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JOURNAL ARTICLE
Esperanza Pato-Cour, Lara Borrego-Sanz, Marta Domínguez-Álvaro, Fernando Sánchez-Alonso, Fayna Rodríguez-González, Marta Tejera-Santana, Mar Esteban-Ortega, Isabel García-Lozano, Lucia Martínez-Costa, Samuel González-Ocampo, Maite Sainz-de-la-Maza, Aina Moll-Udina, Zulema Plaza, Alejandro Fonollosa, Joseba Artaraz, Teresa Díaz-Valle, Maria Gurrea-Almela, David Díaz-Valle, Rosalía Méndez-Fernández
INTRODUCTION: This was a multicenter, prospective, longitudinal, observational study involving eight Spanish tertiary hospitals to determine the interobserver reliability of an uveitis disease activity index, (UVEDAI) and assess its sensitivity to change in patients with receiving pharmacologic treatment. METHODS: Patients aged ≥ 18 years diagnosed with active noninfectious uveitis were included. A complete baseline assessment was performed by two ophthalmologists who determined ocular inflammatory activity using the UVEDAI index independently of each other...
April 18, 2024: Ophthalmology and Therapy
#2
JOURNAL ARTICLE
F Camacho-Alonso, M Pérez-Sayáns, J Pato-Mourelo, J-E Martínez-Martínez
BACKGROUND: This study aimed to evaluate the surgical accuracy of a new universal disposable stop system for implant drills (FCA Universal Drill Stop). MATERIAL AND METHODS: A total of 60 bovine ribs were included in this in vitro study. The ribs were randomized into three study groups (n=20 ribs per group). In each study group (Group1: drills without stop or control group, Group 2: prefabricated drills with stop or gold standard group, and Group 3: drills with FCA Universal Drill Stop) a total of 100 osteotomies were performed with implant drills in each group, following the drilling sequence for the placement of a dental implant of 10 mm length and 4 mm diameter...
April 14, 2024: Medicina Oral, Patología Oral y Cirugía Bucal
#3
Carlos González-Cruz, Eva Muñoz-Couselo, Carolina Ortiz-Velez, Berta Ferrer, Vicente García-Patos, Carla Ferrándiz-Pulido
No abstract text is available yet for this article.
April 2024: JAAD Case Reports
#4
Hanwen Zhang, Lilia Peyton, Ada McCarroll, Sol Díaz de León Guerrerro, Siwei Zhang, Prarthana Gowda, David Sirkin, Mahmoud El Achwah, Alexandra Duhe, Whitney G Wood, Brandon Jamison, Gregory Tracy, Rebecca Pollak, Ronald P Hart, Carlos N Pato, Jennifer G Mulle, Alan R Sanders, Zhiping P Pang, Jubao Duan
Translating genetic findings for neurodevelopmental and psychiatric disorders (NPD) into actionable disease biology would benefit from large-scale and unbiased functional studies of NPD genes. Leveraging the cytosine base editing (CBE) system, here we developed a pipeline for clonal loss-of-function (LoF) allele mutagenesis in human induced pluripotent stem cells (hiPSCs) by introducing premature stop-codons (iSTOP) that lead to mRNA nonsense-mediated-decay (NMD) or protein truncation. We tested the pipeline for 23 NPD genes on 3 hiPSC lines and achieved highly reproducible, efficient iSTOP editing in 22 NPD genes...
March 19, 2024: bioRxiv
#5
JOURNAL ARTICLE
Monalisa De Cól, Mauricio Coelho, Emerson Medeiros Del Ponte
Wheat head blast is a major disease of wheat in the Brazilian Cerrado. Empirical models for predicting epidemics were developed using data from field trials conducted in Patos de Minas (2013 to 2019) and trials conducted across 10 other sites (2012 to 2020) in Brazil, resulting in 143 epidemics; each being classified as either outbreak (≥ 20% head blast incidence) or non-outbreak. Daily weather variables were collected from the NASA Power website and summarized for each epidemic. Wheat heading date (WHD) served to define four time windows, each comprising two seven-day intervals (before and after WHD), combined with weather-based variables, resulting in 36 predictors (nine weather variables × four windows)...
