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JOURNAL ARTICLE
Natalia Maldonado, Inmaculada López-Hernández, Luis Eduardo López-Cortés, Pedro María Martínez Pérez-Crespo, Pilar Retamar-Gentil, Andrea García-Montaner, Sandra De la Rosa Riestra, Adrián Sousa-Domínguez, Josune Goikoetxea, Ángeles Pulido-Navazo, María Del Valle Ortíz, Clara Natera-Kindelán, Alfredo Jover-Sáenz, Alfonso Del Arco-Jiménez, Carlos Armiñanzas-Castillo, Ana Isabel Aller-García, Jonathan Fernández-Suárez, Teresa Marrodán-Ciordia, Lucía Boix-Palop, Alejandro Smithson-Amat, José Ma Reguera-Iglesias, Fátima Galán-Sánchez, Alberto Bahamonde, Juan Manuel Sánchez Calvo, Isabel Gea-Lázaro, Inés Pérez-Camacho, Armando Reyes-Bertos, Berta Becerril-Carral, Álvaro Pascual, Jesús Rodríguez-Baño
OBJECTIVES: This study aimed to determine the association of E. coli microbiological factors with 30-day mortality in BSI patients presenting with a dysregulated response to infection (i.e., sepsis or septic shock). METHODS: Whole genome sequencing was performed on 224 E. coli isolates of patients with sepsis/septic shock, from 22 Spanish hospitals. Phylogroup, sequence type, virulence, antibiotic resistance and pathogenicity islands were assessed. A multivariable model for 30-day mortality including clinical and epidemiological variables was built, to which microbiological variables were hierarchically added...
April 8, 2024: Clinical Microbiology and Infection
#2
JOURNAL ARTICLE
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera de Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noémi Dahan-Oliel
No abstract text is available yet for this article.
April 9, 2024: Developmental Medicine and Child Neurology
#3
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Tanya Stojkovic, Luciano Merlini, Giacomo Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Taurina, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia H S Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Bertini, Francesco Muntoni, Carsten G Bönnemann
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle weakness, joint contractures and respiratory insufficiency, to Bethlem muscular dystrophy, with milder symptoms typically recognised later and at times resembling a limb girdle muscular dystrophy, and intermediate phenotypes falling between UCMD and Bethlem muscular dystrophy...
March 29, 2024: medRxiv
#4
JOURNAL ARTICLE
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera de Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noémi Dahan-Oliel
No abstract text is available yet for this article.
April 6, 2024: Developmental Medicine and Child Neurology
#5
JOURNAL ARTICLE
Natalia Maldonado, Inmaculada López-Hernández, Andrea García-Montaner, Luis Eduardo López-Cortés, Pedro María Martínez Pérez-Crespo, Pilar Retamar-Gentil, Adrián Sousa-Domínguez, Josune Goikoetxea, Ángeles Pulido-Navazo, Cristina Labayru-Echeverría, Clara Natera-Kindelán, Alfredo Jover-Sáenz, Alfonso Del Arco-Jiménez, Carlos Armiñanzas-Castillo, Ana Isabel Aller, Jonathan Fernández-Suárez, Teresa Marrodán-Ciordia, Lucía Boix-Palop, Alejandro Smithson-Amat, José Mª Reguera-Iglesias, Fátima Galán-Sánchez, Alberto Bahamonde, Juan Manuel Sánchez Calvo, Isabel Gea-Lázaro, Inés Pérez-Camacho, Armando Reyes-Bertos, Berta Becerril-Carral, Jesús Rodríguez-Baño, Álvaro Pascual
BACKGROUND: Escherichia coli is the most frequent cause of bloodstream infections (BSIs). About one-third of patients with BSIs due to E coli develop sepsis or shock. The objective of this study is to characterise the microbiological features of E coli blood isolates causing sepsis or septic shock to provide exploratory information for future diagnostic, preventive, or therapeutic interventions. METHODS: E coli blood isolates from a multicentre cross-sectional study of patients older than 14 years presenting with sepsis or septic shock (according to the Third International Consensus Definitions for Sepsis and Septic Shock criteria) from hospitals in Spain between Oct 4, 2016, and Oct 15, 2017, were studied by whole-genome sequencing...
March 25, 2024: The Lancet. Microbe
#6
JOURNAL ARTICLE
Philip F Halloran, Jeff Reeve, Martina Mackova, Katelynn S Madill-Thomsen, Zachary Demko, Michael Olymbios, Patrick Campbell, Vojtech Melenovsky, Timothy Gong, Shelley Hall, Josef Stehlik
BACKGROUND: Plasma donor-derived cell-free DNA (dd-cfDNA) is used to screen for rejection in heart transplants. We launched the Trifecta-Heart study (ClinicalTrials.gov No. NCT04707872), an investigator-initiated, prospective trial, to examine the correlations between genome-wide molecular changes in endomyocardial biopsies (EMBs) and plasma dd-cfDNA. The present report analyzes the correlation of plasma dd-cfDNA with gene expression in EMBs from 4 vanguard centers and compared these correlations with those in 604 kidney transplant biopsies in the Trifecta-Kidney study (ClinicalTrials...
