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A novel homozygous missense variant in ARSK causes MPS X,a new subtype of mucopolysaccharidosis

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Genes & Diseases 2024年第3期11卷 87-90页

作者： Miao Sun Cornelia K.Kaminsky philip deppe Mai-Brittllse Frederic M.Vaz Barbara Plecko Torben Lubke Linda M.Randolph Division of Genomic Medicine Department of Pathology and Laboratory MedicineChildren's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA department of Radiology Children's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA department of Chemistry BiochemistryBielefeld UniversityBielefeld 33615Germany Amsterdam UMC Location University of Amsterdam Department of Clinical Chemistry and PediatricsLaboratory Genetic Metabolic DiseasesEmma Children's HospitalMeibergdreef 9Amsterdam 1100 DEthe Netherlands Amsterdam Gastroenterology Endocrinology Metabolism Inborn Errors of MetabolismAmsterdam 1105 BKthe Netherlands Core Facility Metabolomics Amsterdam UMC Location University of AmsterdamAmsterdam 1100DDthe Netherlands department of Pediatrics Division of General PediatricsMedical Universityof GrazGraz8036Austria Division of Medical Genetics Department of PediatricsChildren's Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA

Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal enzymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage of glycosaminoglycans in cells throughout the *** leads to multisystem abnormalities involving bone,connective tissues,brain,blood,spinal cord,skin,and other tissues.

关键词： metabolism doses polys

Role of ethnicity in social anxiety disorder: A cross-sectional survey among health science students

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World Journal of Clinical Cases 2014年第7期2卷 265-271页

作者： philip de.jager Sharain Suliman Soraya Seedat Vrije Universiteit Faculty of Health Sciences1055 VB AmsterdamThe Netherlands department of Psychiatry Faculty of Medicine and Health SciencesStellenbosch UniversityTygerberg 7505South Africa

AIM: To investigate the influence of ethnicity in social anxiety disorder(SAD), and the relationship with symptom severity, depression and substance use or abuse, in health sciences' ***: This was a cross-sectional survey of 112 1st, 2nd and 3rd year students from the Faculty of Medicine and Health Sciences at Stellenbosch University, Cape Town, South Africa. The self-reported Social Anxiety Spectrum questionnaire was used to assess for SAD. The Social Phobia Inventory(SPIN) was adapted to a version called the E-SPIN(Ethnic-SPIN) in order to evaluate the effects of ethnicity. Two sub-questions per stem question were included to assess whether SAD symptoms in social interactions were ethnicity dependent. Substance use was assessed with the Alcohol UseDisorders Identification Test and Drug Use Disorders Identification Test, and depression with the Centre for Epidemiological Studies depression ***: Of 112 students who completed the E-SPIN questionnaire, 54.4%(n = 61) met criteria for SAD, with significantly more females than males meeting criteria. Ethnicity had a significant effect on SAD symptomatology, but there was no effect of ethnicity on the rates of drug and alcohol abuse in students with and without SAD. Overall significantly more students with SAD met criteria for depression compared with students without the disorder. CONCLUSION: Among university students, SAD is prevalent regardless of whether interactions are with individuals of the same or different ethnic group. However, ethnicity may be an important determinant of social anxiety for some ethnic groups. SAD was significantly associated with major depression but not significantly associated with drug or alcohol abuse.

关键词： Social anxiety Social phobia Ethnicity Students South Africa

A comprehensive review of dwell time optimization methods in computer-controlled optical surfacing

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Light(Advanced Manufacturing) 2024年第3期5卷 142-171页

作者： Tianyi Wang Xiaolong Ke Lei Huang Qingqing Cui Zili Zhang Chunjin Wang Hyukmo Kang Weslin Pullen Heejoo Choi Daewook Kim Vipender Negi Qian Kemao Yi Zhu Stefano Giorgio philip Boccabella Nathalie Bouet Corey Austin Mourad Idir National Synchrotron Light Source II(NSLS-II) Brookhaven National LaboratoryP.O.Box 5000UptonNY 11973USA School of Mechanical and Automotive Engineering Xiamen University of TechnologyXiamen 361024China State Key Laboratory of Ultra-precision Machining Technology Department of Industrial Systems and EngineeringThe Hong Kong Polytechnic UniversityHung HomKowloonHong KongChina James C.Wyant College of Optical Sciences University of Arizona1630 E.University Blvd.P.O.Box 210094TucsonAZ 85721-0094USA Large Binocular Telescope Observatory University of ArizonaTucsonAZ 85721USA department of Astronomy and Steward Observatory University of Arizona933 N.Cherry Ave.TucsonAZ85721USA Indian Institute of Technology delhi Hauz KhasNew Delhi 110016India School of Computer Science and Engineering Nanyang Technological University50 Nanyang AvenueSingapore 639798

