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Influence of Magnetic Fields on Electrochemical Reactions of Redox Cofactor Solutions

Angewandte Chemie 2021年第33期133卷

作者： Jimin Park Florian Koehler Georgios Varnavides Marc-Joseph Antonini Prof. Dr. Polina Anikeeva Department of Materials Science and Engineering Massachusetts Institute of Technology Cambridge MA 02139 USA Research Laboratory of Electronics and McGovern Institute for Brain Research Massachusetts Institute of Technology Cambridge MA 02139 USA Department of Electrical Engineering and Computer Science Massachusetts Institute of Technology Cambridge MA 02139 USA Harvard/MIT Health Science & Technology Graduate Program Cambridge MA 02139 USA Department of Brain and Cognitive Sciences Massachusetts Institute of Technology Cambridge MA 02139 USA

Redox cofactors mediate many enzymatic processes and are increasingly employed in biomedical and energy applications. Exploring the influence of external magnetic fields on redox cofactor chemistry can enhance our understanding of magnetic-field-sensitive biological processes and allow the application of magnetic fields to modulate redox reactions involving cofactors. Through a combination of experiments and modeling, we investigate the influence of magnetic fields on electrochemical reactions in redox cofactor solutions. By employing flavin mononucleotide (FMN) cofactor as a model system, we characterize magnetically induced changes in Faradaic currents. We find that radical pair intermediates have negligible influence on current increases in FMN solution upon application of a magnetic field. The dominant mechanism underlying the observed current increases is the magneto-hydrodynamic effect. We extend our analyses to other diffusion-limited electrochemical reactions of redox cofactor solutions and arrive at similar conclusions, highlighting the opportunity to use this framework in redox cofactor chemistry.

关键词： electrochemistry magnetic field effects magneto-hydrodynamic effect radicals redox cofactors

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Smoking and Risk of Colorectal Cancer Sub-classified by Tumor-infiltrating T Cells (vol 111, pg 42, 2019)

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JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE 2019年第12期111卷 1365-1365页

作者： Hamada, Tsuyoshi Department of Oncologic Pathology Department of Medical Oncology Dana-Farber Cancer Institute and Harvard Medical School Boston MAProgram in Molecular Pathological Epidemiology Department of Pathology Department of Oncologic Pathology Clinical and Translational Epidemiology Unit and Division of Gastroenterology Massachusetts General Hospital and Harvard Medical School Boston MA Clinical and Translational Epidemiology Unit and Division of Gastroenterology Massachusetts General Hospital and Harvard Medical School Boston MADepartment of Nutrition Clinical and Translational Epidemiology Unit and Division of Gastroenterology Massachusetts General Hospital and Harvard Medical School Boston MADepartment of NutritionDivision of Public Health Sciences Department of Surgery Washington University School of Medicine St. Louis MO Department of Oncologic Pathology Department of Medical Oncology Dana-Farber Cancer Institute and Harvard Medical School Boston MA Department of Oncologic Pathology Department of Oncologic PathologyDepartment of NutritionDivision of Public Health Sciences Department of Surgery Washington University School of Medicine St. Louis MODepartment of Epidemiology and Biostatistics and the Ministry of Education Key Lab of Environment and Health School of Public Health Huazhong University of Science and Technology Hubei P.R. China Department of Oncologic PathologyDepartment of Medical Oncology Chinese PLA General Hospital Beijing P.R. China Department of Oncologic Pathology Department of Oncologic PathologyCollege of Pharmacy Zhejiang Chinese Medical University Zhejiang P.R. China Department of Oncologic Pathology Department of Gastroenterology Rheumatology and Clinical Immunology Sapporo Medical University School of Medicine Sapporo Japan Department of NutritionDepartment of Food Science and Biotechnology Dongguk University Goyang the Republic of Korea Department of Medical Oncology Dana-Farber Cancer Institute and Harvard Medical School Boston MADepartment of

