273 research outputs found
A case study of the internal structures of gossans and weathering processes in the Iberian Pyrite Belt using magnetic fabrics and paleomagnetic dating
International audienceIn the Rio Tinto district of the Iberian Pryrite Belt of South Spain, the weathering of massive sulfide bodies form iron caps, i.e., true gossans and their subsequent alteration and re-sedimentation has resulted in iron terraces, i.e., displaced gossans. To study the stucture and evolution of both types of gossans, magnetic investigations have been carried out with two foci: (1) the characterisation and spatial distribution of magnetic fabrics in different mineralised settings, including massive sulfides, gossans, and terraces, and (2) paleomagnetic dating. Hematite has been identified as the suceptibility carrier in all sites and magnetic fabric investigation of four gossans reveals a vertical variation from top to bottom, with: (1) a horizontal foliation refered to as "mature" fabric in the uppermost part of the primary gossans, (2) highly inclined or vertical foliation interpreted as "immature" fabric between the uppermost and lowermost parts, and (3) a vertical foliation interpreted to be inherited from Hercynian deformation in the lowermost part of the profiles. In terraces, a horizontal foliation dominates and is interpreted to be a "sedimentary" fabric. Rock magnetic studies of gossan samples have identified goethite as the magnetic remanence carrier for the low-temperature component, showing either a single direction close to the present Earth field (PEF) direction or random directions. Maghemite, hematite, and occasionally magnetite are the remanence carriers for the stable high-temperature component that is characterized by non PEF directions with both normal and reversed magnetic polarities. No reliable conclusion can be yet be drawn on the timing of terrace magnetization due to the small number of samples. In gossans, the polarity is reversed in the upper part and normal in the lower part. This vertical distribution with a negative reversal test suggests remanence formation during two distinct periods. Remanence in the upper parts of the gossans is older than in the lower parts, indicating that the alteration proceeded from top to bottom of the profiles. In the upper part, the older age and the horizontal "mature" fabric is interpreted to be a high maturation stage of massive sulfides' alteration. In the lower part, the age is younger and the inherited "imature" vertical Hercynian fabric indicates a weak maturation stage. These two distinct periods may reflect changes of paleoclimate, erosion, and/or tectonic motion
Abnormalities on 1q and 7q are associated with poor outcome in sporadic Burkitt's lymphoma. A cytogenetic and comparative genomic hybridization study
Comparative genomic hybridization (CGH) studies have demonstrated a high incidence of chromosomal imbalances in non-Hodgkin's lymphoma. However, the information on the genomic imbalances in Burkitt's Lymphoma (BL) is scanty. Conventional cytogenetics was performed in 34 cases, and long-distance PCR for t(8;14) was performed in 18 cases. A total of 170 changes were present with a median of four changes per case (range 1-22). Gains of chromosomal material (143) were more frequent than amplifications (5) or losses (22). The most frequent aberrations were gains on chromosomes 12q (26%), Xq (22%), 22q (20%), 20q (17%) and 9q (15%). Losses predominantly involved chromosomes 13q (17%) and 4q (9%). High-level amplifications were present in the regions 1q23-31 (three cases), 6p12-p25 and 8p22-p23. Upon comparing BL vs Burkitt's cell leukemia (BCL), the latter had more changes (mean 4.3 +/- 2.2) than BL (mean 2.7 +/- 3.2). In addition, BCL cases showed more frequently gains on 8q, 9q, 14q, 20q, and 20q, 9q, 8q and 14q, as well as losses on 13q and 4q. Concerning outcome, the presence of abnormalities on 1q (ascertained either by cytogenetics or by CGH), and imbalances on 7q (P=0.01) were associated with a short survival
Personal protective measures and settings on the risk of SARS-COV-2 community transmission: a case-control study
A preprint of this article is available on SSRN at https://doi.org/10.2139/ssrn.4395325. It has not been certified by peer review.Copyright: © 2023 Huguet-Torres, Castro-Sánchez, Capitán-Moyano, Rodríguez-Sánchez, Bennasar-Veny and Yañez. Background: During the SARS-CoV-2 pandemic, nurses of primary health care has been an important role in Spain. Even so, the data obtained in the tracing have been scarcely used to investigate the possible mechanisms of transmission. Few studies focused on community transmission, evaluating the effectiveness of individual protective measures and exposure environment. The main aim of the study was to evaluate the association between individual protective measures and SARS-CoV-2 transmission in the community and to compare secondary attack rates in different exposure settings.
Methods: A case-control study from contact tracing of SARS-CoV-2 index patients. COVID-19 contact tracing was led by nurses at the COVID-19 Coordinating Centre in Majorca (Spain). During the systematic tracing, additional information for this study was collected from the index patient (social-demographic variables, symptoms, the number of close contacts). And also, the following variables from their close contacts: contact place, ventilation characteristics mask-wearing, type of mask, duration of contact, shortest distance, case-contact relationship, household members, and handwashing, the test result for SARS-CoV-2 diagnostic. Close contacts with a positive test for SARS-CoV-2 were classified as "cases" and those negative as "controls".
