Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460 kb loss of 9p24.3 and a terminal 8.9 Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13.     

Effects of Different Treatments of Salicylic Acid on Heat Tolerance, Chlorophyll Fluorescence, and Antioxidant Enzyme Activity in Seedlings of Cucumis sativa L.

The effects of different treatments of salicylic acid (SA) on lipid peroxidation, chlorophyll fluorescence and antioxidant enzyme activity in seedlings of Cucumis sativa L. were studied before heat stress treatment, 36 h after heat stress and 24 h after recovery. Compared with the controls (foliar spray of distilled water), a foliar spray of 1 mM SA (SSA treatment) decreased electrolyte leakage and the concentration of H₂O₂ and thiobarbituric acid reactive substances (TBARS). SSA treatment also enhanced maximum yield of photosystem II photochemical reactions (Fv/Fm) and the quantum yield of the photosystem II electron transport (ΦPSII) after both heat stress and recovery; however, adding 1 mM SA to the nutrient solution (ASA treatment) or both adding 1 mM SA to the nutrient solution and foliar spray of 1 mM SA as well (SSA + ASA treatment) had the opposite effects. SOD activity was stimulated by all SA treatments. CAT activity was stimulated by SSA treatment and inhibited by ASA and SSA + ASA treatments after heat stress and recovery. This suggest that SSA treatment can efficiently remove H₂O₂ and decrease heat stress, and CAT plays a key role in removing H₂O₂ in cucumber seedlings under heat stress, while more H₂O₂ accumulates in ASA and SSA + ASA treatments and therefore induces serious oxidative stress. GPX, APX and GR showed higher activities in all SA treatments under heat stress, however, it appears that they were not key enzymes in removing H₂O₂ in cucumber subject to heat stress.     

电导率与极端低温分布在闽中桉树引种决策上的研究

依据闽中地区永安市1971～2005年的极端低温与极值分布数学模型和气象学原理,探讨5～10 a内该区域不同海拔高度可能出现的极端异常低温,利用电导率测定引种区所引种的不同抗寒程度的桉树种的半致死温度,事前评价引种的可行性.首次提出利用极端低温与电导率进行引种决策,并把该方法称作"极端环境反应法".结果表明:在出现10 a以上异常低温时,邓恩桉(Eucalyptus dunnii)在该区域垂直分布可达海拔775 m,巨桉(E.grandis)及相近抗寒能力的桉树可在海拔467 m以下栽植,赤桉(E. camaldulensis)可在海拔960 m以下栽植.该方法可广泛应用于其它区域与不同树种引种的事前评价与决策.     

复合益生菌制剂"海生元"治疗实验性肠菌群失调症疗效机制探讨

目的 :通过观察复合益生菌制剂“海生元”各重要组分对实验性肠菌群失调症的治疗效果 ,初步探讨“海生元”纠正肠菌群失调症的疗效机制。方法 :(1)制备SPF BALB/c小鼠肠菌群失调症模型 ;(2 )处理因素分组 :对照组设自然恢复组 (空白对照 )和生理盐水组 (安慰剂对照 )。治疗组按“海生元”制剂中的主要药效学干预成分 (组成成分 )分为 :T9菌液 (双歧杆菌 )组 ,M9菌液 (乳杆菌 )组 ,螺旋藻组 ,组方中药组 ,复方制剂 (“海生元”)组。 (3)比较观察各组疗后第 2、4、6天腹泻症状恢复情况及全程治疗后 (共 6d)肠菌群定量分析结果。结果 :(1)各处理组对模型小鼠腹泻恢复的影响 :疗前各组 10 0 %为Ⅱ～Ⅲ (中～重 )度腹泻。疗后第 2天 ,两对照组Ⅱ～Ⅲ度腹泻为 99%和 93% ,而 5个治疗组依次为 5 3%、5 1%、5 8%、6 7%和4 7% ;疗后第 4天 ,两对照组Ⅱ～Ⅲ度腹泻为 6 5 %和 5 7% ,而 5个治疗组依次为 15 %、2 1%、19%、2 4 %和16 % ;疗后第 6天 ,两对照组和组方中药组Ⅱ度腹泻率分别为 36 %、2 9%和 18% ,其余各组均正常或为I度(轻度 )腹泻。上述 7个处理组大便正常率分别为 2 1%、2 1%、86 %、79%、77%、4 5 %和 89% ,以复方制剂(“海生元”)组最高。 (2 )各处理组肠菌群定量分析 :两对照组疗后第 2、4、6天 ,五     

