枕大神经卡压症的临床研究

目的观察药物或局部封闭治疗枕大神经卡压症的疗效。方法对86例枕大神经卡压症的患者先给予药物治疗,疗效差的病例再给予封闭治疗。结果单纯药物治疗的疗效为40.7%,而局部封闭治疗的疗效为90.2%。结论枕大神经卡压症容易误诊,本组病例的误诊率为53.5%;枕大神经卡压症先给予药物治疗,疗效差者给予局部封闭治疗可以获得满意的疗效。     

彩色多普勒超声在布加综合征诊断中的价值

目的探讨布加综合征的超声声像图特征,特别是彩色多普勒超声的诊断价值。方法对22例经下腔静脉造影或经皮肝静脉穿刺造影确诊的布加综合征患者的超声检查进行回顾性分析。除常规二维超声表现外,重点记录患者的彩色多普勒超声特点,并以造影结果为金标准,计算超声诊断的敏感性和特异性。结果22例患者中,肝静脉狭窄或闭塞型5例(Ⅰ型),下腔静脉阻塞或闭塞型(Ⅱ型)15例,肝静脉和下腔静脉混合性病变(Ⅲ型)2例。二维声像图表现为肝静脉及下腔静脉管壁增厚,致狭窄或闭塞,肝静脉间交通支形成;彩色多普勒超声显示肝静脉、下腔静脉异常的血流情况;频谱多普勒超声显示肝静脉、下腔静脉低速、平坦、单向的血流流速曲线。本组彩超诊断正确率约90.91%。结论彩色多普勒超声检查可以确定布加综合征血管病变的部位、范围及类型,准确反映下腔静脉、尤其是肝静脉的血流方向及流速曲线的变化,对减少误诊为肝硬化提供可靠的诊断信息。     

基于新陈代谢灰色马尔科夫 ARMA模型的航空公司能耗预测

航空公司能耗的预测直接影响能源需求的规划与节能的决策.针对航空公司能耗数据既有趋势性又有波动性的特点,提出了新陈代谢灰色马尔科夫-ARMA的能耗组合滑动预测模型.该模型利用灰色马尔科夫方法描述了能耗的变动趋势,通过ARMA模型捕捉残差序列的相关性来描述波动性,用新陈代谢的方法剔除模型中失去时效性的旧数据,解决了常规预测模型不足以完全描述航空公司能耗运动趋势的问题,提高了模型预测精度.仿真结果表明:提出模型精度优于传统ARMA模型和灰色马尔科夫模型,能够实现月度能耗的有效预测,为航空公司能耗监测和节能工作的优化开展提供了有力支持.     

应激与去卵巢对小鼠行为活动的影响及中药复方Ⅰ的防治作用

目的: 观察应激和去卵巢造模对小鼠行为活动的影响, 并观察中药复方Ⅰ 对其的防治作用。方法: 本研究首次采用应激和去卵巢造模观察对小鼠睡眠时间、常压耐缺氧时间、爬绳时间及活动次数的影响, 观察中药复方Ⅰ对其的防治作用。结果: 单纯应激、单纯去卵巢以及应激与去卵巢对小鼠睡眠、耐常压缺氧、爬绳及活动次数有不同程度的影响, 但应激与去卵巢比单纯应激、单纯去卵巢对小鼠的影响更为强烈。应激和去卵巢可致小鼠睡眠障碍加剧,其睡眠潜伏期延长, 睡眠时间缩短;常压缺氧存活时间缩短, 爬绳时间缩短, 小鼠活动次数增加。结论: 应激能使去卵巢小鼠对外界环境改变的敏感性增强, 与目前临床更年期综合征发病机制相符。由酸枣仁、知母等药组成的中药复方Ⅰ 可改善应激与去卵巢小鼠的睡眠, 缩短小鼠入睡潜伏期, 延长小鼠睡眠时间;能增加小鼠体力, 使其耐常压缺氧存活时间延长, 爬绳时间延长;还具有一定的镇静作用, 可使小鼠活动次数减少。     

甲巯咪唑致中国人群胰岛素自身免疫综合征的临床特点分析

目的:探讨中国人群甲巯咪唑致胰岛素自身免疫综合征（IAS）的临床特点。方法:收集1985年1月1日至2019年6月30日国内外期刊公开发表的中国人群甲巯咪唑致IAS病例文献,进行回顾性分析。结果:共统计95例甲巯咪唑致IAS患者,男性发病年龄早于女性,性别比为1∶2.31;服用甲巯咪唑30 mg/d后在1月至3月内发生IAS最多,主要在夜间及凌晨以神经性低血糖为首发症状,血糖一般在2 mmol/L以下,胰岛素浓度常≥100 mU/ L,胰岛素自身抗体（IAA）阳性。胰腺影像学无明显异常;停用甲巯咪唑,给与对症及激素治疗后,症状逐渐缓解,激素治疗与非激素治疗低血糖消失时间无明显区别。结论:甲巯咪唑致IAS是一种临床上少见的自身免疫性疾病,服药期间如出现低血糖或高血糖现象,应及时就诊和处理,正确治疗后,一般预后良好。     

