34例淋巴瘤骨髓浸润患者治疗与预后分析

目的 探讨淋巴瘤骨髓浸润患者的治疗与预后。方法 34例淋巴瘤骨髓浸润患者分为单纯化疗组、化疗+放疗组、大剂量化疗+自体干细胞移植组进行治疗,长期随访,分析其预后状况。结果 全组中位生存期为20个月;1年和3年生存率分别为76.47％和26.47％,最初疗效为完全缓解和部分缓解患者的1年和3年生存率均大于未缓解患者(P<0.05);大剂量化疗+自体干细胞移植组的3年生存率大于单纯化疗组和化疗+放疗组(P<0.05)。结论 淋巴瘤骨髓浸润患者的生存率与最初疗效有关;大剂量化疗+自体干细胞移植能提高其生存率,改善预后。     

自体造血干细胞移植可改善多发性骨髓瘤患者的临床状态

目的 探究蛋白酶体抑制剂和来那度胺治疗下,自体造血干细胞移植（ASCT）对初发多发性骨髓瘤（MM）患者缓解深度和生存的影响。方法 回顾性收集2015年1月~2019年12月在南方医科大学南方医院接受蛋白酶体抑制剂和或来那度胺治疗的初发及适合移植的MM患者临床资料,按照患者是否接受自体干细胞移植分为移植组及未移植组。移植组纳入接受4~6疗程蛋白酶体抑制剂和或来那度胺为基础的诱导治疗后序贯ASCT的患者,未移植组纳入仅接受8疗程以上的蛋白酶体抑制剂和或来那度胺为基础的诱导及巩固的患者,比较两组患者的治疗疗效及生存的差异。结果 总共105例患者纳入研究,移植组48例 （45.7%）、未移植组57例（54.3%）,两组患者在性别、年龄及4疗程诱导治疗后疗效等方面相似（P>0.05）。两组患者在首次复发前获得过的最佳缓解程度有统计学差异（P<0.001）,移植组获得完全缓解（85.4% vs 54.4%,P=0.001））和完全缓解+非常好的部分缓解（95.8% vs 73.7%,P=0.002）的比例高于未移植组;截止2020年12月31日末次随访时,移植组和未移植组的中位无进展生存期（PFS）分别为未达到和 29 月（P=0.013）,两组患者的中位总生存期（OS）均未达到,但移植组 OS 优于未移植组（P= 0.022）。结论 在新药时代,ASCT仍能进一步提高初发MM患者的缓解深度并改善患者的生存。     

自体造血干细胞移植治疗高危难治淋巴瘤生存分析

目的：探讨高危难治淋巴瘤患者自体外周血造血（APBSCT ）干细胞移植治疗后的预后与生存情况。方法回顾性分析该院110例高危难治淋巴瘤行APBSCT患者的随访资料,采用Kaplan‐Meier生存分析和Cox比例风险回归法分析影响患者APBSCT治疗后的生存及预后因素。结果110例患者中位生存时间39．4个月,移植后3年总生存（OS）率及无进展生存（PFS）率分别为80．9％和76．4％。移植前完全缓解（CR）状态（P＝0．016）、移植后巩固治疗（P＝0．006）的高危难治淋巴瘤APB‐SCT患者预后良好;而IPI评分大于2分、血清乳酸脱氢酶（LDH）偏高、骨髓浸润、乙型肝炎病毒（HBV）感染的高危难治淋巴瘤APBSCT患者预后差（P＜0．05）。结论高危难治淋巴瘤患者行APBSCT治疗可以提高远期生存率。     

Neurology. 4: Multiple sclerosis

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system (CNS) and a common cause of disability in young adults; it is most likely an autoimmune disease. Typically, MS initially follows a relapsing-remitting course, but most patients eventually develop secondary progressive MS, where there is progressive deterioration without relapses or remissions; in some patients, MS has a primary progressive course. The diagnosis of MS requires evidence of CNS lesions disseminated in time and place, as well as the exclusion of other likely causes of these lesions; the clinical history, neurological examination and investigations, such as magnetic resonance imaging of the brain and spinal cord, all have key roles in the diagnosis. Education and counselling of the patient and family members are essential for good patient management. Moderate to severe attacks of MS are best treated with intravenous infusions of high-dose methylprednisolone. Interferon beta reduces the frequency of attacks and the progression of disability in relapsing-remitting MS. Symptomatic therapy is important in the management of spasticity, pain, urinary problems and the other symptoms or complications of MS.     