Dwell time plays a vital role in determining the accuracy and convergence of the computer-controlled optical surfacing ***,optimizing dwell time presents a challenge due to its ill-posed nature,resulting in non-unique *** address this issue,several well-known methods have emerged,including the iterative,Bayesian,Fourier transform,and matrix-form *** their independent development,these methods share common objectives,such as minimizing residual errors,ensuring dwell time's positivity and smoothness,minimizing total processing time,and enabling flexible dwell *** paper aims to comprehensively review the existing dwell time optimization methods,explore their interrelationships,provide insights for their effective implementations,evaluate their performances,and ultimately propose a unified dwell time optimization methodology.

关键词： Dwell time optimization Computer-controlled optical surfacing Finishing Polishing Optical fabrication

Performance Characterization of Game Recommendation Algorithms on Online Social Network Sites

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Journal of Computer Science & Technology 2012年第3期27卷 611-623页

作者： philip Leroux Bart Dhoedt Piet demeester Filip de Turck department of Information Technology Interdisciplinary Institute for Broadband Technology(IBBT) Ghent UniversityG.Crommenlaan 8/201B-9050 GentBelgiumStudent MemberIEEE department of Information Technology Interdisciplinary Institute for Broadband Technology(IBBT) Ghent UniversityG.Crommenlaan 8/201B-9050 GentBelgiumMemberIEEE department of Information Technology Interdisciplinary Institute for Broadband Technology(IBBT) Ghent UniversityG.Crommenlaan 8/201B-9050 GentBelgiumFellowIEEE department of Information Technology Interdisciplinary Institute for Broadband Technology(IBBT) Ghent UniversityG.Crommenlaan 8/201B-9050 GentBelgiumSenior MemberIEEE

Since years, online social networks have evolved from profile and communication websites to online portals where people interact with each other, share and consume multimedia-enriched data and play different types of games. Due to the immense popularity of these online games and their huge revenue potential, the number of these games increases every day, resulting in a current offering of thousands of online social games. In this paper, the applicability of neighborhood-based collaborative filtering （CF） algorithms for the recommendation of online social games is evaluated. This evaluation is based on a large dataset of an online social gaming platform containing game ratings （explicit data） and online gaming behavior （implicit data） of millions of active users. Several similarity metrics were implemented and evaluated on the explicit data, implicit data and a combination thereof. It is shown that the neighborhood-based CF algorithms greatly outperform the content-based algorithm, currently often used on online social gaming websites. The reslflts also show that a combined approach, fie, taking into account both implicit and explicit data at the same time, yields overall good results on all evaluation metrics for all scenarios, while only slightly performing worse compared to the strengths of the explicit or implicit only approaches. The best performing algorithms have been implemented in a live setup of the online game platform.

关键词： mining method and algorithm data mining personalization

Evaluating the impact of auxiliary fan practices on localised subsurface ventilation

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International Journal of Mining Science and Technology 2019年第6期29卷 933-941页

作者： David J.de Villiers Marc J.Mathews philip Maré Marius Kleingeld deon Arndt Centre for Research and Continued Engineering development North-West University

Mines are continually expanding in size and depth,leading to an increased reliance on localised subsurface ventilation *** use of underground auxiliary fans is a favoured method to increase and control airflow in working ***,the effectiveness of auxiliary fans in this regard is not *** paper evaluated the performance of these underground fan systems in four different South African deeplevel gold mines.A total auxiliary fan system efficiency of 5%was found across six systems,with the average fan efficiency of 33 fans at 38%.The results showed that these fans deviate significantly from their design operating ***,there are significant shortcomings in current underground fan *** detailed investigations led to the conclusion that the assemblage of underground auxiliary fan systems results in significant energy ***,maintaining good underground fan practice such as optimal fan selection,ducting design and maintenance is crucial for the efficacy of a mine ventilation network.

