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Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham
2019 Journal of Neurodevelopmental Disorders  
Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS).
doi:10.1186/s11689-019-9282-0 pmid:31586495 pmcid:PMC6778364 fatcat:rpfo2gel7fhjdm7a6jo6xupl4y

Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study

Rachael Jane Thorneloe, Rob Horne, Lucy Side, Michael Scott Wolf, Samuel George Smith, Vanessa Adamson, Sarah Ainsworth, Malin Akerlund, Ivanna Baker, Julian Barwell, Jayne Beesley, Lisa Brock (+68 others)
2019 Clinical Breast Cancer  
Uptake of preventive therapies for breast cancer is low. We examined whether women at increased risk of breast cancer can be categorized into groups with similar medication beliefs, and whether belief group membership was prospectively associated with uptake of preventive therapy.
doi:10.1016/j.clbc.2018.10.008 pmid:30518498 pmcid:PMC6395889 fatcat:hmj3zelgaza6vo2tx2ldqz76im

COVID-19: Rapid antigen detection for SARS-CoV-2 by lateral flow assay: A national systematic evaluation of sensitivity and specificity for mass-testing

Tim Peto, Dominic Affron, Babak Afrough, Anita Agasu, Mark Ainsworth, Alison Allanson, Katherine Allen, Collette Allen, Lorraine Archer, Natasha Ashbridge, Iman Aurfan, Miriam Avery (+259 others)
2021 EClinicalMedicine  
Lateral flow device (LFD) viral antigen immunoassays have been developed around the world as diagnostic tests for SARS-CoV-2 infection. They have been proposed to deliver an infrastructure-light, cost-economical solution giving results within half an hour. LFDs were initially reviewed by a Department of Health and Social Care team, part of the UK government, from which 64 were selected for further evaluation from 1st August to 15th December 2020. Standardised laboratory evaluations, and for
more » ... ations, and for those that met the published criteria, field testing in the Falcon-C19 research study and UK pilots were performed (UK COVID-19 testing centres, hospital, schools, armed forces). 4/64 LFDs so far have desirable performance characteristics (orient Gene, Deepblue, Abbott and Innova SARS-CoV-2 Antigen Rapid Qualitative Test). All these LFDs have a viral antigen detection of >90% at 100,000 RNA copies/ml. 8951 Innova LFD tests were performed with a kit failure rate of 5.6% (502/8951, 95% CI: 5.1-6.1), false positive rate of 0.32% (22/6954, 95% CI: 0.20-0.48). Viral antigen detection/sensitivity across the sampling cohort when performed by laboratory scientists was 78.8% (156/198, 95% CI 72.4-84.3). Our results suggest LFDs have promising performance characteristics for mass population testing and can be used to identify infectious positive individuals. The Innova LFD shows good viral antigen detection/sensitivity with excellent specificity, although kit failure rates and the impact of training are potential issues. These results support the expanded evaluation of LFDs, and assessment of greater access to testing on COVID-19 transmission. Department of Health and Social Care. University of Oxford. Public Health England Porton Down, Manchester University NHS Foundation Trust, National Institute of Health Research.
doi:10.1016/j.eclinm.2021.100924 pmid:34101770 pmcid:PMC8164528 fatcat:o6u54bfxjbc25gfi3m2mqxrjvi

Diagnostic accuracy of whole-body MRI versus standard imaging pathways for metastatic disease in newly diagnosed colorectal cancer: the prospective Streamline C trial

