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1. LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

Author

Chettle, James, Louie, Raymond, Larner, Olivia, Best, Robert, Chen, Kevin, Morris, Josephine, Dedeic, Zinaida, Childers, Anna, Rogers, R, DuPont, Barbara, Skinner, Cindy, Küry, Sébastien, Uguen, Kevin, Planes, Marc, Monteil, Danielle, Li, Megan, Eliyahu, Aviva, Greenbaum, Lior, Mor, Nofar, Besnard, Thomas, Isidor, Bertrand, Cogné, Benjamin, Blesson, Alyssa, Comi, Anne, Wentzensen, Ingrid, Vuocolo, Blake, Lalani, Seema, Sierra, Roberta, Berry, Lori, Carter, Kent, Sanders, Stephan, and Blagden, Sarah

Subjects
ASD, LARP1, NDD, RBP, RNA binding protein, autism, metabolism, neurodevelopmental, plasticity, proband, Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Autism Spectrum Disorder, Haploinsufficiency, Neurodevelopmental Disorders, Ribonucleoproteins, RNA Recognition Motif Proteins
Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here, we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1 (La ribonucleoprotein 1). LARP1 encodes an RNA-binding protein that post-transcriptionally regulates the stability and translation of thousands of mRNAs, including those regulating cellular metabolism and metabolic plasticity. Using lymphocytes collected and immortalized from an index proband who carries a truncating variant in one allele of LARP1, we demonstrated that lower cellular levels of LARP1 protein cause reduced rates of aerobic respiration and glycolysis. As expression of LARP1 increases during neurodevelopment, with higher levels in neurons and astrocytes, we propose that LARP1 haploinsufficiency contributes to ASD or related NDDs through attenuated metabolic activity in the developing fetal brain.

Published
2024

9. CHAPTER 2 GEOLOGY

Author

Collins, A. S., primary, Ali, J. R., additional, Razakamanana, T, additional, Flynn, J. J., additional, Ranivoharimanana, L., additional, Wyss, A. R., additional, Krause, D. W., additional, O’Connor, P. M., additional, Sertich, J. J. W., additional, Curry Rogers, K., additional, Rogers, R. R., additional, Rakotozafy, B., additional, Samonds, K. E., additional, Huber, M., additional, Tiley, G. P., additional, Yoder, A. D., additional, Masters, J. C., additional, Génin, F., additional, Pellen, R., additional, Mazza, P. P. A., additional, Zhang, Y., additional, Huck, T., additional, Rabineau, M., additional, and Aslanian, D., additional

Published
2022
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10. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Author

Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola M.E., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., and Steet, Richard

Published
2023
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16. Drug-eluting stents versus bare-metal stents in saphenous vein grafts: a double-blind, randomised trial

Author

Brilakis, Emmanouil S, Edson, Robert, Bhatt, Deepak L, Goldman, Steven, Holmes, David R, Rao, Sunil V, Shunk, Kendrick, Rangan, Bavana V, Mavromatis, Kreton, Ramanathan, Kodangudi, Bavry, Anthony A, Garcia, Santiago, Latif, Faisal, Armstrong, Ehrin, Jneid, Hani, Conner, Todd A, Wagner, Todd, Karacsonyi, Judit, Uyeda, Lauren, Ventura, Beverly, Alsleben, Aaron, Lu, Ying, Shih, Mei-Chiung, Banerjee, Subhash, Investigators, DIVA Trial, Ahmed, Bina, Ratliff, D Michelle, Ricciardi, Mark, Sheldon, Mark, Icenogle, Milton, Snider, Richard, Ardati, Amer, Nallamothu, Brahmajee, Duvernoy, Claire, Menees, Daniel S, Gurm, Hitinder, Thomas, Michael P, Grossman, Paul, Owen, Kristine, Topaz, On, Kumar, Gautam, Block, Peter, Zidar, David A, Bezerra, Hiram, Goldberg, Jonathan, Ortiz, Jose, Jozic, Joseph, Osman, Mohammed, Rosenthal, Noah, Parikh, Sahil A, Lassar, Tom A, Chan, Albert, Kumar, Arun, Aggarwal, Kul, Cyrus, Tillmann, Grodin, Jerrold, Hattler, Brack, Casserly, Ivan, Messenger, John, Kim, Michael, Rogers, R Kevin, Waldo, Stephen, Tsai, Thomas, Morris, Kenneth, Krucoff, Mitchell, Rao, Sunil, Povsic, Thomas J, Jones, William S, Bavry, Anthony, Choi, Calvin, Park, Ki, Liu, Jayson, Kar, Biswajit, Paniagua, David, Breall, Jeffrey, Bolad, Islam, Mukerji, Rita, Subbarao, Roopa, Abdel-Latif, Ahmed, Booth, David C, Ziada, Khaled M, Rajan, Lawrence, Hakeem, Abdul, Uretsky, Barry F, Agrawal, Mayank, Sachdeva, Rajesh, Ahmed, Zubair, McGee, Jesse, Shah, Rahman, Sharma, Alok, McFalls, Edward, Siddiqui, Rizwan, and Adabag, Selcuk

