• 【欧洲男性和非洲女性对非裔美国人基因组的贡献增加。】 复制标题 收藏 收藏
    DOI:10.1007/s00439-006-0261-7 复制DOI
    作者列表:Lind JM,Hutcheson-Dilks HB,Williams SM,Moore JH,Essex M,Ruiz-Pesini E,Wallace DC,Tishkoff SA,O'Brien SJ,Smith MW
    BACKGROUND & AIMS: :The differential relative contribution of males and females from Africa and Europe to individual African American genomes is relevant to mapping genes utilizing admixture analysis. The assessment of ancestral population contributions to the four types of genomic DNA (autosomes, X and Y chromosomes, and mitochondrial) with their differing modes of inheritance is most easily addressed in males. A thorough evaluation of 93 African American males for 2,018 autosomal single nucleotide polymorphic (SNP) markers, 121 X chromosome SNPs, 10 Y chromosome haplogroups specified by SNPs, and six haplogroup defining mtDNA SNPs is presented. A distinct lack of correlation observed between the X chromosome and the autosomal admixture fractions supports separate treatment of these chromosomes in admixture-based gene mapping applications. The European genetic contributions were highest (and African lowest) for the Y chromosome (28.46%), followed by the autosomes (19.99%), then the X chromosome (12.11%), and the mtDNA (8.51%). The relative order of admixture fractions in the genomic compartments validates previous studies that suggested sex-biased gene flow with elevated European male and African female contributions. There is a threefold higher European male contribution compared with European females (Y chromosome vs. mtDNA) to the genomes of African American individuals meaning that admixture-based gene discovery will have the most power for the autosomes and will be more limited for X chromosome analysis.
    背景与目标: : 非洲和欧洲的男性和女性对非裔美国人单个基因组的不同相对贡献与利用混合分析定位基因有关。在男性中,最容易解决祖先种群对四种类型的基因组DNA (常染色体,X和Y染色体以及线粒体) 及其不同遗传方式的贡献的评估。提出了对93名非洲裔美国男性的2,018个常染色体单核苷酸多态性 (SNP) 标记,121个X染色体SNP,10个由SNP指定的Y染色体单倍群以及6个定义mtDNA SNP的单倍群的全面评估。在X染色体和常染色体混合组分之间观察到的明显缺乏相关性支持在基于混合的基因作图应用中对这些染色体进行单独处理。欧洲对Y染色体的遗传贡献最高 (非洲最低) (28.46%),其次是常染色体 (19.99%),然后是X染色体 (12.11%) 和mtDNA (8.51%)。基因组区室中混合组分的相对顺序验证了先前的研究,这些研究表明,性别偏向的基因流具有较高的欧洲男性和非洲女性贡献。与欧洲女性相比,欧洲男性对非裔美国人个体基因组的贡献高出三倍 (Y染色体与mtDNA),这意味着基于混合物的基因发现将对常染色体具有最大的力量,并且对X染色体分析。
  • 【单纯性前脑畸形和单纯性低毛丝菌病的连续基因综合征: 与18p11.3缺失有关。】 复制标题 收藏 收藏
    DOI:10.1002/ajmg.a.31386 复制DOI
    作者列表:Kantaputra PN,Limwongse C,Tochareontanaphol C,Mutirangura A,Mevatee U,Praphanphoj V
    BACKGROUND & AIMS: :We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation.
