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Multi-omics analyses of G6PD deficiency variants in Chinese population

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Journal of Genetics and Genomics 2024年第1期51卷 100-104页

作者： He Ji Jiahuan Chen Peide Huang Zhimin Feng Weining Hu Mengyao Dai Xiaohui Sun Xiao Jin Guangquan Chen Guang Ning Lin Li Weiqing Wang Yanan Cao Department of Endocrine and Metabolic Diseases Shanghai Institute of Endocrine and Metabolic DiseasesNational Clinical Research Centre for Metabolic DiseasesState Key Laboratory of Medical GenomicsResearch Unit of Clinical and Basic Research on Metabolic Diseases of Chinese Academy of Medical SciencesRuijin Yangtze River Delta Health InstituteWuxi Branch of Ruijin HospitalRuijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China National research Center for Translational medicine National Key Scientific Infrastructure for Translational MedicineShanghai Jiao Tong UniversityShanghai 200240China SJTU-BGI Innovation research Center Shanghai 200240China BGI-ShenZhen ShenzhenGuangdong 518083China

Glucose-6-phosphate dehydrogenase(G6PD)deficiency is one of the most prevalent hereditary and X-linked enzyme disorders caused by the pathogenetic G6PD(NM_001042351.2)variants(Yang et al.,2016).The clinical manifestations of G6PD deficiency offer a wide spectrum of diverse disease phenotypes(Hecker et al.,2013).Investigations of prevalence and molecular epidemiology demonstrate that G6PD deficiency affects over 400 milion individuals worldwide and leads to thousands of deaths annually(Mortality and Causes of Death,2015).

关键词： al. G6PD epidemiology

LP modes exchange based on multiplane light conversion

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Chinese Optics Letters 2024年第3期22卷 14-18页

作者：钟亚楠林楚璇方浚丞雷霆袁小聪 Nanophotonics research centre Shenzhen Key Laboratory of Micro-Scale Optical Information Technology&Institute of Microscale OptoelectronicsShenzhen UniversityShenzhen 518060China

Data exchange between different mode channels is essential in the optical communication network with mode-division multiplexing(MDM).However,there are challenges in realizing mode exchange with low insert loss,low mode crosstalk,and high ***,we designed and fabricated a mode exchange device based on multiplane light conversion(MPLC),which supports the transmission of LP01,LP11a,LP11b,and LP21 modes in the C-band and *** simulated exchanged mode purities are greater than 85%.The phase masks were fabricated on a silicon substrate to facilitate the integration with optical systems,with an insert loss of less than 2.2 dB and mode crosstalk below-21 dB due primarily to machining inaccuracies and alignment *** carried out an optical communication experiment with 10 Gbit/s OOK and QPSK data transmission at the wavelength of 1550 nm and obtained excellent performance with the *** paves the way for flexible data exchange as a building block in MDM optical communication networks.

关键词： mode exchange mode-division multiplexing multiplane light conversion

Impact of cancer diagnosis on life expectancy by area-level socioeconomic groups in New South Wales, Australia: a population-based study

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Cancer Biology & medicine 2024年第8期21卷 692-702页

作者： Md Mijanur Rahman Michael David David Goldsbury Karen Canfell Kou Kou Paramita Dasgupta Peter Baade Xue Qin Yu The Daffodil centre The University of Sydney A Joint Venture with Cancer Council NSW School of medicine and Dentistry Griffith University Cancer Council Queensland

