毛囊角化病ATP2A2基因突变二例及家系调查

【摘要】 例1男，16岁，面部、颈部及双腋下见密集褐色毛囊角化性丘疹，部分融合成斑块，局部可见疣状增生；母亲与其有相似的病史及临床表现。例2男，21岁，头面部、颈部、躯干、双腋下及臀部见弥漫性毛囊角化性丘疹，部分融合成片，局部可见疣状增生；家族成员均无类似症状。例2颈部皮损组织病理：表皮角化过度伴灶状角化不全，棘层部分区域棘刺松解并有腔隙形成，可见绒毛、圆体和谷粒细胞，真皮浅层炎症细胞浸润。2例患者及其父母基因检测：例1及母亲ATP2A2基因存在第15外显子c.2300A>G错义突变；例2第15外显子与第15内含子交界处存在c.2097+5G>A 剪切区域突变。2例患者其他家族成员未见上述突变。     

二元应对干预对乳腺癌术后患者及配偶的影响

目的探讨二元应对干预对乳腺癌术后患者心理资本及其与配偶间疾病沟通问题的影响。方法选取乳腺癌改良根治术后患者及其配偶为研究对象,按住院时间段分为对照组和干预组各48例,对照组给予常规护理,干预组在此基础上实施二元应对护理干预。干预前及干预16周后采用积极心理资本问卷、夫妻癌症相关沟通问题量表、二元应对量表评价干预效果。结果干预后,干预组患者心理资本得分,夫妻双方二元应对得分显著高于对照组,患者自评夫妻间疾病沟通问题得分显著低于对照组(均P<0.01)。结论二元应对干预能够提高乳腺癌患者心理资本、二元应对水平,降低其与配偶间疾病沟通问题。     

Insulin-like growth factor binding protein-1 inhibits cancer cell invasion and is associated with poor prognosis in hepatocellular carcinoma

Insulin-like growth factor binding protein-1 (IGFBP-1) plays an important role in the development and progression of cancer. However, the expression of IGFBP-1 remains equivocal, and little is known about its clinicopathological significance and prognostic value in hepatocellular carcinoma (HCC). In this study, we evaluated the expression of IGFBP-1 in 90 paired HCC tissues and adjacent non-cancerous liver tissues and analyzed its clinical and prognostic significance. The results showed that IGFBP-1 was detected in cytoplasm as well as cell nucleus, and down-regulated in HCC tissues compared to the adjacent non-cancerous liver tissues. The decreased expression of IGFBP-1 was correlated with tumor differentiation, liver cirrhosis, microvascular invasion or metastasis, TNM stage and poor survival. Moreover, low levels of IGFBP-1 may be an independent prognostic indicator for the survival of patients with HCC. We also evaluated its function by adding recombinant IGFBP-1 to the cultured HCC cell lines HepG2 and MHCC97-H. The result of the invasion chamber assay showed that IGFBP-1 could inhibit the invasion of HepG2 and MHCC97-H. MMP-9 secretion by these cells was significantly decreased when the cells were treated with IGFBP-1. Our results suggest that IGFBP-1 inhibits the invasion and metastasis of HCC cells and that IGFBP-1 may be useful as a valuable marker for the prognosis of patients with HCC.     

KISS-1和VEGF—C在乳头状甲状腺癌组织中的表达及临床意义

目的研究KISS—1、VEGF—C在乳头状甲状腺癌组织中的表达情况，分析两者表达与乳头状甲状腺癌临床病理特征的关系以及两者的相关性。方法收集乳头状甲状腺癌组织病理标本48例及其正常甲状腺组织20例，采用免疫组织化学SP法检测KISS—1、VEGF—C在乳头状甲状腺癌组织中的表达情况，分析KISS—1、VEGF—C在乳头状甲状腺癌组织中阳性表达率与临床病理学特征之间的关系以及两者表达之间的相关性。结果KISS-1、VEGF—C在乳头状甲状腺癌组织和正常甲状腺组织中的阳性表达率之间具有显著性差异（P〈0．01）。KISS-1、VEGF—C在乳头状甲状腺癌组织中的阳性表达率与肿瘤大小、颈部淋巴结转移、临床分期相关且均有显著性差异（P〈0．05）。KISS-1和VEGF—C的表达与患者的性别、年龄均无关（P〉0．05）；KISS-1与VEGF—C在乳头状甲状腺癌组织表达存在负相关关系（P〈0．05）。结论KISS—1、VEGF—C的表达水平与乳头状甲状腺癌有关，且与肿瘤大小、颈部淋巴结转移状况、临床分期相关，与患者性别、年龄无关。KISS-1在乳头状甲状腺癌组织的表达与VEGF—C呈负相关关系。KISS-1、VEGF—C联合检测可作为乳头状甲状腺癌恶性潜能的判断指标。     