    背景与目标: : 我们报告了一名具有独特特征组合的患者,包括小头畸形; 智力低下; 额叶发育不良; 垂体发育不良; 甲状腺功能减退; 普遍脱发; 单个上颌中切牙; 牛角牙症; 正中腭嵴; 纵向开槽的指甲; 和脊柱侧弯。发现他的不平衡核型为45,XY,der(15;18)(q10;q10)。异常星座似乎代表了一个连续的基因综合征,至少部分是由TGIF和负责遗传性低毛丝菌病的基因缺失引起的。我们患者的表型不同于其他报告的del患者 (18p)。可能的解释包括 (1) 不同缺失区域的影响,(2) 由接近的基因引起的位置效应,或 (3) 由染色体易位引起的不同基因的中断。
  • 【躁狂抑郁症与GABRbeta-1基因高度多态性标记之间的遗传关联研究。】 复制标题 收藏 收藏
    DOI:10.1002/(sici)1096-8628(19970531)74:3<342::aid-ajm 复制DOI
    作者列表:Puertollano R,Visedo G,Zapata C,Fernández-Piqueras J
    BACKGROUND & AIMS: We report on an association study between a tetranucleotide repeat polymorphism in the GABR beta1 gene and manic-depressive illness in a Spanish population. This gene may be an important candidate for bipolar affective disorders since severe GABergic alterations have been described in patients. Although our results do not reveal a clear evidence for association between manic-depressive illness and GABR beta1, we have found significant differences between patients and controls in the female subpopulation.

    背景与目标: 我们报告了一项西班牙人群中GABR beta1基因的四核苷酸重复多态性与躁狂抑郁症之间的关联研究。该基因可能是双相情感障碍的重要候选者,因为已经在患者中描述了严重的GABergic改变。尽管我们的结果并未揭示出躁狂抑郁症与GABR beta1之间存在关联的明确证据,但我们发现女性亚群的患者与对照组之间存在显着差异。
  • 【抑郁症状是非洲裔美国青少年和年轻人性风险的预测指标。】 复制标题 收藏 收藏
    DOI:10.1016/j.jadohealth.2006.01.015 复制DOI
    作者列表:Brown LK,Tolou-Shams M,Lescano C,Houck C,Zeidman J,Pugatch D,Lourie KJ,Project SHIELD Study Group.
    BACKGROUND & AIMS: PURPOSE:To understand the prospective relationship between depressive symptoms and sexual risk behavior among a community sample of African American adolescents. METHODS:African American adolescents (n = 415) who participated in a larger multi-site human immunodeficiency virus (HIV) prevention program provided baseline data on demographics, psychosocial context and depressive symptoms. At six-month follow-up, data were collected regarding sexual activity in the past 90 days. Multivariate logistic regression was conducted to determine the prospective relationship between depressive symptoms and proportion of condom use while controlling for relevant demographic and contextual factors. RESULTS:The odds that African American adolescents who reported depressive symptoms at baseline would report inconsistent condom use at six-month follow-up was approximately four times greater than that of their peers who did not report depressive symptoms. Older adolescents and females were less likely to use condoms consistently and certain contextual factors, such as less pleasurable expectations about condom use, and living with a partner also heightened HIV/STI risk. CONCLUSIONS:Clinicians should assess for depression symptoms in African American adolescent patients as an indicator of future sexual risk. Prevention interventions that address depressed mood could have a significant impact on later HIV/STI sexual risk behaviors. Further research is needed to understand the effect of depressive symptoms on sexual risk among adolescents of other race/ethnicities and to examine the potential cultural forces that affect this relationship.
