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Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

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Congenital Heart Disease 2022年第2期17卷 129-140页

作者： Pengzhu Li Martina Bacova Robert Dalla-Pozza Nikolaus Alexander Haas Felix Sebastian Oberhoffer Department of Pediatric Cardiology and Intensive Care Medical Hospital of the University of MunichLudwig Maximilians University MunichMunichGermany

Turner syndrome(TS)is a rare disorder affecting 25–50 in 100000 female newborns.Bicuspid aortic valve(BAV)is assumed to be the most common congenital heart defect(CHD)in TS.In literature,reported BAV prevalence in TS ranges between 14%and 34%.The specific BAV prevalence in TS is still unknown.The aim of this study was to give a more precise estimation of BAV prevalence in TS by conducting a meta-analysis of TS-studies,which detected BAV by either cardiac magnetic resonance imaging(MRI)or cardiac computed tomography(CT).We searched PubMed,Cochrane Library,and Web of Science databases to collect observational studies including the prevalence of BAV identified by cardiac MRI or cardiac CT in TS patients up to June 4th,2021.After screening for inclusion,data extraction,and quality assessment by two independent reviewers,the meta-analysis was performed with R 4.1.1 software.Results are shown as proportion and weighted mean difference with 95%confidence intervals(95%CI).In total,11 studies involving 1177 patients were included.Pooled data showed that the prevalence of BAV in TS patients was 23.7%(95%CI:21.3%to 26.1%).No high heterogeneity was found between the included studies.The current meta-analysis reveals that BAVcan be detected in 23.7%of TS patients receiving cardiac MRI or cardiac CT.Therefore,BAV can be considered as the most common CHD in TS.Compared to TTE,cardiac MRI and cardiac CT might represent superior imaging modalities in BAV assessment of adult TS patients.

关键词： Turner syndrome bicuspid aortic valve magnetic resonance imaging(MRI) tomography X-ray computed(CT)

An IEEE value loop of human-technology collaboration in geospatial information science

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Geo-Spatial Information Science 2020年第1期23卷 61-67页

作者： Liqiu Meng Chair of Cartography Technical University of MunichMunichGermany

Geosensing and social sensing as two digitalization mainstreams in big data era are increasingly converging toward an integrated system for the creation of semantically enriched digital Earth.Along with the rapid developments of AI technologies,this convergence has inevitably brought about a number of transformations.On the one hand,value-adding chains from raw data to products and services are becoming value-adding loops composed of four successive stages–Informing,Enabling,Engaging and Empowering(IEEE).Each stage is a dynamic loop for itself.On the other hand,the“human versus technology”relationship is upgraded toward a game-changing“human and technology”collaboration.The information loop is essentially shaped by the omnipresent reciprocity between humans and technologies as equal partners,co-learners and co-creators of new values.The paper gives an analytical review on the mutually changing roles and responsibilities of humans and technologies in the individual stages of the IEEE loop,with the aim to promote a holistic understanding of the state of the art of geospatial information science.Meanwhile,the author elicits a number of challenges facing the interwoven human-technology collaboration.The transformation to a growth mind-set may take time to realize and consolidate.Research works on large-scale semantic data integration are just in the beginning.User experiences of geovisual analytic approaches are far from being systematically studied.Finally,the ethical concerns for the handling of semantically enriched digital Earth cover not only the sensitive issues related to privacy violation,copyright infringement,abuse,etc.but also the questions of how to make technologies as controllable and understandable as possible for humans and how to keep the technological ethos within its constructive sphere of societal influence.

关键词： Geosensing social sensing geovisual analytics semantic web embodied cognition ethics uncertainty

Intraprocedural gastric juice analysis as compared to rapid urease test for real-time detection of Helicobacter pylori

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World Journal of Gastroenterology 2023年第10期29卷 1638-1647页

作者： Riccardo Vasapolli Florent Ailloud Sebastian Suerbaum Jens Neumann Nadine Koch Lukas Macke Jörg Schirra Julia Mayerle Peter Malfertheiner Christian Schulz Medical DepartmentⅡ University Hospital LMU MunichMunich 81377Germany Deutsches Zentrum für Infektionsforschung Partner Site MunichMunich 81377Germany Max von Pettenkofer Institute Faculty of MedicineLudwig-Maximilians University of MunichMunich 80336Germany National Reference Center for Helicobacter pylori Munich 81377Germany Institute of Pathology Faculty of MedicineLudwig-Maximilians-University of MunichMunich 81377Germany

