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Showing 13 to 24 of 73 entries
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Overweight and Obesity Are Associated With Acute Kidney Injury and Acute Respiratory Distress Syndrome, but Not With Increased Mortality in Hospitalized COVID-19 Patients: A Retrospective Cohort Study.

Frontiers in endocrinology

van Son J, Oussaada SM, Şekercan A, Beudel M, Dongelmans DA, van Assen S, Eland IA, Moeniralam HS, Dormans TPJ, van Kalkeren CAJ, Douma RA, Rusch D, Simsek S, Liu L, Kootte RS, Wyers CE, IJzerman RG, van den Bergh JP, Stehouwer CDA, Nieuwdorp M, Ter Horst KW, Serlie MJ.
PMID: 34970220
Front Endocrinol (Lausanne). 2021 Dec 14;12:747732. doi: 10.3389/fendo.2021.747732. eCollection 2021.

OBJECTIVE: To evaluate the association between overweight and obesity on the clinical course and outcomes in patients hospitalized with COVID-19.DESIGN: Retrospective, observational cohort study.METHODS: We performed a multicenter, retrospective, observational cohort study of hospitalized COVID-19 patients to evaluate the...

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine

Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE.
PMID: 33874999
Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6.

BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding...

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Genetics in medicine : official journal of the American College of Medical Genetics

Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM.
PMID: 32934367
Genet Med. 2021 Oct;23(10):2024. doi: 10.1038/s41436-020-00966-1.

No abstract available.

Cardiac Magnetic Resonance Tissue Characterization in Ischemic Cardiomyopathy.

Journal of thoracic imaging

Muscogiuri G, Ricci F, Scafuri S, Guglielmo M, Baggiano A, De Stasio V, Di Donna C, Spiritigliozzi L, Chiocchi M, Lee SJ, De Cecco CN, van Assen M, Rabbat MG, Pontone G.
PMID: 34524203
J Thorac Imaging. 2022 Jan 01;37(1):2-16. doi: 10.1097/RTI.0000000000000621.

Ischemic cardiomyopathy (ICM) is one of the most common causes of congestive heart failure. In patients with ICM, tissue characterization with cardiac magnetic resonance imaging (CMR) allows for evaluation of myocardial abnormalities in acute and chronic settings. Myocardial edema,...

Satisfaction, functional outcomes and predictors in hip arthroscopy: a cohort study.

Hip international : the journal of clinical and experimental research on hip pathology and therapy

van der Valk MR, Wolterbeek N, van Assen T, Veen MR.
PMID: 33032461
Hip Int. 2020 Oct 08;1120700020963363. doi: 10.1177/1120700020963363. Epub 2020 Oct 08.

INTRODUCTION: Hip arthroscopy is not always successful, leading to high rates of total hip arthroplasty (THA) after arthroscopy. The aim of this study was to identify risk factors for THA, revision arthroscopy and low patient satisfaction and to compare...

Individually shortened duration versus standard duration of elastic compression therapy for prevention of post-thrombotic syndrome: a cost-effectiveness analysis.

The Lancet. Haematology

Amin EE, Ten Cate-Hoek AJ, Bouman AC, Meijer K, Tick L, Middeldorp S, Mostard G, Ten Wolde M, van den Heiligenberg S, van Wissen S, van de Poel M, Villalta S, Serné E, Otten HM, Klappe E, Prandoni P, Prins MH, Ten Cate H, Joore MA.
PMID: 30314712
Lancet Haematol. 2018 Nov;5(11):e512-e519. doi: 10.1016/S2352-3026(18)30151-0. Epub 2018 Oct 09.

BACKGROUND: The IDEAL DVT study showed that it was safe to shorten the duration of elastic compression therapy on an individualised basis after deep vein thrombosis for prevention of post-thrombotic syndrome. In this study, we assessed the cost-effectiveness of...

Beneficial Effect of BH.

JIMD reports

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM.
PMID: 29380259
JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30.