Subjects
Cardiovascular, Bioengineering, Clinical Research, Heart Disease, Clinical Trials and Supportive Activities, Patient Safety, Assistive Technology, Atherosclerosis, Heart Disease - Coronary Heart Disease, Aged, Double-Blind Method, Drug-Eluting Stents, Female, Graft Rejection, Humans, Male, Middle Aged, Percutaneous Coronary Intervention, Saphenous Vein, Self Expandable Metallic Stents, Thrombosis, Treatment Outcome, DIVA Trial Investigators, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundFew studies have examined the efficacy of drug-eluting stents (DES) for reducing aortocoronary saphenous vein bypass graft (SVG) failure compared with bare-metal stents (BMS) in patients undergoing stenting of de-novo SVG lesions. We assessed the risks and benefits of the use of DES versus BMS in de-novo SVG lesions.MethodsPatients were recruited to our double-blind, randomised controlled trial from 25 US Department of Veterans Affairs centres. Eligible participants were aged at least 18 years and had at least one significant de-novo SVG lesion (50-99% stenosis of a 2·25-4·5 mm diameter SVG) requiring percutaneous coronary intervention with intent to use embolic protection devices. Enrolled patients were randomly assigned, in a 1:1 ratio, by phone randomisation system to receive a DES or BMS. Randomisation was stratified by presence or absence of diabetes and number of target SVG lesions requiring percutaneous coronary intervention (one or two or more) within each participating site by use of an adaptive scheme intended to balance the two stent type groups on marginal totals for the stratification factors. Patients, referring physicians, study coordinators, and outcome assessors were masked to group allocation. The primary endpoint was the 12-month incidence of target vessel failure, defined as the composite of cardiac death, target vessel myocardial infarction, or target vessel revascularisation. The DIVA trial is registered with ClinicalTrials.gov, number NCT01121224.FindingsBetween Jan 1, 2012, and Dec 31, 2015, 599 patients were randomly assigned to the stent groups, and the data for 597 patients were used. The patients' mean age was 68·6 (SD 7·6) years, and 595 (>99%) patients were men. The two stent groups were similar for most baseline characteristics. At 12 months, the incidence of target vessel failure was 17% (51 of 292) in the DES group versus 19% (58 of 305) in the BMS group (adjusted hazard ratio 0·92, 95% CI 0·63-1·34, p=0·70). Between-group differences in the components of the primary endpoint, serious adverse events, or stent thrombosis were not significant. Enrolment was stopped before the revised target sample size of 762 patients was reached.InterpretationIn patients undergoing stenting of de-novo SVG lesions, no significant differences in outcomes between those receiving DES and BMS during 12 months of follow-up were found. The study results have important economic implications in countries with high DES prices such as the USA, because they suggest that the lower-cost BMS can be used in SVG lesions without compromising either safety or efficacy.FundingUS Department of Veterans Affairs Cooperative Studies Program.

