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1.
PLoS One ; 19(3): e0299512, 2024.
Article in English | MEDLINE | ID: mdl-38466685

ABSTRACT

Archaeological systematics, together with spatial and chronological information, are commonly used to infer cultural evolutionary dynamics in the past. For the study of the Palaeolithic, and particularly the European Final Palaeolithic and earliest Mesolithic, proposed changes in material culture are often interpreted as reflecting historical processes, migration, or cultural adaptation to climate change and resource availability. Yet, cultural taxonomic practice is known to be variable across research history and academic traditions, and few large-scale replicable analyses across such traditions have been undertaken. Drawing on recent developments in computational archaeology, we here present a data-driven assessment of the existing Final Palaeolithic/earliest Mesolithic cultural taxonomy in Europe. Our dataset consists of a large expert-sourced compendium of key sites, lithic toolkit composition, blade and bladelet production technology, as well as lithic armatures. The dataset comprises 16 regions and 86 individually named archaeological taxa ('cultures'), covering the period between ca. 15,000 and 11,000 years ago (cal BP). Using these data, we use geometric morphometric and multivariate statistical techniques to explore to what extent the dynamics observed in different lithic data domains (toolkits, technologies, armature shapes) correspond to each other and to the culture-historical relations of taxonomic units implied by traditional naming practice. Our analyses support the widespread conception that some dimensions of material culture became more diverse towards the end of the Pleistocene and the very beginning of the Holocene. At the same time, cultural taxonomic unit coherence and efficacy appear variable, leading us to explore potential biases introduced by regional research traditions, inter-analyst variation, and the role of disjunct macroevolutionary processes. In discussing the implications of these findings for narratives of cultural change and diversification across the Pleistocene-Holocene transition, we emphasize the increasing need for cooperative research and systematic archaeological analyses that reach across research traditions.


Subject(s)
Archaeology , Cultural Evolution , Europe , Technology , Fossils
2.
Anim Genet ; 55(2): 257-264, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38131417

ABSTRACT

Milk yield and composition phenotypes are systematically recorded across several lactations in goats, but the majority of genome-wide association studies (GWAS) performed so far have rather ignored the longitudinal nature of such data. Here, we have used two different GWAS approaches to analyse data from three lactations recorded in Murciano-Granadina goats. In Analysis 1, independent GWAS have been carried out for each trait and lactation, while a single longitudinal GWAS, jointly considering all data, has been performed in Analysis 2. In both analyses, genome-wide significant QTL for lactose percentage on chromosome 2 (129.77-131.01 Mb) and for milk protein percentage on the chromosome 6 (74.8-94.6 Mb) casein gene cluster region were detected. In Analysis 1, several QTL were not replicated in all three lactations, possibly due to the existence of lactation-specific genetic determinants. In Analysis 2, we identified several genome-wide significant QTL related to milk yield and protein content that were not uncovered in Analysis 1. The increased number of QTL identified in Analysis 2 suggests that the longitudinal GWAS is particularly well suited for the genetic analysis of dairy traits. Moreover, our data confirm that variability within or close to the casein complex is the main genetic determinant of milk protein percentage in Murciano-Granadina goats.


Subject(s)
Caseins , Genome-Wide Association Study , Female , Animals , Genome-Wide Association Study/veterinary , Caseins/genetics , Goats/genetics , Lactation/genetics , Phenotype , Milk Proteins/genetics
3.
Sensors (Basel) ; 23(24)2023 Dec 07.
Article in English | MEDLINE | ID: mdl-38139524

ABSTRACT

The Compact Muon Solenoid (CMS) experiment is a general-purpose detector for high-energy collision at the Large Hadron Collider (LHC) at CERN. It employs an online data quality monitoring (DQM) system to promptly spot and diagnose particle data acquisition problems to avoid data quality loss. In this study, we present a semi-supervised spatio-temporal anomaly detection (AD) monitoring system for the physics particle reading channels of the Hadron Calorimeter (HCAL) of the CMS using three-dimensional digi-occupancy map data of the DQM. We propose the GraphSTAD system, which employs convolutional and graph neural networks to learn local spatial characteristics induced by particles traversing the detector and the global behavior owing to shared backend circuit connections and housing boxes of the channels, respectively. Recurrent neural networks capture the temporal evolution of the extracted spatial features. We validate the accuracy of the proposed AD system in capturing diverse channel fault types using the LHC collision data sets. The GraphSTAD system achieves production-level accuracy and is being integrated into the CMS core production system for real-time monitoring of the HCAL. We provide a quantitative performance comparison with alternative benchmark models to demonstrate the promising leverage of the presented system.

