单纤维肌电图在30例炎性肌病患者诊断中的应用

目的研究单纤维肌电图(SFEMG)在炎性肌病患者诊断中的价值和与其他辅助检查的关系。方法对30例(男9例,女21例)炎性肌病[其中多发性肌炎(PM)20例,皮肌炎10例)]患者进行伸指总肌SFEMG测定,并与常规肌电图(EMG)、血清肌酸激酶(CK)的测定结果及肌肉病理检查结果进行对比。结果30例患者伸指总肌SFEMG测定均异常,主要表现为纤维密度(FD)增高,部分患者伴有轻度的颤抖增宽,仅1例伴有1处阻滞。FD为1～6,平均为2.33±0.45。颤抖值为5～78μs,平均(41.7±10.8)μs;颤抖>55μs者所占百分比为0%～55%。常规EMG表现为肌源性损害21例(70%),神经源性损害2例(6.7%),正常7例(23.3%)。血清CK增高20例。肌肉病理符合PM和DM诊断者13例。结论常规EMG和CK正常及病理未见特征性改变但临床疑诊炎性肌病者,SFEMG的检查为其诊断提供了客观依据。     

Animal models of fibrodysplasia ossificans progressiva

Animal models of fibrodysplasia ossificans progressiva (FOP) are important for understanding the pathophysiology of FOP and for testing possible therapies. Laboratory-generated genetic animal models, each with features of FOP, provide the opportunity to better understand the biology of FOP, and to study the effectiveness and safety of currently available and emerging therapies.     

Three pairs of monozygotic twins with fibrodysplasia ossificans progressiva

Genetic and environmental factors affect the phenotype of fibrodysplasia ossificans progressiva (FOP) but their relative effects are unknown. We studied three pairs of monozygotic twins with FOP and found that, within each pair, congenital toe malformations were identical. However, postnatal beterotopic ossification varied greatly depending on life history and environmental exposure. This study shows that genetic determinants strongly influence disease phenotype during prenatal development and that environmental factors strongly influence postnatal progression of the disease.     

Myositis Ossificans Progressiva:: Clinical and Metabolical Observations in a Case Treated with a Diphosphonate (EHDP) and Surgical Removal of Ectopic Bone

A 20-year-old woman with a severely crippling myositis ossificans progressiva was treated with a diphosphonate (EHDP), 10-20 mg/kg/day. While being treated with this drug, surgical removal of ectopic bone was performed. Although ectopic calcification recurred postoperatively, considerable functional improvement was achieved. At the highest dosage of EHDP, hypercalcaemia gradually appeared, but was reversible upon cessation of drug treatment. It is probably related to a direct effect of EHDP on the bone.     

Spinal arachnoiditis ossificans

Summary The histories of two patients with arachnoiditis ossificans leading to severe neurological impairment are presented. Analysis of these cases highlights the importance of three-dimensional (3 D) computed tomography (CT) scanning for the establishment of the diagnosis and in postoperative assessment of this rare disease, whereas magnetic resonance imaging (MRI) is less useful. The neurological function in both cases improved following re-exploration operations in which the whole length of the dural sac covering the intradural ossific lesions was freed totally from external obstructions imposed by the covering laminae.     

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.     

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.     

Myo-Spain: Registro de pacientes con miopatía inflamatoria idiopática de España. Metodología

ObjectivesTo describe the methods of the Spanish Registry of patients with idiopathic inflammatory myopathy (IIM) (Myo-Spain), as well as its strengths and limitations. The main objective of the project is to analyse the evolution and clinical management of a cohort of patients with IIM.MethodsObservational, longitudinal, ambispective and multicentre study of a cohort of patients with IIM seen in rheumatology units in Spain. All patients with a diagnosis of IMM will be included in the regular follow-up of the participating centres, regardless of age on initiation of the process. Incident cases will be all patients who at the beginning of the study have been diagnosed for less than 12 months and prevalent cases for more than 12 months. The registry will include data from the visit at baseline, one year and two years. Socio-demographic, clinical, analytical variables, complications, comorbidities, association with other rheumatic diseases, hospital admissions, mortality and treatments will be collected. In addition, indices, scales and questionnaires of activity, muscle involvement, damage, disability, and quality of life will be determined. The recruitment period will be 23 months. The purpose is to obtain a cohort of 400 patients with IMM.ConclusionsMyo-Spain registry provides the opportunity to develop a cohort of incident and prevalent patients with IMM in Spain. Myo-Spain will be able to assess in detail the clinical characteristics of the disease at different times. The comprehensive information collected during the visits is expected to provide a broad source of data for future analysis.     

Rationale and efficacy of CD52 targeting in HTLV-1-associated myositis

We retrospectively analysed two selected patients, referred to our Haematology Department for refractory HTLV-1 associated myositis with circulating pathologic T-cell population with ATL phenotype. They respectively presented also HTLV-1 associated Crohn-like disease and myelopathy. Muscle biopsy of both patients was analysed to determine the pathologic infiltrate. Alemtuzumab was proposed as salvage therapy. Targeting CD52 with alemtuzumab showed good efficacy on myopathy of both patients for respectively 11 and 10 months. Interestingly, this treatment showed also efficacy on circulating pathologic T-cell population and on concomitant digestive and neurological diseases. The double infected cells ablation and immunosuppressive propriety of alemtuzumab probably explains its interest in this infectious and dysimmunitary disorder. Even though alemtuzumab probably remains a suspensive treatment, its place should be assessed in controlled trial in this difficult to treat rare disease.