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2. Video Modeling and Scenario-Based Learning on Interpersonal Skills and Work Readiness for Transition Age Students with Disabilities: An Interdisciplinary Approach

Author

Katherine M. Landsiedel, Orley A. Templeton, Jennifer R. Washko, Michael A. Floren, Elizabeth B. Kavanaugh, Carolyn B. Maguire, Erin A. Onoshko, Katherine E. Schmitter, and Martina M. Sledziewski

Abstract

This pretest/posttest study investigated the effectiveness of an interdisciplinary program in which occupational therapists and speech-language pathologists used a combination of video modeling, scenario-based learning, guided discussion, and reflection on the development of interpersonal skills and work readiness among students with disabilities. This study examined 20 high school and postgraduate transitional students enrolled full-time in Life Skills Support classrooms in two rural high schools. Participants completed 21 dynamic and interactive group sessions which included video modeling, scenario-based learning, guided discussion, and reflection. Sessions were completed once a week, for one hour, and focused on enhancing interpersonal skills, cognitive skills, work habits, and performance skills. Sessions were delivered via an interdisciplinary model with participants' primary occupational therapist and speech-language pathologist. Results of the paired-samples t-test found a statistically significant increase in the Becker Work Adjustment Profile-2 scores in three categories: Cognitive Skills, Work Performance, and Broad Work Adjustment. All students showed growth on Goal Attainment Scaling (GAS) T-scores; 18 of the 20 students achieved GAS T-scores greater than threshold performance.

Published
2024
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5. A novel whole blood assay to quantify the release of T cell associated cytokines in response to Bordetella pertussis antigens

Author

Diavatopoulos, Dimitri A., Mills, Kingston H.G., Kester, Kent E., Kampmann, Beate, Silerova, Marcela, Heininger, Ulrich, van Dongen, Jacques J.M., van der Most, Robbert G., Huijnen, Martijn A., Siena, Emilio, Mielcarek, Nathalie, Ochs, Martina M., Denoël, Philippe, Berbers, Guy, Buisman, Annemarie M., de Jonge, Marien I., Fenwick, Craig, Gorringe, Andrew, He, Qiushui, Kelly, Dominic, Le Grand, Roger, Locht, Camille, Mascart, Françoise, Mertsola, Jussi, Orfao, Alberto, Pantaleo, Giuseppe, Pollard, Andrew J., Preston, Andrew, Read, Robert, Sebo, Peter, van Els, Cecile, Vecerek, Branislav, Londoño-Hayes, Patricia, de Groot, Ronald, Pinto, Marta Valente, Barkoff, Alex-Mikael, Bibi, Sagida, Knuutila, Aapo, Teräsjärvi, Johanna, Clutterbuck, Elizabeth, Gimenez-Fourage, Sophie, Pagnon, Anke, van Gaans-van den Brink, Jacqueline A.M., Corbiere, Veronique, De Montfort, Aymeric, Saso, Anja, Jobe, Haddijatou, Roetynck, Sophie, Simonetti, Elles, Diavatopoulos, Dimitri, Lambert, Eleonora E., Blanc, Pascal, and van Els, Cécile A.C.M.

Published
2024
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6. Fiducial Reference Measurements for Air Quality Monitoring Using Ground-Based MAX-DOAS Instruments (FRM4DOAS)

Author

Michel Van Roozendael, Francois Hendrick, Martina M. Friedrich, Caroline Fayt, Alkis Bais, Steffen Beirle, Tim Bösch, Monica Navarro Comas, Udo Friess, Dimitris Karagkiozidis, Karin Kreher, Alexis Merlaud, Gaia Pinardi, Ankie Piters, Cristina Prados-Roman, Olga Puentedura, Lucas Reischmann, Andreas Richter, Jan-Lukas Tirpitz, Thomas Wagner, Margarita Yela, and Steffen Ziegler

Subjects
fiducial reference measurements, remote sensing, UV–visible, DOAS, NDACC, reactive gases, Science
Abstract

The UV–Visible Working Group of the Network for the Detection of Atmospheric Composition Changes (NDACC) focuses on the monitoring of air-quality-related stratospheric and tropospheric trace gases in support of trend analysis, satellite validation and model studies. Tropospheric measurements are based on MAX-DOAS-type instruments that progressively emerged in the years 2010 onward. In the interest of improving the overall consistency of the NDACC MAX-DOAS network and facilitating its further extension to the benefit of satellite validation, the ESA initiated, in late 2016, the FRM4DOAS project, which aimed to set up the first centralised data processing system for MAX-DOAS-type instruments. Developed by a consortium of European scientists with proven expertise in measurements, data extraction algorithms and software design specialities, the system has now reached pre-operational status and has demonstrated its ability to deliver a set of quality-controlled atmospheric composition data products with a latency of one day. The processing system has been designed using a highly modular approach, making it easy to integrate new tools or processing updates. It incorporates advanced algorithms selected by community consensus for the retrieval of total ozone, lower tropospheric and stratospheric NO2 vertical profiles and formaldehyde profiles. The ozone and NO2 products are currently generated from a total of 22 stations and delivered daily to the NDACC rapid delivery (RD) repository, with an additional mirroring to the ESA Validation Data Centre (EVDC). Although it is still operated in a pre-operational/demonstrational mode, FRM4DOAS was already used for several validation and science studies, and it was also deployed in support of field campaigns for the validation of the TROPOMI and GEMS satellite missions. It recently went through a CEOS-FRM self-assessment process aiming at assessing the level of maturity of the service in terms of instrumentation, operations, data sampling, metrology and verification. Based on this evaluation, it falls under class C, which is a good rating but also implies that further improvements are needed to reach full compliance with FRM standards, i.e., class A.

Published
2024
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9. A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

Author

Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., and Živná, Martina

Published
2024
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15. From mouse to mouse‐ear cress: Nanomaterials as vehicles in plant biotechnology

Author

Xia, Xue, Shi, Bingyang, Wang, Lei, Liu, Yang, Zou, Yan, Zhou, Yun, Chen, Yu, Zheng, Meng, Zhu, Yingfang, Duan, Jingjing, Guo, Siyi, Jang, Ho Won, Miao, Yuchen, Fan, Kelong, Bai, Feng, Tao, Wei, Zhao, Yong, Yan, Qingyu, Cheng, Gang, Liu, Huiyu, Jiao, Yan, Liu, Shanhu, Huang, Yuanyu, Ling, Daishun, Kang, Wenyi, Xue, Xue, Cui, Daxiang, Huang, Yongwei, Cui, Zongqiang, Sun, Xun, Qian, Zhiyong, Gu, Zhen, Han, Gang, Yang, Zhimou, Leong, David Tai, Wu, Aiguo, Liu, Gang, Qu, Xiaogang, Shen, Youqing, Wang, Qiangbin, Lowry, Gregory V, Wang, Ertao, Liang, Xing‐Jie, Gardea‐Torresdey, Jorge, Chen, Guoping, Parak, Wolfgang J, Weiss, Paul S, Zhang, Lixin, Stenzel, Martina M, Fan, Chunhai, Bush, Ashley I, Zhang, Gaiping, Grof, Christopher PL, Wang, Xuelu, Galbraith, David W, Tang, Ben Zhong, Offler, Christina E, Patrick, John W, and Song, Chun‐Peng