Objective: Improvement in cancer survival over recent decades has not been accompanied by a narrowing of socioeconomic disparities. This study aimed to quantify the loss of life expectancy(LOLE) resulting from a cancer diagnosis and examine disparities in LOLE based on area-level socioeconomic status(SES).Methods: Data were collected for all people between 50 and 89 years of age who were diagnosed with cancer, registered in the NSW Cancer Registry between 2001 and 2019, and underwent mortality follow-up evaluations until December 2020. Flexible parametric survival models were fitted to estimate the LOLE by gender and area-level SES for 12 common ***: Of 422,680 people with cancer, 24% and 18% lived in the most and least disadvantaged areas, respectively. Patients from the most disadvantaged areas had a significantly greater average LOLE than patients from the least disadvantaged areas for cancers with high survival rates, including prostate [2.9 years(95% CI: 2.5±3.2 years) vs. 1.6 years(95% CI: 1.3±1.9 years)] and breast cancer [1.6 years(95% CI: 1.4±1.8 years) vs. 1.2 years(95% CI: 1.0±1.4 years)]. The highest average LOLE occurred in males residing in the most disadvantaged areas with pancreatic [16.5 years(95% CI: 16.1±16.8 years) vs. 16.2 years(95% CI: 15.7±16.7 years)] and liver cancer [15.5 years(95% CI: 15.0±16.0 years) vs. 14.7 years(95% CI: 14.0±15.5 years)]. Females residing in the least disadvantaged areas with thyroid cancer [0.9 years(95% CI: 0.4±1.4 years) vs. 0.6 years(95% CI: 0.2±1.0 years)] or melanoma [0.9 years(95% CI: 0.8±1.1 years) vs. 0.7 years(95% CI: 0.5±0.8 years)] had the lowest average ***: Patients from the most disadvantaged areas had the highest LOLE with SES-based differences greatest for patients diagnosed with cancer at an early stage or cancers with higher survival rates, suggesting the need to prioritise early detection and reduce treatment-related barriers and survivorship challenges to improve life expec

关键词： Cancer diagnosis area-level socioeconomic status flexible parametric model life expectancy loss of life expectancy

Artificial synthesis of polyesters at ambient condition via consecutive CO_(2)electrolysis and fermentation

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Nano research 2024年第7期17卷 6016-6025页

作者： Guiru Zhang Ning Ji Shiheng Lyu Baoxin Ni Peng Shen Ke Ye Yuting Wang Xuheng Jiang Hai Zhang Xi Liu Yongcheng Wang Kun Jiang Department of Laboratory medicine of The First Affiliated Hospital&Liangzhu Laboratory Zhejiang University School of MedicineHangzhou 310058China Interdisciplinary research Center School of Mechanical EngineeringShanghai Jiao Tong UniversityShanghai 200240China In-situ centre for Physical Sciences Frontiers Science Center for Transformative MoleculesSchool of Chemistry and Chemical EngineeringShanghai Jiao Tong UniversityShanghai 200240China

Electrochemically converting CO_(2)into value-added chemicals is a promising approach to mitigate anthropogenic carbon emissions,yet largely limited to short-chained C_(1)–C_(3)***,we demonstrate a tandem artificial synthesis of biodegradable polyhydroxybutyrate(PHB)plastic from CO_(2)building *** synthesis of defects-enriched Bi catalyst is firstly demonstrated by plasma bombardment and following in situ electrochemical reduction,which delivers a HCOOH Faradaic efficiency above 80%at tunable concentration from 2 to 250 mM,an energy efficiency up to 41%,and a single-pass carbon conversion efficiency up to 60%.Annular dark field and second electron microscopic analysis,density functional theory(DFT)calcualtions,coupled with H-type and solid-state electrolyzer assessments,point out the vital role of defective and/or stepped Bi surface sites in promoting CO_(2)-to-HCOOH ***,as-synthesized high-purity HCOOH is used as the sole carbon source for C-chain growth within microbial fermentation reactor with Ralstonia eutropha,where activated formate dehydrogenase and increased metabolites related to Calvin–Benson–Bassham cycle are found to be responsible for the enhanced polyester accumulation.

