抗核基质蛋白2抗体阳性炎性肌病临床及病理分析

目的探讨抗核基质蛋白2(NXP2)抗体阳性炎性肌病患者的临床表现、肌肉病理特点和治疗。方法回顾性分析就诊于我院的4例抗NXP2抗体阳性炎性肌病患者的临床表现、肌肉病理改变和治疗方法。结果 4例患者均出现对称性四肢近端无力,2例出现皮肌炎样皮疹,3例出现吞咽困难,2例出现肢体水肿。3例血清肌酸激酶显著升高,1例正常;4例肌电图均为肌源性损害;4例下肢肌肉磁共振显示肌肉及筋膜组织水肿信号;4例血清抗NXP2抗体阳性。肌肉病理3例表现为束周萎缩,血管周围和肌束膜炎性细胞浸润;1例表现为间质水肿。4例患者均给予糖皮质激素治疗,随访3例患者好转,1例出院后意外死亡。结论抗NXP2抗体阳性炎性肌病以皮肌炎为主要临床表现,多伴有吞咽困难和肢体水肿,肌肉磁共振显示肌肉及筋膜水肿信号;主要病理特点为束周萎缩;糖皮质激素治疗效果较好。     

特发性炎性肌病的相关特异性抗体的研究进展

特发性炎性肌病(IIM)主要包括多肌炎、皮肌炎和免疫性坏死性肌病等。近年来已在青少年和成人IIM中鉴定出不同的抗体,例如抗Jo-1抗体、抗NXP2抗体、抗MDA5抗体和抗HMGCR抗体等。这些抗体阳性的IIM可表现出不同的临床、病理表现,并且可以帮助临床医生区分更精确的亚型,从而指导治疗及评估预后。     

免疫介导性坏死性肌病的临床、病理资料分析

回顾性分析2017年1月1日至2020年6月30日该院确诊为免疫介导性坏死性肌病患者14例,总结并分析其临床特征、肌肉病理及肌炎抗体谱等.14例患者多为中年发病,女性多见,急性或亚急性病程.临床表现主要为肌无力,可累及四肢近端肌肉、颈屈肌、咀嚼肌;可伴有皮疹、口腔溃疡、口干、眼干、间质性肺病等多系统受累.肌酸激酶中重度升高.肌电图表现为肌源性损害.肌炎抗体检测主要为抗信号识别颗粒抗体和抗3-羟基-3-甲基戊二酰辅酶A还原酶抗体阳性.肌肉病理表现为弥漫或散在分布的肌纤维坏死、吞噬和再生现象,无或少量炎症细胞浸润.免疫组织化学染色可见CD68+巨噬细胞浸润为主.免疫介导性坏死性肌病的临床表现复杂,可累及多个系统,需要多学科联合诊治.除了常规辅助检查外,肌炎抗体谱检测在该病中非常重要,有利于诊断.     

血清抗Jo-1抗体和抗核抗体与多发性肌炎患者心、肺损害的关系

目的 探讨血清抗Jo-1抗体和抗核抗体(ANA)与多发性肌炎(PM)患者心、肺损害的关系.方法 将52例PM患者根据是否伴心肺损害分为PM伴肺部损害组(14例)、伴心脏损害组(21例)和无心肺损害组(17例),分别检测血清抗Jo-1抗体和ANA,并进行比较.结果 PM伴肺部损害组血清抗Jo-1抗体阳性率(42.9%)明显高于无心肺损害组(5.9%)(P＜0.01);血清ANA阳性率PM伴心脏损害组(76.2%)及PM伴肺部损害组(71.4%)明显高于无心肺损害组(35.2%)(P＜0.01,P＜0.05).结论 血清抗Jo-1抗体可能与PM伴肺部损害及血清ANA可能与PM伴心、肺损害有关.     

