keyword
https://read.qxmd.com/read/38626355/recessively-inherited-deficiency-of-secreted-wfdc2-he4-causes-nasal-polyposis-and-bronchiectasis
#1
JOURNAL ARTICLE
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Heike Olbrich, Weining Yin, Patrick R Sears, Hong Dang, Amanda J Smith, Achim G Beule, Rim Hjeij, Niels Rutjies, Eric G Haarman, Saskia M Maas, Thomas W Ferkol, Peadar G Noone, Kenneth N Olivier, Diana C Bracht, Pascal Barbry, Laure-Emmanuelle Zaragosi, Morgane Fierville, Sabine Kliesch, Kai Wohlgemuth, Julia König, Sebastian George, Niki T Loges, Agathe Ceppe, Matthew R Markovetz, Hong Luo, Ting Guo, Hoda Rizk, Tarek Eldesoky, Katrin Dahlke, Karsten Boldt, Marius Ueffing, David B Hill, Yuan-Ping Pang, Michael R Knowles, Maimoona A Zariwala, Heymut Omran
RATIONALE: Bronchiectasis is a pathological dilatation of the bronchi in the respiratory airways associated with environmental or genetic causes (e.g., cystic fibrosis, primary ciliary dyskinesia and primary immunodeficiency disorders), but most cases remain idiopathic. OBJECTIVES: To identify novel genetic defects in unsolved cases of bronchiectasis presenting with severe rhinosinusitis, nasal polyposis, and pulmonary Pseudomonas aeruginosa infection. METHODS: DNA was analyzed by next-generation or targeted Sanger sequencing...
April 16, 2024: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/38610092/camera-trap-surveys-of-atlantic-forest-mammals-a-data-set-for-analyses-considering-imperfect-detection-2004-2020
#2
JOURNAL ARTICLE
Ingridi Camboim Franceschi, Rubem Augusto da Paixão Dornas, Isabel Salgueiro Lermen, Artur Vicente Pfeifer Coelho, Ademir Henrique Vilas Boas, Adriano Garcia Chiarello, Adriano Pereira Paglia, Agnis Cristiane de Souza, Alana Rafaela Borsekowsky, Alessandro Rocha, Alex Bager, Alexander Zaidan de Souza, Alexandre Martins Costa Lopes, Aloysio Souza de Moura, Aluane Silva Ferreira, Alvaro García-Olaechea, Ana Cláudia Delciellos, Ana Elisa de Faria Bacellar, Ana Kellen Nogueira Campelo, Ana Maria Oliveira Paschoal, Anderson Claudino Rolim, André Luiz Ferreira da Silva, Andre Monnerat Lanna, André Pereira da Silva, Andresa Guimarães, Ângela Cardoso, Angelica Soligo Cassol, Anna Ludmilla da Costa-Pinto, Ariel Guilherme Santos do Nascimento, Arthur Soares Fernandes, Aryanne Clyvia, Aureo Banhos Dos Santos, Barbara Lima-Silva, Beatriz de Mello Beisiegel, Beatriz Fernandes Lima Luciano, Bernardo de Faria Leopoldo, Bruna Nunes Krobel, Bruno Busnello Kubiak, Bruno Henrique Saranholi, Bruno Senna Correa, Caio Sant Anna Teixeira, Camila Rezende Ayroza, Camila Righetto Cassano, Camilo Benitez-Riveros, Carla Cristina Gestich, Carla Denise Tedesco, Carla Gheler-Costa, Carla Grasiele Zanin Hegel, Carlito da Silva Evangelista Junior, Carlos Eduardo Morando Faria Ferreira, Carlos Eduardo Viveiros Grelle, Carolina Franco Esteves, Caroline da Costa Espinosa, Caroline Leuchtenberger, Catalina Sanchéz-Lalinde, Cauanne Iglesias Campos Machado, Cecilia Andreazzi, Cecília Bueno, Cecilia Cronemberger de Faria, Claudio Novaes, Cynthia Elisa Widmer, Cyntia Cavalcante Santos, Daniel da Silva Ferraz, Daniel Galiano, Daniela Aparecida Savariz Bôlla, Daniela