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Current Zoology 2024年第1期70卷 1-12页

作者： Lucia V.Sommaro Juan J.Martinez Marina B.Chiappero andrea R.Steinmann Cristina N.Gardenal JoséW.Priotto Laboratorio de Ecologia Evolutiva y Biogeografia Instituto de Ecorregiones Andinas(INECoA)Universidad Nacional de Jujuy-Consejo Nacional de Investigaciones Cientificas y Tecnicas(CONICET)San Salvador de JujuyJujuyArgentina Instituto de Diversidad y Ecologia Animal(IDEA) Consejo Nacional de Investigaciones Cientificas y Técnicas(CONICET)and Universidad Nacionalde CordobaCordobaArgentina Catedra de Genética de Poblaciones y Evolucion Facultad de Ciencias ExactasFisicas y NaturalesUniversidad Nacional de CordobaCordobaArgentina Grupo de Investigaciones en Ecologia Poblacional y Comportamental(GIEPCO) Instituto de Ciencias de la TierraBiodiversidad y Ambiente(ICBiA)Universidad Nacional de Rio Cuarto-Consejo Nacional de Investigaciones Cientificas y Técnicas(CONICET)Rio CuartoCordobaArgentina

The sex-biased dispersal and kinship dynamics are important factors shaping the spatial distribution of individuals and are key parameters affecting a variety of ecological and evolutionary ***,we studied the spatial distribution of related individuals within a population of corn mice Calomys musculinus in a seasonal cycle to infer dispersal *** sampling was carried out from spring 2005 to winter 2006 in field borders of intensively managed *** data from 346 individuals with 9 microsatellites showed spatial genetic structure was weak for males,but not for *** results indicate a complex spatial kinship dynamic of related females across all ***,contrary to our expectations,dispersal distances decrease with the increase of the population ***,male dispersal distances were greater when population abundance increased and thus the availability of active *** disperse greater distances to mate and sire offspring with distant females as a possible inbreeding avoidance *** study shows that *** is capable of much greater scattering distances than previously reported and that dispersal occurs fluidly and without barriers across the *** indirect benefit of dispersal on individual fitness could be related to relaxing the competition in the natal area and increasing the mating *** study highlights the value of combining genetic relatedness,fieldwork observations,and behavioral data to estimate dispersal at a fine geographical scale.

关键词： dispersal distances kinship dynamics microsatellite small mammals spatial autocorrelation

Current status and future perspectives on stem cell transplantation for spinal cord injury

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World Journal of Transplantation 2024年第1期14卷 189-209页

作者： Edoardo Agosti Marco Zeppieri andrea Pagnoni Marco Maria Fontanella Alessandro Fiorindi Tamara Ius Pier Paolo Panciani Division of Neurosurgery Department of Medical and Surgical SpecialtiesRadiological Sciences and Public HealthUniversity of BresciaBrescia 25123Italy Department of Ophthalmology University Hospital of UdineUdine 33100Italy Department of Medical and Surgical Specialties Radiological Sciencesand Public HealthUniversity of BresciaBrescia 25123BSItaly Neurosurgery Unit Head-Neck and NeuroScience DepartmentUniversity Hospital of UdineUdine 33100Italy

