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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-Seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Role of Air Staging in a Batch-Type Fixed Bed Biomass Combustor under Constant Primary Air

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Journal of Thermal Science 2024年第1期33卷 284-299页

作者： Awais JUNEJO Yasir M.AL-ABDELI jacobo PORTEIRO School of Engineering Edith Cowan UniversityJoondalupWA 6027Australia CINTECX Universidade de Vigo Grupo de Tecnoloxia Enerxetica(GTE)36310 VigoEspana

Staged combustion of biomass is the most suitable thermo-chemical conversion for achieving lower gaseous emissions and higher fuel conversion rates.In a staged fixed bed combustion of biomass,combustion air is supplied in two stages.In the first stage,primary air is provided below the fuel,whereas in the later stage,secondary air is supplied in the freeboard region.The available literature on the effects of air staging(secondary air location) at a constant primary air flow rate on combustion characteristics in a batch-type fixed bed combustor is limited and hence warrants further investigations.This study resolves the effect of air staging,by varying the location of secondary air in the freeboard at five secondary to total air ratios in a batch-type fixed bed combustor.Results are reported for the effects of these controlled parameters on fuel conversion rate,overall gaseous emissions(CO_(2),CO and NO_x) and temperature distributions.The fuel used throughout was densified hardwood pellets.Results show that a primary freeboard length(distance between fuel bed top and secondary air injection) of200 mm has higher fuel conversion rates and temperatures as well as lower CO emissions,at a secondary to total air ratio of 0.75 as compared to primary freeboard length of 300 mm.However,NO_x emissions were found to be lower for a primary freeboard length of 300 mm as compared to 200 mm.An increase in secondary to total air ratio from 0.33 to 0.75 resulted in higher freeboard temperatures and lower CO as well as NO_x emissions.The outcomes of this study will be helpful in the effective design of commercial scale biomass combustors for more efficient and environmentally friendly combustion.

关键词： fixed bed combustor biomass combustion air staging freeboard temperature burning rate gaseous emissions

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Pitfalls of barcodes in the study of worldwide SARSCoV-2 variation and phylodynamics

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Zoological Research 2021年第1期42卷 87-93页

作者： Jacobo Pardo-Seco Alberto Gómez-Carballa Xabier Bello Federico Martinón-Torres Antonio Salas Unidade de Xenética Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigación Sanitaria(IDIS)Hospital Clínico Universitario de Santiago(SERGAS)Galicia 15706Spain Genetics Vaccines and Pediatric Infectious Diseases Research Group(GENVIP)Instituto de Investigación Sanitaria de Santiago(IDIS)and Universidad de Santiago de Compostela(USC)Galicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clínico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain

DEAR EDITOR,Analysis of SARS-CoV-2 genome variation using a minimal number of selected informative sites conforming a genetic barcode presents several drawbacks.We show that purely mathematical procedures for site selection should be supervised by known phylogeny(i)to ensure that solid tree branches are represented instead of mutational hotspots with poor phylogeographic proprieties,and(ii)to avoid phylogenetic redundancy.We propose a procedure that prevents information redundancy in site selection by considering the cumulative informativeness of previously selected sites(as a proxy for phylogenetic-based criteria).This procedure demonstrates that,for short barcodes(e.g.,11 sites),there are thousands of informative site combinations that improve previous proposals.We also show that barcodes based on worldwide databases inevitably prioritize variants located at the basal nodes of the phylogeny,such that most representative genomes in these ancestral nodes are no longer in circulation.Consequently,coronavirus phylodynamics cannot be properly captured by universal genomic barcodes because most SARS-CoV-2 variation is generated in geographically restricted areas by the continuous introduction of domestic variants.