Behs, Daniele Pereira Rodrigues, Danielle Picão de Melo, Déborah Maria Soares Ramos, Denise Lidório de Mattia, Diego Dias Pavei, Diogo Loretto, Douglas da Silva Huning, Douglas de Matos Dias, Éder Ricardo Paetzhold, Elaine Rios, Eleonore Zulnara Freire Setz, Eliana Cazetta, Emanuel Giovani Cafofo Silva, Emanuelle Pasa, Erica Naomi Saito, Erick Francisco Silva de Aguiar, Érika Paula Castro, Ernesto Bastos Viveiros de Castro, Ezequiel Pedó, Fabiane de Aguiar Pereira, Fábio Bolzan, Fábio de Oliveira Roque, Fábio Dias Mazim, Fábio Henrique Comin, Fábio Maffei, Felipe Bortolotto Peters, Felipe Moreli Fantacini, Felipe Pessoa da Silva, Felipe Santana Machado, Felipe Vélez-Garcia, Fernanda Stussi Duarte Lage, Fernando Araújo Perini, Fernando Camargo Passos, Fernando Carvalho, Fernando Cesar Cascelli de Azevedo, Fernando Ferreira, Fernando Ferreira de Pinho, Flávia Guimarães Chaves, Flavia Regina Miranda, Flavio Henrique Guimarães Rodrigues, Flávio Kulaif Ubaid, Francisco Homem Gabriel, Franco Leandro de Souza, Fred Victor de Oliveira, Gabriel Cupolillo, Gabriela de Araújo Pires Moreira, Gabriela Mette, Gabriela Teixeira Duarte, Gabrielle Beca, Gilberto Corso, Gilmar Perbiche-Neves, Glauber Henrique Borges de Oliveira Souto, Glenda Jéssica da Silva Vilarroel, Graziele O Batista, Guilherme Braga Ferreira, Gustavo Alves da Costa Toledo, Gustavo Senger, Helena de Godoy Bergallo, Hellen Cristina Pinheiro Dos Santos, Humberto Angelo Gazola, Isabel Melo, Ismael Verrastro Brack, Iuri Veríssimo, Ivan Réus Viana, Izabela Costa Laurentino, Jaime Luis Diehl, Jairo José Zocche, Jimi Martins-Silva, João Paulo Gava Just, Jorge José Cherem, Jorge Luiz Nascimento, Jorge Reppold Marinho, José Oliveira Dantas, Jose Roberto de Matos, José Salatiel Rodrigues Pires, Josi Fernanda Cerveira, Juan Ruiz-Esparza, Juliana Paulo da Silva, Juliano André Bogoni, Karina Theodoro Molina, Karla Dayane de Lima Pereira, Karoline Ceron, Kristel de Vleeschouwer, Laís Lautenschlager, Larissa Bailey, Larissa Fornitano, Lilian Elaine Rampim, Lorena Sforza, Luan Gonçalves Bissa, Luca Mattos Santucci, Lucas Gonçalves da Silva, Lucas Neves Perillo, Lucas Ribeiro Correa, Ludmila Hufnagel, Luis Fernando Alberti, Luis Jose Recalde Mello, Luis Renato Rezende Bernardo, Luiz Gustavo Rodrigues Oliveira-Santos, Luiza Neves Guimarães, Maíra Benchimol, Manuela Catharina Twardowschy, Marcela Ferreira-Riveros, Marcelo da Silva, Márcia Maria de Assis Jardim, Marco Aurélio Leite Fontes, Marcos Adriano Tortato, Marcos Tadeu do Nascimento, Margareth Lumy Sekiama, Maria Clara Nascimento-Costa, Maria Ester Bueno Dos Santos, Maria Santina de Castro Morini, Mariana Baldy Nagy-Reis, Mariane da Cruz Kaizer, Mariano José Ribeiro da Silva Sant'Anna, Marilia Teresinha Hartmann, Marina Ochoa Favarini, Marina Oliveira Olivo, Martín Alejandro Montes, Martin Roberto Del Valle Alvaréz, Matheus Feldstein Haddad, Maurício Djalles Costa, Maurício Eduardo Graipel, Mauricio Quoos Konzen, Mauro Galetti, Meyline de Oliveira Souza Almeida, Michel Barros Faria, Micheli Ribeiro Luiz, Michelle Noronha da Matta Baptista, Miguel Ângelo Marini, Milton Cezar Ribeiro, Natalie Olifiers, Natasha Moraes de Albuquerque, Nicolás