Tuberculosis patients display a high proportion of CD8+ T cells with a high cytotoxic potential

Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (Mtb) and remains a major cause of morbidity and mortality worldwide. In the host's immune response system, T cells play a critical role in mediating protection against Mtb infection, but the role of CD8⁺ T cells is still controversial. We evaluated the phenotypical characterization and cytotoxic ability of CD8⁺ T cells by flow cytometry‐based assay. Cytokine levels in serum were measured by multiplex cytokine assay. Our data show that cells from TB patients have an increased percentage of peripheral blood CD8⁺αβ⁺ T (p = 0.02) and CD56⁺CD8⁺ T (p = 0.02) and a decreased frequency of NKG2D⁺CD8⁺ T (p = 0.02) compared with healthy donors. Unlike CD8⁺ T cells from healthy donors, CD8⁺ T cells from TB patients exhibit greater cytotoxicity, mediated by HLA class I molecules, on autologous monocytes in the presence of mycobacterial antigens (p = 0.005). Finally, TB patients have a proinflammatory profile characterized by serum high level of TNF‐α (p = 0.02) and IL‐8 (p = 0.0001), but, interestingly, IL‐4 (p = 0.002) was also increased compared with healthy donors. Our data show evidence regarding the highly cytotoxic status of CD8⁺ T cells in Mtb infection. These cytotoxic cells restricted to HLA‐A, B, and C could be used to optimize strategies for designing new TB vaccines or for identifying markers of disease progression.     

Altered renal immune complexes deposition in female BWF1 lupus mice following Plasmodium chabaudi infection

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease that has a mysterious relationship with malaria infection. The current study was designated to compare between the effect of the live and the gamma irradiated Plasmodium chabaudi infection on BWF1 lupus murine model. A total of 30 female BWF1 mice were randomly divided into three groups (10 mice/group) as follows: group (I) lupus group (lupus non infected); group (II) live malaria infected group (lupus + live malaria infection); and group (III) irradiated malaria-infected group (lupus + gamma irradiated malaria infection). Live P. chabaudi infection was accompanied with a decrease in survival rate and food consumption in comparison to the control group of mice while gamma irradiated P. chabaudi -infection was unable to do this effect. Additionally, live P. chabaudi infection was accompanied with an increased level of proteinuria and increased rate of immune complexes deposition in kidney. Moreover, infection with live, but not gamma-irradiated P. chabaudi was accompanied with an increase in nitric oxide (NO), hydrogen peroxide (H₂O₂), and malondialdehyde (MDA) levels in plasma of lupus mice. The levels of both total cholesterol and triglycerides in plasma of lupus mice after live P. chabaudi infection were obviously decreased in comparison to the control group. On the other hand, gamma-irradiated P. chabaudi infection resembled the control group. Our data revealed that infection of lupus mice with live but not gamma-irradiated P. chabaudi has several histological and biochemical effects.     

Analysis of covariance in randomized trials: More precision and valid confidence intervals,without model assumptions

“Covariate adjustment” in the randomized trial context refers to an estimator of the average treatment effect that adjusts for chance imbalances between study arms in baseline variables (called “covariates”). The baseline variables could include, for example, age, sex, disease severity, and biomarkers. According to two surveys of clinical trial reports, there is confusion about the statistical properties of covariate adjustment. We focus on the analysis of covariance (ANCOVA) estimator, which involves fitting a linear model for the outcome given the treatment arm and baseline variables, and trials that use simple randomization with equal probability of assignment to treatment and control. We prove the following new (to the best of our knowledge) robustness property of ANCOVA to arbitrary model misspecification: Not only is the ANCOVA point estimate consistent (as proved by Yang and Tsiatis, 2001) but so is its standard error. This implies that confidence intervals and hypothesis tests conducted as if the linear model were correct are still asymptotically valid even when the linear model is arbitrarily misspecified, for example, when the baseline variables are nonlinearly related to the outcome or there is treatment effect heterogeneity. We also give a simple, robust formula for the variance reduction (equivalently, sample size reduction) from using ANCOVA. By reanalyzing completed randomized trials for mild cognitive impairment, schizophrenia, and depression, we demonstrate how ANCOVA can achieve variance reductions of 4 to 32%.     