4.
Trials ; 24(1): 694, 2023 Oct 27.
Article in English | MEDLINE | ID: mdl-37891616

ABSTRACT

BACKGROUND: Multidrug-resistant Gram-negative bacterial (MRGNB) infections represent a major public health threat. Cancer patients and, among them, hematological patients are most vulnerable to these infections. Gut colonization by MRGNB is a common phenomenon occurring during hospitalization and chemotherapy exposure. In the neutropenic phase that occurs after chemotherapy, MRGNB translocation occurs increasing patient's mortality. Fluoroquinolone prophylaxis with ciprofloxacin or levofloxacin efficacy is now being questioned due to the increase of incidence in MRGNB. METHODS: A phase III randomized, controlled, clinical trial, open-label parallel-group with a 1:1 ratio, aimed to demonstrate the non-inferiority of oral fosfomycin versus oral ciprofloxacin for febrile neutropenia prevention in patients with acute leukemia (AL) or hematopoietic cell transplant (HSC) receptors. Weekly surveillance cultures are planned to detect gut colonization. Changes in fecal microbiome at the beginning and end of prophylaxis will also be analyzed. DISCUSSION: This trial will provide evidence of the efficacy of an alternative drug to ciprofloxacin for febrile neutropenia prevention in high-risk hematological patients. The battery of planned microbiological studies will allow us to evaluate prospectively the microbiological safety of both pharmacological strategies in terms of the selection of MRGNB occurring in each arm. In addition, valuable information on the way in which each drug changes the fecal microbiome of the patients throughout the treatment will be generated. TRIAL REGISTRATION: Clinical trials NCT05311254, Registered on 5 April 2022, https://clinicaltrials.gov/ct2/show/NCT05311254?term=FOVOCIP&cntry=ES&draw=2&rank=1 . PROTOCOL VERSION: 3.0, dated 20 May 2022.


Subject(s)
Febrile Neutropenia , Fosfomycin , Hematopoietic Stem Cell Transplantation , Leukemia, Myeloid, Acute , Humans , Ciprofloxacin/adverse effects , Fosfomycin/therapeutic use , Febrile Neutropenia/diagnosis , Febrile Neutropenia/drug therapy , Anti-Bacterial Agents/adverse effects
6.
Nanoscale Adv ; 5(17): 4415-4423, 2023 Aug 24.
Article in English | MEDLINE | ID: mdl-37638153

ABSTRACT

This work investigates the potential utilization of Cu(i) as a reducing agent for the transformation of the platinum salt K2PtCl4, resulting in the production of stable nanoparticles. The synthesized nanoparticles exhibit a bimetallic composition, incorporating copper within their final structure. This approach offers a convenient and accessible methodology for the production of bimetallic nanostructures. The catalytic properties of these novel nanomaterials have been explored in various applications, including their use as artificial metalloenzymes and in the degradation of dyes. The findings underscore the significant potential of Cu(i)-mediated reduction in the development of functional nanomaterials with diverse catalytic applications.

7.
Anim Genet ; 54(4): 491-499, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37127297

ABSTRACT

Hematological traits are important indicators of health status, and they are frequently used as criteria for clinical diagnosis. In humans, the genomic architecture of blood traits has been investigated in depth and thousands of associations with genetic variants have been found. In contrast, the association between marker genotypes and the variation of hematological traits has not been investigated in goats yet. Herewith, we have recorded 12 hematological parameters in 882 Murciano-Granadina goats that were also genotyped with the Goat SNP50 BeadChip (Illumina). Performance of a univariate genome-wide association study (GWAS) made it possible to detect one genomic region on goat chromosome (CHI) 21 (19.2-19.5 Mb) associated, at the genome-wide level of significance, with 4 red blood cell traits. The three markers displaying the highest significances were rs268272996 (CHI21: 19225290 bp), rs268273004 (CHI21: 19565629 bp) and rs268239059 (CHI13: 9615190 bp). Consistently, a multivariate GWAS indicated that the rs268273004 marker on chromosome 21 is associated with seven blood cell traits. Interestingly, this marker maps close to the FA Complementation Group I (FANCI) gene (CHI21: 20021947-20077025 bp), which is functionally related to Fanconi anemia, a syndrome characterized by bone marrow failure, aplastic anemia, and congenital disorders. We have also uncovered additional chromosome-wide significant associations between genetic markers and erythrocyte and leukocyte traits in the univariate GWAS. These findings evidence that the phenotypic variation of hematological traits in goats is regulated, at least to some extent, by polygenic determinants distributed in multiple chromosomes.


Subject(s)
Genome-Wide Association Study , Polymorphism, Single Nucleotide , Humans , Animals , Genome-Wide Association Study/veterinary , Goats/genetics , Phenotype , Genotype
8.
Vascular ; : 17085381231174923, 2023 May 06.
Article in English | MEDLINE | ID: mdl-37148206

ABSTRACT

OBJECTIVE: Primary aortoenteric fistulas (PAEFs) are a rare entity with high morbidity, and their relationship with Bacillus Instillation of Calmette-Guérin is anecdotal. METHODS/RESULTS: We present a 68-year-old male with a primary aortoenteric fistula after instillation of Bacillus Calmette-Guérin (BCG) for a non-muscle-invasive bladder cancer. Diagnosis was made by CT angiography, subsequently confirmed by intraoperative findings and results of anatomopathological studies of aortic wall samples. We performed an in-situ reconstruction with a silver prosthesis impregnated in rifampicin with satisfactory evolution at one year. CONCLUSIONS: Primary aortoenteric fistula is an extremely rare complication, and although its relationship with intravesical BCG therapy is anecdotal, it should be considered in patients with gastrointestinal bleeding who have previously undergone this treatment. Its diagnosis requires clinical suspicion, and its treatment should be carried out without delay. Long-term targeted anti-biotherapeutic treatment is a fundamental pillar for its management. Reconstruction with an antibiotic-impregnated silver prosthesis is a valid option in cases of controlled infection.

