其他最新文献

{"title":"TrACE - Trace analysis collaborative exercise: A transparent, expert driven concept of proficiency tests.","authors":"Marielle Vennemann, Hannah Bauer, Katja Anslinger, Martin Eckert, Waldemar Spitz, Stefanie Grethe, Walther Parson, Petra Preikschat-Sachse, The TrACE Team","doi":"10.1016/j.fsigen.2025.103333","DOIUrl":"10.1016/j.fsigen.2025.103333","url":null,"abstract":"<p><p>TrACE (Trace Analysis Collaborative Exercise) represents a novel, strictly expert driven and transparent concept of external quality control based on a combination of proficiency testing and interlaboratory comparisons. TrACE is an official proficiency test scheme of the German Stain Commission and acts in accordance with the recommendations for proficiency testing issued by this commission and outlined in DIN EN ISO 17025. TrACE offers modules on all aspects of forensic genetics that address challenges encountered in real casework. Basic modules represent proficiency tests that cover the physical examination of items, the identification of body fluids, DNA extraction, the analysis of autosomal and Y-chromosomal STRs and mitochondrial DNA (mtDNA), and the interpretation and verbalisation of results, including complex mixtures. Advanced and extended modules provide interlaboratory tests with more challenging items and novel methodology such as probabilistic genotyping and forensic DNA phenotyping (FDP). Each module is coordinated by an internationally recognised expert in the respective field. The members of the TrACE team are based in case work and/or academic forensic laboratories.</p>","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"80 ","pages":"103333"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Physiology behind the Epidemiology of Heat-Related Health Impacts.","authors":"Daniel Gagnon, Zachary J Schlader, Ollie Jay","doi":"10.1152/physiol.00012.2025","DOIUrl":"10.1152/physiol.00012.2025","url":null,"abstract":"<p><p>A direct consequence of climate change is the intensification of hot weather and extreme heat events that are epidemiologically associated with a greater risk of heat-related illnesses and other adverse health outcomes, often resulting in subsequent hospital admissions and mortality. The health risks associated with hot weather directly arise from the body's physiological responses (i.e., heat strain) to heat exposure. The magnitude of heat strain experienced and the extent of heat strain required to cause an adverse health outcome can be modulated by personal characteristics and the adoption of protective behaviors. This review presents the pathophysiological mechanisms responsible for the epidemiological association between heat exposure and a greater risk of heat illnesses (e.g., heat exhaustion, heatstroke), adverse cardiovascular events, and acute kidney injury or failure. These mechanisms are framed within the larger context that defines heat-related health risks, and we provide examples and perspectives of how physiologists are uniquely positioned to contribute to risk reduction and adaptation efforts to protect humans against the adverse health impacts of heat, while maintaining optimum well-being and performance.</p>","PeriodicalId":520753,"journal":{"name":"Physiology (Bethesda, Md.)","volume":" ","pages":"0"},"PeriodicalIF":10.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What Do We Know of Human Fuel Use during Aerobic Exercise, and How Do We Know It?","authors":"Jessie Axsom, Zolt Arany","doi":"10.1152/physiol.00002.2025","DOIUrl":"10.1152/physiol.00002.2025","url":null,"abstract":"<p><p>Aerobic exercise is arguably the most metabolically demanding challenge imposed on the human body. The metabolic adaptations to exercise are complex, involving most tissues and differing substantially depending on the type, severity, and duration of exercise as well as the extent of prior training. Studies of these metabolic responses have been ongoing for decades, including the active National Institutes of Health (NIH)-supported consortium MotrPAC. Most studies have been carried out in model organisms, generally rodents or dogs. However, the metabolism of these model organisms substantially differs from humans. We therefore review here what is known specifically of human metabolism during exercise. For the sake of brevity, we focus on aerobic exercise without extensive prior training. We review methods used to reach conclusions, highlight the many remaining unknowns, and discuss questions requiring future experimental attention.