关键词： dynamics properly purely

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Biogeographical informativeness of Y-STR haplotypes

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Science Bulletin 2019年第19期64卷 1381-1384页

作者： Jacobo Pardo-Seco Alberto Gómez-Carballa Xabier Bello Federico Martinón-Torres Antonio Salas Unidade de Xenética Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstitutode Investigaciones Sanitarias(IDIS)Hospital Clínico Universitario de Santiago(SERGAS)GaliciaSpain Grupo de Investigación en Genética VacunasInfecciones y Pediatría(GENVIP)Universidade de Santiago de Compostelaand Hospital Clínico Universitario de Santiago(SERGAS)GaliciaSpain

Research on biogeographical ancestry(BGA)is becoming of growing interest in forensic genetics and in the biomedical literature(1)Thus,for instance,the need to predict ethnicity of an unknown suspect based on DNA profiles found at the crime scene is of maximum interest in criminalistics[2],and several autosomal SNP panels have been designed and tested for BGA investigations[3,4].Most of these panels aim at discriminating three main continental groups(sub-Saharan Africans,Europeans,and Asians)by way of testing a number of ancestry informative markers(AIMs)that run from a few dozens to a few hundred[5](see more background in Supplementary data online).

关键词： BGA STR Biogeographical informativeness of Y-STR haplotypes

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Phylogeography of SARS-CoV-2 pandemic in Spain:a story of multiple introductions,micro-geographic stratification,founder effects,and super-spreaders

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Zoological Research 2020年第6期41卷 605-620页

作者： Alberto Gomez-Carballa Xabier Bello Jacobo Pardo-Seco Maria Luisa Perez del Molino Federico Martinon-Torres Antonio Salas Unidade de Xendtica Instituto de Ciencias Forenses(I NCI FOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigaci6n Sanitaria(IDIS)Hospital Clinico Universitario de Santiago(SERGAS)Galicia 15706Spain Genetics Vaccines and Pediatric Infectious Diseases Research Group(GENVIP)Instituto de Investigacion Sanitaria de Santiago(IDIS)and Universidade de Santiago de Compostela(USC)Galicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Servicio de Microbiologia y Parasitologia Complejo Hospitalario Universitario de Santiago de CompostelaSantiago de CompostelaGalicia15706 Spain

Spain has been one of the main global pandemic epicenters for coronavirus disease 2019(COVID-19).Here,we analyzed>41000 genomes(including>26000 high-quality(HQ)genomes)downloaded from the GISAID repository,including 1245(922 HQ)sampled in Spain.The aim of this study was to investigate genome variation of novel severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)and reconstruct phylogeographic and transmission patterns in Spain.Phylogeographic analysis suggested at least 34 independent introductions of SARS-CoV-2 to Spain at the beginning of the outbreak.Six lineages spread very successfully in the country,probably favored by super-spreaders,namely,A2 a4(7.8%),A2 a5(38.4%),A2 a10(2.8%),B3 a(30.1%),and B9(8.7%),which accounted for 87.9% of all genomes in the Spanish database.One distinct feature of the Spanish SARS-Cov-2 genomes was the higher frequency of B lineages(39.3%,mainly B3 a+B9)than found in any other European country.While B3 a,B9,(and an important sub-lineage of A2 a5,namely,A2 a5 c)most likely originated in Spain,the other three haplogroups were imported from other European locations.The B3 a strain may have originated in the Basque Country from a B3 ancestor of uncertain geographic origin,whereas B9 likely emerged in Madrid.The time of the most recent common ancestor(TMRCA)of SARS-CoV-2 suggested that the first coronavirus entered the country around 11 February 2020,as estimated from the TMRCA of B3 a,the first lineage detected in the country.Moreover,earlier claims that the D614 G mutation is associated to higher transmissibility is not consistent with the very high prevalence of COVID-19 in Spain when compared to other countries with lower disease incidence but much higher frequency of this mutation(56.4% in Spain vs.82.4% in rest of Europe).Instead,the data support a major role of genetic drift in modeling the micro-geographic stratification of virus strains across the country as well as the role of SARS-CoV-2 super-spreaders.