Cantero, Nivaldo Peroni, Noeli Zanella, Olívia Mendonça-Furtado, Olivier Pays, Orlando Ednei Ferretti, Oscar Rocha-Barbosa, Paloma Marques Santos, Patrícia Menegaz de Farias, Patrício Adriano da Rocha, Paul François Colas-Rosas, Paula Ribeiro-Souza, Paula Ferracioli, Paulo Afonso Hartmann, Paulo de Tarso Zuquim Antas, Paulo Ribeiro, Paulo Tomasi Sarti, Paulo Ivo Mônico, Pedro Volkmer de Castilho, Peônia Brito de Moraes Pereira, Peter Gransden Crawshaw, Pierre-Cyril Renaud, Rafael Spilere Romagna, Rafael Turíbio Moraes de Sousa, Raíssa Soares Spagnol, Raone Beltrão-Mendes, Ravi Fernandes Mariano, Renata Reinoso Rocha, Renata Sousa-Lima, Renata Valls Pagotto, Rhayssa Terra de Faria, Ricardo Corassa Arrais, Ricardo Moratelli, Ricardo Sartorello, Rita de Cassia Bianchi, Roberto de Carvalho Guimarães, Rodrigo Lima Massara, Romulo Theodoro Costa, Rosane Vera Marques, Ruan Márcio Ruas Nunes, Sandra Maria Hartz, Saulo Meneses Silvestre de Sousa, Saulo Ramos Lima, Sergio Lutz Barbosa, Silvia Neri Godoy, Stephen Francis Ferrari, Talita Guimarães de Araújo-Piovezan, Talita Laura Góes, Tatiane Campos Trigo, Thales R O de Freitas, Thiago Bernardes Maccarini, Thiago Marcial de Castro, Thiago Ribas Bella, Tonny Marques de Oliveira Junior, Uslaine Maciel Cunha, Vanessa Tavares Kanaan, Vera Pfannerstill, Victor Siqueira Pimentel, Vilmar Picinatto Filho, Vinícius Nunes Alves, Viviana Rojas-Bonzi, Viviane Mottin, Vlamir José Rocha, Andreas Kindel, Igor Pfeifer Coelho
Camera traps became the main observational method of a myriad of species over large areas. Data sets from camera traps can be used to describe the patterns and monitor the occupancy, abundance, and richness of wildlife, essential information for conservation in times of rapid climate and land-cover changes. Habitat loss and poaching are responsible for historical population losses of mammals in the Atlantic Forest biodiversity hotspot, especially for medium to large-sized species. Here we present a data set from camera trap surveys of medium to large-sized native mammals (>1 kg) across the Atlantic Forest...
April 12, 2024: Ecology
https://read.qxmd.com/read/38608195/vena-cava-replacement-and-major-hepatectomy-for-liver-tumors-international-multicenter-retrospective-cohort-study
#3
JOURNAL ARTICLE
Fabrizio Di Benedetto, Paolo Magistri, Francesca Marcon, Olivier Soubrane, Felipe Pedreira Mello, Joao Santos Coelho, Andre Renaldo Fernandez, Samuele Frassoni, Vincenzo Bagnardi, Ashish Singhal, Fernando Rotellar, Roberto Hernandez-Alejandro, Ruslan Alikhanov, Eduardo de Souza M Fernandes, Francois Cauchy, Paolo Muiesan, Stefano Di Sandro, Hugo Pinto Marques
INTRODUCTION: Involvement of the inferior vena cava (IVC) and hepatic veins (HV) has been considered a relative contraindication to hepatic resection for primary and metastatic liver tumors. However, patients affected by tumors extending to the IVC have limited therapeutic options and suffer worsening of quality of life due to IVC compression. METHODS: Cases of primary and metastatic liver tumors with vena cava infiltration from 10 international centers were collected (7 European, 1 US, 2 Brazilian, 1 Indian) were collected...