Subjects
Medical Biotechnology, Biomedical and Clinical Sciences, Engineering, Nanotechnology, Biotechnology, Bioengineering, nanocarrier, plant nano‐biotechnology
Abstract

Biological applications of nanomaterials as delivery carriers have been embedded in traditional biomedical research for decades. Despite lagging behind, recent significant breakthroughs in the use of nanocarriers as tools for plant biotechnology have created great interest. In this Perspective, we review the outstanding recent works in nanocarrier-mediated plant transformation and its agricultural applications. We analyze the chemical and physical properties of nanocarriers determining their uptake efficiency and transport throughout the plant body.

Published
2021

16. AI-Based Sound Event Detection on IoT Nodes: Requirements Evaluation

Author

Errico, D., Re, M., Colombo, V., Cardarilli, G. C., Martina, M., Roch, M. Ruo, Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Berta, Riccardo, editor, and De Gloria, Alessandro, editor

Published
2023
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20. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Author

Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, and Judith J. M. Jans

Subjects
untargeted metabolomics, inherited metabolic diseases, direct-infusion high resolution mass spectrometry, biomarker, diagnostics, genetic diseases, Biology (General), QH301-705.5
Abstract

Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for a comprehensive test to acquire an overview of metabolite status. Untargeted metabolomics has proven its clinical potential in diagnosing IMDs, but is not yet widely used in genetic metabolic laboratories.Methods: We assessed the potential role of plasma untargeted metabolomics in a clinical diagnostic setting by using direct infusion high resolution mass spectrometry (DI-HRMS) in parallel with traditional targeted metabolite assays. We compared quantitative data and qualitative performance of targeted versus untargeted metabolomics in patients suspected of an IMD (n = 793 samples) referred to our laboratory for 1 year. To compare results of both approaches, the untargeted data was limited to polar metabolites that were analyzed in targeted plasma assays. These include amino acid, (acyl)carnitine and creatine metabolites and are suitable for diagnosing IMDs across many of the disease groups described in the international classification of inherited metabolic disorders (ICIMD).Results: For the majority of metabolites, the concentrations as measured in targeted assays correlated strongly with the semi quantitative Z-scores determined with DI-HRMS. For 64/793 patients, targeted assays showed an abnormal metabolite profile possibly indicative of an IMD. In 55 of these patients, similar aberrations were found with DI-HRMS. The remaining 9 patients showed only marginally increased or decreased metabolite concentrations that, in retrospect, were most likely to be clinically irrelevant. Illustrating its potential, DI-HRMS detected additional patients with aberrant metabolites that were indicative of an IMD not detected by targeted plasma analysis, such as purine and pyrimidine disorders and a carnitine synthesis disorder.Conclusion: This one-year pilot study showed that DI-HRMS untargeted metabolomics can be used as a first-tier approach replacing targeted assays of amino acid, acylcarnitine and creatine metabolites with ample opportunities to expand. Using DI-HRMS untargeted metabolomics as a first-tier will open up possibilities to look for new biomarkers.

Published
2023
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22. "Becoming" and "being" a father : an examination of the fathering experiences of Irish young men who were early school leavers

Author

Osborne, Martina M. and Wood, Elizabeth Ann

Abstract

The research study examines the fathering experiences of Irish young men who were early school leavers. The study explores how their childhood – with and without their fathers – influenced their views, attitudes and aspirations, as they became fathers themselves. A multiple case study of six men, who had their first child when they were between the ages of 18 and 23 years old, presented data in a series of semi-structured, one-to-one interviews. Photographs and diagrams were used to encourage the narration of relational fathering experiences in their childhood and of the men’s subsequent position on becoming and being fathers to their children. The data was analysed using a structural and a thematic analysis approach. The findings indicate that the men were emotionally impacted by childhood fathering experiences, both negatively and positively, and these influenced how they subsequently aimed to be fathers to their children. On becoming a father, each man used his perceptions of his childhood experiences to inform him of the ways in which he understands what it takes to be a father and what it means to be a father. The study highlights that being a father is dependent on being close and connected to children. When barriers impede a connection, a perceived lack of felt love from a father impacts on children for a lifetime, causing mental distress as a child and as an adult. Relational disconnection from fathers negatively influences children’s development and was seen as a contributory factor in children’s engagement in, or absence from, education. Despite earlier disrupted education, the men valued further education opportunities which reinforced their intention to encourage their children’s future education prospects. The change in attitude to education was education itself. Building on the combination of Bowlby’s attachment theory (1980, 1973, 1969) and Bronfenbrenner’ ecological theory (1979), a hybrid conceptual theory of “closeness and connectedness” is suggested. The theory represents how children and fathers are individually impacted by sociocultural practices that affect their relational connection with one another. Being actively involved with their children creates positive opportunities for fathers to become “close and connected” to their children, a position which requires multi-tiered sociocultural support.

Published
2020

28. Nanodelivery of Mycophenolate Mofetil to the Organ Improves Transplant Vasculopathy

Author

Uehara, Mayuko, Bahmani, Baharak, Jiang, Liwei, Jung, Sungwook, Banouni, Naima, Kasinath, Vivek, Solhjou, Zhabiz, Zhao, Jing, Ordikhani, Farideh, Bae, Munhyung, Annabi, Nasim, McGrath, Martina M, and Abdi, Reza

Subjects
Heart Disease, Bioengineering, Transplantation, Cardiovascular, Nanotechnology, Organ Transplantation, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Inflammatory and immune system, Animals, Drug Delivery Systems, Female, Graft Rejection, Heart Transplantation, Human Umbilical Vein Endothelial Cells, Humans, Inflammation, Male, Mice, Mice, Inbred C57BL, Mycophenolic Acid, Nanomedicine, Nanoparticles, Preoperative Care, Transplants, nanodelivery, transplant, mycophenolate mofetil, chronic rejection, selective drug delivery, Nanoscience & Nanotechnology
Abstract

Inflammation occurring within the transplanted organ from the time of harvest is an important stimulus of early alloimmune reactivity and promotes chronic allograft rejection. Chronic immune-mediated injury remains the primary obstacle to the long-term success of organ transplantation. However, organ transplantation represents a rare clinical setting in which the organ is accessible ex vivo, providing an opportunity to use nanotechnology to deliver therapeutics directly to the graft. This approach facilitates the directed delivery of immunosuppressive agents (ISA) to target local pathogenic immune responses prior to the transplantation. Here, we have developed a system of direct delivery and sustained release of mycophenolate mofetil (MMF) to treat the donor organ prior to transplantation. Perfusion of a donor mouse heart with MMF-loaded PEG-PLGA nanoparticles (MMF-NPs) prior to transplantation abrogated cardiac transplant vasculopathy by suppressing intragraft pro-inflammatory cytokines and chemokines. Our findings demonstrate that ex vivo delivery of an ISA to donor organs using a nanocarrier can serve as a clinically feasible approach to reduce transplant immunity.