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms

Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. While cancer is the most common class of disease associated with genomic instability, several congenital diseases with dysfunctional DNA replication give rise to similar DNA alterations. In this review, we discuss all congenital diseases that arise from pathogenic variants in essential replication genes across the spectrum of aberrant replisome assembly, origin activation and DNA synthesis. For each of these conditions, we describe their clinical phenotypes as well as molecular studies aimed at determining the functional mechanisms of disease, including the assessment of genomic stability. By comparing and contrasting these diseases, we hope to illuminate how the disruption of DNA replication at distinct steps affects human health in a surprisingly cell-type-specific manner.     

Role of the HSP70 Co-Chaperone SIL1 in Health and Disease

Cell surface and secreted proteins provide essential functions for multicellular life. They enter the endoplasmic reticulum (ER) lumen co-translationally, where they mature and fold into their complex three-dimensional structures. The ER is populated with a host of molecular chaperones, associated co-factors, and enzymes that assist and stabilize folded states. Together, they ensure that nascent proteins mature properly or, if this process fails, target them for degradation. BiP, the ER HSP70 chaperone, interacts with unfolded client proteins in a nucleotide-dependent manner, which is tightly regulated by eight DnaJ-type proteins and two nucleotide exchange factors (NEFs), SIL1 and GRP170. Loss of SIL1′s function is the leading cause of Marinesco-Sjögren syndrome (MSS), an autosomal recessive, multisystem disorder. The development of animal models has provided insights into SIL1′s functions and MSS-associated pathologies. This review provides an in-depth update on the current understanding of the molecular mechanisms underlying SIL1′s NEF activity and its role in maintaining ER homeostasis and normal physiology. A precise understanding of the underlying molecular mechanisms associated with the loss of SIL1 may allow for the development of new pharmacological approaches to treat MSS.     

Neuroprotective Effects of Testosterone in the Hypothalamus of an Animal Model of Metabolic Syndrome

Metabolic syndrome (MetS) is known to be associated to inflammation and alteration in the hypothalamus, a brain region implicated in the control of several physiological functions, including energy homeostasis and reproduction. Previous studies demonstrated the beneficial effects of testosterone treatment (TTh) in counteracting some MetS symptoms in both animal models and clinical studies. This study investigated the effect of TTh (30 mg/kg/week for 12 weeks) on the hypothalamus in a high-fat diet (HFD)-induced animal model of MetS, utilizing quantitative RT-PCR and immunohistochemical analyses. The animal model recapitulates the human MetS features, including low testosterone/gonadotropin plasma levels. TTh significantly improved MetS-induced hypertension, visceral adipose tissue accumulation, and glucose homeostasis derangements. Within hypothalamus, TTh significantly counteracted HFD-induced inflammation, as detected in terms of expression of inflammatory markers and microglial activation. Moreover, TTh remarkably reverted the HFD-associated alterations in the expression of important regulators of energy status and reproduction, such as the melanocortin and the GnRH-controlling network. Our results suggest that TTh may exert neuroprotective effects on the HFD-related hypothalamic alterations, with positive outcomes on the circuits implicated in the control of energy metabolism and reproductive tasks, thus supporting a possible role of TTh in the clinical management of MetS.     

Cushing’s Syndrome Effects on the Thyroid

The most known effects of endogenous Cushing’s syndrome are the phenotypic changes and metabolic consequences. However, hypercortisolism can exert important effects on other endocrine axes. The hypothalamus–pituitary–thyroid axis activity can be impaired by the inappropriate cortisol secretion, which determinates the clinical and biochemical features of the “central hypothyroidism”. These findings have been confirmed by several clinical studies, which also showed that the cure of hypercortisolism can determine the recovery of normal hypothalamus–pituitary–thyroid axis activity. During active Cushing’s syndrome, the “immunological tolerance” guaranteed by the hypercortisolism can mask, in predisposed patients, the development of autoimmune thyroid diseases, which increases in prevalence after the resolution of hypercortisolism. However, the immunological mechanism is not the only factor that contributes to this phenomenon, which probably includes also deiodinase-impaired activity. Cushing’s syndrome can also have an indirect impact on thyroid function, considering that some drugs used for the medical control of hypercortisolism are associated with alterations in the thyroid function test. These considerations suggest the utility to check the thyroid function in Cushing’s syndrome patients, both during the active disease and after its remission.