    背景与目标:
  • 【关系质量,激素避孕选择和青少年妇女不使用避孕套的发展关联。】 复制标题 收藏 收藏
    DOI:10.1016/j.jadohealth.2005.12.027 复制DOI
    作者列表:Sayegh MA,Fortenberry JD,Shew M,Orr DP
    BACKGROUND & AIMS: PURPOSE:Consistent condom use is critical to efforts to prevent sexually transmitted infections among adolescents, but condom use may decline as relationships and contraceptive needs change. The purpose of this research is to assess changes in condom non-use longitudinally in the context of changes in relationship quality, coital frequency and hormonal contraceptive choice. METHODS:Participants were women (aged 14-17 years at enrollment) recruited from three urban adolescent medicine clinics. Data were collected at three-month intervals using a face-to-face structured interview. Participants were able to contribute up to 10 interviews, but on average contributed 4.2 interviews over the 27-month period. Independent variables assessed partner-specific relationship quality (five items; scale range 5-25; alpha = .92, e.g., this partner is a very important person to me); and, number of coital events with a specific partner. Additional items assessed experience with oral contraceptive pills (OCP) use and injected depo medroxy-progesterone acetate (DMPA). The outcome variable was number of coital events without condom use during the past three months. Analyses were conducted as a three-level hierarchical linear growth curve model using HLM 6. The Level 1 predictor was time, to test the hypothesis that condom non-use increases over time. Level 2 predictors assessed relationship quality and coital frequency across all partners to assess hypotheses that participants' condom non-use increases over time as a function of relationship quality and coital frequency. Level 3 predictors assessed the participant-level influence of OCP or DMPA experience on time-related changes in condom non-use. RESULTS:A total of 176 women reported 279 sex partners and contributed 478 visits. Both average coital frequency and average condom non-use linearly increased during the 27-month follow-up. At any given follow-up, about 35% reported recent OCP use, and 65% reported DMPA use. HLM analyses showed that condom non-use increased as a function of time (beta = .12; p = .03, Level 1 analysis). Increased condom non-use over time was primarily a function of increased coital frequency (beta = .01; p = .00), although higher levels of relationship quality were associated with increased condom non-use at enrollment (beta = .44; p = .00, Level 2 analysis). The temporal rise in condom non-use significantly increased among DMPA users (beta = .06; p = .00) but not OCP users (Level 3 analysis) (beta = -.04; p = .06). CONCLUSIONS:Developmentally, relationship characteristics and coital frequency appear to have increasing weight in decisions about condom use. Hormonal contraceptive methods are not equivalently associated with the overall temporal decline in condom use. Future research associated with dual contraceptive/condom use should address differential factors associated condom use in combination with different hormonal methods.
    背景与目标:
  • 【正常年轻和老年妇女肠道维生素d受体,钙吸收和血清1,25二羟基维生素d之间的关系。】 复制标题 收藏 收藏
    DOI:10.1359/jbmr.1997.12.6.922 复制DOI
    作者列表:Kinyamu HK,Gallagher JC,Prahl JM,DeLuca HF,Petranick KM,Lanspa SJ
    BACKGROUND & AIMS: The exact mechanism for the decrease in intestinal calcium absorption with age is not yet understood. A decrease with age in serum 1,25-dihydroxyvitamin D (1,25(OH)2D) or a decrease in the intestinal vitamin D receptor (VDR) protein concentration are possible causes. The objective of this study was to examine the effect of age on these factors. Fifty-nine young women age 25-35 years were compared with 41 elderly women age 65-83 years who underwent measurements of VDR, calcium absorption using a 20 mg and 100 mg calcium carrier, and calciotropic hormones. Calcium absorption by both tests was lower in the elderly women compared with the young women (p < 0.05). Serum 1,25(OH)2D and duodenal VDR protein concentration were not significantly different between the two age groups. Serum 1,25(OH)2D correlated with the 20 mg calcium absorption test in both young (r = 0.35, p < 0.007) and elderly women (r = 0.58, p < 0.0001) and with the 100 mg calcium absorption in the elderly (r = 0.32; p < 0.05). VDR did not correlate with calcium absorption in young women or elderly women, nor did VDR correlate with serum 1,25(OH)2D and serum 25-hydroxyvitamin D. In summary, the decrease in calcium absorption cannot be explained by a decrease in intestinal VDR. The correlation between serum 1,25(OH)2D and both calcium absorption tests only accounts for 12-30% of the variance in the age-related change in the calcium absorption tests. Other factors, not yet understood, are responsible for the decline in calcium absorption with age.