Published
2018

17. Methods, design, and initial results of an angiographic core lab from VOYAGER-PAD

Author

Rogers, R Kevin, primary, Herold, Joerg, additional, Govsyeyev, Nicholas, additional, Iezzi, Roberto, additional, Morrison, Justin, additional, Hogan, Shea E, additional, Nehler, Mark, additional, Bricker, Rory, additional, Andring, Brice, additional, Bergmark, Brian, additional, Cavender, Matt, additional, Malgor, Emily, additional, Jacobs, Donald, additional, Young, Michael N, additional, Capell, Warren, additional, Yčas, Joseph W, additional, Anand, Sonia S, additional, Berkowitz, Scott D, additional, Debus, E Sebastian, additional, Haskell, Lloyd P, additional, Muehlhofer, Eva, additional, Patel, Manesh R, additional, Hess, Connie N, additional, Bauersachs, Rupert M, additional, Anderson, Victoria, additional, and Bonaca, Marc P, additional

Published
2024
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21. Developing implicit and explicit knowledge of L2 case marking under incidental learning conditions

Author

Rogers, R. J. and Revesz, A.

Subjects
401
Abstract

This thesis reports on five experiments that investigated the role of awareness in second language acquisition (SLA). Previous research has demonstrated that various areas of second language (L2) grammar can be acquired as result of incidental exposure. In addition, it has been shown that this exposure can lead to implicit knowledge. The results from recent experiments examining the incidental learning of L2 morphology, however, have found little evidence of incidental learning. Furthermore, what little research there is has not provided firm evidence of the nature of the knowledge acquired in these experiments. This thesis set out to address these gaps by testing the degree to which L2 inflectional morphology can be acquired as a result of incidental exposure, and whether the resulting knowledge is implicit or explicit in nature. The experiments in this thesis followed two different methodologies to address the issues outlined above. The first four experiments followed the artificial grammar learning paradigm, and the final experiment followed a self-paced reading methodology. In the training phase of all experiments, participants were exposed to an artificial language system based on Czech morphology under incidental learning conditions. Subjective measures of awareness and retrospective verbal reports were used to address awareness in all five experiments. The results of the first four experiments indicated that L2 case markers can be learned in the presence of low levels of awareness (below the threshold of verbalisation). These results were supported by the findings of the final experiment. However, the final experiment also revealed that this knowledge can be utilised automatically. Thus, the results of this thesis provide additional data to address the aspects of L2 grammar that can be acquired as a result of incidental exposure and provide further insight into the characteristics of the knowledge that is acquired as a result of this exposure.

Published
2016

26. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Author

Pavinato, L, Delle Vedove, A, Carli, D, Ferrero, M, Carestiato, S, Howe, J, Agolini, E, Coviello, D, Van De Laar, I, Au, P, Di Gregorio, E, Fabbiani, A, Croci, S, Mencarelli, M, Bruno, L, Renieri, A, Veltra, D, Sofocleous, C, Faivre, L, Mazel, B, Safraou, H, DenommCrossed D signCopyright-Pichon, A, Van Slegtenhorst, M, Giesbertz, N, Van Jaarsveld, R, Childers, A, Rogers, R, Novelli, A, De Rubeis, S, Buxbaum, J, Scherer, S, Ferrero, G, Wirth, B, Brusco, A, Pavinato L., Delle Vedove A., Carli D., Ferrero M., Carestiato S., Howe J. L., Agolini E., Coviello D. A., Van De Laar I., Au P. Y. B., Di Gregorio E., Fabbiani A., Croci S., Mencarelli M. A., Bruno L. P., Renieri A., Veltra D., Sofocleous C., Faivre L., Mazel B., Safraou H., DenommCrossed D signCopyright-Pichon A. -S., Van Slegtenhorst M. A., Giesbertz N., Van Jaarsveld R. H., Childers A., Rogers R. C., Novelli A., De Rubeis S., Buxbaum J. D., Scherer S. W., Ferrero G. B., Wirth B., Brusco A., Pavinato, L, Delle Vedove, A, Carli, D, Ferrero, M, Carestiato, S, Howe, J, Agolini, E, Coviello, D, Van De Laar, I, Au, P, Di Gregorio, E, Fabbiani, A, Croci, S, Mencarelli, M, Bruno, L, Renieri, A, Veltra, D, Sofocleous, C, Faivre, L, Mazel, B, Safraou, H, DenommCrossed D signCopyright-Pichon, A, Van Slegtenhorst, M, Giesbertz, N, Van Jaarsveld, R, Childers, A, Rogers, R, Novelli, A, De Rubeis, S, Buxbaum, J, Scherer, S, Ferrero, G, Wirth, B, Brusco, A, Pavinato L., Delle Vedove A., Carli D., Ferrero M., Carestiato S., Howe J. L., Agolini E., Coviello D. A., Van De Laar I., Au P. Y. B., Di Gregorio E., Fabbiani A., Croci S., Mencarelli M. A., Bruno L. P., Renieri A., Veltra D., Sofocleous C., Faivre L., Mazel B., Safraou H., DenommCrossed D signCopyright-Pichon A. -S., Van Slegtenhorst M. A., Giesbertz N., Van Jaarsveld R. H., Childers A., Rogers R. C., Novelli A., De Rubeis S., Buxbaum J. D., Scherer S. W., Ferrero G. B., Wirth B., and Brusco A.

