10 research outputs found

    Quality of life and surgical outcome of ABBA versus EndoCATS endoscopic thyroid surgery: a single center experience

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    BACKGROUND Thyroid surgery is often performed, especially in young female patients. As patient satisfaction become more and more important, different extra-cervical \textquotedblremote\textquotedbl approaches have evolved to avoid visible scars in the neck for better cosmetic outcome. The most common remote approaches are the transaxillary and retroauricular. Aim of this work is to compare Endoscopic Cephalic Access Thyroid Surgery (EndoCATS) and axillo-bilateral-breast approach (ABBA) to standard open procedures regarding perioperative outcome and in addition to control cohorts regarding quality of life (QoL) and patient satisfaction. METHODS In a single center, 59 EndoCATS und 52 ABBA procedures were included out of a 2 years period and compared to 225 open procedures using propensity-score matching. For the endoscopic procedures, cosmetic outcome, patient satisfaction and QoL (SF-12 questionnaire) were examined in prospective follow-up. For QoL a German standard cohort and non-surgically patients with thyroid disease were used as controls. RESULT The overall perioperative outcome was similar for all endoscopic compared to open thyroid surgeries. Surgical time was longer for endoscopic procedures. There were no cases of permanent hypoparathyroidism and no significant differences regarding temporary or permanent recurrent laryngeal nerve (RLN) palsies between open and ABBA or EndoCATS procedures (χ2; p = 0.893 and 0.840). For ABBA and EndoCATS, 89.6% and 94.2% of patients were satisfied with the surgical procedure. Regarding QoL, there was an overall significant difference in distribution for physical, but not for mental health between groups (p < 0.001 and 0.658). Both endoscopic groups performed slightly worse regarding physical health, but without significant difference between the individual groups in post hoc multiple comparison. CONCLUSION Endoscopic thyroid surgery is safe with comparable perioperative outcome in experienced high-volume centers. Patient satisfaction and cosmetic results are excellent; QoL is impaired in surgical patients, as they perform slightly worse compared to German standard cohort and non-surgical patients

    Prevalence of chronic HCV infection in EU/EEA countries in 2019 using multiparameter evidence synthesis

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    Publisher Copyright: © 2023 The Author(s)Background: Epidemiological data are crucial to monitoring progress towards the 2030 Hepatitis C Virus (HCV) elimination targets. Our aim was to estimate the prevalence of chronic HCV infection (cHCV) in the European Union (EU)/European Economic Area (EEA) countries in 2019. Methods: Multi-parameter evidence synthesis (MPES) was used to produce national estimates of cHCV defined as: π = πrecρrec + πexρex + πnonρnon; πrec, πex, and πnon represent cHCV prevalence among recent people who inject drugs (PWID), ex-PWID, and non-PWID, respectively, while ρrec, ρex, and ρnon represent the proportions of these groups in the population. Information sources included the European Centre for Disease Prevention and Control (ECDC) national operational contact points (NCPs) and prevalence database, the European Monitoring Centre for Drugs and Drug Addiction databases, and the published literature. Findings: The cHCV prevalence in 29 of 30 EU/EEA countries in 2019 was 0.50% [95% Credible Interval (CrI): 0.46%, 0.55%]. The highest cHCV prevalence was observed in the eastern EU/EEA (0.88%; 95% CrI: 0.81%, 0.94%). At least 35.76% (95% CrI: 33.07%, 38.60%) of the overall cHCV prevalence in EU/EEA countries was associated with injecting drugs. Interpretation: Using MPES and collaborating with ECDC NCPs, we estimated the prevalence of cHCV in the EU/EEA to be low. Some areas experience higher cHCV prevalence while a third of prevalent cHCV infections was attributed to PWID. Further efforts are needed to scale up prevention measures and the diagnosis and treatment of infected individuals, especially in the east of the EU/EEA and among PWID. Funding: ECDC.Peer reviewe

    Design and Evaluation of an HPC-based Expert System to speed-up Retail Data Analysis using Residual Networks Combined with Parallel Association Rule Mining and Scalable Recommenders

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    Given the Covid-19 pandemic, the retail industry shifts many business models to enable more online purchases that produce large transaction data quantities (i.e., big data). Data science methods infer seasonal trends about products from this data and spikes in purchases, the effectiveness of advertising campaigns, or brand loyalty but require extensive processing power leveraging High-Performance Computing to deal with large transaction datasets. This paper proposes an High-Performance Computing-based expert system architectural design tailored for ‘big data analysis’ in the retail industry, providing data science methods and tools to speed up the data analysis with conceptual interoperability to commercial cloud-based services. Our expert system leverages an innovative Modular Supercomputer Architecture to enable the fast analysis by using parallel and distributed algorithms such as association rule mining (i.e., FP-Growth) and recommender methods (i.e., collaborative filtering). It enables the seamless use of accelerators of supercomputers or cloud-based systems to perform automated product tagging (i.e., residual deep learning networks for product image analysis) to obtain colour, shapes automatically, and other product features. We validate our expert system and its enhanced knowledge representation with commercial datasets obtained from our ON4OFF research project in a retail case study in the beauty sector

    Developing an Artificial Intelligence-Based Representation of a Virtual Patient Model for Real-Time Diagnosis of Acute Respiratory Distress Syndrome