Published
2019

31. Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Author

Richard C. Caswell, Adam C. Gunning, Martina M. Owens, Sian Ellard, and Caroline F. Wright

Subjects
Variant classification, Variant interpretation, Missense variant, Pathogenicity, Prediction, Modelling, Medicine, Genetics, QH426-470
Abstract

Abstract Background The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of genomic data has been paralleled by a rise in the number of protein structures that are now publicly available, which may have clinical utility for the interpretation of missense and in-frame insertions or deletions. Methods Within a UK National Health Service genomic medicine diagnostic laboratory, we investigated the number of VUS over a 5-year period that were evaluated using protein structural analysis and how often this analysis aided variant classification. Results We found 99 novel missense and in-frame variants across 67 genes that were initially classified as VUS by our diagnostic laboratory using standard variant classification guidelines and for which further analysis of protein structure was requested. Evidence from protein structural analysis was used in the re-assessment of 64 variants, of which 47 were subsequently reclassified as pathogenic or likely pathogenic and 17 remained as VUS. We identified several case studies where protein structural analysis aided variant interpretation by predicting disease mechanisms that were consistent with the observed phenotypes, including loss-of-function through thermodynamic destabilisation or disruption of ligand binding, and gain-of-function through de-repression or escape from proteasomal degradation. Conclusions We have shown that using in silico protein structural analysis can aid classification of VUS and give insights into the mechanisms of pathogenicity. Based on our experience, we propose a generic evidence-based workflow for incorporating protein structural information into diagnostic practice to facilitate variant classification.

Published
2022
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32. Fiducial Reference Measurements for Air Quality Monitoring Using Ground-Based MAX-DOAS Instruments (FRM4DOAS).

Author

Van Roozendael, Michel, Hendrick, Francois, Friedrich, Martina M., Fayt, Caroline, Bais, Alkis, Beirle, Steffen, Bösch, Tim, Navarro Comas, Monica, Friess, Udo, Karagkiozidis, Dimitris, Kreher, Karin, Merlaud, Alexis, Pinardi, Gaia, Piters, Ankie, Prados-Roman, Cristina, Puentedura, Olga, Reischmann, Lucas, Richter, Andreas, Tirpitz, Jan-Lukas, and Wagner, Thomas

Subjects
AIR quality monitoring, SERVER farms (Computer network management), INFORMATION storage & retrieval systems, TRACE gases, ATMOSPHERIC composition, CAPABILITY maturity model
Abstract

The UV–Visible Working Group of the Network for the Detection of Atmospheric Composition Changes (NDACC) focuses on the monitoring of air-quality-related stratospheric and tropospheric trace gases in support of trend analysis, satellite validation and model studies. Tropospheric measurements are based on MAX-DOAS-type instruments that progressively emerged in the years 2010 onward. In the interest of improving the overall consistency of the NDACC MAX-DOAS network and facilitating its further extension to the benefit of satellite validation, the ESA initiated, in late 2016, the FRM4DOAS project, which aimed to set up the first centralised data processing system for MAX-DOAS-type instruments. Developed by a consortium of European scientists with proven expertise in measurements, data extraction algorithms and software design specialities, the system has now reached pre-operational status and has demonstrated its ability to deliver a set of quality-controlled atmospheric composition data products with a latency of one day. The processing system has been designed using a highly modular approach, making it easy to integrate new tools or processing updates. It incorporates advanced algorithms selected by community consensus for the retrieval of total ozone, lower tropospheric and stratospheric NO2 vertical profiles and formaldehyde profiles. The ozone and NO2 products are currently generated from a total of 22 stations and delivered daily to the NDACC rapid delivery (RD) repository, with an additional mirroring to the ESA Validation Data Centre (EVDC). Although it is still operated in a pre-operational/demonstrational mode, FRM4DOAS was already used for several validation and science studies, and it was also deployed in support of field campaigns for the validation of the TROPOMI and GEMS satellite missions. It recently went through a CEOS-FRM self-assessment process aiming at assessing the level of maturity of the service in terms of instrumentation, operations, data sampling, metrology and verification. Based on this evaluation, it falls under class C, which is a good rating but also implies that further improvements are needed to reach full compliance with FRM standards, i.e., class A. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Validation of GEMS tropospheric NO2 columns and their diurnal variation with ground-based DOAS measurements.

Author

Lange, Kezia, Richter, Andreas, Bösch, Tim, Zilker, Bianca, Latsch, Miriam, Behrens, Lisa K., Okafor, Chisom M., Bösch, Hartmut, Burrows, John P., Merlaud, Alexis, Pinardi, Gaia, Fayt, Caroline, Friedrich, Martina M., Dimitropoulou, Ermioni, Van Roozendael, Michel, Ziegler, Steffen, Ripperger-Lukosiunaite, Simona, Kuhn, Leon, Lauster, Bianca, and Wagner, Thomas

Subjects
ENVIRONMENTAL physics, SPRING, GEOSTATIONARY satellites, AUTUMN, LIGHT absorption
Abstract

Instruments for air quality observations on geostationary satellites provide multiple observations per day and allow for the analysis of the diurnal variation in important air pollutants such as nitrogen dioxide (NO2). The South Korean instrument GEMS (Geostationary Environmental Monitoring Spectrometer), launched in February 2020, is the first geostationary instrument that is able to observe the diurnal variation in NO2. The measurements have a spatial resolution of 3.5 km × 8 km and cover a large part of Asia. This study compares 1 year of tropospheric NO2 vertical column density (VCD) observations from the operational GEMS L2 product, the scientific GEMS IUP-UB (Institute of Environmental Physics at the University of Bremen) product, the operational TROPOspheric Monitoring Instrument (TROPOMI) product, and ground-based differential optical absorption spectroscopy (DOAS) measurements in South Korea. The GEMS L2 tropospheric NO2 VCDs overestimate the ground-based tropospheric NO2 VCDs with a median relative difference of + 61 % and a correlation coefficient of 0.76. The median relative difference is - 2 % for the GEMS IUP-UB product and - 16 % for the TROPOMI product, with correlation coefficients of 0.83 and 0.89, respectively. The scatter in the GEMS products can be reduced when observations are limited to the TROPOMI overpass time. Diurnal variations in tropospheric NO2 VCDs differ by the pollution level of the analyzed site but with good agreement between the GEMS IUP-UB and ground-based observations. Low-pollution sites show weak or almost no diurnal variation. In summer, the polluted sites show a minimum around noon, indicating the large influence of photochemical loss. Most variation is seen in spring and autumn, with increasing NO2 in the morning, a maximum close to noon, and a decrease towards the afternoon. Winter observations show rather flat or slightly decreasing NO2 throughout the day. Winter observations under low-wind-speed conditions at high-pollution sites show enhancements of NO2 throughout the day. This indicates that under calm conditions, dilution and the less effective chemical loss in winter do not balance the accumulating emissions. Diurnal variation observed at a low-pollution site follows seasonal wind patterns. A weekday–weekend effect analysis shows good agreement between the different products. However, the GEMS L2 product, while agreeing with the other data sets on weekdays, shows significantly less reduction on weekends. The influence of the stratospheric contribution and the surface reflectivity product on the satellite tropospheric NO2 VCD products is investigated. While the TM5 model's stratospheric VCDs, used in the TROPOMI product, are too high, resulting in tropospheric NO2 VCDs that are too low and even negative, when used in the GEMS IUP-UB retrieval, the GEMS L2 stratospheric VCD is too low. Surface reflectivity comparisons indicate that the GEMS L2 reflectivity makes a large contribution to the observed overestimation and scatter. [ABSTRACT FROM AUTHOR]

