Etude de l'anatomie microchirurgicale de l'orbite et applications en Neurochirurgie

L'orbite est une région charnière située à la jonction du champ d'action de spécialités différentes. Pour le neurochirurgien, c'est une région mal connue même si son anatomie est ancienne et bien établie. Nous allons étudier, grâce à la mise à disposition par le laboratoire d'Anatomie de la Faculté de Médecine de Nancy de 5 têtes ayant bénéficiées d'une injection vasculaire, son anatomie générale, son anatomie microchirurgicale et les informations que cela procurent au neurochirurgien. Nous étudierons plus particulièrement les régions clefs que sont le canal optique et la fissure orbitaire supérieure ainsi que les différentes stratégies chirurgicales possibles. Après avoir rappelé les principales étiologies de lésions orbitaires impliquant le neurochirurgien, nous allons étudier aussi les résultats de la chirurgie de l'orbite pratiquée dans le département de Neurochirurgie du CHU de Nancy de 2000 à 2006 ainsi que les techniques chirurgicales utilisées. L'ensemble des techniques chirurgicales pratiquées sera ensuite passé en revue avec ses avantages et inconvénients en fonction du type et de la topographie de la lésion. Cette étude montre l'extrême complexité de cette région ainsi que l'attitude du neurochirurgien doit être adapté à chaque cas, en fonction de la lésion, de sa topographie et que cette attitude s'intègre dans un cadre d'une concertation pluridisciplinaire avec d'autres spécialités bénéficiant d'accès chirurgicaux différents mais tout aussi intéressants.NANCY1-SCD Medecine (545472101) / SudocSudocFranceF

Genome-enabled predictions for fruit weight and quality from repeated records in European peach progenies

Background: Highly polygenic traits such as fruit weight, sugar content and acidity strongly influence the agroeconomic value of peach varieties. Genomic Selection (GS) can accelerate peach yield and quality gain if predictions show higher levels of accuracy compared to phenotypic selection. The available IPSC 9K SNP array V1 allows standardized and highly reliable genotyping, preparing the ground for GS in peach.- Results: A repeatability model (multiple records per individual plant) for genome-enabled predictions in eleven European peach populations is presented. The analysis included 1147 individuals derived from both commercial and non-commercial peach or peach-related accessions. Considered traits were average fruit weight (FW), sugar content (SC) and titratable acidity (TA). Plants were genotyped with the 9K IPSC array, grown in three countries (France, Italy, Spain) and phenotyped for 3-5 years. An analysis of imputation accuracy of missing genotypic data was conducted using the software Beagle, showing that two of the eleven populations were highly sensitive to increasing levels of missing data. The regression model produced, for each trait and each population, estimates of heritability (FW:0.35, SC:0.48, TA:0.53, on average) and repeatability (FW:0.56, SC:0.63, TA:0.62, on average). Predictive ability was estimated in a five-fold cross validation scheme within population as the correlation of true and predicted phenotypes. Results differed by populations and traits, but predictive abilities were in general high (FW:0.60, SC:0.72, TA:0.65, on average).- Conclusions: This study assessed the feasibility of Genomic Selection in peach for highly polygenic traits linked to yield and fruit quality. The accuracy of imputing missing genotypes was as high as 96%, and the genomic predictive ability was on average 0.65, but could be as high as 0.84 for fruit weight or 0.83 for titratable acidity. The estimated repeatability may prove very useful in the management of the typical long cycles involved in peach productions. All together, these results are very promising for the application of genomic selection to peach breeding programmes

Exploring and exploiting phenotypic and genetic diversity in peach: identification of major genes and QTLs by GWAS

