ObjectiveTo summarize the clinical manifestations, pathogenesis, diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN-1) so as to improve the understanding of MEN-1.MethodThe clinical data of 1 case of MEN-1 with new mutated gene in the Yantai Yuhuangding Hospital of Medical College of Qingdao University (our hospital) were analyzed retrospectively.ResultsThe patient was a 73-year-old woman, who was admitted to our hospital because of “abdominal pain, diarrhea” for 4 d. After discussion by a multidisciplinary team, MRI of pancreatic, adrenal and pituitary, and endoscopy examinations were performed to further identify the cause of diarrhea. Meanwhile, MEN-1 gene was detected in the peripheral blood of the patient and her relatives, and the result showed that the proband and his daughter had a cytosine deletion at c.1401 in exon 10 of MEN-1 gene, which resulted in frame shift mutation of p.e468r fs, it was confirmed as MEN-1. After 5 d of conservative treatment of the disease, the patient’s family requested discharge and the patient died half a month after discharge.ConclusionsMEN-1 is a rare autosomal dominant inheritable disease, with diverse clinical manifestations and easy misdiagnosis. Therefore, it is necessary to be alert to abnormal indicators in the glands associated with MEN-1, so as to achieve early diagnosis and treatment.
Objective To analyze the clinical characteristics of dermatomyositis ( DM) and polymyositis ( PM) with pulmonary involvement. Methods A retrospective study was performed in 27 DM/PM patients with pulmonary involvement, who were admitted to the First People’s Hospital of Kunming fromJanuary2001 to December 2009. The clinical manifestation, laboratory examination, chest high resolution CT ( HRCT) , pulmonary function test, treatment efficacy and prognosis were analyzed. Results In 27 DM/PM patients with pulmonary involvement, pulmonary manifestations occurred in 23 cases, such as cough ( 44% ) , expectoration ( 30% ) , and dyspnea ( 11% ) . Erythrocyte sedimentation rate, creatine kinase, C-reactive protein, and lactic dehydrogenase were significantly increased in 63% , 67% , 56% , and 44% of patients. Anti-Jo-1 antibody was positive in eight cases ( 29% ) . The electromyogram ( EMG) revealed myogenic changes in all patients. Pulmonary interstitial changes were the predominant HRCT manifestations. Pulmonary function test revealed mainly restrictive ventilation dysfunction and decreased diffusion capacity. Most patients had a good prognosis by glucocorticoid treatment. Conclusions For patients with DM/PM, especially who present nonspecific pulmonary symptoms, chest HRCT and pulmonary function test should be recommended as early screening tools.
ObjectiveTo analyze the incidence of heart disease, its clinical manifestations and risk factors in patients with polymyositis (PM) and dermatomyositis (DM). MethodWe collected the clinical data of 138 PM (n=78) and DM (n=60) patients treated between January 2008 and March 2014, among whom there were 64 males and 74 females with an average age of (48.5±19.6) years old, and an average disease course of (84.5±6.9) months. We analyzed their incidence of heart disease, its clinical manifestations and the risk factors. Subsequently, we adopted single-factor analysis to analyze such factors as age, gender, disease course, kinds of disease, creatine kinase (CK), CK-MB, CK-MB/CK, troponin T, antinuclear antibodies, anti-SSA antibody, erythrocyte sedimentation rate, C-reactive protein, disease activity score, muscle force, pulmonary interstitial lesions and pulmonary artery hypertension. ResultsThere were 59 (42.7%) patients with heart disease, 48 (34.8%) with abnormal electrocardiogram, and 52 (37.7%) with abnormal color Doppler ultrasound results. Logistics multiple factors regression analysis found that the course of the disease (OR=1.669, P=0.010), myositis disease activity score (OR=7.456, P<0.001), pulmonary interstitial lesions (OR=4.568, P=0.014) were risk factor for heart disease in PM/DM patients. ConclusionsLong disease course duration, high myositis activity score and pulmonary interstitial lesions are strong predictors for heart damage in PM/DM patients.
目的：探讨复发型视神经脊髓炎(relapsing neuromyelitis optica，R-NMO)与复发型多发性硬化(relapsingremitting multiple sclerosis，RRMS)患者视神经的MRI影像表现。方法：对临床满足R-NMO最新Wingerchuk等制定的诊断标准及满足最新McDonald诊断标准的RRMS患者，进行脑部、脊髓及视神经的扫描，并将两组复发型患者视神经MRI表现特点，与32位健康自愿者进行对照研究。同时回顾性分析患者的VEP检查结果。结果：41例R-NMO患者MRI检查显示患者均有单侧或双侧视神经鞘膜腔信号明显增高，呈“轨道样”改变，22例患者(53.7%)伴有视神经增粗，或(和)扭曲，17例(41.5%)可看视神经内点状高信号表现。随着病程的延长，15例(36.6%)MRI上可见单侧或双侧视神经萎缩、变细，甚至扭曲。最终35例(80.5%)视神经内见到点状高信号表现。121例RRMS患者中，共81名(66.9%)患者在MRI上见到了视神经的异常表现，主要表现为单侧或双侧视神经鞘膜腔部分节段或全段呈“轨道样”高信号改变，其中23例(28.4%)表现为视神经球球后起始段局限性信号增高，视神经15例(12.4%)伴有视神经的肿胀，但视神经萎缩不及R-NMO患者明显。随着时间延长，12例(9.9%)可见视神经内点状高信号脱髓鞘改变。两组患者P100峰值延迟时间差异具有统计学意义(Plt;0.05)。结论：MRI可以成为视神经炎的首选影像学检查方法。两组患者MRI与VEP检查结果存在一定的差异性，可以成为鉴别诊断的依据。