健康老年人与老年期痴呆患者血清甲状腺激素及促甲状腺激素的变化

Inordertoinvestigateperipheralthyroxinemetabolismandpi－tuitary－thyroidaxisfunction，changesofserumT３，T４，andTSHinhealthyeldersanddementiaseniorsandtheirrelatioship，wemea－suredserumT３，T４andTSHin５０eldersolderthan８０yearsand３１dementiaelders．Hereisthereport．１Subjectandmethod１．１Subject５０healthyeldersconsistingof３８malesand１２femalesaged８０～９３，meanage（８４．７６±３．９６），wereincludedineldersgroup．Allsubjectshadnohistoryofheart，brainandkidneydiseasesandwereacc…     

Nanoparticle-mediated Gene Silencing Confers Radioprotection to Salivary Glands In Vivo

Radiation treatment of head and neck cancers causes irreversible damage of the salivary glands (SG). Here, we introduce a preclinical mouse model for small-interfering RNA (siRNA)-based gene silencing to provide protection of SG from radiation-induced apoptosis. Novel, pH-responsive nanoparticles complexed with siRNAs were introduced into mouse submandibular glands (SMG) by retroductal injection to modulate gene expression in vivo. To validate this approach, we first targeted Nkcc1, an ion transporter that is essential for saliva secretion. Nkcc1 siRNA delivery resulted in efficient knockdown, as quantified at the mRNA and the protein levels, and the functional result of Nkcc1 knockdown phenocopied the severe decrease in saliva secretion, characteristic of the systemic Nkcc1 gene knockout. To establish a strategy to prevent apoptotic cell loss due to radiation damage, siRNAs targeting the proapoptotic Pkcδ gene were administered into SMG before ionizing radiation. Knockdown of Pkcδ not only reduced the number of apoptotic cells during the acute phase of radiation damage, but also markedly improved saliva secretion at 3 months in irradiated animals, indicating that this treatment confers protection from hyposalivation. These results demonstrate that nanoparticle delivery of siRNAs targeting a proapoptotic gene is a localized, nonviral, and effective means of conferring radioprotection to the SGs.     

痛

黑暗!黑暗!!黑暗!!!这样的世界看不到半点光明。孤独的舞者终究还是孤独地倒下,然后又孤独地消失。黑暗呀,为什么老是缠绕着我?一声“妈妈”划破了天际,却也突不出黑暗的包围。谁来应我一声呀,妈妈,你在哪里呀?我的心在不停地挣扎,告诉自己:“不怕,不怕。”可这是在黑暗里呀,周     

Microduplication of Xp11.23p11.3 with effects on cognition,behavior, and craniofacial development

El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ～1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperactivity, learning and visual‐spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X‐linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over‐expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams‐Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co‐localize to presynaptic active zones, and play important roles in neurotransmitter release.     

利用CT扫描及CAD技术建立腰椎活动节段的有限元模型

目的 :探讨腰椎活动节段有限元模型的建立。方法 :选取一正常自愿者L4～L5节段为研究对象 ,通过CT扫描、图像数字化处理及计算机辅助设计建立了腰椎活动节段的有限元模型 ,通过Super SAP有限元分析软件包对模型进行了应力分析。结果 :建立了L4～L5活动节段的有限元模型 ,并分析了生理载荷下腰椎活动节段不同组成部分的应力分布。结论 :为腰椎活动节段有限元模型的建立提供了一种简便、准确的方法 ,为分析和研究该模型在各种情况下的生物力学表现创造了条件     

用液晶开关实现RDS立体成像的方法学研究

本文报道以ＲＤＳ立体图作为检测图形，用液晶开关实现其三维立体显示的一些探索性研究，用液晶开关眼镜作为立体图的同步分离部件。使得本系统建立于继时法成像的基础上，因而消除了“红绿竞争”等影响检出精度的因素；系统采用帧频作为同步切换的总控信号，使ＣＲＴ的视页切换与液晶眼镜开关同步，为此而开发出的显示寄存器编程技术解决了ＣＲＴ视页切换的超高速要求。     

Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin‐ud‐Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan. To date, of 13 loci with linkage to non‐syndromic autosomal recessive mental retardation (NS‐ARMR), only six genes have been established with associated mutations. Here we present our study on NS‐ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far‐reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS‐ARMR. In the first step, nine families (MR2‐9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS‐ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single‐nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome‐wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false‐positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS‐ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3‐p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23‐p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2‐q23.3 and 8q24.21‐q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS‐ARMR, namely MRT14, 15 and 16.