The evaluation of eye pain with a normal ocular exam

Eye pain with or without associated head or face pain is a common complaint to the ophthalmologist. The ocular exam may reveal the etiology (e.g., corneal disease, angle closure glaucoma) but typically the exam is normal. This paper reviews the evaluation and management of eye pain with a "normal" ocular exam, including: 1) subtle findings on ocular exam; 2) transient findings on exam, and 3) no abnormal ocular findings. Ophthalmologists should be aware of the various etiologies for eye pain and the specific and distinctive features that make the diagnosis.     

Fibrodysplasia ossificans progressiva. An unusual cause of restricted mandibular movement

A 9-year-old girl is presented who was initially misdiagnosed and finally diagnosed with fibrodysplasia ossificans progressiva only after presentation with progressive limitation of her mouth opening. The clinical, histopathological, and molecular biological aspects of this uncommon disorder will be discussed. Furthermore, dental and surgical guidelines will be described.     

Calcitriol dosage in osteomalacia,hypoparathyroidism and attempted treatment of myositis ossificans progressiva

Summary

Mineral retention was measured during 39 metabolic balance studies in 34 patients with nutritional osteomalacia or late rickets; they were divided into 5 treatment groups consisting of oral vitamin D, artificial ultra-violet irradiation, 25-hydroxychole-calciferol {calcifediol), 1 α-hydroxycholecalciferol (alfacalcidol) and 1α,25-dihydroxy-cholecalciferol (calcitriol). With the 1 α-hydroxylated derivatives, initial dosage of 2 to 6 μg daily was required to achieve optimal healing rates by comparison with other responses. Mineral retention was markedly enhanced by supplementation with micro-crystalline hydroxyapatite compound (MCHC); untreated X-linked hypophosphataemic rickets healed in 7 weeks on 10 μg alfacalcidol daily and 6?g MCHC daily without developing hypercalcaemia. By contrast, adult-presenting hypophosphataemic osteomalacia developed early hypercalcaemia on the same treatment; additional phosphate supplementation, without changing other treatment, abolished hypercalcaemia and improved calcium retention. A long-term crossover trial of the vitamins D in 6 patients with hypoparathyroidism suggested that relative potencies were as follows {assigning to vitamin D an arbitrary potency of 1): vitamin D₂ (or D₃) 1: dihydrotachysterol (DHT) 3: calcifediol 10: alfacalcidol 750: calcitriol 1500. The two-fold superiority of calcitriol over alfacalcidol was evident. Calcifediol and vitamin D controlled plasma calcium at comparable levels of circulating 25-hydroxyvitamin D (25-OH-D), elevated 25-OH-D persisting at least 1 to 2 years after discontinuing long-term (>4 years) vitamin D. In 2 patients with myositis ossificans progessiva treated with 10 to 20 μg calcitriol daily, hypercalcaemia was minimized by a low-calcium diet supplemented with cellulose phosphate, suggesting that bone resorption did not play a major role in vitamin D intoxication. Net mineral loss was documented in a young male patient but not in a menopausal female, suggesting that calcitriol treatment was not likely to produce post-menopausal osteoporosis.     

局限性骨化性肌炎的X线、CT表现

目的了解局限性骨化性肌炎的X线平片和CT影像学表现。方法回顾性分析15例经手术、病理或随访证实为骨化性肌炎患者的影像学资料。结果15例X骨化性肌炎中,发生于肩关节2例、肘关节2例、髋关节7例、胫腓骨近段1例、股骨远段2例、足跖骨周围1例,所有病例均为单发。影像学分为3期,在不同时间,X线和CT表现各有异同。急性水肿期（早期）3例,X线表现为软组织内条片状或分层状骨化影,CT表现周围软组织内片状钙化,边界不清。增殖肿块期（中期）9例：X线表现为软组织内骨性致密影,CT表现为分层状“蛋壳”样骨化。骨化修复期（晚期）3例,X线表现为周围软组织内致密影,周围软组织被推压移位,CT表现为周围软组织内大团状高度致密影,与局部骨皮质分界不清。CT增强扫描示肿胀软组织无强化,无软组织肿块。结论X线平片和CT影像学表现有一定特点。如缺乏特征性表现,难与骨恶性肿瘤鉴别时,可做MR／检查,提高诊断的准确率。     

Pregnancy and autoimmune connective tissue diseases

Autoimmune connective tissue diseases predominantly affect women and often occur during the reproductive years. Thus, specialized issues in pregnancy planning and management are commonly encountered in this patient population. This chapter provides a current overview of pregnancy as a risk factor for onset of autoimmune disease, considerations related to the course of pregnancy in several autoimmune connective tissue diseases, and disease management and medication issues before pregnancy, during pregnancy, and in the postpartum period. A major theme that has emerged across these inflammatory diseases is that active maternal disease during pregnancy is associated with adverse pregnancy outcomes, and that maternal and fetal health can be optimized when conception is planned during times of inactive disease and through maintaining treatment regimens compatible with pregnancy.     