BackgroundEvidence indicates not only carcinogenic effect of cigarette smoking but also its immunosuppressive effect. We hypothesized that the association of smoking with colorectal cancer risk might be stronger for tumors with lower anti-tumor adaptive immune *** follow-up of 134 981 participants (3 490 851 person-years) in the Nurses’ health Study and health Professionals Follow-up Study, we documented 729 rectal and colon cancer cases with available data on T-cell densities in tumor microenvironment. Using the duplication-method Cox regression model, we examined a differential association of smoking status with risk of colorectal carcinoma subclassified by densities of CD3⁺ cells, CD8⁺ cells, CD45RO (PTPRC)⁺ cells, or FOXP3⁺ cells. All statistical tests were *** association of smoking status with colorectal cancer risk differed by CD3⁺ cell density (P_{heterogeneity} = .007). Compared with never smokers, multivariable-adjusted hazard ratios for CD3⁺ cell-low colorectal cancer were 1.38 (95% confidence interval = 1.09 to 1.75) in former smokers and 1.59 (95% confidence interval = 1.14 to 2.23) in current smokers (P_trend = .002, across smoking status categories). In contrast, smoking status was not associated with CD3⁺ cell-high cancer risk (P_trend = .52). This differential association appeared consistent in strata of microsatellite instability, CpG island methylator phenotype, or BRAF mutation status. There was no statistically significant differential association according to densities of CD8⁺ cells, CD45RO⁺ cells, or FOXP3⁺ cells (P_{heterogeneity} > .04, with adjusted α of 0.01).ConclusionsColorectal cancer risk increased by smoking was stronger for tumors with lower T-lymphocyte response, suggesting an interplay of smoking and immunity in colorectal carcinogenesis.

关键词： Association (Psychology) cancer risk Smoking Colorectal Cancer Cancer of Colon Cigarette Smoking Immunosuppression (Physiology) Adaptive Immune Response Tumours T-Lymphocytes cigarette smoke

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FinnGen provides genetic insights from a well-phenotyped isolated population (vol 613, pg 508, 2023)

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NATURE 2023年第7952期615卷 E19-E19页

作者： Kurki, mitja I. Karjalainen, Juha Palta, Priit Sipila, Timo P. Kristiansson, Kati Donner, Kati M. Reeve, Mary P. Laivuori, Hannele Aavikko, Mervi Kaunisto, Mari A. Loukola, Anu Lahtela, Elisa Mattsson, Hannele Laiho, Paivi Parolo, Pietro Della Briotta Lehisto, Arto A. Kanai, Masahiro Mars, Nina Ramo, Joel Kiiskinen, Tuomo Heyne, Henrike O. Veerapen, Kumar Rueger, Sina Lemmela, Susanna Zhou, Wei Ruotsalainen, Sanni Parn, Kalle Hiekkalinna, Tero Koskelainen, Sami Paajanen, Teemu Llorens, Vincent Gracia-Tabuenca, Javier Siirtola, Harri Reis, Kadri Elnahas, Abdelrahman G. Sun, Benjamin Foley, Christopher N. Aalto-Setala, Katriina Alasoo, Kaur Arvas, Mikko Auro, Kirsi Biswas, Shameek Bizaki-Vallaskangas, Argyro Carpen, Olli Chen, Chia-Yen Dada, Oluwaseun A. Ding, Zhihao Ehm, Margaret G. Eklund, Kari Farkkila, Martti Finucane, Hilary Ganna, Andrea Ghazal, Awaisa Graham, Robert R. Green, Eric M. Hakanen, Antti Hautalahti, Marco Hedman, Asa K. Hiltunen, Mikko Hinttala, Reetta Hovatta, Iiris Hu, Xinli Huertas-Vazquez, Adriana Huilaja, Laura Hunkapiller, Julie Jacob, Howard Jensen, Jan-Nygaard Joensuu, Heikki John, Sally Julkunen, Valtteri Jung, Marc Junttila, Juhani Kaarniranta, Kai Kahonen, Mika Kajanne, Risto Kallio, Lila Kalviainen, Reetta Kaprio, Jaakko Kerimov, Nurlan Kettunen, Johannes Kilpelainen, Elina Kilpi, Terhi Klinger, Katherine Kosma, Veli-Matti Kuopio, Teijo Kurra, Venla Laisk, Triin Laukkanen, Jari Lawless, Nathan Liu, Aoxing Longerich, Simonne Magi, Reedik Makela, Johanna Makitie, Antti Malarstig, Anders Mannermaa, Arto Maranville, Joseph Matakidou, Athena Meretoja, Tuomo Mozaffari, Sahar V. Niemi, Mari E. K. Niemi, Marianna Niiranen, Teemu O'Donnell, Christopher J. Obeidat, Ma'En Okafo, George Ollila, Hanna M. Palomaki, Antti Palotie, Tuula Partanen, Jukka Paul, Dirk S. Pelkonen, Margit Pendergrass, Rion K. Petrovski, Slave Pitkaranta, Anne Platt, Adam Pulford, David Punkka, Eero Pussinen, Pirkko Raghavan, Neha Rahimov, Fedik Rajpal, Deepak Renaud, Nicole A. Riley-Gillis, Bridget Rodosthenous, Rodostheni Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Medical and Clinical Genetics University of Helsinki and Helsinki University Hospital Helsinki Finland Department of Obstetrics and Gynecology Tampere University Hospital Tampere Finland Faculty of Medicine and Health Technology Center for Child Adolescent and Maternal Health University of Tampere Tampere Finland Department of Biomedical Informatics Harvard Medical School Boston MA USA Digital Health Center Hasso Plattner Institute for Digital Engineering University of Potsdam Potsdam Potsdam Germany Hasso Plattner Institute for Digital Health at Mount Sinai Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA Finnish Institute for Health and Welfare (THL) Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Anesthesia Critical Care and Pain Medicine Massachusetts General Hospital Boston MA USA Abdominal Center Endocrinology Helsinki University Hospital Helsinki Finland Folkhalsan Research Center Helsinki Finland Research Program of Clinical and Molecular Metabolism University of Helsinki Helsinki Finland Biocenter Oulu University of Oulu Oulu Finland Computational Medicine Center for Life Course Health Research Faculty of Medicine University of Oulu Oulu Finland Turku University Hospital and University of Turku Turku Finland University of Turku Turku Finland Helsinki Biobank University of Helsinki and Hospital District of Helsinki and Uusimaa Helsinki Finland TAUCHI Research Center