Stuart A Taylor, Sue Mallett, Sandy Beare, Gauraang Bhatnagar, Dominic Blunt, Peter Boavida, John Bridgewater, Caroline S Clarke, Marian Duggan, Steve Ellis, Robert Glynne-Jones, Vicky Goh (+193 others)
2019 The Lancet Gastroenterology and Hepatology  
Whole-body MRI (WB-MRI) could be an alternative to multimodality staging of colorectal cancer, but its diagnostic accuracy, effect on staging times, number of tests needed, cost, and effect on treatment decisions are unknown. We aimed to prospectively compare the diagnostic accuracy and efficiency of WB-MRI-based staging pathways with standard pathways in colorectal cancer. The Streamline C trial was a prospective, multicentre trial done in 16 hospitals in England. Eligible patients were 18
more » ... atients were 18 years or older, with newly diagnosed colorectal cancer. Exclusion criteria were severe systemic disease, pregnancy, contraindications to MRI, or polyp cancer. Patients underwent WB-MRI, the result of which was withheld until standard staging investigations were complete and the first treatment decision made. The multidisciplinary team recorded its treatment decision based on standard investigations, then on the WB-MRI staging pathway (WB-MRI plus additional tests generated), and finally on all tests. The primary outcome was difference in per-patient sensitivity for metastases between standard and WB-MRI staging pathways against a consensus reference standard at 12 months, in the per-protocol population. Secondary outcomes were difference in per-patient specificity for metastatic disease detection between standard and WB-MRI staging pathways, differences in treatment decisions, staging efficiency (time taken, test number, and costs), and per-organ sensitivity and specificity for metastases and per-patient agreement for local T and N stage. This trial is registered with the International Standard Randomised Controlled Trial registry, number ISRCTN43958015, and is complete. Between March 26, 2013, and Aug 19, 2016, 1020 patients were screened for eligibility. 370 patients were recruited, 299 of whom completed the trial; 68 (23%) had metastasis at baseline. Pathway sensitivity was 67% (95% CI 56 to 78) for WB-MRI and 63% (51 to 74) for standard pathways, a difference in sensitivity of 4% (-5 to 13, p=0·51). No adverse events related to imaging were reported. Specificity did not differ between WB-MRI (95% [95% CI 92-97]) and standard pathways (93% [90-96], p=0·48). Agreement with the multidisciplinary team's final treatment decision was 96% for WB-MRI and 95% for the standard pathway. Time to complete staging was shorter for WB-MRI (median, 8 days [IQR 6-9]) than for the standard pathway (13 days [11-15]); a 5-day (3-7) difference. WB-MRI required fewer tests (median, one [95% CI 1 to 1]) than did standard pathways (two [2 to 2]), a difference of one (1 to 1). Mean per-patient staging costs were £216 (95% CI 211-221) for WB-MRI and £285 (260-310) for standard pathways. WB-MRI staging pathways have similar accuracy to standard pathways and reduce the number of tests needed, staging time, and cost. UK National Institute for Health Research.
doi:10.1016/s2468-1253(19)30056-1 pmid:31080095 pmcid:PMC6547166 fatcat:svkesjo3vvgnjoiu3ur2wlrtd4

Diagnostic accuracy of whole-body MRI versus standard imaging pathways for metastatic disease in newly diagnosed non-small-cell lung cancer: the prospective Streamline L trial

