• 1 The gene family that cheats Mendel. 复制标题 收藏 收藏

    【欺骗孟德尔的基因家族。】 复制标题 收藏 收藏
    DOI:10.7554/eLife.28567 复制DOI
    作者列表:Shropshire JD,Rokas A
    BACKGROUND & AIMS: :Some alleles of the wtf gene family can increase their chances of spreading by using poisons to kill other alleles, and antidotes to save themselves.
    背景与目标: :wtf基因家族的某些等位基因可以通过使用毒药杀死其他等位基因和解毒剂来拯救自己,从而增加传播的机会。
  • 【有和没有肾结石病家族史的健康学童尿结石的危险因素。】 复制标题 收藏 收藏
    DOI:10.1007/s00467-012-2368-5 复制DOI
    作者列表:Sáez-Torres C,Grases F,Rodrigo D,García-Raja AM,Gómez C,Frontera G
    BACKGROUND & AIMS: BACKGROUND:The prevalence of lithiasis is increasing at all ages. This study aimed to assess the crystallization risk in urine from healthy school children and to determine urinary parameters that are most associated with it. METHODS:Urine samples were obtained from 184 children aged 5-12 years: a spot sample collected in the afternoon, and a 12-h overnight sample. Information was obtained regarding family histories of lithiasis. Urine volume, pH, and biochemical parameters of stone risk were measured. Crystallization risk was defined by the presence of specific urine conditions that had previously been associated with stone formation in vitro. RESULTS:Crystallization risk was observed in 15 % of spot urine samples and 54 % of 12-h samples. Metabolic abnormalities and a low urinary volume were more frequently detected in children with crystallization risk. Calcium excretion and calcium/citrate ratio were higher in children with a family history of lithiasis. CONCLUSIONS:We observed a high prevalence of crystallization risk in urine, especially in children with a family history of the disease. Low urinary volume was the factor most associated with increased risk. Adequate fluid intake at an early age may be a simple and effective measure to reduce the incidence of nephrolithiasis.
    背景与目标: 背景:石斑症的患病率在各个年龄段都在增加。这项研究旨在评估健康学童尿液中结晶的风险,并确定与其最相关的尿液参数。
    方法:从184名5-12岁的儿童中获取尿液样本:下午收集现场样本,并收集12小时的过夜样本。获得了有关石尿症家族史的信息。测量尿液体积,pH值和结石风险的生化参数。结晶风险是由以前与体外结石形成有关的特定尿液条件定义的。
    结果:在15%的现货尿液样本和54%的12小时样本中观察到结晶风险。具有结晶风险的儿童更经常检测到代谢异常和尿量低。有结石病家族史的儿童的钙排泄和钙/柠檬酸比更高。
    结论:我们观察到尿液中结晶风险的患病率很高,尤其是在有该病家族史的儿童中。低尿量是与增加风险最相关的因素。早期摄入足够的液体可能是减少肾结石症发生率的一种简单有效的措施。
  • 【滨海马里尼布拉菌(Marinilabilianitroatireducens sp。) nov。,一种从海洋太阳能盐分离器分离出的Marinilabiliaceae科的脂解细菌。】 复制标题 收藏 收藏
    DOI:10.1007/s10482-012-9834-8 复制DOI
    作者列表:Shalley S,Pradip Kumar S,Srinivas TN,Suresh K,Anil Kumar P
    BACKGROUND & AIMS: :A Gram-negative, rod shaped, motile bacterium, was isolated from a marine solar saltern sample collected from Kakinada, India. Strain AK2(T) was determined to be positive for nitrate reduction, catalase, Ala-Phe-Pro-arylamidase, β-galactosidase, β-N-acetylglucosaminidase, β-glucosidase, β-xylosidase, α-glucosidase, α-galactosidase and phosphatase activities, hydrolysis of aesculin, Tween 20/40/60/80 and urea. It was determined to be negative for oxidase, lysine decarboxylase and ornithine decarboxylase activities and could not hydrolyze agar, casein, gelatin and starch. The predominant fatty acids were identified as iso-C(15:0) (28.2 %), anteiso-C(15:0) (23.2 %), iso-C(13:0) (19.9 %) and iso-C(15:0) 3-OH (13.9 %). Strain AK2(T) was found to contain menaquinone with seven isoprene units (MK-7) as the sole respiratory quinone and phosphatidylethanolamine, one unidentified phospholipid and three unidentified lipids as polar lipids. The 16S rRNA gene sequence analysis indicated the strain AK2(T) as a member of the genus Marinilabilia and is closely related to Marinilabilia salmonicolor with pair-wise sequence similarity of 98.2 %. Phylogenetic analysis of 16S rRNA gene revealed that the strain AK2(T) clustered with M. salmonicolor. However, DNA-DNA hybridization with M. salmonicolor JCM 21150(T) showed a relatedness of 48 ± 0.5 % with respect to strain AK2(T). The DNA G+C content of the strain was determined to be 40.2 mol%. Based on the phenotypic characteristics and phylogenetic inference, it is proposed that the strain AK2(T) represents a novel species of the genus Marinilabilia, for which the name Marinilabilia nitratireducens sp. nov. is proposed. The type strain of M. nitratireducens sp. nov. is AK2(T) (= MTCC 11402(T) = JCM 17679(T)).
