keyword
https://read.qxmd.com/read/38695688/smad4-mosaicism-in-juvenile-polyposis-essential-contribution-of-somatic-analysis-in-diagnosis
#1
Sabine Vautier, Jacques Mauillon, Nathalie Parodi, Jacqueline Bou, Edwige Kasper, Sandrine Manase, Claude Houdayer, Stéphanie Baert-Desurmont
Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps in the gastrointestinal tract, associated with pathogenic variants of BMPR1A and SMAD4. We present the description of SMAD4 mosaicism in a 30-year-old man who had caecum adenocarcinoma, 11 juvenile colon polyps and epistaxis since childhood. We conducted NGS polyposis and CRC panel analysis on DNA extracted from two polyps, revealing a likely pathogenic SMAD4 variant: NM_005359.5:c. 1600C>T, p.(Gln534*). This variant was then identified at a very low frequency on blood and normal colonic tissue, by targeted visualization of previously obtained NGS data...
May 2, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38695181/dissociation-of-heh-in-the-electronic-ground-state-using-shaped-mid-ir-laser-pulses
#2
JOURNAL ARTICLE
Kasper L Effersø, Niels E Henriksen
Inspired by recent experimental work, we study the control over the laser-driven dissociation of the HeH+ ion in the electronic ground state. Shaped pulses with peak intensities below 1012 W cm-2 are obtained by phase modulation of high-intensity transform-limited femtosecond pulses. We investigate the performance of pulse shaping for a number of shaping parameters targeting both vibrational and rotational excitation pathways. The numerical results show that pulse shaping is most effective at low pulse energies and broad spectral bandwidths, while intense transform-limited pulses with narrow spectral bandwidths maximize dissociation...
May 2, 2024: Physical Chemistry Chemical Physics: PCCP
https://read.qxmd.com/read/38692681/effect-of-neurosurgical-residency-programs-on-neurosurgical-patient-outcomes-in-a-single-health-care-system-a-cohort-study
#3
JOURNAL ARTICLE
Shervin Taslimi, Susan B Brogly, Wenbin Li, Jillian Rodger, Ekkehard M Kasper, Douglas J Cook, Ron Levy
BACKGROUND: The evidence on the benefits and drawbacks of involving neurosurgical residents in the care of patients who undergo neurosurgical procedures is heterogeneous. We assessed the effect of neurosurgical residency programs on the outcomes of such patients in a large single-payer public health care system. METHODS: Ten population-based cohorts of adult patients in Ontario who received neurosurgical care from 2013 to 2017 were identified on the basis of procedural codes, and the cohorts were followed in administrative health data sources...
2024: Canadian Journal of Surgery. Journal Canadien de Chirurgie
https://read.qxmd.com/read/38690653/counteracting-angiotensinogen-small-interfering-rna-mediated-antihypertensive-effects-with-reversir
#4
JOURNAL ARTICLE
Dien Ye, Edwyn O Cruz-López, Richard van Veghel, Ingrid M Garrelds, Anne Kasper, Kelly Wassarman, Ho-Chou Tu, Ivan Zlatev, A H Jan Danser
BACKGROUND: Ssmall-interfering RNA (siRNA) targeting hepatic AGT (angiotensinogen) mRNA depletes AGT, lowering blood pressure for up to 6 months. However, certain situations may require a rapid angiotensin increase. The reverse siRNA silencing, RVR technology is a potential approach to counteract siRNA effects. METHODS: Spontaneously hypertensive rats received 10 mg/kg AGT siRNA, and 3 weeks later were given AGT-RVR (1, 10, or 20 mg/kg). One week after AGT-RVR dosing, a redose of AGT siRNA assessed its post-AGT-RVR effectiveness for 2 weeks...