BACKGROUND: Biallelic mutations in DNAJC12 were recently identified as a BHCASE: A boy with developmental delay, an extrapyramidal movement disorder, and persistently elevated plasma phenylalanine levels was diagnosed with DNAJC12 deficiency at the age of 15 years. Diagnosis was...

Trial & Guidelines.

Hernia : the journal of hernias and abdominal wall surgery

Roumen R, Boelens O, Van Assen T, Scheltinga M, Wijerathne S, Agarwal N, Ramzi A, Liem D, Lomanto D, Simon T, Buechler MW, Koeckerling F, Siawash M, de Jager-Kieviet JW, Roumen RM, Scheltinga MR, Lincourt A, Augenstein V, Kercher K, Heniford B, Andresen K, Burcharth J, Hupfeld L, Fonnes S, Rothman JP, Winther D, Deigaard SL, Sørensen FS, Bjerg J, Therkildsen R, Errebo M, Hauge D, Rosenberg J, Fischer J, Fox J, Basta M, Kovach S, East B, Krejci T, Hoch J, Jorgensen LN, Kullman E, Tollens T, Nienhuijs S, Doerhoff C, Muzi MG, Hopson S, Velanovich V, Muysoms F, Leblanc K, Schwartz M, Berrevoet F, Holihan J, Nguyen DH, Flores-Gonzalez JR, Alawadi ZM, Nguyen MT, Kao LS, Liang MK, Hassan S, Raslan C, Henley N, Van Veenendaal N, Poelman MM, Van den Heuvel B, Schreurs H, Dwars B, Bonjer HJ, Kaufmann R, Halm JA, Nieuwenhuizen J, Klitsie P, Eker HH, van Geldere D, Simons MP, Van't Riet M, Jeekel J, Lange JF, Pathania B.
PMID: 26518859
Hernia. 2015 Apr;19:S43-9. doi: 10.1007/BF03355325.

No abstract available.

Insights into electrolytic stabilization with weak polarization as treatment for archaeological copper objects.

Analytical and bioanalytical chemistry

Adriaens A, Dowsett M, Leyssens K, Van Gasse B.
PMID: 17047938
Anal Bioanal Chem. 2007 Feb;387(3):861-8. doi: 10.1007/s00216-006-0835-1. Epub 2006 Oct 18.

Immersion of corroded copper artefacts in dilute sodium sesquicarbonate solution is a well-recognized stabilization technique--especially in the conservation of objects recovered from marine environments and therefore saturated with chlorides. Here we describe three linked experiments performed to investigate a...

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

JIMD reports

de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, van Gassen KL, van Hasselt PM.
PMID: 26915364
JIMD Rep. 2016;30:15-22. doi: 10.1007/8904_2016_531. Epub 2016 Feb 27.

BACKGROUND: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria...

Comparison of the QuantiFERON-TB® Gold Plus on LIAISON® XL and T-SPOT.TB for the diagnosis of latent Mycobacterium tuberculosis infection in a low tuberculosis incidence population.

Diagnostic microbiology and infectious disease

Heireman L, Bruynseels P, Camps K, Geysels D, Huyghe E, André E, Van Gasse N.
PMID: 34954453
Diagn Microbiol Infect Dis. 2021 Nov 29;102(3):115613. doi: 10.1016/j.diagmicrobio.2021.115613. Epub 2021 Nov 29.

The current study compared the QuantiFERON-TB® Gold Plus on LIAISON® XL to the T-SPOT.TB for the diagnosis of latent Mycobacterium tuberculosis infection on 125 patient samples. A high agreement of qualitative results (90%) was observed between both methods with...

The c.1A > C start codon mutation in .

JIMD reports

Kuper WFE, van Alfen C, van Eck L, de Man SA, Willemsen MH, van Gassen KLI, Losekoot M, van Hasselt PM.
PMID: 32154056
JIMD Rep. 2020 Feb 07;52(1):23-27. doi: 10.1002/jmd2.12097. eCollection 2020 Mar.

BACKGROUND: CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CASE SERIES: We present three patients with an identical CONCLUSIONS: Contrasting our initial expectations, patients with...

Showing 13 to 24 of 73 entries