    背景与目标: :从印度Kakinada收集的海洋太阳能盐分离器样本中分离出革兰氏阴性,棒状,能动细菌。确定菌株AK2(T)对硝酸盐还原,过氧化氢酶,Ala-Phe-前芳酰胺酶,β-半乳糖苷酶,β-N-乙酰氨基葡糖苷酶,β-葡萄糖苷酶,β-木糖苷酶,α-葡萄糖苷酶,α-半乳糖苷酶和磷酸酶活性,七叶皂苷,Tween 20/40/60/80和尿素的水解。它被确定为氧化酶,赖氨酸脱羧酶和鸟氨酸脱羧酶活性阴性,并且不能水解琼脂,酪蛋白,明胶和淀粉。主要脂肪酸被鉴定为iso-C(15:0)(28.2%),anteiso-C(15:0)(23.2%),iso-C(13:0)(19.9%)和iso-C( 15:0)3-OH(13.9%)。发现菌株AK2(T)含有具有七个异戊二烯单元(MK-7)的甲基萘醌作为唯一的呼吸醌和磷脂酰乙醇胺,一个未确定的磷脂和三个未确定的脂质作为极性脂质。 16S rRNA基因序列分析表明,菌株AK2(T)是马里尼布拉马氏菌属的成员,与马里尼拉鲑鱼色密切相关,成对序列相似性为98.2%。 16S rRNA基因的系统发育分析表明,菌株AK2(T)与沙门氏菌成簇。但是,与鲑鱼支原体JCM 21150(T)的DNA-DNA杂交显示出与菌株AK2(T)的相关性为48±0.5%。测得该菌株的DNA G C含量为40.2mol%。根据表型特征和系统发育推论,建议菌株AK2(T)代表Marinilabilia属的一个新种,其名称为Marinilabilianitroatireducens sp。十一月被提议。硝化分枝杆菌的类型菌株。十一月是AK2(T)(= MTCC 11402(T)= JCM 17679(T))。
  • 【神经性厌食症青少年的增强认知行为疗法:家庭疗法的替代方案?】 复制标题 收藏 收藏
    DOI:10.1016/j.brat.2012.09.008 复制DOI
    作者列表:Dalle Grave R,Calugi S,Doll HA,Fairburn CG
    BACKGROUND & AIMS: :A specific form of family therapy (family-based treatment) is the leading treatment for adolescents with anorexia nervosa. As this treatment has certain limitations, alternative approaches are needed. "Enhanced" cognitive behaviour therapy (CBT-E) is a potential candidate given its utility as a treatment for adults with eating disorder psychopathology. The aim of the present study was to establish, in a representative cohort of patients with marked anorexia nervosa, the immediate and longer term outcome following CBT-E. Forty-nine adolescent patients were recruited from consecutive referrals to a community-based eating disorder clinic. Each was offered 40 sessions of CBT-E over 40 weeks from a single therapist. Two-thirds completed the full treatment with no additional input. In these patients there was a substantial increase in weight together with a marked decrease in eating disorder psychopathology. Over the 60-week post-treatment follow-up period there was little change despite minimal subsequent treatment. These findings suggest that CBT-E may prove to be a cost-effective alternative to family-based treatment.
    背景与目标: :一种特殊形式的家庭治疗(基于家庭的治疗)是神经性厌食症青少年的主要治疗方法。由于这种治疗有一定的局限性,因此需要其他方法。鉴于“增强型”认知行为疗法(CBT-E)可用于患有饮食失调症的心理病理学成年人,因此是一种潜在的候选药物。本研究的目的是在具有明显神经性厌食症的患者的代表性队列中建立CBT-E术后的近期和长期预后。从连续转诊到社区饮食失调诊所招募了49名青少年患者。一位治疗师在40周内为每位患者提供了40次CBT-E疗程。三分之二的人完成了全部治疗,没有其他投入。在这些患者中,体重显着增加,而进食障碍的精神病理学显着下降。在治疗后的60周随访期内,尽管后续治疗最少,但变化不大。这些发现表明,CBT-E可能被证明是替代基于家庭的治疗的一种经济有效的选择。
  • 【香蕉MADS-box家族的全基因组分析与果实的发育和成熟密切相关。】 复制标题 收藏 收藏
    DOI:10.1038/s41598-017-03897-1 复制DOI
    作者列表:Liu J,Zhang J,Zhang J,Miao H,Wang J,Gao P,Hu W,Jia C,Wang Z,Xu B,Jin Z
    BACKGROUND & AIMS: :Proteins encoded by MADS-box genes are important transcription factors involved in the regulation of flowering plant growth and development. Currently, no systematic information exists regarding the MADS-box family in the important tropical fruit banana. Ninety-six MADS-box genes were identified from the banana (Pahang) A genome. Phylogenetic analysis indicated that Musa acuminata MCM1-AGAMOUS- DEFICIENS-SRF (MaMADS) could be divided into MIKCc, MIKC*, Mα/β and Mγ groups. MIKCc could be further divided into 11 subfamilies, which was further supported by conserved motif and gene structure analyses. Transcriptome analysis on the Feng Jiao (FJ) and BaXi Jiao (BX) banana cultivars revealed that MaMADS genes are differentially expressed in various organs, at different fruit development and ripening stages, indicating the involvement of these genes in fruit development and ripening processes. Interactive network analysis indicated that MaMADS24 and 49 not only interacted with MaMADS proteins themselves, but also interacted with hormone-response proteins, ethylene signal transduction and biosynthesis-related proteins, starch biosynthesis proteins and metabolism-related proteins. This systematic analysis identified candidate MaMADS genes related to fruit development and ripening for further functional characterization in plants, and also provided new insights into the transcriptional regulation of MaMADS genes, facilitating the future genetic manipulation of MADS-mediated fruit development and ripening.
