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9th International Conference on Business and Industrial Research, ICBIR 2024

作者： Ahmad Najmee, Nur Aresya Hassan, Rosilah Mohammed, Zainora Fadzil, Norliza Mohamad Abd Rahman, Mohd Harimi Mohamad Arif, Nuratiqah Nadhirah Universiti Kebangsaan Malaysia Optometry and Vision Sciences Program Centre of Rehabilitation and Special Needs Study Faculty of Health Sciences Kuala Lumpur Malaysia Universiti Kebangsaan Malaysia Bangi Centre for Cyber Security Faculty of Information Science and Technology Selangor Malaysia

ISBN: (纸本)9798350383010

This paper employed the System Development Life Cycle (SDLC) to create a visual attribute profile for visually impaired students. The profile, drawn from a substantial dataset, considers age, tasks, and severity of impairments. It is crucial for inclusive education in blind and special schools, aiding teachers and physicians. Demographic information, including age, gender, education, medical records, and low vision aid prescriptions, is gathered. Visual attributes are assessed through comprehensive eye examinations, calculating students' visual demands based on classroom settings. The study follows the Waterfall Model within the SDLC, encompassing stages like requirement gathering and analysis, system design and implementation. Demographic data and visual attributes are integrated into big data, generating output based on calculated demands. Feedback from most of school database users underscores the importance of information on visual characteristics for effective management of visually impaired students. Notably, 67% highlight the current database's lack of such information. Thus, this profiling initiative is a strategic move toward addressing evidence-based visual characteristics and demands, providing valuable insights for educators, optometrists, and clinical instructors to tailor management strategies. © 2024 IEEE.

关键词： Students

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Systematic Framework: Profiling Visual Attributes of Visually Impaired Students

Systematic Framework: Profiling Visual Attributes of Visuall...

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International Conference on Business and Industrial Research (ICBIR)

作者： Nur Aresya Ahmad Najmee Rosilah Hassan Zainora Mohammed Norliza Mohamad Fadzil Mohd Harimi Abd Rahman Nuratiqah Nadhirah Mohamad Arif Optometry and Vision Sciences Program (Centre of Rehabilitation and Special Needs Study Faculty of Health Sciences Universiti Kebangsaan Malaysia Kuala Lumpur Malaysia (Centre for Cyber Security) Faculty of Information Science and Technology Universiti Kebangsaan Malaysia Bangi Selangor Malaysia

ISBN: (数字)9798350383027

ISBN: (纸本)9798350383034

关键词： Visualization Analytical models Systematics Education Visual impairment Medical services Big Data Visual databases System analysis and design Business

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Clinical and demographic factors affecting trough levels of isavuconazole in critically ill patients with or without COVID-19

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MYCOSES 2023年第12期66卷 1071-1078页

作者： Bertram, Ralph Naumann, Hans-Theodor Bartsch, Vanessa Hitzl, Wolfgang Kinzig, Martina Haarmeyer, Golo-Sung Baumgaertel, Matthias Geise, Arnim Muschner, Dorothea Nentwich, Jens John, Stefan Soergel, Fritz Steinmann, Joerg Hoehl, Rainer Paracelsus Med Univ Inst Clin Hyg Med Microbiol & Infectiol Klinikum Nurnberg Nurnberg Germany Paracelsus Med Univ Study Program Human Med Nurnberg Germany Paracelsus Med Univ Dept Res & Innovat Management Biostat & Publicat Clin Trial Studies A-5020 Salzburg Austria Paracelsus Med Univ Dept Ophthalmol & Optometry Salzburg Austria Paracelsus Med Univ Res Program Expt Ophthalmol & Glaucoma Res Salzburg Austria Inst Biomed & Pharmaceut Res Nurnberg Germany Paracelsus Med Univ Nuremberg Dept Resp Med Nurnberg Germany Paracelsus Med Univ Dept Cardiol Klinikum Nurnberg Intens Care Med Nurnberg Germany Univ Duisburg Essen Inst Pharmacol West German Heart & Vasc Ctr Essen Germany Klinikum Nurnberg Inst Clin Hyg Med Microbiol & Infectiol Prof Ernst Nathan Str 1 D-90419 Nurnberg Germany Tech Univ Dresden Univ Hosp Carl Gustav Carus Dept Med 1 Intens Care Unit Dresden Germany

