473 research outputs found

    European bone mineral density loci are also associated with BMD in East-Asian populations

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    To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldMost genome-wide association (GWA) studies have focused on populations of European ancestry with limited assessment of the influence of the sequence variants on populations of other ethnicities. To determine whether markers that we have recently shown to associate with Bone Mineral Density (BMD) in Europeans also associate with BMD in East-Asians we analysed 50 markers from 23 genomic loci in samples from Korea (n = 1,397) and two Chinese Hong Kong sample sets (n = 3,869 and n = 785). Through this effort we identified fourteen loci that associated with BMD in East-Asian samples using a false discovery rate (FDR) of 0.05; 1p36 (ZBTB40, P = 4.3×10(-9)), 1p31 (GPR177, P = 0.00012), 3p22 (CTNNB1, P = 0.00013), 4q22 (MEPE, P = 0.0026), 5q14 (MEF2C, P = 1.3×10(-5)), 6q25 (ESR1, P = 0.0011), 7p14 (STARD3NL, P = 0.00025), 7q21 (FLJ42280, P = 0.00017), 8q24 (TNFRSF11B, P = 3.4×10(-5)), 11p15 (SOX6, P = 0.00033), 11q13 (LRP5, P = 0.0033), 13q14 (TNFSF11, P = 7.5×10(-5)), 16q24 (FOXL1, P = 0.0010) and 17q21 (SOST, P = 0.015). Our study marks an early effort towards the challenge of cataloguing bone density variants shared by many ethnicities by testing BMD variants that have been established in Europeans, in East-Asians

    Pump RIN-induced impairments in unrepeatered transmission systems using distributed Raman amplifier

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    High spectral efficiency modulation format based unrepeatered transmission systems using distributed Raman amplifier (DRA) have attracted much attention recently. To enhance the reach and optimize system performance, careful design of DRA is required based on the analysis of various types of impairments and their balance. In this paper, we study various pump RIN induced distortions on high spectral efficiency modulation formats. The vector theory of both 1st and higher-order stimulated Raman scattering (SRS) effect using Jones-matrix formalism is presented. The pump RIN will induce three types of distortion on high spectral efficiency signals: intensity noise stemming from SRS, phase noise stemming from cross phase modulation (XPM), and polarization crosstalk stemming from cross polarization modulation (XPolM). An analytical model for the statistical property of relative phase noise (RPN) in higher order DRA without dealing with complex vector theory is derived. The impact of pump RIN induced impairments are analyzed in polarization-multiplexed (PM)-QPSK and PM-16QAM-based unrepeatered systems simulations using 1st, 2nd and 3rd-order forward pumped Raman amplifier. It is shown that at realistic RIN levels, negligible impairments will be induced to PM-QPSK signals in 1st and 2nd order DRA, while non-negligible impairments will occur in 3rd order case. PM-16QAM signals suffer more penalties compared to PM-QPSK with the same on-off gain where both 2nd and 3rd order DRA will cause non-negligible performance degradations. We also investigate the performance of digital signal processing (DSP) algorithms to mitigate such impairments

    Genome-Wide Association Study of Hepatocellular Carcinoma in Southern Chinese Patients with Chronic Hepatitis B Virus Infection

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    One of the most relevant risk factors for hepatocellular carcinoma (HCC) development is chronic hepatitis B virus (HBV) infection, but only a fraction of chronic HBV carriers develop HCC, indicating that complex interactions among viral, environmental and genetic factors lead to HCC in HBV-infected patients. So far, host genetic factors have incompletely been characterized. Therefore, we performed a genome-wide association (GWA) study in a Southern Chinese cohort consisting of 95 HBV-infected HCC patients (cases) and 97 HBV-infected patients without HCC (controls) using the Illumina Human610-Quad BeadChips. The top single nucleotide polymorphisms (SNPs) were then validated in an independent cohort of 500 cases and 728 controls. 4 SNPs (rs12682266, rs7821974, rs2275959, rs1573266) at chromosome 8p12 showed consistent association in both the GWA and replication phases (ORcombined = 1.31–1.39; pcombined = 2.71×10−5–5.19×10−4; PARcombined = 26–31%). We found a 2.3-kb expressed sequence tag (EST) in the region using in-silico data mining and verified the existence of the full-length EST experimentally. The expression level of the EST was significantly reduced in human HCC tumors in comparison to the corresponding non-tumorous liver tissues (P<0.001). Results from sequence analysis and in-vitro protein translation study suggest that the transcript might function as a long non-coding RNA. In summary, our study suggests that variations at chromosome 8p12 may promote HCC in patients with HBV. Further functional studies of this region may help understand HBV-associated hepatocarcinogenesis