    背景与目标: MADS-box基因编码的蛋白质是重要的转录因子,参与开花植物生长发育的调控。目前,在重要的热带水果香蕉中,尚无有关MADS盒家族的系统信息。从香蕉(彭亨州)A基因组中鉴定出96个MADS-box基因。系统发育分析表明,Musus acuminata MCM1-AGAMOUS-DEFICIENS-SRF(MaMADS)可以分为MIKCc,MIKC *,Mα/β和Mγ组。 MIKCc可以进一步分为11个亚家族,这由保守的基序和基因结构分析进一步支持。凤角(FJ)和八喜角(BX)香蕉品种的转录组分析表明,MaMADS基因在不同器官中处于不同的果实发育和成熟阶段差异表达,表明这些基因参与了果实发育和成熟过程。交互网络分析表明,MaMADS24和49不仅与MaMADS蛋白本身相互作用,而且还与激素响应蛋白,乙烯信号转导和生物合成相关蛋白,淀粉生物合成蛋白和代谢相关蛋白相互作用。这项系统分析确定了与果实发育和成熟有关的候选MaMADS基因,以进一步在植物中进行功能表征,也为MaMADS基因的转录调控提供了新见识,从而促进了MADS介导的果实发育和成熟的未来遗传调控。
  • 【整个哺乳动物NEDD8连接酶家族中独特的N末端乙酰化依赖性相互作用的结构保守性。】 复制标题 收藏 收藏
    DOI:10.1016/j.str.2012.10.013 复制DOI
    作者列表:Monda JK,Scott DC,Miller DJ,Lydeard J,King D,Harper JW,Bennett EJ,Schulman BA
    BACKGROUND & AIMS: :Little is known about molecular recognition of acetylated N termini, despite prevalence of this modification among eukaryotic cytosolic proteins. We report that the family of human DCN-like (DCNL) co-E3s, which promote ligation of the ubiquitin-like protein NEDD8 to cullin targets, recognizes acetylated N termini of the E2 enzymes UBC12 and UBE2F. Systematic biochemical and biophysical analyses reveal 40- and 10-fold variations in affinities among different DCNL-cullin and DCNL-E2 complexes, contributing to varying efficiencies of different NEDD8 ligation cascades. Structures of DCNL2 and DCNL3 complexes with N-terminally acetylated peptides from UBC12 and UBE2F illuminate a common mechanism by which DCNL proteins recognize N-terminally acetylated E2s and how selectivity for interactions dependent on N-acetyl-methionine are established through side chains recognizing distal residues. Distinct preferences of UBC12 and UBE2F peptides for inhibiting different DCNLs, including the oncogenic DCNL1 protein, suggest it may be possible to develop small molecules blocking specific N-acetyl-methionine-dependent protein interactions.
    背景与目标: :尽管在真核细胞溶质蛋白中普遍存在这种修饰,但对乙酰化N末端的分子识别知之甚少。我们报告说,人类DCN样(DCNL)co-E3s的家族,促进泛素样蛋白NEDD8与cullin目标的连接,识别E2酶UBC12和UBE2F的乙酰化N末端。系统的生化和生物物理分析表明,不同DCNL-cullin和DCNL-E2复合物之间的亲和力变化为40倍和10倍,从而导致不同NEDD8连接级联反应的效率不同。具有来自UBC12和UBE2F的N末端乙酰化肽的DCNL2和DCNL3配合物的结构阐明了DCNL蛋白质识别N末端乙酰化E2的共同机制以及如何通过识别远端残基的侧链建立依赖N-乙酰甲硫氨酸的相互作用的选择性。 UBC12和UBE2F肽对抑制不同的DCNL(包括致癌DCNL1蛋白)的偏好不同,这表明可能开发出阻断特定N-乙酰基-蛋氨酸依赖性蛋白相互作用的小分子。
  • 【模拟复杂数据结构以计划研究,重点是生物标记物比较。】 复制标题 收藏 收藏
    DOI:10.1186/s12874-017-0364-y 复制DOI
    作者列表:Schulz A,Zöller D,Nickels S,Beutel ME,Blettner M,Wild PS,Binder H
    BACKGROUND & AIMS: BACKGROUND:There are a growing number of observational studies that do not only focus on single biomarkers for predicting an outcome event, but address questions in a multivariable setting. For example, when quantifying the added value of new biomarkers in addition to established risk factors, the aim might be to rank several new markers with respect to their prediction performance. This makes it important to consider the marker correlation structure for planning such a study. Because of the complexity, a simulation approach may be required to adequately assess sample size or other aspects, such as the choice of a performance measure. METHODS:In a simulation study based on real data, we investigated how to generate covariates with realistic distributions and what generating model should be used for the outcome, aiming to determine the least amount of information and complexity needed to obtain realistic results. As a basis for the simulation a large epidemiological cohort study, the Gutenberg Health Study was used. The added value of markers was quantified and ranked in subsampling data sets of this population data, and simulation approaches were judged by the quality of the ranking. One of the evaluated approaches, the random forest, requires original data at the individual level. Therefore, also the effect of the size of a pilot study for random forest based simulation was investigated. RESULTS:We found that simple logistic regression models failed to adequately generate realistic data, even with extensions such as interaction terms or non-linear effects. The random forest approach was seen to be more appropriate for simulation of complex data structures. Pilot studies starting at about 250 observations were seen to provide a reasonable level of information for this approach. CONCLUSIONS:We advise to avoid oversimplified regression models for simulation, in particular when focusing on multivariable research questions. More generally, a simulation should be based on real data for adequately reflecting complex observational data structures, such as found in epidemiological cohort studies.