Background: The broad-spectrum antifungal isavuconazole is administered to treat invasive aspergillosis and mucormycosis. Objectives: Isavuconazole plasma concentrations in critically ill ICU patients with or without COVID-19 and invasive fungal infection were determined, and factors for sub-therapeutic drug levels (<1 mu g/mL) were evaluated. Patients and Methods: Isavuconazole plasma levels were measured as part of therapeutic drug monitoring (TDM) in ICUs of a tertiary hospital. Concentrations determined 20-28 h after previous dosing were defined as trough (Cmin) levels. A total of 160 Cmin levels from 62 patients with invasive fungal infections were analysed, 30 of which suffering from COVID-19. Patient characteristics included into univariable and multivariable analyses were gender, age, COVID-19 status, body mass index (BMI), sepsis-related organ failure (SOFA) score, renal replacement therapy (RRT) and extracorporeal membrane oxygenation (ECMO) requirement. Results: The mean Cmin of isavuconazole in all patients was 1.64 mu g/mL (interquartile range 0.83-2.24 mu g/mL, total range 0.24-5.67 mu g/mL). In total, 34.4% of the Cmin values (corresponding to 46.8% of patients) were below a threshold concentration of 1 mu g/mL. Drug concentrations between patients with or without COVID-19 did notdiffer (p =.43). In contrast, levels were significantly lower in patients with female sex (p =.0007), age = 65 years (p =.002), BMI > 25 (p =.006), SOFA score > 12 (p =.026), RRT (p =.017) and ECMO requirement (p =.001). Conclusions: Isavuconazole plasma levels can be negatively affected by patients' risk factors, supportive renal replacement and ECMO therapy. Future prospective studies analysing the relevance of isavuconazole drug levels in ICU patient outcome are urgently needed.

关键词： aspergillosis infection intensive care isavuconazole mucormycosis therapeutic drug monitoring

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Effect of gadget use on student eyes health during the Covid-19 pandemic

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AIP Conference Proceedings 2023年第1期2683卷

作者： Ari Dina Permana Citra Machbub Machbub Oktaviani Cahyaningsih Hargianti Dini Iswandari Rinayati Rinayati Purwanto Purwanto Study Program of Optometry Universitas Widya Husada Semarang Semarang Indonesia Study Program of Medical Informatics Universitas Widya Husada Semarang Semarang Indonesia Studi Program of Electronic Technology Universitas Widya Husada Semarang Semarang Indonesia Green Technology Research Center Doctorate Program of Environmental Science School of Postgraduate StudiesUniversitas Diponegoro Semarang Indonesia

The use of gadgets to support the learning process during this pandemic has become necessary, such as cellphones, tablets, laptops, and various other gadgets. The blue light on the gadget is one of the causes of asthenopia: tired eyes, symptoms of blurred vision, difficulty focusing, dry eyes, watery irritation, headaches, neck or back tension, and makes the mind tired quickly. This study aims to determine the impact of using gadgets on eye health and how to control it. The research design was cross-sectional in a purposive sample with a survey on 48 students of Universitas Widya Husada Semarang (UWHS) Semarang City Indonesia. Data was taken by surveying a sample of students who took part in online learning using gadgets in smartphones, laptops, and desktop computers. The greatest effect occurred in decreased visual acuity (76.7%) and the smallest on perceptual speed (37.5%). Negative effects were felt by students in the range of close to 50%, but a small number of students only felt effects with high severity. Measures to control the dangers of using gadgets are carried out by arranging gadget duration for learning purposes.

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Environmental management for small medium electroplating industry, A Cleaner production approach

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IOP Conference Series: Materials Science and Engineering 2021年第1期1053卷

作者： A D P Citra H D Iswandari P Purwanto Study Program of Optometry Universitas Widya Husada Semarang Semarang Indonesia Universitas Widya Husada Semarang Semarang Indonesia Department of Chemical Engineering Faculty of Engineering Universitas Diponegoro Semarang Indonesia

Small and medium scale electroplating industry produces a variety of plating products by using hazardous substances as raw materials. The production process at SMI electroplating held manually. Industrial environmental management is conducted by implementing clean production starting from waste prevention, reduction and recycling. Research is conducted in the field through observation and review of actions to reduce process failures and improve them. The success of implementing clean production as an environmental management effort can be extended to other SMIs.