BACKGROUND Previous assessments of stem cell therapy for spinal cord injuries(SCI)have encountered challenges and *** research primarily emphasizes safety in early-phase clinical trials,while systematic reviews prioritize effectiveness,often overlooking safety and translational *** situation prompts inquiries regarding the readiness for clinical *** To offer an up-to-date systematic literature review of clinical trial results concerning stem cell therapy for *** A systematic search was conducted across major medical databases[PubMed,Embase,Reference Citation Analysis(RCA),and Cochrane Library]up to October 14,*** search strategy utilized relevant Medical Subject Heading(MeSH)terms and keywords related to"spinal cord","injury","clinical trials","stem cells","functional outcomes",and"adverse events".Studies included in this review consisted of randomized controlled trials and non-randomized controlled trials reporting on the use of stem cell therapies for the treatment of *** In a comprehensive review of 66 studies on stem cell therapies for SCI,496 papers were initially identified,with 237 chosen for full-text *** them,236 were deemed eligible after excluding 170 for various *** studies encompassed 1086 patients with varying SCI levels,with cervical injuries being the most common(42.2%).Bone marrow stem cells were the predominant stem cell type used(71.1%),with various administration ***-up durations averaged around 84.4 *** 32.7%of patients showed functional improvement from American spinal injury association Impairment Scale(AIS)A to B,40.8%from AIS A to C,5.3%from AIS A to D,and 2.1%from AIS B to *** improvements were observed in 30.9%of patients.A relatively small number of adverse events were recorded,including fever(15.1%),headaches(4.3%),muscle tension(3.1%),and dizziness(2.6%),highlighting the potential for SCI recovery with stem cell *** In

关键词： Spinal cord injury Stem cell therapy Adverse events Functional outcomes Systematic review

Genome-wide association mapping and genomic prediction of stalk rot in two mid-altitude tropical maize populations

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The Crop Journal 2024年第2期12卷 558-568页

作者： Junqiao Song Angela Pacheco Amos Alakonya andrea S.Cruz-Morales Carlos Muoz-Zavala Jingtao Qu Chunping Wang Xuecai Zhang Felix San Vicente Thanda Dhliwayo College of Agronomy Henan University of Science and TechnologyLuoyang 471000HenanChina International Maize and Wheat Improvement Center(CIMMYT) El BatanMexico Anyang Academy of Agricultural Sciences Anyang 455000HenanChina CIMMYT-China Specialty Maize Research Center Crop Breedingand Cultivation Research InstituteShanghai Academy of Agricultural SciencesShanghai 201403China

Maize stalk rot reduces grain yield and *** about the genetics of resistance to maize stalk rot could help breeders design effective breeding strategies for the *** prediction may be a more effective breeding strategy for stalk-rot resistance than marker-assisted *** performed a genome-wide association study(GWAS)and genomic prediction of resistance in testcross hybrids of 677 inbred lines from the Tuxpe?o and non-Tuxpe?o heterotic pools grown in three environments and genotyped with 200,681 single-nucleotide polymorphisms(SNPs).Eighteen SNPs associated with stalk rot shared genomic regions with gene families previously associated with plant biotic and abiotic *** favorable SNP haplotypes traced to tropical than to temperate progenitors of the inbred *** genotype-by-environment(G×E)interaction increased genomic prediction accuracy.

关键词： Maize stalk rot Genome-wide association mapping Haplotype analysis Genomic prediction G×E interaction

Corrigendum to ‘A novel STK11 gene mutation (c.388dupG,***130Glyfs∗33) in a Peutz-Jeghers family and evidence of higher gastric cancer susceptibility associated with alterations in STK11 region aa 107–170’ [Gene Dis (9) (2022) 288–291]

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Genes & Diseases 2024年第2期11卷 1082-1083页

作者： Giovanna Forte Filomena Cariola Katia De Marco andrea Manghisi Filomena Anna Guglielmi Raffaele Armentano Giuseppe Lippolis Pietro Giorgio Cristiano Simone Vittoria Disciglio Medical Genetics National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Histopathology Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of General Surgery National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Gastroenterology and Digestive Endoscopy Unit National Institute of Gastroenterology “S. de Bellis” Research Hospital Castellana Grotte Bari 70013 Italy Department of Biomedical Sciences and Human Oncology (DIMO) Medical Genetics University of Bari Aldo Moro Piazza Umberto I Bari 70124 Italy

Development,validation,and transportability of several machine-learned,non-exercise-based VO_(2max)prediction models for older adults

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Journal of Sport and Health Science 2024年第5期13卷 611-620页