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A Distinctive Platform System to Study the Effects of a Vestibular Prosthesis on Nonhuman Primate Postural Control

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Journal of Engineering and Science in Medical Diagnostics and Therapy 2018年第2期1卷 021004页

作者： Thompson, Lara A. Haburcakova, Csilla Lewis, Richard F. Mem. ASME Biomedical Engineering Program Department of Mechanical Engineering School of Engineering and Applied Sciences 4200 Connecticut Avenue NW WashingtonDC20008 United States University of the District of Columbia Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology 77 Massachusetts Avenue CambridgeMA02138 United States Jenks Vestibular Physiology Laboratory Massachusetts Eye and Ear Infirmary BostonMA02139 United States Departments of Otology and Laryngology and Neurology Harvard Medical School BostonMA02139 United States

The purpose of this paper is to describe novel experiments and methodologies utilizing a distinctive balance platform system to investigate postural responses for moderate to severe vestibular loss and invasive vestibular prosthesis-assisted nonhuman primates (rhesus monkeys). For several millions of vestibular loss sufferers in the U.S., daily living is severely affected in that common everyday tasks, such as getting out of bed at night, maintaining balance on a moving bus, or walking on an uneven surface, may cause a loss of stability leading to falls and injury. Aside from loss of balance, blurred vision and vertigo (perceived spinning sensation) are also debilitating in vestibular-impaired individuals. Although the need for vestibular rehabilitative solutions is apparent, postural responses for a broad range of peripheral vestibular function, and for various stationary and moving support conditions, have not been systematically investigated. For the investigation of implants and prostheses that are being developed toward implementation in humans, nonhuman primates are a key component. The measurement system used in this research was unique. Our platform system facilitated the study of rhesus monkey posture for stationary support surface conditions (quiet stance and head turns) and for dynamic support surface conditions (pseudorandom roll tilts of the support surface). Further, the platform system was used to systematically study postural responses that will serve as baseline measures for future vestibular-focused human and nonhuman primate posture studies. © 2018 by ASME.

