经皮肤活体组织检查确诊的Lafora病五例

目的 探讨Lafora病的临床、病理特点及诊断方法.方法 总结分析5例经腋窝皮肤活体组织检查确诊的Lafora病患者的临床和组织病理学特点.5例患者都进行了腋窝皮肤活体组织检查,常规行HE、糖原(PAS)和阿辛蓝-糖原(AB-PAS)染色.结果 5例患者中4例青少年发病,1例成年起病.所有患者均表现为进行性加重的强直阵挛发作、肌阵挛和智能损害,可早期出现性格改变,构音障碍和行走不稳.腋窝皮肤活体组织检查发现Lafora包涵体存在于大、小汗腺的肌上皮细胞和导管细胞内.结论 经皮肤活体组织检查发现PAS阳性圆形或卵圆形包涵体,结合Lafora病典型的临床表现可以确诊该病;皮肤活体组织检查的部位可选择腋窝或腋窝以外的部位.     

The kidneys in paroxysmal nocturnal hemoglobinuria

Long-term study of 21 PNH patients revealed an unexpectedly high incidence of functional and anatomic renal abnormalities. Most patients demonstrated varying degrees of hematuria and proteinuria distinct from hemoglobinuria. Evaluation of renal function revealed hyposthenuria, abnormal tubular function, and declining creatinine clearance. Radiologically these patients had enlarged kidneys, cortical infarcts, cortical thinning, and papillary necrosis which were confirmed by autopsy studies. Hypertension developed in eight patients. Urinary tract infection was uncommon. The renal findings bear striking similarity to those of sickle cell anemia. Contrary to the usual opinion, out studies clearly showed evidence of widespread renal pathology in PNH most likely due to repeated microvascular thrombosis similar to the venous thrombosis involving other organs in this disorder.     

脊髓延髓肌萎缩症临床及电生理特点分析

目的分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识。方法收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点。结果脊髓延髓肌萎缩症患者青年发病,病情进展缓慢。神经系统表现为以肢体近端和延髓部受累为主的瘫痪。舌肌受累较早,运动功能损害较轻。血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者。三核苷酸(CAG)重复序列数目43～51(平均47.2±3.6pg/ml)。患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常。肌电图为广泛神经源性损害。结论脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起病,缓慢加重,以肢体近端无力为主的瘫痪。     

Low rate of active treatment of patients with hilar cholangiocarcinoma

Introduction

The results of surgical resection and palliative chemotherapy use in hilar cholangiocarcinoma (HC) have been well publicised but the proportion of patients able to undergo these treatments and the comparative outcomes in a population of patients with HC are less well known.

Methods

Patients with HC were identified by review of all patients undergoing percutaneous cholangiography over a nine-year period (2002–2010) in a tertiary facility. The treatment undertaken and outcomes were recorded.

Results

Overall, 68 patients were identified (37 female) with a median age of 70 years. Forty-five (66%) were treated solely by insertion of a metal stent (median survival 4.73 months) and nine (13%) also received palliative chemotherapy (median survival 13.7 months). Persisting jaundice after stent insertion was noted in 18 of 35 patients (51%) tested within one month of death. Fourteen patients (21%) underwent surgical resection (median survival 20.2 months).

Conclusions

Patients undergoing surgical resection had significantly longer survival than those receiving only a palliative stent but not compared with those also receiving palliative chemotherapy, with short-term follow-up. Only a third of patients, however, receive active treatment (surgery or chemotherapy) and improvements in long-term biliary palliation are needed.     