Results: A total of 1,778 close contacts from 463 index patients were identified. No significant differences were observed between the sexes but between age groups. Overall Secondary Attack Rate (SAR) was 24.0% (95% CI: 22.0%-26.0%), 36.9% (95% CI: 33.2%-40.6%) in closed spaces without ventilation and 50.7% (95% CI: 45.6%-55.8%) in exposure time >24 hours. A total of 49.2% of infections occurred among household members. Multivariate logistic regression analysis showed that open-air setting (OR 0.43, 95% CI: 0.27-0.71), exposure for less than 1 hour (OR 0.19, 95% CI: 0.11-0.32), and wearing a mask (OR 0.49, 95% CI: 0.28-0.85) had a protective effect transmission of SARS-CoV-2 in the community.
Conclusions: Ventilation of the space, mask-wearing and shorter exposure time were associated with a lower risk of transmission in the community. The data obtained allowed an assessment of community transmission mechanisms and could have helped to improve and streamline tracing by identifying close contacts at higher risk.Royal College of Nurses from the Balearic Islands (Ref.: 2021-0564); Florence Nightingale fellowship program, Royal College of Nurses from the Balearic Islands and the Nursing and Physiotherapy Department, University of the Balearic Islands
Differential effect of MMSET mRNA levels on survival to first-line FOLFOX and second-line docetaxel in gastric cancer
Breast cancer susceptibility gene 1 (BRCA1) expression differentially affects outcome to platinum- and taxane-based chemotherapy. Mediator of DNA damage checkpoint protein 1 (MDC1), p53-binding protein 1 (53BP1), multiple myeloma SET domain (MMSET) and ubiquitin-conjugating enzyme 9 (UBC9) are involved in DNA repair and could modify the BRCA1 predictive model. Mediator of DNA damage checkpoint protein 1, 53BP1, MMSET and UBC9 mRNA were assessed in gastric tumours from patients in whom BRCA1 levels had previously been determined. In vitro chemosensitivity assay, MMSET levels were higher in docetaxel-sensitive samples. In a separate cohort, survival was longer in those with low MMSET (12.3 vs 8.8 months; P =0.04) or UBC9 (12.4 vs 8.8 months; P =0.01) in patients receiving only folinic acid, fluorouracil (5-FU) and oxaliplatin (FOLFOX). Conversely, among patients receiving second-line docetaxel, longer survival was associated with high MMSET (19.1 vs 13.9 months; P =0.003). Patients with high MMSET and BRCA1 attained a median survival of 36.6 months, compared with 13.9 months for those with high BRCA1 and low MMSET (P =0.003). In the multivariate analyses, low MMSET (hazard ratio (HR), 0.59; P =0.04) and low UBC9 (HR, 0.52; P =0.01) levels were markers of longer survival to first-line FOLFOX, whereas palliative surgery (HR, 2.47; P =0.005), low BRCA1 (HR, 3.17; P =0.001) and low MMSET (HR, 2.52; P =0.004) levels were markers of shorter survival to second-line docetaxel. Breast cancer susceptibility gene 1, MMSET and UBC9 can be useful for customising chemotherapy in gastric cancer patients
Bovine Polledness – An Autosomal Dominant Trait with Allelic Heterogeneity
The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for a solution in the production of hornless cattle other than dehorning. Although the dominant inhibition of horn morphogenesis was discovered more than 70 years ago, and the causative mutation was mapped almost 20 years ago, its molecular nature remained unknown. Here, we report allelic heterogeneity of the POLLED locus. First, we mapped the POLLED locus to a ∼381-kb interval in a multi-breed case-control design. Targeted re-sequencing of an enlarged candidate interval (547 kb) in 16 sires with known POLLED genotype did not detect a common allele associated with polled status. In eight sires of Alpine and Scottish origin (four polled versus four horned), we identified a single candidate mutation, a complex 202 bp insertion-deletion event that showed perfect association to the polled phenotype in various European cattle breeds, except Holstein-Friesian. The analysis of the same candidate interval in eight Holsteins identified five candidate variants which segregate as a 260 kb haplotype also perfectly associated with the POLLED gene without recombination or interference with the 202 bp insertion-deletion. We further identified bulls which are progeny tested as homozygous polled but bearing both, 202 bp insertion-deletion and Friesian haplotype. The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations
Rate and duration of hospitalisation for acute pulmonary embolism in the real-world clinical practice of different countries : Analysis from the RIETE registry
publishersversionPeer reviewe
Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals
peer-reviewedH.D.D., A.J.C., P.J.B. and B.J.H. would like to acknowledge the Dairy Futures
Cooperative Research Centre for funding. H.P. and R.F. acknowledge funding
from the German Federal Ministry of Education and Research (BMBF) within the
AgroClustEr ‘Synbreed—Synergistic Plant and Animal Breeding’ (grant 0315527B).
