BACKGROUND & AIMS: :Growth hormone (GH) is a major regulator of growth, somatic development and body composition. Sex steroids can act centrally by regulating GH secretion and peripherally modulating GH responsiveness. This review addresses data of potential clinical relevance on how sex steroids modulate GH secretion and action, aiming to increase the understanding of sex steroid/GH interactions and leading to improved management of patients. Sex steroids regulate GH secretion directly as well as indirectly through IGF-I modulation. Testosterone stimulates GH secretion centrally, an effect dependent on prior aromatization to oestrogen. Oestrogen stimulates GH secretion indirectly by reducing IGF-I feedback inhibition. Whether oestrogen stimulates GH secretion centrally in females is unresolved. Gonadal steroids modify the metabolic effects of GH. Testosterone amplifies GH stimulation of IGF-I, sodium retention, substrate metabolism and protein anabolism while exhibiting similar but independent actions of its own. Oestrogen attenuates GH action by inhibiting GH-regulated endocrine function of the liver. This is a concentration-dependent phenomenon that arises invariably from oral administration of therapeutic doses of oestrogen, an effect that can be avoided by using a parenteral route. This strong modulatory effect of gonadal steroids on GH responsiveness provides insights into the biological basis of sexual dimorphism in growth, development and body composition and practical information for the clinical endocrinologist. It calls for an appraisal of the diagnostic criteria for GH deficiency of GH stimulation tests, which currently are based on arbitrary cut-offs that do not take into account the shifting baseline from the changing gonadal steroid milieu. In the management of GH deficiency in the hypopituitary female, oestrogen should be administered by a nonoral route. In hypopituitary men, androgens should be replaced concurrently to maximize the benefits of GH. In the general population, the metabolic consequences of long-term treatment of women with oral oestrogen compounds, including selective oestrogen receptor modulators, are largely unknown and warrant study.

背景与目标： ：生长激素（GH）是生长，体细胞发育和身体成分的主要调节剂。性类固醇可以通过调节GH分泌并在外围调节GH反应性来发挥中心作用。这篇综述探讨了有关性类固醇如何调节GH分泌和作用的潜在临床相关性数据，旨在增进对性类固醇/ GH相互作用的了解并改善患者的管理。性类固醇直接或通过IGF-I调节间接调节GH的分泌。睾丸激素可集中刺激GH分泌，其作用取决于先前对雌激素的芳香化作用。雌激素通过减少IGF-1反馈抑制作用间接刺激GH分泌。雌激素是否能集中刺激女性的GH分泌尚无定论。性腺类固醇会改变GH的代谢作用。睾丸激素可放大IGF-1的GH刺激，钠保留，底物代谢和蛋白质合成代谢，同时表现出类似但独立的作用。雌激素通过抑制GH调节的肝脏内分泌功能来减弱GH的作用。这是一种浓度依赖性现象，总是由口服治疗剂量的雌激素引起，这种现象可以通过肠胃外途径避免。性腺类固醇对GH反应性的这种强大调节作用为临床内分泌学家提供了有关生长，发育和身体组成方面性二态性的生物学基础的见解，并为临床内分泌学家提供了实用信息。它要求评估GH刺激试验中GH缺乏的诊断标准，该诊断标准目前基于任意临界值，该临界值未考虑来自不断变化的性腺类固醇环境的基线变化。在垂体下垂体GH缺乏症的治疗中，应通过非口服途径给予雌激素。在垂体下垂的男性中，应同时更换雄激素以最大程度地增加GH的益处。在一般人群中，口服雌激素化合物（包括选择性雌激素受体调节剂）对妇女进行长期治疗的代谢后果在很大程度上尚不清楚，值得研究。

BACKGROUND & AIMS: :The cytogenetic characteristics of Eigenmannia aff. trilineata were analyzed by basic and molecular cytogenetics, applying fluorescent in situ hybridization, with 18S and 5S rDNA and U2 snRNA probes. The species revealed a kind of polymorphism associated to ZZ/Z0 type sex chromosomes, with 2n = 32 (8m+2sm+22a, NF = 42) in all males under analysis, whereas females evidenced 2n = 31 (8m+1sm+22a, NF = 40). C-banding showed constitutive heterochromatin restricted to the pericentromeric region of all chromosomes and single-nucleolus organized regions on pair 11. A site for rDNA 5S was synthetic with a cluster of rDNA 18S near the centromere on the long arm of only one homologue of pair 11. Other clusters for 5S rDNA were sited on pairs 7, 10, 12, 13, and 16. Further, 5S rDNA was co-located with U2 cluster in the pericentromeric region of pair 12. Joint analysis of DNA barcoding from cytochrome c oxidase subunit I (COI) sequences, generated from the karyotyped samples of E. aff. trilineata, and sequences of other Gymnotiforms recognized E. aff. trilineata as an Operational Taxonomic Unit. Results foreground the hypothesis that cytotypes are independent evolution units as cryptic species with a low morphological differentiation level, although with high genetic/karyotype differentiation rates.