March 28, 2024: Plant Disease
#6
JOURNAL ARTICLE
Cezara Zagrean-Tuza, Galaba Pato, Grigore Damian, Radu Silaghi-Dumitrescu, Augustin C Mot
Nonsymbiotic phytoglobins (nsHbs) are a diverse superfamily of hemoproteins grouped into three different classes (1, 2, and 3) based on their sequences. Class 1 Hb are expressed under hypoxia, osmotic stress, and/or nitric oxide exposure, while class 2 Hb are induced by cold stress and cytokinins. Both are mainly six-coordinated. The deoxygenated forms of the class 1 and 2 nsHbs from A. thaliana (AtHb1 and AtHb2) are able to reduce nitrite to nitric oxide via a mechanism analogous to other known globins. NsHbs provide a viable pH-dependent pathway for NO generation during severe hypoxia via nitrite reductase-like activity with higher rate constants compared to mammalian globins...
March 7, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
#7
JOURNAL ARTICLE
James S Heald, Aleix Méndez López, Miguel L Pato, Neus Ruiz-Xiville, Marta Cabezón, Lurdes Zamora, Susana Vives, Rosa Coll Jorda, Clara Maluquer Artigal, Isabel Granada, Francesc Sole, Manel Esteller, María Berdasco
No abstract text is available yet for this article.
March 27, 2024: Blood Advances
#8
Jae Yong Yu, Sejin Heo, Feng Xie, Nan Liu, Sun Yung Yoon, Han Sol Chang, Taerim Kim, Se Uk Lee, Marcus Eng Hock Ong, Yih Yng Ng, Sang Do Shin, Kentaro Kajino, Wen-Chu Chiang, Won Chul Cha
[This corrects the article DOI: 10.1016/j.lanwpc.2023.100733.].
March 2024: The Lancet Regional Health. Western Pacific
#9
JOURNAL ARTICLE
Juan Francisco Mir-Bonafé, Jaime Piquero-Casals, Ludmila Prudkin, Jesus Delgado, Julia Santamaria Martínez, Vicente Garcia-Patos Briones
BACKGROUND: Noninfectious inflammatory dermatoses of the scalp are common, and their symptomsin particular, those affecting appearance, can have a psychological effect that may be disproportionate to their clinical severity. Effective, cosmetically acceptable treatments are important to manage these conditions. Topical corticosteroids form the cornerstone of acute treatment for many of these conditions. We surveyed practicing dermatologists and dermatology residents to determine the current clinical practice in prescribing topical corticosteroids for these disorders in their various preparation formats...
2024: Clinical, Cosmetic and Investigational Dermatology
#10
JOURNAL ARTICLE
Laura Lemons Moreira, Ronan Adler Tavella, Alicia da Silva Bonifácio, Rodrigo de Lima Brum, Livia da Silva Freitas, Niely Galeão da Rosa Moraes, Maria Laura Fiasconaro, Paula Florencio Ramires, Julia Oliveira Penteado, Paulo Roberto Martins Baisch, Flavio Manoel Rodrigues da Silva Júnior
Salt marshes are capable of mitigating metal pollution in coastal environments, yet the efficacy of this remediation is contingent upon various environmental factors and the plant species involved. This study investigates the influence of different anthropogenic activities, including industrial, urban, recreational (in an insular area), and dredging operations, on the bioaccumulation of eight metals (As, Cd, Cr, Cu, Hg, Ni, Pb, and Zn) within Spartina alterniflora Loisel. in the Patos Lagoon estuary, Brazil...
March 8, 2024: Environmental Science and Pollution Research International
#11
Identifying genetic differences between bipolar disorder and major depression through multiple GWAS.
Georgia Panagiotaropoulou, Kajsa-Lotta Georgii Hellberg, Jonathan R I Coleman, Darsol Seok, Janos Kalman, Philip B Mitchell, Peter R Schofield, Andreas J Forstner, Michael Bauer, Laura J Scott, Carlos N Pato, Michele T Pato, Qingqin S Li, George Kirov, Mikael Landén, Lina Jonsson, Bertram Müller-Myhsok, Jordan W Smoller, Elisabeth B Binder, Tanja M Brückl, Darina Czamara, Sandra Van der Auwera, Hans J Grabe, Georg Homuth, Carsten O Schmidt, James B Potash, Raymond J DePaulo, Fernando S Goes, Dean F MacKinnon, Francis M Mondimore, Myrna M Weissman, Jianxin Shi, Mark A Frye, Joanna M Biernacka, Andreas Reif, Stephanie H Witt, René R Kahn, Marco M Boks, Michael J Owen, Katherine Gordon-Smith, Brittany L Mitchell, Nicholas G Martin, Sarah E Medland, Lisa Jones, James A Knowles, Douglas F Levinson, Michael C O'Donovan, Cathryn M Lewis, Gerome Breen, Thomas Werge, Andrew J Schork, Roel Ophoff, Stephan Ripke, Loes Olde Loohuis
BACKGROUND: Accurate diagnosis of bipolar disorder (BD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A key reason is that the first manic episode is often preceded by a depressive one, making it difficult to distinguish BD from unipolar major depressive disorder (MDD). AIMS: Here, we use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores that may aid early differential diagnosis...