加减黄芪丹参饮联合优思悦治疗多囊卵巢综合征的效果及对外周血Th17/Treg免疫失衡的影响研究

摘要 目的：探讨与研究加减黄芪丹参饮联合优思悦治疗多囊卵巢综合征的效果及对外周血Th17/Treg免疫失衡的影响。方法：选择2018年7月到2022年1月在本院诊治的多囊卵巢综合征患者66例作为研究对象,根据1:1简单分配原则把患者分为中药组与对照组各33例。对照组给予优思悦治疗,中药组在对照组治疗的基础上给予加减黄芪丹参饮治疗,所有患者都治疗观察3个月经周期,测定与计算外周血Th17/Treg免疫失衡情况。结果：治疗后中药组的总有效率为100.0%,与对照组的81.8%相比明显增高（P<0.05）。两组治疗后的Th17/Treg值都明显低于治疗前（P<0.05）,中药组与对照组相比也明显降低（P<0.05）。两组治疗后的子宫内膜厚度与最大卵泡直径都明显高于治疗前（P<0.05）,治疗后中药组与对照组相比也明显提高（P<0.05）。两组治疗后的血清雌二醇(E₂)含量明显高于治疗前（P<0.05）,血清催乳素（PRL）含量明显低于治疗前（P<0.05）,治疗后中药组与对照组都有明显差异差异（P<0.05）。结论：加减黄芪丹参饮联合优思悦治疗多囊卵巢综合征能有效调节外周血Th17/Treg免疫失衡,促进性激素分泌正常,提高患者的子宫内膜厚度与最大卵泡直径,提高患者的总体治疗效果。     

保护素DX对类风湿关节炎大鼠模型中PI3K/AKT/mTOR信号通路的影响

摘要 目的：研究保护素DX（PDX）对类风湿关节炎（RA）大鼠模型的治疗作用及机制,及其对PI3K/AKT/mTOR信号通路的影响。方法：通过皮下注射牛Ⅱ型胶原与弗氏完全佐剂诱导RA大鼠模型,建模后将SD大鼠随机分为4组：对照组（n=12）：正常SD大鼠;RA组（n=12）：RA模型大鼠;低剂量PDX处理组（n=12,L-PDX组）：接受10 μg/kg/d PDX治疗的RA模型大鼠;高剂量PDX处理组（n=12,H-PDX）：接受20 μg/kg/d PDX治疗的RA模型大鼠。各组大鼠治疗4周后,采用ELISA法检测血清中IgA、IgG、IgM、TNF-α、IFN-γ、IL-4和IL-10的水平。通过苏木精伊红（HE）染色评价大鼠踝关节病变。通过免疫组化染色或Western blot检测滑膜组织中PI3K、p-PI3K、AKT、p-AKT、mTOR、p-mTOR、Bcl-2、Bax、LC3-I、LC3-II和Becline-1的表达。结果：与RA组相比,L-PDX组和H-PDX组的关节炎指数（AI）评分均显著降低（P<0.05）,炎性细胞浸润、软骨破坏程度及滑膜上皮细胞增生减轻。与RA组相比,L-PDX组和H-PDX组的血清IgA、IgG和IgM含量均降低（P<0.05）。与RA组相比,L-PDX组和H-PDX组的血清TNF-α和IFN-γ水平均降低,IL-4和IL-10水平均升高（P<0.05）。与RA组相比,L-PDX组和H-PDX组大鼠踝关节滑膜组织中的p-PI3K/PI3K、p-AKT/AKT、p-mTOR/mTOR和Bcl-2的蛋白相对表达量均降低,而Bax、LC3-II/LC3-I和Becline-1的蛋白相对表达量均升高（P<0.05）。结论：本研究表明PDX可有效减轻RA大鼠症状,其机制与调节B淋巴细胞活化和体液免疫、纠正Th1/Th2失衡、抑制PI3K/Akt/mTOR信号通路有关。