背景与目标： ：本征曼氏体的细胞遗传学特征。用基本的和分子的细胞遗传学方法对三线虫进行了分析，并使用荧光原位杂交技术与18S和5S rDNA和U2 snRNA探针进行了杂交。该物种显示出一种与ZZ / Z0型性染色体相关的多态性，在分析中，所有雄性均为2n = 32（8m 2sm 22a，NF = 42），而雌性则显示为2n = 31（8m 1sm 22a，NF = 40）。 。 C谱带显示组成性异染色质仅限于对11上所有染色体的着丝粒区域和单核仁组织区域。一个rDNA 5S的位点是合成的，在着丝点附近长着丝粒的rDNA 18S簇只有一对同源。 11. 5S rDNA的其他簇位于对7、10、12、13和16。此外，5S rDNA与U2簇共位于对12的着丝粒区域中。联合分析来自细胞色素c氧化酶的DNA条形码亚型I（COI）序列，从aff。aff。的核型样​​本中产生。 trilineata，和其他裸Gym科动物的序列公认的大肠杆菌。 trilineata作为业务分类单位。结果提出了这样的假说，即细胞类型是作为隐性物种的独立进化单位，具有较低的形态分化水平，尽管具有较高的遗传/核型分化率。

BACKGROUND & AIMS: :Sexual dimorphisms are prevalent in development, physiology and diseases in humans. Currently, the contributions of the genes on the male-specific region of the Y chromosome (MSY) in these processes are uncertain. Using a transgene activation system, the human sex-determining gene hSRY is activated in the single-cell embryos of the mouse. Pups with hSRY activated (hSRYON) are born of similar sizes as those of non-activated controls. However, they retard significantly in postnatal growth and development and all die of multi-organ failure before two weeks of age. Pathological and molecular analyses indicate that hSRYON pups lack innate suckling activities, and develop fatty liver disease, arrested alveologenesis in the lung, impaired neurogenesis in the brain and occasional myocardial fibrosis and minimized thymus development. Transcriptome analysis shows that, in addition to those unique to the respective organs, various cell growth and survival pathways and functions are differentially affected in the transgenic mice. These observations suggest that ectopic activation of a Y-located SRY gene could exert male-specific effects in development and physiology of multiple organs, thereby contributing to sexual dimorphisms in normal biological functions and disease processes in affected individuals.

背景与目标： 性双态性在人类的发育，生理和疾病中普遍存在。目前，这些过程中Y染色体（MSY）的男性特定区域上的基因贡献尚不确定。使用转基因激活系统，人类性别决定基因hSRY在小鼠的单细胞胚胎中被激活。激活了hSRY的幼犬（hSRYON）的大小与未激活的对照相似。然而，它们在出生后的生长和发育中显着地延迟，并且在两周龄之前都死于多器官衰竭。病理和分子分析表明，hSRYON幼崽缺乏先天的哺乳活动，并发展为脂肪肝疾病，阻止了肺中的肺泡形成，大脑中的神经发生受损以及偶发的心肌纤维化，并使胸腺的发育减至最小。转录组分析表明，除了各个器官特有的那些外，转基因小鼠中各种细胞的生长，存活途径和功能也受到不同的影响。这些观察结果表明，异位激活Y-定位的SRY基因可以在多个器官的发育和生理中发挥雄性特异性作用，从而在受影响个体的正常生物学功能和疾病过程中促成性二态性。

BACKGROUND & AIMS: BACKGROUND:There have been a number of studies of treatment for men with intellectual disabilities and sexually abusive behaviour but few follow-up studies. Our aim was to follow up men with intellectual disabilities who had attended group cognitive behavioural treatment (CBT) for sexually abusive behaviour. METHOD:Thirty-four men (from seven treatment sites) were followed up. All had attended SOTSEC-ID groups. The mean length of follow-up, since the end of the treatment group, was 44 months (SD 28.7, range 15-106 months). RESULTS:The statistically significant improvements in sexual knowledge, empathy and cognitive distortions that occurred during treatment were maintained at follow-up. In all, 11 of the 34 (32%) men showed further sexually abusive behaviour, but only two of these men received convictions. Analyses of the variables associated with further sexually abusive behaviour indicated that a diagnosis of autism was associated with a higher likelihood of further sexually abusive behaviour. CONCLUSIONS:This study provides some evidence of the longer-term effectiveness of group CBT for men with intellectual disabilities and sexually abusive behaviour.

