采用微孔聚丙烯纤维材料的“四川联大Ⅰ型”管外流式(ELF)中空纤维膜式氧合器的研制

介绍了“四川联大Ⅰ型”（以下简称：ＳＵＵⅠ）管外流式（ＥＬＦ）中空纤维膜式氧合器的研制、设计、外形制做及离心封端等过程，重点介绍了中空纤维膜材料选择，膜肺离心封端的原理、材料、设备及方法，并对聚氨酯胶进行离心封端的具体步聚作了较详细的叙述。作者根据自身在国外与国内的研制经验，认为离心封端的关键在于：（１）中空纤维膜材料的质量及成束质量；（２）聚氨酯封端胶材料固化特性的掌握及料量计算；（３）反应温度控制；（４）气体排除；（５）转速的控制；（６）纤维束的安装；（７）脱模和切头的时间掌握等方面。作者用外购的材料和自己设计制造的离心封端机成功地制造了我国第一个管外流式（ＥＬＦ）中空纤维成人氧合器。ＳＵＵⅠ膜式氧合器的设计是作者在国外建立的交叉流式膜肺Ｏ２、ＣＯ２传递模型的具体应用。     

Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage

The bone morphogenetic proteins (BMPs), TGFβ superfamily members, play diverse roles in embryogenesis, but how the BMPs exert their action is unclear and how different BMP receptors (BMPRs) contribute to this process is not known. Here we demonstrate that the two type I BMPRs, BMPR-IA and BMPR-IB, regulate distinct processes during chick limb development. BmpR-IB expression in the embryonic limb prefigures the future cartilage primordium, and its activity is necessary for the initial steps of chondrogenesis. During later chondrogenesis, BmpR-IA is specifically expressed in prehypertrophic chondrocytes. BMPR-IA regulates chondrocyte differentiation, serving as a downstream mediator of Indian Hedgehog (IHH) function in both a local signaling loop and a longer-range relay system to PTHrP. BMPR-IB also regulates apoptosis: Expression of activated BMPR-IB results in increased cell death, and we showed previously that dominant-negative BMPR-IB inhibits apoptosis. Our studies indicate that in TGFβ signaling systems, different type I receptor isoforms are dedicated to specific functions during embryogenesis.     

Pleiotropic genomic variants at 17q21.31 associated with bone mineral density and body fat mass: a bivariate genome-wide association analysis

Osteoporosis and obesity are two severe complex diseases threatening public health worldwide. Both diseases are under strong genetic determinants as well as genetically correlated. Aiming to identify pleiotropic genes underlying obesity and osteoporosis, we performed a bivariate genome-wide association (GWA) meta-analysis of hip bone mineral density (BMD) and total body fat mass (TBFM) in 12,981 participants from seven samples, and followed by in silico replication in the UK biobank (UKB) cohort sample (N = 217,822). Combining the results from discovery meta-analysis and replication sample, we identified one novel locus, 17q21.31 (lead SNP rs12150327, {"type":"entrez-nucleotide","attrs":{"text":"NC_000017.11","term_id":"568815581"}}NC_000017.11:g.44956910G > A, discovery bivariate P = 4.83 × 10⁻⁹, replication P = 5.75 × 10⁻⁵) at the genome-wide significance level (ɑ = 5.0 × 10⁻⁸), which may have pleiotropic effects to both hip BMD and TBFM. Functional annotations highlighted several candidate genes, including KIF18B, C1QL1, and PRPF19 that may exert pleiotropic effects to the development of both body mass and bone mass. Our findings can improve our understanding of the etiology of osteoporosis and obesity, as well as shed light on potential new therapies.Subject terms: Genome-wide association studies, Gene expression profiling     

Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD

Creutzfeldt-Jakob disease (CJD), the most common human prion disease, includes sporadic (s) and familial (f) forms. Regardless of etiology, both forms are thought to share the pathogenic mechanism whereby the cellular prion protein (PrP(C)) converts into its pathogenic isoform (PrP(Sc)). While PrP(C) conversion is thought to be random in sCJD, conversion in fCJD is facilitated by the congenital presence of mutated PrP. Differences in PrP genotype (PRNP) and in conversion circumstances lead to PrP(Sc) with distinct characteristics that elicit different disease phenotypes. Here, we describe a case of fCJD with a substitution of histidine (H) for arginine (R) at codon 148 (R148H) and heterozygosity of the methionine/valine (M/V) polymorphic codon 129, with the 129M allele coupled with the mutation. The disease phenotype and all major characteristics of PrP(Sc) of fCJD(R148H) were virtually indistinguishable from those of sCJDMV2, which has features different from those of any other sCJD. Therefore, despite the differences in etiology, PRNP, and conversion process, the two forms of PrP(Sc) had similar characteristics. Furthermore, comparison of fCJD(R148H) with a recently reported case carrying R148H and homozygosity at codon 129 suggests that codon 129 coupled with the mutation as well as that located on the normal allele can modify major phenotypic and PrP(Sc) features of fCJD(R148H).     

企业员工应对方式与心理健康之间的关系

目的：验证不同应对方式对心理健康的单独与共同影响。方法：对4745名被试用分层回归的方法分析不同应对方式对心理健康的单独影响和交互作用。结论：单独使用“消极应对”的应对方式,对心理健康水平存在不利影响;而单独使用“积极应对”的应对方式能在一定程度上改善心理健康水平。“消极应对”与“积极应对”两种应对方式结合使用能显著改善心理健康水平,比单独使用这两种应对方式对心理健康更有利。     

Ⅲ型胶原肾小球病的形态学观察

目的了解Ⅲ型胶原肾小球病的形态学改变,并对Ⅲ型胶原可能的细胞来源进行初步探讨。方法对3例肾活检组织进行光镜、免疫荧光、电镜和Ⅰ、Ⅲ、Ⅳ型胶原及d平滑肌肌动蛋白(α-SMA)的免疫组织化学染色(SP法)观察。结果2例患者临床表现为肾病综合征,其中1例伴高血压,第3例表现为肾功能不全和肾性高血压。3例均无肾病家族史。光镜检查可见肾小球基膜内和系膜区弥漫性过碘酸-希夫反应阳性物质沉积,系膜细胞无明显增生。电镜检查在基膜内疏松层和系膜区可见大量胶原纤维沉积,系膜细胞胞膜下平行排列的束状微丝明显增加。免疫组织化学显示这些胶原纤维为Ⅲ型胶原,Ⅰ型和Ⅳ型胶原阴性,同时系膜区多数系膜细胞α-SMA阳性。结论Ⅲ型胶原肾小球病光镜、电镜及免疫组织化学上都有其特殊的病理改变。肾小球内激活的系膜细胞可能是Ⅲ型胶原的来源。     

Atypical angiomyolipoma of kidney in a patient with tuberous sclerosis: a case report with p53 gene mutation analysis

Angiomyolipoma (AML) is the most common benign mesenchymal tumor of the kidney. It belongs to the family of perivascular epithelioid cell tumors and is typically composed of blood vessels, adipose tissue, and smooth muscle- like cells, which are characteristically positive for HMB-45. Results of recent studies suggest that p53 mutation may play an important role in AML progression. Here, we describe a locally destructive renal AML in a patient with tuberous sclerosis. The tumor consisted of mostly epithelioid cells with marked nuclear pleomorphism and frequent mitoses and was positive for HMB-45. The diagnosis of atypical epithelioid AML was made. Codon alteration in the p53 gene was not detected, despite focal p53 immunoreactivity and single nucleotide polymorphism at exon 6. Our finding indicates no definite link between p53 abnormalities and the atypical appearance of AML. To the best of our knowledge, this is the second renal AML case investigated for p53 mutations.     

肿瘤坏死因子与肾小球系膜细胞的关系

目的研究肾小球系膜细胞的肿瘤坏死因子的自分泌功能,肿瘤坏死因子对肾小球系膜细胞作用的机制。方法利用体外培养的人和大鼠的肾小球系膜细胞,通过逆转录－多聚酶链反应、原位杂交和免疫组化方法,探讨它们之间的关系。结果肾小球系膜细胞既可产生肿瘤坏死因子,又有肿瘤坏死因子受体。结论肾小球系膜细胞是肿瘤坏死因子作用的靶细胞,肿瘤坏死因子通过旁分泌和自分泌两种途径作用于肾小球系膜细胞。