May 1, 2024: Hypertension
https://read.qxmd.com/read/38690309/infection-related-mortality-and-infection-control-practices-in-childhood-acute-myeloid-leukemia-in-a-limited-resource-setting-experience-with-the-indonesian-national-protocol
#5
JOURNAL ARTICLE
Eddy Supriyadi, Ignatius Purwanto, Zeni Widiastuti, Inggar Armytasari, Salsabila Sandi, Bambang Ardianto, Gertjan J L Kaspers
BACKGROUND: In resource-limited settings, addressing infections remains a substantial challenge in the management of children with Acute Myeloid Leukemia (AML). In Indonesia, infection-related mortality (IRM) is thought to be high compared to high-income countries. However, there has been no previous study of infection profile and IRM in Indonesian patients with AML. OBJECTIVE: This study aimed to describe infections and IRM in children with AML treated according to the Indonesian National AML protocol and to describe the implementation of infection control practices in resource-limited settings...
2024: Belitung nursing journal
https://read.qxmd.com/read/38688981/development-of-a-novel-high-throughput-culture-system-for-hypoxic-3d-hydrogel-cell-culture
#6
JOURNAL ARTICLE
Dominik Egger, Luisa Baier, Julia Moldaschl, Manfred Taschner, Volker Lorber, Cornelia Kasper
Animal models lack physiologic relevance to the human system which results in low clinical translation of results derived from animal testing. Besides spheroids or organoids, hydrogel-based 3D in vitro models are used to mimic the in vivo situation increasing the relevance while reducing animal testing. However, to establish hydrogel-based 3D models in applications such as drug development or personalized medicine, high-throughput culture systems are required. Furthermore, the integration of oxygen-reduced (hypoxic) conditions has become increasingly important to establish more physiologic culture models...
April 30, 2024: Scientific Reports
https://read.qxmd.com/read/38687181/longitudinal-evaluation-of-sars-cov-2-t-cell-immunity-over-2-years-following-vaccination-and-infection
#7
JOURNAL ARTICLE
Anna Karina Juhl, Lisa Loksø Dietz, Ole Schmeltz Søgaard, Joanne Reekie, Henrik Nielsen, Isik Somuncu Johansen, Thomas Benfield, Lothar Wiese, Nina Breinholt Stærke, Tomas Østergaard Jensen, Rikke Olesen, Kasper Iversen, Kamille Fogh, Jacob Bodilsen, Lone Wulff Madsen, Susan Olaf Lindvig, Dorthe Raben, Sidsel Dahl Andersen, Astrid Korning Hvidt, Signe Rode Andreasen, Eva Anna Marianne Baerends, Jens Lundgren, Lars Østergaard, Martin Tolstrup
BACKGROUND: Within a year of the SARS-CoV-2 pandemic, vaccines inducing a robust humoral and cellular immune response were implemented worldwide. However, emergence of novel variants and waning vaccine induced immunity led to implementation of additional vaccine boosters. METHODS: This prospective study evaluated the temporal profile of cellular and serological responses in a cohort of 639 SARS-CoV-2 vaccinated participants, of whom a large proportion experienced a SARS-CoV-2 infection...
April 30, 2024: Journal of Infectious Diseases
https://read.qxmd.com/read/38682967/particle-dynamics-in-a-diblock-copolymer-based-dodecagonal-quasicrystal-and-its-periodic-approximant-by-x-ray-photon-correlation-spectroscopy
#8
JOURNAL ARTICLE
Andreas J Mueller, Aaron P Lindsay, Ronald M Lewis, Qingteng Zhang, Suresh Narayanan, Timothy P Lodge, Mahesh K Mahanthappa, Frank S Bates
Temperature-dependent x-ray photon correlation spectroscopy (XPCS) measurements are reported for a binary diblock-copolymer blend that self-assembles into an aperiodic dodecagonal quasicrystal and a periodic Frank-Kasper σ phase approximant. The measured structural relaxation times are Bragg scattering wavevector independent and are 5 times faster in the dodecagonal quasicrystal than the σ phase, with minimal temperature dependence. The underlying dynamical relaxations are ascribed to differences in particle motion at the grain boundaries within each of these tetrahedrally close-packed assemblies...
April 12, 2024: Physical Review Letters
https://read.qxmd.com/read/38681781/influence-of-low-density-lipoprotein-cholesterol-levels-on-nsaid-associated-cardiovascular-risks-after-myocardial-infarction-a-population-based-cohort-study
#9
JOURNAL ARTICLE
Mohab Basem, Kasper Bonnesen, Lars Pedersen, Henrik Toft Sørensen, Morten Schmidt
AIM: To examine whether low-density lipoprotein cholesterol (LDL-C) levels influence the cardiovascular risk associated with non-aspirin non-steroidal anti-inflammatory drug (NSAID) use after myocardial infarction (MI). METHODS: Using Danish health registries, we conducted a population-based cohort study of all adult patients with first-time MI during 2010-2020 with an LDL-C value before discharge. Based on the latest LDL-C value, we categorized patients into a low and a high LDL-C group (<3...