背景与目标： 背景：已有许多针对智障和性虐待行为的男性的治疗研究，但随访研究很少。我们的目的是跟进曾参加过针对性虐待行为的集体认知行为治疗（CBT）的智障男性。
方法：对34名男性（来自7个治疗部位）进行了随访。所有人都参加了SOTSEC-ID组。自治疗组结束以来，平均随访时间为44个月（SD 28.7，范围15-106个月）。
结果：随访期间，在治疗过程中发生的性知识，同理心和认知失真方面的统计学显着改善得以维持。在这34名男性中，有11名（32％）表现出进一步的性虐待行为，但其中只有2名被定罪。对与进一步的性虐待行为有关的变量的分析表明，自闭症的诊断与更高的进一步性虐待行为的可能性有关。
结论：这项研究提供了一些证据，表明集体CBT对智力残疾和性虐待行为的长期效果。

BACKGROUND & AIMS: :Male excess mortality is widespread among mammals and frequently interpreted as a cost of sexually selected traits that enhance male reproductive success. Sex differences in the propensity to engage in risky behaviours are often invoked to explain the sex gap in survival. Here, we aim to isolate and quantify the survival consequences of two potentially risky male behavioural strategies in a small sexually monomorphic primate, the grey mouse lemur Microcebus murinus: (i) most females hibernate during a large part of the austral winter, whereas most males remain active and (ii) during the brief annual mating season males roam widely in search of receptive females. Using a 10-year capture-mark-recapture dataset from a population of M. murinus in Kirindy Forest, western Madagascar, we statistically modelled sex-specific seasonal survival probabilities. Surprisingly, we did not find any evidence for direct survival benefits of hibernation-winter survival did not differ between males and females. By contrast, during the breeding season males survived less well than females (sex gap: 16%). Consistent with the 'risky male behaviour' hypothesis, the period for lowered male survival was restricted to the short mating season. Thus, sex differences in survival in a promiscuous mammal can be substantial even in the absence of sexual dimorphism.

背景与目标： ：男性过高的死亡率在哺乳动物中广泛存在，通常被解释为增强男性生殖成功的性选择性状的代价。经常会采用性别差异来冒险行为，以解释生存中的性别差距。在这里，我们的目的是隔离和量化在一个小的有性单态灵长类动物（灰色老鼠狐猴Microcebus murinus）中两种潜在危险的男性行为策略的生存后果：保持活跃；（ii）在短暂的年度交配季节，雄性广泛漫游以寻找雌性。我们使用了马达加斯加西部Kirindy Forest的M. murinus种群的10年捕获标记捕获数据集，对统计学上的性别特异性季节性生存概率进行了建模。出人意料的是，我们没有发现任何证据表明冬眠的直接生存益处，男性和女性之间没有差异。相比之下，在繁殖季节，雄性的存活率不及雌性（性别差距：16％）。与“危险的男性行为”假说相一致，降低男性生存期的时间仅限于短交配季节。因此，即使在没有性二态性的情况下，在混杂哺乳动物中，生存中的性别差异也可能很大。

BACKGROUND & AIMS: :Recent field studies on the reproductive ecology of western diamond-backed rattlesnakes (Crotalus atrox) from populations in southern Arizona showed significant differences in the concentration of plasma sex steroids (testosterone, T; 5alpha-dihydrotestosterone, DHT; and 17beta-estradiol, E2) throughout the active season (March-October), and peak levels were coincident with the two mating periods (late summer and early spring). There is, however, no information on levels of sex steroids during winter. Similar to most snakes, hibernating individuals of C. atrox are typically inaccessible, but in southern Arizona, where environmental conditions are typically mild during winter, adult males frequently bask at or near the entrances of communal dens. Basking activity, therefore, offers a unique logistical opportunity to assess the complete annual profile of plasma sex steroid levels in males of a temperate reptile in nature. From November to February, we measured levels of plasma T, DHT, and E2 in adult male C. atrox that were located basking at communal dens. Additionally, cloacal, core body, and ambient air temperatures were obtained to investigate potential relationships between body temperatures and levels of sex steroids. Mean levels of T, DHT, and E2 were relatively high, and the concentration hierarchy was T>DHT>E2. Mean levels of T, DHT, and E2 showed no significant variation across the four months of sampling; however, E2 levels decreased progressively. In the annul cycle, sex steroid levels during winter were not basal when compared to values obtained during the active season. Mean cloacal temperatures of basking males were significantly higher than core body temperatures of non-basking males (inside dens) from November-December, and in February, which suggests that one function of winter basking is to elevate body temperatures. Steroid levels, nonetheless, were not significantly correlated with cloacal temperatures. We suggest that future field studies of male C. atrox should: (a) investigate sex steroid levels in non-basking individuals and (b) test whether elevated levels of sex steroids during winter facilitate the large increases that occur in early spring, which are coincident with the second mating season. Our findings on the reproductive biology of C. atrox and other viperids are discussed in the context of the associated-dissociated model of reproduction.

