Publications by authors named "Mertz K"

Tumour content plays a pivotal role in directing the bioinformatic analysis of molecular profiles such as copy number variation (CNV). In clinical application, tumour purity estimation (TPE) is achieved either through visual pathological review [conventional pathology (CP)] or the deconvolution of molecular data. While CP provides a direct measurement, it demonstrates modest reproducibility and lacks standardisation.

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  • The study investigates how cancer cells influence the fitness of surrounding tumor microenvironment (TME) cells through a mechanism involving a long non-coding RNA called Tu-Stroma, which alters the expression of Flower isoforms, impacting their growth advantage.
  • The expression of Flower Win isoforms in cancer cells enhances their dominance over TME cells that express Flower Lose isoforms, leading to reduced fitness in the TME.
  • Targeting Flower proteins with a humanized monoclonal antibody in mice has shown promising results, significantly reducing cancer growth and metastasis while improving survival rates and protecting organs from potential lesions.
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  • T cell-based immunotherapies are effective against cancer but are limited by cancer cells' ability to escape immune detection; recent research is shifting focus to natural killer (NK) cells, which can target tumors directly.
  • Newly developed methods have been used to screen for compounds that improve NK cell functionality, particularly in dysfunctional cells found in the tumor microenvironment.
  • A promising compound, a C
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In the last two decades, next-generation sequencing (NGS) has facilitated enormous progress in cancer medicine, in both diagnosis and treatment. However, the usefulness of NGS in older cancer patients is unclear. To determine the role of NGS in older cancer patients, we retrospectively assessed demographic, clinicopathologic, and disease-specific data from 100 randomly selected cancer patients (any subtype/stage) who underwent NGS testing in 2020 at our institution and compared the treatment outcomes (progression-free survival [PFS] and overall survival [OS]) in the younger and older patient cohorts (A [n = 34] and B [n = 66]: age < 70 and ≥70 years, respectively).

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Somatic variant testing through next-generation sequencing (NGS) is well integrated into Swiss molecular pathology laboratories and has become a standard diagnostic method for numerous indications in cancer patient care. Currently, there is a wide variation in reporting practices within our country, and as patients move between different hospitals, it is increasingly necessary to standardize NGS reports to ease their reinterpretation. Additionally, as many different stakeholders-oncologists, hematologists, geneticists, pathologists, and patients-have access to the NGS report, it needs to contain comprehensive and detailed information in order to answer the questions of experts and avoid misinterpretation by non-experts.

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  • A novel human circovirus, named HCirV-1, was discovered in a 66-year-old immunocompromised woman suffering from sudden hepatitis.
  • Researchers found HCirV-1 genetic material in the patient's liver cells and also in her blood, stool, and urine over an extended period.
  • HCirV-1 is recognized as an emerging human pathogen that can persist in individuals with weakened immune systems.
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Background: Marginal zone lymphomas of mucosa-associated lymphatic tissues (MZL of MALT) are a group of indolent B-cell neoplasms, which are thought to arise from chronic antigenic stimulation of B-cells either due to underlying chronic infection or autoimmune disease. Little is known about potential causative pathogens in pulmonary MZL (PMZL), although some data suggests a potential role of Achromobacter (A.) xylosoxidans.

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Objective: The present study compares postoperative outcomes between patients with and without sickle cell disease (SCD) undergoing 1-to 3-level lumbar spinal fusion for degenerative pathologies.

Methods: Patients who underwent 1-to 3-level lumbar spinal fusion for degenerative pathologies from 2010 to 2021 were identified using the PearlDiver database. Patients were separated into 1) SCD and 2) non-SCD groups and were propensity-matched 1:1 for age, sex, Elixhauser Comorbidity Index, surgical approach, and various comorbidities.

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  • Researchers studied the brains of COVID-19 survivors to understand the neurological issues some face after infection.
  • They found an increased presence of certain immune cells, specifically microglia, which are linked to brain inflammation and were organized in peculiar clusters.
  • Additionally, there was a decrease in a type of immune cell (CD8 T cells), indicating a shift in the immune response that could explain the neurological changes observed in post-COVID-19 patients.*
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Adjuvant immunotherapy has been recently recommended for patients with metastatic clear cell renal cell carcinoma (ccRCC), but there are no tissue biomarkers to predict treatment response in ccRCC. Potential predictive biomarkers are mainly assessed in primary tumor tissue, whereas metastases (METs) remain understudied. To explore potential differences between genomic alterations and immune phenotypes in primary tumors and their matched METs, we analyzed primary tumors (PTs) of 47 ccRCC patients and their matched distant METs by comprehensive targeted parallel sequencing, whole-genome copy number variation analysis, determination of microsatellite instability, and tumor mutational burden.

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  • Extranodal marginal zone lymphomas (eMZL) can develop in various organs, and their mutations differ by organ type; this study focused on primary breast marginal zone lymphomas (PBMZL).
  • The investigation of 15 cases (14 female, 1 male) utilized various techniques including immunohistochemistry and high-throughput sequencing, revealing specific mutations predominantly affecting the NF-κB pathway and shared similarities with other types of MZL.
  • Findings showed PBMZL is mutation-driven rather than reliant on gene fusions, indicating the absence of certain translocations and pathogens like Borrelia spp. in the cohort, with one patient noted for a previous skin condition.
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Introduction: Pulmonary pleomorphic carcinoma (PPC) is an aggressive and highly heterogeneous NSCLC whose underlying biology is still poorly understood.

