HLA-Ⅱ类基因单倍型与中国北方汉族人皮肌炎/多发性肌炎的相关性研究

目的：探讨HLA-DRB1、DQB1基因单倍型与中国北方地区汉族人皮肌炎，多发性肌炎的相关性。方法：采用聚合酶链反应，序列特异性引物(PCR-SSP)技术，检测中国北方汉族皮肌炎，多发性肌炎患者的HLA-DRB1、DQB1等位基因。结果：与100例正常对照组比较，在52例皮肌炎，多发性肌炎患者中HLA-DRB1^#040x-DQB1^#0301、DRB1^#040x-DQB1^#0401单倍型频率明显增高，经统计学检验两组差别有显著意义，P值分别为0.0307、0.0033。HLA-DRB1^#150x-DQB1^#0602单倍型频率明显降低，P值为0.0201。在38例皮肌炎组中，HLA-DRB1^#040x-DQB1^#0301、DRB1^#040x-DQB1^#0401、DRB1^#070x-DQB1^#0201、DRB1^#120x-DQB1^#0303单倍型频率明显增高，P值分别为0.0292、0.0015、0.0450、0.0192，两组差别有统计学意义。在14例多发性肌炎患者中HLA-DRB1^#070x-DQB1^#0301单倍型频率明显增高，P值为0.0141。结论：特异单倍型可能是决定皮肌炎，多发性肌炎发病及皮肌炎、多发性肌炎异质性的重要因素。     

Recurrent breast cancer at 21 years after resection detected by serum tumor markers and manifested as dermatomyositis

A 52-year-old Japanese woman developed dermatomyositis. She had undergone a standard radical mastectomy for left breast cancer 21 years earlier. Though no physical sign of recurrent breast cancer appeared clinically, levels of tumor markers were abnormally elevated. Therefore, tamoxifen and CAF therapy were given. Further, the clinical course of dermatomyositis almost paralleled the level of serum tumor markers and the clinical course of her recurrent breast cancer. These markers were useful for detecting the recurrence, following the metastatic disease, and monitoring her response to therapy.     

Automatic decomposition electromyography in idiopathic inflammatory myopathies

Automatic decomposition electromyography (ADEMG) is a commercially available software package with installed reference values that enables the objective measurement of motor unit action potentials (MUAPs). To assess the diagnostic yield of this package in idiopathic inflammatory myopathies (IIM) we performed biceps brachii ADEMG in 17 patients with polymyositis, dermatomyositis and inclusion body myositis. Results were compared with those in 12 controls, and with the results of conventional EMG of the biceps and other muscles. Decreased mean values for MUAP duration occurred significantly more frequently in IIM patients than in controls; other MUAP characteristics did not differ. In IIM patients, decreased mean amplitude and increased mean number of turns occurred significantly less frequently on ADEMG than did corresponding abnormalities on conventional biceps EMG. Decreased mean values for duration and amplitude, and increased mean values for number of turns were seen significantly less often on ADEMG than corresponding abnormalities on conventional EMG of four different, individually chosen muscles. Overall evaluation of ADEMG resulted in a diagnosis of possible myopathy in 1 and probable myopathy in 8 patients, whereas overall evaluation of conventional EMG led to a diagnosis suggestive of IIM in 13 patients. We conclude that, although measurement of mean MUAP duration might be valuable in IIM diagnosis, our results do not favour the use of biceps brachii ADEMG and the installed reference values for the diagnosis of IIM. We suggest modifications to improve ADEMG's applicability.     

以泼尼松为主联合治疗多发性肌炎和皮肌炎32例

目的：比较泼尼松联合疗法和单用治疗多发性肌炎 (PM) 和皮肌炎 (DM)的疗效。方法：PM和DM患者67例分为对照组(单用糖皮质激素)35例，给予泼尼松1 mg·kg 1·d 1，qd。治疗组 32例，给予泼尼松1 mg·kg 1·d 1， qd，加甲氨蝶呤片 7.5～10.0 mg，po，每周1次；加火把花根片3片，tid。疗程4周。主要观察指标有肌力变化，皮疹，血清 ALT、AST、LDH、CK的水平及药物副作用发生率。结果∶治疗后两组患者的肌力均有不同程度改善，肌力改善幅度≥2级患者在对照组中占54.3%，在治疗组中占62.5%，二者差异无显著性(P＞0.05)。两组患者在治疗后血清 ALT、AST、LDH、CK水平均比治疗前有明显下降，差异有极显著性(P＜0.01)。治疗组患者的血清ALT、AST、LDH、CK下降的幅度明显大于对照组，差异有显著性(P＜0.05)。结论：与单用糖皮质激素的疗法相比，联合治疗方法能够使血清肌酶更快地下降，对PM和DM有更好的近期疗效。     