关键词： Prosthetics

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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Universal research index: An inclusive metric to quantify scientific research output

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Journal of Academic Librarianship 2023年第3期49卷

作者： Keshavarz-Fathi, Mahsa Yazdanpanah, Niloufar Kolahchi, Sajad Ziaei, Heliya Darmstadt, Gary L. Dorigo, Tommaso Dochy, Filip Levin, Lisa Thongboonkerd, Visith Ogino, Shuji Chen, Wei-Hsin Perc, Matjaz Tremblay, Mark S. Olusanya, Bolajoko O. Rao, Idupulapati M. Hatziargyriou, Nikos Moradi-Lakeh, Maziar Bella, Federico Rosivall, Laszlo Gandomi, Amir H. Sorooshian, Armin Gupta, Manoj Gal, Ciprian Lozano, Andres M. Weaver, Connie Tanzer, Michael Poggi, Alessandro Sepanlou, Sadaf G. Weiskirchen, Ralf Jambrak, Anet Režek Torres, Pedro J. Capanoglu, Esra Barba, Francisco J. Ernest, Chua Kian Jon Sigman, Mariano Pluchino, Stefano Gharehpetian, Gevork B. Fereshtehnejad, Seyed-Mohammad Yang, Muh-Hwa Thomas, Sabu Cai, Wenju Comini, Elisabetta Scolding, Neil J. Myles, Paul S. Nieto, Juan J. Perry, George Sedikides, Constantine Rezaei, Nima School of Medicine Tehran University of Medical Sciences Tehran Iran Universal Scientific Education and Research Network (USERN) Iran Department of Pediatrics Stanford University School of Medicine Stanford CA United States Istituto Nazionale di Fisica Nucleare (INFN) Via Francesco Marzolo Sezione di Padova Italy High Impact Learning Academy Learning and Development Department Brussels Belgium Center for Marine Biodiversity and Conservation Integrative Oceanography Division Scripps Institution of Oceanography University of California San Diego San Diego CA United States Medical Proteomics Unit Office for Research and Development Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand Department of Epidemiology Harvard T.H. Chan School of Public Health Boston MA United States Program in MPE Molecular Pathological Epidemiology Department of Pathology Brigham and Women's Hospital and Harvard Medical School Boston MA United States Broad Institute of MIT and Harvard Cambridge MA United States Department of Aeronautics and Astronautics National Cheng Kung University Tainan Taiwan Research Center for Smart Sustainable Circular Economy Tunghai University Taichung 407 Taiwan Department of Mechanical Engineering National Chin-Yi University of Technology Taichung 411 Taiwan Faculty of Natural Sciences and Mathematics University of Maribor Maribor Slovenia Department of Medical Research China Medical University Hospital China Medical University Taichung Taiwan Complexity Science Hub Vienna Vienna Austria Alma Mater Europaea Maribor Slovenia Children's Hospital of Eastern Ontario Research Institute Department of Pediatrics University of Ottawa Ottawa ON Canada Centre for Healthy Start Initiative Ikoyi Lagos Nigeria Alliance of Bioversity International International Center for Tropical Agriculture Cali Colombia International Centre of Insect Physiology and Ecology (ICIPE) Nairobi Kenya School of Electrical and Computer Engineering Natio

Scientometrics and bibliometrics, the subfields of library and information science, deal with the quantity and quality of research outputs. Currently, various scientometric indices are being used to quantify and compare research outputs. The most widely known is the h-index. However, this index and its derivatives suffer from dependence on the mere count of a scholar's highly cited publications. To remedy this deficiency, we developed a novel index, the Universal Research Index (UR-Index) (https://***/UR-Index/) by which every single publication has its own impact on the total score. We developed this index by surveying international top 1 % cited scientists in various disciplines and included additional component variables such as publication type, leading role of a scholar, co-author count, and source metrics to this scientometric index. We acknowledge that unconscious biases built into the component variables included in the UR-Index might put research from specific groups at a disadvantage, thus continued efforts to improve equitable scholarly impact in science and academia are encouraged. © 2023 Elsevier Inc.

关键词： Citations CiteScore h-index Impact factor Leading author Research impact Scholarly impact Scholarly output Scientometrics UR-Index USERN

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Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

