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UMC Repository: Recent submissions

  • Pelvic floor rehabilitation in children with functional LUTD: does it improve outcome? 
    Nieuwhof-Leppink, Anka J.; van Geen, Frank Jan; van de Putte, Elise M.; Schoenmakers, Marja A.G.C.; de Jong, Tom P.V.M.; Schappin, Renske (Elsevier, 2019-10-01)
    INTRODUCTION: If children do not experience satisfactory relief of lower urinary tract dysfunction (LUTD) complaints after standard urotherapy is provided, other treatment options need to be explored. To date, little is ...
  • A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands 
    Jager, Emmalie A.; Kuijpers, Myrthe M.; Bosch, Annet M.; Mulder, Margot F.; Gozalbo, Estela R.; Visser, Gepke; de Vries, Maaike; Williams, Monique; Waterham, Hans R.; van Spronsen, Francjan J.; Schielen, Peter C.J.I.; Derks, Terry G.J. (Springer Netherlands, 2019-09)
    To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational study was performed of clinical, laboratory and epidemiological ...
  • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers 
    KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators (Springer Nature, 2019-07-16)
    BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a ...
  • Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making 
    Reumkens, Kelly; Tummers, Marly H.E.; Gietel-Habets, Joyce J.G.; van Kuijk, Sander M.J.; Aalfs, Cora M.; van Asperen, Christi J.; Ausems, Margreet G.E.M.; Collée, Margriet; Dommering, Charlotte J.; Kets, C. Marleen; van der Kolk, Lizet E.; Oosterwijk, Jan C.; Tjan-Heijnen, Vivianne C.G.; van der Weijden, Trudy; de Die-Smulders, Christine E.M.; van Osch, Liesbeth A.D.M. (Kluwer Academic/Human Sciences Press Inc., 2019-06-01)
    A nationwide pretest–posttest study was conducted in all clinical genetic centres in the Netherlands, to evaluate the effects of an online decision aid to support persons who have a genetic predisposition to cancer and ...
  • Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies 
    Haijes, Hanneke A.; van Hasselt, Peter M.; Jans, Judith J.M.; Verhoeven-Duif, Nanda M. (Springer Netherlands, 2019-09)
    Despite realizing increased survival rates for propionic acidemia (PA) and methylmalonic acidemia (MMA) patients, the current therapeutic regimen is inadequate for preventing or treating the devastating complications that ...
  • Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications 
    Haijes, Hanneke A.; Jans, Judith J.M.; Tas, Simone Y.; Verhoeven-Duif, Nanda M.; van Hasselt, Peter M. (Springer Netherlands, 2019-09)
    Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. These advances were possible thanks to new ...
  • Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy 
    van Karnebeek, Clara D M; Ramos, Rúben J; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Gleeson, Joseph G; Skrypnyk, Cristina; Brand-Arzamendi, Koroboshka; Karbassi, Farhad; Issa, Mahmoud Y; van der Lee, Robin; Drögemöller, Britt I; Koster, Janet; Rousseau, Justine; Campeau, Philippe M; Wang, Youdong; Cao, Feng; Li, Meng; Ruiter, Jos; Ciapaite, Jolita; Kluijtmans, Leo A J; Willemsen, Michel A A P; Jans, Judith J; Ross, Colin J; Wintjes, Liesbeth T; Rodenburg, Richard J; Huigen, Marleen C D G; Jia, Zhengping; Waterham, Hans R; Wasserman, Wyeth W; Wanders, Ronald J A; Verhoeven-Duif, Nanda M; Zaki, Maha S; Wevers, Ron A (Cell Press, 2019-09-05)
    Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to investigate the disease etiology in four children ...
  • Confounding by indication of the safety of de-escalation in community-acquired pneumonia: A simulation study embedded in a prospective cohort 
    van Heijl, Inger; Schweitzer, Valentijn A; Boel, C H Edwin; Oosterheert, Jan Jelrik; Huijts, Susanne M; Dorigo-Zetsma, Wendelien; van der Linden, Paul D; Bonten, Marc J M; van Werkhoven, Cornelis H (Public Library of Science, 2019-01-01)
    Observational studies have demonstrated that de-escalation of antimicrobial therapy is independently associated with lower mortality. This most probably results from confounding by indication. Reaching clinical stability ...
  • 2019 update of EULAR recommendations for vaccination in adult patients with autoimmune inflammatory rheumatic diseases 
    Furer, Victoria; Rondaan, Christien; Heijstek, Marloes W.; Agmon-Levin, Nancy; Van Assen, Sander; Bijl, Marc; Breedveld, Ferry C.; D'Amelio, Raffaele; Dougados, Maxime; Kapetanovic, Meliha Crnkic; Van Laar, Jacob M.; De Thurah, A.; Landewé, Robert B.M.; Molto, Anna; Mueller-Ladner, Ulf; Schreiber, Karen; Smolar, Leo; Walker, Jim; Warnatz, Klaus; Wulffraat, Nico M.; Elkayam, Ori (Elsevier, 2019-10)
    To update the European League Against Rheumatism (EULAR) recommendations for vaccination in adult patients with autoimmune inflammatory rheumatic diseases (AIIRD) published in 2011. Four systematic literature reviews were ...
  • Risks and benefits of dolutegravir-based antiretroviral drug regimens in sub-Saharan Africa: a modelling study 
    Phillips, Andrew N.; Venter, Francois; Havlir, Diane; Pozniak, Anton; Kuritzkes, Daniel; Wensing, Annemarie; Lundgren, Jens D.; De Luca, Andrea; Pillay, Deenan; Mellors, John; Cambiano, Valentina; Bansi-Matharu, Loveleen; Nakagawa, Fumiyo; Kalua, Thokozani; Jahn, Andreas; Apollo, Tsitsi; Mugurungi, Owen; Clayden, Polly; Gupta, Ravindra K.; Barnabas, Ruanne; Revill, Paul; Cohn, Jennifer; Bertagnolio, Silvia; Calmy, Alexandra (Elsevier, 2019-02-01)
    Background: The integrase inhibitor dolutegravir could have a major role in future antiretroviral therapy (ART) regimens in sub-Saharan Africa because of its high potency and barrier to resistance, good tolerability, and ...
  • Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency 
    Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies (Elsevier, 2019-03-01)
    Background: Biallelic variations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency with eczema, recurrent bacterial and viral infections, and malignancy. Natural disease outcome is dismal, ...
  • Brain Injury in Infants with Critical Congenital Heart Disease: Insights from Two Clinical Cohorts with Different Practice Approaches 
    Claessens, Nathalie H P; Chau, Vann; de Vries, Linda S; Jansen, Nicolaas J G; Au-Young, Stephanie H; Stegeman, Raymond; Blaser, Susan; Shroff, Manohar; Haas, Felix; Marini, Davide; Breur, Johannes M P J; Seed, Mike; Benders, Manon J N L; Miller, Steven P (Mosby Inc., 2019-12)
    Objectives: To determine prevalence and risk factors for brain injury in infants with critical congenital heart disease (CHD) from 2 sites with different practice approaches who were scanned clinically. Study design: ...
  • Progression of liver fibrosis following acute hepatitis C virus infection in HIV-positive MSM 
    Project ATHENA (Lippincott Williams & Wilkins, 2019-04-01)
    BACKGROUND: Whether continued, accelerated liver fibrosis progression occurs following acute hepatitis C virus infection (AHCVI) in HIV-positive MSM is unknown. DESIGN AND METHODS: HIV-positive MSM from the AIDS Therapy ...
  • Predictive Performance of Cardiovascular Disease Risk Prediction Algorithms in People Living With HIV 
    Project ATHENA (Lippincott Williams & Wilkins, 2019-08-15)
    BACKGROUND: People living with HIV (PLWH) experience a higher cardiovascular disease (CVD) risk. Yet, traditional algorithms are often used to estimate CVD risk. We evaluated the performance of 4 commonly used algorithms. ...
  • Longitudinal development of cancer-related fatigue and physical activity in childhood cancer patients 
    Van Dijk-Lokkart, Elisabeth M; Steur, Lindsay M H; Braam, Katja I; Veening, Margreet A; Huisman, Jaap; Takken, Tim; Bierings, Marc; Merks, Johannes H; Van den Heuvel-Eibrink, Marry M; Kaspers, Gertjan J L; Van Dulmen-den Broeder, Eline; Van Litsenburg, Raphaële R L (Wiley-Liss Inc., 2019-12)
    PURPOSE: Cancer-related fatigue is one of the most distressing side effects of childhood cancer treatment. Physical activity can decrease fatigue and has positive effects on other health outcomes. Most research on physical ...
  • Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort 
    van Lint, Freyja H M; Murray, Brittney; Tichnell, Crystal; Zwart, Rob; Amat, Nuria; Lekanne Deprez, Ronald H; Dittmann, Sven; Stallmeyer, Birgit; Calkins, Hugh; van der Smagt, Jasper J; van den Wijngaard, Arthur; Dooijes, Dennis; van der Zwaag, Paul A; Schulze-Bahr, Eric; Judge, Daniel P; Jongbloed, Jan D H; van Tintelen, J Peter; James, Cynthia A (Lippincott Williams & Wilkins, 2019-08)
    BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de ...
  • Reported Adverse Drug Reactions in Children and Adolescents Treated with Antipsychotics 
    Minjon, Lenneke; van den Ban, Els; de Jong, Emma; Souverein, Patrick C; Egberts, Toine C G; Heerdink, Eibert R (Mary Ann Liebert Inc., 2019-03-07)
    OBJECTIVES: To characterize reported adverse drug reactions (ADRs) in children and adolescents treated with antipsychotics and determine differences in relative reporting frequency between genders, age classes, and reporter ...
  • Comparing survival predicted by the diagnosis-specific Graded Prognostic Assessment (DS-GPA) to actual survival in patients with 1-10 brain metastases treated with stereotactic radiosurgery 
    Nagtegaal, Steven; Claes, An; Suijkerbuijk, Karijn; Schramel, Franz; Snijders, Tom; Verhoeff, Joost (Elsevier Ireland Ltd, 2019-09-01)
    BACKGROUND AND PURPOSE: Multiple prognostic models for predicting survival after treatment for brain metastases have been developed. One of them, the diagnosis-specific Graded Prognostic Assessment (DS-GPA), has been ...
  • Non-linear protein binding of phenytoin in clinical practice - development and validation of a mechanistic prediction model 
    Ter Heine, Rob; Kane, Sean P; Huitema, Alwin D R; Krasowski, Matthew D; van Maarseveen, Erik M (Wiley-Blackwell, 2019-10)
    Aims: To individualize treatment, phenytoin doses are adjusted based on free concentrations, either measured or calculated from total concentrations. As a mechanistic protein binding model may more accurately reflect the ...
  • Well-differentiated Pancreatic Neuroendocrine Tumor in a Patient With Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM) 
    Noë, Michaël; Hackeng, Wenzel M; de Leng, Wendy W J; Vergeer, Menno; Vleggaar, Frank P; Morsink, Folkert H M; Wood, Laura D; Hruban, Ralph H; Offerhaus, G Johan A; Brosens, Lodewijk A A (Lippincott Williams & Wilkins, 2019-09)
    Germline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), which is associated with an increased risk for pancreatic ductal adenocarcinoma and melanoma. CDKN2A is somatically inactivated ...