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。     

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.     

The fibrodysplasia ossificans progressiva lesion

Clinically, the lesions in fibrodysplasia ossificans progressiva (FOP) follow spontaneous or injury-induced exacerbations and are characterized by painful swellings in soft connective tissue that progress to form mature heterotopic bone. Heterotopic ossification (HO) progresses in characteristic anatomic and temporal patterns, and the location of HO dictates the severity of functional consequences. The histological stages of lesion formation are well described and include, in order of progression: perivascular lymphocytic infiltration (stage 1A), lymphocytic migration into affected muscle and myonecrosis (stage 1B), early reactive fibroproliferation (stage 1C), intense fibroproliferation, neovascularity, and angiogenesis (stage 2A), cartilage formation (stage 2B), and endochondral bone formation (stage 2C). Possible mechanisms for FOP lesion formation, including the origin of bone-forming cells, are discussed.     

Soft tissue osteochondroma

Three cases of benign soft tissue osteochondroma, a lesion of uncertain pathogenesis, are reported. Two cases were located in the subcutaneous tissues beneath the calcaneus. The other was located in the soft tissues near the left ankle joint. The diagnosis of soft tissue osteochondroma should be considered when a well-defined osseous mass is located in the soft tissues. the differential diagnosis includes myositis ossificans, tumoral calcinosis, synovial chondromatosis, and soft tissue osteosarcoma.     

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.