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Nature Genetics 2025年 1-13页

作者： Strom, Nora I. Gerring, Zachary F. Galimberti, Marco Yu, Dongmei Halvorsen, Matthew W. Abdellaoui, Abdel Rodriguez-Fontenla, Cristina Sealock, Julia M. Bigdeli, Tim Coleman, Jonathan R. Mahjani, Behrang Thorp, Jackson G. Bey, Katharina Burton, Christie L. Luykx, Jurjen J. Zai, Gwyneth Alemany, Silvia Andre, Christine Askland, Kathleen D. Bäckman, Julia Banaj, Nerisa Barlassina, Cristina Nissen, Judith Becker Bienvenu, O. Joseph Black, Donald Bloch, Michael H. Børte, Sigrid Bosch, Rosa Breen, Michael Brennan, Brian P. Brentani, Helena Buxbaum, Joseph D. Bybjerg-Grauholm, Jonas Byrne, Enda M. Cabana-Dominguez, Judit Camarena, Beatriz Camarena, Adrian Cappi, Carolina Carracedo, Angel Casas, Miguel Cavallini, Maria Cristina Ciullo, Valentina Cook, Edwin H. Crosby, Jesse Cullen, Bernadette A. De Schipper, Elles J. Delorme, Richard Djurovic, Srdjan Elias, Jason A. Estivill, Xavier Falkenstein, Martha J. Fundin, Bengt T. Garner, Lauryn Gironda, Christina Goes, Fernando S. Grados, Marco A. Grove, Jakob Guo, Wei Haavik, Jan Hagen, Kristen Harrington, Kelly Havdahl, Alexandra Höffler, Kira D. Hounie, Ana G. Hucks, Donald Hultman, Christina Janecka, Magdalena Jenike, Eric Karlsson, Elinor K. Kelley, Kara Klawohn, Julia Krasnow, Janice E. Krebs, Kristi Lange, Christoph Lanzagorta, Nuria Levey, Daniel Lindblad-Toh, Kerstin Macciardi, Fabio Maher, Brion Mathes, Brittany McArthur, Evonne McGregor, Nathaniel McLaughlin, Nicole C. Meier, Sandra Miguel, Euripedes C. Mulhern, Maureen Nestadt, Paul S. Nurmi, Erika L. O’Connell, Kevin S. Osiecki, Lisa Ousdal, Olga Therese Palviainen, Teemu Pedersen, Nancy L. Piras, Federica Potluri, Sriramya Rabionet, Raquel Ramirez, Alfredo Rauch, Scott Reichenberg, Abraham Riddle, Mark A. Ripke, Stephan Rosário, Maria C. Sampaio, Aline S. Schiele, Miriam A. Skogholt, Anne Heidi Sloofman, Laura G. Smit, Jan Artigas, María Soler Thomas, Laurent F. Tifft, Eric Vallada, Homero van Kirk, Nathanial Veenstra-VanderWeele, Jeremy Vulink, Nienke N. Walker, Christopher P. Wang, Ying Wendland, Jens R. Winsvold Department of Psychology Humboldt-Universität zu Berlin Berlin Germany Department of Psychiatric Phenomics and Genomics (IPPG) Ludwig-Maximilians University Munich Munich Germany Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet and Stockholm Health Services Region Stockholm Stockholm Sweden Department of Biomedicine Aarhus University Aarhus Denmark University Hospital of Psychiatry and Psychotherapy University of Bern Bern Switzerland Department of Mental Health and Neuroscience Translational Neurogenomics QIMR Berghofer Medical Research Institute Brisbane QLD Australia Department of Population Health and Immunity Healthy Development and Ageing Walter and Eliza Hall Institute of Medical Research Melbourne VIC Australia Department of Psychiatry Human Genetics Yale University New Haven CT United States VA Connecticut Healthcare System West Haven CT United States Department of Center for Genomic Medicine Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston MA United States Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA United States Department of Genetics University of North Carolina at Chapel Hill Chapel Hill NC United States Department of Psychiatry Amsterdam University Medical Centers University of Amsterdam Amsterdam Netherlands Center for Research in Molecular Medicine and Chronic Diseases (CiMUS) Genomics and Bioinformatics University of Santiago de Compostela Santiago de Compostela Spain Grupo de Medicina Xenómica Genetics Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS) Santiago de Compostela Spain Vanderbilt Genetics Institute Vanderbilt University Nashville TN United States Department of Psychiatry and Behavioral Sciences SUNY Downstate Health Sciences University Brooklyn NY United States VA NY Harbor Healthcare System Brooklyn NY United States Social Genetic and Developmental Psychiatry Centre Insti

Obsessive–compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along with D₁ and D₂ type dopamine receptor-containing medium spiny neurons. OCD genetic risk was shared with 65 of 112 additional phenotypes, including all the psychiatric disorders we examined. In particular, OCD shared genetic risk with anxiety, depression, anorexia nervosa and Tourette syndrome and was negatively associated with inflammatory bowel diseases, educational attainment and body mass index. © The Author(s) 2025.