April 11, 2024: International Journal of Surgery
https://read.qxmd.com/read/38583691/recommendations-of-the-french-society-of-rheumatology-for-the-management-in-current-practice-of-patients-with-polymyalgia-rheumatica
#4
JOURNAL ARTICLE
Daniel Wendling, Omar Al Tabaa, Baptiste Chevet, Olivier Fakih, Roba Ghossan, Sophie Hecquet, Emmanuelle Dernis, Emmanuel Maheu, Alain Saraux, Florent L Besson, Guillermo Carvajal Alegria, Bernard Cortet, Bruno Fautrel, Renaud Felten, Jacques Morel, Sébastien Ottaviani, Solène Querellou-Lefranc, André Ramon, Adeline Ruyssen-Witrand, Raphaèle Seror, Anne Tournadre, Nathan Foulquier, Bernard Verlhac, Frank Verhoeven, Valérie Devauchelle-Pensec
OBJECTIVE: To develop recommendations for the routine management of patients with polymyalgia rheumatica (PMR) Methods: Following standard procedures, a systematic review of the literature by 5 supervised junior rheumatologists, based on the questions selected by the steering committee (5 senior rheumatologists), was used as the basis for working meetings, followed by a one-day plenary meeting with the working group (15 members), leading to the development of the wording and determination of the strength of the recommendations and the level of agreement of the experts...
April 5, 2024: Joint, Bone, Spine: Revue du Rhumatisme
https://read.qxmd.com/read/38581206/dynamics-and-drivers-of-mycorrhizal-fungi-after-glacier-retreat
#5
JOURNAL ARTICLE
Alexis Carteron, Isabel Cantera, Alessia Guerrieri, Silvio Marta, Aurélie Bonin, Roberto Ambrosini, Fabien Anthelme, Roberto Sergio Azzoni, Peter Almond, Pablo Alviz Gazitúa, Sophie Cauvy-Fraunié, Jorge Luis Ceballos Lievano, Pritam Chand, Milap Chand Sharma, John J Clague, Justiniano Alejo Cochachín Rapre, Chiara Compostella, Rolando Cruz Encarnación, Olivier Dangles, Andre Eger, Sergey Erokhin, Andrea Franzetti, Ludovic Gielly, Fabrizio Gili, Mauro Gobbi, Sigmund Hågvar, Norine Khedim, Rosa Isela Meneses, Gwendolyn Peyre, Francesca Pittino, Antoine Rabatel, Nurai Urseitova, Yan Yang, Vitalii Zaginaev, Andrea Zerboni, Anaïs Zimmer, Pierre Taberlet, Guglielmina Adele Diolaiuti, Jerome Poulenard, Wilfried Thuiller, Marco Caccianiga, Gentile Francesco Ficetola
The development of terrestrial ecosystems depends greatly on plant mutualists such as mycorrhizal fungi. The global retreat of glaciers exposes nutrient-poor substrates in extreme environments and provides a unique opportunity to study early successions of mycorrhizal fungi by assessing their dynamics and drivers. We combined environmental DNA metabarcoding and measurements of local conditions to assess the succession of mycorrhizal communities during soil development in 46 glacier forelands around the globe, testing whether dynamics and drivers differ between mycorrhizal types...
April 6, 2024: New Phytologist
https://read.qxmd.com/read/38569880/tp53-associated-early-breast-cancer-new-observations-from-a-large-cohort
#6
JOURNAL ARTICLE
Renata L Sandoval, Michele Bottosso, Li Tianyu, Natalia Polidorio, Brittany L Bychkovsky, Benjamin Verret, Alessandra Gennari, Sophie Cahill, Maria Isabel Achatz, Olivier Caron, Marion Imbert-Bouteille, Catherine Noguès, Kara N Mawell, Cristina Fortuno, Amanda B Spurdle, Nabihah Tayob, Fabrice Andre, Judy E Garber
BACKGROUND: A large well-annotated recent international cohort of Li-Fraumeni (LFS) patients with early-stage breast cancer (BC) was examined for shared features. METHODS: This multicentre cohort study included females with a germline TP53 pathogenic or likely pathogenic variant and nonmetastatic BC diagnosed between 2002-2022. Clinical and genetic data were obtained from institutional registries and clinical charts. Descriptive statistics were utilized to summarize proportions and differences were assessed by Chi square or Wilcoxon rank sum tests...