关键词： Mine ventilation Underground fan assemblage Fan system performance

“One-day,one-stay,and one-step”lessons from the Danish guidelines for the treatment of gallstone disease

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Hepatobiliary Surgery and Nutrition 2023年第4期12卷 607-610页

作者： Robert C.Verdonk philip R.de Reuver department of Gastroenterology&Hepatology St.Antonius HospitalNieuwegeinThe Netherlands department of Surgery Radboud University Medical CenterNijmegenThe Netherlands

*** disease is prevalent worldwide,and the incidence in Europe increased over the last *** median prevalence ranges from 5.9%to 21.9%,with the highest rates seen in Norway(21.9%)and the eastern part of Germany(19.7%)a... 详细信息

关键词： Uncomplicated gallstone disease cholecystitis common bile duct stones

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面向全球南方的人才竞争加剧

世界教育信息 2024年第2期37卷 3-6页

作者：菲利普·G.阿特巴赫汉斯·德威特刘进波士顿学院国际高等教育研究中心波士顿MA02467 北京理工大学教育学院北京100081

半个多世纪以前,学生国际流动开始受到大学的关注,包括师生和科研人员在内的人才流失被认为对人才来源国造成直接损失。21世纪以来,人才流失成为全球人才流动的常见模式,人才流入和人才环流两个概念的出现意味着人才流动可能具有积极意... 详细信息

半个多世纪以前,学生国际流动开始受到大学的关注,包括师生和科研人员在内的人才流失被认为对人才来源国造成直接损失。21世纪以来,人才流失成为全球人才流动的常见模式,人才流入和人才环流两个概念的出现意味着人才流动可能具有积极意义。虽然海外分校、特许经营项目、“三明治课程”一定程度上帮助全球南方国家获得发展,全球北方国家的主流政策仍致力于提高国际学生的居留率,以增加其熟练劳动力数量,进而促进经济发展和应对人口老龄化。对六个北方国家的大学教师教育经历与职业流动情况的研究也发现,近年来六国拥有南方国家教育经历的大学教师比率不断增加,且跨国攻读博士学位是学术人才流失的主要通道,再次证明南方国家学术人才流失的加剧。

关键词：全球南方全球北方人才争夺人才流失人才流入人才环流

Interleukin-1 and estrogen protect against disseminating dentoalveolar infections

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International Journal of Oral Science 2017年第1期9卷 16-23页

作者： hesham youssef philip stashenko host-microbiome center department of applied oral sciencesthe forsyth instituteCambridgeUSA

dentoalveolar bacterial infections cause localized tissue and bone destruction, but usually remain well-localized within teeth in immunocompetent hosts. However, in certain cases these infections may invade head and neck tissues, resulting in orofacial abscesses, cellulitis and sepsis, with resultant high morbidity and even mortality. In the present studies, we developed a novel model of spreading dentoalveolar infections in mice by treatment with neutralizing antibodies against both interleukin-la （IL-1a） and IL-1β. Surprisingly male but not female mice given anti-lL-1 antibodies developed orofacial abscesses, weight loss, splenomegaly and sepsis. Female mice developed abscesses and sepsis comparable to males following ovariectomy （OVX）, which was reversed by estrogen supplementation. Anti-lL-1 blockade inhibited IL-12, interferon y （IFNy） and IL-6 but not IL-IO expression in infrabony lesions, suggestive of a local anti-inflammatory response. There was greater infiltration of neutrophils and other inflammatory ceils into lesions in anti-lL-l-treated animals; however, blood leukocytes had reduced bacterial phagocytic and killing activity ex vivo. Estrogen directly stimulated IL-1 production by macrophages, suggesting that the resistance of females to disseminating dentoalveolar infections may be due to their heightened pro-inflammatory responses following bacterial challenge, leading to enhanced localization of these infections.

关键词： cytokines dentoalveolar disseminating infections estrogen neutrophils

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面向未来的国际高等教育

世界教育信息 2024年第8期37卷 3-7页

作者：汉斯·德威特菲利普·G.阿尔特巴赫陈咏思(翻译) 不详北京外国语大学高级翻译学院

在过去几年中,高等教育国际化经历着教育模式转变、学生国际流动变化、在地国际化受关注、高等教育碳中和的重要性提升等变化,面临着不平等加剧问题,以及地缘政治紧张局势和知识安全带来的新危机等。国际高等教育应回归传统价值观,通过... 详细信息

在过去几年中,高等教育国际化经历着教育模式转变、学生国际流动变化、在地国际化受关注、高等教育碳中和的重要性提升等变化,面临着不平等加剧问题,以及地缘政治紧张局势和知识安全带来的新危机等。国际高等教育应回归传统价值观,通过自身三大使命,利用学术界的力量解决主要挑战,具体包括:更加关注碳中和,提升学术流动的多样化和包容性,重视国内课程的国际化,将数字化视为教育和科研的一个综合维度而非替代品,促进平等的学术合作,支持基于包容、自主和学术自由等共同学术价值观的全球学术参与。

关键词：国际高等教育在线教育学生国际流动学术合作