Stuart A Taylor, Sue Mallett, Simon Ball, Sandy Beare, Gauraang Bhatnagar, Angshu Bhowmik, Peter Boavida, John Bridgewater, Caroline S Clarke, Marian Duggan, Steve Ellis, Robert Glynne-Jones (+193 others)
2019 The Lancet Respiratory Medicine  
Whole-body magnetic resonance imaging (WB-MRI) could be an alternative to multi-modality staging of non-small-cell lung cancer (NSCLC), but its diagnostic accuracy, effect on staging times, number of tests needed, cost, and effect on treatment decisions are unknown. We aimed to prospectively compare the diagnostic accuracy and efficiency of WB-MRI-based staging pathways with standard pathways in NSCLC. The Streamline L trial was a prospective, multicentre trial done in 16 hospitals in England.
more » ... pitals in England. Eligible patients were 18 years or older, with newly diagnosed NSCLC that was potentially radically treatable on diagnostic chest CT (defined as stage IIIb or less). Exclusion criteria were severe systemic disease, pregnancy, contraindications to MRI, or histologies other than NSCLC. Patients underwent WB-MRI, the result of which was withheld until standard staging investigations were complete and the first treatment decision made. The multidisciplinary team recorded its treatment decision based on standard investigations, then on the WB-MRI staging pathway (WB-MRI plus additional tests generated), and finally on all tests. The primary outcome was difference in per-patient sensitivity for metastases between standard and WB-MRI staging pathways against a consensus reference standard at 12 months, in the per-protocol population. Secondary outcomes were difference in per-patient specificity for metastatic disease detection between standard and WB-MRI staging pathways, differences in treatment decisions, staging efficiency (time taken, test number, and costs) and per-organ sensitivity and specificity for metastases and per-patient agreement for local T and N stage. This trial is registered with the International Standard Randomised Controlled Trial registry, number ISRCTN50436483, and is complete. Between Feb 26, 2013, and Sept 5, 2016, 976 patients were screened for eligibility. 353 patients were recruited, 187 of whom completed the trial; 52 (28%) had metastasis at baseline. Pathway sensitivity was 50% (95% CI 37-63) for WB-MRI and 54% (41-67) for standard pathways, a difference of 4% (-7 to 15, p=0·73). No adverse events related to imaging were reported. Specificity did not differ between WB-MRI (93% [88-96]) and standard pathways (95% [91-98], p=0·45). Agreement with the multidisciplinary team's final treatment decision was 98% for WB-MRI and 99% for the standard pathway. Time to complete staging was shorter for WB-MRI (13 days [12-14]) than for the standard pathway (19 days [17-21]); a 6-day (4-8) difference. The number of tests required was similar WB-MRI (one [1-1]) and standard pathways (one [1-2]). Mean per-patient costs were £317 (273-361) for WBI-MRI and £620 (574-666) for standard pathways. WB-MRI staging pathways have similar accuracy to standard pathways, and reduce the staging time and costs. UK National Institute for Health Research.
doi:10.1016/s2213-2600(19)30090-6 pmid:31080129 pmcid:PMC6529610 fatcat:riaraxwvjvdnbbtuzov7oqqxba

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz (+116 others)
2020
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence has been much improved by the American College of Medical Genetics (ACMG) 2015 framework for variant classification, UK Association for Clinical Genomic Science (UK-ACGS) Best Practice Guidelines and subsequent Cancer Variant Interpretation Group UK (CanVIG-UK) consensus
more » ... ) consensus specification for CSGs. However, considerable inconsistency persists regarding practice in the combination of evidence elements. CanVIG-UK is a national subspecialist multidisciplinary network for cancer susceptibility genomic variant interpretation, comprising clinical scientist and clinical geneticist representation from each of the 25 diagnostic laboratories/clinical genetic units across the UK and Republic of Ireland. Here, we summarise the aggregated evidence elements and combinations possible within different variant classification schemata currently employed for CSGs (ACMG, UK-ACGS, CanVIG-UK and ClinGen gene-specific guidance for PTEN, TP53 and CDH1). We present consensus recommendations from CanVIG-UK regarding (1) consistent scoring for combinations of evidence elements using a validated numerical 'exponent score' (2) new combinations of evidence elements constituting likely pathogenic' and 'pathogenic' classification categories, (3) which evidence elements can and cannot be used in combination for specific variant types and (4) classification of variants for which there are evidence elements for both pathogenicity and benignity.
doi:10.17863/cam.60251 fatcat:uqd66gld6jez3dm45oksdegpq4

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing (+200 others)
2019 American Journal of Human Genetics  
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a
more » ... encing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.
doi:10.1016/j.ajhg.2018.11.007 pmid:30580808 pmcid:PMC6323608 fatcat:ndw2kejvtrf4hbtzbpxuyeg4bm

