静息态脑电信号Lemple-Ziv复杂度与运动想象响应能力的相关性

目的　观察持续性加速度暴露对加法心算能力的影响,探讨建立飞行员抗荷耐力与认知能力的综合评估方法。方法 12名男性志愿者在载人离心机上进行了慢增长率模式（gradual-onset rate run, GOR）持续性加速度暴露,在暴露前及暴露过程中分别完成加法心算任务。对GOR1耐力、GOR2耐力,G暴露前及暴露时的心算答题量、正确率、反应时及加工效率等数据进行了分析。结果　志愿者GOR1耐力为（4.10±0.79）G,GOR2耐力为（5.82±0.70）G,与GOR1耐力相比差异有统计学意义（t=9.677,P=0.000）。G暴露时与暴露前相比,心算加工效率（P=0.632）无显著差异,但正确率（P=0.002）和反应时（P=0.041）显著降低,答题量降低至边缘显著水平（P=0.056）。有4名志愿者的GOR1耐力、GOR2耐力及G暴露时加法心算正确率满足假定的综合选拔标准。 结论　持续性+Gz加速度暴露会影响加法心算能力,表现为答题量及答题正确率降低。     

Quantitative evaluation of salivary gland scintigraphy in Sjögren’s syndrome: comparison of diagnostic efficacy and relationship with pathological features of the salivary glands

The value of salivary gland scintigraphy (SGS) in the evaluation of Sjögren’s syndrome (SS) remains controversial. The aim of this study was to evaluate the diagnostic efficacy of quantitative SGS in patients with xerostomia and to assess the correlation between scintigraphic parameters and pathological features of salivary glands. Medical records of 165 patients with xerostomia who underwent [99mTc] pertechnetate SGS and labial biopsy were retrospectively reviewed. The maximum accumulation ratio (MAR), maximum secretion ratio (MSR), and time interval from stimulation to minimum count (Tmin) of the parotid glands were calculated to quantify the glandular activity. Furthermore, pre-stimulatory oral activity index (PRI) and post-stimulatory oral activity index (POI) were calculated to quantify the oral activity. All parameters except for Tmin were significantly lower in patients with SS than in those without SS. Among the five SGS parameters, PRI showed the highest areas under the curve value (0.9005; p < 0.001), and PRI > 32.75 was associated with a sensitivity of 78.5% and specificity of 86.4% for the diagnosis of SS. A decrease in MAR, MSR, PRI, and POI and an increase in Tmin correlate significantly with the histopathologic grade of labial gland biopsy and disease severity of SS. No significant differences in glandular parameters (MAR, MSR, and Tmin) were found between the non-SS and early-stage SS groups. Conventional scintigraphic parameters could be used as simple, reliable, and sensitive indicators for the early diagnosis of SS and determination of disease severity.     

偏瘫性肩痛患者腋囊的MRI观测及临床意义

目的通过MRI技术观察偏瘫患者肩疼痛腋囊形态变化,为影像诊断提供依据。方法对47例偏瘫性肩疼痛患者(疼痛组)和47例正常肩部(对照组),运用MRI技术对肩关节腋囊进行测量,观察腋囊下肱盂韧带信号。结果偏瘫性肩疼痛的腋囊厚度(4.1±1.45)mm,高于对照组。腋囊腔高度(8.70±1.80)mm,腋囊腔宽度(4.31±0.56)mm,小于对照组。偏瘫性肩痛下肱盂韧带呈高信号出现率达21%,腋囊厚度与VAS呈正相关,与肩关节外展外旋呈负相关。结论脑中风中后期肩周炎是引起偏瘫性肩疼痛患者的常见原因,腋囊厚度是限制肩关节活动度的重要因素。     

99Tcm-MIBI双时相平面显像阴性的散发性甲状旁腺癌一例及文献复习

笔者报道了一例散发性甲状旁腺癌（PTC）99Tcm-甲氧基异丁基异腈（MIBI）显像阴性病例。PTC患者临床上表现为严重高钙血症引起的多个系统及器官的改变,需依赖于超声、甲状旁腺核素扫描（99Tcm-MIBI）、CT等检查明确定位后予以手术治疗,其中99Tcm-MIBI显像具有方法简便、灵敏度高的优势,被广泛应用于临床,但仍有少数病例存在检查结果阴性的可能,易造成患者误诊、漏诊。笔者通过文献复习加深了对99Tcm-MIBI显像阴性的PTC患者的认识:对于怀疑PTC,但99Tcm-MIBI显像阴性的患者,需考虑到可能存在假阴性,并应分析讨论导致假阴性可能的原因,进而结合其他临床特征进行综合判断,尽可能地减少患者的误诊及漏诊。     

β 连环蛋白对脑胶质瘤辐射抗性的影响

目的 探讨β 连环蛋白（β-catenin）在X 射线照射条件下对人脑胶质瘤U87 细胞增殖、生存 的影响。方法 U87 细胞经采用5μmol/L IWR-1-endo 处理后,用X 射线照射,采用CCK-8 法平板克隆 形成实验检验细胞增殖和存活能力,免疫荧光染色检验细胞相关蛋白的表达,电镜观察细胞内微结构的变化。 结果 人脑胶质瘤U87 细胞辐射后,照射组β-catenin 蛋白相对表达量比对照组低（P <0.05）;经IWR-1- endo 处理的细胞增殖和平板克隆形成率有增加趋势（P <0.05）。结论 降低β-catenin 抑制Wnt/β-catenin 信号通路,虽然能降低胶质瘤细胞增殖能力,但可能通过保护细胞线粒体的方式增加胶质瘤细胞对辐射治疗 的抗性。     