背景与目标： ：来自亚利桑那州南部人群的西方菱形响尾蛇（Crotalus atrox）生殖生态学的最新田野研究表明，血浆性类固醇（睾丸激素T，5α-二氢睾丸激素DHT和17beta-雌二醇E2）的浓度存在显着差异）在整个活动季节（3月至10月），高峰水平与两个交配期（夏末和初春）重合。但是，没有关于冬季性类固醇水平的信息。与大多数蛇类似，冬眠的C. atrox个体通常难以接近，但在亚利桑那州南部，冬季的环境条件通常较为温和，成年雄性经常在公共巢穴的入口或附近晒太阳。因此，晒日光浴活动提供了独特的后勤机会，可以评估自然界温带爬行动物男性血浆类固醇水平的完整年度概况。从11月到2月，我们测量了位于公共巢穴的成年雄性C. atrox血浆T，DHT和E2的水平。此外，还获得了泄殖腔，核心身体和周围的空气温度，以研究体温与性类固醇水平之间的潜在关系。 T，DHT和E2的平均水平较高，浓度等级为T> DHT> E2。在四个月的采样中，T，DHT和E2的平均水平没有显着变化。然而，E2水平逐渐降低。与活动季节获得的值相比，在无生命周期中，冬季的性类固醇水平不是基础。从11月到12月以及2月，鸟雄性的平均泄殖腔温度显着高于非-鸟雄性的核心体温（在巢穴内），这表明冬季取暖的一种功能是升高体温。尽管如此，类固醇水平与泄殖腔温度没有显着相关。我们建议，将来对雄性梭菌的田间研究应：（a）研究非晒太阳个体中的性类固醇水平，以及（b）测试冬天期间性类固醇水平的升高是否促进了早春时发生的大量增加。与第二个交配季节相吻合。我们在关联解离的繁殖模型的背景下讨论了我们对C. atrox和其他类病毒的生殖生物学的发现。

BACKGROUND & AIMS: :Spinacia oleracea L. (spinach) is a dioecious species with both male and female plants having 2n = 2x = 12 chromosomes, consisting of two large metacentrics, two long subtelocentrics, two short subtelocentrics, two acrocentrics, and four submetacentrics. The location of 45S rDNA was investigated on metaphase chromosomes using fluorescence in situ hybridization (FISH). The numbers of 45S rDNA foci in diploid sets of chromosomes from females was six and from males was five. All the fluorescent foci lay in secondary constrictions and the satellites. Our results indicate that an XY-type sex chromosome system could be present in spinach where the Y chromosome lacks a 45S RNA focus.

背景与目标： ：菠菜（Spinacia oleracea L.）（菠菜）是雌雄异体的物种，其雄性和雌性植物均具有2n = 2x = 12条染色体，包括两个大的亚中心，两个长的亚中心，两个短的亚中心，两个顶心和四个亚中心。使用荧光原位杂交（FISH）研究了45S rDNA在中期染色体上的位置。来自雌性的二倍体染色体组中的45S rDNA焦点数目为六个，来自雄性的数目为45个。所有的荧光灶都位于次要收缩区和人造卫星中。我们的结果表明，XY染色体缺乏45S RNA焦点的菠菜中可能存在XY型性染色体系统。

BACKGROUND & AIMS: INTRODUCTION:Basal leptin level has been demonstrated to correlate positively with many indices of obesity, as well as insulin resistance. However, to date, little is known about regulation of leptin in obese children with incipient glucose metabolic disorders. OBJECTIVE:The aim of this study was to define the precise influence of the glucose tolerance status on plasma leptin in obese boys and girls separately. MATERIAL AND METHODS:70 obese children with impaired glucose tolerance (IGT) and well-matched 70 normal glucose-tolerant (NGT) subjects were examined. Fasting and 2-h post glucose load plasma glucose and insulin levels as well as fasting leptin levels were determined, apart from anthropometric measurements. RESULTS:Leptin levels were significantly lower in girls with IGT compared to NGT girl (17.7+/-6.5 microg/L vs. 23.1+/-7.7 microg/L; p<.001). No such difference was observed in boys. In a multiple regression analysis adjusting for age and adiposity, in the female group plasma glucose and insulin levels 2-h after glucose load were the best predictors of fasting plasma leptin (r=-0.49, p<.005 and r=0.34, p<.05; respectively). In boys, plasma insulin level 2-h after glucose load was the independent determinant of leptin (r=0.36, p<.05). CONCLUSION:The differences between regulation of leptin synthesis in girls and boys with simple obesity were found. The stimulatory effect of insulin on leptin synthesis was greater in girls with normoglycemia than in girls with impaired glucose tolerance.

背景与目标： 简介：基础瘦素水平已被证明与许多肥胖指数以及胰岛素抵抗呈正相关。然而，迄今为止，关于肥胖儿童早期糖代谢紊乱中瘦素的调控知之甚少。
目的：本研究的目的是明确定义葡萄糖耐量状态对肥胖男孩和女孩血浆瘦素的精确影响。
材料与方法：检查了70名糖耐量受损（IGT）肥胖儿童和70名正常糖耐量（NGT）受试者的匹配性。除了人体测量之外，还测定了空腹和葡萄糖负荷后2小时的血浆葡萄糖，胰岛素水平以及空腹瘦素水平。
结果：IGT女孩的瘦素水平明显低于NGT女孩（17.7 /-6.5 microg / L vs. 23.1 /-7.7 microg / L； p <.001）。在男孩中没有观察到这种差异。在校正年龄和肥胖的多元回归分析中，在女性组中，葡萄糖负荷后2小时的血浆葡萄糖和胰岛素水平是空腹血浆瘦素的最佳预测指标（r = -0.49，p <.005，r = 0.34，p <.05;分别）。在男孩中，葡萄糖负荷后2小时的血浆胰岛素水平是瘦素的独立决定因素（r = 0.36，p <.05）。
结论：发现单纯性肥胖的男孩和女孩的瘦素合成调控存在差异。血糖正常的女孩胰岛素对瘦素合成的刺激作用大于葡萄糖耐量受损的女孩。