IEAC或CEAC预处理方案用于淋巴瘤自体造血干细胞移植的疗效与安全性比较

目的 评价IEAC或CEAC方案预处理在自体造血干细胞移植（ASCT）治疗淋巴瘤的疗效与安全性。方法 回顾性分析了2013年~2018年在我院以IEAC方案（去甲氧柔红霉素+依托泊苷+阿糖胞苷+环磷酰胺）和CEAC方案（洛莫司汀+依托泊苷+阿糖胞苷+环磷酰胺）预处理后行ASCT的106例淋巴瘤患者资料,其中IEAC组43例,CEAC组63例患者,两组患者的临床特征无显著差异。通过对两组的造血重建时间、不良反应以及生存情况进行比较分析来评价预处理方案的疗效与安全性。此外,对可能影响生存的因素进行了单因素以及多因素的分析。结果 104例患者移植后造血重建,2例患者出现治疗相关死亡,两组的造血重建时间无显著差异。移植后中位随访27.4月（4.3~74.3月）,患者的5年无进展生存率和总生存率分别为72.9%和81.9%,主要的2级以上的不良反应为感染、口腔黏膜炎、恶心呕吐、肝功能损害、心脏毒性、低钾血症以及腹泻,两组的生存和不良反应无显著差异。T细胞淋巴瘤和移植前未获得完全缓解是无进展生存率（P值分别为0.015和0.007）和总生存率（P值分别为0.038和0.031）的危险因素,移植后3个月能获得完全缓解的患者可以获得更好的进展生存率（P=0.007）和总生存率（P=0.003）。结论 IEAC或CEAC预处理联合ASCT治疗淋巴瘤是安全有效的,可作为淋巴瘤ASCT预处理的备选方案。     

Ifosfamide,Cisplatin or Carboplatin,and Etoposide (ICE)-based Chemotherapy for Mobilization of Autologous Peripheral Blood Stem Cells in Patients with Lymphomas

Background:

High-dose chemotherapy followed by autologous stem cell transplantation (ASCT) is a promising approach for lymphomas. This study aimed to evaluate the effect of ifosfamide, cisplatin or carboplatin, and etoposide (ICE)-based regimen as a mobilization regimen on relapsed, refractory, or high-risk aggressive lymphoma.

Methods:

From June 2001 to May 2013, patients with lymphomas who mobilized by ICE-based regimen for ASCT were analyzed in this retrospective study. The results of the autologous peripheral blood stem cells collection, toxicity, engraftment after ICE-based mobilization regimen were analyzed in this study. Furthermore, risk factors for overall survival (OS) and progression free survival (PFS) were evaluated by univariate analysis.

Results:

The stem cells were mobilized using ICE-based regimen plus rituximab or ICE-based regimen alone in 12 patients and 54 patients, respectively. The results of stem cell mobilization were excellent. Ninety-seven percentages of the patients had the stem cell collection of at least 2.0 × 10⁶ CD34⁺ cells/kg and 68% had at least 5 × 10⁶ CD34⁺ cells/kg. Fifty-eight percentage of the patients experienced Grade 4 neutropenia, 20% developed febrile neutropenia, and only 12% had Grade 4 thrombocytopenia. At a median follow-up of 63.8 months, the 5-year PFS and OS were 64.4% and 75.3%, respectively.

Conclusion:

ICE is a powerful regimen for stem cell mobilization in patients with lymphomas.     

