Síndrome antissintetase: anti-PL-7, anti-PL-12 e anti-EJ

ObjectivesDue to the scarcity of studies in the literature, we conducted an analysis of a series of patients with the anti-PL-7, PL-12 and EJ types of antisynthetase syndrome (ASS).MethodsWe conducted a retrospective cohort study of 20 patients with ASS (8 with anti- PL-7, 6 with PL-12, 6 with EJ) monitored in our department between 1982 and 2012.ResultsThe mean patient age at disease onset was 38.5 ± 12.9 years, and the disease duration was 4.5 ± 6.4 years. Of all the patients, 70% were white and 85% were female. Constitutional symptoms occurred in 90% of cases. All patients presented objective muscle weakness in the limbs; in addition, 30% were bedridden and 65% demonstrated high dysphagia at diagnosis. Joint and pulmonary involvement and Raynaud's phenomenon occurred in 50%, 40% and 65% of cases, respectively, with more than half of the patients presenting incipient pneumopathy, ground-glass opacity and/or pulmonary fibrosis. There were no cases of neurological and/or cardiac involvement. All patients received prednisone or other immunosuppressants depending on tolerance, side effects and/or disease refractoriness. Importantly, patients with the anti-EJ type of ASS demonstrated higher rates of recurrence. Two patients died during follow-up, and 1 patient had breast cancer at the time of diagnosis.ConclusionsASS (anti-PL-7, PL-12 and EJ) was found to predominantly affect white women. Although the autoantibodies described in the present study are more related to pulmonary than joint involvement, our patients showed a significant percentage of both types of involvement and a high percentage of myopathy. We also observed a low mortality rate.     

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.     

Non-Traumatic Myositis Ossificans in the Lumbosacral Paravertebral Muscle

Myositis ossificans (MO) is a benign condition of non-neoplastic heterotopic bone formation in the muscle or soft tissue. Trauma plays a role in the development of MO, thus, non-traumatic MO is very rare. Although MO may occur anywhere in the body, it is rarely seen in the lumbosacral paravertebral muscle (PVM). Herein, we report a case of non-traumatic MO in the lumbosacral PVM. A 42-year-old man with no history of trauma was referred to our hospital for pain in the low back, left buttock, and left thigh. On physical examination, a slightly tender, hard, and fixed mass was palpated in the left lumbosacral PVM. Computed tomography showed a calcified mass within the left lumbosacral PVM. Magnetic resonance imaging (MRI) showed heterogeneous high signal intensity in T1- and T2-weighted image, and no enhancement of the mass was found in the postcontrast T1-weighted MRI. The lack of typical imaging features required an open biopsy, and MO was confirmed. MO should be considered in the differential diagnosis when the imaging findings show a mass involving PVM. When it is difficult to distinguish MO from soft tissue or bone malignancy by radiology, it is necessary to perform a biopsy to confirm the diagnosis.     

Fibrodysplasia ossificans progressiva in a young adult with genetic mutation: Case report

Rationale:Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder characterized by congenital skeletal deformities and soft tissue masses that progress into heterotopic ossification. Deformities of the great toes are distinctive and heterotrophic ossification usually begins in the first decade of the patient''s life. Any invasive procedure could potentially trigger a flare and heterotopic calcification. The diagnosis is difficult and there is no effective treatment for FOP and the approximate life expectancy is 4 decades.Patient concerns:A 22-year-old male patient who had suffered from pain and movement limitations for 14 years. At the early stage of disease, the child underwent an operation on both thighs with a diagnosis of myophagism. He had serious stiffness and multiple bony masses with the characteristic bilateral hallux valgus deformity and microdactyly.Diagnoses:The patient was diagnosed with FOP by the help of characteristic great toe malformations and widespread heterotopic ossification throughout the body. Deoxyribonucleic acid sequencing demonstrated that the patient had a de novo heterozygous mutation (c.617G>A; p.R206H) in activin A receptor/activin-like kinase 2.Interventions:We administered a co-therapy of glucocorticoids, NSAIDs to relieve pain, and montelukast for 2 months. Bisphosphonate (5 mg, intravenous) was used once.Outcomes:At the follow-up 12 months later, the patient still felt low back pain sometimes and need take NSAIDs three times a week.Lessons:Clinicians and radiologists should realize the characteristic features of FOP and early diagnosis can prevent additional invasive harm to the patient.     