BACKGROUND & AIMS: OBJECTIVE:Cross-sectional data suggest that obesity, particularly central obesity, may be associated with decreased production of sex steroid hormones in men. However, longitudinal hormone data on men in relation to obesity status are limited. Previous studies have not consistently demonstrated whether sex steroids are associated specifically to body mass index or to measures of central obesity. Our objective was to examine the relation of obesity (body mass index > 30 kg/m2), and of central obesity (waist circumference > 100 cm or waist to hip ratio > 0.95) to longitudinal change in sex steroid hormones in men. DESIGN:Prospective follow-up of a population-based sample of men in Boston. PATIENTS:Nine hundred forty-two (942) men in the Massachusetts Male Ageing Study with complete anthropometry and hormone data at baseline (1987-1989, ages 40-70) and follow-up (1995-1997). MEASUREMENTS:Free and total testosterone (FT and TT), dehydroepiandrosterone sulphate (DHEAS), and sex hormone-binding globulin (SHBG) were assessed using standardized methods. Health behaviours and medical history were obtained by structured interview. Repeated measures regression was used to describe trends in steroid hormones and SHBG in relation to obesity status, adjusting for age, smoking, alcohol, comorbidities, and physical activity. RESULTS:Obesity was associated with decreased levels of total and free testosterone, and of SHBG at follow-up relative to baseline. For any given baseline concentration of TT, FT or SHBG, follow-up levels were lowest among men who remained obese or who became obese during follow-up. This was true for all three indices of obesity. Central adiposity was associated with lower DHEAS levels at follow-up, while elevated body mass index was not. CONCLUSIONS:Obesity may predict greater decline in testosterone and SHBG levels with age. Central adiposity may be a more important predictor of decline in DHEAS than is body mass index.

背景与目标： 目的：横断面数据表明，肥胖症，特别是中枢性肥胖症，可能与男性性类固醇激素的产生减少有关。但是，有关肥胖状况的男性纵向激素数据有限。先前的研究并未始终证明性类固醇是否与体重指数或中枢性肥胖症的测量指标特别相关。我们的目标是检查肥胖（体重指数> 30 kg / m2）和中性肥胖（腰围> 100 cm或腰臀比> 0.95）与男性性类固醇激素的纵向变化之间的关系。
设计：对波士顿的一项以人群为基础的男性样本进行的前瞻性随访。
患者：马萨诸塞州男性衰老研究中的九十二名（942名）男性在基线（1987-1989，年龄40-70）和随访（1995-1997）时具有完整的人体测量学和激素数据。
测量：使用标准方法评估游离和总睾丸激素（FT和TT），硫酸脱氢表雄酮（DHEAS）和性激素结合球蛋白（SHBG）。通过结构化访谈获得健康行为和病史。重复测量回归用于描述与肥胖状况相关的类固醇激素和SHBG的趋势，并根据年龄，吸烟，饮酒，合并症和体育锻炼进行调整。
结果：相对于基线，肥胖与随访时总睾丸激素和游离睾丸激素水平以及SHBG水平降低有关。对于任何给定的TT，FT或SHBG基线浓度，随访水平在仍然肥胖或在随访过程中变得肥胖的男性中最低。肥胖的所有三个指标都是如此。随访中，中央肥胖与DHEAS水平降低有关，而体重指数升高与肥胖无关。
结论：肥胖可能预示着随着年龄的增长，睾丸激素和SHBG的下降将更大。与体重指数相比，中央肥胖可能是DHEAS下降的更重要的预测指标。

BACKGROUND & AIMS: :Amelogenin has chromosome X (AMELX) and Y (AMELY) homologs that can be differentiated based on the length of polymerase chain reaction (PCR) amplification products. In addition to being useful for gender identification, analysis of amelogenin has utility for monitoring bone marrow engraftment in patients after a sex-mismatched bone marrow transplant, characterizing sex chromosome abnormalities, and for forensic purposes for analyzing mixtures of male and female DNA. Here, we describe two brothers in which PCR analysis demonstrated twofold greater AMELY products compared with AMELX products. Karyotype and X/Y fluorescence in situ hybridization analysis demonstrated a single copy of the X and Y chromosomes without any identifiable abnormalities. Oligonucleotide comparative genomic hybridization array analysis demonstrated a duplication of a portion of chromosome Yp that encompassed a region of at least 2.6 Mb but not greater than 4.0 Mb. The amplified region contains the genes AMELY, transducin (beta)-like 1 protein Y (TBL1Y), and protein kinase Y (PRKY). To our knowledge, duplication of this region has not previously been reported. The family history is unremarkable, and the brothers are without ap-parent dysmorphic features. Although this and other genetic variants involving AMELY are uncommon, one should use caution when using amelogenin for sex chromosome analysis and bone marrow engraftment analysis.