Abstract

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM∗601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated sCAPRIN1+/- human induced pluripotent stem cells via CRISPR-Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel auto

Published
2023

27. The Contemporary Safety and Effectiveness of Lower Extremity Bypass Surgery and Peripheral Endovascular Interventions in the Treatment of Symptomatic Peripheral Arterial Disease.

Author

Tsai, Thomas, Rehring, Thomas, Rogers, R, Shetterly, Susan, Wagner, Nicole, Gupta, Rajan, Jazaeri, Omid, Hedayati, Nasim, Jones, W, Patel, Manesh, Ho, P, Go, Alan, and Magid, David

Subjects
comparative effectiveness research, lower extremity bypass surgery, peripheral arterial disease, Aged, Amputation, Surgical, California, Colorado, Comorbidity, Delivery of Health Care, Integrated, Endovascular Procedures, Female, Humans, Incidence, Intermittent Claudication, Ischemia, Kaplan-Meier Estimate, Lower Extremity, Male, Middle Aged, Peripheral Arterial Disease, Postoperative Complications, Registries, Retrospective Studies, Surgical Wound Infection, Treatment Outcome, Vascular Surgical Procedures
Abstract

BACKGROUND: Treatment for symptomatic peripheral artery disease includes lower extremity bypass surgery (LEB) and peripheral endovascular interventions (PVIs); however, limited comparative effectiveness data exist between the 2 therapies. We assessed the safety and effectiveness of LEB and PVI in patients with symptomatic claudication and critical limb ischemia. METHODS AND RESULTS: In a community-based clinical registry at 2 large integrated healthcare delivery systems, we compared 883 patients undergoing PVI and 975 patients undergoing LEB between January 1, 2005 and December 31, 2011. Rates of target lesion revascularization were greater for PVI than for LEB in patients presenting with claudication (12.3±2.7% and 19.0±3.5% at 1 and 3 years versus 5.2±2.4% and 8.3±3.1%, log-rank P

Published
2015

28. Immunologic predictors of liver transplantation outcomes in HIV-HCV co-infected persons

Author

Stock, Peter, Balagopal, A, Barin, B, Quinn, J, Rogers, R, Sulkowski, MS, and Stock, PG

Abstract

Copyright © 2015 Balagopal et al.Liver disease is a leading cause of mortality among HIV-infected persons in the highly active anti-retroviral therapy (HAART) era. Hepatitis C Virus (HCV) co-infection is prevalent in, and worsened by HIV; consequently many

Published
2015

30. Reduction of breast cancer relapses with perioperative non-steroidal anti-inflammatory drugs: new findings and a review

Author

Retsky, M. W., Demicheli, R., Hrushesky, W. J. M., Forget, P., DeKock, M., Gukas, I., Rogers, R. A., Baum, M., Sukhatme, V., and Vaidya, J. S.