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Corrigendum to “Cell cycle dysregulation in cancer” [ Pharmacological Reviews 77 (2025) 100030]

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Pharmacological Reviews 2025年第3期77卷

作者： Antonino Glaviano Samarendra K. Singh E. Hui Clarissa Lee Elena Okina Hiu Yan Lam Daniela Carbone E. Premkumar Reddy Mark J. O’Connor Andrew Koff Garima Singh Justin Stebbing Gautam Sethi Karen Carmelina Crasta Patrizia Diana Khandan Keyomarsi Michael B. Yaffe Seth A. Wander Aditya Bardia Alan Prem Kumar Department of Biological Chemical and Pharmaceutical Sciences and Technologies University of Palermo Palermo Italy School of Biotechnology Institute of Sciences Banaras Hindu University Varanasi Uttar Pradesh India Department of Pharmacology Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore NUS Center for Cancer Research Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore Department of Oncological Sciences Icahn School of Medicine at Mount Sinai New York New York Discovery Centre AstraZeneca Cambridge United Kingdom Memorial Sloan Kettering Cancer Center New York New York Division of Cancer Imperial College London Hammersmith Campus London United Kingdom Healthy Longevity Translational Research Program Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore Department of Physiology Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore Centre for Healthy Longevity National University Health System Singapore Singapore Department of Experimental Radiation Oncology The University of Texas MD Anderson Cancer Center Houston Texas MIT Center for Precision Cancer Medicine Koch Institute for Integrative Cancer Research Broad Institute Massachusetts Institute of Technology Cambridge Boston Massachusetts Massachusetts General Hospital Harvard Medical School Boston Massachusetts

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3D Printed frames to enable reuse and improve the fit of N95 and KN95 respirators

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BMC biomedical engineering 2021年第1期3卷 10页

作者： Malia McAvoy Ai-Tram N Bui Christopher Hansen Deborah Plana Jordan T Said Zizi Yu Helen Yang Jacob Freake Christopher Van David Krikorian Avilash Cramer Leanne Smith Liwei Jiang Karen J Lee Sara J Li Brandon Beller Kimberley Huggins Michael P Short Sherry H Yu Arash Mostaghimi Peter K Sorger Nicole R LeBoeuf Greater Boston Pandemic Fabrication Team (PanFab) c/o Harvard-MIT Center for Regulatory Science Harvard Medical School Boston MA USA. Department of Neurosurgery University of Washington Seattle WA USA. Harvard Medical School Boston MA USA. Harvard Graduate School of Design Cambridge MA USA. Harvard-MIT Division of Health Sciences and Technology Cambridge MA USA. Department of Systems Biology Harvard Ludwig Cancer Research Center Harvard Medical School Boston MA USA. Harvard-MIT Center for Regulatory Science Harvard Medical School Boston MA USA. Fikst Product Development Woburn MA USA. Borobot Middleborough MA USA. Dana-Farber Cancer Institute MA Boston USA. Department of Radiology Brigham and Women's Hospital Boston MA USA. Department of Dermatology Brigham and Women's Hospital Boston MA USA. Engineering Science at Norwalk Community College Norwalk CT USA. Department of Nuclear Science and Engineering Massachusetts Institute of Technology Cambridge MA USA. Department of Dermatology Yale University School of Medicine New Haven CT USA. Greater Boston Pandemic Fabrication Team (PanFab) c/o Harvard-MIT Center for Regulatory Science Harvard Medical School Boston MA USA. peter_sorger@hms.harvard.edu. Department of Systems Biology Harvard Ludwig Cancer Research Center Harvard Medical School Boston MA USA. peter_sorger@hms.harvard.edu. Harvard Program in Therapeutic Science Harvard Medical School Boston MA USA. peter_sorger@hms.harvard.edu. Greater Boston Pandemic Fabrication Team (PanFab) c/o Harvard-MIT Center for Regulatory Science Harvard Medical School Boston MA USA. nleboeuf@bwh.harvard.edu. Harvard Medical School Boston MA USA. nleboeuf@bwh.harvard.edu. Dana-Farber Cancer Institute MA Boston USA. nleboeuf@bwh.harvard.edu. Department of Dermatology Brigham and Women's Hospital Boston MA USA. nleboeuf@bwh.harvard.edu.