背景与目标： ：Amelogenin具有X染色体（AMELX）和Y染色体（AMELY）同源物，可以根据聚合酶链反应（PCR）扩增产物的长度进行区分。除可用于性别识别外，牙釉蛋白的分析还可用于监测性别不匹配的骨髓移植后患者的骨髓植入情况，表征性染色体异常，以及用于法医目的分析男性和女性DNA的混合物。在这里，我们描述了两个兄弟，其中PCR分析显示的AMELY产品是AMELX产品的两倍。核型和X / Y荧光原位杂交分析表明X和Y染色体的单个副本没有任何可识别的异常。寡核苷酸比较基因组杂交阵列分析表明，Yp染色体的一部分重复，该部分包含至少2.6 Mb但不大于4.0 Mb的区域。扩增的区域包含基因AMELY，转导蛋白β-样1蛋白Y（TBL1Y）和蛋白激酶Y（PRKY）。据我们所知，该区域的重复以前没有被报道过。家族史很少，兄弟俩没有明显的畸形特征。尽管这种和其他涉及AMELY的遗传变异并不常见，但在使用amelogenin进行性染色体分析和骨髓植入分析时，应谨慎行事。

BACKGROUND & AIMS: STUDY QUESTION:Is there an association between polycystic ovary syndrome (PCOS) and the sex hormone-binding globulin (SHBG) rs1799941, rs6257, rs6259 and rs727428 variants in a large series of Mediterranean women? SUMMARY ANSWER:The rs727428 and rs6259 variants are associated with PCOS in Mediterranean women. WHAT IS KNOWN ALREADY:The level of SHBG, the primary plasma transport protein for sex steroids, which regulates the bioavailability of these hormones to target tissues, is reduced in patients with PCOS. Single-nucleotide polymorphisms in the SHBG gene influence circulating SHBG levels in American patients with PCOS and may predict the development of type 2 diabetes. STUDY DESIGN, SIZE AND DURATION:This was a genetic case-control association study including 1004 premenopausal Mediterranean women. PARTICIPANTS/MATERIALS, SETTING AND METHODS:In an Academic setting, we genotyped a clinical cohort consisting of 281 patients with PCOS and 142 women without any evidence of androgen excess, and a population-based cohort comprised of 581 unselected female blood donors from Spain and Italy. The latter included 31 patients with PCOS and 550 controls, of whom 298 had no evidence of any androgen excess disorder and were considered hyper-normal controls. MAIN RESULTS AND THE ROLE OF CHANCE:Mutant alleles of the rs727428 variant were more frequent in patients with PCOS compared with controls and with hyper-normal controls. This association was independent of obesity. Carrying mutant alleles of rs727428 was found to be associated with a 1.29 odds ratio (OR) for PCOS, whereas carrying mutant alleles of rs6259 associated with a 0.68 OR for PCOS. The rs1799941 and rs6257 variants were not associated with PCOS. None of the SHBG variants influenced serum SHBG concentrations. LIMITATIONS AND REASONS FOR CAUTION:The associations found here were relatively weak and, arising from a case-control study, do not necessarily indicate a causative role of the SHBG variants in the development of PCOS. Also, we studied different patients and controls from different sources, making some of the interpretations difficult. Finally, the rs1799941 variant was not in Hardy-Weinberg equilibrium in the small group of patients with PCOS recruited from the general population, yet this variant was not associated with PCOS. WIDER IMPLICATIONS OF THE FINDINGS:SHBG variants that influenced circulating SHBG levels in American patients with PCOS are also associated with this syndrome in Mediterranean women, pointing to SHBG as a candidate gene for PCOS. STUDY FUNDING/COMPETING INTEREST(S):This study was supported by grants PI080944 and PI110357 from Instituto de Investigación Carlos III, Spanish Ministry of Economy and Competitiveness. CIBERDEM is also an initiative of Instituto de Investigación Carlos III. The Authors have no competing interests to declare.