Subjects
Quantitative Biology - Tissues and Organs
Abstract

To explain a bimodal pattern of hazard of relapse among early stage breast cancer patients identified in multiple databases, we proposed that late relapses result from steady stochastic progressions from single dormant malignant cells to avascular micrometastases and then on to growing deposits. However in order to explain early relapses, we had to postulate that something happens at about the time of surgery to provoke sudden exits from dormant phases to active growth and then to detection. Most relapses in breast cancer are in the early category. Recent data from Forget et al suggests an unexpected mechanism. They retrospectively studied results from 327 consecutive breast cancer patients comparing various perioperative analgesics and anesthetics in one Belgian hospital and one surgeon. Patients were treated with mastectomy and conventional adjuvant therapy. Relapse hazard updated Sept 2011 are presented. A common Non-Steroidal Anti-Inflammatory Drug (NSAID) analgesic used in surgery produced far superior disease-free survival in the first 5 years after surgery. The expected prominent early relapse events in months 9-18 are reduced 5-fold. If this observation holds up to further scrutiny, it could mean that the simple use of this safe, inexpensive and effective anti-inflammatory agent at surgery might eliminate early relapses. Transient systemic inflammation accompanying surgery could facilitate angiogenesis of dormant micrometastases, proliferation of dormant single cells, and seeding of circulating cancer stem cells (perhaps in part released from bone marrow) resulting in early relapse and could have been effectively blocked by the perioperative anti-inflammatory agent., Comment: 25 pages, 10 figures, in press; Current Medicinal Chemistry, May 2013

Published
2013

31. The LAGUNA design study- towards giant liquid based underground detectors for neutrino physics and astrophysics and proton decay searches

Author

LAGUNA Collaboration, Angus, D., Ariga, A., Autiero, D., Apostu, A., Badertscher, A., Bennet, T., Bertola, G., Bertola, P. F., Besida, O., Bettini, A., Booth, C., Borne, J. L., Brancus, I., Bujakowsky, W., Campagne, J. E., Danil, G. Cata, Chipesiu, F., Chorowski, M., Cripps, J., Curioni, A., Davidson, S., Declais, Y., Drost, U., Duliu, O., Dumarchez, J., Enqvist, T., Ereditato, A., von Feilitzsch, F., Fynbo, H., Gamble, T., Galvanin, G., Gendotti, A., Gizicki, W., Goger-Neff, M., Grasslin, U., Gurney, D., Hakala, M., Hannestad, S., Haworth, M., Horikawa, S., Jipa, A., Juget, F., Kalliokoski, T., Katsanevas, S., Keen, M., Kisiel, J., Kreslo, I., Kudryastev, V., Kuusiniemi, P., Labarga, L., Lachenmaier, T., Lanfranchi, J. C., Lazanu, I., Lewke, T., Loo, K., Lightfoot, P., Lindner, M., Longhin, A., Maalampi, J., Marafini, M., Marchionni, A., Margineanu, R. M., Markiewicz, A., Marrodan-Undagoita, T., Marteau, J. E., Matikainen, R., Meindl, Q., Messina, M., Mietelski, J. W., Mitrica, B., Mordasini, A., Mosca, L., Moser, U., Nuijten, G., Oberauer, L., Oprina, A., Paling, S., Pascoli, S., Patzak, T., Pectu, M., Pilecki, Z., Piquemal, F., Potzel, W., Pytel, W., Raczynski, M., Rafflet, G., Ristaino, G., Robinson, M., Rogers, R., Roinisto, J., Romana, M., Rondio, E., Rossi, B., Rubbia, A., Sadecki, Z., Saenz, C., Saftoiu, A., Salmelainen, J., Sima, O., Slizowski, J., Slizowski, K., Sobczyk, J., Spooner, N., Stoica, S., Suhonen, J., Sulej, R., Szarska, M., Szeglowski, T., Temussi, M., Thompson, J., Thompson, L., Trzaska, W. H., Tippmann, M., Tonazzo, A., Urbanczyk, K., Vasseur, G., Williams, A., Winter, J., Wojutszewska, K., Wurm, M., Zalewska, A., Zampaolo, M., and Zito, M.

Subjects
Physics - Instrumentation and Detectors, Astrophysics - Instrumentation and Methods for Astrophysics, High Energy Physics - Experiment
Abstract

The feasibility of a next generation neutrino observatory in Europe is being considered within the LAGUNA design study. To accommodate giant neutrino detectors and shield them from cosmic rays, a new very large underground infrastructure is required. Seven potential candidate sites in different parts of Europe and at several distances from CERN are being studied: Boulby (UK), Canfranc (Spain), Fr\'ejus (France/Italy), Pyh\"asalmi (Finland), Polkowice-Sieroszowice (Poland), Slanic (Romania) and Umbria (Italy). The design study aims at the comprehensive and coordinated technical assessment of each site, at a coherent cost estimation, and at a prioritization of the sites within the summer 2010., Comment: 5 pages, contribution to the Workshop "European Strategy for Future Neutrino Physics", CERN, Oct. 2009