Clinical effects of autologous stem cell transplantation as consolidation treatment in 70 multiple myeloma patients: a case-controlled study

Background  Autologous stem cell transplantation (ASCT) is a part of the standard induction therapy of multiple myeloma (MM). This case-controlled clinical trial aimed to further evaluate the therapeutic effects of ASCT as a consolidation therapy for MM and discuss factors influencing the prognosis.

Methods  Clinical data of 70 patients diagnosed as MM who received ASCT as a consolidation therapy in our hospital between October 1998 and August 2010 were analyzed retrospectively (ASCT group). Other 70 MM patients receiving routine chemotherapy without ASCT (non-ASCT group) during the same period were used as controls. Differences in the degree and duration of remission, progression-free survival (PFS) and overall survival (OS) were compared to explore factors that may influence the prognosis.

Results  The median follow-up period was 38 months (range 1–128 months). The complete response (CR) rate of ASCT group increased from 27.1% (19/70) before ASCT to 51.4% (36/70) after ASCT. The median PFS of ASCT group was significantly higher than non-ASCT group (45 months vs. 25 months, P <0.001). The median OS of ASCT group was also significantly higher (55 months vs. 30 months, P=0.016). Single-factor analysis showed that International Staging System (ISS) stage, very good partial response (VGPR) or better outcome were significantly correlated with PFS and OS (P <0.001). Multi-factor analysis showed that whether or not VGPR or better outcome was achieved were independent factors influencing the disease prognosis.

Conclusion  Used as a consolidation therapy, ASCT can achieve better responses and higher OS and PFS of MM patients.

     

Hyper-CVAD chemotherapy or autologous stem cell transplantation in patients with peripheral T cell lymphomas: a single centre report

Background  Peripheral T-cell lymphoma (PTCL) is generally characterized by poor prognosis after conventional chemotherapy. The place for high-dose chemotherapy and autologous stem cell transplantation (ASCT) in these patients is still not clear. In this study, we presented the outcomes of PTCL patients followed these treatments in our centre.

Methods  We retrospectively analyzed the outcomes of 39 patients with PTCL received the two treatments between 1999 and 2010.

Results  The 3-year overall survival (OS) of 61.9% and 3-year progression free survival (PFS) of 35.7% were observed in the 39 patient. Twenty-one patients received Hyper-CVAD chemotherapy with 3-year OS of 46.2% and 3-year PFS of 27.9%. Eighteen patients received ASCT with 3-year OS of 70.3% and 3-year PFS of 44.2%. Further analysis revealed that patients with elevated lactate dehydrogenase, at least 2 international prognostic index (IPI) points, and extranodal involvement had a poorer outcome compared with the control group.

Conclusion  These findings might suggest that Hyper-CVAD chemotherapy and ASCT could offer a durable survival benefit for patients with aggressive PTCL.

     

Does long-term partial sodium channel blockade alter disease progression in MS? Evidence from a retrospective study

Background

There is accumulating evidence that long-term disability and disease progression in multiple sclerosis (MS) are due to prolonged sodium channel opening along demyelinated axons. Despite good evidence in animal models of MS that partial voltage-gated sodium channel (VGSC) blockade reduces disease progression, little is known about its effects in patients, despite widespread use of such agents in the symptomatic management of MS.

Objective

To determine if long-term exposure to the VGSC-blocking drug carbamazepine (CBZ) alters disease progression in MS.

Methods

Using a retrospective chart review of patients diagnosed with MS, we compared progression of disability between patients exposed the VGSC blocker CBZ with those who were not exposed to the drug. Both whole-group and matched case–control analyses were performed after correcting for the influence of age, gender, MS subtype, expanded disability status score at diagnosis, use of disease-modifying therapy, and year of initial therapy. The multiple sclerosis severity scale (MSSS) was used as a measure of disease severity. The primary outcome measure was MSSS score difference between groups.

Results

Four hundred patients were included; 51 received CBZ symptomatic therapy (average duration of therapy 27 months). There was no significant difference in mean MSSS between the two groups in either the whole group comparison (p = 0.63) or the matched analysis (p = 0.12).