SYNTAX Score and Long-Term Outcomes

Fumiaki Ikeno, Maria Mori Brooks, Kaori Nakagawa, Min-Kyu Kim, Hideaki Kaneda, Yoshiaki Mitsutake, Helen A. Vlachos, Leonard Schwartz, Robert L. Frye, Sheryl F. Kelsey, Katsuhisa Waseda, Mark A. Hlatky (+432 others)
2017 Journal of the American College of Cardiology  
BACKGROUND The extent of coronary disease affects clinical outcomes and may predict the effectiveness of coronary revascularization with either coronary artery bypass graft (CABG) surgery or percutaneous coronary intervention (PCI). The SYNTAX (Synergy Between Percutaneous Coronary Intervention With Taxus and Cardiac Surgery) score quantifies the extent of coronary disease. OBJECTIVES This study sought to determine whether SYNTAX scores predicted outcomes and the effectiveness of coronary
more » ... s of coronary revascularization compared with medical therapy in the BARI-2D (Bypass Angioplasty Revascularization Investigation 2 Diabetes) trial. METHODS Baseline SYNTAX scores were retrospectively calculated for BARI-2D patients without prior revascularization (N ¼ 1,550) by angiographic laboratory investigators masked to patient characteristics and outcomes. The primary outcome was major cardiovascular events (a composite of death, myocardial infarction, and stroke) over 5 years. RESULTS A mid/high SYNTAX score ($23) was associated with a higher risk of major cardiovascular events (hazard ratio: 1.36, confidence interval: 1.07 to 1.75, p ¼ 0.01). Patients in the CABG stratum had significantly higher SYNTAX scores: 36% had mid/high SYNTAX scores compared with 13% in the PCI stratum (p < 0.001). Among patients with low SYNTAX scores (#22), major cardiovascular events did not differ significantly between revascularization and medical therapy, either in the CABG stratum (26.1% vs. 29.9%, p ¼ 0.41) or in the PCI stratum (17.8% vs. 19.2%, p ¼ 0.84). Among patients with mid/high SYNTAX scores, however, major cardiovascular events were lower after revascularization than with medical therapy in the CABG stratum (15.3% vs. 30.3%, p ¼ 0.02), but not in the PCI stratum (35.6% vs. 26.5%, p ¼ 0.12). CONCLUSIONS Among patients with diabetes and stable ischemic heart disease, higher SYNTAX scores predict higher rates of major cardiovascular events and were associated with more favorable outcomes of revascularization compared with medical therapy among patients suitable for CABG. (Bypass Angioplasty Revascularization Investigation in Type 2 Diabetes; NCT00006305) (J Am Coll Cardiol 2017;69:395-403)
doi:10.1016/j.jacc.2016.10.067 pmid:28126156 fatcat:pnrzszwq2fhkbpw7dtkkpfjsmi

Directional dominance on stature and cognition in diverse human populations

Peter K. Joshi, Tonu Esko, Hannele Mattsson, Niina Eklund, Ilaria Gandin, Teresa Nutile, Anne U. Jackson, Claudia Schurmann, Albert V. Smith, Weihua Zhang, Yukinori Okada, Alena Stančáková (+347 others)
2015 Nature  
doi:10.1038/nature14618 pmid:26131930 pmcid:PMC4516141 fatcat:prhe7oiku5fs7po42qv3qcaobe

Influence of Gestational Age at Initiation of Antihypertensive Therapy

Anouk Pels, Ben Willem J. Mol, Joel Singer, Terry Lee, Peter von Dadelszen, Wessel Ganzevoort, Elizabeth Asztalos, Laura A. Magee, Amiram Gafni, Andrée Gruslin, Michael Helewa, Eileen Hutton (+347 others)
2018 Hypertension  
For hypertensive women in CHIPS (Control of Hypertension in Pregnancy Study), we assessed whether the maternal benefits of tight control could be achieved, while minimizing any potentially negative effect on fetal growth, by delaying initiation of antihypertensive therapy until later in pregnancy. For the 981 women with nonsevere, chronic or gestational hypertension randomized to less-tight (target diastolic blood pressure, 100 mm Hg), or tight (target, 85 mm Hg) control, we used mixed-effects
more » ... used mixed-effects logistic regression to examine whether the effect of less-tight (versus tight) control on major outcomes was dependent on gestational age at randomization, adjusting for baseline factors as in the primary analysis and including an interaction term between gestational age at randomization and treatment allocation. Gestational age was considered categorically (quartiles) and continuously (linear or quadratic form), and the optimal functional form selected to provide the best fit to the data based on the Akaike information criterion. Randomization before (but not after) 24 weeks to less-tight (versus tight) control was associated with fewer babies with birth weight <10th centile (Pinteraction=0.005), but more preterm birth (Pinteraction=0.043), and no effect on perinatal death or high-level neonatal care >48 hours (Pinteraction=0.354). For the mother, less-tight (versus tight) control was associated with more severe hypertension at all gestational ages but particularly so before 28 weeks (Pinteraction=0.076). In women with nonsevere, chronic, or gestational hypertension, there seems to be no gestational age at which less-tight (versus tight) control is the preferred management strategy to optimize maternal or perinatal outcomes.
doi:10.1161/hypertensionaha.117.10689 pmid:29686009 pmcid:PMC5959211 fatcat:ce4w4p2mgvh4dm2u4ymw6hr4le