Published
2024
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35. Is repeat fine needle aspiration required in thyroid nodules with initial benign cytology? Results from a large Irish series

Author

Hafiz M. Zia-ul-Hussnain, Oratile Kgosidialwa, Carmel Kennedy, Mark Quinn, Emma Dolan, Paul Deignan, Mark Sherlock, Chris J. Thompson, Diarmuid Smith, James P. O’Neill, Arnold Hill, Mary Leader, Helen Barrett, Cliona Ryan, Frank Keeling, Martina M. Morrin, and Amar Agha

Subjects
Benign, Thyroid nodule, Thy classification, Fine needle aspiration, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Abstract Background Fine needle aspiration (FNA) cytology is the preferred method for assessing thyroid nodules for malignancy. Concern remains about the rate of false negative results. The primary aim of this study is to investigate the malignancy rate of thyroid nodules initially classified as benign (Thy 2). Methods We retrospectively examined 658 nodules in 653 (429 female) patients between January 2013 to December 2017. All FNA biopsies (FNABs) were performed under ultrasound (US) guidance by a radiologist with expertise in thyroid pathology. Nodules were cytologically classified according to the UK Royal College of Pathologists guidelines. Decisions about further management were made at a regular thyroid multidisciplinary meeting. Follow up of the Thy 2 nodules was determined based on clinical and radiological criteria. Results The mean age (± SD) was 53.2 (14.6) years. Five hundred out of 658 (76.0%) nodules were classified as Thy 2 (benign) after the first FNAB. Of these thyroid nodules initially classified as benign, 208 (41.6%) underwent repeat FNAB and 9 (1.8%) were surgically removed without repeat FNAB. The remainder were followed up clinically and/or radiologically. Seven (1.4%) of nodules initially classified as Thy 2 were later shown to be or to harbor malignancy after a follow-up of 74.5 (± 19.7) months. Papillary thyroid microcarcinomas were found co-incidentally in two thyroid glands of benign nodules, giving a true prevalence of 5/500 (1.0%). Conclusions With a well targeted FNAB, the false negative rate of an initial benign thyroid FNA is very low thus routine second FNAB is not required in patients with a thyroid nodule initially deemed benign. Multidisciplinary input is imperative in informing decision making.

Published
2022
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41. The lived experience of mental disorders in adolescents: a bottom‐up review co‐designed, co‐conducted and co‐written by experts by experience and academics

Author

Fusar‐Poli, Paolo, primary, Estradé, Andrés, additional, Esposito, Cecilia M., additional, Rosfort, René, additional, Basadonne, Ilaria, additional, Mancini, Milena, additional, Stanghellini, Giovanni, additional, Otaiku, Jummy, additional, Olanrele, Oluwadamilola, additional, Allen, Lucas, additional, Lamba, Muskan, additional, Alaso, Catherine, additional, Ieri, Judy, additional, Atieno, Margret, additional, Oluoch, Yvonne, additional, Ireri, Phides, additional, Tembo, Ephraim, additional, Phiri, Innocent Z., additional, Nkhoma, Duncan, additional, Sichone, Noah, additional, Siadibbi, Candy, additional, Sundi, Pharidah R.I.O., additional, Ntokozo, Nyathi, additional, Fusar‐Poli, Laura, additional, Floris, Valentina, additional, Mensi, Martina M., additional, Borgatti, Renato, additional, Damiani, Stefano, additional, Provenzani, Umberto, additional, Brondino, Natascia, additional, Bonoldi, Ilaria, additional, Radua, Joaquim, additional, Cooper, Kate, additional, Shin, Jae Il, additional, Cortese, Samuele, additional, Danese, Andrea, additional, Bendall, Sarah, additional, Arango, Celso, additional, Correll, Christoph U., additional, and Maj, Mario, additional

Published
2024
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43. Astrocytic C–X–C motif chemokine ligand-1 mediates β-amyloid-induced synaptotoxicity

Author

Beatriz G. Perez-Nievas, Louisa Johnson, Paula Beltran-Lobo, Martina M. Hughes, Luciana Gammallieri, Francesca Tarsitano, Monika A. Myszczynska, Irina Vazquez-Villasenor, Maria Jimenez-Sanchez, Claire Troakes, Stephen B. Wharton, Laura Ferraiuolo, and Wendy Noble

Subjects
Astrocyte, Synapse, Beta-amyloid, Alzheimer’s disease, CXCL1, Tau, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Pathological interactions between β-amyloid (Aβ) and tau drive synapse loss and cognitive decline in Alzheimer’s disease (AD). Reactive astrocytes, displaying altered functions, are also a prominent feature of AD brain. This large and heterogeneous population of cells are increasingly recognised as contributing to early phases of disease. However, the contribution of astrocytes to Aβ-induced synaptotoxicity in AD is not well understood. Methods We stimulated mouse and human astrocytes with conditioned medium containing concentrations and species of human Aβ that mimic those in human AD brain. Medium from stimulated astrocytes was collected and immunodepleted of Aβ before being added to naïve rodent or human neuron cultures. A cytokine, identified in unbiased screens of stimulated astrocyte media and in postmortem human AD brain lysates was also applied to neurons, including those pre-treated with a chemokine receptor antagonist. Tau mislocalisation, synaptic markers and dendritic spine numbers were measured in cultured neurons and organotypic brain slice cultures. Results We found that conditioned medium from stimulated astrocytes induces exaggerated synaptotoxicity that is recapitulated following spiking of neuron culture medium with recombinant C–X–C motif chemokine ligand-1 (CXCL1), a chemokine upregulated in AD brain. Antagonism of neuronal C–X–C motif chemokine receptor 2 (CXCR2) prevented synaptotoxicity in response to CXCL1 and Aβ-stimulated astrocyte secretions. Conclusions Our data indicate that astrocytes exacerbate the synaptotoxic effects of Aβ via interactions of astrocytic CXCL1 and neuronal CXCR2 receptors, highlighting this chemokine–receptor pair as a novel target for therapeutic intervention in AD.