皮肌炎与多发性肌炎诊疗规律系统综述

[主要目的]分析皮肌炎与多发性肌炎诊疗规律。[资料来源]在辽宁中医药大学附属第一医院病案室选取2008年1月至2012年6月肌炎住院病历。[选择文献量及依据]①研究类型：临床观察。②研究对象：皮肌炎与多发性肌炎;中医四诊资料齐全;同一患者反复入院症状发生变化时重复纳入,无明显变化时仅纳入第一次入院情况。③诊断分型：湿热痹阻、热毒入络、脾胃虚弱、气血亏虚。④评价指标：临床症状、并发症、实验室检查、肌电图。⑤干预方法：糖皮质激素、免疫抑制剂、中药饮片、豪针、食疗。共30例住院病历。[数据提炼规则及应用方法]临床症状（四肢近端或伴有远端肌肉乏力、肌肉疼痛、四肢抬举受限、颈项活动受限、肌肉萎缩、吞咽困难、周身皮疹、周身皮疹、眶周皮疹、关节疼痛、Cottron征、雷诺现象、发热、口干、眼干）;实验室检查（白细胞、中性粒细胞、贫血、尿常规异常、ESR、CRP、RF、CK、LDH、HBDH、AST、ALT、FT3、FT4、抗dsDNA抗体（＋）、抗心磷脂抗体（＋）、ANA（＋）、Ro．52（＋）、ScL-70（＋）、Jo-1（＋）、ECG）;并发症（肺部、循环系统、胃肠道、类风湿关节炎、胸膜炎、肾脏病变、子宫癌、子宫肌瘤、结肠癌、肺癌、心包积液、肝硬化、甲状腺功能减低、痛风性关节炎）;肌电图（肌源性损害、神经源性合并肌源性损害、神经源性损坏、正常）。以症状出现、实验室检查异常、并发症、肌电图检查结果频次排列。疗效判定：参照《中医病症诊断疗效标准》。采用Excel2010软件建立数据库,统计症状、实验室检查、并发症、肌电图例数、频率。[数据综合得出结果与结论]症状频次排序：四肢近端或伴有远端肌肉乏力28次,关节疼痛10次,肌肉疼痛7次,眶周皮疹7次,Cottron征6次,颈项活动受限5次,发热5次,周身皮疹5次,吞咽困难4次,四肢抬举受限3次,口干、眼干2次,肌肉萎缩1次,雷诺现象1次。实验室检查异常频次排序：LDH23次,CI冲21次,CK21次,ANA（＋）20次,HBDH17次,AST16次,创汀13次,白细胞12次。中性粒细胞10次,ESR10次,ECG8次,贫血7次,Jo．1（＋）6次,Ro．52（＋）6次,RF4次,尿常规异常3次,FT33次,FT43次,抗心磷脂抗体（＋）3次,抗dsDNA抗体（＋）1次,ScL．70（＋）1次。并发症频次排序：肺部8次,循环系统5次,胃肠道反应4次,类风湿关节炎3次,胸膜炎3次,肾脏病变2次,子宫癌1次,子宫肌瘤1次,结肠癌1次,肺癌1次,心包积液1次,肝硬化1次,甲状腺功能减低1次,痛风性关节炎1次。肌电图频次排序：肌源性损害8次,神经源性合并肌源性损害5次,神经源性损坏4次,正常3次。预后结果：治愈3例,显效23例,无效2例,死亡2例,总有效率86．66％。病位主要在肌肉,涉及皮肤、筋脉、关节,与脾胃、肺等。病因为外邪痹阻肌膝、脉络;内因多为脾胃虚弱,气血不足。肌凑脉络痹阻,肌肉失养为主要病机。有虚实之分,虚多为脾胃气血亏虚,久病气血亏虚,加之脾虚失运,水湿停滞,痰瘀始生,痹阻肌肉;实多为寒、湿、热、毒、痰痹阻之邪,易为虚实夹杂之证。治疗初期易祛邪,中后期易扶正或扶正兼祛邪。转归与预后取决于正气盛衰,正气盛,邪气轻则易治,反之难治。[未来展望]中医疗效确切,前景广阔,期待统一病名及辨证分型,探明治疗机制,研发外用药用于皮肤症状。     

戈利木单抗改善难治性幼年型皮肌炎患儿肌力的疗效分析及文献复习

目的:探讨难治性幼年型皮肌炎(JDM)患儿应用戈利木单抗(GLM)的临床治疗效果。方法:收集2019年2月广州市妇女儿童医疗中心过敏免疫风湿科确诊的1例JDM患儿的临床资料,分析总结治疗效果并进行文献复习。结果:患儿,男,7岁,亚急性起病,病情迁延,以皮疹、肢体乏力和吞咽功能障碍为主要表现,查体见向阳疹及Gottron...     

French expert opinion for the management of juvenile dermatomyositis

A guideline group consisting of a pediatric rheumatologist, internists, rheumatologists, immunologists, a physiotherapist and a patient expert elaborated guidelines related to the management of juvenile dermatomyositis on behalf of the rare autoimmune and autoinflammatory diseases network FAI²R. A systematic search of the literature published between 2000 and 2015 and indexed in PubMed was undertaken. Here, we present the expert opinion for diagnosis and treatment in juvenile dermatomyositis.     

Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings

Skin findings are a rare but important aspect of the evaluation and management of patients with tumors of the nervous system. Skin findings have the highest prevalence in genetic tumor syndromes termed neuro-genodermatoses, which include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and tuberous sclerosis. Skin changes are observed in patients with non-syndromic nervous system malignancy, often as a result of pharmacotherapy. The skin may also manifest findings in paraneoplastic conditions that affect the nervous system, providing an early indication of underlying neoplasm, including dermatomyosistis, neuropathic itch, and brachioradial pruritus. In this article, we review the major cutaneous findings in patients with tumors of the brain, spine, and peripheral nervous system focusing on (1) cutaneous manifestations of genetic and sporadic primary nervous system tumor syndromes, and (2) paraneoplastic neurological syndromes with prominent cutaneous features.