Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found in 144 cTTP patients reported in the literature and examined associations of several mutation characteristics, including N‐terminal proximity, the evolutionary conservation of the affected amino acid position, as well as amino acid charge/phosphorylation and genetic codon usage to disease phenotype. Structure‐altering mutations were examined for their impact on ADAMTS13 function based on existing ADAMTS13 crystallographic data (AA 77‐685). Our in silico data indicate that: (i) The position of the mutation in the N‐ or C‐terminus, (ii) evolutionary conservation and (iii) codon usage of the affected mutation position are associated with disease parameters, such as age of onset, organ damage and fresh frozen plasma prophylaxis. In conclusion, the usage of multiple in silico tools presents a promising strategy in refining predictions for the diverse presentation of cTTP. Enhancing our utilization of in silico tools to find genotype‐phenotype associations will create better‐tailored approaches for individual patient treatment.     

乳腺癌超声弹性成像面积比与其组织学分级、临床分期关系的初步研究

目的探讨乳腺超声弹性成像面积比（AR）对乳腺癌患者病情发展及预后评估的参考价值。方法回顾性分析105例经病理结果证实的乳腺癌患者临床资料,术前行乳腺常规超声及超声弹性成像检查,分析乳腺癌患者不同组织学分级间、不同临床分期间AR参数的变化情况。结果术前以AR≥1.5为诊断恶性的标准,73例恶性,诊断符合率为69.52%。超声弹性成像AR在各组织学分级、临床分期组间差异有统计学意义（P〈0.05）：组织学分级Ⅰ～Ⅲ级的AR值分别为1.210±0.018、1.470±0.126、1.600±0.028,临床分期Ⅰ～Ⅳ期AR值分别为1.230±0.056、1.540±0.017、1.580±0.025及1.620±0.023,即AR在组织分级较高及临床分期较晚时增大。结论 AR可为乳腺癌病情发展及预后评估提供有价值的参考信息。     

老年银屑病的临床表型和治疗策略

1老年银屑病概述 银屑病作为一种常见的慢性炎症性皮肤病,通常以鳞屑性红斑或者斑块为特点.其发病机制尚未完全明确,遗传、环境、免疫应答异常等多种因素都可能参与发病,最终导致表皮角质形成细胞的异常增生和炎症反应.近年来研究显示,银屑病还与心血管疾病、代谢综合征等多种疾病的发病风险增加相关.银屑病可发生在任何年龄,但通常认为...     

橘红梨膏中化橘红、五味子的薄层鉴别

目的:对橘红梨膏的质量标准进行修订.方法:采用薄层色谱法对橘红梨膏中化橘红和五味子进行鉴别.结果:薄层鉴别专属性强,阴性对照无干扰.结论:本法简便、可靠,可用于橘红梨膏的质量控制.     

Hypothalamus-brain stem circuitry responsible for vagal efferent signaling to the pancreas evoked by hypoglycemia in rat

Circulating glucose levels significantly affect vagal neural activity, which is important in the regulation of pancreatic functions. Little is known about the mechanisms involved. This study investigates the neural pathways responsible for hypoglycemia-induced vagal efferent signaling to the pancreas and identifies the neurotransmitters involved. Vagal pancreatic efferent nerve activities were recorded in anesthetized rats. Insulin-induced hypoglycemia, a decrease of blood glucose levels from 114 +/- 5 to 74 +/- 6 mg dl(-1), stimulated an increase in pancreatic efferent nerve firing from a basal rate of 1.1 +/- 0.3 to 19 +/- 3 impulses 30 s(-1). In contrast, vagal primary afferent neuronal discharges recorded in the nodose ganglia were unaltered by systemic hypoglycemia. Vagal afferent rootlet section plus splanchnicotomy had no effect on hypoglycemia-induced vagal efferent firing, suggesting a central site of action. Decerebration reduced the increase in nerve firing stimulated by hypoglycemia from 21 +/- 4 to 9.6 +/- 2 impulses 30 s(-1). Chemical ablation of the lateral hypothalamic area, but not the arcuate nucleus, inhibited pancreatic nerve firing evoked by hypoglycemia. Microinjection of the orexin-A receptor antagonist SB-334867 into the dorsal motor nucleus of the vagus (DMV) inhibited pancreatic nerve firing evoked by insulin-induced hypoglycemia by 56%. In contrast, injection of orexin-A (20 pmol) into the DMV elicited a 30-fold increase in pancreatic nerve firing. We concluded that systemic hypoglycemia stimulates pancreatic efferent nerve firing through a central mechanism. Full expression of pancreatic nerve activities during hypoglycemia requires both the forebrain and the brain stem. In addition to activating neurons in the brain stem, central neuroglucopenia activates subpopulations of neurons in the lateral hypothalamic area that contain orexin. The released orexin acts on DMV neurons to stimulate pancreatic efferent nerve activities and thus regulate pancreatic functions.     