    背景与目标: 背景技术:越来越多的观察性研究不仅关注单个生物标志物来预测结果事件,而且在多变量环境中解决问题。例如,当量化除已建立的风险因素外的新生物标记物的附加值时,目标可能是就其预测性能对几种新标记物进行排名。因此,重要的是要考虑标记物相关结构以进行此类研究。由于其复杂性,可能需要一种仿真方法来充分评估样本大小或其他方面,例如性能指标的选择。
    方法:在基于真实数据的模拟研究中,我们调查了如何生成具有实际分布的协变量以及应使用哪种生成模型进行结果计算,目的是确定获得实际结果所需的最少信息量和复杂度。大型流行病学队列研究作为模拟的基础,使用了古腾堡健康研究。对标记的增加值进行量化,并在该总体数据的子采样数据集中进行排名,并根据排名的质量来判断模拟方法。评估方法之一是随机森林,它需要各个级别的原始数据。因此,还研究了基于随机森林的模拟试验研究规模的影响。
    结果:我们发现简单的逻辑回归模型无法充分生成现实数据,即使具有交互项或非线性效应等扩展。人们认为,随机森林方法更适合于复杂数据结构的仿真。从大约250个观察值开始的试点研究被认为为该方法提供了合理水平的信息。
    结论:我们建议避免过度简化的回归模型进行仿真,尤其是在关注多变量研究问题时。更一般而言,模拟应基于真实数据,以充分反映复杂的观察数据结构,例如流行病学队列研究中发现的结构。
  • 【在系统性红斑狼疮患者及其家庭成员的大量不同集合中,传统检测与基于珠子检测之间的自身抗体特异性比较。】 复制标题 收藏 收藏
    DOI:10.1002/art.34651 复制DOI
    作者列表:Bruner BF,Guthridge JM,Lu R,Vidal G,Kelly JA,Robertson JM,Kamen DL,Gilkeson GS,Neas BR,Reichlin M,Scofield RH,Harley JB,James JA
    BACKGROUND & AIMS: OBJECTIVE:Replacement of standard immunofluorescence methods with bead-based assays for antinuclear antibody (ANA) testing is a new clinical option. The aim of this study was to evaluate a large, multiethnic cohort of patients with systemic lupus erythematosus (SLE), blood relatives, and unaffected control individuals for familial aggregation and subset clustering of autoantibodies by high-throughput serum screening technology and traditional methods. METHODS:Serum samples (1,540 SLE patients, 1,154 unaffected relatives, and 906 healthy, population-based controls) were analyzed for SLE autoantibodies using a bead-based assay, indirect immunofluorescence (IIF), and immunodiffusion. Autoantibody prevalence, sensitivity for disease detection, clustering of autoantibodies, and associations between newer methods and standard immunodiffusion results were evaluated. RESULTS:The frequencies of ANAs in the sera from African American, Hispanic, and European American patients with SLE were 89%, 73%, and 67%, respectively, by BioPlex 2200 bead-based assay and 94%, 84%, and 86%, respectively, by IIF. When comparing the serum prevalence of 60-kd Ro, La, Sm, nuclear RNP A, and ribosomal P autoantibodies across assays, the sensitivity of detection ranged from 0.92 to 0.83 and the specificity ranged from 0.90 to 0.79. Autoantibody cluster analysis showed associations of autoantibody specificities in 3 subsets: 1) 60 kd Ro, 52-kd Ro, and La, 2) spliceosomal proteins, and 3) double-stranded DNA (dsDNA), chromatin, and ribosomal P. Familial aggregation of Sm/RNP, ribosomal P, and 60-kd Ro in SLE patient sibling pairs was observed (P ≤ 0.004). Simplex-pedigree SLE patients had a greater prevalence of dsDNA (P = 0.0003) and chromatin (P = 0.005) autoantibodies compared to patients with a multiplex SLE pedigree. CONCLUSION:The frequencies of ANAs detected by a bead-based assay are lower than those detected by IIF in European American patients with SLE. These assays have strong positive predictive values across ethnic groups, provide useful information for clinical care, and provide unique insights into familial aggregation and autoantibody clustering.