Genetic variability is a key requirement for breeding. Although new peach cultivars are released yearly to the market, the genetic pool of cultivated peaches is very limited. To evaluate the variability available in commercial but also in old local peach accessions we selected a panel of 1,580 accessions maintained and evaluated in four European and one Chinese germplasm collections. Phenotypic data collected over years following common protocols have been integrated in a database, generating a useful tool for breeders and researchers. These accessions were genotyped with the peach 9K SNP array v1. T. Genotypic data distributed the accessions in three main subpopulations (Occidental obtained in breeding programs, Occidental old local varieties and Chinese cultivars). Linkage disequilibrium (LD) was in agreement with previous studies reporting long extension. Phenotypic and genotypic data have been combined in a GWAS study allowing the design of markers for marker assisted selection (MAS). Preliminary analyses on quantitative traits are promising, while further analysis will be required to integrate all data in a single genome-wide association analysis

An integrated approach for increasing breeding efficiency in apple and peach in Europe

Despite the availability of whole genome sequences of apple and peach, there has been a considerable gap between genomics and breeding. To bridge the gap, the European Union funded the FruitBreedomics project (March 2011 to August 2015) involving 28 research institutes and private companies. Three complementary approaches were pursued: (i) tool and software development, (ii) deciphering genetic control of main horticultural traits taking into account allelic diversity and (iii) developing plant materials, tools and methodologies for breeders. Decisive breakthroughs were made including the making available of ready-to-go DNA diagnostic tests for Marker Assisted Breeding, development of new, dense SNP arrays in apple and peach, new phenotypic methods for some complex traits, software for gene/QTL discovery on breeding germplasm via Pedigree Based Analysis (PBA). This resulted in the discovery of highly predictive molecular markers for traits of horticultural interest via PBA and via Genome Wide Association Studies (GWAS) on several European genebank collections. FruitBreedomics also developed pre-breeding plant materials in which multiple sources of resistance were pyramided and software that can support breeders in their selection activities. Through FruitBreedomics, significant progresses were made in the field of apple and peach breeding, genetics, genomics and bioinformatics of which advantage will be made by breeders, germplasm curators and scientists. A major part of the data collected during the project has been stored in the FruitBreedomics database and has been made available to the public. This review covers the scientific discoveries made in this major endeavour, and perspective in the apple and peach breeding and genomics in Europe and beyond. A Europe-led effort to bridge the gap between genomics and breeding offers a new resource to support apple and peach production. A team led by François Laurens from the Research Institute in Horticulture and Seeds (IRHS) in Angers, France, review the tools, methodologies and scientific discoveries made through FruitBreedomics, a project that ran between 2011 and 2015 and involved 28 different research and private companies from around the world. These new molecular and bioinformatics tools include DNA arrays for mapping genetic diversity, computer software for analyzing genetic information and novel methods for understanding commercially important traits such as fruit quality and resistance to stresses. The project's materials should help apple and peach producers better plan their breeding programs so as to meet grower and consumer demand for high-quality fruit with desired characteristics

Integrated QTL detection for key breeding traits in multiple peach progenies

BACKGROUND: peach (Prunus persica (L.) Batsch) is a major temperate fruit crop with an intense breeding activity. Breeding is facilitated by knowledge of the inheritance of the key traits that are often of a quantitative nature. QTLs have traditionally been studied using the phenotype of a single progeny (usually a full-sib progeny) and the correlation with a set of markers covering its genome. This approach has allowed the identification of various genes and QTLs but is limited by the small numbers of individuals used and by the narrow transect of the variability analyzed. In this article we propose the use of a multi-progeny mapping strategy that used pedigree information and Bayesian approaches that supports a more precise and complete survey of the available genetic variability. - RESULTS: seven key agronomic characters (data from 1 to 3 years) were analyzed in 18 progenies from crosses between occidental commercial genotypes and various exotic lines including accessions of other Prunus species. A total of 1467 plants from these progenies were genotyped with a 9 k SNP array. Forty-seven QTLs were identified, 22 coinciding with major genes and QTLs that have been consistently found in the same populations when studied individually and 25 were new. A substantial part of the QTLs observed (47%) would not have been detected in crosses between only commercial materials, showing the high value of exotic lines as a source of novel alleles for the commercial gene pool. Our strategy also provided estimations on the narrow sense heritability of each character, and the estimation of the QTL genotypes of each parent for the different QTLs and their breeding value. - CONCLUSIONS: the integrated strategy used provides a broader and more accurate picture of the variability available for peach breeding with the identification of many new QTLs, information on the sources of the alleles of interest and the breeding values of the potential donors of such valuable alleles. These results are first-hand information for breeders and a step forward towards the implementation of DNA-informed strategies to facilitate selection of new cultivars with improved productivity and quality