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Concrete Brick Production Using a Mixture of Paint Waste by Solidification Process

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IOP Conference Series: Materials Science and Engineering 2021年第1期1053卷

作者： P Purwanto S Sudarno A D P Citra Green Technology Research Center School of Postgraduate Studies Universitas Diponegoro Semarang Indonesia Department of Chemical Engineering Faculty of Engineering Universitas Diponegoro Semarang Indonesia Department of Environmental Engineering Faculty of Engineering Universitas Diponegoro Semarang Indonesia Study Program of Optometry Universitas Widya Husada Semarang Semarang Indonesia

Unutilized hazardous and toxic waste requires management and landfill costs. Hazardous and toxic paint waste can be used as additional raw material to make brick products through solidification. Concrete bricks are made from a mixture of cement (1 part) and sand (14 parts) with the addition of water for mixing purpose. The mixture composition is 0,1,2,4,6, and 8% by using paint waste as the raw material added. Then, the quality of concrete brick products is tested on compressive strength and water permeability. The test results can be used as recommendations for the use of paint waste into products and reduce waste management costs.

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Global estimates on the number of people blind or visually impaired by Uncorrected Refractive Error: a meta-analysis from 2000 to 2020

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EYE 2024年第11期38卷 2083-2101页

作者： Little, Julie-Anne Congdon, Nathan G. Resnikoff, Serge Braithwaite, Tasanee Leasher, Janet Naidoo, Kovin Fricke, Tim Tapply, Ian Fernandes, Arthur G. Cicinelli, Maria Vittoria Arrigo, Alessandro Leveziel, Nicolas Taylor, Hugh R. Sedighi, Tabassom Flaxman, Seth Parodi, Maurizio Battaglia Bikbov, Mukkharram M. Bron, Alain Cheng, Ching-Yu Del Monte, Monte A. Ehrlich, Joshua R. Ellwein, Leon B. Friedman, David Furtado, Joao M. Gazzard, Gus George, Ronnie Hartnett, M. Elizabeth Jonas, Jost B. Kahloun, Rim Kempen, John H. Khairallah, Moncef Khanna, Rohit C. Kim, Judy E. Lansingh, Van Charles Nangia, Vinay Nowak, Michal Pesudovs, Konrad Peto, Tunde Ramulu, Pradeep Topouzis, Fotis Tsilimbaris, Mitiadis Wang, Ya Xing Wang, Ningli Bourne, Rupert R. A. Little, Julie-Anne Congdon, Nathan G. Resnikoff, Serge Braithwaite, Tasanee Leasher, Janet L. Naidoo, Kovin S. Tahhan, Nina Fricke, Timothy Tapply, Ian Fernandes, Arthur G. Cicinelli, Maria Vittoria Arrigo, Alessandro Leveziel, Nicolas Briant, Paul Svitil Vos, Theo Taylor, Hugh R. Sedighi, Tabassom Flaxman, Seth Abate, Yohannes Habtegiorgis Dolatabadi, Zahra Abbasi Abdelmasseh, Michael Abdollahi, Mohammad Abebe, Ayele Mamo Abiodun, Olumide Aboagye, Richard Gyan Abrha, Woldu Aberhe Ali, Hiwa Abubaker Abu-Gharbieh, Eman Aburuz, Salahdein Adal, Tadele Girum Girum Adamu, Lawan Hassan Adderley, Nicola J. Addo, Isaac Yeboah Adekiya, Tayo Alex Adhikari, Kishor Adnani, Qorinah Estiningtyas Sakilah Afzal, Saira Aghamiri, Shahin Agodi, Antonella Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Aqeel Ahmadzadeh, Hooman Ahmed, Ayman Ahmed, Haroon Alahdab, Fares Albashtawy, Mohammed AlBataineh, Mohammad T. Alemu, Tsegaye Alfaar, Ahmad Samir Alhalaiqa, Fadwa Alhalaiqa Naji Alhassan, Robert Kaba Ali, Abid Ali, Syed Shujait Shujait Almidani, Louay Alzoubi, Karem H. Androudi, Sofia Anguita, Rodrigo Anil, Abhishek Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Damelash Asgedom, Akeza Awealom Ashemo, Mubarek Yesse Ashraf, Tahira Athari, Seyyed Shamsadin Atinafu, Ulster Univ Biomed Sci Res Inst Coleraine BT52 1SA Londonderry North Ireland Queens Univ Belfast Belfast Antrim North Ireland Orbis Int New York NY USA Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Peoples R China Brien Holden Vis Inst Sydney NSW Australia Univ New South Wales Sch Optometry & Vis Sci Fac Med Sydney NSW Australia Kings Coll London Sch Life Course & Populat Sci London England Guys & St Thomas NHS Fdn Trust Med Eye Unit London England Nova Southeastern Univ Coll Optometry Ft Lauderdale FL USA Univ KwaZulu Natal UKZN African Vis Res Inst Durban South Africa Univ New South Wales Sch Optometry & Vis Sci Sydney NSW Australia Australian Coll Optometry Melbourne Vic Australia Univ Melbourne Melbourne Vic Australia UNSW Sydney Sydney NSW Australia Cambridge Univ Hosp Dept Ophthalmol Cambridge England Fed Univ Sao Paolo Sao Paulo SP Brazil Univ Calgary Calgary AB Canada Univ Vita Salute San Raffaele Sch Med Milan Italy IRCCS San Raffaele Sci Inst Dept Ophthalmol Milan Italy Univ Vita Salute San Raffaele Sci Inst Hosp San Raffaele Milan Italy Univ Poitiers Poitiers France CHU Poitiers Poitiers France Univ Melbourne Sch Populat & Global Hlth Carlton Vic Australia Anglia Ruskin Univ Vis & Eye Res Inst Cambridge England Univ Oxford Dept Comp Sci Oxford England Univ Vita Salute San Raffaele Dept Ophthalmol Milan Italy Ufa Eye Res Inst Ufa Russia Univ Hosp Dijon France Natl Univ Singapore Singapore Singapore Singapore Eye Res Inst Singapore Singapore Univ Michigan Singapore Singapore Kellogg Eye Ctr Ann Arbor MI 48105 USA Univ Michigan Inst Social Res Ann Arbor MI 48109 USA Univ Michigan Dept Ophthalmol & Visual Sci Ann Arbor MI 48109 USA NEI Bethesda MD 20892 USA Harvard Med Sch Mass Eye & Ear Boston MA 02115 USA Univ Sao Paulo Ribeirao Preto Med Sch Sao Paulo Brazil UCL Inst Ophthalmol Bethesda MD USA NIHR Biomed Res Ctr Bethesda MD USA Sankara Nethralaya Med Res Fdn Chennai 600006 Tamil Nadu I

