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Journal of Nanjing Medical University 2003年第4期17卷 173-182页

作者：袁宝强 peter aj leegwater Andrea AM Konst Jan C Pronk Marjo S van der Knaap 徐州医学院附属医院儿科自由大学医疗中心临床化学科自由大学医疗中心人类遗传学科自由大学医疗中心儿童神经科

Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.

关键词： vacuolating megalencephalic leukoencephalopathy with subcortical cysts autosomal recessive mode of inheritance chromosome 22 linkage analysis position cloning microsatellite marker single-nucleotide polymorphisms

Fixation methods for electron microscopy of human and other liver

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World Journal of Gastroenterology 2010年第23期16卷 2851-2866页

作者： Eddie Wisse Filip Braet Hans Duimel Celien Vreuls Ger Koek Steven WM Olde Damink Maartje aj van den Broek Bart De Geest Cees HC Dejong Chise Tateno peter Frederik Electron Microscope Unit University of Maastricht Australian Key Center for Microscopy and Microanalysis Sydney University Department of Internal Medicine University of Maastricht Department of Surgery University of Maastricht Center for Molecular and Vascular Biology University of Leuven PhoenixBio Co.

For an electron microscopic study of the liver,expertise and complicated,time-consuming processing of hepatic tissues and cells is *** interpretation of electron microscopy(EM) images requires knowledge of the liver fine structure and experience with the numerous artifacts in fixation,embedding,sectioning,contrast staining and microscopic ***,the aim of this paper is to present a detailed summary of different methods for the preparation of hepatic cells and tissue,for the purpose of preserving long-standing expertise and to encourage new investigators and clinicians to include EM studies of liver cells and tissue in their projects.

关键词： Liver Tissue fixation Perfusion Electron microscopy Biopsy

Long-term follow-up of quality of life in high-risk patients undergoing transcatheter aortic valve implantation for symptomatic aortic valve stenosis

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Journal of Geriatric Cardiology 2018年第4期15卷 261-267页

作者： Marjo JAG De Ronde-Tillmans Tom aj de Jager Jeannette A Goudzwaard Nahid El Faquir Nicolas M van Mieghem Felix Zijlstra Elisabeth MWJ. Utens Francesco US Mattace-Raso MaRie J Lenzen peter PT de Jaegere Erasmus Medical Center Department of Cardiology Thorax Center Rotterdam the Netherlands Erasmus Medical Center Section of Geriatrics Department of Internal Medicine Rotterdam the Netherlands Erasmus Medical Center Department of Child and Adolescent Psychiatry/Psychology Sophia Children 's Hospital Rotterdam the Netherlands The Netherlands Research Institute of Child Development and Education University of Amsterdam the Netherlands

Background Transcatheter aortic valve implantation （TAVI） has become the standard treatment for patients with severe symptomatic aortic stenosis （AS） considered at very high risk for surgical aortic valve replacement. The purpose of this sub-study was to evaluate long-term （〉 4 years） health-related quality of life （QoL） in octogenarians who underwent TAVI. Methods A single center observational registry in twenty patients who underwent frame analysis assessment ≥ 4 years after TAVI. Health-related QoL was evaluated, using the Short Form-36 （SF-36）, the EuroQoL-5D （EQ-5D） and the visual analogue score （EQ-VAS） questionnaires. Results The mean SF-36 subscale scores at follow-up were physical functioning 40.8 ± 26.3, role physical functioning 67.7 ± 34.9, vitality 54.6 ± 21.6, general health 52.1 ± 20.4, social functioning 63.8 ± 37.7, role emotional functioning 70.2 ± 36.0, mental health 73.2 ± 23.3 and bodily pain 80.9 ± 22.9. The mean EQ-VAS score 〉 4 years after TAVI was 64.7 ± 15.1. With respect to functional class, 80% of the patients were in NYHA class I/II at follow-up compared to 15% prior to TAVI. Conclusions This sub-study reports a significant improvement in functional class （NYHA） in a selected group of very elderly patients 〉 4 years after TAVI. Furthermore, all patients showed a satisfactory QoL despite their age and multiple comorbidities. In addition, our study reveals a lower QoL when compared with the general age matched Dutch population.