背景与目标： 研究问题：在一系列地中海妇女中，多囊卵巢综合征（PCOS）与性激素结合球蛋白（SHBG）rs1799941，rs6257，rs6259和rs727428变异之间是否存在关联？
总结：rs727428和rs6259变体与地中海妇女的PCOS相关。
已经知道：PCOS患者的性激素的主要血浆转运蛋白SHBG的水平降低了，它调节这些激素对靶组织的生物利用度。 SHBG基因中的单核苷酸多态性影响美国PCOS患者的循环SHBG水平，并可能预测2型糖尿病的发生。
研究设计，规模和持续时间：这是一项遗传病例对照协会研究，包括1004例绝经前的地中海妇女。
参与者/材料，地点和方法：在学术背景下，我们对临床队列进行了基因分型，该队列由281名PCOS患者和142名无雄激素过多证据的女性组成，以人群为基础的队列由581名来自西班牙和美国的未选择女性献血者组成意大利。后者包括31例PCOS患者和550例对照，其中298例无雄激素过多症的证据，被认为是超正常对照。
主要结果和机会：与对照组和高正常对照组相比，PCOS患者中rs727428变异的突变等位基因更为常见。这种关联与肥胖无关。发现携带rs727428的突变等位基因与PCOS的比值为1.29，而携带rs6259的突变等位基因与PCOS的比值为0.68。 rs1799941和rs6257变体与PCOS不相关。没有SHBG变体影响血清SHBG浓度。
注意事项的局限性和原因：在这里发现的关联性相对较弱，并且是由于病例对照研究而产生的，不一定表明SHBG变体在PCOS的发展中具有致病作用。此外，我们研究了来自不同来源的不同患者和对照，因此难以做出某些解释。最后，在从一般人群中招募的一小部分PCOS患者中，rs1799941变异体未达到Hardy-Weinberg平衡，但该变异体与PCOS无关。
结果的更广泛的含义：影响地中海PCOS美国患者循环SHBG水平的SHBG变体也与地中海妇女中的该综合征相关，指出SHBG是PCOS的候选基因。
研究资金/竞争兴趣：该研究得到了西班牙经济与竞争力部卡洛斯三世研究所PI080944和PI110357的资助。 CIBERDEM也是卡洛斯三世研究所的一项倡议。作者没有竞争利益要声明。

BACKGROUND & AIMS: :The aims of this paper were to find out the status of HIV and syphilis infection and to examine the sexual behaviours between men who have sex with men only (MSM/M) and men who have sex with both men and women (MSM/W), as well as to determine the correlates for HIV and syphilis infection among MSM/M and MSM/W, respectively. Among 1693 MSM who participated in the study, the proportions of MSM/M and MSM/W were 82.1% and 17.9%, respectively. The prevalences of HIV infection were 7.0% in MSM/M and 6.6% in MSM/W and the prevalences of syphilis infection were 11.9% and 13.2%, respectively. Among the MSM/M subset, the correlates both for HIV and syphilis infection included having more sexual partners, and being receptive or both insertive and receptive for anal sex. Among the MSM/W subset, living in Chengdu was associated with HIV infection and using condoms inconsistently during anal sex was associated with syphilis infection. The findings of this survey call for interventions tailored according to the needs of different subsets of MSM.

背景与目标： ：本文旨在探讨艾滋病毒和梅毒感染的状况，并研究仅与男性发生性关系的男性（MSM / M）和男性与女性发生性行为的男性（MSM / W）之间的性行为），以及分别确定MSM / M和MSM / W与HIV和梅毒感染的相关性。在参加该研究的1693名MSM中，MSM / M和MSM / W的比例分别为82.1％和17.9％。 MSM / M中HIV感染的患病率为7.0％，MSM / W中HIV感染的患病率为6.1.9％，梅毒感染的患病率分别为11.9％和13.2％。在MSM / M子集中，与HIV和梅毒感染相关的因素包括有更多的性伴侣，并且对肛交有接受性，或者既有插入性也有接受性。在MSM / W子集中，成都居民与HIV感染有关，而在肛交期间使用避孕套与梅毒感染有关。这项调查的结果要求根据MSM不同子集的需求量身定制干预措施。

BACKGROUND & AIMS: :This study examines the relationship between alcohol use, HIV status, and condom use among female sex workers in Nagaland, India. We analyzed data from a cross-sectional survey undertaken in 2009, using descriptive and multivariate statistics. Out of 417 female sex workers, one-fifth used alcohol daily and one-tenth were HIV-positive. HIV-positive female sex workers were more likely than HIV-negative female sex workers to consume alcohol daily (30.2% vs. 18.0%). HIV-positive daily alcohol users reported lower condom use at last sex with regular clients compared to HIV-positive non-daily alcohol users (46.2% vs. 79.3%), a relationship not evident among HIV-negative female sex workers. There is a need to promote awareness of synergies between alcohol use and HIV, and to screen for problematic alcohol use among female sex workers in order to reduce the spread of HIV.

背景与目标： ：这项研究调查了印度那加兰邦女性性工作者中的饮酒，艾滋病毒感染状况和使用安全套之间的关系。我们使用描述性和多元统计数据分析了2009年进行的横断面调查的数据。在417名女性性工作者中，每天有五分之一的人喝酒，十分之一的人是HIV阳性。艾滋病毒阳性的女性性工作者比艾滋病毒阴性的女性性工作者每天饮酒的可能性更高（30.2％比18.0％）。日常感染艾滋病毒呈阳性的日常饮酒者与非日常饮酒呈阳性的成年人相比，经常性服务对象在最后一次性交时使用避孕套的比例较低（46.2％对79.3％），在艾滋病毒呈阴性的女性性工作者中这种关系并不明显。有必要提高对饮酒与艾滋病毒之间协同作用的认识，并在女性性工作者中筛查有问题的饮酒，以减少艾滋病毒的传播。