关键词： CO_(2)electrolysis Bi catalyst vacancy site formic acid fermentation

Device-measured physical activity and sedentary time in the Nordic countries:A scoping review of population-based studies

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Journal of Sport and Health Science 2024年第5期13卷 650-660页

作者： Ing-Mari Dohrn Jakob Tarp Jostein Steene-Johannessen Tommi Vasankari Maria Hagströmer Division of Physiotherapy Department of NeurobiologyCare Sciences and SocietyKarolinska Institutet14183 HuddingeSweden Department of Sports medicine Norwegian School of Sports Sciences0806 OsloNorway UKK Institute for Health Promotion research 33500 TampereFinland Faculty of medicine and Health Technology Tampere University33100 TampereFinland Academic Primary Health Care centre Region Stockholm13365 StockholmSweden

Purpose:The purpose of this scoping review was to summarize and describe the methodology and results from population-based studies of physical activity and sedentary time measured with devices in the Nordic countries(Denmark,Finland,Iceland,Norway,and Sweden)and published in 2000 or ***:A systematic search was carried out in PubMed and Web of Science in June 2023 using predefined search ***:Fourteen unique research projects or surveillance studies were ***,2 surveillance studies published by national agencies were included,resulting in a total of 16 studies for *** surveillance systems exist in Finland and Norway,with regular survey waves in school-aged children/adolescents and *** Denmark,recent nationally representative data have been collected in school children *** far,Sweden has no regular national surveillance system using device-based data *** studies were found from *** first study was conducted in 2001 and the most recent in 2022,with most data collected from 2016 to *** studies included children/adole scents 6-18 years,no study included *** total 11 studies included adults,of which 8 also covered older *** study focused specifically on older *** analytical sample size ranged from 205 to 27,*** methodology is presented,such as information on sampling strategy,device type and placement,wear protocols,and physical activity classification *** of physical activity and sedentary time in children/adolescents,adults,and older adults across the Nordic countries are ***:A growing implementation of device-based population surveillance of physical activity and sedentary behavior in the Nordic countries has been *** variety of devices,placement,and data procedures both within and between the Nordic countries highlights the challenges when it comes to comparing study outcomes as well as the need for more standa

关键词： Accelerometer Light intensity Moderate-vigorous intensity Surveillance Wearable devices

Etiology and management of urethral calculi:A systematic review of contemporary series

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Asian Journal of Urology 2024年第1期11卷 10-18页

作者： Andrew Morton Arsalan Tariq Nigel Dunglison Rachel Esler Matthew J.Roberts Faculty of medicine The University of QueenslandBrisbaneQueenslandAustralia Department of Urology Ipswich HospitalQueenslandAustralia Department of Urology Royal Brisbane and Women's HospitalQueenslandAustralia The University of Queensland centre for Clinical research HerstonAustralia

Objective:To conduct a systematic literature review on urethral calculi in a contemporary cohort describing etiology,investigation,and management ***:A systematic search of MEDLINE and Cochrane Central Register of Controlled Trials(CENTRAL)databases was ***,including case reports and case series on urethral calculi published between January 2000 and December 2019,were ***-text manuscripts were reviewed for clinical parameters including symptomatology,etiology,medical history,investigations,treatment,and *** were collated and analyzed with univariate ***:Seventy-four publications met inclusion criteria,reporting on 95 *** symptoms(41.1%),pain(40.0%),and acute urinary retention(32.6%)were common presenting *** calculi were most often initially investigated using plain X-ray(63.2%),with almost all radio-opaque(98.3%).Urethral calculi were frequently associated with coexistent bladder or upper urinary tract calculi(16.8%)and underlying urethral pathology(53.7%)including diverticulum(33.7%)or stricture(13.7%).Urethral calculi were most commonly managed with external urethrolithotomy(31.6%),retrograde manipulation(22.1%),and endoscopic in situ lithotripsy(17.9%).Conclusion:This unique systematic review of urethral calculi provided a summary of clinical features and treatment trends with a suggested treatment *** in contemporary urological practice should be according to calculus size,shape,anatomical location,and presence of urethral pathology.

