keyword
https://read.qxmd.com/read/36149501/non-adjustable-gravitational-valves-or-adjustable-valves-in-the-treatment-of-hydrocephalus-after-aneurysmal-subarachnoid-hemorrhage-patients
#21
JOURNAL ARTICLE
Sebastian Arts, Jasper Hans van Lieshout, Martine van Bilsen, Cihat Karadag, Thomas Beez, Leonie van den Abbeele, Rene Aquarius, Saman Vinke, Ronald H M A Bartels, Erik J van Lindert, Daniel Hänggi, Hieronymus D Boogaarts
PURPOSE: Hydrocephalus requiring permanent CSF shunting after aneurysmal subarachnoid hemorrhage (aSAH) is frequent. It is unknown which type of valve is optimal. This study evaluates if the revision rate of gravitational differential pressure valves (G-DPVs, GAV® system (B Braun)) (G-DPV) is comparable to adjustable pressure valves (Codman Medos Hakim) (APV) in the treatment of post-aSAH hydrocephalus. METHODS: The use of a gravitational differential pressure valve is placed in direct comparison with an adjustable pressure valve system...
September 23, 2022: Acta Neurochirurgica
https://read.qxmd.com/read/36053898/identifying-trajectories-of-fatigue-in-patients-with-primary-mitochondrial-disease-due-to-the-m-3243a-g-variant
#22
JOURNAL ARTICLE
Inge-Lot Klein, Christianne M Verhaak, Jan A M Smeitink, Paul de Laat, Mirian C H Janssen, José A E Custers
Severe fatigue is a common complaint in patients with primary mitochondrial disease. However, less is known about the course of fatigue over time. This longitudinal observational cohort study of patients with the mitochondrial DNA 3243 A>G variant explored trajectories of fatigue over 2 years, and characteristics of patients within these fatigue trajectories. Fifty-three adult patients treated at the Radboud University Medical Center Nijmegen were included. The majority of the patients reported consistent, severe fatigue (41%), followed by patients with a mixed pattern of severe and mild fatigue (36%)...
August 13, 2022: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/35979676/lymphatic-anomalies-during-lifetime-in-patients-with-noonan-syndrome-retrospective-cohort-study
#23
JOURNAL ARTICLE
Jessie W Swarts, Lotte E R Kleimeier, Erika K S M Leenders, Tuula Rinne, Willemijn M Klein, Jos M T Draaisma
Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype-phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study included patients (n = 115) who were clinically and genetically diagnosed with NS and visited the Noonan expertise Center of the Radboud University Medical Center between January 2015 and March 2021...
August 18, 2022: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/35857852/clinical-validity-of-tumor-informed-circulating-tumor-dna-analysis-in-patients-undergoing-surgery-of-colorectal-metastases
#24
JOURNAL ARTICLE
Lisa S M Hofste, Maartje J Geerlings, Eveline J Kamping, Nadine D H Kouwenhoven, Daniel von Rhein, Erik A M Jansen, Linda M Garms, Iris D Nagtegaal, Rachel S van der Post, Johannes H W de Wilt, Bastiaan R Klarenbeek, Marjolijn J L Ligtenberg
BACKGROUND: Accurate biomarkers to monitor tumor load and response in metastatic colorectal cancer patients undergoing surgery could optimize treatment regimens. OBJECTIVE: This study explores the clinical validity of tumor-informed quantification of circulating tumor DNA in blood using ultra-deep sequencing. DESIGN: Resection specimens from 53 colorectal cancer patients were analyzed for tumor-specific mutations in 15 genes. These mutations were used to measure the presence of circulating tumor DNA in preoperatively collected plasma samples using hybrid capture-based sequencing...
July 12, 2022: Diseases of the Colon and Rectum
https://read.qxmd.com/read/35710456/reanalysis-of-exome-negative-patients-with-rare-disease-a-pragmatic-workflow-for-diagnostic-applications
#25
JOURNAL ARTICLE
Gaby Schobers, Jolanda H Schieving, Helger G Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A A P Willemsen, Lisenka E L M Vissers
BACKGROUND: Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring clinician to discuss new diagnostic opportunities in due time. We performed a systematic study of genetically undiagnosed patients 5 years after their initial negative ES report to determine the efficiency of diverse reanalysis strategies...