BACKGROUND: Uncorrected refractive error (URE) is a readily treatable cause of visual impairment (VI). This study provides updated estimates of global and regional vision loss due to URE, presenting temporal change for VISION 2020 METHODS: Data from population-based eye disease surveys from 1980-2018 were collected. Hierarchical models estimated prevalence (95% uncertainty intervals [UI]) of blindness (presenting visual acuity (VA) < 3/60) and moderate-to-severe vision impairment (MSVI;3/60 <= presenting VA < 6/18) caused by URE, stratified by age, sex, region, and year. Near VI prevalence from uncorrected presbyopia was defined as presenting near VA < N6/N8 at 40 cm when best-corrected distance (VA >= 6/12). RESULTS: In 2020, 3.7 million people (95%UI 3.10-4.29) were blind and 157 million (140-176) had MSVI due to URE, a 21.8% increase in blindness and 72.0% increase in MSVI since 2000. Age-standardised prevalence of URE blindness and MSVI decreased by 30.5% (30.7-30.3) and 2.4% (2.6-2.2) respectively during this time. In 2020, South Asia GBD super-region had the highest 50.. years age-standardised URE blindness (0.33% (0.26-0.40%)) and MSVI (10.3% (8.82-12.10%)) rates. The age-standardized ratio of women to men for URE blindness was 1.05:1.00 in 2020 and 1.03:1.00 in 2000. An estimated 419 million (295-562) people 50..had near VI from uncorrected presbyopia, a.75.3% (74.6-76.0) increase from 2000 CONCLUSIONS: The number of cases of VI from URE substantively grew, even as age-standardised prevalence fell, since 2000, with a continued disproportionate burden by region and sex. Global population ageing will increase this burden, highlighting urgent need for novel approaches to refractive service delivery.

关键词： Epidemiology Public health

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Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020

