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Multicenter benchmarking of short and long read wet lab protocols for clinical viral metagenomics KU Leuven

Lize Cuypers, Lies Laenen, Bert Vanmechelen, Piet Maes
Metagenomics is gradually being implemented for diagnosing infectious diseases. However, in-depth protocol comparisons for viral detection have been limited to individual sets of experimental workflows and laboratories. In this study, we present a benchmark of metagenomics protocols used in clinical diagnostic laboratories initiated by the European Society for Clinical Virology (ESCV) Network on NGS (ENNGS). A mock viral reference panel was ...

Type 1 diabetes prevention clinical trial simulator: Case reports of model-informed drug development tool KU Leuven

Yannick Hoffert
Clinical trials seeking to delay or prevent the onset of type 1 diabetes (T1D) face a series of pragmatic challenges. Despite more than 100 years since the discovery of insulin, teplizumab remains the only FDA-approved therapy to delay progression from Stage 2 to Stage 3 T1D. To increase the efficiency of clinical trials seeking this goal, our project sought to inform T1D clinical trial designs by developing a disease progression model-based ...

Research autopsy programmes in oncology: shared experience from 14 centres across the world KU Leuven

Wouter Van Den Bogaert, Beppe Floris, Christine Desmedt
While there is a great clinical need to understand the biology of metastatic cancer in order to treat it more effectively, research is hampered by limited sample availability. Research autopsy programmes can crucially advance the field through synchronous, extensive, and high-volume sample collection. However, it remains an underused strategy in translational research. Via an extensive questionnaire, we collected information on the study design, ...

An interpretative phenomenological analysis of the lived experience of people with multimorbidity in low- and middle-income countries Instituut voor Tropische Geneeskunde Universiteit Antwerpen

PB Tran, A Ali, R Ayesha, JR Boehnke, VJ Pinkney-Atkinson
People living with multimorbidity (PLWMM) have multiple needs and require long-term personalised care, which necessitates an integrated people-centred approach to healthcare. However, people-centred care may risk being a buzzword in global health and cannot be achieved unless we consider and prioritise the lived experience of the people themselves. This study captures the lived experiences of PLWMM in low- and middle-income countries (LMICs) by ...

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders Universiteit Antwerpen Vlaams Instituut voor Biotechnologie

Noortje Zonnekein, Georgios Koutsis, Silvia Amor Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, et al.
Purpose: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. Methods: The patients underwent extensive clinical examinations. Exome sequencing was done in 4 affected individuals. The ...

Association between exposure to multiple air pollutants, transportation noise and cause-specific mortality in adults in Switzerland Vrije Universiteit Brussel

Danielle Vienneau, Massimo Stafoggia, Sophia Rodopoulou, Jie Chen, Richard W. Atkinson, Mariska Bauwelinck, Jochem Klompmaker, Bente M. Oftedal, Zorana Jovanovic Andersen, Nicole A.H. Janssen, et al.

Background: Long-term exposure to air pollution and noise is detrimental to health; but studies that evaluated both remain limited. This study explores associations with natural and cause-specific mortality for a range of air pollutants and transportation noise. Methods: Over 4 million adults in Switzerland were followed from 2000 to 2014. Exposure to PM2.5, PM2.5 components (Cu, Fe, S and Zn), NO2, black carbon (BC) and ozone (O3) from ...

The role of local therapy in the treatment of solitary melanoma progression on immune checkpoint inhibition Vrije Universiteit Brussel

Clara Allayous

INTRODUCTION: In patients with metastatic melanoma, progression of a single tumour lesion (solitary progression) after response to immune checkpoint inhibition (ICI) is increasingly treated with local therapy. We evaluated the role of local therapy for solitary progression in melanoma.

PATIENTS AND METHODS: Patients with metastatic melanoma treated with ICI between 2010 and 2019 with solitary progression as first progressive event ...

Network integration and modelling of dynamic drug responses at multi-omics levels KU Leuven

Nathalie Selevsek, Florian Caiment, Ramona Nudischer, Hans Gmuender, Irina Agarkova, Francis L Atkinson, Ivo Bachmann, Vanessa Baier, Gal Barel, Chris Bauer, et al.
Uncovering cellular responses from heterogeneous genomic data is crucial for molecular medicine in particular for drug safety. This can be realized by integrating the molecular activities in networks of interacting proteins. As proof-of-concept we challenge network modeling with time-resolved proteome, transcriptome and methylome measurements in iPSC-derived human 3D cardiac microtissues to elucidate adverse mechanisms of anthracycline ...

Effectiveness of dabrafenib in the treatment of patients with BRAF V600-mutated metastatic melanoma in a Named Patient Program Vrije Universiteit Brussel

Salvador Martin-Algarra, Rebecca Hinshelwood, Soizick Mesnage, Jonathan Cebon, Massimo Aglietta, Bart Neyns, Vanna Chiarion Sileni, Colin R Lindsay

Given the approval of dabrafenib in patients with BRAF-mutant metastatic melanoma, a better understanding of treatment patterns and clinical outcomes with dabrafenib in a clinical setting is warranted. We performed a retrospective chart review of patients who received dabrafenib in a compassionate use setting through the Named Patient Program (DESCRIBE I study) during December 2010-August 2013 in Europe, New Zealand and Australia. Of the 331 ...

Separating fetal and maternal placenta circulations using multiparametric MRI KU Leuven

Jan Deprest, Tom Vercauteren
PURPOSE: The placenta is a vital organ for the exchange of oxygen, nutrients, and waste products between fetus and mother. The placenta may suffer from several pathologies, which affect this fetal-maternal exchange, thus the flow properties of the placenta are of interest in determining the course of pregnancy. In this work, we propose a new multiparametric model for placental tissue signal in MRI. METHODS: We describe a method that separates ...