Conclusion

Despite preclinical evidence suggesting a neuroprotective role of VGSC blockers in animal models of MS, this retrospective study suggests that long-term exposure to the VGSC-blocking drug CBZ fails to alter long-term disability and disease progression in MS patients.     

恶性肿瘤患者自体造血干细胞移植后的生活质量

目的研究我国恶性肿瘤患者自体造血干细胞移植（ASCT）后的生活质量状况。方法应用欧洲癌症研究与治疗组织（EORTC）QLQ—C303．0生活质量问卷中文版对1991至2004年中国医学科学院肿瘤医院89例接受ASCT,并目前处于无病状态患者的生活质量进行分析。结果总体健康状况和功能评分均接近或超过80分,80％以上的患者总体健康状况和功能状况良好,出现中重度经济斟难、睡眠障碍、乏力、呼吸困难和腹泻的患者分别占72．5％（65例）、50．6％（45例）、42．7％（38例）、33．7％（30例）和32．5％（29例）;女性患者的呼吸困难症状评分显著高于男性（P=0．024）;总体健康状况、躯体功能、角色功能、社会功能评分随时间的延长明显升高（P=0．000,0．000,0．031,0．029）,乏力症状的评分则明显降低（P=0．020）;霍奇金淋巴瘤患者的恶心、呕吐和呼吸困难症状的评分显著高于非霍奇金淋巴瘤患者（P=0．002,0．006）;移植及评价时处于不同年龄阶段患者的评分比较,差异无统计学意义。结论患者在ASCT治疗后,多数具有较好的总体健康状况和功能状况,经济困难、乏力、呼吸困难、睡眠障碍和腹泻是影响他们生活质量的主要症状;女性患者的呼吸困难症状比较突出,患者的生活质茸会随着距离移植时间的延长逐步改善,霍奇金淋巴瘤患者较非霍奇金淋巴瘤患者有更多的症状主诉,没有发现移植和评价时年龄对患者的生活质量产生影响。     

Report from the Chinese Bone Marrow Transplant Registry with special regard to autologous transplant

OBJECTIVE: To study the current status of autotransplantation in the People's Republic of China and facilitate national and international exchange of relevant experiences. METHODS: On the basis of the materials collected from the member units around our country, various statistical methods, such as Kaplan-Meier and chi 2 tests, were used to estimate the probabilities of leukemia free survival (LFS). RESULTS: Up to July 31, 1996, a total of 1213 cases of stem cell transplantation (SCT) were performed in 61 medical units in the People's Republic of China, and 22 of the units are able to perform both allogeneic SCT (Allo-SCT) and autologous-SCT (ASCT). The remaining 41 units had the capacity only to perform autologous-SCT. There were 772 cases of autologous SCT performed. The three year probabilities of leukemia free survival for acute mylogeneous leukemia complete remission (AML-CR1) and acute lymphocyte leukemia complete remission (ALL-CR1) recipients were 56% and 42.8%, respectively. The three year probabilities of relapse were 44.8% and 47%, respectively. Among the patients with acute leukemia who attained CR1 within 40 days of diagnosis and who subsequently underwent autotransplantation within three to six months, the three year probabilities of LFS for acute mylogenous leukemia (AML) and acute lymphocyte leukemia (ALL) were 72% and 50%, respectively. CONCLUSIONS: Patients who attained complete remission (CR1) within 40 days after diagnosis and underwent subsequent autologous-SCT within three to six months of CR1 enjoyed a significantly increased LFS.     