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EYE 2024年第11期38卷 2156-2172页

作者： Pesudovs, Konrad Lansingh, Van Charles Kempen, John H. Tapply, Ian Fernandes, Arthur G. Cicinelli, Maria Vittoria Arrigo, Alessandro Leveziel, Nicolas Resnikoff, Serge Taylor, Hugh R. Sedighi, Tabassom Flaxman, Seth Bikbov, Mukkharram M. Braithwaite, Tasanee Bron, Alain Cheng, Ching-Yu Del Monte, Monte A. Ehrlich, Joshua R. Ellwein, Leon B. Friedman, David Furtado, Joao M. Gazzard, Gus George, Ronnie Hartnett, M. Elizabeth Jonas, Jost B. Kahloun, Rim Khairallah, Moncef Khanna, Rohit C. Leasher, Janet Little, Julie-Anne Nangia, Vinay Nowak, Michal Peto, Tunde Ramulu, Pradeep Topouzis, Fotis Tsilimbaris, Mitiadis Wang, Ya Xing Wang, Ningli Bourne, Rupert Briant, Paul Svitil Vos, Theo Abate, Yohannes Habtegiorgis Abdollahi, Mohammad Abdollahi, Mozhan Abebe, Ayele Mamo Abiodun, Olumide Aboagye, Richard Gyan Abrha, Woldu Aberhe Abualruz, Hasan Ali, Hiwa Abubaker Abu-Gharbieh, Eman Aburuz, Salahdein Adal, Tadele Girum Girum Adane, Mesafint Molla Addo, Isaac Yeboah Adnani, Qorinah Estiningtyas Sakilah Afzal, Muhammad Sohail Aghamiri, Shahin Ahinkorah, Bright Opoku Ahmad, Aqeel Ahmad, Sajjad Ahmadi, Ali Ahmed, Ayman Ahmed, Haroon Alfaar, Ahmad Samir Ali, Abid Ali, Syed Shujait Shujait Altaf, Awais Amu, Hubert Androudi, Sofia Anguita, Rodrigo Anil, Abhishek Anvari, Saeid Anyasodor, Anayochukwu Edward Appiah, Francis Arabloo, Jalal Arafat, Mosab Areda, Damelash Arefnezhad, Reza Aregawi, Brhane Berhe Asgedom, Akeza Awealom Ashraf, Tahira Athari, Seyyed Shamsadin Atinafu, Bantalem Tilaye Tilaye Atout, Maha Moh'd Wahbi Atreya, Alok Ayatollahi, Haleh Azzam, Ahmed Y. Babamohamadi, Hassan Bagherieh, Sara Bahurupi, Yogesh Baig, Atif Amin Banik, Biswajit Bardhan, Mainak Basu, Saurav Batra, Kavita Bayileyegn, Nebiyou Simegnew Bazvand, Fatemeh Beyene, Addisu Shunu Bhagat, Devidas S. Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhaskar, Sonu Bhatti, Jasvinder Singh Bikbov, Mukharram Bineshfar, Niloufar Birck, Marina G. Bitra, Veera R. Burkart, Katrin Bustanji, Yasser Butt, Zahid A. dos Santos, Florentino Luciano Caetano Alberto Ca Univ New South Wales Med & Hlth Sydney NSW Australia HelpMeSee Inst Mexicano Oftalmol Santiago De Queretaro Mexico Univ Miami Gables FL USA Univ Utah Salt Lake City UT USA Harvard Med Sch Dept Ophthalmol Massachusetts Eye & Ear Shepens Eye Res Inst Boston MA 02115 USA Comprehens Specialized Hosp Eye Unit MyungSung Christian Med Ctr MCM Addis Ababa Ethiopia MyungSun Med Coll Addis Ababa Ethiopia Addis Ababa Univ Dept Ophthalmol Addis Ababa Ethiopia Sight Souls Bellevue WA USA Addenbrookes Hosp Cambridge England Fed Univ Sao Paolo Sao Paulo SP Brazil Univ Calgary Calgary AB Canada Univ Vita Salute San Raffaele Sch Med Milan Italy IRCCS San Raffaele Sci Inst Dept Ophthalmol Milan Italy Univ Vita Salute San Raffaele IRCCS San Raffaele Sci Inst Milan Italy Univ Poitiers Poitiers France CHU Poitiers Poitiers France Brien Holden Vis Inst Sydney NSW Australia Univ New South Wales Sch Optometry & Vis Sci Fac Med Sydney NSW Australia Univ Melbourne Sch Populat & Global Hlth Carlton Vic Australia Anglia Ruskin Univ Vis & Eye Res Inst Cambridge England Univ Oxford Dept Comp Sci Oxford England Ufa Eye Res Inst Ufa Russia Kings Coll London Sch Life Course & Populat Sci London England Guys & St Thomas NHS Fdn Trust Med Eye Unit London England Univ Hosp Dijon France Natl Univ Singapore Singapore Singapore Singapore Eye Res Inst Singapore Singapore Univ Michigan Ann Arbor MI 48109 USA Kellogg Eye Ctr Ann Arbor MI USA Univ Michigan Inst Social Res Ann Arbor MI 48109 USA Univ Michigan Dept Ophthalmol & Visual Sci Ann Arbor MI 48109 USA NEI Bethesda MD 20892 USA Harvard Med Sch Mass Eye & Ear Boston MA 02115 USA Univ Sao Paulo Ribeirao Preto Med Sch Sao Paulo Brazil Inst Ophthalmol UCL London England NIHR Biomed Res Ctr London England Sankara Nethralaya Med Res Fdn Chennai 600006 Tamil Nadu India Stanford Univ Stanford CA 94305 USA Heidelberg Univ Med Fac Mannheim Dept Ophthalmol Heidelberg Germany Associated Ophthalmologi