2024: Clinical Epidemiology
https://read.qxmd.com/read/38679325/resting-state-changes-in-aging-and-parkinson-s-disease-are-shaped-by-underlying-neurotransmission-a-normative-modeling-study
#10
JOURNAL ARTICLE
Jan Kasper, Svenja Caspers, Leon D Lotter, Felix Hoffstaedter, Simon B Eickhoff, Juergen Dukart
BACKGROUND: Human healthy and pathological aging is linked to a steady decline in brain resting state activity and connectivity measures. The neurophysiological mechanisms underlying these changes remain poorly understood. METHODS: Making use of recent developments in normative modeling and availability of in vivo maps for various neurochemical systems, we test in the UK Biobank cohort (N=25917) if and how age- and Parkinson's disease related resting state changes in commonly applied local and global activity and connectivity measures co-localize with underlying neurotransmitter systems...
April 26, 2024: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://read.qxmd.com/read/38678986/individual-and-neighborhood-level-socioeconomic-deprivation-and-risk-of-epilepsy-after-traumatic-brain-injury-a-register-based-cohort-study
#11
JOURNAL ARTICLE
Kasper Lolk, Julie Werenberg Dreier, Jakob Christensen
No abstract text is available yet for this article.
April 27, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38678879/the-clinical-perspective-on-late-onset-depression-in-european-real-world-treatment-settings
#12
JOURNAL ARTICLE
Lucie Bartova, Gernot Fugger, Markus Dold, Alexander Kautzky, Isabella Bairhuber, Philipp Kloimstein, Giuseppe Fanelli, Raffaella Zanardi, Ana Weidenauer, Dan Rujescu, Daniel Souery, Julien Mendlewicz, Joseph Zohar, Stuart Montgomery, Chiara Fabbri, Alessandro Serretti, Siegfried Kasper
The clinical phenotype of the so-called late-onset depression (LOD) affecting up to 30% of older adults and yielding heterogeneous manifestations concerning symptoms, severity and course has not been fully elucidated yet. This European, cross-sectional, non-interventional, naturalistic multicenter study systematically investigated socio-demographic and clinical correlates of early-onset depression (EOD) and LOD (age of onset ≥ 50 years) in 1410 adult in- and outpatients of both sexes receiving adequate psychopharmacotherapy...
April 27, 2024: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://read.qxmd.com/read/38672795/are-gamers-prone-to-ethrombosis-during-long-gaming-sessions
#13
JOURNAL ARTICLE
Kasper B Krarup, Henrik B Krarup, Morten Mørk, Søren Lundbye-Christensen, Aase Handberg, Hien T T Nguyen, Inge S Pedersen, Søren R Kristensen
During the last two decades, several cases of venous thrombosis (VTE) after a prolonged period at a computer have been described, denominated as "eThrombosis". Video gaming on a computer has become very popular and can be a social activity where several players gather to play against each other or in a virtual environment for several days ("LAN (i.e., L ocal A rea N etwork) parties") where the participants are sedentary and consuming calorie-rich food items. The aim of this study was to investigate potential coagulation activation during a 42 h LAN party...
April 18, 2024: Life
https://read.qxmd.com/read/38662240/perspectives-in-treatment-resistant-depression-esketamine-and-electroconvulsive-therapy
#14
REVIEW
Pia Baldinger-Melich, Marie Spies, Ina Bozic, Siegfried Kasper, Dan Rujescu, Richard Frey
Modern electroconvulsive therapy (ECT) and the approval of nasal esketamine for clinical use have significantly improved the approach to treatment-resistant depression (TRD), which is defined as non-response to at least two different courses of antidepressants with verified adherence to treatment, adequate dosage, and duration of treatment. The goal of this literature review is to present the newest evidence regarding efficacy and safety. Furthermore, we aim to provide an overview of future perspectives in this field of research, for example, regarding structural and molecular effects...