    背景与目标: 随着年龄的增长,肠道钙吸收减少的确切机制尚不清楚。血清1,25-二羟基维生素d (1,25(OH)2D) 随着年龄的增长而降低或肠道维生素d受体 (VDR) 蛋白浓度降低是可能的原因。这项研究的目的是检查年龄对这些因素的影响。将59名年龄在25-35岁之间的年轻女性与41名年龄在65-83岁之间的老年女性进行了比较,这些女性接受了VDR,使用20 mg和100 mg钙载体的钙吸收以及钙促激素的测量。与年轻女性相比,老年女性两种测试对钙的吸收均较低 (p <0.05)。血清1,25(OH)2D和十二指肠VDR蛋白浓度在两个年龄组之间没有显着差异。血清1,25(OH)2D与青年 (r = 0.35,p <0.007) 和老年妇女 (r = 0.58,p <0.0001) 的20 mg钙吸收试验相关,与老年人的100 mg钙吸收相关 (r = 0.32; p <0.05)。VDR与年轻女性或老年女性的钙吸收无关,也与血清1,25(OH)2D和血清25-羟基维生素d无关。总而言之,钙吸收的减少不能用肠道VDR的减少来解释。血清1,25(OH)2D与两种钙吸收测试之间的相关性仅占钙吸收测试中年龄相关变化的12-30%。其他尚未了解的因素是钙吸收随年龄下降的原因。
  • 【I型糖尿病易感性候选基因的分析: 2q31-35染色体上基因的病例对照和家庭关联研究。】 复制标题 收藏 收藏
    DOI:10.2337/diab.46.6.1069 复制DOI
    作者列表:Owerbach D,Naya FJ,Tsai MJ,Allander SV,Powell DR,Gabbay KH
    BACKGROUND & AIMS: Recent genome searches suggest a putative linkage of many loci to susceptibility to type I diabetes. The chromosome 2q31-35 region is reported to be linked to susceptibility to type I diabetes and is thought to contain several diabetes susceptibility loci. These candidate genes include the HOXD gene cluster, BETA2, CTLA4, CD28, IGFBP2, and IGFBP5. Association studies in populations and families are required to confirm and/or identify the actual susceptibility loci. We hereby report several previously unknown DNA polymorphisms for HOXD8, BETA2, and IGFBP5, which we have used along with previously known polymorphisms of HOXD8 and CTLA4 to test whether these candidate loci are the susceptibility genes on chromosome 2q31-35. Using a case-control design with a subsequent family-association approach to confirm associations, we find no evidence that these candidate genes are associated with susceptibility to type I diabetes.

    背景与目标: 最近的基因组搜索表明,许多基因座与I型糖尿病易感性之间存在推定的联系。据报道,染色体2q31-35区域与I型糖尿病的易感性有关,并被认为包含多个糖尿病易感性位点。这些候选基因包括HOXD基因簇,BETA2,CTLA4,CD28,IGFBP2和igfbp5。需要在人群和家庭中进行关联研究,以确认和/或确定实际的易感性位点。我们在此报告了HOXD8,BETA2和IGFBP5的几个先前未知的DNA多态性,我们将其与先前已知的HOXD8和CTLA4的多态性一起使用,以测试这些候选基因座是否是染色体2q31-35上的易感基因。使用病例对照设计和随后的家庭关联方法来确认关联,我们没有发现证据表明这些候选基因与I型糖尿病的易感性有关。
  • 【神经性厌食症的全基因组关联研究表明,与瘦素信号失调有关的风险位点。】 复制标题 收藏 收藏
    DOI:10.1038/s41598-017-01674-8 复制DOI
    作者列表:
    BACKGROUND & AIMS: :We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.
