10 results match your criteria: "Location Vrije Universiteit (VU) Medical Center and Academic Medical Centre (AMC)[Affiliation]"

Article Synopsis
  • The study focuses on abdominal aortic aneurysm (AAA), a condition where the aorta weakens and dilates in the abdomen, aiming to understand the specific cellular mechanisms involved by analyzing proteins in vascular smooth muscle cells (VSMC) from AAA patients versus healthy donors.
  • Using advanced proteomic techniques, researchers found significant differences in proteins linked to extracellular matrix remodeling, energy metabolism, and muscle contractility between AAA patients and healthy individuals.
  • The research revealed changes in phosphorylation patterns affecting structural proteins like those involved in the actin cytoskeleton and signaling pathways, suggesting specific kinases like NUAK1 and MAPK7 may play crucial roles in AAA development.
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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.

Neurology

September 2024

From the Department of Child Neurology (D.H.S., M.S.v.d.K., N.I.W.), Emma's Children's Hospital, Amsterdam UMC location Vrije Universiteit; Amsterdam Leukodystrophy Center (D.H.S., M.S.v.d.K., N.I.W.), Amsterdam Neuroscience, Cellular & Molecular Mechanisms; Medicine for Society (D.H.S., S.v.d.B., N.R., C.E.M.H.), Platform at Amsterdam UMC location University of Amsterdam; Department of Endocrinology and Metabolism (S.v.d.B., A.B., M.R.D., N.R., C.E.M.H.), Amsterdam UMC location University of Amsterdam; National Health Care Institute (Zorginstituut Nederland) (L.T.), Diemen, the Netherlands; Division of Child Neurology (L.A.A.), Children's Hospital of Philadelphia, PA; Institute of Systems Motor Science (T.B.), CBBM, Universität of Lübeck; Centre of Rare Diseases (T.B.), University Hospital Schleswig Holstein, Lübeck, Germany; Division of Metabolic Diseases (A.B.), Department of Pediatrics, Emma Childrens' Hospital, Amsterdam UMC location University of Amsterdam, the Netherlands; National Health Care Institute RIZIV-INAMI (M.v.d.C.), Brussels, Belgium; VKS (H.D.), Dutch Patient Organization for Metabolic Diseases, Zwolle; United for Metabolic Diseases (UMD) (H.D.), Amsterdam, the Netherlands; International Niemann-Pick Disease Registry (C.D.), Washington, Tyne & Wear, United Kingdom; VSOP-Patient Alliance for Rare and Genetic Diseases (M.H.E.D.), Soest, the Netherlands; Institute for Medical Genetics and Applied Genomics (H.G.), University of Tübingen; Centre for Rare Disease (H.G.), University Hospital Tübingen, Germany; Yaya foundation for 4H Leukodystrophy (V.G.), Minneapolis, MN; Orphanet (T.H.), INSERM US14 Rare Disease Platform, Paris, France; Department of Neurology (G.U.H.), LMU University Hospital, Ludwig-Maximilians-Universität (LMU), Munich; German Center for Neurodegenerative Diseases e.V. (DZNE) (G.U.H., T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (G.U.H.), Germany; Department of Pediatrics (H.v.d.H.), Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children's Hospital, Rotterdam; European Medicines Agency (C.J., K.P.), Amsterdam; Medicines Evaluation Board (C.J.), Utrecht; Department of Endocrinology and Metabolism (M.L.), Amsterdam UMC, Amsterdam Gastroenterology Endocrinology Metabolism (AGEM) Research Institute, University of Amsterdam, the Netherlands; Canadian Agency for Drugs and Health Technology Technologies Agendcy in Health (CADTH) (L.J.L.), Ottawa, Ontario, Canada; CHDI Management, Inc. (E.N.), the company that manages the scientific activities of CHDI Foundation, Inc., New York, NY; National Health Care Institute (M.N., W.G.G.), Diemen, the Netherlands; Department of Neurology (T.K.), University of Bonn, Germany; Department of Integrative Neurophysiology (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, the Netherlands; European Commission (A.P.), Joint Research Centre (JRC), Ispra, Italy; Patient Advocate Organization 'Vereniging HCHWA-d' (HCHWA-D Association) (S.v.R.), the Netherlands; European Leukodystrophies Association (E.F.S.-V.), Paris, France; Medical BioSciences Department (B.d.S.V.), Radboud University Medical Center, Nijmegen; and WHO Collaborating Centre for Pharmaceutical Policy and Regulation (W.G.G.), Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht University, the Netherlands.