    背景与目标: 目的:用基于微珠的抗核抗体(ANA)检测方法代替标准的免疫荧光方法是一种新的临床选择。这项研究的目的是通过高通量血清筛查技术和传统方法评估系统性红斑狼疮(SLE)患者,血亲和未受影响对照个体的大型,多种族队列,以进行家族聚集和自身抗体的子集聚。
    方法:使用基于珠的检测,间接免疫荧光(IIF)和免疫扩散分析血清样本(1,540名SLE患者,1,154名未受影响的亲戚和906名健康的,基于人群的对照)的SLE自身抗体。自身抗体的流行率,疾病检测的敏感性,自身抗体的聚类,以及新方法和标准免疫扩散结果之间的关联进行了评估。
    结果:通过BioPlex 2200珠基检测法,非裔,西班牙裔和欧洲裔SLE患者血清中的ANA频率分别为89%,73%和67%,分别为94%,84%和86 IIF分别为%。在整个试验中比较血清中60 kd Ro,La,Sm,核RNP A和核糖体P自身抗体的患病率时,检测的灵敏度为0.92至0.83,特异性为0.90至0.79。自身抗体簇分析显示了3个子集中的自身抗体特异性的关联:1)60 kd Ro,52 kd Ro和La,2)剪接体蛋白和3)双链DNA(dsDNA),染色质和核糖体P.家族聚集观察到SLE患者同胞对中Sm / RNP,核糖体P和60 kd Ro的变化(P≤0.004)。与具有多重SLE谱系的患者相比,单纯谱系SLE患者的dsDNA(P = 0.0003)和染色质(P = 0.005)自身抗体的患病率更高。
    结论:在美国SLE患者中,基于微珠的检测方法检测到的ANAs频率低于IIF检测的频率。这些测定法在各个族裔中都具有很强的阳性预测价值,可为临床护理提供有用的信息,并提供有关家族聚集和自身抗体聚类的独特见解。
  • 【易于在计划生育环境中插入宫内避孕器。】 复制标题 收藏 收藏
    DOI:10.1111/ajo.12007 复制DOI
    作者列表:Harvey C,Bateson D,Wattimena J,Black KI
    BACKGROUND & AIMS: BACKGROUND:Intrauterine devices (IUDs) provide highly effective contraception for women worldwide. Reluctance to insert IUDs in the primary care setting may relate to concern about potential difficulty and complications, particularly in nulliparous women. AIMS:To determine the practitioner, patient and procedural factors associated with abandoned IUD insertion, practitioner-reported difficulty of insertion and adverse events during IUD insertions in the family planning setting. METHODS:This was a prospective study over a 12-month period of consecutive IUD insertions in four family planning clinics across New South Wales and Queensland. Patient, practitioner and device-related factors associated with abandoned IUD insertion, practitioner-reported ease of insertion and immediate insertion-related adverse events were analysed using logistic regression. RESULTS:Of 996 insertion procedures, successful insertion occurred in 95%, and 90% were reported as easy by the inserting doctor, including 80% of those in nulliparous women. Patient characteristics associated with an abandoned insertion were nulliparity (AOR 5.19; 2.49-10.82) or caesarean section-only deliveries (AOR 5.38; 2.58-11.22) and with practitioner-reported difficult insertion, nulliparity alone (AOR 1.98; 1.11-3.54). Practitioners inserting fewer than 100 IUDs over the 12-month study period more frequently rated insertions as difficult (AOR 1.76; 1.08-2.88). Complications occurred in 34 women and were more likely in nulliparous women (AOR 4.51; 2.16-9.39). CONCLUSIONS:Most IUDs can be successfully inserted, even in nulliparous women, in a primary care setting. Referral to a specialist may be appropriate for some women who are nulliparous or had caesarean section-only deliveries, depending on the experience of the practitioner.
    背景与目标: 背景:宫内节育器(IUD)为全世界的妇女提供了高效的避孕方法。不愿意在基层医疗机构中插入宫内节育器可能与担心潜在的困难和并发症有关,特别是在未产妇中。
    目的:确定计划生育环境中与遗弃IUD插入,执业者报告的插入困难和IUD插入过程中的不良事件相关的执业者,患者和程序因素。
    方法:这是一项在新南威尔士州和昆士兰州的四个计划生育诊所连续放置宫内节育器12个月期间的一项前瞻性研究。使用logistic回归分析与被遗弃的宫内节育器插入,与医生报告的插入容易程度以及即刻插入相关的不良事件相关的患者,从业者和设备相关因素。
    结果:996例插入手术中,成功插入的发生率为95%,插入医生报告为90%容易插入,其中包括80%的未生育妇女。与被遗弃的插入相关的患者特征为无效(AOR 5.19; 2.49-10.82)或仅剖腹产(AOR 5.38; 2.58-11.22),以及从业者报告的困难插入,仅无效(AOR 1.98; 1.11-3.54)。从业者在12个月的研究期间插入少于100个宫内节育器的频率更高,其插入难度为(AOR 1.76; 1.08-2.88)。并发症发生在34名女性中,并且在未产妇中更可能发生(AOR 4.51; 2.16-9.39)。
    结论:即使在未产妇中,大多数IUD都可以在基层医疗机构中成功插入。根据从业者的经验,对于一些未生育或仅剖腹产的妇女,转诊专家可能是合适的。
  • 【锻炼小组的动力学有多动态?在基于班级的锻炼计划中检查内聚力的变化。】 复制标题 收藏 收藏
    DOI:10.1037/a0030412 复制DOI
    作者列表:Dunlop WL,Falk CF,Beauchamp MR
    BACKGROUND & AIMS: OBJECTIVE:Within exercise class settings, group cohesion has consistently been found to predict adherence behaviors, and has been identified as a salient target for intervention-based initiatives. Drawing upon theorizing from the field of group dynamics, exercise class cohesion is often conceptualized as a dynamic construct that requires several classes to form and once it is formed, continues to change over time. Despite the salience of this "dynamic" contention for informing physical activity interventions, this theorizing has yet to be empirically tested. METHOD:In this study a multilevel modeling framework was used to examine changes in exercise class cohesion over time. Exercisers (N = 395) completed measures of cohesion following the second, fifth, and eighth classes of their respective programs (N = 46). RESULTS:Mean levels of social cohesion changed significantly over time whereas mean levels of task cohesion did not. These patterns were largely consistent across persons and groups. CONCLUSIONS:These findings suggest that within group-based exercise programs social and task cohesion possesses different levels of dynamism, and that this dynamism (or lack thereof) might have important implications for future research and interventions involving physical activity groups.