April 17, 2024: Wiener Klinische Wochenschrift
https://read.qxmd.com/read/38658746/phylogenomics-and-the-rise-of-the-angiosperms
#15
JOURNAL ARTICLE
Alexandre R Zuntini, Tom Carruthers, Olivier Maurin, Paul C Bailey, Kevin Leempoel, Grace E Brewer, Niroshini Epitawalage, Elaine Françoso, Berta Gallego-Paramo, Catherine McGinnie, Raquel Negrão, Shyamali R Roy, Lalita Simpson, Eduardo Toledo Romero, Vanessa M A Barber, Laura Botigué, James J Clarkson, Robyn S Cowan, Steven Dodsworth, Matthew G Johnson, Jan T Kim, Lisa Pokorny, Norman J Wickett, Guilherme M Antar, Lucinda DeBolt, Karime Gutierrez, Kasper P Hendriks, Alina Hoewener, Ai-Qun Hu, Elizabeth M Joyce, Izai A B S Kikuchi, Isabel Larridon, Drew A Larson, Elton John de Lírio, Jing-Xia Liu, Panagiota Malakasi, Natalia A S Przelomska, Toral Shah, Juan Viruel, Theodore R Allnutt, Gabriel K Ameka, Rose L Andrew, Marc S Appelhans, Montserrat Arista, María Jesús Ariza, Juan Arroyo, Watchara Arthan, Julien B Bachelier, C Donovan Bailey, Helen F Barnes, Matthew D Barrett, Russell L Barrett, Randall J Bayer, Michael J Bayly, Ed Biffin, Nicky Biggs, Joanne L Birch, Diego Bogarín, Renata Borosova, Alexander M C Bowles, Peter C Boyce, Gemma L C Bramley, Marie Briggs, Linda Broadhurst, Gillian K Brown, Jeremy J Bruhl, Anne Bruneau, Sven Buerki, Edie Burns, Margaret Byrne, Stuart Cable, Ainsley Calladine, Martin W Callmander, Ángela Cano, David J Cantrill, Warren M Cardinal-McTeague, Mónica M Carlsen, Abigail J A Carruthers, Alejandra de Castro Mateo, Mark W Chase, Lars W Chatrou, Martin Cheek, Shilin Chen, Maarten J M Christenhusz, Pascal-Antoine Christin, Mark A Clements, Skye C Coffey, John G Conran, Xavier Cornejo, Thomas L P Couvreur, Ian D Cowie, Laszlo Csiba, Iain Darbyshire, Gerrit Davidse, Nina M J Davies, Aaron P Davis, Kor-Jent van Dijk, Stephen R Downie, Marco F Duretto, Melvin R Duvall, Sara L Edwards, Urs Eggli, Roy H J Erkens, Marcial Escudero, Manuel de la Estrella, Federico Fabriani, Michael F Fay, Paola de L Ferreira, Sarah Z Ficinski, Rachael M Fowler, Sue Frisby, Lin Fu, Tim Fulcher, Mercè Galbany-Casals, Elliot M Gardner, Dmitry A German, Augusto Giaretta, Marc Gibernau, Lynn J Gillespie, Cynthia C González, David J Goyder, Sean W Graham, Aurélie Grall, Laura Green, Bee F Gunn, Diego G Gutiérrez, Jan Hackel, Thomas Haevermans, Anna Haigh, Jocelyn C Hall, Tony Hall, Melissa J Harrison, Sebastian A Hatt, Oriane Hidalgo, Trevor R Hodkinson, Gareth D Holmes, Helen C F Hopkins, Christopher J Jackson, Shelley A James, Richard W Jobson, Gudrun Kadereit, Imalka M Kahandawala, Kent Kainulainen, Masahiro Kato, Elizabeth A Kellogg, Graham J King, Beata Klejevskaja, Bente B Klitgaard, Ronell R Klopper, Sandra Knapp, Marcus A Koch, James H Leebens-Mack, Frederic Lens, Christine J Leon, Étienne Léveillé-Bourret, Gwilym P Lewis, De-Zhu Li, Lan Li, Sigrid Liede-Schumann, Tatyana Livshultz, David Lorence, Meng Lu, Patricia Lu-Irving, Jaquelini Luber, Eve J Lucas, Manuel Luján, Mabel Lum, Terry D Macfarlane, Carlos Magdalena, Vidal F Mansano, Lizo E Masters, Simon J Mayo, Kristina McColl, Angela J McDonnell, Andrew E McDougall, Todd G B McLay, Hannah McPherson, Rosa I Meneses, Vincent