自体造血干细胞移植治疗复发、难治性经典型霍奇金淋巴瘤的疗效观察

目的 评价自体外周血造血干细胞移植对复发、难治性的经典型霍奇金淋巴瘤治疗疗效,并探讨临床预后因素.方法 对本中心2000-2013年所有复发、难治性经典型霍奇金淋巴瘤97例患者进行回顾性分析,随访至少12个月.按治疗方法分为自体造血干细胞移植组(n=52)和未移植继续放化疗组(n=45).分析两组患者的临床特征及疗效,Kaplan-Meier法行生存分析,COX逐步回归进行多因素预后分析.结果 移植组出现Ⅳ级骨髓抑制、消化道反应及粒细胞缺乏伴发热的发生率明显高于未移植组(P＜0.05),其余并发症的发生率差异无统计学意义(P＞0.05).中位随访56(12 ～158)个月,移植组死亡6例,病死率11.5％,3年无进展生存率(progression-free survival,PFS)为(78.6±6.20)％,总生存率(overall survival,OS)为(85.9±5.5)％;未移植组死亡21例,病死率46.6％,3年PFS为(43.1±7.60)％,OS为(54.1±8.1)％.移植组3年OS及PFS均明显优于未移植组(P＜0.05).移植前行正电子发射计算机断层显像(positron emission tomography,PET)检查,PET阴性评判为CR的患者,其PFS明显优于PET阳性的患者(P=0.021),而对于OS差异无统计学意义(P=0.077).COX多因素分析显示,未采用ASCT、LDH值高于正常、有骨髓侵犯是影响PFS的危险因素;而未采用ASCT、LDH值高于正常、国际预后评分≥3以及有骨髓侵犯是影响OS的危险因素.结论 自体造血干细胞移植在治疗复发、难治性霍奇金淋巴瘤的疗效肯定,其安全性较好,在我国可作为复发、难治性经典型霍奇金淋巴瘤有效的治疗方案.     

儿童Ⅲ期神经母细胞瘤的临床观察

目的 分析儿童Ⅲ期神经母细胞瘤(NB)的诊治方案、远期疗效及影响预后因素.方法 回顾性分析1999年1月至2007年5月在我院初诊并接受NB-99方案治疗和随访的Ⅲ期NB患儿.结果 在101例NB患儿中,Ⅲ期患儿30例,占29.7%,其中男性患儿19例,女性患儿11例.诊断时年龄(33±30)个月.原发部位以腹部和后纵隔多见,分别为16例和10例.病理分型为预后良好型者21例.11例患儿进入中危组治疗;6例患儿在化疗后行自体造血干细胞移植;5例在化疗后未接受维甲酸治疗.随访期5-96个月,中位随访时间43个月.28例患儿在治疗中达完全缓解,有7例出现复发,总的无事件生存率和存活率分别达74%±9%和77%±8%.单因素分析显示初诊时病理分型、乳酸脱氢酶(LDH)水平、血清铁蛋白(SF)水平和是否进行维甲酸治疗与Ⅲ期NB患儿的预后相关(X2=9.48、6.82、9.17、9.06,均P<0.05);多因素分析显示LDH、SF、维甲酸治疗和干细胞移植与预后相关(OR=3.95、3.44、2.64、1.27,均P<0.05).结论 儿童Ⅲ期NB疗效受LDH、SF、维甲酸治疗和干细胞移植等因素影响.     

新疆地区28例儿童及青少年淋巴母细胞淋巴瘤临床及预后分析

目的 探讨新疆地区汉族、维吾尔族儿童及青少年淋巴母细胞淋巴瘤（lymphoblastic lymphoma,LBL）患者的临床病理特征及预后。方法 回顾性分析新疆医科大学附属肿瘤医院2003年1月-2011年12月收治的28例汉族、维吾尔族儿童及青少年LBL患者的临床病理资料,患者的治疗方案包括CHOP、CHOP样方案、改良的Hyper—CVAD和BFM方案及自体干细胞移植（autologous stem cell transplantation,ASCT）。采用Kaplan-Meier法对各方案治疗的患者进行生存分析。结果 28例患者中位随访15个月（4～86个月）,完全缓解（complete remission,CR）11例,部分缓解（partial remission,PR）2例,疾病进展（progression of disease,PD）15例,总有效率为46．4％。生存13例,死亡15例,死亡的原因主要为疾病进展或复发（1例死于感染）。1年、2年的总体生存率（overall survival,OS）分别为61％、46％。采用改良的Hyper—CVAD和BFM方案治疗的患者的OS显著高于单纯采用CHOP、CHOP样方案治疗的患者的OS（P〈0．01）。结论 新疆地区儿童及青少年LBL绝大多数为T-LBL,LBL总体生存率较低,采用改良的BFM方案和Hyper—CVAD方案可改善儿童及青少年LBL患者预后。     