BACKGROUND:In response to supply shortages caused by the COVID-19 pandemic, N95 filtering facepiece respirators (FFRs or "masks"), which are typically single-use devices in healthcare settings, are routinely being used for prolonged periods and in some cases decontaminated under "reuse" and "extended use" policies. However, the reusability of N95 masks is limited by degradation of fit. Possible substitutes, such as KN95 masks meeting Chinese standards, frequently fail fit testing even when new. The purpose of this study was to develop an inexpensive frame for damaged and poorly fitting masks using readily available materials and 3D printing. RESULTS:An iterative design process yielded a mask frame consisting of two 3D printed side pieces, malleable wire links that users press against their face, and cut lengths of elastic material that go around the head to hold the frame and mask in place. Volunteers (n = 45; average BMI = 25.4), underwent qualitative fit testing with and without mask frames wearing one or more of four different brands of FFRs conforming to US N95 or Chinese KN95 standards. Masks passed qualitative fit testing in the absence of a frame at rates varying from 48 to 94 % (depending on mask model). For individuals who underwent testing using respirators with broken or defective straps, 80-100 % (average 85 %) passed fit testing with mask frames. Among individuals who failed fit testing with a KN95, ~ 50 % passed testing by using a frame. CONCLUSIONS:Our study suggests that mask frames can prolong the lifespan of N95 and KN95 masks by serving as a substitute for broken or defective bands without adversely affecting fit. Use of frames made it possible for ~ 73 % of the test population to achieve a good fit based on qualitative and quantitative testing criteria, approaching the 85-90 % success rate observed for intact N95 masks. Frames therefore represent a simple and inexpensive way of expanding access to PPE and extending their useful life. For clinicia

关键词： 3D printing COVID-19 KN95 masks N95 respirators filtering face piece (FFP) respirator mask frames occupational health pandemic response personal protective equipment (PPE) prototyping

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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system (vol 74, pg 879, 2020)

引用

GENETICS IN MEDICINE 2020年第2期22卷 449-449页

作者： Mandl, Kenneth D. Glauser, Tracy Krantz, Ian D. Avillach, Paul Bartels, Anna Beggs, Alan H. Biswas, Sawona Bourgeois, Florence T. Corsmo, Jeremy Dauber, Andrew Devkota, Batsal Fleisher, Gary R. Heath, Allison P. Helbig, Ingo Hirschhorn, Joel N. Kilbourn, Judson Kong, Sek Won Kornetsky, Susan Majzoub, Joseph A. Marsolo, Keith Martin, Lisa J. Nix, Jeremy Schwarzhoff, Amy Stedman, Jason Strauss, Arnold Sund, Kristen L. Taylor, Deanne M. White, Peter S. Marsh, Eric Grimberg, Adda Hawkes, Colin Computational Health Informatics Program Boston Children’s Hospital Boston MA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Division of Neurology Cincinnati Children’s Hospital Medical Center Cincinnati OH USA Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA Division of Human Genetics at the Children’s Hospital of Philadelphia Philadelphia PA USA Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA Cincinnati Children’s Hospital Medical Center Cincinnati OH USA The Manton Center for Orphan Disease Research Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Boston Children’s Hospital Boston MA USA Office of Research Compliance and Regulatory Affairs Cincinnati Children’s Hospital Medical Center Cincinnati OH USA Division of Endocrinology Children’s National Health System Washington DC USA Center for Data-Driven Discovery in Biomedicine The Children’s Hospital of Philadelphia Philadelphia PA USA Department of Biomedical and Health Informatics The Children’s Hospital of Philadelphia Philadelphia PA USA Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA Division of Endocrinology Boston Children’s Hospital Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Research Administration Boston Children’s Hospital Boston MA USA Department of Population Health Sciences Duke University School of Medicine Durham NC USA Division of Human Genetics Cincinnati Children’s Hospital Medical Center Cincinnati OH USA Division of Biomedical Informatics Cincinnati Children’s Hospital Medical Center Cincinnati OH USA Department of Biomedical Informatics University of Cincinnati College of Medicine Cincinnati OH USA Children’s Hospital of Philadelphia Philadelphia PA USA Division o

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

关键词： genomic medicine federated networks electronic health records biobanking information technology

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