January 30, 2024: medRxiv
#12
Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin S O 'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole A Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne Bengesser, Joanna Biernacka, Michael Boehnke, Rosa Bosch, Murray Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, José Guzman-Parra, Tim Hahn, Frans Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian Jones, Lina Jonsson, John R Kelsoe, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Manolis Kogevinas, Mikael Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral, Susan L McElroy, Nathaniel W McGregor, Andrew McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard Myers, Igor Nenadić, Markus M Nöthen, Claire O'Donovan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Chris Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribasés, Marcella Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Maria Soler Artigas, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD...
February 13, 2024: medRxiv
#13
JOURNAL ARTICLE
Eduardo Pato, Victor Srougi, Claudia Zerbini, Felipe L Ledesma, Fabio Tanno, Madson Q Almeida, William Nahas, Ana Claudia Latronico, Berenice B Mendonca, Jose L Chambô, Maria Candida B V Fragoso
Adrenocortical carcinoma (ACC) is a rare and lethal disease with a poor prognosis. This study aims to share our 41-year experience as a referral center, focusing on identifying risk factors associated with ACC mortality. Our retrospective analysis included a cohort of 150 adult patients with ACC in all stage categories, treated between 1981 and 2022. Tumor hormonal hypersecretion was observed in 78.6% of the patients, and the median age of diagnosis was 40 years. The majority presented as European Network for the Study of Adrenal Tumors (ENSAT) III or IV (22...
February 19, 2024: Journal of the Endocrine Society
#14
JOURNAL ARTICLE
Asier Fernández-Pato, Trishla Sinha, Ranko Gacesa, Sergio Andreu-Sánchez, Milla F Brandao Gois, Jody Gelderloos-Arends, Dianne B H Jansen, Marloes Kruk, Martin Jaeger, Leo A B Joosten, Mihai G Netea, Rinse K Weersma, Cisca Wijmenga, Hermie J M Harmsen, Jingyuan Fu, Alexandra Zhernakova, Alexander Kurilshikov
The lack of standardization in the methods of DNA extraction from fecal samples represents the major source of experimental variation in the microbiome research field. In this study, we aimed to compare the metagenomic profiles and microbiome-phenotype associations obtained by applying two commercially available DNA extraction kits: the AllPrep DNA/RNA Mini Kit (APK) and the QIAamp Fast DNA Stool Mini Kit (FSK). Using metagenomic sequencing data available from 745 paired fecal samples from two independent population cohorts, Lifelines-DEEP (LLD, n = 292) and the 500 Functional Genomics project (500FG, n = 453), we confirmed significant differences in DNA yield and the recovered microbial communities between protocols, with the APK method resulting in a higher DNA concentration and microbial diversity...
February 16, 2024: Scientific Reports
#15
JOURNAL ARTICLE
Andresa Fernandes, Nuno Pinto, Ana Rita Tuna, Francisco Miguel Brardo, Maria Vaz Pato
INTRODUCTION: Amblyopia is generally a unilateral disorder, defined by at least a difference of two lines of visual acuity between both eyes with the best-corrected visual acuity, a decrease in contrast sensitivity, and a decrease in stereopsis. Pattern electroretinogram (PERG) is a noninvasive technique that provides a retinal biopotential and is a highly sensitive indicator of changes in the macular area. Our aim was to evaluate if there are differences in the retinal response of an amblyopic eye compared with a normal eye (NE)...
February 16, 2024: International Ophthalmology
#16
JOURNAL ARTICLE
Giulio Genovese, Nicole B Rockweiler, Bryan R Gorman, Tim B Bigdeli, Michelle T Pato, Carlos N Pato, Kiku Ichihara, Steven A McCarroll
MOTIVATION: Many genetics studies report results tied to genomic coordinates of a legacy genome assembly. However, as assemblies are updated and improved, researchers are faced with either realigning raw sequence data using the updated coordinate system or converting legacy datasets to the updated coordinate system to be able to combine results with newer datasets. Currently available tools to perform the conversion of genetic variants have numerous shortcomings, including poor support for indels and multi-allelic variants, that lead to a higher rate of variants being dropped or incorrectly converted...
