Publications by authors named "Kaufmann D"

Objective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.

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: The number of incidental renal lesions identified in CT scans of the abdomen is increasing. Objective: The aim of this study was to determine whether hyperdense renal lesions without solid components in a portal venous CT scan can be clearly classified as vascular or non-vascular by material decomposition into iodine and water. This retrospective single-center study included 26 patients (mean age 72 years ± 9; 16 male) with 42 hyperdense renal lesions (>20 HU) in a contrast-enhanced Photon-Counting Detector CT scan (PCD-CT) between May and December 2022.

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Unlabelled: Automated reasoning techniques based on computer algebra have seen renewed interest in recent years and are for example heavily used in formal verification of arithmetic circuits. However, the verification process might contain errors. Generating and checking proof certificates is important to increase the trust in automated reasoning tools.

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Only a third of immune-associated loci from genome-wide association studies (GWAS) colocalize with expression quantitative trait loci (eQTLs). To learn about causal genes and mechanisms at the remaining loci, we created a unified single-cell chromatin accessibility (scATAC-seq) map in peripheral blood comprising a total of 282,424 cells from 48 individuals. Clustering and topic modeling of scATAC data identified discrete cell-types and continuous cell states, which helped reveal disease-relevant cellular contexts, and allowed mapping of genetic effects on chromatin accessibility across these contexts.

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Genome-wide association studies performed in patients with coronavirus disease 2019 (COVID-19) have uncovered various loci significantly associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity. However, the underlying -regulatory genetic factors that contribute to heterogeneity in the response to SARS-CoV-2 infection and their impact on clinical phenotypes remain enigmatic. Here, we used single-cell RNA-sequencing to quantify genetic contributions to -regulatory variation in 361,119 peripheral blood mononuclear cells across 63 COVID-19 patients during acute infection, 39 samples collected in the convalescent phase, and 106 healthy controls.

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Gout is the most common inflammatory arthritis, affecting approximately 5.1% of adults in the United States (US) population. Gout is a metabolic and autoinflammatory disease.

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Objectives: In this multi-center study, we proposed a structured reporting (SR) framework for non-small cell lung cancer (NSCLC) and developed a software-assisted tool to automatically translate image-based findings and annotations into TNM classifications. The aim of this study was to validate the software-assisted SR tool for NSCLC, assess its potential clinical impact in a proof-of-concept study, and evaluate current reporting standards in participating institutions.

Methods: A framework for SR and staging of NSCLC was developed in a multi-center collaboration.

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  • - T cell immune dysfunction is a significant issue in chronic HIV infection, and evaluating this dysfunction requires a method that involves both general and specific activation of T cells.
  • - Researchers developed a tunable artificial antigen-presenting cell (aAPC) system using silica microbeads, which showed that adding CD28 co-stimulation to anti-CD3 enhances T cell activation and cytokine production, especially IL-2.
  • - CD4 and CD8 T cells from untreated HIV patients displayed altered immune responses with a reduced dependence on CD28, and while antiretroviral therapy helps restore some functions in CD4 T cells, CD8 T cells remain impaired, suggesting persistent dysfunction linked to HIV.
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  • HIV-1 envelope glycoprotein (Env) structure affects the immune response, with "closed" forms evading certain antibodies while "open" forms are vulnerable to others.
  • Infected CD4+ T cells show that downmodulation of CD4 occurs before HIV-1 mRNA expression, and these cells mainly express "closed" Envs, resistant to non-neutralizing antibodies (nnAbs).
  • The study challenges the effectiveness of nnAbs in targeting productively infected cells for HIV-1 treatment, as attempts with nnAbs did not reduce viral replication in humanized mouse models.
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  • Hereditary hemochromatosis (HH) is a genetic condition characterized by fatigue, but effective measurement methods for this symptom are limited and need further investigation.
  • A study involving 79 HH patients used fatigue assessment scales (FAS, FSS, CFQ) and found that the patients experienced significantly higher levels of fatigue compared to matched healthy controls and blood donors.
  • The scales demonstrated high reliability and validity, confirming their effectiveness as diagnostic tools for assessing fatigue in HH patients, with women reporting more severe fatigue than men.
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Purpose: To investigate the diagnostic performance of an automatic pipeline for detection of hydronephrosis on kidney's parenchyma on unenhanced low-dose CT of the abdomen.

Methods: This retrospective study included 95 patients with confirmed unilateral hydronephrosis in an unenhanced low-dose CT of the abdomen. Data were split into training (n = 67) and test (n = 28) cohorts.

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Background: Photon-counting detector computed tomography (PCD-CT) is a groundbreaking technology with promising results for visualization of small bone structures.