Effects of fluoxetine on functional outcomes after acute stroke (FOCUS): a pragmatic, double-blind, randomised, controlled trial

Martin Dennis, Gillian Mead, John Forbes, Catriona Graham, Maree Hackett, Graeme J Hankey, Allan House, Stephanie Lewis, Erik Lundström, Peter Sandercock, Karen Innes, Carol Williams (+1285 others)
2019 The Lancet  
Results of small trials indicate that fluoxetine might improve functional outcomes after stroke. The FOCUS trial aimed to provide a precise estimate of these effects.
doi:10.1016/s0140-6736(18)32823-x pmid:30528472 pmcid:PMC6336936 fatcat:ltls3mo675h6nhqbsxq46tcfpi

Safety and efficacy of the ChAdOx1 nCoV-19 vaccine (AZD1222) against SARS-CoV-2: an interim analysis of four randomised controlled trials in Brazil, South Africa, and the UK

Merryn Voysey, Sue Ann Costa Clemens, Shabir A Madhi, Lily Y Weckx, Pedro M Folegatti, Parvinder K Aley, Brian Angus, Vicky L Baillie, Shaun L Barnabas, Qasim E Bhorat, Sagida Bibi, Carmen Briner (+751 others)
2020 The Lancet  
A safe and efficacious vaccine against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), if deployed with high coverage, could contribute to the control of the COVID-19 pandemic. We evaluated the safety and efficacy of the ChAdOx1 nCoV-19 vaccine in a pooled interim analysis of four trials. This analysis includes data from four ongoing blinded, randomised, controlled trials done across the UK, Brazil, and South Africa. Participants aged 18 years and older were randomly assigned
more » ... domly assigned (1:1) to ChAdOx1 nCoV-19 vaccine or control (meningococcal group A, C, W, and Y conjugate vaccine or saline). Participants in the ChAdOx1 nCoV-19 group received two doses containing 5 × 1010 viral particles (standard dose; SD/SD cohort); a subset in the UK trial received a half dose as their first dose (low dose) and a standard dose as their second dose (LD/SD cohort). The primary efficacy analysis included symptomatic COVID-19 in seronegative participants with a nucleic acid amplification test-positive swab more than 14 days after a second dose of vaccine. Participants were analysed according to treatment received, with data cutoff on Nov 4, 2020. Vaccine efficacy was calculated as 1 - relative risk derived from a robust Poisson regression model adjusted for age. Studies are registered at ISRCTN89951424 and ClinicalTrials.gov, NCT04324606, NCT04400838, and NCT04444674. Between April 23 and Nov 4, 2020, 23 848 participants were enrolled and 11 636 participants (7548 in the UK, 4088 in Brazil) were included in the interim primary efficacy analysis. In participants who received two standard doses, vaccine efficacy was 62·1% (95% CI 41·0-75·7; 27 [0·6%] of 4440 in the ChAdOx1 nCoV-19 group vs71 [1·6%] of 4455 in the control group) and in participants who received a low dose followed by a standard dose, efficacy was 90·0% (67·4-97·0; three [0·2%] of 1367 vs 30 [2·2%] of 1374; pinteraction=0·010). Overall vaccine efficacy across both groups was 70·4% (95·8% CI 54·8-80·6; 30 [0·5%] of 5807 vs 101 [1·7%] of 5829). From 21 days after the first dose, there were ten cases hospitalised for COVID-19, all in the control arm; two were classified as severe COVID-19, including one death. There were 74 341 person-months of safety follow-up (median 3·4 months, IQR 1·3-4·8): 175 severe adverse events occurred in 168 participants, 84 events in the ChAdOx1 nCoV-19 group and 91 in the control group. Three events were classified as possibly related to a vaccine: one in the ChAdOx1 nCoV-19 group, one in the control group, and one in a participant who remains masked to group allocation. ChAdOx1 nCoV-19 has an acceptable safety profile and has been found to be efficacious against symptomatic COVID-19 in this interim analysis of ongoing clinical trials. UK Research and Innovation, National Institutes for Health Research (NIHR), Coalition for Epidemic Preparedness Innovations, Bill & Melinda Gates Foundation, Lemann Foundation, Rede D'Or, Brava and Telles Foundation, NIHR Oxford Biomedical Research Centre, Thames Valley and South Midland's NIHR Clinical Research Network, and AstraZeneca.
doi:10.1016/s0140-6736(20)32661-1 pmid:33306989 pmcid:PMC7723445 fatcat:xvn3fiw3pvdwdex3jksea3g7fu