Published
2021
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44. Sex Differences in Characteristics, Outcomes, and Treatment Response With Dapagliflozin Across the Range of Ejection Fraction in Patients With Heart Failure: Insights From DAPA-HF and DELIVER

Author

Wang, Xiaowen, Vaduganathan, Muthiah, Claggett, Brian L., Hegde, Sheila M., Pabon, Maria, Kulac, Ian J., Vardeny, Orly, O’Meara, Eileen, Zieroth, Shelley, Katova, Tzvetana, McGrath, Martina M., Pouleur, Anne-Catherine, Jhund, Pardeep S., Desai, Akshay S., Inzucchi, Silvio E., Kosiborod, Mikhail N., de Boer, Rudolf A., Kober, Lars, Sabatine, Marc S., Martinez, Felipe A., Ponikowski, Piotr, Shah, Sanjiv J., Hernandez, Adrian F., Langkilde, Anna Maria, McMurray, John J.V., Solomon, Scott D., and Lam, Carolyn S.P.

Published
2023
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45. Second asymptomatic carotid surgery trial (ACST-2): a randomised comparison of carotid artery stenting versus carotid endarterectomy

Author

Halliday, Alison, Bulbulia, Richard, Bonati, Leo H, Peto, Richard, Pan, Hongchao, Potter, John, Henning Eckstein, Hans, Farrell, Barbara, Flather, Marcus, Mansfield, Averil, Mihaylova, Boby, Rahimi, Kazim, Simpson, David, Thomas, Dafydd, Sandercock, Peter, Gray, Richard, Molyneux, Andrew, Shearman, Cliff P, Rothwell, Peter, Belli, Anna, Herrington, Will, Judge, Parminder, Leopold, Peter, Mafham, Marion, Gough, Michael, Cao, Piergiorgio, MacDonald, Sumaira, Bari, Vasha, Berry, Clive, Bradshaw, S, Brudlo, Wojciech, Clarke, Alison, Chester, Johanna, Cox, Robin, Cradduck-Bamford, Andrea, Fathers, Susan, Gaba, Kamran, Gray, Mo, Hayter, Elizabeth, Holliday, Constance, Kurien, Rijo, Lay, Michael, le Conte, Steffi, McManus, Jessica, Madgwick, Zahra, Morris, Dylan, Munday, Andrew, Pickworth, Sandra, Ostasz, Wiktor, Poorthuis, Michiel, Richards, Sue, Teixeira, Louisa, Tochlin, Sergey, Tully, Lynda, Wallis, Carol, Willet, Monique, Young, Alan, Casana, Renato, Malloggi, Chiara, Odero Jr, Andrea, Silani, Vincenzo, Parati, Gianfranco, Malchiodi, Giuseppe, Malferrari, Giovanni, Strozzi, Francesco, Tusini, Nicola, Vecchiati, Enrico, Coppi, Gioacchino, Lauricella, Antonio, Moratto, Roberto, Silingardi, Roberto, Veronesi, Jessica, Zini, Andrea, Ferrero, Emanuele, Ferri, Michelangelo, Gaggiano, Andrea, Labate, Carmelo, Nessi, Franco, Psacharopulo, Daniele, Viazzo, Andrea, Malacrida, Giovanni, Mazzaccaro, Daniela, Meola, Giovanni, Modafferi, Alfredo, Nano, Giovanni, Occhiuto, Maria Teresa, Righini, Paolo, Stegher, Silvia, Chiarandini, Stefano, Griselli, Filippo, Lepidi, Sandro, Pozzi Mucelli, Fabio, Naccarato, Marcello, D'Oria, Mario, Ziani, Barbara, Stella, Andrea, Dieng, Mortalla, Faggioli, Gianluca, Gargiulo, Mauro, Palermo, Sergio, Pini, Rodolfo, Puddu, Giovanni Maria, Vacirca, Andrea, Angiletta, Domenico, Desantis, Claudio, Marinazzo, Davide, Mastrangelo, Giovanni, Regina, Guido, Pulli, Raffaele, Bianchi, Paolo, Cireni, Lea, Coppi, Elisabetta, Pizzirusso, Rocco, Scalise, Filippo, Sorropago, Giovanni, Tolva, Valerio, Caso, Valeria, Cieri, Enrico, DeRango, Paola, Farchioni, Luca, Isernia, Giacomo, Lenti, Massimo, Parlani, Gian Battista, Pupo, Guglielmo, Pula, Grazia, Simonte, Gioele, Verzini, Fabio, Carimati, Federico, Delodovici, Maria Luisa, Fontana, Federico, Piffaretti, Gabriele, Tozzi, Matteo, Civilini, Efrem, Poletto, Giorgio, Reimers, Bernhard, Praquin, Barbara, Ronchey, Sonia, Capoccia, Laura, Mansour, Wassim, Sbarigia, Enrico, Speziale, Francesco, Sirignano, Pasqualino, Toni, Danilo, Galeotti, Roberto, Gasbarro, Vincenzo, Mascoli, Francesco, Rocca, Tiberio, Tsolaki, Elpiniki, Bernardini, Giulia, DeMarco, Ester, Giaquinta, Alessia, Patti, Francesco, Veroux, Massimiliano, Veroux, Pierfrancesco, Virgilio, Carla, Mangialardi, Nicola, Orrico, Matteo, Di Lazzaro, Vincenzo, Montelione, Nunzio, Spinelli, Francesco, Stilo, Francesco, Cernetti, Carlo, Irsara, Sandro, Maccarrone, Giuseppe, Tonello, Diego, Visonà, Adriana, Zalunardo, Beniamino, Chisci, Emiliano, Michelagnoli, Stefano, Troisi, Nicola, Masato, Maela, Dei Negri, Massimo, Pacchioni, Andrea, Saccà, Salvatore, Amatucci, Giovanni, Cannizzaro, Alfredo, Accrocca, Federico, Ambrogi, Cesare, Barbazza, Renzo, Marcucci, Giustino, Siani, Andrea, Bajardi, Guido, Savettieri, Giovanni, Argentieri, Angelo, Corbetta, Riccardo, Odero, Attilio, Quaretti, Pietro, Thyrion, Federico Z, Cappelli, Alessandro, Benevento, Domenico, De Donato, Gianmarco, Mele, Maria Agnese, Palasciano, Giancarlo, Pieragalli, Daniela, Rossi, Alessandro, Setacci, Carlo, Setacci, Francesco, Palombo, Domenico, Perfumo, Maria Cecilia, Martelli, Edoardo, Paolucci, Aldo, Trimarchi, Santi, Grassi, Viviana, Grimaldi, Luigi, La Rosa, Giuliana, Mirabella, Domenico, Scialabba, Matteo, Sichel, Leonildo, D'Angelo, Costantino L, Fadda, Gian Franco, Kasemi, Holta, Marino, Mario, Burzotta, Francesco, Codispoti, Francesco Alberto, Ferrante, Angela, Tinelli, Giovanni, Tshomba, Yamume, Vincenzoni, Claudio, Amis, Deborah, Anderson, Dawn, Catterson, Martin, Clarke, Mike, Davis, Michelle, Dixit, Anand, Dyker, Alexander, Ford, Gary, Jackson, Ralph, Kappadath, Sreevalsan, Lambert, David, Lees, Tim, Louw, Stephen, McCaslin, James, Parr, Noala, Robson, Rebecca, Stansby, Gerard, Wales, Lucy, Wealleans, Vera, Wilson, Lesley, Wyatt, Michael, Baht, Hardeep, Balogun, Ibrahim, Burger, Ilse, Cosier, Tracy, Cowie, Linda, Gunathilagan, Gunaratnam, Hargroves, David, Insall, Robert, Jones, Sally, Rudenko, Hannah, Schumacher, Natasha, Senaratne, Jawaharlal, Thomas, George, Thomson, Audrey, Webb, Tom, Brown, Ellen, Esisi, Bernard, Mehrzad, Ali, MacSweeney, Shane, McConachie, Norman, Southam, Alison, Sunman, Wayne, Abdul-Hamiq, Ahmed, Bryce, Jenny, Chetter, Ian, Ettles, Duncan, Lakshminarayan, Raghuram, Mitchelson, Kim, Rhymes, Christopher, Robinson, Graham, Scott, Paul, Vickers, Alison, Ashleigh, Ray, Butterfield, Stephen, Gamble, Ed, Ghosh, Jonathan, McCollum, Charles