9.
Allergy Asthma Immunol Res ; 15(2): 201-213, 2023 Mar.
Article in English | MEDLINE | ID: mdl-37021506

ABSTRACT

PURPOSE: Clavulanate, a beta-lactam associated with amoxicillin, is frequently prescribed in patients at all ages. Recent data implicate amoxicillin-clavulanate in up to 80% of beta-lactam allergy cases. We assessed clavulanate's role in inducing allergic reactions to this combination treatment, with a focus on selective immediate reactions. METHODS: Adults (≥ 16 years) reporting a history of immediate reactions to amoxicillin-clavulanate were evaluated through a beta-lactam allergological workup, using modified European Academy of Allergy and Clinical Immunology guidelines. Patients first underwent skin testing, and if negative, drug provocation tests. Expected outcomes were: Group A, subjects with immediate reaction to classical penicillin group determinants (penicilloyl polylysine, minor determinants mixture, and/or penicillin G); Group B, subjects with selective immediate reaction to amoxicillin; Group C, subjects with selective immediate reaction to clavulanate and Group D, those immediate reactions with co-sensitization to clavulanate plus penicillin group determinants or amoxicillin. RESULTS: Of 1,170 included patients, 104 had immediate reactions: 36.5% to penicillin group determinants (Group A), 26.9% to amoxicillin (Group B), 32.7% to clavulanate (Group C), and 3.8% to clavulanate plus penicillin determinants or amoxicillin (Group D). Diagnosis was made by skin testing in 79%, 75% and 47% of the patients, respectively, in the first 3 groups (P < 0.001). Drug provocation tests were necessary to establish most other diagnoses. Anaphylaxis predominated over urticaria/angioedema in all groups. CONCLUSIONS: Selective immediate reactions to clavulanate accounted for over a third of cases with confirmed reactions after amoxicillin-clavulanate intake, with more than half experiencing anaphylaxis. Within this group, skin test sensitivity was below 50%. People taking amoxicillin-clavulanate may also be co-sensitized to both drugs.

10.
J Comput Chem ; 44(15): 1426-1436, 2023 Jun 05.
Article in English | MEDLINE | ID: mdl-36905299

ABSTRACT

Recently, halogen bonding (XB) has received increased attention as a new type of non-covalent interaction widely present in nature. In this work, quantum chemical calculations at DFT level have been carried out to investigate halogen bonding interactions between COn (n = 1 or 2) and dihalogen molecules XY (X = F, Cl, Br, I and Y = Cl, Br, I). Highly accurate all-electron data, estimated by CCSD(T) calculations, were used to benchmark the different levels of computational methods with the objective of finding the best accuracy/computational cost. Molecular electrostatic potential, interaction energy values, charge transfer, UV spectra, and natural bond orbital (NBO) analysis were determined to better understand the nature of the XB interaction. Density of states (DOS) and projected DOS were also computed. Hence, according to these results, the magnitude of the halogen bonding is affected by the halogen polarizability and electronegativity, where for the more polarizable and less electronegative halogen atoms, the σ-hole is bigger. Furthermore, for the halogen-bonded complexes involving CO and XY, the OC∙∙∙XY interaction is stronger than the CO∙∙∙XY interaction. Thus, the results presented here can establish fundamental characteristics of halogen bonding in media, which would be very helpful for applying this noncovalent interaction for the sustainable capture of carbon oxides.

11.
Coluna/Columna ; 22(2): e270983, 2023. tab, graf
Article in English | LILACS | ID: biblio-1439963

ABSTRACT

ABSTRACT Neuromuscular taping or kinesiotaping is a technique widely used in spinal disorders. However, the scientific evidence of its use in discopathies and degenerative spine pathology is unknown. This study aimed to analyze the published clinical trials on neuromuscular taping in subjects with discopathies and degenerative spinal injuries. For this purpose, a literature search was performed following PRISMA guidelines in the following databases: PubMed, Web of Science (WOS), Scopus, Medline, and Cinahl. In analyzing bias and methodological quality, we used: the PEDro scale, Van Tulder criteria, and risk of bias analysis of the Cochrane Collaboration. A total of 5 articles were included that obtained a mean score of 6.2 on the PEDro scale. There is moderate evidence that, in the short term, neuromuscular taping reduces analgesic consumption and improves the range of motion and muscle strength in the posterior musculature. In addition, there is limited evidence that it can improve quality, while the scientific evidence on the effect of neuromuscular taping on pain is contradictory. The application of neuromuscular taping on discopathies and degenerative processes of the spine should be cautiously undertaken until more conclusive results are obtained, and the long-term effects are assessed. Level of evidence I; Systematic review.


