以中枢神经系统受累为首发表现的干燥综合征1例并文献复习

目的:提高对干燥综合征中枢神经系统损害的认识,了解其特点及治疗。方法:报告1例以中枢神经系统受累为首发表现的干燥综合征病例,并对相关文献进行复习。结果:此例患者以脊髓病变为首发症状,长期口干、眼干,查体及实验室等相关检查诊断干燥综合征明确。结论:干燥综合征可存在中枢神经系统损害,其中脊髓病变较常见,应注意完善影像学及脑脊液检查,并与系统性红斑狼疮等结缔组织病相鉴别。     

原发性干燥综合征患者神经系统病变的临床研究

目的：探讨原发性干燥综合征患者合并神经系统损害的发生率,并分析其出现外周和中枢神经系统受累的临床特点。方法：共纳入34例原发性干燥综合征患者,进行神经系统查体,头MRI、脑脊液化验以及电生理检查。结果：34例患者有15例出现神经系统症状,其中11例表现为外周神经受累,分别为3例颅神经受累,6例多发神经病变,1例多发单神经炎,1例怀疑小纤维神经病;4例为中枢神经受累,分别为．1例患者头和脊髓多发脱髓鞘病变,2例大脑单个灶性病变,1例脑干病变。患者间免疫学检查未见显著差异。结论：原发性干燥综合征患者合并神经系统病变的发生率约为44．1％,外周神经损伤尤其是感觉神经损伤更常见,未发现特异性神经系统改变。与不伴神经系统病变的原发性干燥综合征患者相比较,未发现显著的差异以及能够辅助诊断的实验室检查结果。     

脊膜瘤13例误诊分析

目的:探讨脊膜瘤的误诊原因及鉴别诊断方法。方法:将2010年9月至2015年9月收治的13例脊膜瘤误诊患者的临床资料做一回顾性分析。结果:13例患者分别被误诊为颈椎病,腰椎间盘突出症,肋间神经痛,心绞痛,关节炎,神经根炎。结论:脊膜瘤临床表现为慢性进行性脊髓压迫症状,极易误诊,应提高对脊膜瘤特殊表现的鉴别诊断,并及时选做相应的辅助检查,早期诊断尽量减少误诊的发生。     

类风湿性关节炎与系统性红斑狼疮重叠综合征一例报告及文献复习

目的:探讨类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠综合征(Rhupus综合征)的临床表现及治疗方法,以期提高对本病的认识。方法:对1例类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠的Rhupus综合征患者的病例资料进行分析。结果:本例患者为中年女性,以RA为首发表现,8年后出现SLE特征性表现。就诊时关节症状较严重,出现多关节变形。本例患者肾脏损害重,糖皮质激素联合甲氨喋呤治疗有效。结论:Rhupus综合征在临床上罕见,加强特异性抗体检查,可减少误诊漏诊,早期正确诊断,积极治疗,对于改善患者预后具有重要意义。     

系统性红斑狼疮并发隐球菌性脑膜炎:1例报告并文献复习

目的探讨系统性红斑狼疮(SLE)合并隐球菌性脑膜炎的诊断及鉴别诊断。方法对1例SLE并发隐球菌性脑膜炎患者的临床及实验室检查特点进行分析,并结合文献复习进行讨论。结果患者出现中枢感染前长期使用泼尼松治疗,曾误诊为狼疮脑病应用激素冲击治疗无效;治疗过程中出现狼疮活动,激素加量后症状缓解。结论 SLE并发隐球菌性脑膜炎患者的临床表现缺乏特异性,感染相关症状与SLE表现部分重叠,腰穿脑脊液墨汁染色找隐球菌和隐球菌抗原乳胶凝集试验是诊断的主要手段。及时诊断和有效抗真菌治疗可改善患者的预后。     