    Controle de arritmias atriais com período refratário atrial controlado por sensor e mudança automática de modo em pacientes portadores de marcapasso dupla-câmara com sensor de ventilaçao por minuto

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    Apesar de um longo período refratário atrial pós evento ventricular (PVARP) poder prevenir a ocorrência de taquicardias mediadas pelo marca passo e também o sincronismo inapropriado com arritmias atriais na estimulaçao dupla-câmara (DDD) a limitaçao da freqüência máxima será necessariamente comprometida. Testamos a possibilidade de utilizar um marca passo dupla-câmara com sensor de ventilaçao por minuto (DDDR) e com capacidade de encurtar o PVARP durante o exercício em 13 pacientes com bradicardia (PVARP em repouso = 463 ± 29 ms) a fim de prevenir a limitaçao prematura da freqüência máxima. O teste de esforço em esteira nos modos DDD e DDDR com este PVARP resultou em freqüências máximas de 98 bpm ± 8 bpm e 142 bpm ± 3 bpm respectivamente (P < 0,DDD1). Estes resultados foram obtidos graças à incompetência cronotrópica e à limitaçao da freqüência máxima no modo DDD, ambas contornadas pelo uso do sensor. Com a finalidade de simular arritmias atriais, foi aplicada estimulaçao na parede torácica por 30 segundos, a uma freqüência de 250 bpm e com uma sensibilidade atrial uni polar média de 0,82 mV. No modo DDD, ocorreu uma resposta ventricular irregular (as freqüências com um PVARP de 280 ms e 463 ms ± 29 ms foram respectivamente 92 bpm ± 5 bpm e 66 bpm ± 3 bpm (P < 0,DDD1). No modo DDDR, com um PVARP de 463 ms ± 29 ms, ocorreu uma estimulaçao ventricular regular a 53 bpm ± 2 bpm, devida à mudança de mDDD para VVIR, na presença de eventos repetitivos captados dentro do PVARP. Um paciente desenvolveu fibrilaçao atrial espontânea durante o seguimento, que foi corretamente identificada pelo algoritmo do marcapasso, resultando na mudança de modo de DDDR para WIR e na preservaçao da resposta em freqüência. Em conclusao, o PVARP controlado pelo sensor permite a utilizaçao de um PVARP mais longo durante o repouso, sem comprometer a freqüência máxima durante o exercício. Adicionalmente, ao oferecer em proteçao contra conduçao retrógrada, o PVARP longo e a mudança automática de mDDD também limitam a freqüência durante as arritmias atriais, permitindo uma resposta ventricular de acordo com a demanda fisiológica

    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    Nurse-Led Brief Intervention for Enhancing Safe Sex Practice Among Emerging Adults in Hong Kong Using Instant Messaging: Feasibility Study

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    BACKGROUND: The incidence of sexually transmitted infections has been increasing throughout the world. Additionally, substantial changes in emerging adults\u27 attitudes toward sex and the popularization of premarital sex could further affect the diagnosis and treatment of sexually transmitted infections. With the high acceptability and effectiveness of instant messaging (IM) interventions for health promotion, there is potential for such interventions to improve condom use knowledge and promote safer sex practice. OBJECTIVE: The study evaluates the feasibility of a nurse-led IM intervention to promote safer sex practices in emerging adults. METHODS: A 30-minute adaptive IM intervention and a 5-day booster dose of daily messages after 2 weeks through WhatsApp (Meta Platforms, Inc) were conducted with emerging adults in local universities in Hong Kong aged between 18 and 29 years with previous sexual experience. A questionnaire was distributed 1 week after the intervention that measured the consistency in condom use, the change in condom use knowledge and attitudes, and the acceptability of the intervention. The feasibility of the intervention was assessed by Bowen\u27s feasibility framework. RESULTS: A total of 20 participants completed the intervention and questionnaire. Results showed (1) high satisfaction level (mean satisfaction score: 9.10/10), (2) high demand of the intervention (retention rate: 95%), (3) smooth implementation of the intervention, (4) high practicality (13/20, 65% of the participants viewed IM to be an effective means of intervention), (5) potential integration of the intervention, and (6) significant mean increase in condom use knowledge and attitudes (mean increase 9.05; t CONCLUSIONS: The IM intervention was feasible, acceptable, and had potential impacts on improving safer sex practices. These findings will support the future development of IM interventions in the arena of sexual health promotion
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