    背景与目标: 目的:在锻炼班级设置中,始终发现小组凝聚力可以​​预测依从行为,并已被确定为基于干预措施的重要目标。借鉴团体动力学领域的理论,运动课的凝聚力通常被概念化为一种动态的构造,需要形成多个班级,一旦形成,它就会随着时间的推移而不断变化。尽管这种“动态”竞争对于体育锻炼的干预非常重要,但是这种理论化还没有经过经验检验。
    方法:在这项研究中,使用了一个多层次的建模框架来检验运动课内聚力随时间的变化。锻炼者(N = 395)在各自程序的第二,第五和第八类(N = 46)之后完成了对内聚力的测量。
    结果:社交凝聚力的平均水平随时间变化显着,而任务凝聚力的平均水平没有变化。这些模式在个人和群体之间基本保持一致。
    结论:这些发现表明,在基于小组的锻炼计划中,社交和任务的凝聚力具有不同程度的活力,这种活力(或缺乏这种活力)可能对涉及体育活动群体的未来研究和干预措施具有重要意义。
  • 【Src家族激酶介导的造血干细胞动员的负调控涉及内在因素和微环境因素。】 复制标题 收藏 收藏
    DOI:10.1016/j.exphem.2007.03.017 复制DOI
    作者列表:Borneo J,Munugalavadla V,Sims EC,Vemula S,Orschell CM,Yoder M,Kapur R
    BACKGROUND & AIMS: OBJECTIVE:The intracellular signals that contribute to granulocyte colony-stimulating factor (G-CSF) receptor induced stem cell mobilization are poorly characterized. METHODS:We show enhanced G-CSF induced mobilization of stem cells in mice deficient in expression of Src family kinases (SFK-/-), which is associated with hypersensitivity of SFK-/- bone marrow cells to G-CSF as well as sustained activation of signal transducer and activator of transcription-3. RESULTS:A proteome map of the bone marrow fluid derived from wild-type and SFK-/- mice revealed a significant global reduction in the number of proteins in SFK-/- mice compared to controls, which was associated with elevated matrix metalloproteinase-9 levels, reduced stromal-derived factor-1 expression, and enhanced breakdown of vascular cell adhesion molecule-1. Transplantation of wild-type or SFK-/- stem cells into wild-type mice and treatment with G-CSF recapitulated the G-CSF-induced increase in stem cell mobilization noted in SFK-/- nontransplanted mice; however, the increase was significantly less. G-CSF treatment of SFK-/- mice engrafted with wild-type stem cells also demonstrated a modest increase in stem cell mobilization compared to controls, however, the observed increase was greatest in mice completely devoid of SFKs. CONCLUSIONS:These data suggest an involvement of both hematopoietic intrinsic and microenvironmental factors in Src kinase-mediated mobilization of stem cells and identify Src kinases as potential targets for modulating stem cell mobilization.
    背景与目标: 目的:促成粒细胞集落刺激因子(G-CSF)受体诱导干细胞动员的细胞内信号的特征较差。
    方法:我们显示了增强的G-CSF诱导缺乏Src家族激酶(SFK-/-)表达的小鼠干细胞动员,这与SFK-/-骨髓细胞对G-CSF的超敏性以及持续性有关激活信号转导子和转录激活子3。
    结果:从野生型和SFK-/-小鼠中提取的骨髓液的蛋白质组图谱显示,与对照组相比,SFK-/-小鼠中蛋白质的数量总体上显着减少,这与基质金属蛋白酶9升高有关水平,减少基质衍生因子1表达,并增强血管细胞粘附分子1的分解。将野生型或SFK-/-干细胞移植到野生型小鼠中并进行G-CSF处理,概括了G-CSF诱导的SFK-/-非移植小鼠中干细胞动员的增加;但是,增加幅度明显较小。对植入野生型干细胞的SFK-/-小鼠进行G-CSF处理,与对照组相比,干细胞动员也有适度的增加,但是,观察到的这种增加在完全没有SFK的小鼠中最大。
    结论:这些数据表明造血的内在因素和微环境因素都参与了Src激酶介导的干细胞动员,并确定Src激酶是调节干细胞动员的潜在靶标。
  • 【重复基因家族成员的高水平转录赋予了植物油菜的愈伤组织脱水耐受性。】 复制标题 收藏 收藏
    DOI:10.1093/emboj/16.12.3599 复制DOI
    作者列表:Furini A,Koncz C,Salamini F,Bartels D
    BACKGROUND & AIMS: An experimental system has been developed which allows the identification of intermediates in the abscisic acid (ABA) signal transduction pathway leading to desiccation tolerance in plants. Desiccation tolerance in callus of the resurrection plant Craterostigma plantagineum is mediated via the plant hormone ABA, which induces the expression of gene products related to desiccation tolerance. Based on T-DNA activation tagging, a gene (CDT-1) was isolated which encodes a signalling molecule in the ABA transduction pathway. Constitutive overexpression of CDT-1 leads to desiccation tolerance in the absence of ABA and to the constitutive expression of characteristic transcripts. CDT-1 represents a novel gene with unusual features in its primary sequence. The CDT-1 gene resembles in several features SINE retrotransposons. Mechanisms by which CDT-1 activates the pathway could be via a regulatory RNA or via a short polypeptide.

