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Now showing items 19321-19340 of 40729

Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5

Dominguez, Fernando; Zorio, Esther; Jimenez-Jaimez, Juan; Salguero-Bodes, Rafael; Zwart, Robert; Gonzalez-Lopez, Esther; Molina, Pilar; Bermúdez-Jiménez, Francisco; Delgado, Juan F.; Braza-Boïls, Aitana; Bornstein, Belen; Toquero, Jorge; Segovia, Javier; Van Tintelen, J. Peter; Lara-Pezzi, Enrique; Garcia-Pavia, Pablo (Elsevier, 2020-06)

Background: Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene ...
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Nabais Sá, Maria J.; El Tekle, Geniver; de Brouwer, Arjan P.M.; Sawyer, Sarah L.; del Gaudio, Daniela; Parker, Michael J.; Kanani, Farah; van den Boogaard, Marie José H.; van Gassen, Koen; Van Allen, Margot I.; Wierenga, Klaas; Purcarin, Gabriela; Elias, Ellen Roy; Begtrup, Amber; Keller-Ramey, Jennifer; Bernasocchi, Tiziano; van de Wiel, Laurens; Gilissen, Christian; Venselaar, Hanka; Pfundt, Rolph; Vissers, Lisenka E.L.M.; Theurillat, Jean Philippe P.; de Vries, Bert B.A. (Cell Press, 2020-03-05)

Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we ...
Lower respiratory tract infection in the community: associations between viral aetiology and illness course

Vos, L. M.; Bruyndonckx, R.; Zuithoff, N. P.A.; Little, P.; Oosterheert, J. J.; Broekhuizen, B. D.L.; Lammens, C.; Loens, K.; Viveen, M.; Butler, C. C.; Crook, D.; Zlateva, K.; Goossens, H.; Claas, E. C.J.; Ieven, M.; Van Loon, A. M.; Verheij, T. J.M.; Coenjaerts, F. E.J.; GRACE Consortium (Elsevier, 2021-01)

Objectives: This study determined associations between respiratory viruses and subsequent illness course in primary care adult patients presenting with acute cough and/or suspected lower respiratory tract infection. Methods: ...
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome

Reichert, Sara C.; Li, Rachel; A. Turner, Scott; van Jaarsveld, Richard H.; Massink, Maarten P.G.; van den Boogaard, Marie José H.; del Toro, Mireia; Rodríguez-Palmero, Agustí; Fourcade, Stéphane; Schlüter, Agatha; Planas-Serra, Laura; Pujol, Aurora; Iascone, Maria; Maitz, Silvia; Loong, Lucy; Stewart, Helen; De Franco, Elisa; Ellard, Sian; Frank, Julie; Lewandowski, Raymond (Wiley-Blackwell, 2020-07-01)

Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in ...
The Predictive Value of Early-Life Trauma, Psychopathy, and the Testosterone-Cortisol Ratio for Impulsive Aggression Problems in Veterans

Korpel, Pauline O J; Varkevisser, Tim; Hoppenbrouwers, Sylco S; Van Honk, Jack; Geuze, Elbert (SAGE Publications Inc., 2020-05-23)

Background: In this study, we examined whether early-life trauma, psychopathy, and the testosterone/cortisol ratio predicted impulsive aggression problems in veterans. Method: A sample of 49 male veterans with impulsive ...
No Time-Dependent Effects of Psychosocial Stress on Fear Contextualization and Generalization: A Randomized-Controlled Study With Healthy Participants

Sep, Milou S C; Gorter, Rosalie; van Ast, Vanessa A; Joëls, Marian; Geuze, Elbert (SAGE Publications Inc., 2020-05-23)

The formation of context-dependent fear memories (fear contextualization) can aid the recognition of danger in new, similar, situations. Overgeneralization of fear is often seen as hallmark of anxiety and trauma-related ...
Radiogenomic Analysis of Breast Cancer by Linking MRI Phenotypes with Tumor Gene Expression

Bismeijer, Tycho; van der Velden, Bas H M; Canisius, Sander; Lips, Esther H; Loo, Claudette E; Viergever, Max A; Wesseling, Jelle; Gilhuijs, Kenneth G A; Wessels, Lodewyk F A (Radiological Society of North America Inc., 2020-08)