盐酸埃克替尼治疗体力状况较差 EGFR 基因状态不明肺腺癌的临床疗效

目的：评价埃克替尼治疗 EGFR 基因状态不明体力状况较差晚期肺腺癌患者的疗效及安全性。方法分析2012年8月至2014年8月在重庆市肿瘤研究所就诊的27例美国东部肿瘤协作组-体力状况（ECOG-PS）评分大于或等于2分的晚期EGFR 基因状态不明肺腺癌患者,口服盐酸埃克替尼125 mg ,3次／d ,评价近期疗效和不良反应,计算生存率。结果27例患者,客观缓解率（ORR）为29．6％,疾病控制率（DCR）为81．5％,中位无进展生存期（PFS）6个月。 ECOG-PS 评分得到改善的比例为70．4％,治疗前、后比较差异有统计学意义（Z＝-2．157,P＝0．031）。毒性反应主要为Ⅰ～Ⅱ度的皮疹、乏力、纳差及腹泻。结论埃克替尼治疗 ECOG-PS ≥2分、EGFR 基因状态不明的晚期肺腺癌患者,不良反应未明显增加,耐受性良好,患者可以从埃克替尼的治疗中明显获益。     

脐带间充质干细胞移植治疗肌萎缩侧索硬化症的疗效分析

目的通过对临床住院接受干细胞治疗的99例肌萎缩侧索硬化症患者分析,了解干细胞治疗肌萎缩侧索硬化（ALS）的效果,同时对接受治疗的患者进行跟踪随访,从而进一步判断干细胞治疗ALS的长期疗效。方法采集脐带间充质干细胞并进行培养、流式鉴定、无菌鉴定;临床收集ALS病例,所有的ALS诊断均符合El Escorial诊断标准;确诊的ALS患者均给予4次腰椎穿刺脐带间充质干细胞移植,移植术前及术后由同一康复师使用ALSFRS评分、Plaitaks评分以及本课题改良的Plaitaks评分进行评价,最后对所得数据进行统计分析。结果三种评分方法都证明干细胞移植可以改善ALS患者的运动功能（P〈0.001）,但是疗效维持时间较短,出院半年后只有25%的患者症状较治疗前改善。结论干细胞治疗ALS是有效的、安全的。     

VRD与VCD方案诱导治疗后序贯自体造血干细胞移植对新诊断的多发性骨髓瘤患者的疗效分析

目的 评价硼替佐米+来那度胺+地塞米松(bortezomib-lenalidomide-dexamethasone,VRD)与硼替佐米+环磷酰胺+地塞米松(bortezomib-cyclophosphamide-dexamethasone,VCD)两种诱导治疗方案对接受自体造血干细胞移植(autologous stem cell transplantation, ASCT)的多发性骨髓瘤(multiple myeloma, MM)患者的疗效、干细胞采集和预后的影响。方法 回顾性分析首都医科大学附属北京朝阳医院自2010年10月至2019年10月间接受VRD(39例)或VCD(71例)方案诱导治疗后序贯自体外周血干细胞移植、长期随访并且资料完整的110例MM患者的临床数据。对采用两种方案的两组患者进行疗效评估和生存分析。并分析对细胞采集的影响。结果 两组患者移植后,缓解深度和二代流式法所测得的微小残留病(minimal residual disease, MRD)阴性率均得到了提高。与移植前相比,VCD组移植后3个月的完全缓解(complete response,CR)/严格意义完全缓解(stringent complete response, sCR)率从39.4%提升至59.1%(P=0.001),MRD阴性率从16.7%提高至41.7%(P=0.003)。而VRD组的CR/sCR率从51.2%提升至67.6%(P=0.008),MRD阴性率也由26.1%提高至47.8%(P=0.059)。具有高危细胞遗传学[t(4;14), t(14;16)和del(17p)]的患者也可达到相似的疗效。在生存时间方面,VCD组的中位无进展生存期(progression-free survival,PFS)与总体生存期(overall survival,OS)分别为72.0个月与98.0个月,而VRD组的中位PFS及OS均尚未达到(PFS:P=0.856;OS:P=0.382)。VRD组采集CD34⁺细胞数显著低于VCD组(3.52×10⁶/kg vs 4.65×10⁶/kg,P=0.046),但两组间动员失败患者数差异无统计学意义。VRD方案诱导治疗超过4个疗程后,采集的CD34⁺细胞数即有下降趋势,而VCD方案诱导治疗3~6个疗程对CD34⁺细胞数无明显影响。结论 与VCD方案相比,VRD方案诱导治疗能够达到更深层次的缓解,但对生存并无显著影响。VRD方案的诱导治疗疗程数对干细胞的采集数量有一定影响,其采集干细胞前疗程数不宜超过4个。     