免疫介导坏死性肌病的临床和病理特征分析

目的 比较不同肌炎特异性自身抗体(myositis specific antibodies,MSAs)类型的免疫介导坏死性肌病(immune-mediated necrotizing myopathies,IMNM)的临床和病理特征。方法 从中日友好医院2008—2018年住院期间所有行肌肉活检的特发性炎性肌病患者中选取符合以下任一条件的IMNM患者104例:(1)抗信号识别颗粒(signal recognition particle,SRP)抗体阳性;(2)抗3-羟基-3-甲基戊二酰辅酶A 还原酶(3-hydroxy-3-methylglutaryl-coenzyme A reductase,HMGCR)抗体阳性;(3)血清MSAs阴性且病理符合2004年欧洲神经肌肉病中心定义的IMNM病理诊断标准。回顾性收集患者的临床、实验室检查和肌肉病理等信息,比较各组临床及病理特征的差异。结果 所有104例IMNM患者中,肌无力(92.3%)、肌酸激酶升高(92.3%)是IMNM的最常见临床表现,此外,33.7%的IMNM患者合并吞咽困难,46.5%的患者合并间质性肺病(interstitial lung diseases,ILD)。抗HMGCR阳性患者较抗SRP阳性和MSAs阴性患者更容易出现V形疹(30.4% vs. 4.3%和5.9%,P<0.01),抗SRP阳性患者合并ILD发生率高于抗HMGCR阳性和MSAs阴性患者(64.4% vs. 34.8%和29.0%,P<0.01),MSAs阴性患者合并其他结缔组织病更多见(32.4% vs. 8.5%和4.3%,P<0.01)。3组IMNM患者肌肉病理中均可见肌细胞坏死(94.2%)、吞噬(65.4%)和再生(67.3%),肌细胞膜表达主要组织相容性复合物-Ⅰ分子上调(78.8%),肌内膜CD4 ⁺T细胞(68.3%)和CD68 ⁺巨噬细胞(65.7%)浸润。结论 抗SRP抗体阳性、抗HMGCR抗体阳性和MSAs阴性的IMNM患者存在异质性,在临床上开展MSAs检测和肌肉病理检查对区分不同类型的IMNM有指导价值。     

17例中国人有镶边空泡远端肌病临床病理特点及预后随访

目的 探讨17例中国人有镶边空泡远端肌病(DMRV)患者的临床病理特点和部分患者预后情况.方法 对山东大学齐鲁医院神经内科1986至2007年问17例DMRV患者的临床和病理资料进行回顾性分析和总结并对其预后情况进行门诊或电话随访.结果 17例患者中女12例,男5例,平均起病年龄23.1岁.下肢远端肌早期受累,股四头肌受累相对较轻,病情缓慢进展.肌肉病理改变主要为镶边空泡形成,肌纤维坏死和再生少见,电镜观察可见肌浆或肌核内管状细丝包涵体.有11例患者获得了其随访资料,其中10年以上2例,5～10年2例,1～5年5例,1年以内2例.随访结果显示尽管出现于成年早期的始发症状是下肢远端肌的萎缩和无力,但疾病晚期可见全身骨骼肌广泛严重受累,患者丧失行走和生活自理能力,生活质量差.结论 中国人DMRV的临床和病理特点与日本报道的病例基本一致.病情缓慢进展,病后7-10年丧失独立行走能力.就日常生活而言,DMRV的预后是相当差的.     

Magnetic resonance imaging of myositis ossificans: analysis of seven cases

Myositis ossificans typically presents as soft tissue swelling with progressive ossification on radiographs. Since magnetic resonance imaging (MRI) is commonly used to evaluate soft tissue masses, we analyzed eight MR examinations in seven patients with myositis ossificans to determine if typical patterns were present. One acute lesion had homogeneous intermediate signal intensity on T1-weighted images and high signal intensity on T2-weighted images. Two subacute lesions had low signal intensity margins with slightly increased signal intensity centers on T1-weighted images and very high signal intensity on T2-weighted images. Five chronic lesions had two different patterns. All five were well-defined with low signal intensity borders. Three had signal intensity patterns characteristic of fat on T1-weighted and T2-weighted images. The other two lesions had intermediate signal intensity on T1-weighted images and slightly increased signal intensity on T2-weighted images.We conclude that typical MR appearances of myositis ossificans do exist. A low signal intensity rim is a common finding. However, these patterns are not unique to myositis ossificans and resemble those that have been reported in other lesions. It is important to be aware of the spectrum of MR findings of myositis ossificans when considering the differential diagnosis of a soft tissue mass.