Targeted deep sequencing of CD34+ cells from peripheral blood can reproduce bone marrow molecular profile in myelodysplastic syndromes

Altres ajuts: José Carreras Leukämie-Stiftung, Award/Grant number: project AR 14/34

The global naturalized Alien Flora (GloNAF) database

This dataset provides the Global Naturalized Alien Flora (GloNAF) database, ver-sion 1.2. Glo NAF represents a data compendium on th e occurrence and identit y of naturalizedalien vascular plant taxa across geographic regions (e.g. countries, states, provinces, districts,islands) around the globe. The dataset includes 13,939 taxa and covers 1,029 regions (including381 islands). The dataset is based on 210 data sources. For each ta x on-b y-region combination, wepr ovide information on whether the tax on is consider ed to be naturalized in the specific region(i.e. has established self-sustaining popula tions in the wild). Non-native taxa are marked as“alien”, when it is not clear whether they are naturalized. To facilitate alignment with other plantdatabases, we pro v ide f or each taxon the name as given in the original data source and the stan-dardized taxon and family names used by The Plant List Version 1.1 (http://www.theplantlist.org/). We pro vide an ESRI shapefile including polygons f or each region and informa tion on whetherit is an island or a mainland region, the country and the Taxonomic Databases Working Group(TDWG) regions it is part of (TDWG levels 1–4). We also provide several variables that can beused to filter the data according to quality and completeness of alien taxon lists, which varyamong the combinations of regions and da ta sources. A pre vious version of the GloNAF dataset(version 1.1) has already been used in several studies on, for example, historical spatial flows oftaxa between continents and geographical patterns and determinants of naturalization across dif-ferent taxonomic groups. We intend the updated and expanded GloNAF version presented hereto be a global resource useful for studying plant inv asions and changes in biodiversity from regio-nal to global scales. We release these data into the public domain under a Crea ti ve CommonsZer o license waiver (https://creati v ecommons.org/share-y our -work/public-domain/cc0/). Wheny ou use the da ta in your publication, we request that y ou cite this da ta paper. If GloN AF is amajor part of the data analyzed in your study, you should consider inviting the GloNAF coreteam (see Metadata S1: Originators in the Overall project description) as collaborators. If youplan to use the GloNAF dataset, we encourage y ou to contact the GloNAF core team to checkwhether there have been recent updates of the dataset, and whether similar analyses are already ongoing

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Publisher Copyright: © 2022, The Author(s).Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3–5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.Peer reviewe

Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study

Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on postoperative recovery needs to be understood to inform clinical decision making during and after the COVID-19 pandemic. This study reports 30-day mortality and pulmonary complication rates in patients with perioperative SARS-CoV-2 infection. Methods: This international, multicentre, cohort study at 235 hospitals in 24 countries included all patients undergoing surgery who had SARS-CoV-2 infection confirmed within 7 days before or 30 days after surgery. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The main secondary outcome measure was pulmonary complications, defined as pneumonia, acute respiratory distress syndrome, or unexpected postoperative ventilation. Findings: This analysis includes 1128 patients who had surgery between Jan 1 and March 31, 2020, of whom 835 (74·0%) had emergency surgery and 280 (24·8%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (26·1%) patients. 30-day mortality was 23·8% (268 of 1128). Pulmonary complications occurred in 577 (51·2%) of 1128 patients; 30-day mortality in these patients was 38·0% (219 of 577), accounting for 81·7% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 1·75 [95% CI 1·28–2·40], p\textless0·0001), age 70 years or older versus younger than 70 years (2·30 [1·65–3·22], p\textless0·0001), American Society of Anesthesiologists grades 3–5 versus grades 1–2 (2·35 [1·57–3·53], p\textless0·0001), malignant versus benign or obstetric diagnosis (1·55 [1·01–2·39], p=0·046), emergency versus elective surgery (1·67 [1·06–2·63], p=0·026), and major versus minor surgery (1·52 [1·01–2·31], p=0·047). Interpretation: Postoperative pulmonary complications occur in half of patients with perioperative SARS-CoV-2 infection and are associated with high mortality. Thresholds for surgery during the COVID-19 pandemic should be higher than during normal practice, particularly in men aged 70 years and older. Consideration should be given for postponing non-urgent procedures and promoting non-operative treatment to delay or avoid the need for surgery. Funding: National Institute for Health Research (NIHR), Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, NIHR Academy, Sarcoma UK, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Funder: QingLan Research Project of Jiangsu for Outstanding Young TeachersFunder: Project funded by Postdoctoral Science Foundation of Xuzhou Medical UniversityFunder: Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD) for Xuzhou Medical UniversityAbstract: We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). We further evaluated mediation roles of lipids in the pathway from LTL to ALS. The odds ratio per standard deviation decrease of LTL on ALS was 1.10 (95% CI 0.93–1.31, p = 0.274) in the European population and 0.75 (95% CI 0.53–1.07, p = 0.116) in the Asian population. This null association was also detected between LTL and frontotemporal dementia in the European population. However, we found that an indirect effect of LTL on ALS might be mediated by low density lipoprotein (LDL) or total cholesterol (TC) in the European population. These results were robust against extensive sensitivity analyses. Overall, our MR study did not support the direct causal association between LTL and the ALS risk in neither population, but provided suggestive evidence for the mediation role of LDL or TC on the influence of LTL and ALS in the European population