Published
2009

32. Ethnoracial Risk Variation Across the Psychosis Continuum in the US: A Systematic Review and Meta-Analysis.

Author

van der Ven, Els, Olino, Thomas M., Diehl, Katharina, Nuñez, Stephanie M., Thayer, Griffin, Bridgwater, Miranda A., Ereshefsky, Sabrina, Musket, Christie, Lincoln, Sarah Hope, Rogers, R. Tyler, Klaunig, Mallory J., Soohoo, Emily, DeVylder, Jordan E., Grattan, Rebecca E., Schiffman, Jason, Ellman, Lauren M., Niendam, Tara A., and Anglin, Deidre M.

Subjects
ASIANS, PSYCHOSES, BLACK people, INSTITUTIONAL racism, PEOPLE with schizophrenia, 22Q11 deletion syndrome
Abstract

This systematic review and meta-analysis investigates if ethnoracial groups in the US differ in risk of schizophrenia and other psychotic disorders, clinical high risk for psychosis, and psychotic symptoms and experiences. Key Points: Question: Do ethnoracial groups in the US differ in risk of schizophrenia and other psychotic disorders, clinical high risk for psychosis (CHR-P), and psychotic symptoms (PSs) and experiences (PEs)? Findings: In this systematic review and meta-analysis including 64 studies of which 47 studies were included in the meta-analysis, risk of schizophrenia diagnosis was significantly increased among Black individuals and those categorized as other ethnoracial group compared with White individuals, and risk of PSs/PEs was significantly increased among both Black and Latinx groups. Findings regarding CHR-P were equivocal. Meaning: Ethnoracial risk variation in the US is present across multiple psychosis-related outcomes, suggesting that factors other than diagnostic bias alone underlie these disparities. Importance: Studies suggest a higher risk of schizophrenia diagnoses in Black vs White Americans, yet a systematic investigation of disparities that include other ethnoracial groups and multiple outcomes on the psychosis continuum is lacking. Objective: To identify ethnoracial risk variation in the US across 3 psychosis continuum outcomes (ie, schizophrenia and other psychotic disorders, clinical high risk for psychosis [CHR-P], and psychotic symptoms [PSs] and psychotic experiences [PEs]). Data Sources: PubMed, PsycINFO and Embase were searched up to December 2022. Study Selection: Observational studies on ethnoracial differences in risk of 3 psychosis outcomes. Data Extraction and Synthesis: Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. Using a random-effects model, estimates for ethnoracial differences in schizophrenia and PSs/PEs were pooled and moderation by sampling and setting was determined, along with the assessment of heterogeneity and risk of bias. Main Outcomes and Measures: Risk of schizophrenia and other psychotic disorder, CHR-P, and conversion to psychosis among CHR-P and PSs/PEs. Results: Of 64 studies in the systematic review, 47 were included in the meta-analysis comprising 54 929 people with schizophrenia and 223 097 with data on PSs/PEs. Compared with White individuals, Black individuals had increased risk of schizophrenia (pooled odds ratio [OR], 2.07; 95% CI, 1.64-2.61) and PSs/PEs (pooled standardized mean difference [SMD], 0.10; 95% CI, 0.03-0.16), Latinx individuals had higher risk of PSs/PEs (pooled SMD, 0.15; 95% CI, 0.08-0.22), and individuals classified as other ethnoracial group were at significantly higher risk of schizophrenia than White individuals (pooled OR, 1.81; 95% CI, 1.31-2.50). The results regarding CHR-P studies were mixed and inconsistent. Sensitivity analyses showed elevated odds of schizophrenia in Asian individuals in inpatient settings (pooled OR, 1.84; 95% CI, 1.19-2.84) and increased risk of PEs among Asian compared with White individuals, specifically in college samples (pooled SMD, 0.16; 95% CI, 0.02-0.29). Heterogeneity across studies was high, and there was substantial risk of bias in most studies. Conclusions and Relevance: Findings of this systematic review and meta-analysis revealed widespread ethnoracial risk variation across multiple psychosis outcomes. In addition to diagnostic, measurement, and hospital bias, systemic influences such as structural racism should be considered as drivers of ethnoracial disparities in outcomes across the psychosis continuum in the US. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Author