March 28, 2024: Transplantation
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JOURNAL ARTICLE
Zoi Koukou, Eleftherios Panteris, Emmanouel Manolakos, Aristeidis Papadopoulos, Ioannis Papoulidis, Konstantinos Relakis, Stavros Sifakis
Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption...
April 2024: Biomedical Reports
#8
JOURNAL ARTICLE
Shahrzad Nematollahi, Klaus Dieterich, Isabel Filges, Johanna I P De Vries, Harold Van Bosse, Daniel Natera-De Benito, Judith G Hall, Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan, Coleman Hilton, Noémi Dahan-Oliel
AIM: To facilitate multisite studies and international clinical research, this study aimed to identify consensus-based, standardized common data elements (CDEs) for arthrogryposis multiplex congenita (AMC). METHOD: A mixed-methods study comprising of several focus group discussions and three rounds of modified Delphi surveys to achieve consensus using two tiered-rating scales were conducted. RESULTS: Overall, 45 clinical experts and adults with lived experience (including 12 members of an AMC consortium) participated in this study from 11 countries in North America, Europe, and Australia...
March 16, 2024: Developmental Medicine and Child Neurology
#9
JOURNAL ARTICLE
Berta Estévez-Arias, Leslie Matalonga, Loreto Martorell, Anna Codina, Carlos Ortez, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Janet Hoenicka, Cristina Jou, Francesc Palau, Sergi Beltran, Hanns Lochmüller, Ana Töpf, Andrés Nascimento, Daniel Natera-de Benito
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven analysis of the genomic data, that led to the molecular diagnosis in a child with CM. We identified a heterozygous variant in RYR1 in the affected child, inherited from her asymptomatic mother. Given the alignment of the clinical and histopathological phenotype with RYR1-CM, we considered the potential existence of a missing second variant in trans in the proband, but also hypothesized that the variant might be mosaic in the mother, as subsequently demonstrated...
March 10, 2024: Journal of Neuromuscular Diseases
#10
JOURNAL ARTICLE
Peter Anderson, Tim Stockwell, Guillermina Natera, Eileen Kaner
No abstract text is available yet for this article.
March 12, 2024: BMJ: British Medical Journal
#11
JOURNAL ARTICLE
Aaron C Tan, Gillianne G Y Lai, Stephanie P L Saw, Kevin L M Chua, Angela Takano, Boon-Hean Ong, Tina P T Koh, Amit Jain, Wan Ling Tan, Quan Sing Ng, Ravindran Kanesvaran, Tanujaa Rajasekaran, Ekaterina Kalashnikova, Derrick Renner, Sumedha Sudhaman, Meenakshi Malhotra, Himanshu Sethi, Minetta C Liu, Alexey Aleshin, Wan-Teck Lim, Eng-Huat Tan, Anders J Skanderup, Mei-Kim Ang, Daniel S W Tan
BACKGROUND: In early-stage non-small cell lung cancer (NSCLC), recurrence is frequently observed. Circulating tumor DNA (ctDNA) has emerged as a noninvasive tool to risk stratify patients for recurrence after curative intent therapy. This study aimed to risk stratify patients with early-stage NSCLC via a personalized, tumor-informed multiplex polymerase chain reaction (mPCR) next-generation sequencing assay. METHODS: This retrospective cohort study included patients with stage I-III NSCLC...
February 29, 2024: Cancer
#12
REVIEW
Elena Natera-Villalba, María-Agustina Ruiz-Yanzi, Carmen Gasca-Salas, Michele Matarazzo, Raúl Martínez-Fernández
The development of MR-guided focused ultrasound (MRgFUS) has provided a new therapeutic tool for neuropsychiatric disorders. In contrast to previously available neurosurgical techniques, MRgFUS allows precise impact on deep brain structures without the need for incision and yields an immediate effect. In its high-intensity modality (MRgHIFU), it produces accurate therapeutic thermoablation in previously selected brain targets. Importantly, the production of the lesion is progressive and highly controlled in real-time by both neuroimaging and clinical means...
February 12, 2024: Parkinsonism & related Disorders
#13
REVIEW
Alexander Katalinic, Maria R Noftz, Juan A Garcia-Velasco, Lee P Shulman, John N van den Anker, Jerome F Strauss Iii
STUDY QUESTION: Is exposure to dydrogesterone a risk factor for congenital anomalies when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in assisted reproductive technology (ART)? SUMMARY ANSWER: Dydrogesterone, when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in ART, is not a relevant additional risk factor for congenital anomalies. WHAT IS KNOWN ALREADY: Despite large clinical trials and meta-analyses that show no association between dydrogesterone and congenital anomalies, some recently retracted publications have postulated an association with teratogenicity...