    背景与目标: : 我们使用严格定义的表型对神经性厌食症 (AN) 进行了全基因组关联研究 (gwa)。表型变异性的分析导致鉴定出一种特定的遗传危险因素,该因素具有全基因组意义 (EBF1中的rs929626 (早期b细胞因子1); P   =   2.04  ×   10-7; Or   =   0.7; 95% 置信区间 (CI)  =   0.61-0.8) 与独立复制 (p   =   0.04),提示一个变异介导的瘦素信号失调可能在AN中起作用。具有变体的LD中的多个snp支持名义上的关联。这表明,尽管AN的临床和病因学异质性已得到普遍认可,但对病例的进一步仔细分类可能会提供更精确的基因组信号。在这项研究中,通过改进AN的表型谱,我们提出了名义上与AN相关的可复制gwa信号,突出了潜在的重要候选基因座,以供进一步研究。
  • 【在成人ADHD患者中,7个候选基因的遗传变异与对哌醋甲酯治疗的反应之间没有显着关联。】 复制标题 收藏 收藏
    DOI:10.1097/JCP.0b013e318270e727 复制DOI
    作者列表:Contini V,Victor MM,Bertuzzi GP,Salgado CA,Picon FA,Grevet EH,Rohde LA,Belmonte-de-Abreu P,Bau CH
    BACKGROUND & AIMS: :Results from pharmacogenetic investigations of methylphenidate (MPH) response in patients with ADHD are still inconsistent, especially among adults. This study investigates the role of genetic variants (SLC6A4, HTR1B, TPH2, DBH, DRD4, COMT, and SNAP25) in the response to MPH in a sample of 164 adults. Genes were chosen owing to previous evidence for an influence in ADHD susceptibility. No significant differences in allele or genotype frequencies between MPH responders and nonresponders were detected. In conclusion, our findings do not support an effect of these genes in the pharmacogenetics of MPH among adults with ADHD.
    背景与目标: : 多动症患者中哌醋甲酯 (MPH) 反应的药物遗传学研究结果仍然不一致,尤其是在成年人中。这项研究调查了164名成年人样本中遗传变异 (SLC6A4,HTR1B,TPH2,DBH,DRD4,COMT和SNAP25) 对MPH反应的作用。由于先前的证据对ADHD易感性有影响,因此选择了基因。在MPH应答者和非应答者之间未检测到等位基因或基因型频率的显着差异。总之,我们的发现不支持这些基因在ADHD成人中MPH的药物遗传学中的作用。
  • 【脊髓损伤个体生活方式与冠心病危险因素的纵向关联.】 复制标题 收藏 收藏
    DOI:10.1038/sc.2012.153 复制DOI
    作者列表:de Groot S,Post MW,Snoek GJ,Schuitemaker M,van der Woude LH
    BACKGROUND & AIMS: OBJECTIVE:To investigate: (1) the course of coronary heart disease risk factors (lipid profiles and body mass index (BMI)) in the first five years after discharge from inpatient spinal cord injury (SCI) rehabilitation and (2) the association between lifestyle (physical activity, self-care related to fitness, smoking, alcohol, body mass and low-fat diet) and coronary heart disease risk factors during that period. DESIGN:Prospective cohort study. PARTICIPANTS/METHODS:Individuals with SCI (N=130). Total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglycerides (TG) and BMI were determined at discharge from inpatient rehabilitation and 1 and 5 years after discharge. Using multilevel regression models, the effects of lifestyle (drinking alcohol, smoking, active lifestyle and self-care) on the lipid profiles and BMI were determined. RESULTS:After correction for lesion and personal characteristics, no changes in lipid profiles in the five years after discharge were seen, whereas the BMI increased significantly with 1.8 kg m(-2). A high percentage was at risk of cardiovascular disease due to high BMI (63-75%) or HDL (66-95%). The individuals who indicated to maintain their fitness level as good as possible and the individuals with a low BMI showed better lipid profiles. Individuals with a more active lifestyle showed higher HDL levels. Individuals who avoid smoking showed a 1.5 kg m(-2) higher BMI. CONCLUSION:Lipid profiles seem to stabilize in the years after discharge from inpatient SCI rehabilitation, whereas the BMI increased. Lifestyle factors associated with a favorable lipid profile and BMI could be identified.