H.P., R.F., R.E. and K.-U.G. acknowledge the Arbeitsgemeinschaft Süddeutscher
Rinderzüchter, the Arbeitsgemeinschaft Österreichischer Fleckviehzüchter
and ZuchtData EDV Dienstleistungen for providing genotype data. A. Bagnato
acknowledges the European Union (EU) Collaborative Project LowInputBreeds
(grant agreement 222623) for providing Brown Swiss genotypes. Braunvieh Schweiz
is acknowledged for providing Brown Swiss phenotypes. H.P. and R.F. acknowledge
the German Holstein Association (DHV) and the Confederación de Asociaciones
de Frisona Española (CONCAFE) for sharing genotype data. H.P. was financially
supported by a postdoctoral fellowship from the Deutsche Forschungsgemeinschaft
(DFG) (grant PA 2789/1-1). D.B. and D.C.P. acknowledge funding from the
Research Stimulus Fund (11/S/112) and Science Foundation Ireland (14/IA/2576).
M.S. and F.S.S. acknowledge the Canadian Dairy Network (CDN) for providing the
Holstein genotypes. P.S. acknowledges funding from the Genome Canada project
entitled ‘Whole Genome Selection through Genome Wide Imputation in Beef Cattle’ and acknowledges WestGrid and Compute/Calcul Canada for providing
computing resources. J.F.T. was supported by the National Institute of Food and
Agriculture, US Department of Agriculture, under awards 2013-68004-20364 and
2015-67015-23183. A. Bagnato, F.P., M.D. and J.W. acknowledge EU Collaborative
Project Quantomics (grant 516 agreement 222664) for providing Brown Swiss
and Finnish Ayrshire sequences and genotypes. A.C.B. and R.F.V. acknowledge
funding from the public–private partnership ‘Breed4Food’ (code BO-22.04-011-
001-ASG-LR) and EU FP7 IRSES SEQSEL (grant 317697). A.C.B. and R.F.V.
acknowledge CRV (Arnhem, the Netherlands) for providing data on Dutch and
New Zealand Holstein and Jersey bulls.Stature is affected by many polymorphisms of small effect in humans1. In contrast, variation in dogs, even within breeds, has been suggested to be largely due to variants in a small number of genes2,3. Here we use data from cattle to compare the genetic architecture of stature to those in humans and dogs. We conducted a meta-analysis for stature using 58,265 cattle from 17 populations with 25.4 million imputed whole-genome sequence variants. Results showed that the genetic architecture of stature in cattle is similar to that in humans, as the lead variants in 163 significantly associated genomic regions (P < 5 × 10−8) explained at most 13.8% of the phenotypic variance. Most of these variants were noncoding, including variants that were also expression quantitative trait loci (eQTLs) and in ChIP–seq peaks. There was significant overlap in loci for stature with humans and dogs, suggesting that a set of common genes regulates body size in mammals
Rearranged EML4-ALK fusion transcripts sequester in circulating blood platelets and enable blood-based crizotinib response monitoring in non-small-cell lung cancer
Purpose: Non-small-cell lung cancers harboring EML4-ALK rearrangements are sensitive to crizotinib. However, despite initial response, most patients will eventually relapse, and monitoring EML4-ALK rearrangements over the course of treatment may help identify these patients. However, challenges associated with serial tumor biopsies have highlighted the need for blood-based assays for the monitoring of biomarkers. Platelets can sequester RNA released by tumor cells and are thus an attractive source for the non-invasive assessment of biomarkers. Methods: EML4-ALK rearrangements were analyzed by RT-PCR in platelets and plasma isolated from blood obtained from 77 patients with non-small-cell lung cancer, 38 of whom had EML4-ALK-rearranged tumors. In a subset of 29 patients with EML4-ALK-rearranged tumors who were treated with crizotinib, EML4-ALK rearrangements in platelets were correlated with progression-free and overall survival. Results: RT-PCR demonstrated 65% sensitivity and 100% specificity for the detection of EML4-ALK rearrangements in platelets. In the subset of 29 patients treated with crizotinib, progression-free survival was 3.7 months for patients with EML4-ALK+ platelets and 16 months for those with EML4-ALK− platelets (hazard ratio, 3.5; P = 0.02). Monitoring of EML4-ALK rearrangements in the platelets of one patient over a period of 30 months revealed crizotinib resistance two months prior to radiographic disease progression. Conclusions: Platelets are a valuable source for the non-invasive detection of EML4-ALK rearrangements and may prove useful for predicting and monitoring outcome to crizotinib, thereby improving clinical decisions based on radiographic imaging alone
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 (740%) had emergency surgery and 280 (248%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (261%) patients. 30-day mortality was 238% (268 of 1128). Pulmonary complications occurred in 577 (512%) of 1128 patients; 30-day mortality in these patients was 380% (219 of 577), accounting for 817% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 175 [95% CI 128-240], p<00001), age 70 years or older versus younger than 70 years (230 [165-322], p<00001), American Society of Anesthesiologists grades 3-5 versus grades 1-2 (235 [157-353], p<00001), malignant versus benign or obstetric diagnosis (155 [101-239], p=0046), emergency versus elective surgery (167 [106-263], p=0026), and major versus minor surgery (152 [101-231], p=0047). 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
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