11 research outputs found

    Analiza pierwszego styku ostrza skrawającego z materiałem obrabianym i jego wpływ na proces frezowania czołowego

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    The article deals with the mathematical model of the primary contact of a milling tool in face milling. When designing the mathematical model, there were taken into consideration positive and negative geometry of the cutting wedge with different angle of taking instrument. Mathematical model is the input for experimental verification of the primary contact of milling tool and is aimed at improving the process of milling.W artykule przedstawiono model matematyczny pierwszego styku ostrza skrawającego z materiałem obrabianym w procesie frezowania czołowego. W opracowaniu modelu uwzględniono narzędzia skrawające o ujemnej i dodatniej geometrii ostrza w różnym położeniu. Uzyskane zależności stanowiły podstawę do wykonania doświadczalnej weryfikacji procesu frezowania czołowego z uwzględnieniem wpływu geomertrii pierwszego styku ostrza z materiałem obrabianym na parametry wynikowe procesu w celu poprawy jego efektywności

    BioCreative VIII – Task 3: Genetic Phenotype Normalization from Dysmorphology Physical Examinations

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    <h3><strong>Abstract</strong></h3><p>The BioCreative VIII Task 3 focuses on normalizing terms mentioned in dysmorphology physical examinations to the Human Phenotype Ontology (HPO) to enable computational analysis geared towards finding correlations between patients with rare genetic diseases, delineate undescribed genetic conditions, or further our understanding of existing ones, among other applications. We made available 3,136 deidentified and manually annotated observations extracted from dysmorphology physical examinations of 1,652 pediatric patients. Task 3 consists of detecting all HPO terms mentioned in an observation and returning the HPO IDs associated with the terms detected. This task is challenging due to discontinuous, overlapping, and descriptive mentions of HPO terms, making strict matching approaches inefficient. The large size and incompleteness of the HPO ontology also prevents the annotation of an exhaustive training set to train conventional multi-class classifiers. A total of 20 teams registered, and 5 teams submitted their predictions. We summarize the corpus, the competing systems, and their results. Using a pre-trained large language model, the top system achieved a .82 F1 score, a score close to human performance, which confirms the recent advance in natural language processing recently commented on the media. The post-evaluation period of the challenge is still open for submission at https://codalab.lisn.upsaclay.fr/competitions/11351.</p><p> </p><p>This article is part of the <a href="https://zenodo.org/doi/10.5281/zenodo.10103190">Proceedings of the BioCreative VIII Challenge and Workshop: Curation and Evaluation in the era of Generative Models</a>.</p&gt

    Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care

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    BACKGROUND AND OBJECTIVES: Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmorphology physical examination. We studied the clinical effectiveness of telemedicine for patients with suspected or confirmed genetic conditions. METHODS: We conducted a retrospective cohort study of outpatient encounters before and after the widespread implementation of telemedicine (N = 5854). Visit types, diagnoses, patient demographic characteristics, and laboratory data were acquired from the electronic health record. Patient satisfaction was assessed through survey responses. New molecular diagnosis was the primary end point. RESULTS: Patients seen by telemedicine were more likely to report non-Hispanic White ancestry, prefer to speak English, live in zip codes with higher median incomes, and have commercial insurance (all P \u3c .01). Genetic testing was recommended for more patients evaluated by telemedicine than in person (79.5% vs 70.9%; P \u3c .001). Patients seen in person were more likely to have a sample collected, resulting in similar test completion rates (telemedicine, 51.2%; in person, 55.1%; P = .09). There was no significant difference in molecular diagnosis rate between visit modalities (telemedicine, 13.8%; in person, 12.4%; P = .40). CONCLUSIONS: Telemedicine and traditional in-person evaluation resulted in similar molecular diagnosis rates. However, improved methodologies for remote sample collection may be required. This study reveals the feasibility of telemedicine in a large academic medical genetics practice and is applicable to other pediatric specialties with perceived importance of physical examination

    Cell-autonomous requirement for ACE2 across organs in lethal mouse SARS-CoV-2 infection.

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    Angiotensin-converting enzyme 2 (ACE2) is the cell-surface receptor for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). While its central role in Coronavirus Disease 2019 (COVID-19) pathogenesis is indisputable, there remains significant debate regarding the role of this transmembrane carboxypeptidase in the disease course. These include the role of soluble versus membrane-bound ACE2, as well as ACE2-independent mechanisms that may contribute to viral spread. Testing these roles requires in vivo models. Here, we report humanized ACE2-floxed mice in which hACE2 is expressed from the mouse Ace2 locus in a manner that confers lethal disease and permits cell-specific, Cre-mediated loss of function, and LSL-hACE2 mice in which hACE2 is expressed from the Rosa26 locus enabling cell-specific, Cre-mediated gain of function. Following exposure to SARS-CoV-2, hACE2-floxed mice experienced lethal cachexia, pulmonary infiltrates, intravascular thrombosis and hypoxemia-hallmarks of severe COVID-19. Cre-mediated loss and gain of hACE2 demonstrate that neuronal infection confers lethal cachexia, hypoxemia, and respiratory failure in the absence of lung epithelial infection. In this series of genetic experiments, we demonstrate that ACE2 is absolutely and cell-autonomously required for SARS-CoV-2 infection in the olfactory epithelium, brain, and lung across diverse cell types. Therapies inhibiting or blocking ACE2 at these different sites are likely to be an effective strategy towards preventing severe COVID-19
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