The role of diversity in data‐driven analysis of multi‐subject fMRI data: Comparison of approaches based on independence and sparsity using global performance metrics

Data‐driven methods have been widely used in functional magnetic resonance imaging (fMRI) data analysis. They extract latent factors, generally, through the use of a simple generative model. Independent component analysis (ICA) and dictionary learning (DL) are two popular data‐driven methods that are based on two different forms of diversity—statistical properties of the data—statistical independence for ICA and sparsity for DL. Despite their popularity, the comparative advantage of emphasizing one property over another in the decomposition of fMRI data is not well understood. Such a comparison is made harder due to the differences in the modeling assumptions between ICA and DL, as well as within different ICA algorithms where each algorithm exploits a different form of diversity. In this paper, we propose the use of objective global measures, such as time course frequency power ratio, network connection summary, and graph theoretical metrics, to gain insight into the role that different types of diversity have on the analysis of fMRI data. Four ICA algorithms that account for different types of diversity and one DL algorithm are studied. We apply these algorithms to real fMRI data collected from patients with schizophrenia and healthy controls. Our results suggest that no one particular method has the best performance using all metrics, implying that the optimal method will change depending on the goal of the analysis. However, we note that in none of the scenarios we test the highly popular Infomax provides the best performance, demonstrating the cost of exploiting limited form of diversity.     

鼻唇沟微笑切口入路在后颊癌根治术中的应用

目的 探讨应用鼻唇沟微笑切口入路进行后颊癌根治手术的可行性并评价其临床效果。方法 选取2016年8月—2017年3月间行手术治疗的23例后颊癌患者,完成颈部淋巴结清扫术后,在口角外1 cm处的鼻唇沟内设计切口线,即微笑切口。切口呈弧形,向上至鼻翼外下缘,向下与颈淋巴清扫术切口连续。结果 23例患者的原发灶术中显露满意,切缘肿瘤细胞均为阴性。术后随访12~22个月,平均16.5个月,所有患者恢复良好,未见肿瘤复发及远处转移。开口度基本恢复正常,面部切口仅在鼻唇沟处遗留隐蔽的类似“微笑”样的瘢痕。结论 经鼻唇沟微笑切口入路切除后颊癌,术野显露满意,手术操作便利,在不影响肿瘤根治的前提下避免了对患者口裂完整性的破坏,有助于患者开口度的恢复,切口瘢痕隐蔽,值得临床推广应用。     

Neurofibromatosis 2 with peripheral neuropathies: Electrophysiological,pathological and genetic studies of a Taiwanese family

The objective of this study was to assess peripheral nerve involvement and DNA mutation of the neurofibromatosis type 2 (NF2) gene (NF2) in a Taiwanese family with classic NF2. Eleven members (six symptomatic and five asymptomatic) of a family carrying NF2 underwent clinical examination, neuroimaging, and electrophysiological analysis. Mutation and linkage analyses were conducted on DNA samples prepared from peripheral blood (all individuals), a sural nerve biopsy specimen (one symptomatic member), and a tumor specimen (another symptomatic member). Six of the 11 members were diagnosed with classic NF2. DNA sequencing of the tumor specimen demonstrated a frameshift mutation with 756delC on exon 8 of NF2. Three affected subjects showed clinical variability of the neuropathic disorders. Electrophysiological studies demonstrated variation in the disease pattern and severity of peripheral nerve involvement in five affected subjects. The morphometric assessment of the sural nerve biopsy specimen showed a marked reduction in both large myelinated and unmyelinated fibre density and increased density of non‐myelinating Schwann cell nuclei. Apart from numerous pathological nuclei of isolated Schwann cells, multiple profiles of non‐myelinating Schwann cell subunits were apparent in the endoneurium. Schwann cell proliferation in association with first‐hit mutation of the merlin gene might be responsible for the NF2‐associated neuropathy. Sural nerve biopsy showed a progressive neuropathy in the disease. Further, we suggest nonmyelinating Schwann cells are involved in NF2 neuropathy.     

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1

Purpose: Generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI) are associated with sodium channel α‐subunit type‐1 gene (SCN1A) mutations. Febrile seizures and partial seizures occur in both GEFS+ and SMEI; sporadic onset and seizure aggravation by antiepileptic drugs (AEDs) are features of SMEI. We thus searched gene mutations in isolated cases of partial epilepsy with antecedent FS (PEFS+) that showed seizure aggravations by AEDs. Methods: Genomic DNA from four patients was screened for mutations in SCN1A, SCN2A, SCN1B, and GABRG2 using denaturing high‐performance liquid chromatography (dHPLC) and sequencing. Whole‐cell patch clamp analysis was used to characterize biophysical properties of two newly defined mutants of Na_v1.1 in tsA201 cells. Results: Two heterozygous de novo mutations of SCN1A (R946H and F1765L) were detected, which were proven to cause loss of function of Na_v1.1. When the functional defects of mutants reported previously are compared, it is found that all mutants from PEFS+ have features of loss of function, whereas GEFS+ shows mild dysfunction excluding loss of function, coincident with mild clinical manifestations. PEFS+ is similar to SMEI clinically with possible AED‐induced seizure aggravation and biophysiologically with features of loss of function, and different from SMEI by missense mutation without changes in hydrophobicity or polarity of the residues. Conclusions: Isolated milder PEFS+ may associate with SCN1A mutations and loss of function of Na_v1.1, which may be the basis of seizure aggravation by sodium channel–blocking AEDs. This study characterized phenotypes biologically, which may be helpful in understanding the pathophysiologic basis, and further in management of the disease.