关键词： Covid-19 SARS-CoV-2 Genomics Phylogeny Phylogeography

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Y-chromosome Peruvian origin of the 500-year-old Inca child mummy sacrificed in Cerro Aconcagua (Argentina)

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Science Bulletin 2018年第22期63卷 1457-1459页

作者： Antonio Salas Laura Catelli Jacobo Pardo-Seco Alberto Gomez-Carballa Federico Martinon-Torres Joaquin Roberto-Barcena Carlos Vullo Unidade de Xenetica Instituto de Ciencias ForensesFacultade de MedicinaUniversidade de Santiago de Compostela (USC)and GenPoB Research GroupInstituto de Investigaciones Sanitarias (IDIS)Hospital Clinico Universitario de Santiago (SERGAS)GaliciaSpain Equipo Argentino de Antropologia Forense Independencia 644-3AEdif.EME1CordobaArgentina Translational Pediatrics and Infectious Diseases Hospital Clinico Universitario de SantiagoSantiago de CompostelaSpain GENVIP Research Group (***) Instituto de Investigacion Sanitaria de SantiagoGaliciaSpain Instituto Etnologico de la Universidad Nacional de Cuyo (UNC) MendozaArgentina

A frozen mummy was found in Cerro Aconcagua (Argentina)in 1985(Fig.1a-c).Archaeologists identified this mummy as a seven-year-old Inca sacrifice victim living at the time of the Inca Civilization about 500years ago [1].The child was sacrificed following an Incan ritual known as capacocha.The complete mitochondrial DNA (mtDNA) genome of this mummy was recently analyzed in Gomez-Carballa et al.[2].This mitogenome belongs to a new sub-branch of the Native American phylogeny named C1bi dated to approximately 14 thousand years ago (loja).Information retrieved from a large database of mtDNA profiles indicated the existence of a few closely related haplotypes in Peru (including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire)and the Aymaras from Bolivia.Overall these data suggested a Peruvian Inca origin for this C1bi haplotype,in good agreement with archaeological reports [1].

关键词：木乃伊儿童

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Ecosystem Services of Grazed Grasslands in the Flooding Pampa

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Phyton-International Journal of Experimental Botany 2024年第6期93卷 1179-1202页

作者： Elizabeth J.jacobo Adriana M.Rodríguez Facultad de Agronomía Área de AgroecologíaUniversidad de Buenos AiresBuenos Aires1417Argentina Facultad de Agronomía Departamento de Producción AnimalUniversidad de Buenos AiresBuenos Aires1417Argentina

The Flooding Pampa grasslands are the last remnant of the Rio de la Plata grasslands in Argentina.Anthropo-genic interventions have led to severe degradation and,as a result,the ecosystem services provided by the grass-lands are declining,in terms of provisioning,regulating,and supporting services.We synthesized the existing literature on the ecosystem goods and services provided by these grasslands under grazing in different conditions and conservation status.We found that plant and animal diversity and primary production are the most studied ecosystem services,while climate regulation,water supply,nutrient cycling,meat production and erosion control,in that order,are less studied.Cultural services are under-researched.Continuous grazing and glyphosate spraying are the main drivers of grassland degradation.Controlled grazing and conservative stocking rates have been shown to reverse degradation and demonstrate that livestock production is compatible with ecosystem conserva-tion by maintaining regulating and provisioning services.As these management strategies are poorly integrated,improving their implementation will require important changes in farmers’decisions and the development of policies that create the economic conditions for this to happen.Research is needed to understand the conditions that prevent the knowledge generated from being transferred to producers and translated into practices that would improve the provision of ecosystem services.

