Prev-DAF试剂盒分析线粒体基因1555A-G突变

目的建立应用标准试剂盒方法检测线粒体基因1555A-G(mtDNA1555A-G)突变的程序,进行母系遗传耳聋家系的基因型分析.方法采用Prev-DAF试剂盒分析14个母系遗传耳聋家系,共检测耳聋患者34个,正常个体11个,并以Alw26酶切和测序方法验证试剂盒检测的准确性.结果Prey-DAF试剂盒检测结果证实13个家系中33个耳聋患者携带有mtDNA1555A-G突变,另1个耳聋家系中的一名耳聋患者不携带此突变,11个正常个体中无此突变,试剂盒检测方法与Alw26I酶切法和测序结果完全吻合.结论在中国,mtDNA1555A-G氨基糖甙类抗生素致聋的家系多,分布广,Prev-DAF试剂盒在分析线粒体基因1555A-G突变方面具有简单、低耗、结果直观的特点,适合在中国用于进行此突变的大规模筛查或预防性检查.     

Normative Reference Values and Validity for the 30-Second Chair-Stand Test in Healthy Young Adults

BackgroundClinicians often use physical performance tests (PPT) to measure performance measures in sports since they are easy to administer, portable, and cost-efficient. However, PPT often lack good or known psychometric properties. Perhaps, the 30-second chair-stand test (30CST) would be a good functional test in athletic populations as it has been shown to demonstrate good psychometric properties in older adults.Hypothesis/PurposeThe purpose of this study was to determine normative values for and concurrent, convergent and discriminative validity of 30CST for healthy young adults aged 19-35 years.Study DesignCross-sectionalMethodsEighty-one participants completed this study. All participants performed two trials of 30CST, 5-times sit-to-stand (5xSTS), and lateral step-up test (LSUT). Investigators used the International Physical Activity Questionnaire Leisure Domain (LD-IPAQ) to divide participants into insufficiently or sufficiently active groups based on the weekly metabolic equivalent of task per the Physical Activity Guidelines for Americans.ResultsParticipants (Mean + SD age, 25.1 ± 3.4 years; body height, 1.71 ± 0.09 m; body mass, 72.6 ± 16.1 kg; females 47) performed an average of 33.0±5.4 30CST repetitions. The 30CST performance was negatively associated with 5xSTS (r=-0.79 p=0.01) and positively associated with LSUT performances (r=0.51, p=0.01) when using Pearson correlations. In addition, the sufficiently active group performed significantly greater 30CST repetitions than the insufficiently active group (mean difference = 2.5; p=0.04).ConclusionsIn addition to finding a reference value for 30CST performance in young adults, investigators found that the 30CST displayed concurrent and convergent validity in assessing functional lower extremity (LE) muscle strength and discriminated between those with sufficient and insufficient physical activity levels. Training and rehabilitation professionals could use the 30CST for testing functional LE muscle strength for athletes in pre-season or during rehabilitation. Future investigators should perform studies to determine if 30CST predicts sport performance.Level of EvidenceLevel 2     

Metastatic Tumors of Unknown Origin: Ancillary Testing in Cytologic Specimens

The application of ancillary studies, such as immunostains, to cytopathology has improved the ability to make accurate diagnoses with precise subclassification. Even with these techniques, there are still aspiration and exfoliative cytology cases for which it remains difficult to definitively determine the source and/or subtype. This article focuses on the well-established and novel ancillary studies used in the modern era of cancer diagnoses in cytopathology, particularly in the diagnostic work-up of metastatic tumors without a known primary.     

The use of a novel tablet application to quantify dysfunction in cervical spondylotic myelopathy patients

Background Context

Despite the prevalence and importance of myelopathy, there is a paucity of objective and quantitative clinical measures. The most commonly used diagnostic tools available are nonquantitative physical exam findings (eg, pathologic reflexes, and gait disturbance) and subjective scoring systems (eg, modified Japanese Orthopaedic Association [mJOA]). A decline in fine motor coordination is a hallmark of early myelopathy, which may be useful for quantitative testing.