    背景与目标:
  • 【一项全基因组关联研究将APOE基因座与非病理性认知衰老有关。】 复制标题 收藏 收藏
    DOI:10.1038/mp.2012.159 复制DOI
    作者列表:
    BACKGROUND & AIMS: :Cognitive decline is a feared aspect of growing old. It is a major contributor to lower quality of life and loss of independence in old age. We investigated the genetic contribution to individual differences in nonpathological cognitive ageing in five cohorts of older adults. We undertook a genome-wide association analysis using 549 692 single-nucleotide polymorphisms (SNPs) in 3511 unrelated adults in the Cognitive Ageing Genetics in England and Scotland (CAGES) project. These individuals have detailed longitudinal cognitive data from which phenotypes measuring each individual's cognitive changes were constructed. One SNP--rs2075650, located in TOMM40 (translocase of the outer mitochondrial membrane 40 homolog)--had a genome-wide significant association with cognitive ageing (P=2.5 × 10(-8)). This result was replicated in a meta-analysis of three independent Swedish cohorts (P=2.41 × 10(-6)). An Apolipoprotein E (APOE) haplotype (adjacent to TOMM40), previously associated with cognitive ageing, had a significant effect on cognitive ageing in the CAGES sample (P=2.18 × 10(-8); females, P=1.66 × 10(-11); males, P=0.01). Fine SNP mapping of the TOMM40/APOE region identified both APOE (rs429358; P=3.66 × 10(-11)) and TOMM40 (rs11556505; P=2.45 × 10(-8)) as loci that were associated with cognitive ageing. Imputation and conditional analyses in the discovery and replication cohorts strongly suggest that this effect is due to APOE (rs429358). Functional genomic analysis indicated that SNPs in the TOMM40/APOE region have a functional, regulatory non-protein-coding effect. The APOE region is significantly associated with nonpathological cognitive ageing. The identity and mechanism of one or multiple causal variants remain unclear.
    背景与目标: : 认知能力下降是变老的一个令人恐惧的方面。这是导致老年生活质量下降和失去独立性的主要原因。我们调查了五个老年人群对非病理性认知衰老个体差异的遗传贡献。在英格兰和苏格兰的认知老化遗传学 (CAGES) 项目中,我们使用549   692单核苷酸多态性 (snp) 对3511无关的成年人进行了全基因组关联分析。这些个体具有详细的纵向认知数据,从中构建了用于测量每个人的认知变化的表型。位于tom40 (线粒体外膜40同源物的转位酶) 中的一个SNP-rs2075650与认知老化具有全基因组显着关联 (P = 2.5 × 10(-8))。该结果在三个独立的瑞典队列的荟萃分析中被复制 (P = 2.41 × 10(-6))。先前与认知衰老相关的载脂蛋白E (APOE) 单倍型 (与tom40相邻) 对笼子样本中的认知衰老具有显着影响 (P = 2.18 × 10(-8); 女性,P = 1.66 × 10(-11); 男性,P = 0.01)。Tom40/APOE区域的精细SNP图谱将APOE (rs429358; P = 3.66 × 10(-11)) 和tom40 (rs11556505; P = 2.45 × 10(-8)) 识别为与认知衰老相关的基因座。发现和复制队列中的插补和条件分析强烈表明,这种效应是由于APOE引起的 (rs429358)。功能基因组分析表明,tom40/APOE区域的snp具有功能性,调节的非蛋白质编码作用。APOE区域与非病理性认知老化显着相关。一种或多种因果变异的身份和机制仍不清楚。
  • 【产前吸烟与出生体重下降以及新生儿重症监护之间的性别差异。】 复制标题 收藏 收藏
    DOI:10.1080/08964289.2012.703977 复制DOI
    作者列表:Tayie FA,Powell C
    BACKGROUND & AIMS: :Gender-specific associations between prenatal smoking and birthweight, and neonate intensive health care were studied. Cross-sectional data from 11,583 newborns in the continuous National Health and Nutrition Examination Survey (NHANES) 2003-2008 early childhood data sets were used. Change in infant birthweight and likelihood of receiving neonatal intensive care by prenatal smoking exposure were assessed. Multivariable regression models were used to assess the influence of prenatal smoking on birthweight and likelihood of receiving intensive neonatal health care. Compared with infants from nonsmoking mothers, prenatal smoking associated with significant decrease in infant birthweight, -203.0 g ± 32.5, P < 0.001. The change in birthweight differed between infant boys, -220.2 g ± 44.5, and girls, -184.1 g ± 38.8. Newborns exposed to prenatal smoking were more likely to have low birthweight, odds ratio 1.46, P < 0.03, and to receive neonatal intensive health care, odds ratio 1.20; P < 0.04. It is imperative that prenatal counseling emphasizes prenatal maternal smoking.