抗信号识别颗粒抗体阳性肌病的一例报道

<正>抗信号识别颗粒(signal recognition particle,SRP)抗体阳性肌病是一种以出现血清抗SRP抗体为特点的免疫性坏死性肌病。目前国际上有关此类病例的报道不超过100例,国内完整病例报道尚不多见。现对1例抗SRP抗体阳性肌病的临床表现、病理特点、治疗反应及预后情况进行报道,以供临床借鉴。1病例报告患者男性,50岁,主因"吞咽困难半年、四肢     

3例中央核肌病的临床和病理特点

目的 报道3例中央核肌病的临床和病理特点，讨论其分类和可能的发病机制。方法 3例患儿均在生后发病，表现为运动发育延迟和骨骼畸形，肌无力随年龄的增加而逐渐好转，肌酶正常或轻度升高，肌电图呈肌源性损害。对3例患者进行肌肉活检，肌肉活检标本做组织学和酶组织化学染色。结果 肌肉病理发现在许多肌纤维的中心出现单个的肌核(15％一31％)，主要累及Ⅰ型肌纤维，伴随Ⅰ型纤维呈病理性占优势和Ⅰ型肌纤维发育不良为主的肌型比例失调(Ⅰ型肌纤维直径显著小于Ⅱ型肌纤维)。结论 肌肉活检证实这3例患者为中央核肌病，可能属于预后良好的常染色体隐性遗传型。中央核肌病可以出现腓肠肌肥大、肌型比例失调以及Ⅰ型肌纤维病理性占优势是此病常见的病理改变。     

Nonaka肌病临床病理及肌肉磁共振特点分析

目的探讨Nonaka肌病的临床、肌肉病理及肌肉磁共振特点。方法入选2例患者,女性1例,男性1例,临床表现均以双下肢远端肌肉无力、萎缩为主,双上肢仅轻度受累。血清肌酸激酶轻度升高,肌电图提示肌源性损害,神经传导速度均正常。对患者完善大腿及小腿肌肉磁共振检查,并予以左上肢肱二头肌活检,进行组织学、酶组织化学及免疫组织化学染色,抽取外周静脉血2mL送基因公司进行遗传性肌肉病相关基因测序。结果肌肉病理提示,肌纤维肥大、萎缩、再生,肌纤维内可见镶边空泡,符合肌病样病理改变。肌肉MRI提示,大腿股四头肌脂肪化程度较轻,尤其是股外侧肌未受累及,大腿后组肌群及小腿胫前肌、胫后肌脂肪化程度严重。基因结果均提示GNE基因突变。结论 Nonaka肌病是一种与GNE基因突变相关的常染色体隐性遗传性远端肌病,临床表现特点为胫前肌首先受累,而股四头肌早期不受累。病理改变特点为肌纤维内镶边空泡形成。肌肉MRI可提示肌肉脂肪化的程度及分布规律,为诊断提供依据。     

抗信号识别颗粒抗体阳性坏死性肌病研究进展

以抗信号识别颗粒（SRP）抗体阳性为标志的坏死性肌病,因其起病急、病情重、进展快,单用类固醇激素疗效差,成为近年特发性炎性肌病领域中备受关注的热点。本综述回顾了近年来国内外坏死性肌病相关文献,分析SRP＋NM与IMNM临床表现及病理改变的异同,阐述SRP抗原免疫原性改变和线粒体能量代谢异常两因素在坏死性肌病致病机制中的作用,认为抗SRP抗体的早期检测有益于SRP＋NM的针对性治疗及预后。     

自身抗体在诊断特发性炎性肌病中的临床意义

炎性肌病是一组以肢体近端肌肉无力和横纹肌非化脓性炎性改变为特点的异质性疾病。以多发性肌炎（PM）和皮肌炎（DM）为代表，表现为对称性肢带肌、颈肌及咽肌无力，常累及多脏器，可伴发肿瘤和其他结缔组织病。目前以炎性肌病作为这一类疾病的总称，而多发性肌炎、皮肌炎只是特发性炎性肌病（idiopathic inflammatory myopathy，IIM）中的亚型（表1）。某些自身抗体与特发性炎性肌病的部分临床表现密切相关，在其诊断和分型中具有重要意义，笔拟就各种不同免疫学指标在特发性炎性肌病的诊断和分类中的临床意义进行综述。[第一段]     

Canine inflammatory myopathy: analysis of cellular infiltrates

Inflammatory myopathies (IMs) occur relatively frequently in dogs, and, with the exception of masticatory muscle myositis (MMM), have not been characterized. This study analyzed the distribution and types of cellular infiltrates in 21 cases of generalized IM, 3 cases of focal IM (MMM), and 1 case with features of both generalized and focal IM, using a panel of monoclonal antibodies to cell surface markers. In generalized IM, mononuclear cells showed an endomysial and perimysial distribution with invasion of non-necrotic fibers similar to human IM. T lymphocytes with T-cell receptor (TCR)alphabeta predominated. Distinct differences were seen in MMM including prominent B-cell infiltration, dendritic cells and macrophages in greater numbers than T cells, and numerous T cells with TCRgammadelta. Thus, generalized IM and MMM appear to be distinct diseases with different mechanisms. Canine generalized IM may be an important animal model for human IM.     