January 23, 2024: Bioinformatics
#17
JOURNAL ARTICLE
M Sánchez-Díaz, Á Flórez, M Ara-Martín, S Arias-Santiago, R Botella-Estrada, J Cañueto, G Carretero-Hernández, P Coto-Segura, E de Eusebio-Murillo, F J García-Latasa de Araníbar, V García-Patos Briones, J Gardeazabal García, C Gómez-Fernández, S Hernández-Ostiz, R Izu Belloso, A López-Ávila, P Manchado López, A Martín-Santiago, I Martinez De Espronceda Ezquerro, A Mateu-Puchades, P Mercader-García, J Notario Rosa, L Palacio Aller, C Pérez-Hortet, L Quintana-Castanedo, R Rivera, V Rocamora Duran, I M Rodríguez-Nevado, R Ruiz-Villaverde, J Suárez, L Trasobares-Marugán, C Vizán-de Uña, I Yanguas, A Zulaica-Garate, I García-Doval, M Á Descalzo, M Grau-Pérez, J M Carrascosa-Carrillo
BACKGROUND AND OBJECTIVE: Although the Spanish Ministry of Health prepares national therapeutic positioning reports (TPRs) and drug reimbursement policies, each of the country's 17 autonomous communities is responsible for health care services and prescription requirements in its territory. The aim of the EQUIDAD study was to describe and explore potential differences in prescription requirements for new dermatology drugs across the autonomous communities. MATERIAL AND METHODS: Cross-sectional study conducted in April and May, 2023...
January 17, 2024: Actas Dermo-sifiliográficas
#18
JOURNAL ARTICLE
Catarina Jota Baptista, Fernanda Seixas, José M Gonzalo-Orden, Carla Patinha, Pedro Pato, Eduardo Ferreira da Silva, María Casero, Erica Brazio, Ricardo Brandão, Daniela Costa, Teresa L Mateus, Ana C Coelho, Paula A Oliveira
The western-European hedgehog (Erinaceus europaeus) is an insectivore with a wide distribution in Portugal and a potential tool for biomonitoring relevant One Health hazards, including heavy metal(loid)s' pollution. The aim of this study was to positively contribute to the current knowledge about the metal(loid) pollution in Portugal. Forty-six hedgehogs (from rescue centres; with known provenance) were necropsied. Sex, age category and weight were determined. Spines, liver and kidney were collected, and metalloid concentrations were determined by inductively coupled plasma mass spectrophotometry (ICP-MS)...
January 16, 2024: Environmental Science and Pollution Research International
#19
JOURNAL ARTICLE
Maria Ubals, Patricia Nadal-Baron, Maider Arando, Ángel Rivero, Adrià Mendoza, Vicent Descalzo Jorro, Dan Ouchi, Clara Pérez-Mañá, Marlene Álvarez, Andrea Alemany, Yannick Hoyos-Mallecot, Ethan Nunley, Nicole A P Lieberman, Alexander L Greninger, Cristina Galván-Casas, Clara Suñer, Camila G-Beiras, Roger Paredes, Alicia Rodríguez-Gascón, Andrés Canut, Vicente García-Patos, Magí Farré, Michael Marks, Lorenzo Giacani, Martí Vall-Mayans, Oriol Mitjà
BACKGROUND: Management of syphilis, a sexually transmitted infection (STI) with increasing incidence, is challenged by drug shortages, scarcity of randomised trial data, an absence of non-penicillin alternatives for pregnant women with penicillin allergy (other than desensitisation), extended parenteral administration for neurosyphilis and congenital syphilis, and macrolide resistance. Linezolid was shown to be active against Treponema pallidum, the causative agent of syphilis, in vitro and in the rabbit model...
January 8, 2024: Lancet Infectious Diseases
#20
JOURNAL ARTICLE
Laia Clavero-Rovira, Álvaro Gómez-Tomás, Patricia Bassas-Freixas, Domingo Bodet, Berta Ferrer, Javier Hernández-Losa, Eva Muñoz-Couselo, Assumpció Pérez-Benavente, Vicente García-Patos, Carla Ferrándiz-Pulido
Mucosal melanoma (MM) is an uncommon melanoma subtype affecting mucosal surfaces of the head and neck, anorectal region, and vulvovaginal area. We aimed to present our experience at a tertiary-level hospital regarding MM diagnosis, management, monitoring of progression, mutations, and outcome predictors. We performed a registry-based cohort study including MM cases diagnosed from 2012 to 2022 and retrospectively characterized somatic mutations on BRAF , NRAS and c-KIT. We employed Kaplan-Meier curves, log-rank tests, and Cox regression analysis to explore prognostic factors and survival outcomes in a cohort of 35 patients, mainly women (63%) with a median age of 70 years...
January 3, 2024: Cancers
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