重庆地区多发性硬化临床和影像特征分析

目的:探讨多发性硬化(Multiple sclerosis,MS)的临床和影像学表现.材料与方法:收集资料完整符合McDonald诊断标准的180例MS患者作为研究对象,按照国际MS中心制定的扫描序列进行扫描,分析MS主要临床特点、脑和脊髓病灶影像特点以及与临床残疾状态功能评分(Expanded disability status scale,EDSS)的相关性.结果:(1)本组MS患者以上呼吸道感染为主要诱因之一(27.78%),以肢体无力为最常见的症状(54.4%).(2)按照病灶受累的部位分类:单纯脑部受累45.56%,单纯脊髓受累29.44%,脑和脊髓均受累25%,三者之间的EDSS评分有统计学差别(P<0.05).(3)下颈髓和上胸髓最易受累,≤3个节段的病灶数占74.49%,累及1～2个节段脊髓病灶例数最多.结论:结合临床和MRI影像特征,有利于MS的诊断和监测病灶的发展.     

鸟氨酸氨甲酰转移酶缺乏症诊治专家共识

鸟氨酸氨甲酰转移酶（OTC）缺乏症（OTCD）是由OTC基因突变引起OTC酶活性降低或缺失导致的常见鸟氨酸循环障碍疾病,为X连锁遗传病。OTCD的发病时间与酶活性缺乏程度有关,新生儿期起病型患者通常为OTC酶活性完全丧失,多为男性半合子突变,起病急且进展迅速,病死率高;迟发型患者发病年龄及临床表现个体差异较大,病程可为渐进性或间歇性,急性发作以神经精神症状为主要表现,同时可伴有肝功能损害甚至急性肝衰竭等消化系统症状。血氨升高是OTCD患者的主要血生化异常指标,OTCD患者的典型表现是血液谷氨酰胺增加伴瓜氨酸减少,尿乳清酸增加,OTC基因突变是OTCD确诊的重要依据。治疗目标是尽可能减少高氨血症造成的神经系统损害,同时保证患者发育所需的营养。对于药物和饮食治疗效果不佳的患者,建议在代谢状态稳定且没有严重神经系统损伤的条件下进行肝移植。在长期治疗过程中,应定期监测患者体格生长指标、营养摄入情况和血氨、血脂、肝功能及血氨基酸等生化指标。本共识有助于规范OTCD的诊治,以改善患者预后、减少死亡及残障。     

环磷酰胺治疗多发性硬化临床观察

目的：多发性硬化(MS)目前无特殊治疗方法，本观察旨在观察环磷酰胺(CTX)治疗MS的疗效和安全性。方法：10例MS病人．为继发进展型及复发进展型MS。采用环磷酰胺治疗，1000mg每周1次静点，共10次；以后每2周1次，共10次；最后每月1次，共10次．总量30g左右。结果：CTX疗法在本次观察中显示有一定疗效，且无严重的副作用，可以耐受。结论：CTX疗法可以减少MS复发及进展，且副作用可以耐受。