BACKGROUND Endofaster is an innovative technology that can be combined with upper gastrointestinal endoscopy(UGE)to perform gastric juice analysis and real-time detection of Helicobacter pylori(H.pylori).AIM To assess the diagnostic performance of this technology and its impact on the management of H.pylori in the real-life clinical setting.METHODS Patients undergoing routine UGE were prospectively recruited.Biopsies were taken to assess gastric histology according to the updated Sydney system and for rapid urease test(RUT).Gastric juice sampling and analysis was performed using the Endofaster,and the diagnosis of H.pylori was based on real-time ammonium measurements.Histological detection of H.pylori served as the diagnostic gold standard for comparing Endofaster-based H.pylori diagnosis with RUT-based H.pylori detection.RESULTS A total of 198 patients were prospectively enrolled in an H.pylori diagnostic study by Endofasterbased gastric juice analysis(EGJA)during the UGE.Biopsies for RUT and histological assessment were performed on 161 patients(82 men and 79 women,mean age 54.8±19.2 years).H.pylori infection was detected by histology in 47(29.2%)patients.Overall,the sensitivity,specificity,accuracy,positive predictive value,and negative predictive value(NPV)for H.pylori diagnosis by EGJA were 91.5%,93.0%,92.6%,84.3%,and 96.4%,respectively.In patients on treatment with proton pump inhibitors,diagnostic sensitivity was reduced by 27.3%,while specificity and NPV were unaffected.EGJA and RUT were comparable in diagnostic performance and highly concordant in H.pylori detection(κ-value=0.85).CONCLUSION Endofaster allows for rapid and highly accurate detection of H.pylori during gastroscopy.This may guide taking additional biopsies for antibiotic susceptibility testing during the same procedure and then selecting an individually tailored eradication regimen.

关键词： Helicobacter pylori diagnostic Chronic gastritis Gastric juice Endofaster Rapid urease test Antimicrobial susceptibility testing

RNA sequencing role and application in clinical diagnostic

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Pediatric Investigation 2022年第1期6卷 29-35页

作者： Fatemeh Peymani Aiman Farzeen Holger Prokisch School of Medicine Institute of Human GeneticsTechnical University of MunichMunichGermany Institute of Neurogenomics Computational Health CenterHelmholtz Centre MunichNeuherbergGermany

Although whole-exome sequencing and whole-genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders,about half of the patients still do not receive a molecular diagnosis.The high fraction of variants with uncertain significance and the challenges of interpretation of noncoding variants have urged scientists to implement RNA sequencing(RNA-seq)in the diagnostic approach as a high throughput assay to complement genomic data with functional evidence.RNA-seq data can be used to identify aberrantly spliced genes,detect allele-specific expression,and identify gene expression outliers.Amongst eight studies utilizing RNA-seq,a mean diagnostic uplift of 15%has been reported.Here,we provide an overview of how RNA-seq has been implemented to aid in identifying the causal variants of Mendelian disorders.

关键词： Aberrant expression Clinical diagnosis Gene expression outliers Genetics diagnosis RNA phenotype RNA sequencing Transcriptome

Enhancing the light reactions of photosynthesis:Strategies,controversies,and perspectives

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Molecular Plant 2023年第1期16卷 4-22页

作者： Dario Leister Plant Molecular Biology Faculty of BiologyLudwig-Maximilians-University(LMU)MunichMartinsried-PlaneggD-82152 MunichGermany

Photosynthesis is central to life on Earth,employing sunlight,water,and carbon dioxide to produce chemical energy and oxygen.It is generally accepted that boosting its efficiency offers one promising way to increase crop yields under agronomically realistic conditions.Since the components,structure,and regulatory mechanisms of the light reactions of photosynthesis are well understood,concepts for enhancing the process have been suggested and partially tested.These approaches vary in complexity,from targeting single components to comprehensive redesign of the whole process on the scales from single cells or tissues to whole canopies.Attempts to enhance light utilization per leaf,by decreasing pigmentation,increasing levels of photosynthetic proteins,prolonging the lifespan of the photosynthetic machinery,or massive reconfiguration of the photosynthetic machinery and the incorporation of nanomaterials,are discussed in this review first.Secondly,strategies intended to optimize the acclimation of photosynthesis to changes in the environment are presented,including redesigning mechanisms to dissipate excess excitation energy(e.g.,non-photochemical quenching)or reduction power(e.g.,flavodiiron proteins).Moreover,schemes for improving acclimation,inspired by natural or laboratory-induced adaptation,are introduced.However,all these endeavors are still in an early exploratory phase and/or have not resulted in the desired outcome,largely because photosynthesis is embedded within large networks of closely interacting cellular and metabolic processes,which can vary among species and even cultivars.This explains why integrated,systems-wide approaches are required to achieve the breakthroughs required for effectively increasing crop yields.

