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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum sophia schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

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APPROXIMATING THE STATIONARY BELLMAN EQUATION BY HIERARCHICAL TENSOR PRODUCTS

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Journal of Computational Mathematics 2024年第3期42卷 638-661页

作者： Mathias Oster Leon Sallandt Reinhold schneider Technische Universität Berlin Strasse des 17.Juni 13510623 BerlinGermany

We treat infinite horizon optimal control problems by solving the associated stationary Bellman equation numerically to compute the value function and an optimal feedback *** dynamical systems under consideration are spatial discretizations of non linear parabolic partial differential equations(PDE),which means that the Bellman equation suffers from the curse of *** non linearity is handled by the Policy Iteration algorithm,where the problem is reduced to a sequence of linear equations,which remain the computational bottleneck due to their high *** reformulate the linearized Bellman equations via the Koopman operator into an operator equation,that is solved using a minimal residual *** the Koopman operator we identify a preconditioner for operator equation,which deems essential in our numerical *** overcome computational infeasability we use low rank hierarchical tensor product approximation/tree-based tensor formats,in particular tensor trains(TT tensors)and multi-polynomials,together with high-dimensional quadrature,*** controlling a destabilized version of viscous Burgers and a diffusion equation with unstable reaction term numerical evidence is given.

关键词： Feedback control Dynamic programming Hamilton-Jacobi-Bellman Tensor product approximation Variational Monte-Carlo

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Modeling displacement flow inside a full-length casing string for well cementing

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Petroleum Research 2024年第1期9卷 1-16页

作者： Hu Dai Ali Eslami Jason schneider Gefei Liu Fred Schwering Pegasus Vertex Inc.USA Laval University Canada Sanjel Energy Services Canada Athabasca Oil Corporation Canada

While computer modeling of annular displacement efficiency is widely applied in cementing engineering,modeling the displacement flow inside a casing or drill string for cementing operations has received less *** predicting displacement efficiency inside a full-length pipe is desired by cementing engineers,the attempt of developing a model with both efficiency and accuracy faces *** to computer simulators for this purpose is *** with annular flow,the displacement flow inside pipe,although within a simpler geometry and without eccentricity effect,is not simpler in physics,modelling strategy and predictability,because a variety of flow patterns and flow instabilities can develop to create complicated fluid *** this paper,we present an integrated numerical model developed to simulate displacement flows inside a full-length pipe,which connects an existing annulus model to enable complete displacement simulations of cementing *** model uses three-dimensional grid to solve fluid concentrations with degrees of mixing,and incorporates flow instability detection and flow regime *** in cementing,the model accounts for effects of pumping rate,well inclination,pipe rotation,fluid densities,rheological parameters and *** computationally efficient model does not rely on high-resolution mesh as often required by conventional Computational Fluid Dynamics models,thus it is suitable to be implemented in a cementing software for daily use by well cementing *** methodology of the model is discussed in detail in this *** validate the model,we examine simulation results against experimental results obtained in our laboratory tests and CFD simulations;acceptable agreement is found under different testing *** also presented two case studies of real cementing jobs with cement evaluation logs compared to simulation results,showing that the model can predict consistent displacement efficie

关键词： Inside pipe displacement Displacement efficiency Numerical model Primary cementing Displacement flow

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Two-photon emission from a superlattice-based superconducting light-emitting structure

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Light(Science & Applications) 2024年第7期13卷 1331-1340页

作者： Shlomi Bouscher Dmitry Panna Ronen Jacovi Fauzia Jabeen Christian schneider Sven Höfling Alex Hayat Department of Electrical Engineering TechnionHaifa 32000Israel. Technische Physik Universität WürzburgAm HublandD-97074 WürzburgGermany. Institute of Physics Carl von Ossietzky Universität OldenburgD-26111 OldenburgGermany

Superconductor-semiconductor hybrid devices can bridge the gap between solid-state-based and photonics-based quantum systems,enabling new hybrid computing schemes,offering increased scalability and *** example for a hybrid device is the superconducting light-emitting diode(SLED).SLEDs have been theoretically shown to emit polarization-entangled photon pairs by utilizing radiative recombination of Cooper ***,the twophoton nature of the emission has not been shown experimentally *** demonstrate two-photon emission in a GaAs/AlGaAs *** electroluminescence spectra reveal unique two-photon superconducting features below the critical temperature(Tc),while temperature-dependent photon-pair correlation experiments(g(2)(τ,T))demonstrate temperature-dependent time coincidences below Tc between photons emitted from the *** results pave the way for compact and efficient superconducting quantum light sources and open new directions in light-matter interaction studies.