April 3, 2024: Journal of the National Cancer Institute
https://read.qxmd.com/read/38566334/problem-gambling-in-psychotic-disorders-a-systematic-review-and-meta-analysis-of-prevalence
#7
REVIEW
Olivier Corbeil, Élizabeth Anderson, Laurent Béchard, Charles Desmeules, Maxime Huot-Lavoie, Lauryann Bachand, Sébastien Brodeur, Pierre-Hugues Carmichael, Christian Jacques, Marco Solmi, Isabelle Giroux, Michel Dorval, Marie-France Demers, Marc-André Roy
INTRODUCTION: Problem gambling (PBG) is more common in people with mental health disorders, including substance use, bipolar, and personality disorders, than in the general population. Although individuals with psychotic disorders might be expected to be more vulnerable to PBG, fewer studies have focused on this comorbidity. The aim of this review was to estimate the prevalence of PBG in people with psychotic disorders. METHODS: Medline (Ovid), EMBASE, PsycINFO (Ovid), CINAHL, CENTRAL, Web of science, and ProQuest were searched on November 1, 2023, without language restrictions...
April 2, 2024: Acta Psychiatrica Scandinavica
https://read.qxmd.com/read/38565948/an-ago10-mir165-6-module-regulates-meristem-activity-and-xylem-development-in-the-arabidopsis-root
#8
JOURNAL ARTICLE
Shirin Mirlohi, Gregory Schott, André Imboden, Olivier Voinnet
The RNA-silencing effector ARGONAUTE10 influences cell fate in plant shoot and floral meristems. ARGONAUTE10 also accumulates in the root apical meristem (RAM), yet its function(s) therein remain elusive. Here, we show that ARGONAUTE10 is expressed in the root cell initials where it controls overall RAM activity and length. ARGONAUTE10 is also expressed in the stele, where post-transcriptional regulation confines it to the root tip's pro-vascular region. There, variations in ARGONAUTE10 levels modulate metaxylem-vs-protoxylem specification...
April 2, 2024: EMBO Journal
https://read.qxmd.com/read/38558837/estimating-poultry-aspergillosis-prevalence-and-diagnostic-accuracy-of-histopathological-and-mycological-culture-in-c%C3%A3-te-d-ivoire-using-bayesian-latent-class-analysis
#9
JOURNAL ARTICLE
Alassane Toure, Josepha Ruth Koffi, Olivier Assoi Etchian, Brahima Doukoure, André Offianan Toure, Simon Dufour
This study aimed to estimate the prevalence of poultry aspergillosis and evaluate the accuracy of histopathology (test under evaluation) and mycological culture (an imperfect reference test). Farms raising layer and breeder or broiler birds, with suspected aspergillosis cases, clinical or subclinical, were eligible and visited for sampling. After necropsy, histopathology and mycological culture examinations were conducted by two evaluators. A Bayesian latent class model was used to estimate the accuracy of histopathology when compared to the imperfect reference test, mycological culture...
2024: Mycology
https://read.qxmd.com/read/38541618/the-prognostic-value-of-olfactory-dysfunction-in-patients-with-covid-19-the-covidora-study
#10
JOURNAL ARTICLE
Anne-Laure Hamel, Léo Delbos, Pierre-André Natella, Thomas Radulesco, Mihaela Alexandru, Emmanuel Bartaire, Sophie Bartier, Gonda Benoite, Emilie Bequignon, Laurent Castillo, Florence Canouï-Poitrine, Florent Carsuzaa, Alain Corré, André Coste, Vincent Couloigner, Clémentine Daveau, Paul De Boissieu, Guillaume De Bonnecaze, Ludovic De Gabory, Christian Debry, Simon Deraedt, Xavier Dufour, Wissame El Bakkouri, Laurent Gilain, Stéphane Hans, Charlotte Hautefort, Ruben Hermann, Roger Jankowski, Candice La Croix, Jean-Baptiste Lecanu, Olivier Malard, Justin Michel, Yann Nguyen, Jerome Nevoux, Jean-François Papon, Vincent Patron, Marine Prigent, Virginie Pruliere-Escabasse, Marion Renaud, Cécile Rumeau, Dominique Salmon, Nicolas Saroul, Elie Serrano, Christine Nhung Tran Khai, Stéphane Tringali, Eric Truy, Clair Vandersteen, Benjamin Verillaud, Raphaël Veil, Maxime Fieux
BACKGROUND: Among all studies describing COVID-19 clinical features during the first wave of the pandemic, only a few retrospective studies have assessed the correlation between olfac-tory dysfunction (OD) and the evolution of disease severity. The main aim was to assess whether OD is a predictive factor of COVID-19 severity based on the patient's medical management (outpa-tient care, standard hospital admission, and ICU admission). METHODS: A national, prospective, mul-ticenter cohort study was conducted in 20 public hospitals and a public center for COVID-19 screen-ing...