Claus, Laura R., primary, Chen, Chuan, additional, Stallworth, Jennifer, additional, Turner, Joshua L., additional, Slaats, Gisela G., additional, Hawks, Alexandra L., additional, Mabillard, Holly, additional, Senum, Sarah R., additional, Srikanth, Sujata, additional, Flanagan-Steet, Heather, additional, Louie, Raymond J., additional, Silver, Josh, additional, Lerner-Ellis, Jordan, additional, Morel, Chantal, additional, Mighton, Chloe, additional, Sleutels, Frank, additional, van Slegtenhorst, Marjon, additional, van Ham, Tjakko, additional, Brooks, Alice S., additional, Dorresteijn, Eiske M., additional, Barakat, Tahsin Stefan, additional, Dahan, Karin, additional, Demoulin, Nathalie, additional, Goffin, Eric Jean, additional, Olinger, Eric, additional, Larsen, Martin, additional, Hertz, Jens Michael, additional, Lilien, Marc R., additional, Obeidová, Lena, additional, Seeman, Tomas, additional, Stone, Hillarey K., additional, Kerecuk, Larissa, additional, Gurgu, Mihai, additional, Yousef Yengej, Fjodor A., additional, Ammerlaan, Carola M.E., additional, Rookmaaker, Maarten B., additional, Hanna, Christian, additional, Rogers, R. Curtis, additional, Duran, Karen, additional, Peters, Edith, additional, Sayer, John A., additional, van Haaften, Gijs, additional, Harris, Peter C., additional, Ling, Kun, additional, Mason, Jennifer M., additional, van Eerde, Albertien M., additional, Steet, Richard, additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Bevers, Roel, additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boustred, Christopher R., additional, Brittain, Helen, additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Elgar, Greg, additional, Fowler, Tom, additional, Giess, Adam, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Kousathanas, Athanasios, additional, Lahnstein, Lea, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, McEntagart, Meriel, additional, Minneci, Federico, additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, O’Donovan, Peter, additional, Odhams, Chris A., additional, Patch, Christine, additional, Pereira, Mariana Buongermino, additional, Perez-Gil, Daniel, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smith, Samuel C., additional, Sosinsky, Alona, additional, Stuckey, Alexander, additional, Tanguy, Mélanie, additional, Taylor Tavares, Ana Lisa, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tucci, Arianna, additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, and Wood, Suzanne M., additional

Published
2023
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36. TCT-243 Early Risk of Major Adverse Limb Events Following Lower Extremity Revascularization in the VOYAGER-PAD Trial

Author

Rogers, R. Kevin, primary, Patel, Manesh, additional, Nehler, Mark, additional, Anand, Sonia, additional, Hess, Connie, additional, Hsia, Judith, additional, Szarek, Michael, additional, Nelms, Jerrod, additional, Muehlhofer, Eva, additional, Haskell, Lloyd, additional, Berkowitz, Scott, additional, and Bonaca, Marc, additional

Published
2023
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40. Antimicrobial Resistance Pattern of Escherichia coli Isolates from Small Scale Dairy Cattle in Dar es Salaam, Tanzania

Author

Rogers R. Azabo, Stephen E. Mshana, Mecky I. Matee, and Sharadhuli I. Kimera

Subjects
antimicrobial resistance, cattle, Escherichia coli, Dar es Salaam, Tanzania, Veterinary medicine, SF600-1100, Zoology, QL1-991
Abstract

