A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications. Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease. We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum. Both patients were diagnosed as having FOP. This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients. Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients. This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.     

Acute Burkholderia cenocepacia pyomyositis in a patient with cystic fibrosis

IntroductionExtra-pulmonary complications of Burkholderia cepacia complex (Bcc) infection in patients with cystic fibrosis are unusual. To the best of the authors' knowledge no case of pyomyositis secondary to Bcc infection has been reported previously.Case presentationWe report a case of pyomyositis of the forearm caused by Bcc infection in a patient with CF. We also briefly discuss the management of pyomyositis.ConclusionPyomyositis is a potential extra-pulmonary complication of Bcc infection in patients with CF. A high index of clinical suspicion is required to make a prompt diagnosis. Final diagnosis may need MRI. An early diagnosis, aggressive medical therapy, multidisciplinary care and timely surgical intervention are all essential for proper management of this condition.     

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.     

Spinal arachnoid calcifications

Arachnoid calcifications have been imaged on axial-CT and MRI. These often clinically asymptomatic deposits have been attributed to trauma, myelography (particularly with the use of oil-based contrast), subarachnoid hemorrhage, and spinal anesthesia. This report describes calcified arachnoid plaques in an 86-year-old male cadaver located in the dorsal thoracic level. A laminectomy from C4 to the lumbo-sacral junction was performed and the dura mater was transected and pinned aside. Three plaques between T2-T3, 3 at T7, 2 at T9 were noted. Plaques were 1.0 mm in thickness and ranged from 0.5 cm to 1.0 cm in diameter. The spinal cord or nerve roots were not displaced. The plaques stained positively with Von Kossa and Alizarin Red S staining, confirming that the deposits included calcium phosphate and calcium. Arachnoid calcifications are an incidental finding in cadavers and typically do not compress the spinal cord or nerve roots. However such plaques may be precursors to spinal arachnoid ossificans, a more serious condition that may cause spinal cord or nerve root compression.     

The T Cell Receptor (TCR) in HLA-B27-Restricted T Cell Responses - an Introduction

Summary D-penicillamine, an agent still used in the treatment of rheumatoïd arthritis (RA) may produce inflammatory myopathy or myositis. Some reported cases are documented with muscle biopsy. We report a 34-year old female, receiving the drug for more than 4 years, who consulted us with recently developed proximal muscle pain and weakness. EMG-findings were typical for inflammatory muscle disease; muscle enzymes remained normal. D-penicillamine was stopped and she was started on prednisolone with rapid improvement. The EMG-findings, with follow-up within three months, proved to be a good diagnostic tool, in the absence of laboratory muscle enzymes abnormalities.Correspondence to: Algemeen Ziekenhuis Middelheim Dienst Fysische Geneeskunde en Reumatologie Lindendreef 1 2020 Antwerpen, BELGIUM     

Myositis as an adverse event of immune checkpoint blockade for cancer therapy

Objectives

Immune checkpoint inhibitors (ICIs) can successfully treat cancer, but their use can be hindered by serious immune-related adverse events. We report six patients receiving ICIs who presented with de novo myositis.

Thoracic insufficiency syndrome in patients with fibrodysplasia ossificans progressiva

Patients with fibrodysplasia ossificans progressiva (FOP) develop thoracic insufficiency syndrome (TIS), which can lead to life-threatening complications. Features contributing to TIS in patients with FOP include costovertebral malformations with orthotopic ankylosis of the costovertebral joints; ossification of intercostal muscles, paravertebral muscles, and aponeuroses; and progressive spinal deformity, including kyphoscoliosis or thoracic lordosis. Pneumonia and right-sided congestive heart failure are the major life-threatening hazards that result from TIS in patients with FOP. Prophylactic measures to maximize pulmonary function, minimize respiratory compromise, and prevent influenza and pneumonia may be helpful in decreasing the morbidity and mortality from TIS in patients with FOP.     

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。