关键词： Octogenarians Quality of life Transcatheter aortic valve implantation

New technologies to investigate the brain-gut axis

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World Journal of Gastroenterology 2009年第2期15卷 182-191页

作者： Abhishek Sharma Dina Lelic Christina Brock peter Paine Qasim Aziz Department of Gastrointestinal Science University of Manchester Manchester M13 9PL United Kingdom Neurogastro-enterology Group Wingate Institute of Neurogastroenterology Barts and the London School of Medicine and Dentistry London E1 2AJ United Kingdom Mech-Sense Department of Gastroenterology Aalborg Hospital Boulevarden 13 DK-9000 Aalborg Denmark

Functional gastrointestinal disorders are commonly encountered in clinical practice, and pain is their commonest presenting symptom. In addition, patients with these disorders often demonstrate a heightened sensitivity to experimental visceral stimulation, termed visceral pain hypersensitivity that is likely to be important in their pathophysiology. Knowledge of how the brain processes sensory information from visceral structures is still in its infancy. However, our understanding has been propelled by technological imaging advances such as functional Magnetic Resonance Imaging, Positron Emission Tomography, Magnetoencephalography, and Electroencephalography （EEG）. Numerous human studies have non-invasively demonstrated the complexity involved in functional pain processing, and highlighted a number of subcortical and cortical regions involved. This review will focus on the neurophysiological pathways （primary afferents, spinal and supraspinal transmission）, brainimaging techniques and the influence of endogenous and psychological processes in healthy controls and patients suffering from functional gastrointestinal disorders. Special attention will be paid to the newer EEG source analysis techniques. Understanding the phenotypic differences that determine an individual＇s response to injurious stimuli could be the key to understanding why some patients develop pain and hyperalgesia in response to inflammation/injury while others do not. For future studies, an integrated approach is required incorporating an individual＇s psychological, autonomic, neuroendocrine, neurophysiological, and genetic profile to define phenotypic traits that may be at greater risk of developing sensitised states in response to gut inflammation or injury.

关键词： Brain-gut axis Central processing Neuraxis Neurophysiology

High density genetic map and quantitative trait loci(QTLs)associated with petal number and flower diameter identified in tetraploid rose

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Journal of Integrative Agriculture 2021年第5期20卷 1287-1301页

作者： YU Chao WAN Hui-hua peter M.BOURKE CHENG Bi-xuan LUO Le PAN Hui-tang ZHANG Qi-xiang Beijing Key Laboratory of Ornamental Plants Germplasm Innovation&Molecular Breeding/National Engineering Research Center for Floriculture/Beijing Laboratory of Urban and Rural Ecological Environment/Engineering Research Center of Landscape Environment of Ministry of Education/Key Laboratory of Genetics and Breeding in Forest Trees and Ornamental Plants of Ministry of Education School of Landscape ArchitectureBeijing Forestry UniversityBeijing 100083P.R.China Plant Breeding Wageningen University&ResearchWageningen 6700 AJThe Netherlands Beijing Advanced Innovation Center for Tree Breeding by Molecular Design Beijing Forestry UniversityBeijing 100083P.R.China