关键词： Arabidopsis adaptive laboratory evolution crop yield photosynthesis synthetic biology tobacco

NeuroBiometric:An Eye Blink Based Biometric Authentication System Using an Event-Based Neuromorphic Vision Sensor

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IEEE/CAA Journal of Automatica Sinica 2021年第1期8卷 206-218页

作者： Guang Chen Fa Wang Xiaoding Yuan Zhijun Li Zichen Liang Alois Knoll the Tongji university Shanghai 200092Chinaand also with the Technical University of MunichMunich 80333Germany the Tongji university Shanghai 200092China the university of Science and Technology of China Hefei 230026China the Technical university of munich Munich 80333Germany

The rise of the Internet and identity authentication systems has brought convenience to people's lives but has also introduced the potential risk of privacy leaks.Existing biometric authentication systems based on explicit and static features bear the risk of being attacked by mimicked data.This work proposes a highly efficient biometric authentication system based on transient eye blink signals that are precisely captured by a neuromorphic vision sensor with microsecond-level temporal resolution.The neuromorphic vision sensor only transmits the local pixel-level changes induced by the eye blinks when they occur,which leads to advantageous characteristics such as an ultra-low latency response.We first propose a set of effective biometric features describing the motion,speed,energy and frequency signal of eye blinks based on the microsecond temporal resolution of event densities.We then train the ensemble model and non-ensemble model with our Neuro Biometric dataset for biometrics authentication.The experiments show that our system is able to identify and verify the subjects with the ensemble model at an accuracy of 0.948 and with the non-ensemble model at an accuracy of 0.925.The low false positive rates(about 0.002)and the highly dynamic features are not only hard to reproduce but also avoid recording visible characteristics of a user's appearance.The proposed system sheds light on a new path towards safer authentication using neuromorphic vision sensors.

关键词： Biometrics biometric autentication event-based vision neuromorphic vision

COG1-A master transcription factor regulating photosynthesis

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Molecular Plant 2023年第12期16卷 1890-1892页

作者： Jan Ferdinand Penzler Tatjana Kleine Dario Leister Plant Molecular Biology Faculty of BiologyLudwig-Maximilians-University(LMU)MunichMartinsried-Planegg82152 MunichGermany

COG1 CANENHANCE PHOTOSYNTHESIS AND PLANT GROWTH Recently,Wei et al.(2023)report that overexpression or a gain-offunction mutation of COGWHEEL1(COG1)gene,which encodes a transcription factor belonging to the DNA binding with one finger(Dof)protein family,can increase growth and biomass in Arabidopsis thaliana.Similarly,overexpression of any of its six paralogs,CYCLING DOF FACTORS 1-6,also leads to increased growth and biomass production,implying that these seven Dof proteins have partially redundant functions.Accordingly,several of the seven Dof genes must be knocked out to significantly reduce growth and biomass production;the septuple mutants show severely reduced growth but are still viable.COG1 positively modulates the accumulation of transcripts of several photosynthetic genes and,in turn,the corresponding proteins and binds to the promoters of most LHC genes.Changes in gene expression related to photosynthesis increase the efficiency of photosynthesis.Overexpression of two closely related Brassica rapa COG1 homologs in A.thaliana or Arabidopsis COG1 in Nicotiana benthamiana,could cause an increase in growth and biomass production.These results indicate that the effects of COG1 are not confined to a specific species.

