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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFConceptualizing a load and volume autoregulation integrated velocity model to minimize neuromuscular fatigue and maximize neuromuscular adaptations in resistance training.
Eur J Appl Physiol
January 2025
College of Kinesiology, University of Saskatchewan, Saskatoon, SK, Canada.
Resistance training (RT) load and volume are considered crucial variables to appropriately prescribe and manage for eliciting the targeted acute responses (i.e., minimizing neuromuscular fatigue) and chronic adaptations (i.
View Article and Find Full Text PDFKnowledge and behavior towards COVID-19 in the northern region of the state of Rio de Janeiro - Brazil.
J Infect Dev Ctries
December 2024
Faculdade de Medicina de Campos, Campos dos Goytacazes, Brazil.
Introduction: Despite efforts by health organizations to share evidence-based information, fake news hindered the promotion of social distancing and vaccination during the coronavirus disease 2019 (COVID-19) pandemic. This study analyzed COVID-19 knowledge and practices in a vulnerable area in northern Rio de Janeiro, acknowledging the influence of the complex social and economic landscape on public health perceptions.
Methodology: This cross-sectional study was conducted in Novo Eldorado - a low-income, conflict-affected neighborhood in Campos dos Goytacazes - using a structured questionnaire, following the peak of COVID-19 deaths in Brazil (July-December 2021).
The developmental lipidome of Nippostrongylus brasiliensis.
Parasit Vectors
January 2025
Department of Veterinary Biosciences, Melbourne Veterinary School, Faculty of Science, The University of Melbourne, Parkville, VIC, 3010, Australia.
Background: Nippostrongylus brasiliensis-a nematode of rodents-is commonly used as a model to study the immunobiology of parasitic nematodes. It is a member of the Strongylida-a large order of socioeconomically important parasitic nematodes of animals. Lipids are known to play essential roles in nematode biology, influencing cellular membranes, energy storage and/or signalling.
View Article and Find Full Text PDFLoss of flavonoids homeostasis leads to pistillody in sua-CMS of Nicotiana tabacum.
BMC Plant Biol
January 2025
School of Engineering, Dali University, Dali, Yunnan Province, China.
The homeotic transformation of stamens into pistil-like structures (pistillody) causes cytoplasmic male sterility (CMS). This phenomenon is widely present in plants, and might be induced by intracellular communication (mitochondrial retrograde signaling), but its systemic regulating mechanism is still unclear. In this study, morphological observation showed that the stamens transformed into pistil-like structures, leading to flat and dehiscent pistils, and fruit set decrease in sua-CMS (MS K326, somatic fusion between Nicotiana.
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