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Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing

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Neural Regeneration Research 2021年第3期16卷 475-481页

作者： Chiara Di Resta Giovanni Battista Pipitone Paola Carrera maurizio ferrari Vita-Salute San Raffaele University MilanItaly Unit of Genomics for Human Disease Diagnosis Division of Genetics and Cell BiologyIRCCS San Raffaele Scientific InstituteMilanItaly Clinical Molecular Biology Laboratory IRCCS San Raffaele HospitalMilanItaly

Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics,allowing for the detection of sequence variants with so far unprecedented large scale,mainly in genetically heterogenous diseases,such as neurological *** is a fast-moving field,where new wet enrichment protocols and bioinformatics tools are constantly being developed to overcome initial *** the as yet undiscussed advantages,however,there are still some challenges in data analysis and the interpretation of *** this review,we address the current state of next generation sequencing diagnostic testing for inherited human disorders,particularly giving an overview of the available high-throughput sequencing approaches;including targeted,whole-exome and whole-genome sequencing;and discussing the main critical aspects of the bioinformatic process,from raw data analysis to molecular diagnosis.

关键词： clinical practice genetic testing neurogenesis next generation sequencing sequencing approaches variant interpretation

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Toward scalable docker-based emulations of blockchain networks for research and development

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Blockchain(Research and Applications) 2024年第3期5卷 168-183页

作者： Diego Pennino maurizio Pizzonia Universitàdegli Studi della Tuscia Dipartimento di EconomiaIngegneriaSocietàe Impresa01100 ViterboItaly Universitàdegli Studi Roma Tre Dipartimento di Ingegneria CivileInformatica e delle Tecnologie Aeronautiche00146 RomeItaly

Blockchain,like any other complex technology,needs a strong testing methodology to support its evolution in both research and development *** up meaningful tests for permissionless blockchain technology is a notoriously complex task for several reasons:software is complex,a large number of nodes are involved,the network is non-ideal,*** usually adopt small virtual laboratories or costly real devnets based on real *** usually prefer simulations of a large number of nodes based on simplified *** this paper,we aim to obtain the advantages of both approaches,i.e.,performing large,realistic,inexpensive,and flexible experiments,using real blockchain software within a virtual *** do that,we address the challenge of running large blockchain networks in a single physical machine,leveraging Linux and *** analyze a number of problems that arise when large blockchain networks are emulated,and we provide technical solutions for all of ***,we describe two experiences of emulating fairly large blockchain networks on a single machine:adopting both research-oriented and production-oriented software and involving more than 3000 containers.

关键词： Blockchain Blockchain emulation Scalability Docker Research and development experiments

Glucagon-like peptide 1 agonists are potentially useful drugs for treating metabolic dysfunction-associated steatotic liver disease

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World Journal of Gastroenterology 2024年第30期30卷 3541-3547页

作者： maurizio Soresi Lydia Giannitrapani Department of Health Promotion Sciences Maternal and Infant CareInternal Medicine and Medical Specialties(PROMISE)University of PalermoPalermo 90127Italy

In this editorial,we comment on Yin et al’s recently published Letter to the *** particular,we focus on the potential use of glucagon-like peptide 1 receptor agonists(GLP-1RAs)alone,but even more so in combination therapy,as one of the most promising therapies in metabolic dysfunction-associated steatotic liver disease(MASLD),the new definition of an old condition,non-alcoholic fatty liver disease,which aims to better define the spectrum of steatotic *** is well known that GLP-1RAs,having shown outstanding performance in fat loss,weight loss,and improvement of insulin resistance,could play a role in protecting the liver from progressive *** clinical trials have shown that,among GLP-1RAs,semaglutide is a safe,well-studied therapeutic choice for MASLD patients;however,most studies demonstrate that,while semaglutide can reduce steatosis,including steatohepatitis histological signs(in terms of inflammatory cell infiltration and hepatocyte ballooning),it does not improve *** of therapies with different but complementary mechanisms of action are considered the best way to improve efficiency and slow disease progression due to the complex pathophysiology of the *** particular,GLP-1RAs associated with antifibrotic drug therapy,dual glucose-dependent insulinotropic polypeptide(GIP)/GLP-1RA or GLP-1 and glucagon RAs have promoted greater improvement in hepatic steatosis,liver biochemistry,and non-invasive fibrosis tests than ***,although to date there are no definitive indications from international drug agencies,there is the hope that soon the therapeutic lines in the most advanced phase of study will be able to provide a therapy for MASLD,one that will certainly include the use of GLP-1RAs as combination therapy.