    背景与目标: 已经开发了一种实验系统,该系统允许鉴定脱落酸(ABA)信号转导途径中的中间体,导致植物中的脱水耐受性。复活植物Craterostigma plantagineum愈伤组织中的干燥耐性是通过植物激素ABA介导的,ABA诱导了与干燥耐性有关的基因产物的表达。基于T-DNA激活标记,分离了一个基因(CDT-1),该基因在ABA转导途径中编码一个信号分子。 CDT-1的组成型过表达会导致在不存在ABA的情况下产生脱水耐受性,并导致特征性转录本的组成型表达。 CDT-1代表一个在其主要序列中具有异常特征的新基因。 CDT-1基因在几个特征上类似于SINE逆转座子。 CDT-1激活该途径的机制可能是通过调控RNA或通过短多肽。

  • 【阳性家族史与早期发病的前列腺癌的组织病理学和临床过程的关系】 复制标题 收藏 收藏
    DOI:10.1007/s00120-006-1190-8 复制DOI
    作者列表:Herkommer K,Paiss T,Merz M,Gschwend JE,Kron M
    BACKGROUND & AIMS: BACKGROUND:In a large number of studies a positive family history is documented as one of the main risk factors for the development of prostate cancer. In a US population an association between early-onset prostate cancer among familial patients and a more differentiated tumour was shown. The aim of this study was to compare clinical parameters between sporadic and familial or hereditary patients with an age at diagnosis < or =55 years. MATERIAL AND METHODS:The clinical data of prostate cancer patients with an age at diagnosis < or =55 years and who were recruited between July 1999 and the end of June 2004 to the database "familial prostate cancer in Germany" were analysed. The following data were documented for all patients: PSA at diagnosis, histopathological stage, grading, Gleason score and progression-free survival. RESULTS:The clinical data of 685 patients could be completed: 222 (32.4%) had one first-degree relative with prostate cancer, 48 of whom (7.0%) were hereditary; 463 (67.6%) were sporadic. The median age at diagnosis in the hereditary patients was 51.6 (41-55) years, in the familial patients 51.1 (35-55) years and in the sporadic patients 52.0 (38-55) years. The median follow-up was 24 months in hereditary, 36 months in familial and 35 months in sporadic patients. An initial curative therapy with radical prostatectomy or radiotherapy/brachytherapy was planned in 657/685 (95.9%) of the patients. There were no clear differences regarding PSA at diagnosis, the postoperative parameters (organ-confined disease, lymph node involvement, Gleason score, grading) and the progression-free survival in sporadic and familial or hereditary patients. CONCLUSIONS:Patients with an age at diagnosis < or =55 years have a positive family history more often than all prostate cancer patients in Germany. No association could be shown between pathohistological stage or clinical course and a positive family history in patients with an age at diagnosis < or =55 years.
    背景与目标: 背景:在大量研究中,家族史阳性被证明是前列腺癌发展的主要危险因素之一。在美国人群中,家族性患者中的早发性前列腺癌与分化程度更高的肿瘤之间存在关联。这项研究的目的是比较诊断年龄小于或等于55岁的散发性和家族性或遗传性患者的临床参数。
    材料与方法:分析了1999年7月至2004年6月在数据库“德国家族性前列腺癌”中招募的,诊断年龄≤55岁的前列腺癌患者的临床资料。记录了所有患者的以下数据:诊断时的PSA,组织病理学阶段,分级,格里森评分和无进展生存期。
    结果:685例患者的临床资料可以完成:222例(32.4%)一级前列腺癌患者,其中48例(7.0%)是遗传性的。 463例(67.6%)为散发性。遗传患者的诊断中位年龄为51.6(41-55)岁,家族患者为51.1(35-55)岁,散发患者为52.0(38-55)岁。中位随访时间为遗传性24个月,家族性36个月,散发性患者35个月。 657/685(95.9%)的患者计划采用根治性前列腺切除术或放射疗法/近距离放射疗法进行初步治疗。在散发性,家族性或遗传性患者中,PSA的诊断,术后参数(器官受限疾病,淋巴结受累,格里森评分,分级)和无进展生存期无明显差异。
    结论:在德国,诊断年龄小于或等于55岁的患者具有阳性家族史的频率高于所有前列腺癌患者。在诊断年龄≤55岁的患者中,病理组织学阶段或临床病程与阳性家族史之间没有关联。
  • 【家庭中的BRCA1:对心理影响的案例描述。】 复制标题 收藏 收藏
    DOI:10.1002/(sici)1096-8628(19970711)71:1<63::aid-ajmg 复制DOI
    作者列表:DudokdeWit AC,Tibben A,Frets PG,Meijers-Heijboer EJ,Devilee P,Klijn JG,Oosterwijk JC,Niermeijer MF
    BACKGROUND & AIMS: Our experience with the first family in the Netherlands for whom predictive DNA-testing for Hereditary Breast and Ovarian Cancer (HBOC) became an option is described. This serves to illustrate the complex emotional impact on a family as a whole, and upon the members separately, of becoming aware that breast and ovarian cancer is hereditary, and the implications of undergoing predictive testing. All family members received genetic counseling and were offered pre- and post-test psychological follow-up. We observed two important roles within the family. One member became "the messenger of the news" informing the relatives of the hereditary character of cancer in the family. Another was "the first utilizer" of the new options; namely, the predictive DNA-test and preventive surgery. This first utilizer became the example to the rest of the family. Decisions made about preventive treatment (prophylactic ovariectomy and/or mastectomy) were based on the experiences within the family, whether one identified with an affected family member with breast or with ovarian cancer. The actions and reactions perceived were illustrative of what kind of support provisions should be provided in addition to the genetic and oncological counseling for HBOC. Moreover HBOC should be considered both as an individual and a family problem and be treated as such in genetic counseling.