BACKGROUND & AIMS: OBJECTIVE:Mild traumatic brain injuries (mTBIs) have frequently been associated with the emergence and persistence of depressive symptoms. However, the factors which contribute to the increased risk for depression after these head injuries remain unclear. Accordingly, we examined the relationship between frequency of self-reported mTBIs and current symptoms of depression and the mediating role of rumination and cognitive flexibility. We also examined whether these relations were moderated by sex differences and the presence of the Val66Met polymorphism in a gene coding for brain-derived neurotrophic factor (BDNF). DESIGN:Retrospective, cross-sectional. SETTING:Carleton University. PARTICIPANTS:Two hundred nineteen Carleton University undergraduate students. MAIN OUTCOME MEASURES:Cognitive flexibility as assessed by the Wisconsin Card Sorting Task (WCST); subtypes of rumination (Ruminative Response Scale; Treynor, Gonzalez, and Nolen-Hoeksema, 2003); depressive symptoms (Beck Depression Inventory; Beck, Ward, and Mendelson, 1961). RESULTS:Greater frequency of self-reported mTBIs was associated with more frequent depressive rumination among women, but not men, which was accompanied by elevated current depressive symptoms. In addition, among Met allele carriers of the BDNF polymorphism, but not those who were Val homozygotes, greater frequency of mTBIs was related to higher levels of brooding, which was accompanied by heightened depressive symptoms. Brain-derived neurotrophic factor genotype also moderated the relationship between self-reported mTBIs and cognitive flexibility in that more frequent mTBIs were associated with more perseverative errors on the WCST among Met carriers, but not Val homozygotes. CONCLUSIONS:The present findings raise the possibility that the evolution of depression after mTBIs may be dependant on a BDNF polymorphism and sex differences.

背景与目标： 目的：轻度创伤性脑损伤（mTBI）经常与抑郁症状的出现和持续存在有关。但是，尚不清楚导致这些颅脑损伤后抑郁风险增加的因素。因此，我们检查了自我报告的mTBI的频率与当前抑郁症症状以及反刍和认知柔韧性的中介作用之间的关系。我们还检查了这些关系是否通过性别差异和在编码脑源性神经营养因子（BDNF）的基因中存在Val66Met多态性而得到缓解。
设计：回顾性横截面。
地点：卡尔顿大学。
参加者：219名卡尔顿大学的本科生。
主要观察指标：通过威斯康星卡片分类任务（WCST）评估的认知灵活性；反刍的亚型（反刍反应量表； Treynor，Gonzalez和Nolen-Hoeksema，2003年）；抑郁症状（贝克抑郁量表；贝克，沃德和门德尔森，1961年）。
结果：自我报告的mTBIs发生频率越高，女性（而不是男性）抑郁症反刍的频率就越高，这伴随着当前抑郁症症状的加剧。此外，在BDNF多态性的Met等位基因携带者中，但不是Val纯合子的携带者中，mTBI的频率增加与育卵水平升高有关，伴有抑郁症状的加剧。脑源性神经营养因子基因型还缓解了自我报告的mTBI与认知灵活性之间的关系，因为更频繁的mTBI与Met携带者的WCST持久性错误相关，而与Val纯合子无关。
结论：本研究结果提出了mTBI后抑郁症的发展可能取决于BDNF多态性和性别差异的可能性。

BACKGROUND & AIMS: :Empirical studies suggest that childhood sexual abuse is associated with sexual revictimization by a male romantic partner in female survivors. Yet, the potential mechanisms underlying this association remain understudied. Past studies indicated that women childhood sexual abuse survivors report more sexual anxiety, which in turn was linked to an increased risk of sustaining sexual coercion. The current study, conducted with a sample of 448 adult women from the community, aimed to examine sexual anxiety as a potential mechanism in the association between childhood sexual abuse and sexual coercion sustained by women in heterosexual romantic relationships. Results from path analyses confirmed the indirect effect of sexual anxiety in the relationship between childhood sexual abuse and sexual coercion victimization. Findings indicated that childhood sexual abuse is associated with higher levels of sexual anxiety, which in turn, was linked to a higher frequency of sexual coercion experiences perpetrated by the romantic partner. This study contributes to a better understanding of the determinants of sexual violence against women and provides an empirical basis to better inform prevention initiatives and guide future interventions.

背景与目标： ：经验研究表明，儿童期的性虐待与女性幸存者中男性浪漫伴侣的性重新定罪有关。然而，这种关联的潜在机制仍未得到充分研究。过去的研究表明，儿童时期遭受性虐待的女性幸存者报告称性焦虑更为严重，而这又与维持性胁迫的风险增加有关。当前的研究是对来自社区的448名成年女性进行的抽样调查，旨在检验性焦虑是儿童性虐待与女性在异性恋爱关系中维持的性强迫之间联系的一种潜在机制。路径分析的结果证实，性焦虑对儿童性虐待和性强迫受害之间的关系具有间接影响。研究结果表明，儿童时期的性虐待与更高水平的性焦虑有关，而后者又与浪漫伴侣进行性胁迫的频率更高有关。这项研究有助于更好地了解针对妇女的性暴力的决定因素，并为更好地为预防举措提供信息并指导今后的干预措施提供了经验基础。