家族性肥厚型心肌病心肌肌钙蛋白T2基因突变特点:14例分析

目的:对14例家族性肥厚型心肌病患者第2～16号外显子进行扫描,试图发现在这一范围上有无基因突变位点。方法:选择2002-01/2006-12苏州大学附属第一人民医院心内科门诊及住院的肥厚型心肌病患者14例,年龄16～62岁。均符合WHO/ISFC1996年肥厚型心肌病诊断标准;汉族;无血缘关系;每例患者家族中至少两人发病;均对检测项目知情同意。对受试对象的聚合酶链反应扩增产物进行单链构象多态性分析,于肌钙蛋白T2基因第2～16外显子范围内寻找突变位点,并了解基因型明确的肥厚型心肌病患者的临床特点。之前,均已对该14例先证者的β-肌球蛋白重链基因3～26号外显子进行突变基因筛查,未见异常。结果:14例临床确诊的家族性肥厚型心肌病患者肌钙蛋白T2基因第2～16外显子,除10例患者106位密码子存在ATC-ATT多态性外,未发现基因位点的异常。结论:在中国汉族人群家族性肥厚型心肌病患者未发现肌钙蛋白T2基因突变类型。     

Linear IgA bullous dermatosis in South India

Background A study of five cases of linear IgA dermatosis (LABD) in a referral hospital in South India is presented. Methods A dermatologic examination, skin biopsy, and direct immunofluorescence were carried out on all patients. Patients were then followed up. Results All five cases showed linear IgA deposits at the dermo-epidermal junction. One case in addition showed IgG and C3 deposits. All cases responded to treatment with dapsone. The treatment duration varied from 14 to 16 months and the fifth patient is still on treatment after 37 months. Conclusions Linear IgA bullous dermatosis is a self-limiting bullous disorder. To the best of our knowledge this is the first report of LABD from India.     

Short TI inversion-recovery imaging of the liver: pulse-sequence optimization and comparison with spin-echo imaging

Magnitude-reconstructed short inversion-time (TI) inversion-recovery (IR) sequences have the advantage of reducing the signal of fat while providing additive T1 and T2 contrast. A double-echo short TI IR sequence was implemented to offer different degrees of T1- and T2-dependent image contrast. In 50 consecutive patients with proved liver tumors (30 metastases, 13 hemangiomas, seven other primary liver tumors), images obtained with a double-echo IR sequence at a repetition time (TR) of 1,500 msec, echo time (TE) of 30 and 60 msec, and TI of 80 msec (TR/TE/TI = 1,500/30, 60/80) were compared with those obtained with spin-echo (SE) sequences at a TR of 275 msec and a TE of 14 msec (TR/TE = 275/14) and 2,350/60, 120, 180. Metastases-liver contrast-to-noise ratios were highest at SE 275/14, followed by IR 1,500/30/80 and SE 2,350/180. IR 1,500/30/80 and SE 275/14 sequences consistently showed higher sensitivity for the detection of metastases than T2-weighted SE sequences. Differential diagnosis of benign and malignant lesions was more reliable with T2-weighted SE sequences than T2-weighted short TI IR sequences.     

Intracranial non-Hodgkin lymphoma occurring after treatment of Hodgkin disease

Patients with successfully treated Hodgkin disease are at increased risk for the development of second malignancies. We present two cases of intracranial non-Hodgkin lymphoma that appeared following successful treatment of Hodgkin disease. The appearance of the lymphomas on computed tomographic images is shown, and possible predisposing factors, differential diagnosis, and clinical implications are discussed.