关键词： Salado basin sustainability biodiversity rangelands meat production adaptative multi paddock grazing process technologies agroecology

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Digestive and breast cancer patients managed during the first wave of COVID-19 pandemic:Short and middle term outcomes

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World Journal of Methodology 2024年第2期14卷 107-126页

作者： jacobo Trébol Ana Carabias-Orgaz María Carmen Esteban-Velasco Asunción García-Plaza Juan Ignacio González-Munoz Ana Belén Sánchez-Casado Felipe Carlos Parreno-Manchado Marta Eguía-Larrea José Antonio Alcázar-Montero Cirugía General y del Aparato Digestivo Complejo Asistencial Universitario de SalamancaSalamanca 37007SalamancaSpain Cirugía Universidad de SalamancaSalamanca 37007SalamancaSpain Oftalmología Complejo Asistencial Universitario de SalamancaSalamanca 37007SalamancaSpain

BACKGROUND The first wave of coronavirus disease 2019(COVID-19)pandemic in Spain lasted from middle March to the end of June 2020.Spanish population was subjected to lockdown periods and scheduled surgeries were discontinued or reduced during variable periods.In our centre,we managed patients previously and newly diagnosed with cancer.We established a strategy based on limiting perioperative social contacts,preoperative screening(symptoms and reverse transcriptionpolymerase chain reaction)and creating separated in-hospital COVID-19-free pathways for non-infected patients.We also adopted some practice modifications(surgery in different facilities,changes in staff and guidelines,using continuously changing personal protective equipment…),that supposed new inconveniences.AIM To analyse cancer patients with a decision for surgery managed during the first wave,focalizing on outcomes and pandemic-related modifications.METHODS We prospectively included adults with a confirmed diagnosis of colorectal,oesophago-gastric,liver-pancreatic or breast cancer with a decision for surgery,regardless of whether they ultimately underwent surgery.We analysed short-term outcomes[30-d postoperative morbimortality and severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection]and outcomes after 3 years(adjuvant therapies,oncological events,death,SARS-CoV-2 infection and vaccination).We also investigated modifications to usual practice.RESULTS From 96 included patients,seven didn’t receive treatment that period and four never(3 due to COVID-19).Operated patients:28 colon and 21 rectal cancers;laparoscopy 53.6%/90.0%,mortality 3.57%/0%,major complications 7.04%/25.00%,anastomotic leaks 0%/5.00%,3-years disease-free survival(DFS)82.14%/52.4%and overall survival(OS)78.57%/76.2%.Six liver metastases and six pancreatic cancers:no mortality,one major complication,three grade A/B liver failures,one bile leak;3-year DFS 0%/33.3%and OS 50.0%/33.3%(liver metastases/pancreatic carcinoma).5 gastric and 2 oesophageal tumours:mortality 0%/50

关键词： COVID-19 SARS-CoV-2 Colon cancer Rectal cancer Breast cancer Liver cancer Pancreatic cancer Gastric cancer Oesophageal cancer Surgery

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门诊成人社区获得性肺炎的危险因素:生活方式和共病条件(NEUMO-ES-RISK项目)

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英国医学杂志中文版 2019年第8期22卷 483-483页

作者： Irene Rivero-Calle Miriam Cebey-López Jacobo Pardo-Seco José Yuste Esther Redondo Diego A Vargas Enrique Mascarós Jose Luis Díaz-Maroto Manuel Linares-Rufo Isabel Jimeno Angel Gil Jesus Molina Daniel Ocana Federico Martinón-Torres 崔晓霞(译) 不详北京协和医院呼吸科

背景社区获得性肺炎(CAP)风险在初级保健中的信息是有限的。我们评估了不同生活方式和共病条件作为初级保健成人CAP的危险因素。方法一项回顾性观察对照研究。使用国家初级保健数据监测系统检索了2009至2013年在西班牙初级保健部门诊断... 详细信息

