Stud Health Technol Inform
September 2025
Introduction: Manual ICD-10 coding of German clinical texts is time-consuming and error-prone. This project aims to develop a semi-automated pipeline for efficient coding of unstructured medical documentation.
State Of The Art: Existing approaches often rely on fine-tuned language models that require large datasets and perform poorly on rare codes, particularly in low-resource languages such as German.
The primary cilium plays a crucial role in regulating whole-body energy metabolism, as reflected in Bardet-Biedl syndrome (BBS), where ciliary dysfunction leads to obesity due to hyperphagia and white adipose tissue (WAT) remodeling. Regulation of the fate and differentiation of adipocyte precursor cells (APCs) is essential for maintaining WAT homeostasis during obesity. Using Bbs8 mice that recapitulate the BBS patient phenotype, we demonstrate that primary cilia dysfunction reduces the stem-cell-like P1 APC subpopulation by inducing a phenotypic switch to a fibrogenic progenitor state.
View Article and Find Full Text PDFIdentification of previous SARS-CoV-2 infection typically relies on serology, yet T-cells play a key role in the adaptive immune response against SARS-CoV-2. Here, we investigated in parallel the SARS-CoV-2-specific as well as endemic human coronavirus-specific humoral and cross-reactive cellular responses in children and adults. We analyzed clinical data and blood samples from a family cohort of 96 children and 144 adults at 3-4 and 11-12 months after their first contact with SARS-CoV-2.
View Article and Find Full Text PDFChronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent life-threatening infections and hyperinflammatory complications. It is caused by mutations in the NADPH oxidase complex and the consequent loss of reactive oxygen species (ROS) production. Recombinant human interferon gamma (rIFN-γ) prophylaxis reduces the risk of severe infections, but the mechanisms behind its efficacy in CGD are still an open question, as it does not restore NADPH oxidase-dependent ROS production.
View Article and Find Full Text PDFCell Rep Methods
July 2025
In this study, we established a comprehensive workflow to collect multi-omics single-cell data using a commercially available micro-well-based platform. This included whole transcriptome, cell surface markers (targeted sequencing-based cell surface proteomics), T cell specificities, adaptive immune receptor repertoire (AIRR) profiles, and sample multiplexing. With this technique, we identified paired T cell receptor sequences for three prominent human CMV epitopes.
View Article and Find Full Text PDFBackground: Cardiovascular diseases are a major cause of morbidity and mortality, and the management of these conditions generates extensive clinical data. The CARDIO:DE dataset, a German-language corpus of cardiovascular clinical routine letters, has been developed to support natural language processing research. This study seeks to enhance the dataset by introducing refined annotation guidelines and expanding the annotation schema.
View Article and Find Full Text PDFPurpose: This trial evaluated the noninferiority of a relaxed compared to a strict treat-and-extend treatment strategy in patients with neovascular Age-related macular degeneration (AMD).
Methods: Multicenter, randomized, controlled, phase IV, non-inferiority clinical trial. Patients with treatment-naïve nAMD were randomized 1:1 to a relaxed or strict treat-and-extend treatment regimen.
We report on a patient with uveal melanoma treated with radiosurgery using the ZAP-X system (Zap Surgical Systems Inc., San Carlos, USA), a novel stereotactic radiosurgery delivery system dedicated to the treatment of intracranial lesions. A 78-year-old female patient presented with a collar-button uveal melanoma measuring 9.
View Article and Find Full Text PDFFamilial adenomatous polyposis (FAP) is an inherited gastrointestinal syndrome associated with duodenal adenoma formation. Even among carriers of the same genetic variant, duodenal phenotypes vary, indicating that additional factors, such as the local immune system, play a role. We observe an increase in duodenal IL-17A(+)NKp44(-) innate lymphoid type 3 cell (ILC3) in FAP, localized near the epithelium and enriched in adenomas and carcinomas.
View Article and Find Full Text PDFIn central nervous system (CNS) diseases characterized by late-onset neurodegeneration, the interplay between innate and adaptive immune responses remains poorly understood. This knowledge gap is exacerbated by the prolonged protracted disease course as it complicates the delineation of brain-resident and infiltrating cells. Here, we conducted comprehensive profiling of innate and adaptive immune cells in a murine model of spastic paraplegia 15 (SPG15), a complicated form of hereditary spastic paraplegia.
View Article and Find Full Text PDFArtificial intelligence (AI) is gaining widespread traction in ophthalmology, with multiple screening and diagnostic tools already being approved by U. S. and EU authorities.