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan (+363 others)
2018 American Journal of Human Genetics  
doi:10.1016/j.ajhg.2018.06.001 pmid:29961568 pmcid:PMC6037130 fatcat:6ojtsdq275hqvhryw5trnidn74

Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Clotilde Théry, Kenneth W Witwer, Elena Aikawa,Maria Jose Alcaraz,Johnathon D Anderson,Ramaroson Andriantsitohaina,Anna Antoniou,Tanina Arab,Fabienne Archer,Georgia K Atkin-Smith,D Craig Ayre,Jean-Marie Bach,Daniel Bachurski,Hossein Baharvand,Leonora Balaj,Shawn Baldacchino,Natalie N Bauer,Amy A Baxter,Mary Bebawy,Carla Beckham,Apolonija Bedina Zavec,Abderrahim Benmoussa,Anna C Berardi,Paolo Bergese,Ewa Bielska,Cherie Blenkiron,Sylwia Bobis-Wozowicz,Eric Boilard,Wilfrid Boireau,Antonella Bongiovanni,Francesc E Borràs,Steffi Bosch,Chantal M Boulanger,Xandra Breakefield,Andrew M Breglio,Meadhbh Á Brennan,David R Brigstock,Alain Brisson,Marike LD Broekman,Jacqueline F Bromberg,Paulina Bryl-Górecka,Shilpa Buch,Amy H Buck,Dylan Burger,Sara Busatto,Dominik Buschmann,Benedetta Bussolati,Edit I Buzás,James Bryan Byrd,Giovanni Camussi,David RF Carter,Sarah Caruso,Lawrence W Chamley,Yu-Ting Chang,Chihchen Chen,Shuai Chen,Lesley Cheng,Andrew R Chin,Aled Clayton,Stefano P Clerici,Alex Cocks,Emanuele Cocucci,Robert J Coffey,Anabela Cordeiro-Da-Silva,Yvonne Couch,Frank AW Coumans,Beth Coyle,Rossella Crescitelli,Miria Ferreira Criado,Crislyn D'Souza-Schorey,Saumya Das,Amrita Datta Chaudhuri,Paola De Candia,Eliezer F De Santana Junior,Olivier De Wever,Hernando A Del Portillo,Tanguy Demaret,Sarah Deville,Andrew Devitt,Bert Dhondt,Dolores Di Vizio,Lothar C Dieterich,Vincenza Dolo,Ana Paula Dominguez Rubio,Massimo Dominici,Mauricio R Dourado,Tom AP Driedonks,Filipe V Duarte,Heather M Duncan,Ramon M Eichenberger,Karin Ekström,Samir EL Andaloussi,Celine Elie-Caille,Uta Erdbrügger,Juan M Falcón-Pérez,Farah Fatima,Jason E Fish,Miguel Flores-Bellver,András Försönits,Annie Frelet-Barrand,Fabia Fricke,Gregor Fuhrmann,Susanne Gabrielsson,Ana Gámez-Valero,Chris Gardiner,Kathrin Gärtner,Raphael Gaudin,Yong Song Gho,Bernd Giebel,Caroline Gilbert,Mario Gimona,Ilaria Giusti,Deborah CI Goberdhan,André Görgens,Sharon M Gorski,David W Greening,Julia Christina Gross,Alice Gualerzi,Gopal N Gupta,Dakota Gustafson,Aase Handberg,Reka A Haraszti,Paul Harrison,Hargita Hegyesi,An Hendrix,Andrew F Hill,Fred H Hochberg,Karl F Hoffmann,Beth Holder,Harry Holthofer,Baharak Hosseinkhani,Guoku Hu,Yiyao Huang,Veronica Huber,Stuart Hunt,Ahmed Gamal-Eldin Ibrahim,Tsuneya Ikezu,Jameel M Inal,Mustafa Isin,Alena Ivanova,Hannah K Jackson,Soren Jacobsen,Steven M Jay,Muthuvel Jayachandran,Guido Jenster,Lanzhou Jiang,Suzanne M Johnson,Jennifer C Jones,Ambrose Jong,Tijana Jovanovic-Talisman,Stephanie Jung,Raghu Kalluri,Shin-Ichi Kano,Sukhbir Kaur,Yumi Kawamura,Evan T Keller,Delaram Khamari,Elena Khomyakova,Anastasia Khvorova,Peter Kierulf,Kwang Pyo Kim,Thomas Kislinger,Mikael Klingeborn,David J Klinke II,Miroslaw Kornek,Maja M Kosanović,Árpád Ferenc Kovács,Eva-Maria Krämer-Albers,Susanne Krasemann,Mirja Krause,Igor V Kurochkin,Gina D Kusuma,Sören Kuypers,Saara Laitinen,Scott M Langevin,Lucia R Languino,Joanne Lannigan,Cecilia Lässer,Louise C Laurent,Gregory Lavieu,Elisa Lázaro-Ibáñez,Soazig Le Lay,Myung-Shin Lee,Yi Xin Fiona Lee,Debora S Lemos,Metka Lenassi,Aleksandra Leszczynska,Isaac TS Li,Ke Liao,Sten F Libregts,Erzsebet Ligeti,Rebecca Lim,Sai Kiang