Pediatric myositis ossificans mimicking osteosarcoma

Myositis ossificans (MO) is a rare benign cause of heterotopic bone formation in soft tissue that most commonly affects young adults, typically following trauma. We report the case of an 11‐year‐old girl who developed MO mimicking osteosarcoma in her right shoulder. Plain radiography and computed tomography showed poorly defined flocculated densities in the soft tissue and a periosteal reaction along the proximal humerus. On magnetic resonance imaging, the mass displayed an ill‐defined margin and inhomogeneous signal change. Histologically, the mass had a pseudosarcomatous appearance. Based on these findings, the patient was initially misdiagnosed with osteosarcoma at another hospital. The diagnosis was difficult because the patient was 11 years old and had no trauma history, with atypical radiographic changes and a predilection for the site of origin for osteosarcomas. We finally made the correct diagnosis of MO by carefully reviewing and reflecting on the pathological differences between stages.     

Sonographic diagnosis of neuritis ossificans of the median nerve

We report the sonographic appearance of a rare case of neuritis ossificans of the median nerve at the wrist, which appeared as a hyperechoic lesion around the nerve. Diagnosis was confirmed with magnetic resonance imaging (MRI).     

运动损伤所致骨化性肌炎临床与病理分析

目的：探讨运动损伤所致骨化性肌炎的临床和病理特征。方法分析12例骨化性肌炎患者的临床和病理学资料。结果12例患者均有外伤史。其中,下肢软组织6例,上肢和腰背部各2例,臀部和颈部各1例。光镜下显示特征性的区带结构,为位于中央的纤维细胞和周边的骨组织增生;免疫组化染色显示细胞阳性表达平滑肌肌动蛋白、肌动蛋白、波形蛋白。结论骨化性肌炎是局限性、自限性的修复性病变,好发于四肢软组织;早期病变应注意与骨外骨肉瘤、指趾纤维骨性假瘤、骨纤维结构不良等鉴别。     

骨化性肌炎的多模态影像学表现

目的:探讨骨化性肌炎的X线、CT、MRI、SPECT/CT的特征性表现。方法:回顾性分析56例经病理或随访证实为骨化性肌炎患者的影像学资料,总结其影像学特征,探讨该病的鉴别要点及诊断价值。结果:56例中,位于髋关节23例,肘关节18例,其他部位15例。早期病变12例,CT或MRI表现为软组织水肿、肿胀,无明显骨化成分,可合并邻近骨骼的骨膜反应;中期病变23例,表现为软组织内分层状肿块,病灶中心呈软组织密度或信号,病灶周围呈蛋壳样、絮状骨化影,SPECT/CT表现为病灶整体显像剂异常摄取;晚期病变21例,表现为边界清楚的骨化团块,SPECT/CT显像15例,其中3例未见显像剂摄取,6例病灶中央显像剂摄取,6例病灶周围显像剂不均匀摄取。结论:骨化性肌炎早期缺乏影像学特征,中期蛋壳样骨化是其特征表现,晚期的骨化团块可表现为不同形式的显像剂摄取,多模态影像学的综合应用可提高其临床诊断价值。     

Impaction bone grafting with freeze-dried irradiated bone. Part I. Femoral implant stabilityCadaver experiments in a hip simulator

Processed freeze-dried irradiated allografts seem to be used less than instead of fresh-frozen allografts for impaction bone grafting in revision hip arthroplasties. Although biologically acceptable, their use is discouraged because of their questionable mechanical properties following freeze-drying and irradiation procedures. To address this question, we impacted freeze-dried grafts in 6 cadaveric femurs and loaded with a cemented Charnley prosthesis. The routinely used fresh-frozen allografts were used as controls in the contralateral side. These constructs were compared simultaneously in a walking hip simulator for their stability during 900,000 loading cycles. The mechanical parameters were axial inducible displacement and subsidence of the implant. The former parameter was lower in the implant mounted on freeze-dried impacted grafts than that mounted on the fresh-frozen bone. The latter parameter was also lower in the freeze-dried group. At the end of the test, we found no implant loosening in either group and their pull out resulted in cement-prosthesis debonding, which showed the mechanical integrity of the impacted grafts. Freeze-dried grafts provide more stable fixation of the stem than fresh-frozen morselized grafts, when tested in a hip simulator.