作者： Benjamin T.Schumacher Michael J.LaMonte andrea Z.LaCroix Eleanor M.Simonsick Steven P.Hooker Humberto Parada Jr. John Bellettiere Arun Kumar Herbert Wertheim School of Public Health and Human Longevity Science University of California San DiegoLa JollaCA 92093USA Department of Epidemiology and Environmental Health School of Public Health and Health ProfessionsUniversity at BuffaloState University of New YorkBuffaloNY 14214USA Translational Gerontology Branch Intramural Research ProgramNational Institute on AgingNational Institutes of HealthBaltimoreMD 21225USA College of Health and Human Services San Diego State UniversitySan DiegoCA 92182USA Division of Epidemiology and Biostatistics School of Public HealthSan Diego State UniversitySan DiegoCA 92182USA University of California San Diego Moores Cancer Center La JollaCA 92093USA Computer Science and Engineering and Halicioglu Data Science Institute University of California San DiegoLa JollaCA 92093USA

Background:There exist few maximal oxygen uptake(VO_(2max))non-exercise-based prediction equations,fewer using machine learning(ML),and none specifically for older *** direct measurement of VO_(2max)is infeasible in large epidemiologic cohort studies,we sought to develop,validate,compare,and assess the transportability of several ML VO_(2max)prediction ***:The Baltimore Longitudinal Study of Aging(BLSA)participants with valid VO2_(max)tests were included(n=1080).Least absolute shrinkage and selection operator,linear-and tree-boosted extreme gradient boosting,random forest,and support vector machine(SVM)algorithms were trained to predict VO_(2max)*** developed these algorithms for:(a)the overall BLSA,(b)by sex,(c)using all BLSA variables,and(d)variables common in aging ***,we quantified the associations between measured and predicted VO_(2max)and ***:The age was 69.0±10.4 years(mean±SD)and the measured VO_(2max)was 21.6±5.9 mL/kg/*** absolute shrinkage and selection operator,linear-and tree-boosted extreme gradient boosting,random forest,and support vector machine yielded root mean squared errors of 3.4 mL/kg/min,3.6 mL/kg/min,3.4 mL/kg/min,3.6 mL/kg/min,and 3.5 mL/kg/min,*** quartiles of measured VO_(2max)showed an inverse gradient in mortality *** VO_(2max)variables yielded similar effect estimates but were not robust to ***:Measured VO_(2max)is a strong predictor of *** ML can improve the accuracy of prediction as compared to simpler approaches but estimates of association with mortality remain sensitive to *** studies should seek to reproduce these results so that VO_(2max),an important vital sign,can be more broadly studied as a modifiable target for promoting functional resiliency and healthy aging.

关键词： Cardiorespiratory fitness Prediction algorithms Epidemiology Mortality

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?

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Neural Regeneration Research 2025年第1期20卷 130-138页

作者： Ilaria Martinelli Jessica Mandrioli andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania Department of Neurosciences Azienda Ospedaliero Universitaria di ModenaModenaItaly Clinical and Experimental Medicine Ph.D.Program University of Modena and Reggio EmiliaModenaItaly Department of Biomedical Metabolic and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly Neurology Unit Neuromotor&Rehabilitation DepartmentAzienda USL-IRCCS di Reggio EmiliaReggio EmiliaItaly

Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal *** the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of *** superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized *** numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this *** this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during *** multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS.