Rose is one of the most important ornamental and economic plants in the *** rose cultivars are primarily tetraploid,and during meiosis,they may exhibit double reduction or preferential chromosome ***,the construction of a high density genetic map of tetraploid rose is both challenging and *** this study,a tetraploid rose population was used to conduct a genetic analysis using genome sequencing.A total of 17382 single nucleotide polymorphism(SNP)markers were selected from 2308042 detected *** with 440 previously developed simple sequence repeats(SSR)and amplified fragment length polymorphism(AFLP)markers,a marker dosage of 6885 high quality markers was successfully assigned by GATK software in the tetraploid *** markers were used in the construction of a high density genetic map,containing the expected seven linkage groups with 6842 markers,a total map length of 1158.9 c M,and an average inter-marker distance of 0.18 c *** trait locus(QTL)analysis was subsequently performed to characterize the genetic architecture of petal number and flower *** major QTL(qpnum-3-1)was detected for petal number in three consecutive years,which explained 20.18–22.11%of the variation in petal *** QTLs were detected for flower diameter;the main locus,qfdia-2-2,was identified in two consecutive *** results will benefit the molecular marker-assisted breeding of modern rose *** addition,this study provides a guide for the genetic and QTL analysis of autotetraploid plants using sequencing-based genotyping methods.

关键词： rose tetraploid genetic linkage map QTLs

Experimental evidence for ovarian hypofunction in sparrow hybrids

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Chinese Birds 2016年第1期7卷 79-83页

作者： Fabrice Eroukhmanoff Melissah Rowe Emily R.A.Cramer Fredrik Haas Jo S.Hermansen Anna Runemark Arild Johnsen Glenn-peter Saetre Department of Biosciences Center for Ecological and Evolutionary SynthesisUniversity of Oslo Natural History Museum University of Oslo Department of Biology Ecology BuildingLund University

Background: Postzygotic isolation in the form of reduced viability and/or fertility of hybrids may help maintain species boundaries in the face of interspecific gene flow. Past hybridization events between house sparrows(Passer domesticus) and Spanish sparrows(P. hispaniolensis) have given rise to a homoploid hybrid species, the Italian sparrow(P. italiae). Although genetic incompatibilities are known to isolate these three species, the biological consequences of these incompatibilities are still unknown in early generation ***: We investigated whether F1 hybrids between house and Spanish sparrows experience reduced viability or fertility. More specifically, we generated hybrids through controlled crosses in aviaries, and compared ovaries of female hybrids with female of pure?species ***: We found that overall, hybrid ovaries were underdeveloped and that half of all female hybrids exhibited symptoms of ovarian hypofunction(ovarian atrophy and complete absence of developed follicles).Conclusions: Fertility in hybrids is a common consequence or post?zygotic barriers between species. We discuss these results in light of previous findings on genetic incompatibilities between the parent species and the potential role of incompatibilities in hybrid speciation, a rare evolutionary process in birds.

关键词： Hybrid fitness Hybridization Ovary Sparrows Speciation

Mental health impact on Black,Asian and Minority Ethnic populations with preterm birth:A systematic review and meta-analysis

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World Journal of Psychiatry 2022年第9期12卷 1233-1254页

作者： Gayathri Delanerolle Yutian Zeng peter Phiri Thuan Phan Nicola Tempest Paula Busuulwa Ashish Shetty Vanessa Raymont Shanaya Rathod Jian-Qing Shi Dharani K Hapangama Nuffield Department of Primary Care Health Science University of OxfordOxford OX37JXUnited Kingdom Research and Innovation Southern Health NHS Foundation TrustSouthampton SO303JBUnited Kingdom Southern University of Science and Technology Shenzhen 518055Guangdong ProvinceChina Psychology Department Faculty of Environmental and Life SciencesUniversity of SouthamptonSouthampton SO171BJUnited Kingdom Department of Women's and Children's Health University of LiverpoolLiverpool L78TXUnited Kingdom Gynaecology Directorate and Hewitt Centre for Reproductive Medicine Liverpool Women's NHS FoundationLiverpool L87SSUnited Kingdom National Hospital for Neurology and Neurosurgery University College London Hospitals NHS Foundation TrustLondon W1T 4AJUnited Kingdom Department of Psychiatry University of OxfordOxford OX37JXUnited Kingdom National Centre for Applied Mathematics Shenzhen Shenzhen 518055Guangdong ProvinceChina Department of Statistics Southern University of Science and TechnologyShenzhen 518055Guangdong ProvinceChina