关键词： Non-alcoholic fatty liver disease Glucagon-like peptide 1 Semaglutide Liver fibrosis Therapy

Beyond functional MRI signals:molecular and cellular modifiers of the functional connectome and cognition

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Neural Regeneration Research 2024年第5期19卷 937-938页

作者： Lorenzo Pini Alessandro Salvalaggio maurizio Corbetta Padova Neuroscience Center University of PadovaItaly Veneto Institute of Molecular Medicine VIMMPadovaItaly Department of Neuroscience University of PadovaItaly

Our brain is constantly *** at rest,the brain carries out essential functions such as maintenance of resting potentials,subthreshold synaptic activity,and spiking activity related to information *** resting activity can be assessed with several in vivo tools,such as resting-state functional magnetic resonance *** technique measures subtle changes in blood flow,volume,and oxygenation that occur over *** vascular in nature,resting-state functional magnetic resonance imaging is considered a reliable proxy of neural activity and several studies have shown that the brain is functionally divided into interacting neural networks called the“functional connectome”.

关键词： functional neural measures

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Dexamethasone and N-acetylcysteine before transarterial chemoembolization in hepatocellular carcinoma:A Western perspective

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World Journal of Gastroenterology 2024年第31期30卷 3635-3639页

作者： Marco Biolato maurizio Pompili Department of Medical and Surgical Sciences CEMAD Digestive Disease CenterFondazione Policlinico Universitario Agostino Gemelli IRCCSRome 00168Italy Department of Translational Medicine and Surgery Catholic University of Sacred HeartRome 00168LazioItaly

Post-embolization syndrome(PES)is the most common complication in patients with hepatocellular carcinoma treated with transarterial *** strategies have been evaluated to reduce the incidence of PES,but no standard prevention guidelines currently *** a single-center,placebo-controlled trial,Simasingha et al evaluated the prophylactic administration of a combination of dexamethasone and N-acetylcysteine and documented a significant reduction in the incidence of PES(from 80%to 6%),of post-procedural liver decompensation(from 14%to 0%),and a shorter hospital stay(4 days vs 6 days),alongside an acceptable safety *** results of this study raise several controversial points regarding their applicability in the Western *** the West,there is a greater and increasing prevalence of metabolic and alcoholic etiologies of liver cirrhosis,so a not negligible number of patients with type II diabetes or hypertension would be excluded from high-dosage dexamethasone ***,in the West,there is a preferred use of drug-eluting beads loaded with doxorubicin,which are associated with a lower incidence of PES.A study on prophylaxis with dexamethasone and/or N-acetylcysteine in a Western population is hopefully awaited.

关键词： Chemotherapeutic drugs Lipiodol Post-embolization syndrome Prevention Prophylaxis

Update on the reciprocal interference between immunosuppressive therapy and gut microbiota after kidney transplantation

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World Journal of Transplantation 2024年第1期14卷 72-83页

作者： maurizio Salvadori Giuseppina Rosso Department of Renal Transplantation Careggi University HospitalFlorence 50139TuscanyItaly Division of Nephrology San Giovanni di Dio HospitalFlorence 50143ToscanaItaly

Gut microbiota is often modified after kidney *** principally happens in the first period after *** and,most of all,immunosuppressive drugs are the main *** relationship between immunosuppressive drugs and the gut microbiota is *** one side immunosuppressive drugs modify the gut microbiota,often generating dysbiosis;from the other side microbiota may interfere with the immunosuppressant pharmacokinetics,producing products more or less active with respect to the original *** phenomena have influence over the graft outcomes and clinical consequences as rejections,infections,diarrhea may be caused by the dysbiotic ***,calcineurin inhibitors such as tacrolimus and cyclosporine,mycophenolate mofetil and mTOR inhibitors are the immunosuppressive drugs whose effect on the gut microbiota is better *** contrast is well known how the gut microbiota may interfere with glucocorticoids,which may be transformed into *** may be transformed by microbiota into a product called M1 that is 15-fold less active with respect to *** pro-drug mycophenolate mofetil is normally transformed in mycophenolic acid that according the presence or not of microbes producing the enzyme glucuronidase,may be transformed into the inactive product.