Resumo: A bandagem neuromuscular ou kinesiotaping é uma técnica de bandagem amplamente utilizada em distúrbios da coluna vertebral. Entretanto, a evidência científica para seu uso em discopatias e na patologia degenerativa da coluna são desconhecidas. Objetivo: O objetivo deste trabalho foi analisar ensaios clínicos publicados sobre bandagem neuromuscular em sujeitos com discopatias e lesões degenerativas da coluna vertebral. Para este fim, foi realizada uma pesquisa bibliográfica seguindo as diretrizes do PRISMA nas seguintes bases de dados: PubMed, Web of Science (WOS), Scopus, Medline e Cinahl. Na análise de viés e qualidade metodológica, foram utilizados: escala PEDro, critérios de Van Tulder e análise de risco de viés da Colaboração Cochrane. Um total de 5 artigos foi incluído com uma pontuação média de 6,2 na escala PEDro. Há evidências moderadas de que, a curto prazo, a bandagem neuromuscular reduz o consumo de analgésicos, melhora a amplitude de movimento e a força muscular na musculatura posterior. Além disso, há evidências limitadas de que pode melhorar a qualidade, enquanto as evidências científicas sobre o efeito da bandagem neuromuscular na dor são contraditórias. A aplicação da bandagem neuromuscular em discopatias e processos degenerativos da coluna vertebral deve ser feita com cautela até que resultados mais conclusivos sejam obtidos e os efeitos a longo prazo sejam avaliados. Nível de evidência I; Revisão sistemática.


Resumen: El vendaje neuromuscular o kinesiotaping es una técnica de vendaje que se utiliza ampliamente en trastornos raquídeos. Sin embargo, se desconoce la evidencia científica de uso en discopatías y patología degenerativa de la columna. El objetivo de este trabajo consistió en analizar los ensayos clínicos publicados sobre el vendaje neuromuscular en sujetos con discopatías y lesiones degenerativas del raquis. Para ello, se realizó una búsqueda bibliográfica siguiendo las directrices PRISMA en las siguientes bases de datos: PubMed, Web of Science (WOS), Scopus, Medline y Cinahl. En el análisis de sesgo y calidad metodológica se utilizaron: escala PEDro, criterios de Van Tulder y análisis del riesgo de sesgo de la Colaboración Cochrane. Se incluyeron un total de 5 artículos que obtuvieron una puntuación media de 6,2 en la escala PEDro. Existe evidencia moderada de que, a corto plazo, el vendaje neuromuscular reduce el consumo de analgésicos, mejora el rango de movimiento y fuerza muscular en la musculatura posterior. Además, existe evidencia limitada de que puede mejorar la calidad, mientras que la evidencia científica sobre el efecto del vendaje neuromuscular en el dolor es contradictoria. La aplicación de vendaje neuromuscular es discopatías y procesos degenerativos del raquis debe realizarse con cautela a la espera de que se obtengan resultados más concluyentes y se valoren los efectos a largo plazo. Nivel de evidencia I; Revisión sistemática.


Subject(s)
Humans , Athletic Tape , Intervertebral Disc Degeneration , Spinal Diseases
12.
Rev. argent. microbiol ; 54(2): 121-130, jun. 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1407187

ABSTRACT

Resumen Dolosigranulum pigrum es un coco gram positivo, anaerobio facultativo, que forma parte de la microbiota oral y del tracto respiratorio superior. Aunque los reportes de infecciones por este microorganismo son escasos, se lo ha asociado a un amplio espectro de enfermedades infecciosas. Se describe el caso de un hombre adulto con un absceso corneal del que se aisló D. pigrum. El microorganismo fue identificado por espectrometría de masas (MALDI-TOF MS) y secuenciación del gen 16S ARNr. A su vez, se logró la identificación presuntiva mediante pruebas fenotípicas claves, como la disposición en racimos en la coloración de Gram, la prueba negativa de la catalasa, la producción de pirrolidonil arilamidasa y leucina aminopeptidasa, el crecimiento en NaCl al 6,5% y la hidrólisis de esculina. Los datos de la literatura y el presente caso respaldan la asociación del microorganismo con infecciones oculares, a menudo de curso destructivo, principalmente en pacientes de edad avanzada.


Abstract Dolosigranulum pigrum is a gram-positive, facultatively anaerobic coccus, which is part of the oral and upper respiratory tract microbiota. Although reports of infections by this microorganism are scarce, it has been associated with a wide spectrum of infectious diseases. The case of an elderly man with a lower corneal abscess, in which Dolosigranulum pigrum was isolated, is described. The microorganism was identified by mass spectrometry (MALDI-TOF MS) and by the sequencingof the 16S rRNAgene. Furthermore, the presumptive identification of the causative agent was achieved by using key phenotypic tests such as the cluster arrangement in Gram stain, the negative catalase test, the production of pyrrolidonyl arylamidase and leucine aminopeptidase activity, the growth in 6.5% NaCl and esculin hydrolysis. The data from the literature (and the present case) support the association of the microorganism with ocular infections, which often take a destructive course, mainly in elderly patients.