S F T Merckx, Fabián A Michelangeli, John D Mitchell, Alexandre K Monro, Michael J Moore, Taryn L Mueller, Klaus Mummenhoff, Jérôme Munzinger, Priscilla Muriel, Daniel J Murphy, Katharina Nargar, Lars Nauheimer, Francis J Nge, Reto Nyffeler, Andrés Orejuela, Edgardo M Ortiz, Luis Palazzesi, Ariane Luna Peixoto, Susan K Pell, Jaume Pellicer, Darin S Penneys, Oscar A Perez-Escobar, Claes Persson, Marc Pignal, Yohan Pillon, José R Pirani, Gregory M Plunkett, Robyn F Powell, Ghillean T Prance, Carmen Puglisi, Ming Qin, Richard K Rabeler, Paul E J Rees, Matthew Renner, Eric H Roalson, Michele Rodda, Zachary S Rogers, Saba Rokni, Rolf Rutishauser, Miguel F de Salas, Hanno Schaefer, Rowan J Schley, Alexander Schmidt-Lebuhn, Alison Shapcott, Ihsan Al-Shehbaz, Kelly A Shepherd, Mark P Simmons, André O Simões, Ana Rita G Simões, Michelle Siros, Eric C Smidt, James F Smith, Neil Snow, Douglas E Soltis, Pamela S Soltis, Robert J Soreng, Cynthia A Sothers, Julian R Starr, Peter F Stevens, Shannon C K Straub, Lena Struwe, Jennifer M Taylor, Ian R H Telford, Andrew H Thornhill, Ifeanna Tooth, Anna Trias-Blasi, Frank Udovicic, Timothy M A Utteridge, Jose C Del Valle, G Anthony Verboom, Helen P Vonow, Maria S Vorontsova, Jurriaan M de Vos, Noor Al-Wattar, Michelle Waycott, Cassiano A D Welker, Adam J White, Jan J Wieringa, Luis T Williamson, Trevor C Wilson, Sin Yeng Wong, Lisa A Woods, Roseina Woods, Stuart Worboys, Martin Xanthos, Ya Yang, Yu-Xiao Zhang, Meng-Yuan Zhou, Sue Zmarzty, Fernando O Zuloaga, Alexandre Antonelli, Sidonie Bellot, Darren M Crayn, Olwen M Grace, Paul J Kersey, Ilia J Leitch, Hervé Sauquet, Stephen A Smith, Wolf L Eiserhardt, Félix Forest, William J Baker
Angiosperms are the cornerstone of most terrestrial ecosystems and human livelihoods1,2 . A robust understanding of angiosperm evolution is required to explain their rise to ecological dominance. So far, the angiosperm tree of life has been determined primarily by means of analyses of the plastid genome3,4 . Many studies have drawn on this foundational work, such as classification and first insights into angiosperm diversification since their Mesozoic origins5-7 . However, the limited and biased sampling of both taxa and genomes undermines confidence in the tree and its implications...
April 24, 2024: Nature
https://read.qxmd.com/read/38658553/correlation-between-two-distant-quasiparticles-in-separate-superconducting-islands-mediated-by-a-single-spin
#16
JOURNAL ARTICLE
Juan Carlos Estrada Saldaña, Alexandros Vekris, Luka Pavešič, Rok Žitko, Kasper Grove-Rasmussen, Jesper Nygård
Controlled coupling between distant particles is a key requirement for the implementation of quantum information technologies. A promising platform are hybrid systems of semiconducting quantum dots coupled to superconducting islands, where the tunability of the dots is combined with the macroscopic coherence of the islands to produce states with non-local correlations, e.g. in Cooper pair splitters. Electrons in hybrid quantum dots are typically not amenable to long-distance spin alignment as they tend to be screened into a localized singlet state by bound superconducting quasiparticles...