    背景与目标: : 研究了产前吸烟与出生体重之间的性别特异性关联,以及新生儿重症监护。使用了连续国家健康和营养检查调查 (NHANES) 2003-2008幼儿数据集中的11,583个新生儿的横断面数据。评估了婴儿出生体重的变化以及通过产前吸烟暴露接受新生儿重症监护的可能性。多变量回归模型用于评估产前吸烟对出生体重的影响以及接受重症新生儿保健的可能性。与非吸烟母亲的婴儿相比,产前吸烟与婴儿出生体重显着降低有关,-203.0g ± 32.5,P <0.001。婴儿男孩 (-220.2g ± 44.5) 和女孩 (-184.1g ± 38.8) 的出生体重变化不同。暴露于产前吸烟的新生儿更有可能出生体重低,比值比1.46,P <0.03,并接受新生儿重症监护,比值比1.20; P <0.04。产前咨询必须强调产前母亲吸烟。
  • 【外周静脉疾病与动脉内皮功能障碍的关系: 概念验证研究。】 复制标题 收藏 收藏
    DOI:10.1258/phleb.2012.012048 复制DOI
    作者列表:Moro L,Pedone C,Serino FM,Incalzi RA
    BACKGROUND & AIMS: :The objective of the study was to evaluate the association between peripheral venous disease (PVD) and arterial endothelial dysfunction (ED). Arterial and venous diseases have been always considered as two completely different entities, but the recent discovery of a relationship between arterial and venous thrombosis have challenged this assumption. ED, considered to be an early process in the pathophysiology of atherosclerotic disease, could represent a common pathogenetic background. We studied 39 healthy volunteers (median age: 34 years; men: 25.6%). PVD was diagnosed using ultrasound examination, arterial ED using flow-mediated dilation (FMD) and FMD normalized for the peak shear rate (nFMD). Compared with controls, participants with PVD had a lower FMD (15.2 versus 23.4%, P < 0.001) and nFMD (12.7 × 10(-3) versus 19 × 10(-3)/second, P < 0.001). People with the most clinically evident disease had the worst endothelial function. In conclusion, our findings, if confirmed in larger population, might corroborate the idea that venous and arterial disease could have common causes.
    背景与目标: : 该研究的目的是评估外周静脉疾病 (PVD) 与动脉内皮功能障碍 (ED) 之间的关系。动脉和静脉疾病一直被认为是两个完全不同的实体,但是最近发现动脉和静脉血栓形成之间的关系对这一假设提出了挑战。ED被认为是动脉粥样硬化疾病病理生理的早期过程,可能代表了共同的发病背景。我们研究了39名健康志愿者 (中位年龄: 34岁; 男性: 25.6%)。使用超声检查诊断PVD,使用血流介导的扩张 (FMD) 进行动脉ED,并针对峰值剪切速率 (nFMD) 标准化FMD。与对照组相比,PVD参与者的FMD (15.2 vs 23.4%,P <0.001) 和nFMD (12.7 × 10(-3) vs 19 × 10(-3)/秒,P <0.001) 较低。临床上最明显的疾病患者的内皮功能最差。总之,如果在更多人群中得到证实,我们的发现可能证实了静脉和动脉疾病可能具有共同原因的观点。
  • 【精神分裂症患者的错配负性与皮质厚度之间是否存在关联?】 复制标题 收藏 收藏
    DOI:10.1177/1550059417714705 复制DOI
    作者列表:Seol JJ,Kim M,Lee KH,Hur JW,Cho KIK,Lee TY,Chung CK,Kwon JS
    BACKGROUND & AIMS: INTRODUCTION:Mismatch negativity (MMN) is thought to reflect preattentive, automatic auditory processing. Reduced MMN amplitude is among the most robust findings in schizophrenia research. MMN generators have been shown to be located in the temporal and frontal cortices, which are key areas in the pathophysiology of schizophrenia. This study investigated whether frontotemporal cortical thickness was associated with reduced MMN current source density (CSD) strength in patients with schizophrenia. METHODS:Sixteen schizophrenia patients and 18 healthy controls (HCs) were examined using magnetoencephalography while they performed a passive auditory oddball paradigm. All participants underwent a T1 structural magnetic