13.
J Anim Sci Biotechnol ; 13(1): 35, 2022 Mar 10.
Article in English | MEDLINE | ID: mdl-35264251

ABSTRACT

BACKGROUND: Inbreeding depression can adversely affect traits related to fitness, reproduction and productive performance. Although current research suggests that inbreeding levels are generally low in most goat breeds, the impact of inbreeding depression on phenotypes of economic interest has only been investigated in a few studies based on genealogical data. RESULTS: We genotyped 1040 goats with the Goat SNP50 BeadChip. This information was used to estimate different molecular inbreeding coefficients and characterise runs of homozygosity and homozygosity patterns. We detected 38 genomic regions with increased homozygosity as well as 8 ROH hotspots mapping to chromosomes 1, 2, 4, 6, 14, 16 and 17. Eight hundred seventeen goats with available records for dairy traits were analysed to evaluate the potential consequences of inbreeding depression on milk phenotypes. Four regions on chromosomes 8 and 25 were significantly associated with inbreeding depression for the natural logarithm of the somatic cell count. Notably, these regions contain several genes related with immunity, such as SYK, IL27, CCL19 and CCL21. Moreover, one region on chromosome 2 was significantly associated with inbreeding depression for milk yield. CONCLUSIONS: Although genomic inbreeding levels are low in Murciano-Granadina goats, significant evidence of inbreeding depression for the logarithm of the somatic cell count, a phenotype closely associated with udder health and milk yield, have been detected in this population. Minimising inbreeding would be expected to augment economic gain by increasing milk yield and reducing the incidence of mastitis, which is one of the main causes of dairy goat culling.

14.
Preprint in English | medRxiv | ID: ppmedrxiv-22271576

ABSTRACT

Infections caused by SARS-CoV-2 may cause a severe disease, termed COVID-19, with significant mortality. Host responses to this infection, mainly in terms of systemic inflammation, have emerged as key pathogenetic mechanisms, and their modulation is the only therapeutic strategy that has shown a mortality benefit. Herein, we used peripheral blood transcriptomes of critically-ill COVID-19 patients obtained at admission in an Intensive Care Unit (ICU), to identify two transcriptomic clusters characterized by expression of either interferon-related or immune checkpoint genes, respectively. These profiles have different ICU outcome, in spite of no major clinical differences at ICU admission. A transcriptomic signature was used to identify these clusters in an external validation cohort, yielding similar results. These findings reveal different underlying pathogenetic mechanisms and illustrate the potential of transcriptomics to identify patient endotypes in severe COVID-19, aimed to ultimately personalize their therapies.