甲状旁腺鉴定系统在甲状腺手术中快速鉴定甲状旁腺的临床价值

目的:探讨甲状旁腺鉴定(PGI)系统在甲状腺手术中快速鉴定甲状旁腺的临床价值。方法:收集2016年3月—2018年5月于江苏省原子医学研究所附属江原医院进行甲状腺手术的251例患者临床资料,所有患者术中用细针对可疑甲状旁腺组织进行穿刺,使用PGI系统通过检测穿刺组织液的甲状旁腺激素(PTH)浓度来鉴别是否为甲状旁腺,同时将穿刺的组织切少许送冷冻病理检查,以冷冻病理检测结果为对照标准,统计分析该鉴定系统鉴别甲状旁腺的准确性。结果:PGI系统共检测434份组织,其中无效检测16份,有效检测418份。在有效检测的组织中,PGI系统鉴定为甲状旁腺组织311份,非甲状旁腺组织组织107份;冷冻病理检查诊断为甲状旁腺组织314份,非甲状旁腺组织104份。两种检测方法有明显的一致性(к=0.969,P0.001)。使用PGI系统识别甲状旁腺的敏感度99.0%(309/312),特异度98.1%(104/106),阳性预测值99.4%(309/311),阴性预测值97.2%(104/107),误诊率1.9%(2/104),漏诊率1.0%(3/312),准确率98.8%(413/418)。所有患者术后均无出血或感染,均未出现永久性的甲状旁腺功能减退及喉返神经麻痹。结论:PGI系统可用于甲状腺手术中鉴别甲状旁腺组织,具有速度快、准确率高、操作简便、组织损伤小等特点。     

临床甲状腺癌基因检测报告解读的现状与思考

基因测序是实现肿瘤精准医疗的基础手段,可辅助肿瘤诊断、判断患者预后、指导靶向药物治疗等。近年来,基因测序技术已广泛应用于甲状腺癌的临床诊治工作中。但截至目前,不同医疗中心对基因测序适应证的把控、报告解读水平,以及各测序平台的检测结果可靠性参差不齐。本文通过分析基因检测在甲状腺癌诊治中应用的现状与问题,结合笔者个人临床经验,探讨基因检测在甲状腺癌诊治全程管理中的特殊性及其价值。     

Recognition of a positive MLR within 4 hours using a carrier free electrophoresis system

Summary Indicator cells — tanned, surface stabilized sheep erythrocytes — were incubated for 1 h in supernatants of 3 h MLCs. Their electrophoretic mobility was measured by an analytical, carrier free electrophoresis system. The change in their mobility compared with an appropriate control was calculated in per cent and correlated with the conventional measured MLR-cpm. The correlation of the two quantities is statistically highly significant (p<0.01). Furthermore, the difference of the electrophoretic mobility values of the group of HLA-D-identical and the groups of HLA-D-haploidentical or -different donors is significant beyond the 1 level (p<0.0005). Our method enables, therefore recognition of a positive or negative MLC after only 4 h. Typing for HLA-D-determinants seems to be possible. This could be of great importance for histocompatibility testing and organ transplantation.     

Applications of Technology in Neuropsychological Assessment

Most neuropsychological assessments include at least one measure that is administered, scored, or interpreted by computers or other technologies. Despite supportive findings for these technology-based assessments, there is resistance in the field of neuropsychology to adopt additional measures that incorporate technology components. This literature review addresses the research findings of technology-based neuropsychological assessments, including computer- and virtual reality-based measures of cognitive and functional abilities. We evaluate the strengths and limitations of each approach, and examine the utility of technology-based assessments to obtain supplemental cognitive and behavioral information that may be otherwise undetected by traditional paper-and-pencil measures. We argue that the potential of technology use in neuropsychological assessment has not yet been realized, and continued adoption of new technologies could result in more comprehensive assessment of cognitive dysfunction and in turn, better informed diagnosis and treatments. Recommendations for future research are also provided.     

Reliability Of Arm Wingate Anaerobic Testing In Persons With Complete Paraplegia

Abstract

Background: Accurate, reliable assessment of upper extremity muscular power in persons with paraplegia caused by spinal cord injury (SCI) would provide an objective indication of their ability to generate the forces necessary for the performance of daily activities. Wingate Anaerobic Testing (WAnT) consists of a 30-second sprint test on a cycle ergometer and has been used widely in both athletic and research settings.

Purpose: To examine test-retest reliability of arm WAnT performance in persons with complete SCI and paraplegia.

Methods: Forty-three participants with thoracic-level paraplegia (T2 through T12) performed 2 trials of arm WAnT with 2 to 7 days between each trial. Testing was performed using a Monarch 834E ergometer with participants seated in their wheelchairs. Participants were directed to crank at maximal pace for 30 seconds against a resistance load equivalent to 3.5% of their body mass. The SMI OptoSensor 2000 system was used to determine values of peak power (P_peak), mean power (P_mean), minimum power, and rate of fatigue, which were compared between trials using 1-way analysis of variance for repeated measures. Coeffi cients of determination (r₂) were calculated between trials for P_peak and P_mean.

Results: No significant diffe rence was found between trials for any of the power output variables. Regression analysis ind icat ed that P_peak and P_mean were closely associated between the 2 trials (r₂= 0.92 and 0.94, respectively).

Conclusion: Arm WAnT is a reliable measurement tool for the assessment of upper extremity muscular power in persons with complete paraplegia.