关键词： Urinary calculi Urethra Urethral calculi Management algorithm

The immune response to SARS-CoV-2 in people with HIV

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Cellular & Molecular Immunology 2024年第2期21卷 184-196页

作者： Maxine A.Höft Wendy A.Burgers Catherine Riou Institute of Infectious Disease and Molecular medicine University of Cape TownCape TownSouth Africa Division of Medical Virology Department of PathologyUniversity of Cape TownCape TownSouth Africa Wellcome centre for Infectious Diseases research in Africa University of Cape TownCape TownSouth Africa

This review examines the intersection of the HIV and SARS-CoV-2 *** with HIV(PWH)are a heterogeneous group that differ in their degree of immune suppression,immune reconstitution,and viral *** COVID-19 in those with wellcontrolled HIV infection poses no greater risk than that for HIV-uninfected individuals,people with advanced HIV disease are more vulnerable to poor COVID-19 ***-19 vaccines are effective and well tolerated in the majority of PWH,though reduced vaccine efficacy,breakthrough infections and faster waning of vaccine effectiveness have been demonstrated in *** is likely a result of suboptimal humoral and cellular immune responses after *** with advanced HIV may also experience prolonged infection that may give rise to new epidemiologically significant variants,but initiation or resumption of antiretroviral therapy(ART)can effectively clear persistent ***-19 vaccine guidelines reflect these increased risks and recommend prioritization for vaccination and additional booster doses for PWH who are moderately to severely *** recommend continued research and monitoring of PWH with SARS-CoV-2 infection,especially in areas with a high HIV burden.

关键词： SARS-CoV-2 HIV Immune dysfunction Vaccine efficacy Prolonged infection Immunogenicity

Countermeasures to reduce the risk of infections at the 2024 Olympic and Paralympic Games—A balancing act

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Journal of Sport and Health Science 2024年第6期13卷 722-725页

作者： Marcel Jooste Martin Schwellnus Sport Exercise Medicine and Lifestyle Institute(SEMLI)Faculty of Health SciencesUniversity of PretoriaPretoria 0083South Africa Section Sports medicine Faculty of Health SciencesUniversity of PretoriaPretoria 0083South Africa IOC research centre of South Africa Pretoria 0083South Africa

The Olympic and Paralympic Games are a global celebration of athletic dedication and achievement,bringing together athletes and spectators from around the ***,such large gatherings present public health challenges for the Organizing Committees and local *** highlighted by the coronavirus disease 2019(COVID-19)pandemic,these events are associated with an increased risk of transmission of infections,which can significantly impact the health and well-being of athletes and *** the health and safety of athletes,officials and spectators is fundamental to ensure the successful hosting of the ***,it is essential to design and implement comprehensive countermeasures to mitigate the risk of an infectious disease outbreak among participants but also to the residents of the host city.

关键词： gathering bringing infections

Process,Material,and Regulatory Considerations for 3D Printed Medical Devices and Tissue Constructs

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Engineering 2024年第5期36卷 146-166页

作者： Wei Long Ng Jia Anb Chee Kai Chua Singapore centre for 3D Printing(SC3DP) School of Mechanical and Aerospace EngineeringNanyang Technological UniversitySingapore 639798Singapore centre for Healthcare Education Entrepreneurship and Research@SUTD(CHEERS)Singapore University of Technology and DesignSingapore 487372Singapore

Three-dimensional(3D)printing is a highly automated platform that facilitates material deposition in a layer-by-layer approach to fabricate pre-defined 3D complex structures on *** is a highly promising technique for the fabrication of personalized medical devices or even patient-specific tissue *** type of 3D printing technique has its unique advantages and limitations,and the selection of a suitable 3D printing technique is highly dependent on its intended *** this review paper,we present and highlight some of the critical processes(printing parameters,build orientation,build location,and support structures),material(batch-to-batch consistency,recycling,protein adsorption,biocompatibility,and degradation properties),and regulatory considerations(sterility and mechanical properties)for 3D printing of personalized medical *** goal of this review paper is to provide the readers with a good understanding of the various key considerations(process,material,and regulatory)in 3D printing,which are critical for the fabrication of improved patient-specific 3D printed medical devices and tissue constructs.

关键词： 3D printing Bioprinting Biofabrication Medical devices Tissue constructs