Mangiferin Stimulates Carbohydrate Oxidation and Protects Against Metabolic Disorders Induced by High-Fat Diets

Excessive dietary fat intake causes systemic metabolic toxicity, manifested in weight gain, hyperglycemia, and insulin resistance. In addition, carbohydrate utilization as a fuel is substantially inhibited. Correction or reversal of these effects during high-fat diet (HFD) intake is of exceptional interest in light of widespread occurrence of diet-associated metabolic disorders in global human populations. Here we report that mangiferin (MGF), a natural compound (the predominant constituent of Mangifera indica extract from the plant that produces mango), protected against HFD-induced weight gain, increased aerobic mitochondrial capacity and thermogenesis, and improved glucose and insulin profiles. To obtain mechanistic insight into the basis for these effects, we determined that mice exposed to an HFD combined with MGF exhibited a substantial shift in respiratory quotient from fatty acid toward carbohydrate utilization. MGF treatment significantly increased glucose oxidation in muscle of HFD-fed mice without changing fatty acid oxidation. These results indicate that MGF redirects fuel utilization toward carbohydrates. In cultured C2C12 myotubes, MGF increased glucose and pyruvate oxidation and ATP production without affecting fatty acid oxidation, confirming in vivo and ex vivo effects. Furthermore, MGF inhibited anaerobic metabolism of pyruvate to lactate but enhanced pyruvate oxidation. A key target of MGF appears to be pyruvate dehydrogenase, determined to be activated by MGF in a variety of assays. These findings underscore the therapeutic potential of activation of carbohydrate utilization in correction of metabolic syndrome and highlight the potential of MGF to serve as a model compound that can elicit fuel-switching effects.     

Epigenetically downregulated Semaphorin 3E contributes to gastric cancer

Axon guidance protein Semaphorin 3E (Sema3E) promotes tumor metastasis and suppresses tumor cell death. Here, we demonstrated that Sema3E was decreased in gastric cancer. Its levels were inversely associated with tumor progression. Levels of Sema3E were associated with low p300 and high class I histone deacetylase (class I HDAC). Ectopic expression of Sema3E inhibited proliferation and colony formation of gastric cancer cell lines in vitro and xenografts in vivo. Sema3E overexpression inhibited migration and invasion of gastric cancer cells, which was associated with induction of E-cadherin and reduction of Akt and ERK1/2 phosphorylation. We suggest that silencing of Sema3E contributes to the pathogenesis of gastric cancer.     

吻内侧被盖核(RMTg)参与吗啡引起的大鼠睡眠紊乱

 目的 旨在阐明吻内侧被盖核(rostromedial tegmental nucleus,RMTg)是否参与吗啡引起的大鼠睡眠障碍。方法 将雄性SD大鼠随机分为溶剂对照组和吗啡组,每组7只,对照溶剂为人工脑脊液(artificial cerebrospinal fluid,ACSF)。采用脑立体定位、核团微量注射和睡眠记录与解析等技术观察RMTg内给予吗啡对大鼠睡眠-觉醒周期的影响。结果 与对照组相比,双侧RMTg 给予吗啡(16 mmol/L,每侧0.5 μL)可以引起大鼠长达4 h的觉醒,期间非快动眼(non-rapid eye movement,NREM)睡眠深度降低、快动眼(REM)睡眠减少的现象与吗啡临床用药所引起的睡眠障碍的表现相一致。结论 RMTg参与吗啡引起的大鼠睡眠紊乱。