June 17, 2022: Genome Medicine
https://read.qxmd.com/read/35638288/a-genome-wide-functional-genomics-approach-uncovers-genetic-determinants-of-immune-phenotypes-in-type-1-diabetes
#26
JOURNAL ARTICLE
Xiaojing Chu, Anna W M Janssen, Hans Koenen, Linzhung Chang, Xuehui He, Irma Joosten, Rinke Stienstra, Yunus Kuijpers, Cisca Wijmenga, Cheng-Jian Xu, Mihai G Netea, Cees J Tack, Yang Li
Background: The large inter-individual variability in immune-cell composition and function determines immune responses in general and susceptibility o immune-mediated diseases in particular. While much has been learned about the genetic variants relevant for type 1 diabetes (T1D), the pathophysiological mechanisms through which these variations exert their effects remain unknown. Methods: Blood samples were collected from 243 patients with T1D of Dutch descent. We applied genetic association analysis on >200 immune-cell traits and >100 cytokine production profiles in response to stimuli measured to identify genetic determinants of immune function, and compared the results obtained in T1D to healthy controls...
May 31, 2022: ELife
https://read.qxmd.com/read/35628062/creating-coherence-based-nurse-planning-in-the-perinatology-care-system
#27
JOURNAL ARTICLE
Windi Winasti, Sylvia G Elkhuizen, Frits van Merode, Hubert Berden
The combination of increasing demand and a shortage of nurses puts pressure on hospital care systems to use their current volume of resources more efficiently and effectively. This study focused on gaining insight into how nurses can be assigned to units in a perinatology care system to balance patient demand with the available nurses. Discrete event simulation was used to evaluate the what-if analysis of nurse flexibility strategies and care system configurations from a case study of the Perinatology Care System at Radboud University Medical Center in Nijmegen, the Netherlands...
May 17, 2022: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/35413117/de-novo-mutations-in-children-born-after-medical-assisted-reproduction
#28
JOURNAL ARTICLE
R M Smits, M J Xavier, M S Oud, G D N Astuti, A M Meijerink, P F de Vries, G S Holt, B K S Alobaidi, L E Batty, G Khazeeva, K Sablauskas, L E L M Vissers, C Gilissen, K Fleischer, D D M Braat, L Ramos, J A Veltman
STUDY QUESTION: Are there more de novo mutations (DNMs) present in the genomes of children born through medical assisted reproduction (MAR) compared to spontaneously conceived children? SUMMARY ANSWER: In this pilot study, no statistically significant difference was observed in the number of DNMs observed in the genomes of MAR children versus spontaneously conceived children. WHAT IS KNOWN ALREADY: DNMs are known to play a major role in sporadic disorders with reduced fitness such as severe developmental disorders, including intellectual disability and epilepsy...
May 30, 2022: Human Reproduction
https://read.qxmd.com/read/35057788/how-an-epa-based-curriculum-supports-professional-identity-formation
#29
JOURNAL ARTICLE
Anne E Bremer, Marjolein H J van de Pol, Roland F J M Laan, Cornelia R M G Fluit
BACKGROUND: Entrustable professional activities (EPAs) are widely used in medical education, and they might be an important incentive to stimulate professional identity formation (PIF) of medical students, by actively encouraging participation in the workplace. The goal of this study was to explore the effects of an EPA-based curriculum on the PIF of medical students in undergraduate curricula. METHODS: In this study at the Radboud University Medical Center in Nijmegen, the Netherlands, the authors interviewed twenty-one medical students in three focus group interviews (November 2019), and conducted a thematic analysis based on both the synthesizing concepts PIF, communities of practice and EPAs, and newly defined themes...
January 20, 2022: BMC Medical Education
https://read.qxmd.com/read/34991584/learning-clinical-reasoning-in-the-workplace-a-student-perspective
#30
JOURNAL ARTICLE
Larissa Ia Ruczynski, Marjolein Hj van de Pol, Bas Jjw Schouwenberg, Roland Fjm Laan, Cornelia Rmg Fluit
INTRODUCTION: Clinical reasoning is a core competency for every physician, as well as one of the most complex skills to learn. This study aims to provide insight into the perspective of learners by asking students about their own experiences with learning clinical reasoning throughout the medical Master's curriculum. METHODS: We adopted a constructivist approach to organise three semi-structured focus groups within the Master's curriculum at the medical school of the Radboud University Medical Center in Nijmegen (Netherlands) between August and December 2019...
January 6, 2022: BMC Medical Education
https://read.qxmd.com/read/34958987/the-association-between-viral-load-and-concurrent-human-papillomavirus-infection-at-the-genital-and-anal-sites-of-young-women-and-the-impact-of-vaccination
#31
JOURNAL ARTICLE
Kahren van Eer, Ihsane Laâbi, Birgit H B van Benthem, Renske D M Steenbergen, Audrey J King
Concurrent genital-anal human papillomavirus (HPV) infections may impose an increased anal cancer risk in women with HPV-related genital lesions. High viral load may facilitate genital-anal HPV concurrence. Genital and anal HPV is reduced by a bivalent HPV16/18 vaccine, yet the effect on concurrent genital-anal HPV remains unclear. This study analyzed viral load in concurrent genital-anal HPV infections, relative to genital-only and anal-only HPV infections and the impact of vaccination in young women. We included 1074 women, who provided both genital and anal swabs...