关键词： photon quantum utilizing

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Femoral Access with Ultrasound-Guided Puncture and Z-Stitch Hemostasis for Adults with Congenital Heart Diseases Undergoing Electrophysiological Procedures

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Congenital Heart Disease 2024年第1期19卷 85-92页

作者： Fu Guan Matthias Gass Florian Berger Heiko schneider Firat Duru Thomas Wolber Arrhythmia and Electrophysiology Division Department of CardiologyUniversity Heart Center ZurichZurichSwitzerland Children’s Research Center Zurich University Children’s HospitalZurichSwitzerland Center for Integrative Human Physiology University of ZurichZurichSwitzerland

Aims:Although the application of ultrasound-guided vascular puncture and Z-stitch hemostasis to manage femoral access has been widely utilized,there is limited data on this combined application in adult congenital heart disease(ACHD)patients undergoing electrophysiological(EP)*** sought to evaluate the safety and efﬁcacy of ultrasound-guided puncture and postprocedural Z-stitch hemostasis for ACHD patients under-going EP *** and Results:The population of ACHD patients undergoing transfemoral EP pro-cedures at the University of Zurich Heart Center between January 2019 and December 2022 was observed and *** the study period,femoral access(left/right,arterial/venous)was performed under real-time ultrasound *** the end of the procedure,a single Z-stitch was performed at the puncture *** eval-uated the incidence of in-hospital complications associated with femoral access puncture in this *** 101 patients who had a total of 147 previous ipsilateral vascular punctures(mean 1.5 per person),100 patients underwent successful femoral vascular access for EP *** median age of the patients was 47±15 years and 34(34%)were male.Z-stitches were performed after the procedure in 100 patients with 303 femoral vascular accesses(mean 3 punctures per person).No patient developed vascular puncture relevant inguinal hematoma,pseudo aneurysm,arteriovenousﬁstula,venous or arterial ***:In ACHD patients undergoing EP procedures,optimal femoral access management can be achieved with ultra-sound-guided puncture and postprocedural Z-stitch hemostasis.

关键词： Congenital heart disease cardiac electrophysiology cardiac catheterization femoral access hemostasis

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Exploring the Contribution of Pharmacists in Addressing the Opioid Crisis through Naloxone Prescriptions and Pharmacist-Led Interventions

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Pharmacology & Pharmacy 2024年第2期15卷 27-38页

作者： Michelle Krey sophia Villa Nadia Gharibyar Haroon Mesdaq Just Health Experts Thornton CO USA

The opioid epidemic in the United States continues to take the lives of many individuals, with overdoses continuing to rise every year. Naloxone is an opioid antagonist that is efficacious in temporarily reversing opioid overdoses. Pharmacists play an important role in the accessibility and education of naloxone in both the community and health system settings. Recent efforts, such as co-dispensing naloxone with opioid prescriptions, naloxone training programs, and approval of naloxone to be over-the-counter, have been implemented in hopes to better control the opioid epidemic. Despite the efforts to make naloxone more accessible, there are still some barriers to overcome such as lack of training, cost, stigma, and patient refusal. This review aims to explore the contributions pharmacists have made thus far and define the barriers that still have to be resolved.

关键词： Naloxone Narcan Opioid Crisis Opioid Epidemic Pharmacy Pharmacist Interventions

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Emerging and multifaceted potential contributions of polyphenols in the management of type 2 diabetes mellitus

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World Journal of Diabetes 2024年第2期15卷 154-169页

作者： Ileana González Cristian Lindner Ivan schneider Erik Diaz Miguel Angel Morales Armando Rojas Biomedical Research Laboratories Faculty of MedicineCatholic University of MauleTalca 34600000Chile Department of Radiology Faculty of MedicineUniversity of ConcepciónConcepción 4030000Chile Centre of Primary Attention South Metropolitan Health ServiceSantiago 3830000Chile Faculty of Medicine Catholic University of MauleTalca 3460000Chile Molecular and Clinical Pharmacology Program Institute of Biomedical SciencesUniversity of ChileSantiago 8320000Chile

Type 2 diabetes mellitus(T2DM)is recognized as a serious public health concern with a considerable impact on human life,long-term health expenditures,and substantial health *** this context,the use of dietary polyphenols to prevent and manage T2DM is widely *** dietary compounds exert their beneficial effects through several actions,including the protection of pancreatic islet β-cell,the antioxidant capacities of these molecules,their effects on insulin secretion and actions,the regulation of intestinal microbiota,and their contribution to ameliorate diabetic complications,particularly those of vascular *** the present review,we intend to highlight these multifaceted actions and the molecular mechanisms by which these plant-derived secondary metabolites exert their beneficial effects on type 2 diabetes patients.