关键词： species. functions. Arabidopsis

Minor Pressure Differences within the Fontan-Anastomosis in Patients with Total Cavopulmonary Connection by 4D-Flow Magnetic Resonance Imaging

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Congenital Heart Disease 2023年第4期18卷 461-474页

作者： Nerejda Shehu Christian Meierhofer Anja Hennemuth Markus Hüllebrand Pavlo Yevtushenko Peter Ewert Stefan Martinoff Heiko Stern Department of Congenital Heart Disease and Pediatric Cardiology German Heart Center MunichTechnical University of MunichMunichGermany Fraunhofer Institute for Digital Medicine—MEVIS BerlinGermany Institute for Cardiovascular Computer-Assisted Medicine CharitéUniversitätsmedizinBerlinGermany Department of Radiology German Heart Center MunichTechnical University of MunichMunichGermany

Background: Pressure measurement in total cavopulmonary connection (TCPC) patients is a domain of cardiaccatheterization. 4D velocity encoded cardiovascular magnetic resonance (4D–flow MRI) offers an alternative forassessment of even minor pressure differences. The scope of this study was to measure even minor pressure differencesin the anastomosis of TCPC patients, who are clinically uncompromised. Methods: Twenty-four patients(median 15 years [8;34]) with TCPC were studied prospectively by 4D-flow MRI. Pressure differences betweensuperior vena cava (SVC) and extracardiac conduit (C) to both right pulmonary artery (RPA) and left pulmonaryartery (LPA) were assessed. Small fluid obstructions as vortices within the anastomosis were detected by flowpathlines from 4D-flow MRI. In two patients pressure differences were calculated also by computational flowdynamics (CFD) as a plausibility check for the order of magnitude. Results: Median values of pressure differencesin the anastomosis between SVC and RPA were 0.63 (0.21–2.1) mmHg, between C and RPA 0.67 (0.3–2.2)mmHg, between SVC and LPA 0.8 (0.3–2.4) mmHg and between C and LPA 0.7 (0.2–1.9) mmHg. Patients withpotential flow obstruction (stents, occluder, vortices) had significantly higher gradients at the anastomosis (p <0.05) than patients without potential obstructions, although the absolute values were small. CFD- and measurement-based pressure difference showed good agreement. Conclusion: 4D-flow MRI is able to detect minor pressuredifferences within the Fontan circuit even in patients with apparently satisfactory TCPC. Slightly higherpressure differences are due to the presence of small flow obstruction.

关键词： 4D-flow MRI pressure differences TCPC Fontan

Pharmacological drug screening to inhibit uveal melanoma metastatic cells either via EGF-R, MAPK, mTOR or PI3K

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International Journal of Ophthalmology(English edition) 2022年第10期15卷 1569-1576页

作者： Stefan Kassumeh Sebastian Arrow AndréKafka Nikolaus Luft Siegfried G.Priglinger Armin Wolf Kirsten Eibl-Lindner Christian M.Wertheimer Department of Ophthalmology University HospitalLMU MunichMunich 80336Germany Department of Ophthalmology University HospitalUniversity UlmUlm 89075Germany

AIM: To screen five potential pharmacological substances specifically targeting EGF-R, MAPK, mTOR, or PI3K for their antiproliferative effects, possible impact on cell viability, as well as cell death rates on three different uveal melanoma metastasis cell lines in vitro. METHODS: Three different uveal melanoma metastasis cell lines(OMM2.5, OMM2.3, and OMM1), that originated from human hepatic and subcutaneous metastasis, were exposed to inhibitors of different targets: erlotinib(EGF-R), everolimus(mTOR), selumetinib(MAPK), trametinib(MAPK) or the alkylphosphocholine erufosine(PI3K). Cell viability was assessed with a 2,3-bis-(2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5-carboxanilide(XTT) dye reduction assay after 24 h of treatment. Antiproliferative effects were evaluated separately after a 72-hour incubation of the cells with the pharmacological substance. Subsequently, the IC_(50) was calculated. Tumor cell death was investigated using a double stain apoptosis detection assay. RESULTS: Selumetinib, trametinib, and erufosine significantly decreased cell viability of all OMM cell lines(P<0.04). In addition, selumetinib and trametinib showed a significant inhibition of cell proliferation(P<0.05). Everolimus and erlotinib solely inhibited cell proliferation at the used concentrations(P<0.05). Besides an increase of necrotic cells after erufosine treatment(P<0.001), no changes in the number of dead cells for the other substances were observed.CONCLUSION: The preliminary drug screening demonstrates five new candidates, successfully targeting the canonical MAPK/ERK and PI3K/AKT/m TOR pathways in uveal melanoma metastasis cells in vitro. Hence, these findings provide an experimental basis to explore future single or combined therapy strategies for metastatic uveal melanoma.

关键词： uveal melanoma selumetinib trametinib erufosine erlotinib