This study aimed to assess and compare the ultrasonographic (US) pathologic findings in patients with polymyalgia rheumatica (PMR) and bilateral frozen shoulder (FS). We included 19 patients with clinically diagnosed PMR and 19 patients with stage II bilateral FS. The US evaluation included the assessment of subacromial-subdeltoid (SASD) bursitis, long head of biceps (LHB) tenosynovitis, and posterior and inferior glenohumeral (GH) synovitis. Unilateral SASD bursitis was noted significantly more frequently in PMR patients than in bilateral FS patients (p = 0.001). There were no significant differences in the incidence of unilateral LHB tenosynovitis and posterior GH synovitis between PMR and bilateral FS patients (p = 0.108 and p = 0.304, respectively). Unilateral inferior GH synovitis was more common among bilateral FS patients than among PMR patients (p < 0.001). Bilateral SASD bursitis and LHB tenosynovitis were noted significantly more frequently in PMR patients than in bilateral FS patients (p < 0.001 and 0.049, respectively). Significant differences were not observed in the incidence of bilateral posterior GH synovitis between PMR and bilateral FS patients (p = 0.426). Bilateral inferior GH synovitis was more common among bilateral FS patients than among PMR patients (p = 0.044). The US evidence for bilateral inferior GH synovitis without bilateral SASD showed high specificity (94.7%) with sensitivity (78.9%) for the diagnosis of bilateral FS. SASD bursitis, representing periarticular synovial inflammation, was more common among the patients with PMR than among the patients with bilateral FS. Inferior GH synovitis without SASD bursitis suggests FS rather than PMR in patients with bilateral shoulder pain.
Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Therefore, early diagnosis and rehabilitation of Duchenne muscular dystrophy are needed before symptom aggravation. Creatine kinase is a diagnostic marker of neuromuscular disorders. Herein, the authors report a case of an infant patient with Duchenne muscular dystrophy with a highly elevated creatine kinase level but no obvious symptoms of muscle weakness. The patient was diagnosed with Duchenne muscular dystrophy via next-generation sequencing and chromosomal microarray analysis to identify possible inherited metabolic and neuromuscular diseases related to profound hyperCKemia. The patient is enrolled in a rehabilitation program and awaits the approval of the genetic treatment in Korea. This is the first report of an infantile presymptomatic Duchenne muscular dystrophy diagnosis using next-generation sequencing and chromosomal microarray analysis.
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