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA\xe2\x80\x99s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (PPeer reviewe

WHO global research priorities for antimicrobial resistance in human health

The WHO research agenda for antimicrobial resistance (AMR) in human health has identified 40 research priorities to be addressed by the year 2030. These priorities focus on bacterial and fungal pathogens of crucial importance in addressing AMR, including drug-resistant pathogens causing tuberculosis. These research priorities encompass the entire people-centred journey, covering prevention, diagnosis, and treatment of antimicrobial-resistant infections, in addition to addressing the overarching knowledge gaps in AMR epidemiology, burden and drivers, policies and regulations, and awareness and education. The research priorities were identified through a multistage process, starting with a comprehensive scoping review of knowledge gaps, with expert inputs gathered through a survey and open call. The priority setting involved a rigorous modified Child Health and Nutrition Research Initiative approach, ensuring global representation and applicability of the findings. The ultimate goal of this research agenda is to encourage research and investment in the generation of evidence to better understand AMR dynamics and facilitate policy translation for reducing the burden and consequences of AMR

Balanophora coralliformis Barcelona, Tandang & Pelser 2014, sp. nov.

Balanophora coralliformis Barcelona, Tandang & Pelser, sp. nov. (Figs. 1 & 2) Type: — PHILIPPINES. Luzon: Aurora Province, San Luis Municipality, Mt. Mingan, beside trail en route to summit, 15°27’48.8” N, 121°23’43.3” E, c. 1725 m, 23 February 2014, Barcelona 3895 with Pelser & Tandang (staminate plant; holotype: PNH, isotypes: CHR, K, PUH, US). Balanophora coralliformis differs from all other described Balanophora species in the coral-like growth of repeatedly branched aboveground tubers. Also the poorly known B. fungosa J.R. Forster & G. Forster (1775: 99) ssp. indica (Arnott 1838: 37) Hansen (1972: 100) var. minor (Eichler in De Candolle 1873: 145) Hansen (1972: 106) from south India, Sri Lanka, and Thailand (Hansen 1972, Nickrent 1997 onwards, Su et al. 2012) is described as having elongated, cylindrical tuber segments (Hansen 1972, Su et al. 2012), but photos on the Parasitic Plant Connection website (Nickrent 1997 onwards) suggest that these are subterranean. Furthermore, amongst others, the leaves of this variety are more numerous (15–35 vs. 4 or 5) and spirally arranged (vs. opposite), and the staminate flowers are actinomorphic (vs. bisymmetric).Published as part of Pelser, Pieter B., Tandang, Danilo N. & Barcelona, Julie F., 2014, Balanophora coralliformis (Balanophoraceae), a new species from Mt. Mingan, Luzon, Philippines, pp. 291-295 in Phytotaxa 170 (4) on page 291, DOI: 10.11646/phytotaxa.170.4.7, http://zenodo.org/record/513912