Goodpasture综合征13例回顾分析

目的:探讨Goodpasture综合征的临床特征及诊治要点.方法:对13例Goodpasture综合征患者的临床表现、实验室检查、诊断与治疗等资料进行回顾性分析.结果:13例患者中,全部患者(100％)均有咯血,12例(92.3％)有镜下血尿,大多数患者咯血症状先于肾小球肾炎症状出现.10例(83.3％)抗GBM抗体阳性.12例接受完整治疗方案的患者,有效7例,有效率58.3％.无效死亡5例,平均生存期为(91± 100.1)月.结论:Goodpasture综合征是一组病变进展迅速,预后凶险的自身免疫性疾病,显效组在确诊天数上与有效组与死亡组间的差别具有统计学意义(P均＜0.05),改善疾病预后的关键是早发现、早诊断、早治疗.     

酒精成瘾诱发的假性库欣综合征一例报道及文献复习

目的报道1例由慢性酒精成瘾诱发的假性库欣综合征,以扩展临床医师对酒精危害及其导致疾病谱的认识。方法对本院发现的1例假性库欣综合征病例的病因进行分析,其临床特点进行对比观察,国内外相关文献报道进行复习总结。结果患者入院后发现皮质醇增多,小剂量地塞米松抑制试验不被抑制,大剂量地塞米松抑制试验被抑制。垂体、肾上腺及其他部位都未发现占位性病变。戒酒后20d皮质醇水平恢复正常,规律随访半年,皮质醇水平及节律无明显异常。诊断为假性库欣综合征。文献复习结果筛选出65篇相关病例报道,对65篇文献报道的慢性酒精成瘾诱发的假性库欣综合征与库欣综合征临床症状和体征进行分析总结,结果只在肌肉萎缩及乏力和中心性肥胖等方面发现了微细差别。结论长期大量饮酒可通过多种机制诱发假性库欣综合征,与真性皮质醇增多症的鉴别比较困难,临床上需结合患者的临床表现、体格检查以及实验室检查结果与库欣综合征进行鉴别,其中重要的方法是通过观察检测戒酒后的一些生化学检查指标进行鉴别和确诊,以防造成误诊而致过度医疗。     

Alport 综合征1 例报道及文献复习

目的:探讨Alport综合征的临床表现,病理学特征及研究进展。方法:分析1例此病患者的临床资料。结果:本例患者临床表现为慢性视力下降。尿常规检查提示蛋白尿,血尿。肾肾穿刺活检的光镜、电镜检查均支持诊断。结论:Alport综合征患者中眼部异常的表现有独特性;了解眼部病变特征并结合全身病史,病理学检查有助于疾病的诊断和随诊。     

以急性心肌梗死为首发表现的肾病综合征1例及文献复习

目的:肾病综合征患者,较少出现并发动脉血栓,尤其少以动脉栓塞作为首发表现,结合汇报我院1例以急性心肌梗死为首发表现的肾病综合征患者的诊疗过程,探讨此类病人的诊治方法及预防措施.方法:报告中国人民解放军北京军区总医院1例以急性心肌梗死为首发表现的肾病综合征病例,汇报其临床资料、诊疗过程等并复习相关文献,对其临床表现、诊断、治疗及预后进行分析,并总结治疗经验,提出防治措施.结果:1例以急性心肌梗死为首发表现的肾病综合征患者经治疗病情好转后出院,出院后继续肾病综合征治疗,目前患者恢复良好.结论:肾病综合征患者,因为自身存在高凝状态,其引起静脉血栓较为常见,而引发动脉栓塞并不多见,以冠脉栓塞并为首发表现尤为少见,极易误诊或漏诊,在临床工作中应该引起足够重视.     