BACKGROUND Preterm birth(PTB)is one of the main causes of neonatal deaths globally,with approximately 15million infants are born *** from the Black,Asian,and Minority Ethnic(BAME)populations maybe at higher risk of PTB,therefore,the mental health impact on mothers experiencing a PTB is particularly important,within the BAME *** To determine the prevalence of mental health conditions among BAME women with PTB as well as the methods of mental health assessments used to characterise the mental health *** A systematic methodology was developed and published as a protocol in PROSPERO(CRD420-20210863).Multiple databases were used to extract relevant data.I2 and Egger's tests were used to detect the heterogeneity and publication bias.A trim and fill method was used to demonstrate the influence of publication bias and the credibility of *** Thirty-nine studies met the eligibility criteria from a possible *** prevalence rates of depression among PTB-BAME mothers were significantly higher than full-term mothers with a standardized mean difference of 1.5 and a 95%confidence interval(CI)29%-74%.The subgroup analysis indicated depressive symptoms to be time *** within the very PTB category demonstrated a significantly higher prevalence of depression than those categorised as non-very *** prevalence rates of anxiety and stress among PTB-BAME mothers were significantly higher than in full-term mothers(odds ratio of 88%and 60%with a CI of 42%-149%and 24%-106%,respectively).CONCLUSION BAME women with PTB suffer with mental health *** studies did not report on specific mental health outcomes for BAME ***,the impact of PTB is not accurately represented in this population,and thus could negatively influence the quality of maternity services they receive.

关键词： Preterm labor Preterm birth Black Asian and Minority Ethnic Mental health Women's health Wellbeing

Engineering of a Promoter Repressed by a Light-Regulated Transcription Factor in Escherichia coli

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BioDesign Research 2021年第1期2021卷 59-69页

作者： Daniel Camsund Alfonso Jaramillo peter Lindblad Microbial Chemistry Department of Chemistry-ÅngströmUppsala UniversityUppsalaSweden Molecular Systems Biology Department of Cell and Molecular BiologyUppsala UniversityUppsalaSweden Warwick Integrative Synthetic Biology Centre(WISB)and School of Life Sciences University of WarwickCoventryUK Génomique Métabolique GenoscopeInstitut François JacobCEACNRSUniv EvryUniversitéParis-SaclayEvryFrance Institute for Integrative Systems Biology(I2SysBio) CSIC–Universitat de València46980 PaternaSpain

Light-regulated gene expression systems allow controlling gene expression in space and time with high *** to previous synthetic light sensors that incorporate two-component systems which require localization at the plasma membrane,soluble one-component repression systems provide several advantageous ***,they are soluble and able to diffuse across the ***,they are smaller and of lower complexity,enabling less taxing expression and optimization of fewer ***,repression through steric hindrance is a widespread regulation mechanism that does not require specific interaction with host factors,potentially enabling implementation in different ***,we present the design of the synthetic promoter P_(EL)that in combination with the light-regulated dimer EL222 constitutes a onecomponent repression *** by previously engineered synthetic promoters and the Escherichia coli lacZYA promoter,we designed P_(EL)with two EL222 operators positioned to hinder RNA polymerase binding when EL222 is bound.P_(EL)is repressed by EL222 under conditions of white light with a light-regulated repression ratio of ***,alternating conditions of darkness and light in cycles as short as one hour showed that repression is *** design of the P_(EL)EL222 system herein presented could aid the design and implementation of analogous one-component optogenetic repression ***,we compare the P_(EL)-EL222 system with similar systems and suggest general improvements that could optimize and extend the functionality of EL222-based as well as other one-component repression systems.