15.
Frauke Degenhardt; David Ellinghaus; Simonas Juzenas; Jon Lerga-Jaso; Mareike Wendorff; Douglas Maya-Miles; Florian Uellendahl-Werth; Hesham ElAbd; Malte Christoph Ruehlemann; Jatin Arora; Onur Oezer; Ole Bernt Lenning; Ronny Myhre; May Sissel Vadla; Eike Matthias Wacker; Lars Wienbrandt; Aaron Blandino Ortiz; Adolfo de Salazar; Adolfo Garrido Chercoles; Adriana Palom; Agustin Ruiz; Alba-Estela Garcia-Fernandez; Albert Blanco-Grau; Alberto Mantovani; Alberto Zanella; Aleksander Rygh Holten; Alena Mayer; Alessandra Bandera; Alessandro Cherubini; Alessandro Protti; Alessio Aghemo; Alessio Gerussi; Alfredo Ramirez; Alice Braun; Almut Nebel; Ana Barreira; Ana Lleo; Ana Teles; Anders Kildal; Andrea Biondi; Andrea Caballero-Garralda; Andrea Ganna; Andrea Gori; Andreas Glueck; Andreas Lind; Anja Tanck; Anke Hinney; Anna Carreras Carreras Nolla; Anna Ludovica Fracanzani; Anna Peschuck; Annalisa Cavallero; Anne Ma Dyrhol-Riise; Antonella Ruello; Antonio Julia; Antonio Muscatello; Antonio Pesenti; Antonio Voza; Ariadna Rando-Segura; Aurora Solier; Axel Schmidt; Beatriz Cortes; Beatriz Mateos; Beatriz Nafria-Jimenez; Benedikt Schaefer; Bjoern Jensen; Carla Bellinghausen; Carlo Maj; Carlos Ferrando; Carmen de la Horra; Carmen Quereda; Carsten Skurk; Charlotte Thibeault; Chiara Scollo; Christian Herr; Christoph D Spinner; Christoph Gassner; Christoph Lange; Cinzia Hu; Cinzia Paccapelo; Clara Lehmann; Claudio Angelini; Claudio Cappadona; Clinton Azuure; Cristiana Bianco; Cristina Cea; Cristina Sancho; Dag Arne Lihaug Hoff; Daniela Galimberti; Daniele Prati; David Haschka; David Jimenez; David Pestana; David Toapanta; Eduardo Muniz-Diaz; Elena Azzolini; Elena Sandoval; Eleonora Binatti; Elio Scarpini; Elisa T Helbig; Elisabetta Casalone; Eloisa Urrechaga; Elvezia Maria Paraboschi; Emanuele Pontali; Enric Reverter; Enrique J Calderon; Enrique Navas; Erik Solligard; Ernesto Contro; Eunate Arana-Arri; Fatima Aziz; Federico Garcia; Felix Garcia Sanchez; Ferruccio Ceriotti; Filippo Martinelli-Boneschi; Flora Peyvandi; Florian Kurth; Francesco Blasi; Francesco Malvestiti; Francisco J Medrano; Francisco Mesonero; Francisco Rodriguez-Frias; Frank Hanses; Fredrik Mueller; Georg Hemmrich-Stanisak; Giacomo Bellani; Giacomo Grasselli; Gianni Pezzoli; Giorgio Costantino; Giovanni Albano; Giulia Cardamone; Giuseppe Bellelli; Giuseppe Citerio; Giuseppe Foti; Giuseppe Lamorte; Giuseppe Matullo; Guido Baselli; Hayato Kurihara; Holger Neb; Ilaria My; Ingo Kurth; Isabel Hernandez; Isabell Pink; Itziar de Rojas; Ivan Galvan-Femenia; Jan Cato Holter; Jan Egil Afset; Jan Heyckendorf; Jan Kaessens; Jan Kristian Damas; Jan Rybniker; Janine Altmueller; Javier Ampuero; Javier Martin; Jeanette Erdmann; Jesus M Banales; Joan Ramon Badia; Joaquin Dopazo; Jochen Schneider; Jonas Bergan; Jordi Barretina; Joern Walter; Jose Hernandez Quero; Josune Goikoetxea; Juan Delgado; Juan M Guerrero; Julia Fazaal; Julia Kraft; Julia Schroeder; Kari Risnes; Karina Banasik; Karl Erik Mueller; Karoline I Gaede; Koldo Garcia-Etxebarria; Kristian Tonby; Lars Heggelund; Laura Izquierdo-Sanchez; Laura Rachele Bettini; Lauro Sumoy; Leif Erik Sander; Lena J Lippert; Leonardo Terranova; Lindokuhle Nkambule; Lisa Knopp; Lise Tuset Gustad; Lucia Garbarino; Luigi Santoro; Luis Tellez; Luisa Roade; Mahnoosh Ostadreza; Maider Intxausti; Manolis Kogevinas; Mar Riveiro-Barciela; Marco Schaefer; Mari EK Niemi; Maria A Gutierrez-Stampa; Maria Carrabba; Maria E Figuera Basso; Maria Grazia Valsecchi; Maria Hernandez-Tejero; Maria JGT Vehreschild; Maria Manunta; Marialbert Acosta-Herrera; Mariella D'Angio; Marina Baldini; Marina Cazzaniga; Marit M Grimsrud; Markus Cornberg; Markus M Noethen; Marta Marquie; Massimo Castoldi; Mattia Cordioli; Maurizio Cecconi; Mauro D'Amato; Max Augustin; Melissa Tomasi; Merce Boada; Michael Dreher; Michael J Seilmaier; Michael Joannidis; Michael Wittig; Michela Mazzocco; Michele Ciccarelli; Miguel Rodriguez-Gandia; Monica Bocciolone; Monica Miozzo; Natale Imaz-Ayo; Natalia Blay; Natalia Chueca; Nicola Montano; Nicole Braun; Nicole Ludwig; Nikolaus Marx; Nilda Martinez; Oliver A Cornely; Oliver Witzke; Orazio Palmieri; Paola Faverio; Paoletta Preatoni; Paolo Bonfanti; Paolo Omodei; Paolo Tentorio; Pedro Castro; Pedro M Rodrigues; Pedro Pablo Espana; Per Hoffmann; Philip Rosenstiel; Philipp Schommers; Phillip Suwalski; Raul de Pablo; Ricard Ferrer; Robert Bals; Roberta Gualtierotti; Rocio Gallego-Duran; Rosa Nieto; Rossana Carpani; Ruben Morilla; Salvatore Badalamenti; Sammra Haider; Sandra Ciesek; Sandra May; Sara Bombace; Sara Marsal; Sara Pigazzini; Sebastian Klein; Serena Pelusi; Sibylle Wilfling; Silvano Bosari; Sonja Volland; Soren Brunak; Soumya Raychaudhuri; Stefan Schreiber; Stefanie Heilmann-Heimbach; Stefano Aliberti; Stephan Ripke; Susanne Dudman; Tanja Wesse; Tenghao Zheng; Thomas Bahmer; Thomas Eggermann; Thomas Illig; Thorsten Brenner; Tomas Pumarola; Torsten Feldt; Trine Folseraas; Trinidad Gonzalez Cejudo; Ulf Landmesser; Ulrike Protzer; Ute Hehr; Valeria Rimoldi; Valter Monzani; Vegard Skogen; Verena Keitel; Verena Kopfnagel; Vicente Friaza; Victor Andrade; Victor Moreno; Wolfgang Albrecht; Wolfgang Peter; Wolfgang Poller; Xavier Farre; Xiaoli Yi; Xiaomin Wang; Yascha Khodamoradi; Zehra Karadeniz; Anna Latiano; Siegfried Goerg; Petra Bacher; Philipp Koehler; Florian Tran; Heinz Zoller; Eva C Schulte; Bettina Heidecker; Kerstin U Ludwig; Javier Fernandez; Manuel Romero-Gomez; Agustin Albillos; Pietro Invernizzi; Maria Buti; Stefano Duga; Luis Bujanda; Johannes R Hov; Tobias L Lenz; Rosanna Asselta; Rafael de Cid; Luca Valenti; Tom Hemming Karlsen; Mario Caceres; Andre Franke; - COVICAT study group; - Covid-19 Aachen Study (COVAS); - Pa COVID-19 Study Group; - The Humanitas COVID-19 Task Force; - The Humanitas Gavazzeni COVID-19 Task Force; - Norwegian SARS-CoV-2 Study group.
Preprint in English | medRxiv | ID: ppmedrxiv-21260624