February 22, 2024: Life
https://read.qxmd.com/read/38532110/the-c-type-lectin-dcir-contributes-to-the-immune-response-and-pathogenesis-of-colorectal-cancer
#11
JOURNAL ARTICLE
Giulia Trimaglio, Tamara Sneperger, Benjamin B A Raymond, Nelly Gilles, Emmanuelle Näser, Marie Locard-Paulet, Marieke E Ijsselsteijn, Thomas P Brouwer, Romain Ecalard, Jessica Roelands, Naoki Matsumoto, André Colom, Myriam Habch, Noel F C C de Miranda, Nathalie Vergnolle, Christel Devaud, Olivier Neyrolles, Yoann Rombouts
Development and progression of malignancies are accompanied and influenced by alterations in the surrounding immune microenvironment. Understanding the cellular and molecular interactions between immune cells and cancer cells has not only provided important fundamental insights into the disease, but has also led to the development of new immunotherapies. The C-type lectin Dendritic Cell ImmunoReceptor (DCIR) is primarily expressed by myeloid cells and is an important regulator of immune homeostasis, as demonstrated in various autoimmune, infectious and inflammatory contexts...
March 26, 2024: Scientific Reports
https://read.qxmd.com/read/38518264/light-controlled-multiconfigurational-conductance-switching-in-a-single-1d-metal-organic-wire
#12
JOURNAL ARTICLE
Aleš Cahlík, Martin Ondráček, Christian Wäckerlin, Andres Pinar Solé, Olivier Siri, Martin Švec, Pavel Jelínek
Precise control of multiple spin states on the atomic scale presents a promising avenue for designing and realizing magnetic switches. Despite substantial progress in recent decades, the challenge of achieving control over multiconfigurational reversible switches in low-dimensional nanostructures persists. Our work demonstrates multiple, fully reversible plasmon-driven spin-crossover switches in a single π-d metal-organic chain suspended between two electrodes. The plasmonic nanocavity stimulated by external visible light allows for reversible spin crossover between low- and high-spin states of different cobalt centers within the chain...
March 22, 2024: ACS Nano
https://read.qxmd.com/read/38512958/mobility-analysis-of-a-posterior-sacrospinous-fixation-using-a-finite-element-model-of-the-pelvic-system
#13
JOURNAL ARTICLE
Marine Lallemant, Andres Arteaga Shimojyo, Olivier Mayeur, Rajeev Ramanah, Chrystèle Rubod, Yohan Kerbage, Michel Cosson
INTRODUCTION AND HYPOTHESIS: In order to improve the knowledge POP physiopathology and POP repair, a generic biomechanical model of the female pelvic system has been developed. In the literature, no study has currently evaluated apical prolapse repair by posterior sacrospinous ligament fixation using a generic model nor a patient-specific model that personalize the management of POP and predict surgical outcomes based on the patient's pre-operative Magnetic Resonance Imaging. The aim of our study was to analyze the influence of a right and/or left sacrospinous ligament fixation and the distance between the anchorage area and the ischial spine on the pelvic organ mobility using a generic and a patient-specific Finite Element model (FEM) of the female pelvic system during posterior sacrospinous ligament fixation (SSF)...