BACKGROUND: To estimate global and regional trends from 2000 to 2020 of the number of persons visually impaired by cataract and their proportion of the total number of vision-impaired individuals. METHODS: A systematic review and meta-analysis of published population studies and gray literature from 2000 to 2020 was carried out to estimate global and regional trends. We developed prevalence estimates based on modeled distance visual impairment and blindness due to cataract, producing location-, year-, age-, and sex-specific estimates of moderate to severe vision impairment (MSVI presenting visual acuity <6/18, >= 3/60) and blindness (presenting visual acuity <3/60). Estimates are age-standardized using the GBD standard population. RESULTS: In 2020, among overall (all ages) 43.3 million blind and 295 million with MSVI, 17.0 million (39.6%) people were blind and 83.5 million (28.3%) had MSVI due to cataract blind 60% female, MSVI 59% female. From 1990 to 2020, the count of persons blind (MSVI) due to cataract increased by 29.7%(93.1%) whereas the age-standardized global prevalence of cataract-related blindness improved by -27.5% and MSVI increased by 7.2%. The contribution of cataract to the age-standardized prevalence of blindness exceeded the global figure only in South Asia (62.9%) and Southeast Asia and Oceania (47.9%). CONCLUSIONS: The number of people blind and with MSVI due to cataract has risen over the past 30 years, despite a decrease in the age-standardized prevalence of cataract. This indicates that cataract treatment programs have been beneficial, but population growth and aging have outpaced their impact. Growing numbers of cataract blind indicate that more, better-directed, resources are needed to increase global capacity for cataract surgery.

关键词： Epidemiology Lens diseases

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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

COMMUNICATIONS BIOLOGY

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COMMUNICATIONS BIOLOGY 2020年第1期3卷 133页

作者： Fan, Qiao Pozarickij, Alfred Tan, Nicholas Y. Q. Guo, Xiaobo Verhoeven, Virginie J. M. Vitart, Veronique Guggenheim, Jeremy A. Miyake, Masahiro Tideman, J. Willem L. Khawaja, Anthony P. Zhang, Liang MacGregor, Stuart Hoehn, Rene Chen, Peng Biino, Ginevra Wedenoja, Juho Saffari, Seyed Ehsan Tedja, Milly S. Xie, Jing Lanca, Carla Wang, Ya Xing Sahebjada, Srujana Mazur, Johanna Mirshahi, Alireza Martin, Nicholas G. Yazar, Seyhan Pennell, Craig E. Yap, Maurice Haarman, Annechien E. G. Enthoven, Clair A. Polling, JanRoelof Hewitt, Alex W. Jaddoe, Vincent W. V. van Duijn, Cornelia M. Hayward, Caroline Polasek, Ozren Tai, E-Shyong Yoshikatsu, Hosoda Hysi, Pirro G. Young, Terri L. Tsujikawa, Akitaka Wang, Jie Jing Mitchell, Paul Pfeiffer, Norbert Parssinen, Olavi Foster, Paul J. Fossarello, Maurizio Yip, Shea Ping Williams, Cathy Hammond, Christopher J. Jonas, Jost B. He, Mingguang Mackey, David A. Wong, Tien-Yin Klaver, Caroline C. W. Saw, Seang-Mei Baird, Paul N. Cheng, Ching-Yu Duke NUS Med Sch Ctr Quantitat Med 20 Coll Rd Singapore 169856 Singapore Duke NUS Med Sch Ophthalmol & Visual Sci Acad Clin Program Eye ACP Singapore Singapore Cardiff Univ Sch Optometry & Vis Sci Cardiff CF24 4HQ Wales Singapore Natl Eye Ctr Singapore Eye Res Inst Singapore Singapore Sun Yat Sen Univ Sch Math Dept Stat Sci Guangzhou Peoples R China Sun Yat Sen Univ Southern China Ctr Stat Sci Guangzhou Peoples R China Erasmus MC Dept Ophthalmol NL-3000 CA Rotterdam Netherlands Erasmus MC Dept Clin Genet Rotterdam Netherlands Univ Edinburgh Inst Genet & Mol Med Med Res Council Human Genet Unit Edinburgh EH4 2XU Midlothian Scotland Kyoto Univ Dept Ophthalmol & Visual Sci Kyoto 6068507 Japan Erasmus MC Dept Epidemiol NL-3000 CA Rotterdam Netherlands Moorfields Eye Hosp NHS Fdn Trust NIHR Biomed Res Ctr London EC1V 2PD England UCL Inst Ophthalmol London EC1V 2PD England Univ Cambridge Sch Clin Med Inst Publ Hlth Dept Publ Hlth & Primary Care Cambridge England Singapore Eye Res Inst Ocular Epidemiol Res Grp Singapore Singapore QIMR Berghofer Med Res Inst Brisbane Qld Australia Johannes Gutenberg Univ Mainz Univ Med Ctr Dept Ophthalmol D-55131 Mainz Germany Univ Bern Inselspital Dept Ophthalmol Univ Hosp Bern CH-3010 Bern Switzerland Natl Univ Singapore Natl Univ Hlth Syst Saw Swee Hock Sch Publ Hlth Singapore Singapore Natl Res Council Italy Inst Mol Genet I-27100 Pavia Italy Univ Helsinki Dept Ophthalmol FI-00290 Helsinki Finland Helsinki Univ Hosp FI-00290 Helsinki Finland Univ Helsinki Dept Publ Hlth FI-00290 Helsinki Finland Monash Univ Sch Publ Hlth & Preventat Med Occupat & Environm Hlth Sci Melbourne Vic 3004 Australia Univ Melbourne Royal Victorian Eye & Ear Hosp CERA Melbourne Vic 3002 Australia Singapore Eye Res Inst Myopia Res Grp Singapore Singapore Capital Med Univ Beijing Tongren Hosp Beijing Key Lab Ophthalmol & Visual Sci Beijing Inst OphthalmolBeijing Tongren Eye Ctr Beijing Peoples R China Univ Melbourne