关键词： Polyphenols Antioxidants Oxidative stress Type 2 diabetes mellitus Health benefits

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Cretaceous Large Igneous Provinces (LIPs) Affect Sedimentary Processing: Jordan, Arabian Plate;NW Germany, Central Europe

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Open Journal of Geology 2024年第6期14卷 671-704页

作者： Werner schneider Elias Salameh (Retired) Department of Geology Faculty of Science Braunschweig Technical University Braunschweig Germany Department of Geology Faculty of Science University of Jordan Amman Jordan

Both the NE Gondwana Platform (Jordan) and the Carpathian/NW Europe Seaway towards the N Atlantic expose comparable sequence analytical patterns as i.e. the Maximum Flooding Surface (MSF), relating to the Arabian Shelf, throughout one of the warmest Phanerozoic Epochs. Supervolcanic Large Igneous Provinces (LIPs), (explosive island arc andesitic volcanism), Mid-Oceanic Rift Basalts (MORB), (S/N Atlantic, Arctic) and kimberlitic volcanism (W Gondwana) provided striking conditions for an immense influence (tuff, degassing, T) on the sedimentary processing throughout the Cretaceous, mainly verified by K-montmorillonite , dozens of tuff beds (predominantly in NW Germany), zeolite, cristobalite, extremely high chert occurrences as well as the reconfirming of the global anoxic event around the Cenomanian/Turonian b. (94 Ma) by a positive ∂13C-maximum (~0.5%). Thus the lithofacies spectrum (carbonate rocks, chalk, chert, porcellanite, shale) was affected by pH, Eh, T, photosynthesis, and greenhouse gases—change during varying positive/negative climate forcing. While acid sturzrain events caused the transformation of arkosic/subarkosic sediments of the hinterlands to quartz arenite cycles deposited on the Jordanian Platform during early Cretaceous, the other patterns mentioned, led to a rapid change of lithofacies through Late Cretaceous. The southward directed Neotethys transgression can be reconstructed during the Early Cretaceous by glauconite-aged tidalites that give hint on transpressional tectonics during the Upper Cenomanian east of the Dead Sea. The Cretaceous/Paleogene (K-Pg) transitional zone evidences a zone of several cumulative events (island arc-volcanism) and the Chicxulub impact, indicated by at least two extinctions phases. The southward obduction of the Palmyrides, Syria and related transtensional/transpressional strike slip tectonics (partially pull-apart structures) left a fast facies change on the Jordanian Platform.

关键词： Degassing Explosive Tuff Acid Rain Climate Forcing Photosynthesis Mineral Trans/Neoformation Lithofacies Modified Synsedimentary Tectonics

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At the Dog Park

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小学生时代（大嘴英语） 2024年第7期 50-53页

作者： Christine schneider(图) 不详

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Retrospective study of the incidence, risk factors, treatment outcomes of bacterial infections at uncommon sites in cirrhotic patients

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World Journal of Hepatology 2024年第3期16卷 418-427页

作者： Sophie Schneitler Christina schneider Markus Casper Frank Lammert Marcin Krawczyk Sören L Becker Matthias Christian Reichert Institute of Medical Microbiology and Hygiene Saarland UniversityHomburg 66421Germany Department of Medicine II Saarland University Medical CenterHomburg 66421Germany Health Sciences Hannover Medical SchoolHannover 30625Germany Laboratory of Metabolic Liver Diseases Department of GeneralTransplant and Liver SurgeryCentre for Preclinical ResearchMedical University of WarsawWarsaw 02-097Poland

BACKGROUND Bacterial infections(BI)negatively affect the natural course of *** most frequent BI are urinary tract infections(UTI),pneumonia,and spontaneousbacterial peritonitis(SBP).AIM To assess the relevance of bacterial infections beyond the commonly recognized types in patients with cirrhosis and to investigate their relationship with other clinical *** We retrospectively analyzed patients with cirrhosis and BI treated between 2015 and 2018 at our tertiary care *** were classified as typical and atypical,and clinical as well as laboratory parameters were compared between the two *** In a cohort of 488 patients with cirrhosis,we identified 225 typical BI(95 UTI,73 SBP,72 pulmonary infections)and 74 atypical BIs,predominantly cholangitis and soft tissue infections(21 each),followed by intra-abdominal BIs(n=9),cholecystitis(n=6),head/throat BIs(n=6),osteoarticular BIs(n=5),and endocarditis(n=3).We did not observe differences concerning age,sex,or etiology of cirrhosis in patients with typical vs atypical *** BIs were more common in patients with more advanced cirrhosis,as evidenced by Model of End Stage Liver Disease(15.1±7.4 vs 12.9±5.1;P=0.005)and Child-Pugh scores(8.6±2.5 vs 8.0±2;P=0.05).CONCLUSION Atypical BIs in cirrhosis patients exhibit a distinct spectrum and are associated with more advanced stages of the ***,the work-up of cirrhosis patients with suspected BI requires detailed work-up to elucidate whether typical BI can be identified.

关键词： Bacterial infection Empirical antibiotic therapy End-stage liver disease Escherichia coli Multi-resistant pathogens

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