View Article and Find Full Text PDFBackground: Our study aims to compare the efficacy of half-dose photodynamic therapy with verteporfin (PDT) and subthreshold micropulse laser (SML) in patients with central serous chorioretinopathy (CSCR) with regards to subretinal fluid (SRF) resorption, visual acuity (VA), and central subfield thickness (CST).
Patients And Methods: We conducted a retrospective multicentre clinical study at the Departments of Ophthalmology at the University Hospital Zurich and Stadtspital Zürich, Switzerland. The study included patients with acute and chronic CSCR who underwent PDT, SML, or both sequentially between June 1, 2020 and December 31, 2023.
(1) Background: The process of epiretinal membrane peeling (MP) requires precise intraoperative visualization to achieve optimal surgical outcomes. This study investigates the integration of preoperative Optical Coherence Tomography (OCT) images into real-time surgical video feeds, providing a dynamic overlay that enhances the decision-making process during surgery. (2) Methods: Five MP surgeries were analyzed, where preoperative OCT images were first manually aligned with the initial frame of the surgical video by selecting five pairs of corresponding points.
View Article and Find Full Text PDFNeonates primarily rely on innate immune defense, yet their inflammatory responses are usually restricted compared to adults. This is controversially interpreted as a sign of immaturity or essential programming, increasing or decreasing the risk of sepsis, respectively. Here, combined transcriptomic, metabolic, and immunological studies in monocytes of healthy individuals reveal an inverse ontogenetic shift in metabolic pathway activities with increasing age.
View Article and Find Full Text PDFWith the cost/yield-ratio of drug development becoming increasingly unfavourable, recent work has explored machine learning to accelerate early stages of the development process. Given the current success of deep generative models across domains, we here investigated their application to the property-based proposal of new small molecules for drug development. Specifically, we trained a latent diffusion model-DrugDiff-paired with predictor guidance to generate novel compounds with a variety of desired molecular properties.
View Article and Find Full Text PDFThe SARS-CoV-2 nucleocapsid protein is indispensable for viral RNA genome processing. Although the N-terminal domain (NTD) is suggested to mediate specific RNA-interactions, high-resolution structures with viral RNA are still lacking. Available hybrid structures of the NTD with ssRNA and dsRNA provide valuable insights; however, the precise mechanism of complex formation remains elusive.
View Article and Find Full Text PDFRecently, a deep learning algorithm (DLA) has been developed to predict the chronological age from retinal images. The Retinal Age Gap (RAG), a deviation between predicted age from retinal images (Retinal Age, RA) and chronological age, correlates with mortality and age-related diseases. This study evaluated the reliability and accuracy of RA predictions and analyzed various factors that may influence them.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
November 2024
Invest Ophthalmol Vis Sci
October 2024
Purpose: Existing retinal vessel tortuosity metrics lack standardization and retest reliability, hindering their clinical utility. Our study addresses this gap by introducing a novel metric, coined as the "vascular curvature index" (VCI), to enhance accuracy and consistency in biomarkers associated with medical conditions. We assess VCI's performance in terms of retest reliability in healthy subjects to transform early detection and monitoring approaches for various diseases.
View Article and Find Full Text PDFTransl Vis Sci Technol
August 2024
Purpose: Epiretinal membranes (ERM) pose a common challenge in vitreoretinal pathology, often causing vision impairment in older adults. The Preceyes Surgical System (PSS) supports the surgical removal of ERM through robot-assisted membrane peeling (RA-MP). This study compares surgical times and iatrogenic hemorrhages between manual membrane peeling (MMP) and RA-MP using PSS.
View Article and Find Full Text PDFDexamethasone is a life-saving treatment for severe COVID-19, yet its mechanism of action is unknown, and many patients deteriorate or die despite timely treatment initiation. Here, we identify dexamethasone treatment-induced cellular and molecular changes associated with improved survival in COVID-19 patients. We observed a reversal of transcriptional hallmark signatures in monocytes associated with severe COVID-19 and the induction of a monocyte substate characterized by the expression of glucocorticoid-response genes.
View Article and Find Full Text PDFThe SARS-CoV-2 genome has been shown to be mA methylated at several positions in vivo. Strikingly, a DRACH motif, the recognition motif for adenosine methylation, resides in the core of the transcriptional regulatory leader sequence (TRS-L) at position A74, which is highly conserved and essential for viral discontinuous transcription. Methylation at position A74 correlates with viral pathogenicity.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
April 2024
Electroretinography (ERG) provides crucial insights into retinal function and the integrity of the visual pathways. However, ERG assessments classically require a complicated technical background with costly equipment. In addition, the placement of corneal or conjunctival electrodes is not always tolerated by the patients, which restricts the measurement for pediatric evaluations.
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