N, Welch, Mark, Welsh, Sarah, Wolowczyk, Leszek, Donnelly, Mary, D'Souza, Stephen, Egun, Anselm A, Gregary, Bindu, Joseph, Thomas, Kelly, Christine, Punekar, Shuja, Rahi, M Asad, Raj, Sonia, Seriki, Dare, Thomson, George, Brown, James, Durairajan, Ragunath, Grunwald, Iris, Guyler, Paul, Harman, Paula, Jakeways, Matthew, Khuoge, Christopher, Kundu, Ashish, Loganathan, Thayalini, Menon, Nisha, Prabakaran, Raji O, Sinha, Devesh, Thompson, Vicky, Tysoe, Sharon, Briley, Dennis, Darby, Chris, Hands, Linda, Howard, Dominic, Kuker, Wilhelm, Schulz, Ursula, Teal, Rachel, Barer, David, Brown, Andrew, Crawford, Susan, Dunlop, Paul, Krishnamurthy, Ramesh, Majmudar, Nikhil, Mitchell, Duncan, Myint, Min P, O'Brien, Richard, O'Connell, Janice, Sattar, Naweed, Vetrivel, Shanmugam, Beard, Jonathan, Cleveland, Trevor, Gaines, Peter, Humphreys, John, Jenkins, Alison, King, Craig, Kusuma, Daniel, Lindert, Ralph, Lonsdale, Robbie, Nair, Raj, Nawaz, Shah, Okhuoya, Faith, Turner, Douglas, Venables, Graham, Dorman, Paul, Hughes, Andrea, Jones, Deborah, Mendelow, David, Rodgers, Helen, Raudoniitis, Aidas, Enevoldson, Peter, Nahser, Hans, O'Brien, Imelda, Torella, Francesco, Watling, Dave, White, Richard, Brown, Pauline, Dutta, Dipankar, Emerson, Lorraine, Hilltout, Paula, Kulkarni, Sachin, Morrison, Jackie, Poskitt, Keith, Slim, Fiona, Smith, Sarah, Tyler, Amanda, Waldron, Joanne, Whyman, Mark, Bajoriene, Milda, Baker, Lucy, Colston, Amanda, Eliot-Jones, Bekky, Gramizadeh, Gita, Lewis-Clarke, Catherine, McCafferty, Laura, Oliver, Deborah, Palmer, Debbie, Patil, Abhijeet, Pegler, Suzannah, Ramadurai, Gopi, Roberts, Aisling, Sargent, Tracey, Siddegowda, Shivaprasad, Singh-Ranger, Ravi, Williams, Akintunde, Williams, Lucy, Windebank, Steve, Zuromskis, Tadas, Alwis, Lanka, Angus, Jane, Asokanathan, Asaipillai, Fornolles, Caroline, Hardy, Diana, Hunte, Sophy, Justin, Frances, Phiri, Duke, Mitabouana-Kibou, Marie, Sekaran, Lakshmanan, Sethuraman, Sakthivel, Tate, Margaret L, Akyea-Mensah, Joyce, Ball, Stephen, Chrisopoulou, Angela, Keene, Elizabeth, Phair, Alison, Rogers, Steven, Smyth, John V, Bicknell, Colin, Chataway, Jeremy, Cheshire, Nicholas, Clifton, Andrew, Eley, Caroline, Gibbs, Richard, Hamady, Mohammad, Hazel, Beth, James, Alex, Jenkins, Michael, Khanom, Nyma, Lacey, Austin, Mireskandari, Maz, O'Reilly, Joanna, Pereira, Antony, Sachs, Tina, Wolfe, John, Davey, Philip, Rogers, Gill, Smith, Gemma, Tervit, Gareth, Nichol, Ian, Parry, Andrew, Young, Gavin, Ashley, Simon, Barwell, James, Dix, Francis, Nor, Azlisham M, Parry, Chris, Birt, Angela, Davies, Paul, George, Jim, Graham, Anne, Jonker, Leon, Kelsall, Nicci, Potts, Caroline, Wilson, Toni, Crinnion, Jamie, Cuenoud, Larissa, Aleksic, Nikola, Babic, Srdan, Ilijevski, Nenad, Radak, Đorde, Sagic, Dragan, Tanaskovic, Slobodan, Colic, Momcilo, Cvetic, Vladimir, Davidovic, Lazar, Jovanovic, Dejana R, Koncar, Igor, Mutavdžic, Perica, Sladojevic, Miloš, Tomic, Ivan, Debus, Eike S, Grzyska, Ulrich, Otto, Dagmar, Thomalla, Götz, Barlinn, Jessica, Gerber, Johannes, Haase, Kathrin, Hartmann, Christian, Ludwig, Stefan, Pütz, Volker, Reeps, Christian, Schmidt, Christine, Weiss, Norbert, Werth, Sebastian, Winzer, Simon, Gemper, Janine, Günther, Albrecht, Heiling, Bianka, Jochmann, Elisabeth, Karvouniari, Panagiota, Klingner, Carsten, Mayer, Thomas, Schubert, Julia, Schulze-Hartung, Friederike, Zanow, Jürgen, Bausback, Yvonne, Borger, Franka, Botsios, Spiridon, Branzan, Daniela, Bräunlich, Sven, Hölzer, Henryk, Lenzer, Janin, Piorkowski, Christopher, Richter, Nadine, Schuster, Johannes, Scheinert, Dierk, Schmidt, Andrej, Staab, Holger, Ulrich, Matthias, Werner, Martin, Berger, Hermann, Biró, Gábor, Eckstein, Hans-Henning, Kallmayer, Michael, Kreiser, Kornelia, Zimmermann, Alexander, Berekoven, Bärbel, Frerker, Klaus, Gordon, Vera, Torsello, Giovanni, Arnold, Sebastian, Dienel, Cora, Storck, Martin, Biermaier, Bernhard, Gissler, Hans Martin, Klötzsch, Christof, Pfeiffer, Tomas, Schneider, Ralph, Söhl, Leander, Wennrich, Michael, Alonso, Angelika, Keese, Michael, Groden, Christoph, Cöster, Andreas, Engelhardt, Andreas, Ratusinski, Christoph-Maria, Berg, Bengt, Delle, Martin, Formgren, Johan, Gillgren, Peter, Jarl, Lotta, Kall, Torbjörn B, Konrad, Peter, Nyman, Niklas, Skiöldebrand, Claes, Steuer, Johnny, Takolander, Rabbe, Malmstedt, Jonas, Acosta, Stefan, Björses, Katarina, Brandt, Kerstin, Dias, Nuno, Gottsäter, Anders, Holst, Jan, Kristmundsson, Thorarinn, Kühme, Tobias, Kölbel, Tilo, Lindblad, Bengt, Lindh, Mats, Malina, Martin, Ohrlander, Tomas, Resch, Tim, Rönnle, Viola, Sonesson, Björn, Warvsten, Margareta, Zdanowski, Zbigniew, Campbell, Erik, Kjellin, Per, Lindgren, Hans, Nyberg, Johan, Petersen, Björn, Plate, Gunnar, Pärsson, Håkan, Qvarfordt, Peter, Ignatenko, Pavel, Karpenko, Andrey, Starodubtsev, Vladimir, Chernyavsky, Mikhail A, Golovkova, Maria S, Komakha, Boris B, Zherdev, Nikolay N, Belyasnik, Andrey, Chechulov, Pavel, Kandyba, Dmitry, Stepanishchev, Igor, Csobay-Novák, Csaba, Dósa, Edit, Entz, László, Nemes, Balázs, Szeberin, Zoltán, Barzó, Pál, Bodosi, Mihaly, Fákó, Eniko, Fülöp, Béla, Németh, Tamás, Pazdernyik, Szilárd, Skoba, Krisztina, Vörös, Erika, Chatzinikou, Eleni, Giannoukas, Athanasios, Karathanos, Christos, Koutsias, Stylianos, Kouvelos, Georgios, Matsagkas, Miltiadis, Ralli, Styliani, Rountas, Christos, Rousas, Nikolaos, Spanos, Konstantinos, Brountzos, Elias, Kakisis, John