A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy

Dysferlinopathy, a progressive muscular dystrophy, results from mutations in the Dysferlin gene (DYSF, MIM*603009). Traditional diagnosis relies on the reduction or absence of dysferlin. However, altered dysferlin has been observed in other myopathies, leading to a precise diagnosis through molecular genetics. In this study, we report a patient who was previously misdiagnosed as inflammatory myopathy based on routine clinicopathological examinations alone. However, muscle biopsy specimens were analyzed further by immunohistochemistry of muscular dystrophy‐related proteins, and gene‐targeted next generation sequencing (NGS) was used to correctly identify muscular dystrophy. DNA was sequenced with NGS and the detected mutation was verified by Sanger sequencing. Our targeted NGS found a novel missense mutation (c.5392G > A) in the DYSF gene, allowing correct diagnosis of LGMD2B in our patient. We discovered of a novel missense mutation in the DYSF gene and have broadened the DYSF mutation spectrum, which may be correlated in patients with presumed dysferlinopathy, especially when lymphocytic infiltration is observed.     

Thigh magnetic resonance imaging for the evaluation of disease activity in patients with idiopathic inflammatory myopathies followed in a single center

Introduction: In patients with idiopathic inflammatory myopathies (IIM), magnetic resonance imaging (MRI) has been proposed as a useful tool for diagnosis and follow‐up. It may identify muscle inflammation (edema) and fatty infiltration for evaluation of disease activity and damage. Little information is available on the role of MRI in assessment of large cohorts of adult patients with IIM. Methods: Fifty‐one patients underwent MRI of the thigh muscles, laboratory tests, and clinical evaluation, including Physician Global Assessment (PGA) of myositis activity and the Manual Muscle Test 8 (MMT8). Results: Muscle edema correlated significantly with creatine kinase values (P = 0.017) and PGA (P < 0.001). A significant correlation between edema and MMT8 values (P = 0.025) was observed when patients with muscle fatty infiltration were excluded. With respect to clinical diagnosis, the sensitivity of MRI was 92.3%, and specificity was 83.3%. Conclusions: MRI appears to provide additional information that complements clinical and biochemical examinations. Muscle Nerve 54 : 666–672, 2016     

Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: A possible role of fibroblast growth factor 2

Scleromyxedema (SME) is characterized by widespread waxy papules on the skin, with mucin deposits in the upper dermis. Twenty-one SME cases of myopathy have been reported; of the cases, six showed vacuolar formation, and two showed mucin deposition. We report the first case of SME with mucin-associated vacuolated fibers. A 45-year-old woman with SME developed progressive proximal muscle weakness. Muscle biopsy revealed myopathic changes with numerous vacuoles linked to mucin in the affected muscle fibers, which were heavily immunostained for fibroblast growth factor 2 (FGF2). Despite repeated high dose oral prednisolone and intravenous immunoglobulin administrations, muscle weakness recurred continuingly, culminating in death due to congestive heart failure. Immunotherapy was partly effective in our case, although it was refractory. Treatment responsiveness in patients with SME myopathy varied; however, due to its rarity, the mechanism remains to be elucidated. To address this issue, we investigated muscle specimens immunohistochemically and detected marked upregulation of FGF2 in the affected muscle fibers of our patient. FGF2, a strong myogenesis inhibitor, may exert a suppressive effect on muscle fiber regeneration, which may have conferred refractoriness to our patient's SME myopathy.     

Clinical Implications of Basilar Artery Plaques in the Pontine Infarction with Normal Basilar Angiogram: A High-Resolution Magnetic Resonance Imaging Study

Background

Using high-resolution magnetic resonance imaging (HR-MRI), we investigated the impact of basilar artery plaques that were not detected by magnetic resonance angiography (MRA) on the functional outcomes of patients with acute pontine infarction.