Lim,Aija Linē,Karen Linnemannstöns,Alicia Llorente,Catherine A Lombard,Magdalena J Lorenowicz,Ákos M Lörincz,Jan Lötvall,Jason Lovett,Michelle C Lowry,Xavier Loyer,Quan Lu,Barbara Lukomska,Taral R Lunavat,Sybren LN Maas,Harmeet Malhi,Antonio Marcilla,Jacopo Mariani,Javier Mariscal,Elena S Martens-Uzunova,Lorena Martin-Jaular,M Carmen Martinez,Vilma Regina Martins,Mathilde Mathieu,Suresh Mathivanan,Marco Maugeri,Lynda K McGinnis,Mark J McVey,David G Meckes Jr,Katie L Meehan,Inge Mertens,Valentina R Minciacchi,Andreas Möller,Malene Møller Jørgensen,Aizea Morales-Kastresana,Jess Morhayim,François Mullier,Maurizio Muraca,Luca Musante,Veronika Mussack,Dillon C Muth,Kathryn H Myburgh,Tanbir Najrana,Muhammad Nawaz,Irina Nazarenko,Peter Nejsum,Christian Neri,Tommaso Neri,Rienk Nieuwland,Leonardo Nimrichter,John P Nolan,Esther NM Nolte-'T Hoen,Nicole Noren Hooten,Lorraine O'Driscoll,Tina O'Grady,Ana O'Loghlen,Takahiro Ochiya,Martin Olivier,Alberto Ortiz,Luis A Ortiz,Xabier Osteikoetxea,Ole Østergaard,Matias Ostrowski,Jaesung Park,D. Michiel Pegtel,Hector Peinado,Francesca Perut,Michael W Pfaffl,Donald G Phinney,Bartijn CH Pieters,Ryan C Pink,David S Pisetsky,Elke Pogge Von Strandmann,Iva Polakovicova,Ivan KH Poon,Bonita H Powell,Ilaria Prada,Lynn Pulliam,Peter Quesenberry,Annalisa Radeghieri,Robert L Raffai,Stefania Raimondo,Janusz Rak,Marcel I Ramirez,Graça Raposo,Morsi S Rayyan,Neta Regev-Rudzki,Franz L Ricklefs,Paul D Robbins,David D Roberts,Silvia C Rodrigues,Eva Rohde,Sophie Rome,Kasper MA Rouschop,Aurelia Rughetti,Ashley E Russell,Paula Saá,Susmita Sahoo,Edison Salas-Huenuleo,Catherine Sánchez,Julie A Saugstad,Meike J Saul,Raymond M Schiffelers,Raphael Schneider,Tine Hiorth Schøyen,Aaron Scott,Eriomina Shahaj,Shivani Sharma,Olga Shatnyeva,Faezeh Shekari,Ganesh Vilas Shelke,Ashok K Shetty,Kiyotaka Shiba,Pia R-M Siljander,Andreia M Silva,Agata Skowronek,Orman L Snyder II,Rodrigo Pedro Soares,Barbara W Sódar,Carolina Soekmadji,Javier Sotillo,Philip D Stahl,Willem Stoorvogel,Shannon L Stott,Erwin F Strasser,Simon Swift,Hidetoshi Tahara,Muneesh Tewari,Kate Timms,Swasti Tiwari,Rochelle Tixeira,Mercedes Tkach,Wei Seong Toh,Richard Tomasini,Ana Claudia Torrecilhas,Juan Pablo Tosar,Vasilis Toxavidis,Lorena Urbanelli,Pieter Vader,Bas WM Van Balkom,Susanne G Van Der Grein,Jan Van Deun,Martijn JC Van Herwijnen,Kendall Van Keuren-Jensen,Guillaume Van Niel,Martin E Van Royen,Andre J Van Wijnen,M Helena Vasconcelos,Ivan J Vechetti Jr,Tiago D Veit,Laura J Vella,Émilie Velot,Frederik J Verweij,Beate Vestad,Jose L Viñas,Tamás Visnovitz,Krisztina V Vukman,Jessica Wahlgren,Dionysios C Watson,Marca HM Wauben,Alissa Weaver,Jason P Webber,Viktoria Weber,Ann M Wehman,Daniel J Weiss,Joshua A Welsh,Sebastian Wendt,Asa M Wheelock,Zoltán Wiener,Leonie Witte,Joy Wolfram,Angeliki Xagorari,Patricia Xander,Jing Xu,Xiaomei Yan,María Yáñez-Mó,Hang Yin,Yuana Yuana,Valentina Zappulli,Jana Zarubova,Vytautas Žėkas,Jian-Ye Zhang,Zezhou Zhao,Lei Zheng,Alexander R Zheutlin,Antje M Zickler,Pascale Zimmermann,Angela M Zivkovic,Davide Zocco &Ewa K Zuba-Surma
2019 Zenodo  
The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively
more » ... btain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles ("MISEV") guidelines for the field in 2014. We now update these "MISEV2014" guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
doi:10.5281/zenodo.3480056 fatcat:op5k35gvlbglroblapkdkbdnmu

Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines

Clotilde Théry, Kenneth W Witwer, Elena Aikawa, Maria Jose Alcaraz, Johnathon D Anderson, Ramaroson Andriantsitohaina, Anna Antoniou, Tanina Arab, Fabienne Archer, Georgia K Atkin-Smith, D Craig Ayre, Jean-Marie Bach (+370 others)
2018 Journal of Extracellular Vesicles  
The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many other names. However, specific issues arise when working with these entities, whose size and amount often make them difficult to obtain as relatively
more » ... btain as relatively pure preparations, and to characterize properly. The International Society for Extracellular Vesicles (ISEV) proposed Minimal Information for Studies of Extracellular Vesicles ("MISEV") guidelines for the field in 2014. We now update these "MISEV2014" guidelines based on evolution of the collective knowledge in the last four years. An important point to consider is that ascribing a specific function to EVs in general, or to subtypes of EVs, requires reporting of specific information beyond mere description of function in a crude, potentially contaminated, and heterogeneous preparation. For example, claims that exosomes are endowed with exquisite and specific activities remain difficult to support experimentally, given our still limited knowledge of their specific molecular machineries of biogenesis and release, as compared with other biophysically similar EVs. The MISEV2018 guidelines include tables and outlines of suggested protocols and steps to follow to document specific EV-associated functional activities. Finally, a checklist is provided with summaries of key points.
doi:10.1080/20013078.2018.1535750 pmid:30637094 pmcid:PMC6322352 fatcat:zmtq4hdsurf25pu4mdbcahzpvi
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