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    Acute Respiratory Distress Syndrome (ARDS) is a condition that endangers the lives of many Intensive Care Unit patients through gradual reduction of lung function. Due to its heterogeneity, this condition has been difficult to diagnose and treat, although it has been the subject of continuous research, leading to the development of several tools for modeling disease progression on the one hand, and guidelines for diagnosis on the other, mainly the “Berlin Definition”. This paper describes the development of a deep learning-based surrogate model of one such tool for modeling ARDS onset in a virtual patient: the Nottingham Physiology Simulator. The model-development process takes advantage of current machine learning and data-analysis techniques, as well as efficient hyperparameter-tuning methods, within a high-performance computing-enabled data science platform. The lightweight models developed through this process present comparable accuracy to the original simulator (per-parameter R2 > 0.90). The experimental process described herein serves as a proof of concept for the rapid development and dissemination of specialised diagnosis support systems based on pre-existing generalised mechanistic models, making use of supercomputing infrastructure for the development and testing processes and supported by open-source software for streamlined implementation in clinical routines

    ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes

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    Genetic variants in α-actinin-2 (ACTN2) are associated with several forms of (cardio)myopathy. We previously reported a heterozygous missense (c.740C>T) ACTN2 gene variant, associated with hypertrophic cardiomyopathy, and characterized by an electro-mechanical phenotype in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Here, we created with CRISPR/Cas9 genetic tools two heterozygous functional knock-out hiPSC lines with a second wild-type (ACTN2wt) and missense ACTN2 (ACTN2mut) allele, respectively. We evaluated their impact on cardiomyocyte structure and function, using a combination of different technologies, including immunofluorescence and live cell imaging, RNA-seq, and mass spectrometry. This study showed that ACTN2mut presents a higher percentage of multinucleation, protein aggregation, hypertrophy, myofibrillar disarray, and activation of both the ubiquitin-proteasome system and the autophagy-lysosomal pathway as compared to ACTN2wt in 2D-cultured hiPSC-CMs. Furthermore, the expression of ACTN2mut was associated with a marked reduction of sarcomere-associated protein levels in 2D-cultured hiPSC-CMs and force impairment in engineered heart tissues. In conclusion, our study highlights the activation of proteolytic systems in ACTN2mut hiPSC-CMs likely to cope with ACTN2 aggregation and therefore directs towards proteopathy as an additional cellular pathology caused by this ACTN2 variant, which may contribute to human ACTN2-associated cardiomyopathies

    Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

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    Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. We generated patient-derived human-induced pluripotent stem cells (hiPSCs) and show that hiPSC-derived cardiomyocytes and engineered heart tissues recapitulated several hallmarks of HCM, such as hypertrophy, myofibrillar disarray, hypercontractility, impaired relaxation, and higher myofilament Ca2+ sensitivity, and also prolonged action potential duration and enhanced L-type Ca2+ current. The L-type Ca2+ channel blocker diltiazem reduced force amplitude, relaxation, and action potential duration to a greater extent in HCM than in isogenic control. We translated our findings to patient care and showed that diltiazem application ameliorated the prolonged QTc interval in HCM-affected son and sister of the index patient. These data provide evidence for this ACTN2 mutation to be disease-causing in cardiomyocytes, guiding clinical therapy in this HCM family. This study may serve as a proof-of-principle for the use of hiPSC for personalized treatment of cardiomyopathies.publishedVersionPeer reviewe

    Prevalence of chronic HCV infection in EU/EEA countries in 2019 using multiparameter evidence synthesis

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    Abstract: Background Epidemiological data are crucial to monitoring progress towards the 2030 Hepatitis C Virus (HCV) elimination targets. Our aim was to estimate the prevalence of chronic HCV infection (cHCV) in the European Union (EU)/European Economic Area (EEA) countries in 2019. Methods Multi-parameter evidence synthesis (MPES) was used to produce national estimates of cHCV defined as: \u3c0 = \u3c0rec\u3c1rec + \u3c0ex\u3c1ex + \u3c0non\u3c1non; \u3c0rec, \u3c0ex, and \u3c0non represent cHCV prevalence among recent people who inject drugs (PWID), ex-PWID, and non-PWID, respectively, while \u3c1rec, \u3c1ex, and \u3c1non represent the proportions of these groups in the population. Information sources included the European Centre for Disease Prevention and Control (ECDC) national operational contact points (NCPs) and prevalence database, the European Monitoring Centre for Drugs and Drug Addiction databases, and the published literature. Findings The cHCV prevalence in 29 of 30 EU/EEA countries in 2019 was 0.50% [95% Credible Interval (CrI): 0.46%, 0.55%]. The highest cHCV prevalence was observed in the eastern EU/EEA (0.88%; 95% CrI: 0.81%, 0.94%). At least 35.76% (95% CrI: 33.07%, 38.60%) of the overall cHCV prevalence in EU/EEA countries was associated with injecting drugs. Interpretation Using MPES and collaborating with ECDC NCPs, we estimated the prevalence of cHCV in the EU/EEA to be low. Some areas experience higher cHCV prevalence while a third of prevalent cHCV infections was attributed to PWID. Further efforts are needed to scale up prevention measures and the diagnosis and treatment of infected individuals, especially in the east of the EU/EEA and among PWID
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