首发症状为食管隆起的甲状腺乳头状癌的临床病理观察

目的 探讨以食管累犯为首发症状的甲状腺乳头状癌的临床表现、病理学特征、免疫表型、鉴别诊断、治疗及预后。方法 报道一例甲状腺乳头状癌转移至食管,并首先以食管部位为首发临床症状的病例进行组织学形态、免疫表型分析,并文献复习。结果 患者女性,44岁。因颈部不适,外院电子胃镜提示食管隆起病变,活检:镜下见上皮细胞成乳头状增生,可见明显纤维血管轴心,细胞围绕纤维血管轴心生长,较小,核稍深染,部分区域可见明显核仁。免疫组织化学示甲状腺肿瘤标记物:TPO、Tg、TTF-1、Galectin-3均为阳性,我院会诊考虑为甲状腺乳头状癌转移。随后入我院就诊,行甲状腺检查发现甲状腺结节,手术切除甲状腺组织后病理检查为甲状腺乳头状癌。结论 甲状腺乳头状癌较常见,但首先以食管部位临床表现为首发症状的较少,因此,应注意根据组织形态学、免疫组织化学及临床相关资料,鉴别诊断食管异位甲状腺癌变及原发甲状腺癌侵犯食管,避免误诊。     

Pulmonary paragonimiasis. Report of a case with diagnosis by fine needle aspiration cytology.

We report a case of paragonimiasis in a Nigerian woman evaluated for symptoms of chronic respiratory disease five years after chemotherapy for primary lymphoma of the breast. Fine needle aspiration of one of two fibrocavitary pulmonary lesions yielded thick, brown material in which ova diagnostic of Paragonimus westermani were identified cytologically. This disease is unusual in natives of North America but is seen in travelers and immigrants from Asia, Africa, and South and Central America, where it is endemic. The infection can be fatal, especially if it involves the central nervous system. The clinical differential is broad, but an accurate diagnosis may be made by fine needle aspiration, thus allowing proper treatment.     

Central nervous system involvement in a case of familial hemophagocytic lymphohistiocytosis with perforin mutation

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The presence of central nervous system involvement has a profound impact on the prognosis, treatment, and clinical outcome of the disease. Therefore, the identification of the clinical manifestations of the disease and the characterization of the accompanying neurological symptoms are of prime importance for the rapid diagnosis and subsequent clinical management of the disease. Herein, we report a case of FHL with homozygosity for perforin gene mutation, who presented with central nervous system involvement in the absence of systemic findings.     

Immunobiology of neuromyelitis optica spectrum disorders

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune inflammatory disease of the central nervous system. Most of the cases are positive for autoantibodies targeting the water channel aquaporin-4 (AQP4-IgG). Activated B and T cells, innate immunity cells, pro-inflammatory cytokines, and activated complement contribute to the formation of the NMOSD lesions. Optic neuritis, longitudinally extensive myelitis, and area postrema syndrome are core clinical manifestations. NMOSD diagnosis is based on clinical manifestations, magnetic resonance imaging findings, and AQP4-IgG positivity. Cell-based assays are the preferred method for the detection of AQP4-IgG. Acute relapses are treated with IV methylprednisolone or plasma exchange. Recent advances on the NMOSD immunobiology led to approved treatments such as eculizumab, satralizumab, and inebilizumab.     

VHL综合征遗传学研究

VHL综合征(von Hippel-Lindau syndrome,VHL;MIM 193300)是一种常染色体显性遗传的多系统肿瘤综合征,最常见临床表现是视网膜或中枢神经系统(central nervous system,CNS)血管母细胞瘤.CNS血管母细胞瘤和肾细胞癌(renal cell carcinoma,RCC)的并发症是VHL患者最主要的死因.VHL综合征主要因VHL基因(the vonHipple-Lindau gene,VHL)突变所致,细胞周期素D1基因(the cyclin D1 gene,CCND1)突变和蛋白异常也可能参与其发生.目前已建立了多个VHL基因缺陷动物模型.在此就VHL综合征的遗传学研究进展作一概述.     