关键词： amyotrophic lateral sclerosis(ALS) autonomic extramotor genotype-phenotype multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 urinary vocal cord palsy

Exploring the genetic control of sweat gland characteristics in beef cattle for enhanced heat tolerance

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Journal of Animal Science and Biotechnology 2024年第5期15卷 1820-1831页

作者： Aakilah S.Hernandez Gabriel A.Zayas Eduardo E.Rodriguez Kaitlyn M.Sarlo Davila Fahad Rafiq andrea N.Nunez Cristiane Goncalves Titto Raluca G.Mateescu Department of Animal Science North Carolina State UniversityRaleighNCUSA Department of Animal Sciences University of FloridaGainesvilleFLUSA. Ruminant Diseases and Immunology Research Unit National Animal Disease CentersUnited States Department of Agriculture1920 Dayton AvenueAmesIA 50010USA. Department of Animal Science Iowa StateAmesIAUSA School of Animal Sciences and Food Engineering University of Sao PauloAv Duque de Caxias Norte 225PirassunungaSao Paulo 13635‑900Brazil

Background Thermal stress in subtropical regions is a major limiting factor in beef cattle production systems with around$369 million being lost annually due to reduced *** stress causes numerous physiological and behavioral disturbances including reduced feed intake and decreased production *** utilize various physiological mechanisms such as sweating to regulate internal *** in these traits can help identify genetic variants that control sweat gland properties and subsequently allow for genetic selection of cattle with greater *** This study used 2,401 Brangus cattle from two commercial ranches in *** phenotypes that contribute to an animal's ability to manage heat stress were calculated from skin biopsies and included sweat gland area,sweat gland depth,and sweat gland *** animals were genotyped with the Bovine GGP F250K,and BLUPF90 software was used to estimate genetic parameters and for Genome Wide Association *** Sweat gland phenotypes heritability ranged from 0.17 to 0.42 indicating a moderate amount of the phenotypic variation is due to genetics,allowing producers the ability to select for favorable sweat gland properties.A weighted single-step GWAS using sliding 10 kb windows identified multiple quantitative trait loci(QTLs)explaining a significant amount of genetic *** located on BTA7 and BTA12 explained over 1.0%of genetic variance and overlap the ADGRV1 and CCDC168 genes,*** variants identified in this study are implicated in processes related to immune function and cellular proliferation which could be relevant to heat *** of Origin Alleles(BOA)were predicted using local ancestry in admixed populations(LAMP-LD),allowing for identification of markers'origin from either Brahman or Angus ancestry.A BOA GWAS was performed to identify regions inherited from particular ancestral breeds that might have a significant impact on sweat gland pheno

关键词： GWAS Heritability Skin Thermotolerance

Identification of galectin-3 as a novel potential prognostic/predictive biomarker and therapeutic target for cerebral cavernous malformation disease

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Genes & Diseases 2024年第1期11卷 67-71页

作者： Souvik Kar andrea Perrelli Kiran Kumar Bali Raffaella Mastrocola Arpita Kar Bushra Khan Luis Gand Arnab Nayak Christian Hartmann Wolfram SKunz Amir Samii Helmut Bertalanffy Saverio Francesco Retta International Neuroscience Institute Rudolf-PichlmayrStrasse 4Hannover 30625Germany Department of Clinical and Biological Sciences University of TorinoOrbassano(TO)10043Italy CCM Italia Research Network National Coordination Center at the Department of Clinical and Biological SciencesUniversity of TorinoOrbassano(TO)10043Italy Department of Experimental Pain Research Mannheim Center for Translational Neuroscience(MCTN)Medical Faculty MannheimHeidelberg UniversityMannheim 68167Germany Department of Kidney Liver and Metabolic DiseasesChildren’s HospitalHannover Medical SchoolHannover 30625Germany Ricarda-Huch-Street-10B Hannover 30880Germany Institute of Molecular and Cell Physiology Hannover Medical SchoolHannover 30625Germany Department of Neuropathology Institute of PathologyHannover Medical SchoolHannover 30625Germany Institute of Experimental Epileptology and Cognition Research and Department of Epileptology University Hospital BonnVenusberg-Campus 1Bonn 53127Germany epartment of Pharmacology and Physiology University of Rochester Medical CenterRochesterNY 14642USA

cerebrovascular disease of genetic origin characterized by abnormally dilated capillaries and a wide spectrum of symptoms,including headaches,seizures,neurological deficits,and intracerebral *** unpredictable clinical course and the current lack of therapies make the identification of prognostic and predictive biomarkers an imperative research challenge.1 Herein,we provide evidence that galectin-3(Gal-3),a major tissue and circulating biomarker of oxidative stress and inflammation,is significantly up-regulated both in CCM patients and ***,wholetranscriptome sequencing,qRT-PCR,and Western blotting studies demonstrated a significant up-regulation of Gal-3 expression levels both in surgical CCM specimens and in blood samples of CCM patients.