In Tanzania, information on antimicrobial resistance in small-scale dairy cattle is scarce. This cross-sectional study was conducted to determine the different levels and pattern of antimicrobial resistance (AMR), in 121 Escherichia coli isolated from rectal swab of 201 apparently healthy small-scale dairy cattle in Dar es Salaam, Tanzania. Isolation and identification of E. coli were carried out using enrichment media, selective media, and biochemical tests. Antimicrobial susceptibility testing was carried out using the Kirby–Bauer disk diffusion method on Mueller-Hinton agar (Merck), according to the recommendations of Clinical and Laboratory Standards Institute (CLSI). Resistance was tested against ampicillin, gentamicin, chloramphenicol, trimethoprim-sulfamethoxazole, tetracycline, nalidixic acid, ciprofloxacin and cefotaxime. Resistance to almost all antimicrobial agents was observed. The agents to which resistance was demonstrated most frequently were ampicillin (96.7%), cefotaxime (95.0%), tetracycline (50.4%), trimethoprim-sulfamethoxazole (42.1%) and nalidixic acid (33.1%). In this case, 20 extended-spectrum beta-lactamases (ESBLs) producing E. coli were identified. 74.4% (90/121) of the isolates were Multidrug resistant (MDR), ranging from a combination of three to 8 different classes. The most frequently observed phenotypes were AMP-SXT-CTX with a prevalence of 12.4%, followed by the combination AMP-CTX with 10.7% and TE-AMP-CTX and NA + TE + AMP + CTX with 8.3% each. The high prevalence and wide range of AMR calls for prudent antimicrobial use.

Published
2022
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45. Measuring surface-area-to-volume ratios in soft porous materials using laser-polarized xenon interphase exchange NMR

Author

Butler, J. P., Mair, R. W., Patz, S., Hoffmann, D., Hrovat, M. I., Rogers, R. A., Topulos, G. P., and Walsworth, R. L.

Subjects
Condensed Matter - Soft Condensed Matter
Abstract

We demonstrate a minimally invasive nuclear magnetic resonance (NMR) technique that enables determination of the surface-area-to-volume ratio (S/V) of soft porous materials from measurements of the diffusive exchange of laser-polarized 129Xe between gas in the pore space and 129Xe dissolved in the solid phase. We apply this NMR technique to porous polymer samples and find approximate agreement with destructive stereological measurements of S/V obtained with optical confocal microscopy. Potential applications of laser-polarized xenon interphase exchange NMR include measurements of in vivo lung function in humans and characterization of gas chromatography columns., Comment: 14 pages of text, 4 figures

Published
2001
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47. A study of the influence of genetic and environmental factors upon chromosome stability

Author

Rogers, R. W. S.

Subjects
572.8
Abstract

The primary aim of this study was to investigate the effects of various genetic and environmental factors on chromosome stability. Several different cytogenetic techniques were applied to characterise numerical and structural chromosome changes in human cell lines under different conditions. Fluorescence in situ Hybridisation (FISH), using whole chromosome paints was used to assess chromosome changes in a set of human thyroid cancer cell lines with varying p53 status. The results highlighted the influence of p53 status and in vitro ageing upon numerical and structural instability. The second part of the study involved the application of the cytokinesis blocked micronucleus assay in combination with the immunofluorescent staining of the kinetochores and centromere specific FISH to study the genotoxic potential of Colchicine, Nocodazole, Albendazole and Taxol in AHH-1 cells. Results confirmed their anegenic potential and revealed that aneuploidy was occurring principally by chromosome non-disjunction. The final section of this research was the investigation of centrosome stability and the response on human fibroblasts with varying p53 status to UV B exposure. The p53 status of the cultures did not have any visible effect upon the number of centrosomes present in the cells. Differential staining of the spindle and the chromosomes revealed no damage to the mitotic machinery following UV B exposure. A dose and cell type dependent response in apoptosis induction was observed, this appeared to be occurring via a p53 independent mechanism.

Published
2003

48. Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Author

Robin, Nathaniel H, Taylor, Clare J, McDonald‐McGinn, Donna M, Zackai, Elaine H, Bingham, Peter, Collins, Kevin J, Earl, Dawn, Gill, Deepak, Granata, Tiziana, Guerrini, Renzo, Katz, Naomi, Kimonis, Virginia, Lin, Jean‐Pierre, Lynch, David R, Mohammed, Shehla N, Massey, Roger F, McDonald, Marie, Rogers, R Curtis, Splitt, Miranda, Stevens, Cathy A, Tischkowitz, Marc D, Stoodley, Neil, Leventer, Richard J, Pilz, Daniela T, and Dobyns, William B

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Clinical Research, Neurosciences, Pediatric, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Congenital, Cerebellum, Cerebral Cortex, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Humans, Magnetic Resonance Imaging, Male, Syndrome, Tomography, X-Ray Computed, Velopharyngeal Insufficiency, Genetics, Clinical sciences
Abstract

Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11.

Published
2006

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