D, Lazaris, Andreas, Moulakakis, Konstantinos G, Stefanis, Leonidas, Tsivgoulis, Georgios, Vasdekis, Spyros, Antonopoulos, Constantine N, Bellenis, Ion, Maras, Dimitrios, Polydorou, Antonios, Polydorou, Victoria, Tavernarakis, Antonios, Ioannou, Nikolaos, Terzoudi, Maria, Lazarides, Miltos, Mantatzis, Michalis, Vadikolias, Kostas, Dzieciuchowicz, Lukasz, Gabriel, Marcin, Krasinski, Zbigniew, Oszkinis, Grzegorz, Pukacki, Fryderyk, Slowinski, Maciej, Stanišic, Michal-Goran, Staniszewski, Ryszard, Tomczak, Jolanta, Zielinski, Maciej, Myrcha, Piotr, Rózanski, Dorota, Drelichowski, Stanislaw, Iwanowski, Wojciech, Koncewicz, Katarzyna, Bialek, Pawel, Biejat, Zbigniew, Czepel, Wojciech, Czlonkowska, Anna, Dowzenko, Anatol, Jedrzejewska, Julia, Kobayashi, Adam, Leszczynski, Jerzy, Malek, Andrzej, Polanski, Jerzy, Proczka, Robert, Skorski, Maciej, Szostek, Mieczyslaw, Andziak, Piotr, Dratwicki, Maciej, Gil, Robert, Nowicki, Miroslaw, Pniewski, Jaroslaw, Rzezak, Jaroslaw, Seweryniak, Piotr, Dabek, Pawel, Juszynski, Michal, Madycki, Grzegorz, Pacewski, Bartosz, Raciborski, Witold, Slowinski, Piotr, Staszkiewicz, Walerian, Bombic, Martin, Chlouba, Vladimír, Fiedler, Jirí, Hes, Karel, Koštál, Petr, Sova, Jindrich, Kríž, Zdenek, Prívara, Mojmír, Reif, Michal, Staffa, Robert, Vlachovský, Robert, Vojtíšek, Bohuslav, Hrbác, Tomáš, Kuliha, Martin, Procházka, Václav, Roubec, Martin, Školoudík, David, Netuka, David, Šteklácová, Anna, Beneš III, Vladimír, Buchvald, Pavel, Endrych, Ladislav, Šercl, Miroslav, Campos Jr, Walter, Casella, Ivan B, de Luccia, Nelson, Estenssoro, André E V, Presti, Calógero, Puech-Leão, Pedro, Neves, Celso R B, da Silva, Erasmo S, Sitrângulo Jr, Cid J, Monteiro, José A T, Tinone, Gisela, Bellini Dalio, Marcelo, Joviliano, Edwaldo E, Pontes Neto, Octávio M, Serra Ribeiro, Mauricio, Cras, Patrick, Hendriks, Jeroen M H, Hoppenbrouwers, Mieke, Lauwers, Patrick, Loos, Caroline, Yperzeele, Laetitia, Geenens, Mia, Hemelsoet, Dimitri, van Herzeele, Isabelle, Vermassen, Frank, Astarci, Parla, Hammer, Frank, Lacroix, Valérie, Peeters, André, Verhelst, Robert, Cirelli, Silvana, Dormal, Pol, Grimonprez, Annelies, Lambrecht, Bart, Lerut, Philipe, Thues, Eddy, De Koster, Guy, Desiron, Quentin, Maertens de Noordhout, Alain, Malmendier, Danielle, Massoz, Mireille, Saad, Georges, Bosiers, Marc, Callaert, Joren, Deloose, Koen, Blanco Cañibano, Estrella, García Fresnillo, Beatriz, Guerra Requena, Mercedes, Morata Barrado, Pilar C, Muela Méndez, Miguel, Yusta Izquierdo, Antonio, Aparici Robles, Fernando, Blanes Orti, Paula, García Dominguez, Luis, Martínez López, Rafael, Miralles Hernández, Manuel, Tembl Ferrairo, José I, Chamorro, Ángel, Macho, Juan, Obach, Víctor, Riambau, Vincent, San Román, Luis, Ahlhelm, Frank J, Blackham, Kristine, Engelter, Stefan, Eugster, Thomas, Gensicke, Henrik, Gürke, Lorenz, Lyrer, Philippe, Mariani, Luigi, Maurer, Marina, Mujagic, Edin, Müller, Mandy, Psychogios, Marios, Stierli, Peter, Stippich, Christoph, Traenka, Christopher, Wolff, Thomas, Wagner, Benjamin, Wiegert, Martina M, Clarke, Sandra, Diepers, Michael, Gröchenig, Ernst, Gruber, Philipp, Isaak, Andrej, Kahles, Timo, Marti, Regula, Nedeltchev, Krassen, Remonda, Luca, Tissira, Nadir, Valença Falcão, Martina, de Borst, Gert J, Lo, Rob H, Moll, Frans L, Toorop, Raechel, van der Worp, Bart H, Vonken, Evert J, Kappelle, Jaap L, Jahrome, Ommid, Vos, Floris, Schuiling, Wouter, van Overhagen, Hendrik, Keunen, Rudolf W M, Knippenberg, Bob, Wever, Jan J, Lardenoije, Jan W, Reijnen, Michel, Smeets, Luuk, van Sterkenburg, Steven, Fraedrich, Gustav, Gizewski, Elke, Gruber, Ingrid, Knoflach, Michael, Kiechl, Stefan, Rantner, Barbara, Abdulamit, Timur, Bergeron, Patrice, Padovani, Raymond, Trastour, Jean-Christophe, Cardon, Jean-Marie, Le Gallou-Wittenberg, Anne, Allaire, Eric, Becquemin, Jean-Pierre, Cochennec-Paliwoda, Frédéric, Desgranges, Pascal, Hosseini, Hassan, Kobeiter, Hicham, Marzelle, Jean, Almekhlafi, Mohammed A, Bal, Simerpreet, Barber, Phillip A, Coutts, Shelagh B, Demchuk, Andrew M, Eesa, Muneer, Gillies, Michelle, Goyal, Mayank, Hill, Michael D, Hudon, Mark E, Jambula, Anitha, Kenney, Carol, Klein, Gary, McClelland, Marie, Mitha, Alim, Menon, Bijoy K, Morrish, William F, Peters, Steven, Ryckborst, Karla J, Samis, Greg, Save, Supriya, Smith, Eric E, Stys, Peter, Subramaniam, Suresh, Sutherland, Garnette R, Watson, Tim, Wong, John H, Zimmel, L, Flis, Vojko, Matela, Jože, Miksic, Kazimir, Milotic, Franko, Mrdja, Božidar, Stirn, Barbara, Tetickovic, Erih, Gasparini, Mladen, Grad, Anton, Kompara, Ingrid, Miloševic, Zoren, Palmiste, Veronika, Toomsoo, Toomas, Aidashova, Balzhan, Kospanov, Nursultan, Lyssenko, Roman, Mussagaliev, Daulet, Beyar, Rafi, Hoffman, Aaron, Karram, Tony, Kerner, Arthur, Nikolsky, Eugenia, Nitecki, Samy, Andonova, Silva, Bachvarov, Chavdar, Petrov, Vesko, Cvjetko, Ivan, Vidjak, Vinko, Halužan, Damir, Petrunic, Mladen, Liu, Bao, Liu, Chang-Wei, Bartko, Daniel, Beno, Peter, Rusnák, František, Zelenák, Kamil, Ezura, Masayuki, Inoue, Takashi, Kimura, Naoto, Kondo, Ryushi, Matsumoto, Yasushi, Shimizu, Hiroaki, Endo, Hidenori, Furui, Eisuke, Bakke, Søren, Krohg-Sørensen, Kristen, Nome, Terje, Skjelland, Mona, Tennøe, Bjørn, Albuquerque e Castro, João, Alves, Gonçalo, Bastos Gonçalves, Frederico, de Aragão Morais, José, Garcia, Ana C, Valentim, Hugo, Vasconcelos, Leonor, Belcastro, Fernando, Cura, Fernando, Zaefferer, Patricio, Abd-Allah, Foad, Eldessoki, Mohamed H, Heshmat Kassem, Hussein, Soliman Gharieb, Haytham, Colgan, Mary P, Haider, Syed N, Harbison, Joe, Madhavan, Prakash, Moore, Dermot, Shanik, Gregor, Kazan, Viviane, Nazzal, Munier, and Ramsey-Williams, Vicki