ABSTRACT

Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe an extended GWAS meta-analysis of a well-characterized cohort of 3,260 COVID-19 patients with respiratory failure and 12,483 population controls from Italy, Spain, Norway and Germany/Austria, including stratified analyses based on age, sex and disease severity, as well as targeted analyses of chromosome Y haplotypes, the human leukocyte antigen (HLA) region and the SARS-CoV-2 peptidome. By inversion imputation, we traced a reported association at 17q21.31 to a highly pleiotropic [~]0.9-Mb inversion polymorphism and characterized the potential effects of the inversion in detail. Our data, together with the 5th release of summary statistics from the COVID-19 Host Genetics Initiative, also identified a new locus at 19q13.33, including NAPSA, a gene which is expressed primarily in alveolar cells responsible for gas exchange in the lung.

16.
Medicine (Baltimore) ; 100(3): e24139, 2021 Jan 22.
Article in English | MEDLINE | ID: mdl-33546027

ABSTRACT

ABSTRACT: To evaluate the efficacy and safety of plasma rich in growth factors (PRGF) in photorefractive keratectomy (PRK) versus Mitomycin C (MMC).This is a comparative, longitudinal and retrospective case-control study (MMC vs PRGF), in patients with a spherical correction from -0.25 to -8.00 D and cylinder correction from -0.25 to -3.00. The uncorrected distance visual acuity (UDVA), refractive efficacy and safety indices, and changes in endothelial cell density were evaluated. The predictability was assessed with the postoperative manifest spherical equivalent.Forty-four patients (72 eyes) were treated with MMC and twenty-five patients (45 eyes) with PRGF. The final UDVA (LogMar) in MMC was 0.029 ±â€Š0.065 and in PRGF it was 0.028 ±â€Š0.048 (p = 0.383). The efficacy index for MMC was 0.98 ±â€Š0.10 and 1.10 ±â€Š0.46 for patients treated with PRGF (p = 0.062). The safety index for MMC was 1.03 ±â€Š0.11 and 1.12 ±â€Š0.46 (p = 0.158) for PRGF group. The change percentage of endothelial cell density was 0.9 ±â€Š11.6 for MMC and 4.3 ±â€Š13.1 for PRGF (p = 0.593). The predictability for MMC was 92.1% and for the PRGF was 91.9% (p = 0.976). Hyperemia, eye pain and superficial keratitis were observed in 11.1% of the MMC group; no adverse events were observed with the PRGF.The use of PRGF in PRK surgery is as effective as MMC. The PRGF shows a better safety profile than MMC for its intraoperative use in PRK.


Subject(s)
Blood Transfusion, Autologous/methods , Corneal Opacity/prevention & control , Intercellular Signaling Peptides and Proteins/administration & dosage , Photorefractive Keratectomy , Postoperative Complications/prevention & control , Adult , Aged , Antibiotics, Antineoplastic/therapeutic use , Female , Humans , Longitudinal Studies , Male , Middle Aged , Mitomycin/therapeutic use , Ophthalmic Solutions , Retrospective Studies , Young Adult
17.
Sensors (Basel) ; 20(23)2020 Dec 03.
Article in English | MEDLINE | ID: mdl-33287222

ABSTRACT

Understanding naturalistic driving in complex scenarios is an important step towards autonomous driving, and several approaches have been adopted for modeling driver's behaviors. This paper presents the methodology known as "Think Aloud Protocol" to model driving. This methodology is a data-gathering technique in which drivers are asked to verbalize their thoughts as they are driving which are then recorded, and the ensuing analysis of the audios and videos permits to derive driving rules. The goal of this paper is to show how think aloud methodology is applied in the naturalistic driving area, and to demonstrate the validity of the proposed approach to derive driving rules. The paper presents, firstly, the background of the think aloud methodology and then presents the application of this methodology to driving in roundabouts. The general deployment of this methodology consists of several stages: driver preparation, data collection, audio and video processing, generation of coded transcript files, and the generation of driving rules. The main finding of this study is that think aloud protocol can be applied to naturalistic driving, and even some potential limitations as discussed in the paper, the presented methodology is a relatively easy approach to derive driving rules.