Methods: A total of 42 tumor areas from 20 patients with PPC were microdissected, including 39 primary tumors and three metastases, and the histologically distinct components were subjected to whole exome sequencing separately. We further performed in silico analysis of microdissected bulk RNA sequencing and methylation data of 28 samples from 14 patients with PPC.

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Single-cell proteomics is a powerful approach to precisely profile protein landscapes within individual cells toward a comprehensive understanding of proteomic functions and tissue and cellular states. The inherent challenges associated with limited starting material demand heightened analytical sensitivity. Just as advances in sample preparation maximize the amount of material that makes it from the cell to the mass spectrometer, we strive to maximize the number of ions that make it from ion source to the detector.

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  • The Swiss Digital Pathology Consortium organized a Delphi process to develop recommendations for integrating digital pathology (DP) into clinical settings as new technologies emerge.
  • Four working groups were established to focus on critical aspects of DP systems, including scanners, integration with laboratory information systems, quality compliance, and image analysis with AI.
  • The outcome consists of 83 consensus statements that serve as guidelines for hospitals, researchers, and developers to promote effective and secure use of digital pathology.
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Digital pathology (DP) is increasingly entering routine clinical pathology diagnostics. As digitization of the routine caseload advances, implementation of digital image analysis algorithms and artificial intelligence tools becomes not only attainable, but also desirable in daily sign out. The Swiss Digital Pathology Consortium (SDiPath) has initiated a Delphi process to generate best-practice recommendations for various phases of the process of digitization in pathology for the local Swiss environment, encompassing the following four topics: i) scanners, quality assurance, and validation of scans; ii) integration of scanners and systems into the pathology laboratory information system; iii) the digital workflow; and iv) digital image analysis (DIA)/artificial intelligence (AI).

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Background: Previously reported estimates of vertebral artery injuries (VAIs) during cervical spine surgery relied on self-reported survey studies and retrospective cohorts, which may not be reflective of national averages. The largest study to date reports an incidence of 0.07%; however, significant variation exists between different cervical spine procedures.

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The emergence of SARS-CoV-2 has resulted in millions of deaths as a result of COVID-19. Suitable models were missing at the beginning of the pandemic, and studies investigating disease pathogenesis relied on patients who had succumbed to COVID-19. Since then, autopsies of patients have substantially contributed to our understanding of the pathogenesis of COVID-19 and associated major organ complications.

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We describe an apparatus for the cryogenic landing of particles from the ion beam of a mass spectrometer onto transmission electron microscope grids for cryo-electron microscopy. This system also allows for the controlled formation of thin films of amorphous ice on the grid surface. We demonstrate that as compared to room temperature landings, the use of this cryogenic landing device greatly improves the structural preservation of deposited protein-protein complexes.

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  • Testing for EGFR mutations is crucial for metastatic non-squamous non-small-cell lung cancer, but practical challenges like access to testing and limited tissue samples hinder routine biomarker testing in European labs.
  • A validated online survey conducted among 64 expert labs revealed varying turnaround times and testing practices, with a significant portion only conducting EGFR testing upon clinician request.
  • Despite these issues, testing rates remained stable during the COVID-19 pandemic, but overall there is significant variability in testing methods and quality assurance across different European laboratories.
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Study Design: Retrospective cohort study.

Objective: To analyze the effect of hyperlipidemia (HLD) on postoperative complications in patients who underwent anterior cervical discectomy and fusion (ACDF).

Summary Of Background Data: ACDF represents the standard procedure performed for focal anterior nerve root or spinal cord compression with low complication rates.

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Study Design/setting: Retrospective cohort analysis.

Objectives: This study evaluates utilization and demographic trends for sacroiliac joint (SIJ) fusions across the United States (US).

Methods: Patients who underwent SIJ fusion from 2010-2021 were identified within the PearlDiver national database using International Classification of Disease (ICD-9, ICD-10) and Current Procedural Terminology (CPT) codes.

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We describe an apparatus for the cryogenic landing of particles from the ion beam of a mass spectrometer onto transmission electron microscope grids for cryo-electron microscopy. This system also allows for the controlled formation of thin films of amorphous ice on the grid surface. We demonstrate that as compared to room temperature landings, use of this cryogenic landing device greatly improves the structural preservation of deposited protein-protein complexes.

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Study Design: A retrospective database study.

Objectives: The purpose of the current study was to investigate the impact of hyperlipidemia (HLD) on the incidence of perioperative complications associated with posterior cervical spine fusion (PCF).

Background: HLD is a very common disease that leads to atherosclerosis.

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Mertz, KH, Reitelseder, S, Rasmussen, MA, Bülow, J, Højfeldt, G, Jensen, M, Hjulmand, M, Lindberg, J, Kramer, MU, Bechshøft, R, and Holm, L. Changes in muscle mass and strength during follow-up after one-year resistance training interventions in older adults. J Strength Cond Res 37(10): 2064-2070, 2023-The aim of this study was to investigate if home-based resistance training compared with center-based resistance training was associated with better preservation of muscle mass and strength in older individuals, 6 months after the interventions ended.

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