Whole-genome analysis of diversity and SNP-Major gene association in peach germplasm

Peach was domesticated in China more than four millennia ago and from there it spread world-wide. Since the middle of the last century, peach breeding programs have been very dynamic generating hundreds of new commercial varieties, however, in most cases such varieties derive from a limited collection of parental lines (founders). This is one reason for the observed low levels of variability of the commercial gene pool, implying that knowledge of the extent and distribution of genetic variability in peach is critical to allow the choice of adequate parents to confer enhanced productivity, adaptation and quality to improved varieties. With this aim we genotyped 1,580 peach accessions (including a few closely related Prunus species) maintained and phenotyped in five germplasm collections (four European and one Chinese) with the International Peach SNP Consortium 9K SNP peach array. The study of population structure revealed the subdivision of the panel in three main populations, one mainly made up of Occidental varieties from breeding programs (POP1OCB), one of Occidental landraces (POP2OCT) and the third of Oriental accessions (POP3OR). Analysis of linkage disequilibrium (LD) identified differential patterns of genome-wide LD blocks in each of the populations. Phenotypic data for seven monogenic traits were integrated in a genome-wide association study (GWAS). The significantly associated SNPs were always in the regions predicted by linkage analysis, forming haplotypes of markers.These diagnostic haplotypes could be used for marker-assisted selection (MAS) in modern breeding programs

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial

International audienceOBJECTIVE The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The authors report the results of the surgical registry. METHODS TOBAS patients are managed according to an algorithm that combines clinical judgment and randomized allocation. For patients considered for curative treatment, clinicians selected from surgery, endovascular therapy, or radiation therapy as the primary curative method, and whether observation was a reasonable alternative. When surgery was selected and observation was deemed unreasonable, the patient was not included in the randomized controlled trial but placed in the surgical registry. The primary outcome of the trial was mRS score > 2 at 10 years (at last follow-up for the current report). Secondary outcomes include angiographic results, perioperative serious adverse events, and permanent treatment-related complications leading to mRS score > 2. RESULTS From June 2014 to May 2021, 1010 patients were recruited at 30 TOBAS centers. Surgery was selected for 229/512 patients (44%) considered for curative treatment; 77 (34%) were included in the surgery versus observation randomized trial and 152 (66%) were placed in the surgical registry. Surgical registry patients had 124/152 (82%) ruptured and 28/152 (18%) unruptured arteriovenous malformations (AVMs), with the majority categorized as low-grade Spetzler-Martin grade I–II AVM (118/152 [78%]). Thirteen patients were excluded, leaving 139 patients for analysis. Embolization was performed prior to surgery in 78/139 (56%) patients. Surgical angiographic cure was obtained in 123/139 all-grade (89%, 95% CI 82%–93%) and 105/110 low-grade (95%, 95% CI 90%–98%) AVM patients. At the mean follow-up of 18.1 months, 16 patients (12%, 95% CI 7%–18%) had reached the primary safety outcome of mRS score > 2, including 11/16 who had a baseline mRS score ≥ 3 due to previous AVM rupture. Serious adverse events occurred in 29 patients (21%, 95% CI 15%–28%). Permanent treatment-related complications leading to mRS score > 2 occurred in 6/139 patients (4%, 95% CI 2%–9%), 5 (83%) of whom had complications due to preoperative embolization. CONCLUSIONS The surgical treatment of brain AVMs in the TOBAS registry was curative in 88% of patients. The participation of more patients, surgeons, and centers in randomized trials is needed to definitively establish the role of surgery in the treatment of unruptured brain AVMs. Clinical trial registration no.: NCT02098252 ( ClinicalTrials.gov