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213);others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia. Qiao Fan et al. report a genome-wide association analysis of corneal curvature-an important measurement for identifying vision problems, such as myopia-in more than 45,000 individuals of either European or Asian ancestry. They identify 47 loci, 26 of which are novel, with some showing population-specific effects and pleiotropic effects on eye elongation and myopia.

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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

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AMERICAN JOURNAL OF HUMAN GENETICS 2022年第8期109卷 1366-1387页

作者： Ramdas, Shweta Judd, Jonathan Graham, Sarah E. Kanoni, Stavroula Wang, Yuxuan Surakka, Ida Wenz, Brandon Clarke, Shoa L. Chesi, Alessandra Wells, Andrew Bhatti, Konain Fatima Vedantam, Sailaja Winkler, Thomas W. Locke, Adam E. Marouli, Eirini Zajac, Greg J. M. Wu, Kuan-Han H. Ntalla, Ioanna Hui, Qin Klarin, Derek Hilliard, Austin T. Wang, Zeyuan Xue, Chao Thorleifsson, Gudmar Helgadottir, Anna Gudbjartsson, Daniel F. Holm, Hilma Olafsson, Isleifur Hwang, Mi Yeong Han, Sohee Akiyama, Masato Sakaue, Saori Terao, Chikashi Kanai, Masahiro Zhou, Wei Brumpton, Ben M. Rasheed, Humaira Havulinna, Aki S. Veturi, Yogasudha Pacheco, Jennifer Allen Rosenthal, Elisabeth A. Lingren, Todd Feng, QiPing Kullo, Iftikhar J. Narita, Akira Takayama, Jun Martin, Hilary C. Hunt, Karen A. Trivedi, Bhavi Haessler, Jeffrey Giulianini, Franco Bradford, Yuki Miller, Jason E. Campbell, Archie Lin, Kuang Millwood, Iona Y. Rasheed, Asif Hindy, George Faul, Jessica D. Zhao, Wei Weir, David R. Turman, Constance Huang, Hongyan Graff, Mariaelisa Choudhury, Ananyo Sengupta, Dhriti Mahajan, Anubha Brown, Michael R. Zhang, Weihua Yu, Ketian Schmidt, Ellen M. Pandit, Anita Gustafsson, Stefan Yin, Xianyong Luan, Jian'an Zhao, Jing-Hua Matsuda, Fumihiko Jang, Hye-Mi Yoon, Kyungheon Medina-Gomez, Carolina Pitsillides, Achilleas Hottenga, Jouke Jan Wood, Andrew R. Ji, Yingji Gao, Zishan Haworth, Simon Mitchell, Ruth E. Chai, Jin Fang Aadahl, Mette Bjerregaard, Anne A. Yao, Jie Manichaikul, Ani Lee, Wen-Jane Hsiung, Chao Agnes Warren, Helen R. Ramirez, Julia Bork-Jensen, Jette Karhus, Line L. Goel, Anuj Sabater-Lleal, Maria Noordam, Raymond Mauro, Pala Matteo, Floris McDaid, Aaron F. Marques-Vidal, Pedro Wielscher, Matthias Trompet, Stella Sattar, Naveed Mollehave, Line T. Munz, Matthias Zeng, Lingyao Huang, Jianfeng Yang, Bin Poveda, Alaitz Kurbasic, Azra Schonherr, Sebastian Forer, Lukas Scholz, Markus Galesloot, Tessel E. Bradfield, Jonathan P. Ruotsalainen, Sanni E. Daw, E. Warwick Zmuda, Joseph M. Mitchell, Jonathan S. Fuchsberger, Christian Christens Univ Penn Perelman Sch Med Dept Genet Philadelphia PA 19104 USA Stanford Univ Dept Genet Sch Med Stanford CA 94305 USA Univ Michigan Dept Internal Med Div Cardiol