关键词： Immunosuppressive therapy Kidney transplantation Gut microbiota Dysbiosis Pathobionts Graft outcomes

Epoché as the Breakthrough of the Natural Attitude

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Philosophy Study 2024年第3期14卷 138-144页

作者： maurizio Trudu Universitàdegli Studi di Ferrara FerraraItaly Bergische Universität Wuppertal WuppertalGermany

The following contribution aims to interpret the methodical device of Husserl’s epochéin light of the concept of *** the epochéis a theoretical device directed towards the suspension of the natural attitude,I will first attempt to define the concept of natural ***,I will seek to understand the rich meaning of the concept of epoché.Finally,I will explore how this element is related to the concept of *** other words,I will endeavour to clarify how the epochédetermines a breakthrough of the natural attitude,which is not to be understood as“annihilation”or“destruction”but as a traversal.

关键词： Edmund Husserl epoché natural attitude phenomenology

Inertia and Spectral Symmetry for the Eccentricity Matrices of Clique Trees

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Acta Mathematicae Applicatae Sinica 2024年

作者： Xiao-hong LI Jian-feng WANG maurizio BRUNETTI School of Mathematics and Statistics Shandong University of Technology Basic Education Department Weifang Engineering Vocational College Department of Mathematics and Applications University Federico II'

The eccentricity matrix E(G) of a connected graph G is obtained from the distance matrix of G by leaving unchanged the largest nonzero entries in each row and each column,and replacing the remaining ones with *** this paper,we consider the set CT of clique trees whose blocks contain at most two cut-vertices of the clique *** with studying the structural properties of a clique tree in CT,we prove its eccentricity matrix to be irreducible,and then determine its inertia showing that every graph in CT with more than four vertices and odd diameter has two positive and two negative *** E-eigenvalues and negative E-eigenvalues turn out to be equal in number even for graphs in CT with even diameter;that shared cardinality also counts the‘diametrally distinguished’***,we prove that the spectrum of the eccentricity matrix of a clique tree G in CT is symmetric with respect to the origin if and only if G has an odd diameter and exactly two adjacent central *** results generalize those achieved on trees by *** and *** in 2022.

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Propolis as a promising functional ingredient: A comprehensive review on extraction， bioactive properties， bioavailability， and industrial applications

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Food Science and Human Wellness 2024年

作者： Mengyao Liu Xiangxin Li Hualei Chen Fei Pan Xing Zheng maurizio Battino Wenli Tian Wenjun Peng State Key Laboratory of Resource Insects， Institute of Apicultural Research， Chinese Academy of Agricultural Sciences School of Food and Biological Engineering， Jiangsu University Department of Clinical Sciences， Faculty of Medicine， Polytechnic University of Marche

Propolis is a resinous complex mixture made from plant resins collected by worker bees and mixed with their own secretions. It is rich in polyphenols and flavonoids and thus has a wide range of biological activities and is considered a functional source for promoting human health. However， propolis and its bioactive compounds have poor water solubility， rapid and intense metabolism， and low oral bioavailability， which limits their wide application. In this paper， the main bioactive substances in propolis were summarized， and the biological characteristics and therapeutic potential of propolis and its bioactive substances were discussed. In addition， this paper discussed the factors affecting the bioavailability of propolis and its functional ingredients， focusing on the research progress in improving the bioavailability and bioactivity of propolis and its functional ingredients using nanoencapsulation technology. Finally， the current situation of the global propolis market and the applications of propolis products in the pharmaceutical， food， cosmetic and other industrial fields are discussed， providing useful references for promoting the development of the propolis industry.

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