2024: Human Reproduction Open
#14
JOURNAL ARTICLE
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro J Moreno-Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease. We treated two of these patients with oral Coenzyme Q10 (CoQ10 ), which resulted in neurological improvements, although MRI abnormalities remained. Whole Exome Sequencing demonstrated compound heterozygosity at the GEMIN5 gene in both cases: Case one: p.Lys742* and p.Arg1016Cys; Case two: p...
February 5, 2024: European Journal of Human Genetics: EJHG
#15
JOURNAL ARTICLE
Lucely Cetina-Pérez, Julissa Luvián-Morales, Merari Delgadillo-González, Denisse Castro-Eguiluz, Tatiana Galicia-Carmona, Kely Rely, Rita Vaca González, Gabriela Lugo-Martínez, Nadia García-Barrientos, Antonio Nateras
BACKGROUND: In 2020, the highest incidence and mortality from cervical cancer (CC) were detected in low and middle-income countries. CC remains a health problem for women living in them. In Mexico, CC ranks second in cancer incidence and mortality in women. The main characteristics of this population are low income, low educational level, and inadequate medical coverage. The present study characterized the Mexican population by CC, and the sociodemographic variables that impacted overall survival (OS) were identified...
February 1, 2024: BMC Cancer
#16
JOURNAL ARTICLE
Alex O Natera, Dale W Chapman, Neil D Chapman, Justin W L Keogh
BACKGROUND: The repeat power ability (RPA) assessment is used to test the ability to repeatedly produce maximal ballistic efforts with an external load. The underpinning physical qualities influencing RPA are undetermined. This study aimed to gain further insight into the physical qualities that determine RPA by analysing the association between physical qualities and an assessment of RPA. MATERIALS AND METHODS: Ten well-trained male field hockey players performed an RPA assessment consisting of 20 repetitions of loaded countermovement jumps (LCMJ20), with a percent decrement score of peak power output calculated...
2024: PeerJ
#17
REVIEW
Fernanda Jimena Hernández-Pinto, Juan Daniel Miranda-Medina, Abril Natera-Maldonado, Óscar Vara-Aldama, Mary Pily Ortueta-Cabranes, Jorge A Vázquez Del Mercado-Pardiño, Safaa A M El-Aidie, Shahida Anusha Siddiqui, Roberto Castro-Muñoz
Arabinoxylans (AXs) are compounds with high nutritional value and applicability, including prebiotics or supplementary ingredients, in food manufacturing industries. Unfortunately, the recovery of AXs may require advanced separation and integrated strategies. Here, an analysis of the emerging techniques to extract AXs from cereals and their by-products is discussed. This review covers distinct methods implemented over the last 2-3 years, identifying that the type of method, extraction source, AX physicochemical properties and pre-treatment conditions are the main factors influencing the recovery yield...
January 10, 2024: International Journal of Biological Macromolecules
#18
JOURNAL ARTICLE
Hugo Noel Valdivia Ramos, Jazmín Mora-Rios, Guillermina Natera, Liliana Mondragón
BACKGROUND: Healthcare providers are one of the main groups that contribute to the stigmatization of people with mental disorders. Apathy, accusation, fatalism, and morbid curiosity are the most common forms of stigmatization encountered, and these are associated with inadequate treatment, reduced treatment adherence, decreased help-seeking behavior, an increased risk of relapse, and complications with other medical conditions. The aim of this study was to examine the psychometric properties of an adapted Spanish version of the Opening Minds Stigma Scale (OMS-HC) for healthcare providers in Mexico and identify certain stigmatizing attitudes within this group...
2023: PeerJ
#19
JOURNAL ARTICLE
Lindsey Rosman, Anthony J Mazzella, Xiangmei Gu, Carola Alfaro Vives, David Lanctin, Ana C Natera, Anil Gehi, Rachel Lampert
BACKGROUND: Remote monitoring (RM) is recommended for patients with cardiovascular implantable electronic devices, yet many individuals, especially those living in underserved communities, fail to receive this guideline-directed care. Multilevel interventions that target patient and clinic-level barriers to RM care may be beneficial. OBJECTIVES: This study sought to evaluate a remotely delivered, patient-centered intervention to improve RM activation and adherence and reduce disparities in RM care...
November 13, 2023: JACC. Clinical Electrophysiology
#20
JOURNAL ARTICLE
Julieta Sacchetto, Eduardo Gutierrez, Guillermo F Reta, Eduardo Gatica, Sandra Miskoski, María P Montaña, José Natera, Walter A Massad
Flavin mononucleotide (FMN) is a dye belonging to the flavin family. These dyes produce photosensitized degradation of organic compounds via reaction with the excited states of the dye or with reactive oxygen species photogenerated from the triplet of the dye. This article presents a new polymeric dye (FMN-CS) composed of the photosensitizer FMN covalently bonded to chitosan polysaccharide (CS). FMN-CS obtained has a molecular weight of 230 × 103 g mol-1 and a deacetylation degree of 74...
October 15, 2023: Photochemical & Photobiological Sciences
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