Lacrimal sac diverticulum presenting as a lower eyelid mass with a secreting fistula

To the editor： A 12-month-old child was admitted to our department for treatment regarding his inner canthus mass. His parents complained epiphora and mucopurulent discharge of the left eye after formation of a mass located in the left lower eyelid and medial canthus over 3 months （Figure 1A）. The mass increased in size gradually. This child was diagnosed as acute dacryocystitis and underwent probing for two times in another hospital. When he was 6 months old, he also had a similar mass which had resolved spontaneously. No history of sinus or systemic disease, trauma, or facial surgery was found.     

产妇产后母婴连结与抑郁及焦虑相关性的Meta分析

目的 系统评价产妇产后母婴连结与抑郁及焦虑的相关性,为临床进行针对性心理干预以促进母婴连结提供参考。 方法 检索Cochrane Library、PubMed、Springer Link、中国知网、维普网和万方数据库中关于母婴连结与抑郁及焦虑相关性的文献,检索时限为各数据库建库至2019年10月。文献筛选、质量评价和资料提取后,采用RevMan 5.3软件进行Meta分析。 结果 共纳入17篇文献,总样本量为6 221,文献质量总体较好。Meta分析显示,采用产后连结问卷及母婴连结量表测量的母婴连结与抑郁相关系数分别为0.41［95%CI=（0.34,0.49）］及0.24［95%CI=（0.09,0.39）］,产后母婴连结与焦虑合并相关系数为0.30［95%CI=（0.09,0.49）］。母婴连结与抑郁间相关系数随样本量的增大而增大,呈规律性变化;不同发表年份测出的相关系数不同,但变化无规律;年龄≥30岁产妇测出的相关系数大于年龄＜30岁者。在样本类型亚组中,双样本（抑郁或焦虑的临床样本/健康人群样本对照组）测得的相关系数最高,抑郁或焦虑的临床样本最小,健康人群样本居中。 结论 产妇产后母婴连结与抑郁存在弱/中相关性,与焦虑存在弱相关性,且不同样本类型、发表年份、样本量之间存在差异。进行产妇心理健康干预将会有利于改善母婴连结质量。     

医院人才招聘信息系统建设的总结与思考

【摘要】 随着信息科学技术的迅猛发展,采用网上招聘信息系统进行招聘信息的公布、应聘信息标准化快速录入及简历筛选的优势也越发明显。本文从传统招聘方式及存在的缺陷入手,结合所在医院网上招聘信息系统建设、运行和改进工作进行分析、归纳、总结,对医院网上招聘信息系统的建设有一定参考借鉴价值。     

Extraskeletal osteosarcoma of penis: A case report

Extraskeletal osteosarcoma (EOS) is rare and commonly arises in the retroperitoneum, limbs, head and neck. There is no significant difference between EOS and other malignant tumors in soft tissue. Localized pain and swelling are the common presenting symptoms. Clinical diagnosis of EOS is difficult, imaging techniques may be helpful and careful, and the histopathological analysis is necessary. The common histological variants of EOS include: osteoblastoma, chondroblastoma, and fibroblastoma, and other unusual subtypes were reported occasionally. It should be distinguished with myositis ossificans, malignant mesenchymoma, giant cell tumor and parosteal osteosarcoma. We present an EOS arising in the penis. The primary site and histological category of the tumor were extremely rare. We hope the case will be helpful to the recognition of clinical signs, iconography and histopathology of EOS.