Clinical features of a genetically identified spinal and bulbar muscular atrophy pedigree / 中南大学学报(医学版)

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.

Analysis of circulating Th17 cells and regulatory T cells in mynsthenia gravis / 中华神经科杂志

Objective To investigate the percentage of Th17 cells and regulatory T cells in patients with myasthenia gravis (MG) and observe the effects of methylprednisolone infusion on these cells.Methods The circulating Th17 cells and CD4+ CD25highT cells of 66 MG patients and 35 healthy controls were detected using four colour cytometry. The relationship between these cells and MGFA score in 18 MG patients and in 8 MG patients after methylprednisolone was infusion were also analyzed in this study. Results There was significant difference in the percentage of circulating Th17 cells between MG patients (2. 61% ±0. 28% ) and the healthy controls (0. 94% ± 0. 12%, Z = 4. 059, P = 0. 0001 ). Methylprednisolone therapy significantly reduced the percentage of circulating Th17 cells from 4. 72% ± 1.21% to 1.81% ± 0. 69%(Z = 1. 995,P = 0. 0460). In addition, the percentage of Th17 cells showed a positive correlation with MGFA score(r =0. 5359, P =0. 0219). Conclusions Circulating Th17 cells are elevated in MG patients.Methylprednisolone therapy can reduce such elevation, and this may be important in mediating symptomatic improvement in MG patients.

Design Ideas of Hospital Information System / 医学信息学杂志

The paper introduces the ideas of designing hospital information system, including comprehensive cabling, network cover-age, ward calling system, ward monitoring system, queuing management, media teaching, multi -function hall, digital meeting and se-curity system, which would provide reference for the designing and implementation of hospital information system.

实施社保医疗后肺部感染患者的疗效与费用 / 中国康复理论与实践

@#目的探讨实施社保医疗后肺部感染患者的治疗效果与费用。方法随机选择肺部感染的住院患者60例(社保组30例,非社保组30例),社保组根据社保文件精神对患者进行检查治疗,非社保组仍按以往治疗方案并结合患者意愿进行检查治疗,分析两组的疗效与费用。结果社保组的肺部感染住院患者总的直接医疗费用平均为(1540.73±991.43)元,非社保组为 (2232.02±844.98)元;总医疗费用社保组平均为(1716.65±1028.33)元,非社保组为(2653.89±966.39)元;住院天数社保组平均为(11.8±6.42)天,非社保组为(15.3±4.71)天 ,社保组总的医疗费用显著低于对照组(P<0.001),但疗效无显著性差异。结论实施社保医疗可在有效降低肺部感染患者总的医疗费用的同时,保证疗效,真正把有限的医疗资源用在需要的患者身上。

高血压病康复医疗长期随访 / 中国康复理论与实践

@#本文报告52例Ⅰ～Ⅱ期高血压病患者在常规治疗的同时，采用饮食、心理、教育、运动、调息等康复措施进行系统康复医疗。出院后长期接受康复指导，每1～3个月于专科门诊诊查一次，每年系统复查1～2次。同期与25例条件相同单纯采用常规治疗的高血压病患者作对照。至今5～7年。结果显示：康复医疗组患者疗效明显优于对照组。