2024: PloS One
https://read.qxmd.com/read/38499531/the-evolution-of-metastatic-upper-tract-urothelial-carcinoma-through-genomic-transcriptomic-and-single-cell-protein-markers-analysis
#14
JOURNAL ARTICLE
Kentaro Ohara, André Figueiredo Rendeiro, Bhavneet Bhinder, Kenneth Wha Eng, Hiranmayi Ravichandran, Duy Nguyen, David Pisapia, Aram Vosoughi, Evan Fernandez, Kyrillus S Shohdy, Jyothi Manohar, Shaham Beg, David Wilkes, Brian D Robinson, Francesca Khani, Rohan Bareja, Scott T Tagawa, Madhu M Ouseph, Andrea Sboner, Olivier Elemento, Bishoy M Faltas, Juan Miguel Mosquera
The molecular characteristics of metastatic upper tract urothelial carcinoma (UTUC) are not well understood, and there is a lack of knowledge regarding the genomic and transcriptomic differences between primary and metastatic UTUC. To address these gaps, we integrate whole-exome sequencing, RNA sequencing, and Imaging Mass Cytometry using lanthanide metal-conjugated antibodies of 44 tumor samples from 28 patients with high-grade primary and metastatic UTUC. We perform a spatially-resolved single-cell analysis of cancer, immune, and stromal cells to understand the evolution of primary to metastatic UTUC...
March 18, 2024: Nature Communications
https://read.qxmd.com/read/38480682/biallelic-naa60-variants-with-impaired-n-terminal-acetylation-capacity-cause-autosomal-recessive-primary-familial-brain-calcifications
#15
JOURNAL ARTICLE
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan S Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity...
March 13, 2024: Nature Communications
https://read.qxmd.com/read/38480409/carpenter-bees-apidae-xylocopini-xylocopa-from-maranho-northeast-brazil
#16
JOURNAL ARTICLE
Luciano Andr Chaves Ferreira, Tereza Cristina Giannini, Patrcia Maia Correia DE Albuquerque, Fernando Csar Vieira Zanella
We present a list of Xylocopa Latreille species that occur in Maranho State, a region where several physiognomic formations characteristic of the Amazon, Cerrado, and Caatinga biomes overlap. The information was compiled through numerous surveys conducted in this territory, in addition to direct consultation in scientific collections, which have many unpublished records. Twelve species belonging to three subgenera were documented: Xylocopa (Neoxylocopa) amazonica Enderlein, 1913, X. (N.) aurulenta (Fabricius, 1804), X...
January 25, 2024: Zootaxa
https://read.qxmd.com/read/38467851/a-novel-bioinformatic-approach-reveals-cooperation-between-cancer-testis-genes-in-basal-like-breast-tumors
#17
JOURNAL ARTICLE
Marthe Laisné, Brianna Rodgers, Sarah Benlamara, Julien Wicinski, André Nicolas, Lounes Djerroudi, Nikhil Gupta, Laure Ferry, Olivier Kirsh, Diana Daher, Claude Philippe, Yuki Okada, Emmanuelle Charafe-Jauffret, Gael Cristofari, Didier Meseure, Anne Vincent-Salomon, Christophe Ginestier, Pierre-Antoine Defossez
Breast cancer is the most prevalent type of cancer in women worldwide. Within breast tumors, the basal-like subtype has the worst prognosis, prompting the need for new tools to understand, detect, and treat these tumors. Certain germline-restricted genes show aberrant expression in tumors and are known as Cancer/Testis genes; their misexpression has diagnostic and therapeutic applications. Here we designed a new bioinformatic approach to examine Cancer/Testis gene misexpression in breast tumors. We identify several new markers in Luminal and HER-2 positive tumors, some of which predict response to chemotherapy...
