（标记少突胶质样细胞）蛋白的表达来测定神经干细胞的分化能力。结果与结论:改进培养方法后,3例患者废弃脑组织中,在无血清培养液中均可形成Nestin阳性表达的神经球,并可在体外大量扩增和连续传代。在给予体积分数10%FBS条件下神经球可分化为神经元样细胞、少突胶质细胞及星形胶质细胞,即β-tubulin Ⅲ,SOX10及胶质纤维酸性蛋白阳性表达。经传代培养至5代后,仍呈Nestin阳性即可维持其神经干细胞特征。冻存细胞复苏后生长状态良好且呈Nestin阳性,可继续传代扩增。结果表明,从动脉瘤破裂脑出血患者不同脑区（颞极及额底）血肿腔周边废弃脑组织中可成功培养获得自体神经干细胞,并可向神经元样细胞、少突胶质样细胞及星形胶质样细胞分化,使自体神经干细胞移植促进神经功能修复从实验室到临床应用成为可能。

Objective To evaluate the surgical procedure and clinical value for hypertensive intracerebral hemorrhage (HICH) with frameless stereotactic Technique.Methods 17 cases of HICH were treated with frameless Stereotactic instrument and using minimal invasive puncture needle to smash and drain the hematoma.Treatment outcome,mortality rate as well as long-term prognosis (ADL score) were analyzed retrospectively.Results Using frameless Stereotactic instrument can accurately guide the completion of intracerebral hemorrhage puncture and no mortality during the follow-up period.The average drainage time was 3.4 days.The head CT scans before the needle extraction suggested hematoma clearance range was about 70％ ～900 with the space occupying effect significantly reduced.The neural function and long-term quality of life were improved after 3 month post surgery.Conclusion Frameless stereotactic hematoma aspiration is a timely,safety and effective treatment method that can be well applied to some HICH patients,getting a better improving of nerve function better and prognosis.Especially,it could be recommended for patients with advanced age or deep bleeding site that are not suitable for craniotomy,expanding the range of indications for surgery.

Objective To evaluate the fluid distribution in patients on maintenance hemodialysis(MHD)by the whole-body bioimpedanc spectroscopy and investigate its effect on blood pressure in MHD patients. Methods A total of 64 patients with stable MHD for more than 3 months were enrolled in this study. Based on inter-dialysis blood pressure control,they were divided into ideal blood pressure group(41 cases)and refractory hypertension group(23 cases). Preand post-dialysis intracellular water(ICW)and extracellular water(ECW)were measured by whole-body multifrequency bioimpedance spectroscopy,and standardized by body weight to produce ICW% and ECW% . 64 normal individuals of matched sex,age and body weight were used as controls. Results The pre-HD ECW% was significantly higher than those of normal controls(P < 0. 01). Patients with MHD had higher pre- and post-dialysis ECW% values than those without hypertension. Conclusion MHD patients have higher pre-dialysis ECW% . MHD patients with hypertension are significantly higher than the ideal blood pressure control group.

Objective:To evaluate the masticatory efficiency of fixed denture restoration mandibular first molar hemisec-tion. Methods:Twenty-six patients with mandibular first molar hemisection were treated with fixed dentures,and masticato-ry efficiency was assessed after using dentures for 1 months. The masticatory efficiency of the affected side teeth before res-toration and unaffected side served as the comparison. Results:Compared with affected teeth before restoration,the masti-catory efficiency after dentures for 1 month by affected teeth was significantly improved(P ﹤ 0. 01),and was similar to that of the unaffected teeth(P ﹥ 0. 05). Conclusion:The patients with tooth hemisection for fixed dentures have good masticato-ry function.

Objective To investigate the relationship between the occurrence and severity of diabetic retinopathy(DR) and the occurrence and severity of diabetic macular edema(DME).Method Ten cases(10 eyes) of diabetic retinopathy complicated with macular edema that were diagnosed jointly by endocrinologists and ophthalmologists were enrolled in this study.Recruitment criteria included history of diabetes confirmed by endocrinologists,central visual acuity,intraocular pressure,and established diagnosis of diabetic retinopathy and macular edema with the Results of direct ophthalmoscope and slit lamp joint front mirror fundus examination,dilated fundus photography,optical coherence tomography technique(OCT),and sodium fluorescein angiography(FFA).A careful staging of DR and DME followed detailed history and ophthalmic examination for each patient.The relationship between diabetic retinopathy and diabetic macular edema were analyzed.Results We found that diabetic macular edema presented in all stages of the diabetic retinopathy,but the degree of macular edema was not related to the severity of DR.Conclusion Diabetic macular edema can occur in any stage of the diabetic retinopathy and its severity is not linked to the severity of DR.But the case number in this study is small and there were some limitations as well.Further studies are needed to reveal the real relationship between DR and DME.

Temporomandibular joint condylar idiopathic absorption(ICR) is a poorly understood progressive disease that affects an open bite,mandibular retraction which cause facial disfigurement.Current studies found that adolescent women tended to develop ICR with lower estrogen level or oral contraceptive history.However,so far it still can not explain the phenomenon why patients did not have systemic bone diseases like osteoporosis but specific absorption occured only in the condyle.This article reviewed the current studies on condylar absorption.

目的 探讨系统性红斑狼疮(SLE)合并脊柱结核的诊断及内科治疗效果.方法 对2例SLE合并脊柱结核患者临床资料进行回顾性分析.结果 例1患者在正规抗结核4个月后局部神经压迫症状消失,疼痛明显改善.例2患者在抗结核治疗3个月后局部疼痛较入院时也明显减轻,同时MRI提示病灶明显减小.血沉及C反应蛋白均明显减低.2例患者在抗痨治疗过程中均无狼疮活动.结论 正规抗结核联合激素及免疫抑制剂治疗SLE合并脊柱结核,不仅可以控制结核使其病灶减小,而且可以控制狼疮活动,同时避免了外科手术这一创伤.

Objective To investigate the treatment of systemic lupus erythematosus(SLE) associated with tuberculous spondylitis by medical treatmentand and review the literature.Methods Two female patients with SLE associated with tuberculosis of the spine were retrospectively analyzed.Results After medical treatment for 4 months of the first patient,the numbness and weakness of both legs disappeared,and the back pain was obviously improved.For the second patient,after medical treatment for 3 months,the back pain was improved,and the MRI revealed the focus of infection was diminishing.Conclusion High dose of corticosteroids are implicated as a risk factor for infection in SLE patients.Early diagnosis and appropriate anti-tuberculosis treatment combined with prednisone and immunosuppression is beneficial in preventing the diffusion of SLE associated with tuberculous spondylitis and avoid surgical operation injury at the same time.