Background: Better understanding of the molecular biology associated with MRI phenotypes may aid in the diagnosis and treatment of breast cancer. Purpose: To discover the associations between MRI phenotypes of breast cancer ...
Prognostic value of radiological recurrence patterns in ovarian cancer

Roze, Joline F; Veldhuis, Wouter B; Hoogendam, Jacob P; Verheijen, René H M; Scholten, Rob J P M; Zweemer, Ronald P (Academic Press Inc., 2020-06)

Objective: To study the prognostic value of CT assessed recurrence patterns on survival outcomes in women with epithelial ovarian cancer. Methods: CT scans were systematically re-evaluated on predefined anatomical sites ...
Whole Genome Analysis of Ovarian Granulosa Cell Tumors Reveals Tumor Heterogeneity and a High-Grade TP53-Specific Subgroup

Roze, Joline; Monroe, Glen; Kutzera, Joachim; Groeneweg, Jolijn; Stelloo, Ellen; Paijens, Sterre; Nijman, Hans; Meurs, Hannah van; Lonkhuijzen, Luc van; Piek, Jurgen; Lok, Christianne; Jonges, Geertruida; Witteveen, Petronella; Verheijen, René; Haaften, Gijs van; Zweemer, Ronald (Multidisciplinary Digital Publishing Institute (MDPI), 2020-05-21)

Adult granulosa cell tumors (AGCTs) harbor a somatic FOXL2 c.402C>G mutation in ~95% of cases and are mainly surgically removed due to limited systemic treatment effect. In this study, potentially targetable genomic ...
Transparent Reporting of Multivariable Prediction Models in Journal and Conference Abstracts: TRIPOD for Abstracts

Heus, Pauline; Reitsma, Johannes B; Collins, Gary S; Damen, Johanna A A G; Scholten, Rob J P M; Altman, Douglas G; Moons, Karel G M; Hooft, Lotty (American College of Physicians, 2020-07-07)

Clear and informative reporting in titles and abstracts is essential to help readers and reviewers identify potentially relevant studies and decide whether to read the full text. Although the TRIPOD (Transparent Reporting ...
Appraisals and coping mediate the relationship between resilience and distress among significant others of persons with spinal cord injury or acquired brain injury: a cross-sectional study

Scholten, Eline W M; Simon, Julia D H P; van Diemen, Tijn; Hillebregt, Chantal F; Ketelaar, Marjolijn; Woldendorp, Kees Hein; Osterthun, Rutger; Visser-Meily, Johanna M A; Post, Marcel W M (BioMed Central Ltd., 2020-05-20)

Background: Many significant others of persons with serious conditions like spinal cord injury (SCI) and acquired brain injury (ABI) report high levels of psychological distress. In line with the stress-coping model, the ...
Focus on autonomy: Using 'skills for growing up' in pediatric rehabilitation care

Hilberink, Sander R; Grootoonk, Anneke; Ketelaar, Marjolijn; Vos, Ieteke; Cornet, Liselotte; Roebroeck, Marij E (IOS Press, 2020)

PURPOSE: Youth with disabilities face challenges regarding achieving autonomy. The 'Skills for Growing Up' tool was adapted for use in Dutch pediatric rehabilitation (SGU-D) to support development of autonomy. This study ...
Prediction of drug exposure in critically ill encephalopathic neonates treated with therapeutic hypothermia based on a pooled population pharmacokinetic analysis of seven drugs and five metabolites

Favié, Laurent M A; de Haan, Timo R; Bijleveld, Yuma A; Rademaker, Carin M A; Egberts, Toine C G; Nuytemans, Debbie H G M; Mathôt, Ron A A; Groenendaal, Floris; Huitema, Alwin D R (Wiley-Blackwell, 2020-11)

Drug dosing in encephalopathic neonates treated with therapeutic hypothermia is challenging; exposure is dependent on body size and maturation but can also be influenced by factors related to disease and treatment. A better ...
Advances in adjuvant therapy of biliary tract cancer: an overview of current clinical evidence based on phase II and III trials

Belkouz, A; Wilmink, J W; Haj Mohammad, N; Hagendoorn, J; de Vos-Geelen, J; Dejong, C H C; Homs, M Y V; Groot Koerkamp, B; van Gulik, T M; van Oijen, M G H; Punt, C J A; Klümpen, H (Elsevier Ireland Ltd, 2020-07)