March 11, 2024: Oncogene
https://read.qxmd.com/read/38460241/inter-annual-trends-of-ultrafine-particles-in-urban-europe
#18
JOURNAL ARTICLE
Meritxell Garcia-Marlès, Rosa Lara, Cristina Reche, Noemí Pérez, Aurelio Tobías, Marjan Savadkoohi, David Beddows, Imre Salma, Máté Vörösmarty, Tamás Weidinger, Christoph Hueglin, Nikos Mihalopoulos, Georgios Grivas, Panayiotis Kalkavouras, Jakub Ondráček, Nadĕžda Zíková, Jarkko V Niemi, Hanna E Manninen, David C Green, Anja H Tremper, Michael Norman, Stergios Vratolis, Konstantinos Eleftheriadis, Francisco J Gómez-Moreno, Elisabeth Alonso-Blanco, Alfred Wiedensohler, Kay Weinhold, Maik Merkel, Susanne Bastian, Barbara Hoffmann, Hicran Altug, Jean-Eudes Petit, Olivier Favez, Sebastiao Martins Dos Santos, Jean-Philippe Putaud, Adelaide Dinoi, Daniele Contini, Hilkka Timonen, Janne Lampilahti, Tuukka Petäjä, Marco Pandolfi, Philip K Hopke, Roy M Harrison, Andrés Alastuey, Xavier Querol
Ultrafine particles (UFP, those with diameters ≤ 100 nm), have been reported to potentially penetrate deeply into the respiratory system, translocate through the alveoli, and affect various organs, potentially correlating with increased mortality. The aim of this study is to assess long-term trends (5-11 years) in mostly urban UFP concentrations based on measurements of particle number size distributions (PNSD). Additionally, concentrations of other pollutants and meteorological variables were evaluated to support the interpretations...
February 17, 2024: Environment International
https://read.qxmd.com/read/38460240/recommendations-for-reporting-equivalent-black-carbon-ebc-mass-concentrations-based-on-long-term-pan-european-in-situ-observations
#19
JOURNAL ARTICLE
Marjan Savadkoohi, Marco Pandolfi, Olivier Favez, Jean-Philippe Putaud, Konstantinos Eleftheriadis, Markus Fiebig, Philip K Hopke, Paolo Laj, Alfred Wiedensohler, Lucas Alados-Arboledas, Susanne Bastian, Benjamin Chazeau, Álvaro Clemente María, Cristina Colombi, Francesca Costabile, David C Green, Christoph Hueglin, Eleni Liakakou, Krista Luoma, Stefano Listrani, Nikos Mihalopoulos, Nicolas Marchand, Griša Močnik, Jarkko V Niemi, Jakub Ondráček, Jean-Eudes Petit, Oliver V Rattigan, Cristina Reche, Hilkka Timonen, Gloria Titos, Anja H Tremper, Stergios Vratolis, Petr Vodička, Eduardo Yubero Funes, Naděžda Zíková, Roy M Harrison, Tuukka Petäjä, Andrés Alastuey, Xavier Querol
A reliable determination of equivalent black carbon (eBC) mass concentrations derived from filter absorption photometers (FAPs) measurements depends on the appropriate quantification of the mass absorption cross-section (MAC) for converting the absorption coefficient (babs ) to eBC. This study investigates the spatial-temporal variability of the MAC obtained from simultaneous elemental carbon (EC) and babs measurements performed at 22 sites. We compared different methodologies for retrieving eBC integrating different options for calculating MAC including: locally derived, median value calculated from 22 sites, and site-specific rolling MAC...
March 2, 2024: Environment International
https://read.qxmd.com/read/38454494/the-frequency-of-kdr-and-ace-1-alleles-in-anopheles-gambiae-s-l-before-and-during-indoor-residual-spraying-irs-implementation-and-four-years-after-irs-withdrawal-in-three-districts-in-atacora-benin
#20
JOURNAL ARTICLE
Esdras Mahoutin Odjo, Daniel Impoinvil, Arsène Jacques Y H Fassinou, Gil Germain Padonou, Rock Aïkpon, Albert Sourou Salako, André Aimé Sominahouin, Constantin Adoha, Boulais Yovogan, Razaki Osse, Olivier Oussou, Filémon Tokponnon, Virgile Gnanguénon, Ahmed Saadani Hassani, Martin C Akogbeto
BACKGROUND: Indoor residual spraying (IRS) was first implemented in the Atacora department, Benin from 2011 to 2012 using bendiocarb (carbamate) followed by annual spraying with pirimiphos-methyl (organophosphate) from 2013 to 2018. Before and after IRS implementation in Atacora, standard pyrethroid insecticide-treated bed nets were the main method of vector control in the area. This study investigated the knockdown resistance (kdr) gene (L1014F) and the acetylcholinesterase (ace-1) gene (G119S), before and during IRS implementation, and 4-years after IRS withdrawal from Atacora...
March 7, 2024: Parasites & Vectors
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