Ann Arbor MI 48109 USA Queen Mary Univ London John Vane Sci Ctr Barts & London Sch Med & Dent William Harvey Res Inst Charterhouse Sq London EC1M 6BQ England Boston Univ Dept Biostat Sch Publ Hlth 801 Massachusetts Ave Boston MA 02118 USA VA Palo Alto Hlth Care Syst Palo Alto CA 94304 USA Stanford Univ Dept Med Div Cardiovasc Med Sch Med Stanford CA 94305 USA Univ Penn Dept Pathol & Lab Med Philadelphia PA USA Boston Childrens Hosp Endocrinol Boston MA 02115 USA Broad Inst Harvard & MIT Program Med & Populat Genet 75 Ames St Cambridge MA 02142 USA Univ Regensburg Dept Genet Epidemiol Regensburg Germany Washington Univ McDonnell Genome Inst St Louis MO 63108 USA Washington Univ Dept Med St Louis MO 63108 USA Univ Michigan Dept Biostat Ctr Stat Genet Ann Arbor MI 48109 USA Univ Michigan Dept Computat Med & Bioinformat Ann Arbor MI 48109 USA Queen Mary Univ London Barts & London Sch Med & Dent William Harvey Res Inst London EC1M 6BQ England Emory Univ Dept Epidemiol Rollins Sch Publ Hlth Atlanta GA USA Atlanta VA Hlth Care Syst Decatur GA USA Malcolm Randall VA Med Ctr Gainesville FL USA Univ Florida Coll Med Div Vasc Surg & Endovasc Therapy Gainesville FL USA Amgen Inc deCODE Genet Sturlugata 8 IS-102 Reykjavik Iceland Univ Iceland Sch Engn & Nat Sci IS-102 Reykjavik Iceland Landspitali Natl Univ Hosp Iceland Dept Clin Biochem IS-101 Reykjavik Iceland Natl Inst Hlth Dept Precis Med Div Genome Sci Chungbuk South Korea RIKEN Ctr Integrat Med Sci Lab Stat Anal Yokohama Kanagawa Japan Kyushu Univ Grad Sch Med Sci Dept Ophthalmol Fukuoka Japan Osaka Univ Dept Stat Genet Grad Sch Med Osaka Japan Univ Tokyo Lab Stat Anal RIKEN Ctr Integrat Med Sci Tokyo Japan Univ Tokyo Grad Sch Med Dept Allergy & Rheumatol Tokyo Japan RIKEN Ctr Integrat Med Sci Lab Stat &

A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expression quantitative trait locus (eQTL) colocalizations and then add chromatin interaction data to narrow the search for functional genes. Polygenic enrichment analysis across 697 annotations from a host of tissues and cell types confirms the central role of the liver in lipid levels and highlights the selective enrichment of adipose-specific chromatin marks in high-density lipoprotein cholesterol and triglycerides. Overlapping transcription factor (TF) binding sites with lipid-associated loci identifies TFs relevant in lipid biology. In addition, we present an integrative framework to prioritize causal variants at GWAS loci, producing a comprehensive list of candidate causal genes and variants with multiple layers of functional evidence. We highlight two of the prioritized genes, CREBRF and RRBP1, which show convergent evidence across functional datasets supporting their roles in lipid biology.

关键词： lipid biology fine-mapping functional genomics post-GWAS regulatory mechanism complex traits variant prioritization

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