resonance imaging scan in a separate session. We evaluated MMN CSD and cortical thickness, and their associations, in the superior and transverse temporal gyri, as well as in the inferior and middle frontal gyri. RESULTS:Patients exhibited significantly reduced CSD strength in all temporal and frontal areas of interest relative to HCs. There was a positive correlation between CSD strength and cortical thickness in both temporal and frontal areas in HCs. However, schizophrenia patients showed negative correlations between CSD strength and cortical thickness in the bilateral inferior frontal gyri. Additionally, we found positive correlations between frontal cortical thickness and negative and total scores on the Positive and Negative Syndrome Scale (PANSS). CONCLUSIONS:Our findings provide evidence for deficient temporal and frontal MMN generators and a disruption of normal structure-function relationship in patients with schizophrenia.
    背景与目标:
  • 【北美松茸: 名称明确,描述了一个新物种。】 复制标题 收藏 收藏
    DOI:10.1080/00275514.2017.1326780 复制DOI
    作者列表:Trudell SA,Xu J,Saar I,Justo A,Cifuentes J
    BACKGROUND & AIMS: :Tricholoma matsutake, known widely as "matsutake," has great commercial and cultural significance in Japan. Because Japanese production is insufficient to meet the high domestic demand, morphologically similar mushrooms, thought by many to belong to T. magnivelare, are imported from western North America. However, molecular data produced since the early 2000s have indicated that more than one species of matsutake occur in North America and this raises the question of correct naming for the different species. To address this question, we assessed the phylogenetic diversity within North American matsutake based on nuc rDNA ITS1-5.8S-ITS2 (internal transcribed spacer [ITS] barcode) sequences, including newly obtained sequences from the type collections for Agaricus ponderosus and Armillaria arenicola, and morphological characters. Our results agree with earlier indications that three matsutake species occur in North America and allow us to clarify the correct application of names-T. magnivelare from the eastern USA and Canada, T. murrillianum from the western USA and Canada, and T. mesoamericanum from Mexico, newly described here. The existence of the three North American species is further supported by the results of evolutionary divergence analysis, geographical distributions, and morphological characters.
    背景与目标: : 松茸,被广泛称为 “松茸”,在日本具有重大的商业和文化意义。由于日本的产量不足以满足国内的高需求,因此从北美西部进口了许多形态相似的蘑菇,这些蘑菇被许多人认为属于T.Magnivelart。然而,自21世纪00年代初以来产生的分子数据表明,北美存在一种以上的松茸,这就提出了为不同物种正确命名的问题。为了解决这个问题,我们根据nuc rDNA ITS1-5.8S-ITS2 (内部转录间隔区 [ITS] 条形码) 序列评估了北美松茸内部的系统发育多样性,包括从黄松茸和arenicola的类型集合中新获得的序列,以及形态特征。我们的结果与先前的迹象一致,即北美有三种松茸物种,这使我们能够阐明名称的正确应用-美国东部和加拿大的T.Magnivelale,美国西部和加拿大的T.Murrilianum以及墨西哥的T. mesoamericanum,在此处新描述。进化差异分析,地理分布和形态特征的结果进一步支持了这三个北美物种的存在。

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