胃癌细胞增殖与腹腔灌洗液中端粒酶活性及腹膜转移的相关性研究

目的 研究胃癌增殖细胞核抗原（proliferating cell nuclear antigen，PCNA）表达与腹腔灌洗液端粒酶活性及腹膜转移的相关性，并比较腹腔灌洗液中端粒酶活性和细胞学检测游离癌细胞预测腹膜转移的应用价值。方法 应用免疫组化SP法检测60例胃癌患者胃癌组织中PCNA表达，PCR—TRAP-ELISA法检测腹腔灌洗液中端粒酶活性，同时行腹腔灌洗液脱落细胞学（peritoneal lavage cytology．PLC）检测；并分析其与相关临床病理因素的关系。结果 胃癌患者腹腔灌洗液中端粒酶活性的阳性率为41．7％；与浆膜侵犯、组织学类型、浸润深度、浆膜受累面积及腹膜转移密切相关，并随着浸润深度及浆膜受累面积的增加而升高（P〈0．05）。PLC检测阳性率为25．0％；在伴肉眼可见腹膜转移灶（P1-3）者明显增高，也随着浸润深度及浆膜受累面积的增加而升高。两种方法检测的阳性率总体上差异无统计学意义。但在未分化型癌、pT1、伴肉眼可见腹膜转移灶（P1-3）者端粒酶活性阳性率明显高于PLC。PCNA增殖指数（PI）在腹腔灌洗液端粒酶活性表达阳性者明显高于表达阴性者，伴肉眼可见腹膜转移灶（P1-3）者明显高于无肉眼可见腹膜转移灶（P0）者，浆膜受侵者明显高于浆膜未受侵者（P均〈0．05）。结论 两种方法均适用于胃癌腹腔脱落癌细胞的诊断或腹膜转移的预测，端粒酶活性检测微量癌细胞的灵敏度优于PLC法检测；胃癌端粒酶活性与恶性增殖活性密切相关；胃癌高增殖活性是浆膜受侵及腹膜转移的重要原因。     

基因芯片筛选尿道下裂雌激素敏感基因的研究

目的 寻找与尿道下裂发病密切相关的基因,探讨尿道下裂形成机制.方法 ①实验组为12例尿道下裂患儿,年龄6～12个月,平均8个月.尿道下裂中度5例,重度7例.组织标本取自尿道成形手术时切取的尿道板组织.②对照组为6例年龄匹配的男性患儿,留取包皮环切时的正常表皮组织.用Tri-Reagent分别提取总RNA,与含22 000个人类基因的寡核苷酸基因芯片杂交、洗脱、染色、扫描,基因强度变化行方差分析(ANOVA,P＜0.01)和Tukey分析,基因表达强度变化＞2倍作为有意义的基因,比较尿道下裂和正常组织之间基因表达差异.从上调表达的基因中选择雌激素敏感基因行RT-PCR,标本除上述患儿RNA外,再增加年龄配对的3例中度、1例重度尿道下裂和2例年龄配对的RNA作为对照,即对照、中度和重度尿道下裂患者RNA标本各8例,验证芯片结果.结果 尿道下裂组织与正常组织之间存在明显的基因表达差异,共筛选出表达强度变化＞2倍的基因94个,其中中度尿道下裂与正常比较,47个基因上调表达(P＜0.01);重度尿道下裂与正常比较,68个基因上调表达(P＜0.001);重度与中度比较,17个基因上调表达(P＞0.05).上调表达的基因中发现了4个雌激素敏感基因CYR61、结缔组织生长因子、ATF3和GADD45β,基因芯片和RT-PCR均证实其在尿道下裂组织中的表达明显高于正常对照.结论 异常表达的基因与尿道下裂的发生有关,尿道下裂组织中雌激素敏感基因上调表达参与了尿道下裂的发病机制.     

半导体激光联合药物治疗带状疱疹

目的观察半导体激光联合药物治疗带状疱疹的疗效。方法将97例带状疱疹患者随机分成2组。对照组45例单纯药物治疗(静脉注射5%葡萄糖注射液250 ml加入阿昔洛韦0.5 g,每日2次;本院自制中药冷湿敷患处,每次15 min,每日2次)。治疗组在上述药物治疗基础上加用半导体激光照射受损的神经根部和皮损部位。疗程7 d。结果治疗组与对照组治疗后病情积分均有所下降(P<0.01),治疗组的病情积分下降明显大于对照组(P<0.01);治疗组的疼痛积分明显下降(P<0.01);对照组的疼痛积分无明显下降,治疗组有效率大于对照组,后遗神经痛发生率低于对照组。结论半导体激光联合药物治疗带状疱疹疗效优于单纯药物治疗,且可明显减轻疼痛症状,降低后遗神经痛发生率。