December 24, 2021: Tumour virus research
https://read.qxmd.com/read/34952772/surgical-accuracy-in-3d-planned-bimaxillary-osteotomies-intraoral-scans-and-plaster-casts-as-digital-dentition-models
#32
JOURNAL ARTICLE
D-M Beek, F Baan, J Liebregts, S Bergé, T Maal, T Xi
The aim of this study was to assess whether the use of intraoral scans (IOS) is an eligible alternative to conventional plaster casts in terms of surgical accuracy of three-dimensionally planned bimaxillary osteotomies. This retrospective cohort study included patients who underwent bimaxillary surgery between 2016 and 2020 in the Department of Oral and Maxillofacial Surgery at Radboud University Medical Center, Nijmegen. Three-dimensional virtual planning was performed with the use of plaster casts in one group and IOS in the other group...
July 2022: International Journal of Oral and Maxillofacial Surgery
https://read.qxmd.com/read/34883306/development-and-external-validation-of-a-prediction-model-for-tube-feeding-dependency-for-at-least-four-weeks-during-chemoradiotherapy-for-head-and-neck-cancer
#33
JOURNAL ARTICLE
Anna C H Willemsen, Annemieke Kok, Laura W J Baijens, Jan Paul de Boer, Remco de Bree, Lot A Devriese, Chantal M L Driessen, Carla M L van Herpen, Frank J P Hoebers, Johannes H A M Kaanders, Rebecca T Karsten, Sander M J van Kuijk, Roy I Lalisang, Arash Navran, Susanne R Pereboom, Annemie M W J Schols, Chris H J Terhaard, Ann Hoeben
BACKGROUND & AIMS: Patients who receive chemoradiotherapy or bioradiotherapy (CRT/BRT) for locally advanced head and neck squamous cell carcinoma (LAHNSCC) often experience high toxicity rates interfering with oral intake, causing tube feeding (TF) dependency. International guidelines recommend gastrostomy insertion when the expected use of TF exceeds 4 weeks. We aimed to develop and externally validate a prediction model to identify patients who need TF ≥ 4 weeks and would benefit from prophylactic gastrostomy insertion...
November 24, 2021: Clinical Nutrition
https://read.qxmd.com/read/34847751/long-term-patency-rate-of-the-translocated-autologous-saphenous-vein-versus-prosthetic-material-in-vascular-access-surgery-for-haemodialysis-and-parenteral-nutrition
#34
JOURNAL ARTICLE
Wouter Driessen, Wilbert van der Meijden, Geert Wanten, Frank van Hoek
OBJECTIVE: To evaluate the long-term patency rate of the arteriovenous angioaccess (AVA) with interposition of either autologous or prosthetic material as a last option for vascular access in the upper extremity. METHODS: This is a retrospective chart review study of all patients who received an AVA with autologous saphenous vein (SV Group, n  = 38) or prosthetic material (PTFE Group, n  = 25) as a conduit from the year 1996 to 2020 in the Radboud University Medical Center (Radboudumc)...
November 30, 2021: Journal of Vascular Access
https://read.qxmd.com/read/34758185/von-willebrand-disease-type-2m-correlation-between-genotype-and-phenotype
#35
JOURNAL ARTICLE
Dominique P M S M Maas, Ferdows Atiq, Nicole M A Blijlevens, Paul P T Brons, Sandy Krouwel, Britta A P Laros-van Gorkom, Frank W G Leebeek, Laurens Nieuwenhuizen, Selene C M Schoormans, Annet Simons, Daniëlle Meijer, Waander L van Heerde, Saskia E M Schols
BACKGROUND: An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is a powerful diagnostic tool and may have an essential role in the diagnostic field of VWD. OBJECTIVES: To unravel the clinical and laboratory heterogeneity of genetically confirmed VWD type 2M patients and to investigate their relationship. METHODS: Patients with a confirmed VWD type 2M genetic variant in the A1 or A3 domain of von Willebrand factor (VWF) and normal or only slightly aberrant VWF multimers were selected from all subjects genotyped at the Radboud university medical center because of a high suspicion of VWD...