High incidence of free monoclonal lambda light chains in the sera of patients with Sjogren's syndrome

Sjogren's syndrome presents a wide spectrum of disease manifestations ranging from benign to malignant lymphoproliferation. Sera from 21 patients with primary Sjogren's syndrome, 63 patients with other autoimmune rheumatic diseases, and 140 normal controls were studied by using high-resolution gel electrophoresis combined with immunofixation and specific absorption studies. Two-thirds of the sera from Sjogren's syndrome patients contained free monoclonal lambda light chains. In addition, one patient with Sjogren's syndrome and pseudolymphoma had a circulating monoclonal IgM-lambda immunoglobulin. In contrast, only 16% of the patients with other autoimmune diseases and 5% of normals had monoclonal bands; none of the other patients studied exhibited monoclonal-free lambda light chains in their serum. Our findings suggest that the monoclonal process in Sjogren's syndrome starts early in the disease process in a subset of B cells.     

Opinion: Paracoccidioidomycosis and HIV Immune Recovery Inflammatory Syndrome

Two distinct patterns of immune recovery inflammatory syndrome (IRIS) are recognized, paradoxical and unmasking IRIS. Here we raise some concerns regarding the first case of neuroPCM-IRIS published to date, as recently proposed by Almeida and Roza (Mycopathologia 177:137–141, 2017) for a patient originally described by Silva-Vergara et al. (Mycopathologia 182:393–396, 2014), taking in account the different case definitions for IRIS and the cases of neuroparacoccidioidomycosis already described in the literature. We are concerned that data from the case report have been misinterpreted and that no regard has been given to the possibility that the development of manifestations of neuroPCM after starting antiretroviral therapy and antifungal treatments could represent the predicted course of a missed neuroPCM diagnosis at presentation whose treatment failed. We hypothesize that diagnosis of the neuroPCM would not have been missed if careful screening for opportunistic infection of the central nervous system was performed prior to antiretroviral therapy initiation. Currently, there is no definitive diagnostic test for IRIS and diagnostic suspicion, as well as its management, are based on image studies and non-specific clinical signs and symptoms of inflammation. IRIS remains a diagnosis of exclusion, after considering drug toxicity, microbiologic treatment failure and the expected course of newly or previously diagnosed opportunistic infections.     

磁共振扩散加权成像在肺癌中的临床应用

影像学检查在肺癌的诊断和分期中起到了至关重要的作用,目前电子计算机体层成像(CT)和正电子发射断层成像技术以及磁共振成像(MRI)已经被广泛的应用于肺癌的分期和疗效评估。其中MRI不仅能提供形态学信息,近年来发展起来的磁共振功能成像能提供更多的功能信息。磁共振扩散加权成像(Diffusion-weighted imaging,DWI)是最常应用于临床的磁共振功能成像序列。最初主要应用在神经系统,随着磁共振成像序列的不断发展以及软硬件的开发应用,其在腹部和盆腔的应用也日趋广泛,然而胸部DWI成像仍待普及和更多认识。本文就肺部DWI成像在良恶性病变鉴别、恶性肿瘤的筛查、分期、以及治疗疗效评估方面进行综述。     

Thoracic intramedullary sarcoidosis mimicking an intramedullary tumor

Sarcoidosis is a chronic, systemic granulomatous reticulosis of unknown origin, characterized by formation of hard tubercles and noncaseatinggranulomas. Since other infectious diseases such as berylliosis, mycobacterium and fungal infections may present with a noncaseating granulomas, histological diagnosis of sarcoidosis is made using the elimination method. Central nervous system manifestations of sarcoidosis may be present in 5-10% of the cases involving cranial nerves, leptomeninges and third ventricle respectively. Any part of the central nervous system can be affected. Involvement of spinal cord in sarcoidosis is extremely rare and presents with only 0.3-0.4% in patients with systemic sarcoidosis. Intramedullary sarcoidosis is a rare first manifestation of the disease and it can mimic an intramedullary tumor, which is often manifested with symptoms that initiate from spinal cord compression, resulting in paraparesis, sensory disorders and sphincter dysfunction. We present a case of intramedullary sarcoidosis that mimics a tumor of the thoracic spinal cord. Clinical features, neuroradiological, pathohistological findings, laboratory analysis and surgical treatment of such a rare entity are being discussed.