背景社区获得性肺炎(CAP)风险在初级保健中的信息是有限的。我们评估了不同生活方式和共病条件作为初级保健成人CAP的危险因素。方法一项回顾性观察对照研究。使用国家初级保健数据监测系统检索了2009至2013年在西班牙初级保健部门诊断的成人CAP病例。匹配年龄和匹配性别的对照组采用发病率密度抽样(比例2∶1)。以百分比和比值比来表示关联分析。为了避免偏倚效应,建立二项回归模型。结果51 139例患者和102 372例对照组做比较。平均年龄为61.4(19.9)岁。危险因素与CAP的显著相关性如下:艾滋病[比值比(95%可信区间)5.21(4.35~6.27)]、慢性阻塞性肺病(COPD)[2.97(2.84~3.12)]、哮喘[2.16(2.07~2.26)]、吸烟[1.96(1.91~2.02)]和口腔卫生问题[1.45(1.41~1.49)]。患者组中有危险因素存在的平均患病率为82.2%,对照组为69.2%。CAP患病率的增加与危险因素和年龄的累积有关:1个危险因素时,在18~60岁老人中的风险相关性是1.42,在>60岁人中是1.57;2个危险因素时,是1.88和2.35;≥3个危险因素时,是3.11和4.34。结论成人CAP初级保健中的危险因素普遍较高。主要与危险因素相关的是艾滋病、COPD、哮喘、吸烟、口腔卫生问题。我们的风险叠加结果可以帮助临床医生确定肺炎风险较高的患者。

关键词：社区获得性肺炎危险因素生活方式成人共病慢性阻塞性肺病初级保健门诊

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Factors that affect heart rate variability following acute resistance exercise:A systematic review and meta-analysis

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Journal of Sport and Health Science 2022年第3期11卷 376-392页

作者： Sajith U.Marasingha-Arachchige jacoboÁ.Rubio-Arias Pedro E.Alcaraz Linda H.Chung UCAM Research Center for High Performance Sport Catholic University of MurciaMurcia 30107Spain LFE Research Group Department of Health and Human PerformanceFaculty of Physical Activity and Sport Science-INEFUniversidad Politécnica de MadridMadrid 28040Spain Faculty of Sport Catholic University of MurciaMurcia 30107Spain

Background:There is controversial evidence regarding the effect of acute resistance exercise(ARE) on heart rate variability(HRV) parameters,which indicates the activities of the cardiac autonomic nervous system.The aim of this study was to perform a systematic review and meta-analysis of the literature on the effect of ARE on HRV parameters and identify its possible moderating factors.Methods:The PubMed-Medline,Web of Science,SPORTDiscus,and Cochrane Library databases were searched.The Preferred Reporting Items for Systematic Reviews and Meta-Analyses(PRISMA) declaration was followed,and the methodological quality of the studies was evaluated.The level of significance was set at p≤0.05.Twenty-six studies met the inclusion criteria.Main effect analyses between pre-and post-test interventions demonstrated an increase in normalized units low frequency(p <0.001;standardized mean difference(SMD)=0.78;95% confidence interval(95%CI):0.46-1.11) and low frequency/high frequency ratio(p <0.001;SMD=0.82;95%CI:0.64-0.99) and a decrease in standard deviation of the normal-to-normal(NN)interval(p <0.001;SMD=-0.58;95%CI:-0.85 to-0.30),root mean square of the successive differences(p <0.001;SMD=-1.01;95%CI:-1.29 to-0.74),and normalized units high frequency(p <0.001;SMD:-1.08;95%CI:-1.43 to-0.73) following ARE in healthy individuals range:15 ± 1 to 48 ± 2 years;mean ± SD).Results:There were differences between the subgroups in the number of sets used in an exercise(p=0.05) for root mean square of the successive differences,as well as for exercise intensity(p=0.01) and rest between sets(p=0.05) for normalized units high frequency.Interestingly,there were differences between the subgroups in training volume for root mean square of the successive differences(p=0.01),normalized units high frequency(p=0.003) and normalized units low frequency(p=0.02).Conclusion:Overall,there was a withdrawal of cardiac parasympathetic and activation of cardiac sympathetic modulations following ARE,and these changes were greater with higher training vo

关键词： Cardiac Parasympathetic Sympathetic

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