Published
2021
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46. From mouse to mouse‐ear cress: Nanomaterials as vehicles in plant biotechnology

Author

Xue Xia, Bingyang Shi, Lei Wang, Yang Liu, Yan Zou, Yun Zhou, Yu Chen, Meng Zheng, Yingfang Zhu, Jingjing Duan, Siyi Guo, Ho Won Jang, Yuchen Miao, Kelong Fan, Feng Bai, Wei Tao, Yong Zhao, Qingyu Yan, Gang Cheng, Huiyu Liu, Yan Jiao, Shanhu Liu, Yuanyu Huang, Daishun Ling, Wenyi Kang, Xue Xue, Daxiang Cui, Yongwei Huang, Zongqiang Cui, Xun Sun, Zhiyong Qian, Zhen Gu, Gang Han, Zhimou Yang, David Tai Leong, Aiguo Wu, Gang Liu, Xiaogang Qu, Youqing Shen, Qiangbin Wang, Gregory V. Lowry, Ertao Wang, Xing‐Jie Liang, Jorge Gardea‐Torresdey, Guoping Chen, Wolfgang J. Parak, Paul S. Weiss, Lixin Zhang, Martina M. Stenzel, Chunhai Fan, Ashley I. Bush, Gaiping Zhang, Christopher P. L. Grof, Xuelu Wang, David W. Galbraith, Ben Zhong Tang, Christina E. Offler, John W. Patrick, and Chun‐Peng Song

Subjects
nanocarrier, plant nano‐biotechnology, Biotechnology, TP248.13-248.65
Abstract

Abstract Biological applications of nanomaterials as delivery carriers have been embedded in traditional biomedical research for decades. Despite lagging behind, recent significant breakthroughs in the use of nanocarriers as tools for plant biotechnology have created great interest. In this Perspective, we review the outstanding recent works in nanocarrier‐mediated plant transformation and its agricultural applications. We analyze the chemical and physical properties of nanocarriers determining their uptake efficiency and transport throughout the plant body.

Published
2021
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48. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, and Deardorff, Matthew A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Published
2017

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