关键词： inflammation cerebral dilated

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability:Insights from McArdle disease

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Journal of Sport and Health Science 2024年第3期13卷 398-408页

作者： Pedro L.Valenzuela Alfredo Santalla Lidia B.Alejo andrea Merlo Asuncion Bustos Laura Castellote-Belles Roser Ferrer-Costa Nicola A.Maffiuletti David Barranco-Gil Tomas Pinos Alejandro Lucia Physical Activity and Health Research Group(“PaHerg”) Research Institute of Hospital“12 de Octubre”(“imas12”)Madrid 28041Spain Department of Systems Biology University of AlcalaMadrid 28871Spain Department of Sport and Computer Science Section of Physical Education and SportsFaculty of SportUniversidad Pablo de OlavideSevilla 41013Spain EVOPRED Research Group Universidad Europea de CanariasTenerife 38300Spain Faculty of Sport Sciences Universidad Europea de MadridMadrid 28670Spain Gait&Motion Analysis Laboratory Sol et Salus HospitalTorre Pedrera di Rimini(RN)47922Italy Department of Clinical Biochemistry Laboratoris ClınicsHospital Universitari Vall d’HebronBarcelona 08035Spain Human Performance Lab Schulthess ClinicZurich 8008Switzerland Biomedical Research Networking Center on Rare Disorders(CIBERER) Barcelona 08035Spain Mitochondrial and Neuromuscular Disorders Unit Vall d’Hebron Institut de RecercaUniversitat Autonoma de BarcelonaBarcelona 08035Spain

Background:This study aimed to determine the effect of different carbohydrate(CHO)doses on exercise capacity in patients with McArdle disease—the paradigm of“exercise intolerance”,characterized by complete muscle glycogen unavailability—and to determine whether higher exogenous glucose levels affect metabolic responses at the McArdle muscle cell(in vitro)***:Patients with McArdle disease(n=8)and healthy controls(n=9)underwent a 12-min submaximal cycling constant-load bout followed by a maximal ramp test 15 min after ingesting a non-caloric *** a randomized,double-blinded,cross-over design,patients repeated the tests after consuming either 75 g or 150 g of CHO(glucose:fructose=2:1).Cardiorespiratory,biochemical,perceptual,and electromyographic(EMG)variables were ***,glucose uptake and lactate appearance were studied in vitro in wild-type and McArdle mouse myotubes cultured with increasing glucose concentrations(0.35,1.00,4.50,and 10.00 g/L).Results:Compared with controls,patients showed the“classical”second-wind phenomenon(after prior disproportionate tachycardia,myalgia,and excess electromyographic activity during submaximal exercise,all p<0.05)and an impaired endurance exercise capacity(-51%ventilatory threshold and55%peak power output,both p<0.001).Regardless of the CHO dose(p<0.05 for both doses compared with the placebo),CHO intake increased blood glucose and lactate levels,decreased fat oxidation rates,and attenuated the second wind in the ***,only the higher dose increased ventilatory threshold(+27%,p=0.010)and peak power output(+18%,p=0.007).In vitro analyses revealed no differences in lactate levels across glucose concentrations in wild-type myotubes,whereas a doseresponse effect was observed in McArdle ***:CHO intake exerts beneficial effects on exercise capacity in McArdle disease,a condition associated with total muscle glycogen *** of these benefits are dose dependent.

关键词： Endurance Glycogen storage disease Glycogenosis Nutrition Supplement