Patients with biliary tract cancer (BTC) have a high recurrence rate after complete surgical resection. To reduce the risk of recurrence and to improve survival, several chemotherapeutic agents that have shown to be active ...
Contact isolation versus standard precautions to decrease acquisition of extended-spectrum β-lactamase-producing Enterobacterales in non-critical care wards: a cluster-randomised crossover trial

Maechler, Friederike; Schwab, Frank; Hansen, Sonja; Fankhauser, Carolina; Harbarth, Stephan; Huttner, Benedikt D.; Diaz-Agero, Cristina; Lopez, Nieves; Canton, Rafael; Ruiz-Garbajosa, Patricia; Blok, Hetty; Bonten, Marc J.; Kloosterman, Fieke; Schotsman, Joost; Cooper, Ben S.; Behnke, Michael; Golembus, Jennifer; Kola, Axel; Gastmeier, Petra (Elsevier Limited, 2020-05)

Background The effectiveness of contact isolation for decreasing the spread of extended-spectrum β-lactamase-producing Enterobacterales (ESBL-E) has been questioned. The aim of this study was to establish the benefits of ...
Short-course aminoglycosides as adjunctive empirical therapy in patients with Gram-negative bloodstream infection, a cohort study

Deelen, J W Timotëus; Rottier, Wouter C; Buiting, Anton G M; Dorigo-Zetsma, J Wendelien; Kluytmans, Jan A J W; van der Linden, Paul D; Thijsen, Steven F T; Vlaminckx, Bart J M; Weersink, Annemarie J L; Ammerlaan, Heidi S M; Bonten, Marc J M; van Werkhoven, Cornelis H (Elsevier, 2021-02)

Objective: Short-course aminoglycosides as adjunctive empirical therapy to β-lactams in patients with a clinical suspicion of sepsis are used to broaden antibiotic susceptibility coverage and to enhance bacterial killing. ...
Impact of antimicrobial de-escalation on mortality: a literature review of study methodology and recommendations for observational studies

Van Heijl, Inger; Schweitzer, Valentijn A.; van der Linden, Paul D.; Bonten, Marc J. M.; Van Werkhoven, Cornelis H. (Taylor and Francis Ltd., 2020-05-03)

Introduction: The safety of de-escalation of empirical antimicrobial therapy is largely based on observational data, with many reporting protective effects on mortality. As there is no plausible biological explanation for ...
Epidemiology of Escherichia coli Bacteremia: A Systematic Literature Review

Bonten, Marc; Johnson, James R; van den Biggelaar, Anita H J; Georgalis, Leonidas; Geurtsen, Jeroen; de Palacios, Patricia Ibarra; Gravenstein, Stefan; Verstraeten, Thomas; Hermans, Peter; Poolman, Jan T (Oxford University Press, 2021-04-01)

BACKGROUND: Escherichia coli is the most common cause of bacteremia in high-income countries. To enable the development and implementation of effective prevention strategies, a better understanding of the current epidemiology ...
Trained Immunity: a Tool for Reducing Susceptibility to and the Severity of SARS-CoV-2 Infection

Netea, Mihai G; Giamarellos-Bourboulis, Evangelos J; Domínguez-Andrés, Jorge; Curtis, Nigel; van Crevel, Reinout; van de Veerdonk, Frank L; Bonten, Marc (Elsevier, 2020-05-28)

SARS-CoV-2 infection is mild in the majority of individuals but progresses into severe pneumonia in a small proportion of patients. The increased susceptibility to severe disease in the elderly and individuals with ...
Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3KLHL12 Ubiquitin Ligase Complex

Yuniati, Laurensia; Lauriola, Angela; Gerritsen, Manouk; Abreu, Susana; Ni, Eric; Tesoriero, Chiara; Onireti, Jacob O.; Low, Teck Yew; Heck, Albert J.R.; Vettori, Andrea; Cardozo, Timothy; Guardavaccaro, Daniele (Cell Press, 2020-05-19)

Yuniati et al. perform a proteomic screen to identify E3 substrates that are ubiquitylated at cellular membranes and find that the ER-shaping protein Lunapark is ubiquitylated by the CRL3KLHL12 ubiquitin ligase. They show ...

Now showing items 19321-19340 of 40729