April 24, 2024: Nature Communications
https://read.qxmd.com/read/38652034/disentangling-hydroxynitrile-glucoside-biosynthesis-in-a-barley-hordeum-vulgare-metabolon-provides-access-to-elite-malting-barleys-for-ethyl-carbamate-free-whisky-production
#17
JOURNAL ARTICLE
Morten E Jørgensen, Kelly Houston, Hans Jørgen L Jørgensen, Hanne C Thomsen, Linda Tekaat, Camilla Timmermann Krogh, Silas B Mellor, Katarzyna Birch Braune, Mette L Damm, Pai Rosager Pedas, Cynthia Voss, Magnus Wohlfahrt Rasmussen, Kasper Nielsen, Birgitte Skadhauge, Mohammed S Motawia, Birger Lindberg Møller, Christoph Dockter, Mette Sørensen
Barley produces several specialized metabolites, including five α-, β-, and γ-hydroxynitrile glucosides (HNGs). In malting barley, presence of the α-HNG epiheterodendrin gives rise to undesired formation of ethyl carbamate in the beverage production, especially after distilling. Metabolite-GWAS identified QTLs and underlying gene candidates possibly involved in the control of the relative and absolute content of HNGs, including an undescribed MATE transporter. By screening 325 genetically diverse barley accessions, we discovered three H...
April 23, 2024: Plant Journal
https://read.qxmd.com/read/38649086/the-association-of-recent-simulation-training-and-clinical-experience-of-team-leaders-with-cardiopulmonary-resuscitation-quality-during-in-hospital-cardiac-arrest
#18
JOURNAL ARTICLE
Johannes Wittig, Bo Løfgren, Rasmus P Nielsen, Rikke Højbjerg, Kristian Krogh, Hans Kirkegaard, Robert A Berg, Vinay M Nadkarni, Kasper G Lauridsen
OBJECTIVE: We aimed to investigate the association of recent team leader simulation training (<6 months) and years of clinical experience (≥4 years) with chest compression quality during in-hospital cardiac arrest (IHCA). METHODS: This cohort study of IHCA in four Danish hospitals included cases with data on chest compression quality and team leader characteristics. We assessed the impact of recent simulation training and experienced team leaders on longest chest compression pause duration (primary outcome), chest compression fraction (CCF), and chest compression rates within guideline recommendations using mixed effects models...
April 20, 2024: Resuscitation
https://read.qxmd.com/read/38648203/unveiling-the-temporal-aspect-of-mri-tattoo-reactions-a-prospective-evaluation-of-a-newly-acquired-tattoo-with-multiple-mri-scans
#19
JOURNAL ARTICLE
Kasper Køhler Alsing, Helle Hjorth Johannesen, Nina Løth Mårtensson, Paul Joseph Kempen, Marie Karen Tracy Hong Lin, Klaus Qvortrup, Rasmus Hvass Hansen
BACKGROUND Over the past 30 years, painful reactions during magnetic resonance imaging (MRI) in tattooed individuals have been sporadically reported. These complications manifest as burning pain in tattooed skin areas, occasionally with swelling and redness, often leading to termination of the scanning. The exact cause is unclear, but iron oxide pigments in permanent make-up or elements in carbon black tattoos may play a role. Additionally, factors like tattoo age, design, and color may influence reactions...
April 22, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38647381/solvent-isotherms-and-structural-transitions-in-nanoparticle-superlattice-assembly
#20
JOURNAL ARTICLE
Leandro L Missoni, Alex Upah, Gervasio Zaldívar, Alex Travesset, Mario Tagliazucchi
We introduce a Molecular Theory for Compressible Fluids (MOLT-CF) that enables us to compute free energies and other thermodynamic functions for nanoparticle superlattices with any solvent content, including the dry limit. Quantitative agreement is observed between MOLT-CF and united-atom molecular dynamics simulations performed to assess the reliability and precision of the theory. Among other predictions, MOLT-CF shows that the amount of solvent within the superlattice decreases approximately linearly with its vapor pressure and that in the late stages of drying, solvent-filled voids form at lattice interstitials...
April 22, 2024: Nano Letters
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