18.
J Dairy Sci ; 103(12): 11605-11617, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33069406

ABSTRACT

Morphological traits are of great importance to dairy goat production given their effect on phenotypes of economic interest. However, their underlying genomic architecture has not yet been extensively characterized. Herein, we aimed to identify genomic regions associated with body, udder, and leg conformation traits recorded in 825 Murciano-Granadina goats. We genotyped this resource population using the GoatSNP50 BeadChip (Illumina Inc., San Diego, CA) and performed genome-wide association analyses using the GEMMA software. We found 2 genome-wide significant associations between markers rs268273468 [Capra hircus (CHI) 16:69617700] and rs268249346 (CHI 28:18321523) and medial suspensory ligament. In contrast, we did not detect any genome-wide significant associations for body and leg traits. Moreover, we found 12, 19, and 7 chromosome-wide significant associations for udder, body, and leg traits, respectively. Comparison of our data with previous studies revealed a low level of positional concordance between regions associated with morphological traits. In addition to technical factors, this lack of concordance could be due to a substantial level of genetic heterogeneity among breeds or to the strong polygenic background of morphological traits, which makes it difficult to detect genetic factors that have small phenotypic effects.


Subject(s)
Genome-Wide Association Study/veterinary , Goats/genetics , Mammary Glands, Animal/anatomy & histology , Animals , Body Weights and Measures/veterinary , Extremities/anatomy & histology , Female , Genotype , Goats/anatomy & histology , Phenotype , Polymorphism, Single Nucleotide
19.
Animals (Basel) ; 10(10)2020 Oct 10.
Article in English | MEDLINE | ID: mdl-33050522

ABSTRACT

Considering casein haplotype variants rather than SNPs may maximize the understanding of heritable mechanisms and their implication on the expression of functional traits related to milk production. Effects of casein complex haplotypes on milk yield, milk composition, and curve shape parameters were used using a Bayesian inference for ANOVA. We identified 48 single nucleotide polymorphisms (SNPs) present in the casein complex of 159 unrelated individuals of diverse ancestry, which were organized into 86 haplotypes. The Ali and Schaeffer model was chosen as the best fitting model for milk yield (Kg), protein, fat, dry matter, and lactose (%), while parabolic yield-density was chosen as the best fitting model for somatic cells count (SCC × 103 sc/mL). Peak and persistence for all traits were computed respectively. Statistically significant differences (p < 0.05) were found for milk yield and components. However, no significant difference was found for any curve shape parameter except for protein percentage peak. Those haplotypes for which higher milk yields were reported were the ones that had higher percentages for protein, fat, dry matter, and lactose, while the opposite trend was described by somatic cells counts. Conclusively, casein complex haplotypes can be considered in selection strategies for economically important traits in dairy goats.

20.
AoB Plants ; 12(5): plaa041, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32968476

ABSTRACT

Seed priming is widely used in commercial seeds and its main function is to accelerate and synchronize seed germination. Undesirably, primed seeds show reduced longevity and treatments like heat shock have been shown to improve longevity in primed seeds. Nonetheless, the effect of heat shock treatment on primed seeds at the mRNA level is not known. Thus, the aim of this work was to investigate the effect of heat shock treatment on the longevity of primed tomato (Solanum lycopersicum) seeds at the physiological and transcriptome levels. Tomato seeds were primed and dried (control). Alternatively, primed seeds were subjected to heat shock treatment (38 °C/32 % relative humidity) before drying. Germination, vigor and longevity were evaluated. Transcriptome analysis was performed by RNA sequencing (RNA-seq) from biological samples collected immediately after priming and another samples collected from primed seeds followed by the heat shock treatments. The gene expression was validated by quantitative real time PCR (RT-qPCR). We showed that applying heat shock treatment after priming increased germination speed, enhanced seed longevity and preserved the vigor during storage of primed tomato seeds. Through transcriptome analysis, 368 differentially expressed genes were identified, from which 298 genes were up-regulated and 70 were down-regulated. We showed the increase of mRNA levels of HEAT SHOCK FACTOR-like and HEAT SHOCK PROTEIN-like chaperone genes, suggesting the involvement of the proteins coded by these transcripts in the enhancement of longevity in primed tomato seeds. The heat shock treatment after priming enhances and preserves the vigor of tomato primed seeds during storage. In addition, improves seed longevity through the increase in the expression of transcripts related to protection by response to stress.

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