Article Synopsis
  • Progress in genetic diagnosis and orphan drug legislation has led to new therapies for rare neurogenetic diseases (RNDs), but challenges remain in academia, regulation, and finances.
  • The study aims to create a practical framework for developing patient registries that address these challenges and enhance outcomes in care, research, and drug development for RNDs.
  • A comprehensive approach combining literature review, interviews with existing registries, and feedback from various stakeholders was used to ensure the framework meets diverse needs and emphasizes key principles like accessible, independent, and trustworthy data governance.
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Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci.

medRxiv

March 2024

Department of Community Health and Epidemiology and Faculty of Computer Science, Dalhousie University, Halifax, NS, Canada.

Article Synopsis
  • Obsessive-compulsive disorder (OCD) affects about 1% of people and has a strong genetic component, but previous studies have not fully explained its genetic causes or biological mechanisms.
  • A large genome-wide association study (GWAS) analyzed data from over 53,000 OCD cases and over 2 million control participants, identifying 30 significant genetic markers related to OCD and suggesting a 6.7% heritability from SNPs.
  • The research also found 249 candidate risk genes linked to OCD, particularly in specific brain regions, and showed genetic correlations with various psychiatric disorders, laying the groundwork for further studies and potential treatments.
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Nutrition and oral health are closely related, especially in older adults in whom poor nutrition may lead to oral microbial perturbations, exacerbating poor oral health. In a 6-month randomized controlled trial, we evaluated the effects on oral microbiota and on oral health of dietary advice aimed at increasing protein intake to ≥1.2 g/kg adjusted body weight/day (g/kg aBW/d) in community-dwelling older adults with low habitual protein intake (<1.

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Safety of Accelerated Infliximab Infusions in Children With Inflammatory Bowel Disease: A Retrospective Cohort Study.

J Pediatr Gastroenterol Nutr

September 2023

From the Department of Paediatric Gastroenterology and Nutrition, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, The Netherlands.

Objectives: Accelerated infliximab (IFX) infusions have shown to be safe in adults with inflammatory bowel disease (IBD), but data on its safety in pediatric IBD is limited. This study aimed to assess the incidence and timing of infusion reactions (IR) in children with IBD who received accelerated (1-h) versus standard (2-h) IFX infusions.

Methods: This retrospective cohort study included IBD patients 4-18 years of age and initiated IFX between January 2006 and November 2021 at Amsterdam University Medical Centre, location Academic Medical Centre (AMC) and VU Medical Centre (VUmc).

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Diagnostic stewardship for blood cultures in the emergency department: A multicenter validation and prospective evaluation of a machine learning prediction tool.

EBioMedicine

August 2022

Section General Internal Medicine, Department of Internal Medicine, Amsterdam Public Health Research Institute, Amsterdam UMC, location VU University Medical Center, De Boelelaan 1118, 1081 HZ Amsterdam, the Netherlands. Electronic address:

Background: Overuse of blood cultures (BCs) in emergency departments (EDs) leads to low yields and high numbers of contaminated cultures, accompanied by increased diagnostics, antibiotic usage, prolonged hospitalization, and mortality. We aimed to simplify and validate a recently developed machine learning model to help safely withhold BC testing in low-risk patients.

Methods: We extracted data from the electronic health records (EHR) for 44.

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Background: Older adults are particularly prone to the development of poor appetite and undernutrition. Possibly, this is partly due to the aged gut microbiota. We aimed to evaluate the gut microbiota in relation to both poor appetite and undernutrition in community-dwelling older adults.

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Background: To prepare nursing students to become critical, autonomous members of the workforce, an agreement among stakeholders on how this can be achieved in the clinical setting is needed. However, a critical discussion of the clinical learning process in relation to actual and desirable outcomes is lacking in the nursing education literature. This study aimed to map conceptions of the desired process and outcomes of clinical learning among stakeholders involved in undergraduate clinical nursing education.

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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 Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants.

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Exploring resting state connectivity in patients with psychotic depression.

PLoS One

September 2019

Department of Old age Psychiatry, GGZ inGeest Specialized Mental Health Care and Amsterdam University Medical center, location VU University medical center (VUmc), Amsterdam, the Netherlands.

Background: Severe depression is associated with high morbidity and mortality. Neural network dysfunction may contribute to disease mechanisms underlying different clinical subtypes. Here, we apply resting-state functional magnetic resonance imaging based measures of brain connectivity to investigate network dysfunction in severely depressed in-patients with and without psychotic symptoms.

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