Purpose: To analyze the delineation of the thoracic spine in multiplanar reconstructions (MPR) on PCD-CT compared to energy-integrating detector (EID)-CT.

Material And Methods: Two euthanized mice were examined using different scanners: (i) 20-slice EID-CT and (ii) dual-source PCD-CT at various CTDI values.

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  • The COVID-19 pandemic has severely impacted immunosuppressed individuals, such as solid organ transplant recipients and those undergoing cancer treatment, leading to worse health outcomes and higher mortality rates.
  • Due to challenges in studying these vulnerable populations, researchers created a mathematical model to simulate immune responses and analyzed virtual patient cohorts that mirrored clinical data from cancer and immunosuppressed patients.
  • The model revealed that severe cases in these groups exhibited reduced CD8+ T cells, delayed type I interferon peaks, and higher tissue damage, suggesting that immune dysfunction is a critical factor in COVID-19 severity for cancer patients.
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Asteroids with diameters less than about 5 km have complex histories because they are small enough for radiative torques (that is, YORP, short for the Yarkovsky-O'Keefe-Radzievskii-Paddack effect) to be a notable factor in their evolution. (152830) Dinkinesh is a small asteroid orbiting the Sun near the inner edge of the main asteroid belt with a heliocentric semimajor axis of 2.19 AU; its S-type spectrum is typical of bodies in this part of the main belt.

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The introduction of photon-counting detector CT (PCD-CT) marks a remarkable leap in innovation in CT imaging. The new detector technology allows X-rays to be converted directly into an electrical signal without an intermediate step via a scintillation layer and allows the energy of individual photons to be measured. Initial data show high spatial resolution, complete elimination of electronic noise, and steady availability of spectral image data sets.

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  • - The study analyzes plasma samples from 318 COVID-19 patients to understand how RNAemia, delayed antibody responses, and inflammation affect patient outcomes, revealing four distinct patient clusters based on severity and survival probability.
  • - Critically ill patients were categorized into good prognosis and high-fatality clusters, while non-critical survivors were divided into high and low early antibody responders, each showing different patterns in antibody development and inflammation.
  • - The findings indicate that high-fatality patients have specific genomic signatures linked to severe COVID-19, and both critical and non-critical patients with delayed antibody responses exhibit persistent interferon (IFN) activity, suggesting that high IFN levels might hinder the body's ability to build effective immunity.
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  • Current guidelines do not require transesophageal echocardiography (TEE) for well-anticoagulated patients before catheter ablation (CA) for atrial arrhythmias, but clinical practice often differs.
  • This study analyzed data from the LATTEE registry to find echocardiographic parameters that can effectively predict the absence of left atrial thrombus (LAT) in patients, which would help skip unnecessary TEE procedures.
  • Key echocardiographic criteria, such as a left ventricular ejection fraction over 65% and specific left atrial measurements, showed 100% sensitivity for identifying LAT-free patients, potentially allowing 35% of patients to avoid TEE before CA.
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Throughout the SARS-CoV-2 pandemic, several variants of concern (VOCs) have been identified, many of which share recurrent mutations in the spike glycoprotein's receptor-binding domain (RBD). This region coincides with known epitopes and can therefore have an impact on immune escape. Protracted infections in immunosuppressed patients have been hypothesized to lead to an enrichment of such mutations and therefore drive evolution towards VOCs.

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  • Dimensionality reduction methods like PHATE, t-SNE, and UMAP help visualize complex biological data, but they often do so without the guidance of expert labels.
  • The new method RF-PHATE combines expert knowledge with unsupervised techniques by using random forests to create low-dimensional visualizations that emphasize important data relationships while filtering out irrelevant features.
  • RF-PHATE is effective for large datasets and has been successfully applied in multiple case studies, showing its ability to handle time-series data in multiple sclerosis research, analyze noisy Raman spectral data, and connect geometric structures with COVID-19 outcomes.
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We have previously shown that blood levels of B-cell Activating Factor (BAFF) rise relatively to disease progression status in the context of HIV-1 infection. Excess BAFF was concomitant with hyperglobulinemia and the deregulation of blood B-cell populations, notably with increased frequencies of a population sharing characteristics of transitional immature and marginal zone (MZ) B-cells, which we defined as marginal zone precursor-like" (MZp). In HIV-uninfected individuals, MZp present a B-cell regulatory (Breg) profile and function, which are lost in classic-progressors.

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Introduction: The role of visceral fat in disease development, particularly in Crohn´s disease (CD), is significant. However, its preoperative prognostic value for postoperative complications and CD relapse after ileocecal resection (ICR) remains unknown. This study aims to assess the predictive potential of preoperatively measured visceral and subcutaneous fat in postoperative complications and CD recurrence using magnetic resonance imaging (MRI).

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