February 2022: Journal of Thrombosis and Haemostasis: JTH
https://read.qxmd.com/read/34619382/sars-cov-2-whole-genome-sequencing-using-reverse-complement-pcr-for-easy-fast-and-accurate-outbreak-and-variant-analysis
#36
JOURNAL ARTICLE
Jordy P M Coolen, Femke Wolters, Alma Tostmann, Lenneke F J van Groningen, Chantal P Bleeker-Rovers, Edward C T H Tan, Nannet van der Geest-Blankert, Jeannine L A Hautvast, Joost Hopman, Heiman F L Wertheim, Janette C Rahamat-Langendoen, Marko Storch, Willem J G Melchers
During the course of the SARS-CoV-2 pandemic reports of mutations with effects on spreading and vaccine effectiveness emerged. Large scale mutation analysis using rapid SARS-CoV-2 Whole Genome Sequencing (WGS) is often unavailable but could support public health organizations and hospitals in monitoring transmission and rising levels of mutant strains. Here we report a novel WGS technique for SARS-CoV-2, the EasySeq™ RC-PCR SARS-CoV-2 WGS kit. By applying a reverse complement polymerase chain reaction (RC-PCR), an Illumina library preparation is obtained in a single PCR, thereby saving time, resources and facilitating high-throughput screening...
November 2021: Journal of Clinical Virology
https://read.qxmd.com/read/34560885/cerebrospinal-fluid-levels-of-the-neurotrophic-factor-neuroleukin-are-increased-in-early-alzheimer-s-disease-but-not-in-cerebral-amyloid-angiopathy
#37
JOURNAL ARTICLE
Anna M De Kort, H Bea Kuiperij, Daniel Alcolea, Iris Kersten, Alexandra A M Versleijen, Steven M Greenberg, Erik Stoops, Floris H B M Schreuder, Catharina J M Klijn, Alberto Lleó, Jurgen A H R Claassen, Marcel M Verbeek
BACKGROUND: Neuroleukin (NLK) is a protein with neurotrophic properties and is present in a proportion of senile plaques and amyloid laden vessels. It has been suggested that NLK is part of a neuroprotective response to amyloid β-induced cell death. The aim of our study was to investigate the value of cerebrospinal fluid (CSF) NLK levels as a biomarker of vascular amyloid deposition in patients with cerebral amyloid angiopathy (CAA) and in patients with amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD)...
September 24, 2021: Alzheimer's Research & Therapy
https://read.qxmd.com/read/34508668/effectiveness-and-predictors-of-response-to-somatostatin-analogues-in-patients-with-gastrointestinal-angiodysplasias-a-systematic-review-and-individual-patient-data-meta-analysis
#38
JOURNAL ARTICLE
Lia C M J Goltstein, Karina V Grooteman, Alba Rocco, Grainne Holleran, Santiago Frago, Paulo S Salgueiro, Thomas Aparicio, Giuseppe Scaglione, Stefania Chetcuti Zammit, Raul Prados-Manzano, Robert Benamouzig, Gerardo Nardone, Deirdre McNamara, Mourad Benallaoua, Spyridon Michopoulos, Reena Sidhu, Wietske Kievit, Joost P H Drenth, Erwin J M van Geenen
BACKGROUND: Gastrointestinal angiodysplasias are vascular malformations that often cause red blood cell transfusion-dependent anaemia. Several studies suggest that somatostatin analogues might decrease rebleeding rates, but the true effect size is unknown. We therefore aimed to investigate the efficacy of somatostatin analogues on red blood cell transfusion requirements of patients with gastrointestinal angiodysplasias and to identify subgroups that might benefit the most from somatostatin analogue therapy...
November 2021: Lancet. Gastroenterology & Hepatology
https://read.qxmd.com/read/34432713/risk-of-dementia-and-structural-brain-changes-following-nonneurological-infections-during-9-year-follow-up
#39
JOURNAL ARTICLE
Annemieke M Peters van Ton, Esther M C Meijer-van Leijsen, Mayra I Bergkamp, Ewald M Bronkhorst, Peter Pickkers, Frank-Erik de Leeuw, Anil M Tuladhar, Wilson F Abdo
OBJECTIVES: Given the strong association between systemic inflammation and cognitive decline, we aimed to determine whether nonneurologic infections are associated with accelerated cognitive decline and structural changes in the brain using pre- and post-infection neuropsychologic assessments and repeated brain MR images. DESIGN: Additional analysis of the prospective observational Radboud University Nijmegen Diffusion Tensor and Magnetic Resonance Cohort study...
April 1, 2022: Critical Care Medicine
https://read.qxmd.com/read/33975065/protein-and-energy-intake-comparison-of-two-food-services-in-patients-during-hemodialysis-treatment
#40
JOURNAL ARTICLE
Demi P E Schaminee, Catharina M Kosters, Frank H O Verbeek, Femke Atsma, Manon G A van den Berg
OBJECTIVES: Radboud University Medical Center introduced a new food service (NFS) to the hemodialysis (HD) department, which contains several small protein-rich foods and adheres to the Dutch dietary HD guidelines. The objectives were to investigate whether the NFS improves protein and energy intake compared with the old food service (OFS), the number of symptomatic hypotensive events (SHEs), and patient satisfaction. METHODS: This was a prospective cohort (pilot) study of 25 adult patients with HD at the Radboud University Medical Center between August 2018 and February 2019...
October 2021: Nutrition
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