Results 101 to 110 of about 4,334 (266)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Etoque, oferta e uso da informação: reflexões sobre um recurso estratégico para o desenvolvimento do setor produtivo

Transinformação
Trata-se de uma retrospectiva histórica sobre o empenho da humanidade em estocar conhecimento, contextualizada nos aspectos culturais de cada período. Discute-se a oferta da informação sob o enfoque de uma produção contínua de conhecimento, enfatizando ...
Celeste Aída Sirotheau Corrêa Jannuzzi
doaj  

Risk stratification and anal cancer screening in immunocompetent women with genital HPV: Value of multicentric HSIL and performance of HPV‐based screening

International Journal of Cancer, EarlyView.
What's New? Anal squamous cell carcinoma (ASCC) incidence is increasing, with most cases occurring in immunocompetent women. ASCC risk is linked in particular to genital human papillomavirus (HPV) infection and HPV‐associated high‐grade squamous intraepithelial lesions (HSILs).
Isabel Matas, Aureli Torné, Adela Saco, Cristina Martí, Ada Cardiel, Natalia Rakislova, Lorena Marimon, Ariel Glickman, Ingrid Victoria, Silvia Alós, Jesús Lopez‐Diaz, Pere Fusté, Jaume Ordi, Marta del Pino   +13 more
wiley   +1 more source

Competitividade no setor industrial

Revista Produção Online
O conhecimento dos custos envolvidos na produção de bens e serviços se trata de algo com elevada importância no contexto empresarial da atualidade. Assim, o presente estudo objetivou identificar, mensurar e analisar os custos de ociosidade presentes em uma indústria metalmecânica, fabricante de turbinas automotivas, localizada no Sul do Brasil.
Alex Eckert, Myke Zatta Cavali
openaire   +1 more source

Competitividad Porsche Latinoamerica [PDF]

, 2015
En base al trabajo se observara la forma en como Porsche Latinoamerica nos muestra una vision hacia el mundo de los negocios, nos mostrara algunas de sus estrategias y su forma en como esta organizada esta grande empresa automotriz. Tambien se analizaran algunos aportes que serviran de ayuda a la respuesta de una serie de preguntas que fueron de guia ...
openaire   +1 more source

Sensitive Period Analysis of Adulthood BMI and Cancer Risk: An Individual Participant Data Meta‐Analysis of Over 720,000 Participants in the ABACus 2 Consortium

International Journal of Cancer, EarlyView.
Over a dozen cancers have been associated with excess body mass index, primarily in mid‐to‐late adulthood. Whether obesity‐related cancer risk differs across adulthood remains unclear. Using the Sensitive Periods Model and super‐landmarking approaches, this study found that higher BMI increased obesity‐related cancer risk across ages 30–65.
Nadin K. Hawwash, Matthew Sperrin, Glen P. Martin, Rashmi Sinha, Charles E. Matthews, Matthias B. Schulze, Anouk Hiensch, Pilar Amiano, Marian L. Neuhouser, Corinne E. Joshu, Elizabeth A. Platz, Heinz Freisling, Marc J. Gunter, Andrew G. Renehan   +13 more
wiley   +1 more source

Diagnostic Performance of Comprehensive Point‐of‐Care Ultrasound for Pediatric Tuberculosis in Spain: A Prospective Observational Study

Journal of Clinical Ultrasound, EarlyView.
In children with presumptive tuberculosis, comprehensive point‐of‐care (cPOCUS) identified key thoracic abnormalities with high specificity and excellent inter‐reader reliability. Although diagnostic sensitivity was modest and examinations often incomplete, cPOCUS shows promise as a complementary, radiation‐free imaging tool.
Isabelle Munyangaju, Antoni Noguera‐Julian, Aleix Soler‐Garcia, Antoni Soriano‐Arandes, José Miguel Escudero Fernández, Maria Espiau, Begoña Santiago Garcia, Alicia Hernanz‐Lobo, Ángel M. Lancharro Zapata, Enrique Ladera, Angela Manzanares, Daniel Blazquez, Elisa Aguirre Pascual, Isabelle Thierry‐Chef, Danilo Buonsenso, Xavier Serres‐Créixams, Quique Bassat, Elisa Lopez‐Varela   +17 more
wiley   +1 more source

Correction: The psychological impact of the COVID-19 pandemic in Portugal: The role of personality traits and emotion regulation strategies. [PDF]

PLoS One, 2023
Kluwe-Schiavon B, De Zorzi L, Meireles J, Leite J, Sequeira H, Carvalho S.   +5 more
europepmc   +1 more source

A simple index for assessing cumulative human impacts on mountain lakes

Limnology and Oceanography: Methods, EarlyView.
Abstract Mountain lakes are highly sensitive ecosystems and effective sentinels of environmental change, yet the exposure and magnitude of the human footprint remain poorly quantified. In this study, we develop a simple and non‐invasive abiotic index to assess cumulative pressures on mountain lakes. The proposed index integrates eight variables grouped
Clara Sáez, Ignasi Arranz, Guillermo García‐Gómez, Javier Sánchez‐Hernández   +3 more
wiley   +1 more source

A FORMAÇÃO PARA O TRABALHO: COMPETITIVIDADE E LUTA PELA SOBREVIVÊNCIA NOS AMBIENTES ORGANIZACIONAIS / The formation for work: competitiveness and fight for survival in the organization environment

Trabalho & Educação, 2011
Busca-se discutir a aprendizagem organizacional em seu aspecto regressivo que toma a formação do homem como formação para o trabalho, indissociada de sua vinculação à competitividade exacerbada e luta pela sobrevivência no ambiente organizacional.
Denise Alves Guimarães
doaj