关键词： pressed system analogous

High-density SNP-based genetic maps for the parents of an outcrossed and a selfed tetraploid garden rose cross, inferred from admixed progeny using the 68k rose SNP array

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Horticulture Research 2016年第1期3卷 68-75页

作者： Mirjana Vukosavljev Paul Arens Roeland E Voorrips Wendy P C van't Westende G D Esselink peter M Bourke peter Cox W Eric van de Weg Richard G F Visser Chris Maliepaard Marinus J M Smulders Wageningen UR Plant Breeding Wageningen University&ResearchWageningenNL-6700 AJThe Netherlands Roath BV EindhovenThe Netherlands Pheno Geno Roses D.O.O.Bulevar oslobođenja 65a 21000 Novi SadSerbia

Dense genetic maps create a base for QTL analysis of important traits and future implementation of marker-assisted *** tetraploid rose,the existing linkage maps include<300 markers to cover 28 linkage groups(4 homologous sets of 7 chromosomes).Here we used the 68k WagRhSNP Axiom single-nucleotide polymorphism(SNP)array for rose,in combination with SNP dosage calling at the tetraploid level,to genotype offspring from the garden rose cultivar‘Red New Dawn’.The offspring proved to be not from a single bi-parental *** rose breeding,crosses with unintended parents occur *** developed a strategy to separate progeny into putative populations,even while one of the parents was unknown,using principle component analysis on pairwise genetic distances based on sets of selected SNP markers that were homozygous,and therefore uninformative for one *** of the inferred populations was consistent with self-fertilization of‘Red New Dawn’.Subsequently,linkage maps were generated for a bi-parental and a self-pollinated population with‘Red New Dawn’as the common maternal *** densest map,for the selfed parent,had 1929 SNP markers on 25 linkage groups,covering 1765.5 cM at an average marker distance of 0.9 *** with the strawberry(Fragaria vesca)genome was *** ICM1 corresponded to *** pseudochromosome 7(Fv7),ICM4 to Fv4,ICM5 to Fv3,ICM6 to Fv2 and ICM7 to *** ICM2 corresponded to parts of *** pseudochromosomes 1 and 6,whereas ICM3 is syntenic to the remainder of Fv6.

关键词： breeding linkage dosage

In the name of the rose:a roadmap for rose research in the genome era

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Horticulture Research 2019年第1期6卷 948-964页

作者： Marinus J.M.Smulders Paul Arens peter M.Bourke Thomas Debener Marcus Linde Jan De Riek Leen Leus Tom Ruttink Sylvie Baudino Laurence Hibrant Saint-Oyant Jeremy Clotault Fabrice Foucher Plant Breeding Wageningen University and ResearchP.O.Box 3866700 AJ WageningenThe Netherlands Faculty of Natural Sciences Institute for Plant GeneticsMolecular Plant BreedingLeibniz University of HannoverHerrenhäuser Strasse 230419 HannoverGermany ILVO Plant Sciences UnitFlanders Research Institute for AgricultureFisheries and FoodCaritasstraat 399090 MelleBelgium BVpam CNRS FRE 3727UJM-Saint-ÉtienneUniv.LyonSaint-EtienneFrance IRHS Agrocampus-OuestINRAUniversitéd’AngersSFR 4207 QuaSaV42 rue Georges Morel BP 6005749071 BeaucouzéFrance

The recent completion of the rose genome sequence is not the end of a process,but rather a starting point that opens up a whole set of new and exciting *** to a high-quality genome sequence other genomic tools have also become available for rose,including transcriptomics data,a high-density single-nucleotide polymorphism array and software to perform linkage and quantitative trait locus mapping in *** cultivars are highly heterogeneous and *** vast diversity in cultivated roses can be explained through the genetic potential of the genus,introgressions from wild species into commercial tetraploid germplasm and the inimitable efforts of historical *** can now investigate how this diversity can best be exploited and refined in future breeding work,given the rich molecular toolbox now available to the rose breeding *** paper presents possible lines of research now that rose has entered the genomics era,and attempts to partially answer the question that arises after the completion of any draft genome sequence:‘Now that we have“the”genome,what’s next?’.Having access to a genome sequence will allow both(fundamental)scientific and(applied)breeding-orientated questions to be *** outline possible approaches for a number of these questions.

关键词： breeding cultivar linkage