    背景与目标: 描述了我们在荷兰的第一个家庭的经历,对于他们,遗传性乳腺癌和卵巢癌(HBOC)的DNA预测检测成为了选择。这有助于说明认识到乳腺癌和卵巢癌是遗传性的,对整个家庭以及对成员分别造成的复杂情感影响,以及进行预测性测试的意义。所有家庭成员都接受了遗传咨询,并接受了测试前和测试后的心理随访。我们观察到家庭中的两个重要角色。一名成员成为“新闻的使者”,告知亲戚家中癌症的遗传特征。另一个是新选择的“第一利用者”。即预测性DNA测试和预防性手术。第一位利用者成为家庭其他成员的榜样。关于预防性治疗(预防性卵巢切除术和/或乳房切除术)的决定取决于家庭的经验,无论是与患乳腺癌或卵巢癌的家庭成员一起确定的。所感知到的行动和反应说明了除HBOC的遗传和肿瘤学咨询外还应提供什么样的支持规定。此外,HBOC应该既是个人问题,又是家庭问题,在遗传咨询中应同样对待。

  • 【在易患黑色素瘤的家族中鉴定出CDKN2A基因的新型缺失。】 复制标题 收藏 收藏
    DOI:10.1002/gcc.20379 复制DOI
    作者列表:Knappskog S,Geisler J,Arnesen T,Lillehaug JR,Lønning PE
    BACKGROUND & AIMS: :Linkage to the CDKN2A locus has been demonstrated in approximately 50% of families with hereditary malignant melanoma but only a subgroup of these harbor identified mutations. We here report a Norwegian melanoma-prone family with a novel large germline deletion removing 13707 bps of the CDKN2A gene, including exon 1alpha and approximately half of exon 2. Our finding is the first reported large CDKN2A germline deletion with a breakpoint located within an exon. This type of deletion is not detectable through the direct exon sequencing and may also escape identification by use of multiplex ligation-dependent probe amplification (MLPA) analysis. Here, the defect was identified through detection of a truncated p14(ARF) mRNA and loss of p16(INK4a) mRNA expression from the affected allele. Our finding suggests that atypical, large deletions in the CDKN2A gene may explain linkage to the 9p21 chromosome band without identified gene mutations among melanoma-prone families. Thus, it illustrates the need to include p14(ARF)- and p16(INK4a) transcript analysis when searching for unknown mutations within the CDKN2A locus in melanoma-prone families. Similar deletions with atypical breakpoints may affect other genes involved in cancer disposition, and the need to examine gene transcripts in high-risk families with no mutation identified through conventional testing should be considered.
    背景与目标: :与CDKN2A基因座的联系已在大约50%的遗传性恶性黑色素瘤家庭中得到证实,但这些港口中只有一个亚群可识别出突变。我们在此报告了一个挪威黑素瘤易感家族,该家族具有新颖的大种系缺失,删除了13707 bps的CDKN2A基因,包括外显子1alpha和外显子2的一半。 。通过直接外显子测序无法检测到这种类型的缺失,并且也可以通过使用多重连接依赖性探针扩增(MLPA)分析来逃避鉴定。在这里,缺陷的检测是通过检测受影响的等位基因中被截短的p14(ARF)mRNA和p16(INK4a)mRNA表达的缺失来确定的。我们的发现表明,CDKN2A基因中的非典型大缺失可能解释了与9p21染色体带的连锁,而黑素瘤易感家族中未发现基因突变。因此,它说明了在易发黑素瘤家族的CDKN2A基因座中寻找未知突变时,需要包括p14(ARF)-和p16(INK4a)转录本分析。具有非典型断点的类似缺失可能会影响涉及癌症治疗的其他基因,因此应考虑检查高危家庭中基因转录本的需要,而这些基因没有通过常规检测鉴定出的突变。

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