</p>","PeriodicalId":520753,"journal":{"name":"Physiology (Bethesda, Md.)","volume":" ","pages":"0"},"PeriodicalIF":10.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12375902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144791739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Growth Hormone and IGF-1 Actions in the Brain and Neuropsychiatric Diseases.","authors":"Manuel H Aguiar-Oliveira, Margaret C S Boguszewski, Diego L Rovaris, Jose Donato","doi":"10.1152/physiol.00009.2025","DOIUrl":"10.1152/physiol.00009.2025","url":null,"abstract":"<p><p>Growth hormone (GH) is secreted by the anterior pituitary gland under the control of hypothalamic neuroendocrine neurons that express somatostatin or growth hormone-releasing hormone (GHRH). Ghrelin, originating primarily in the stomach, is also an important GH secretagogue. GH stimulates the hepatic secretion of insulin-like growth factor-1 (IGF-1) and the expression of IGF-1 in extrahepatic tissues, including the brain. Many regions of the brain express receptors for GH, IGF-1, and ghrelin. In recent decades, evidence from both human and animal studies has indicated that GH, IGF-1, and ghrelin regulate numerous brain functions. Alterations in the secretion or sensitivity to these hormones may represent risk factors for developing neurodegenerative diseases (e.g., Alzheimer's and Parkinson's) and neuropsychiatric conditions (such as depression, anxiety, posttraumatic stress disorder, schizophrenia, and bipolar disorder). Additionally, classical neurodevelopmental disorders such as autism spectrum and attention-deficit hyperactivity disorders may also be influenced by somatotropic hormones. This review aims to summarize and discuss the emerging role of GH and IGF-1 in influencing brain function and the predisposition to brain diseases and neuropsychiatric disorders.</p>","PeriodicalId":520753,"journal":{"name":"Physiology (Bethesda, Md.)","volume":" ","pages":"0"},"PeriodicalIF":10.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12290765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144586181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From Cells to Selves and Back: Human Neurodiversity at Single-Cell Resolution.","authors":"Manuel Lessi, Nicolò Caporale, Giuseppe Testa","doi":"10.1152/physiol.00010.2025","DOIUrl":"10.1152/physiol.00010.2025","url":null,"abstract":"<p><p>Human brain development is characterized by a complex cellular and molecular landscape, which varies both within and between individuals. Here, we explore the transformative impact of single-cell omics technologies on our understanding of human neurodiversity and neurocomplexity. We trace historical progressions of cellular and molecular biology, highlighting the cell as a pivotal \"place holder\" for biological inquiry, as a basis to better understand the current revolution of single-cell profiling, enabling the study of individual genomes and environmental interactions at unprecedented resolution. Starting from the challenges of defining cell types and states within neurodevelopment, we emphasize the significance of moving beyond categorical distinctions to understand the molecular basis of interindividual neurodiversity, including genetics, environment, and developmental stochasticity. We introduce the concept of \"in vitro epidemiology,\" leveraging neural organoids and multiplexing approaches to model population-scale cohorts in vitro and thus enabling the dissection of gene-environment interactions at single-cell resolution. We further discuss technical advancements and computational methodologies that are driving the field forward, including the efforts to create comprehensive cell atlases of the human brain and the emerging challenges in data integration and analysis. Finally, we anticipate future perspectives for single-cell studies and neural organoids in advancing our understanding of neurobiology and cell-based strategies for drug discovery and personalized treatment.</p>","PeriodicalId":520753,"journal":{"name":"Physiology (Bethesda, Md.)","volume":" ","pages":"0"},"PeriodicalIF":10.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of pipelines, seq2seq models, and LLMs for rare disease information extraction.","authors":"Shashank Gupta, Xuguang Ai, Yuhang Jiang, Ramakanth Kavuluru","doi":"10.1007/978-3-031-97141-9_4","DOIUrl":"https://doi.org/10.1007/978-3-031-97141-9_4","url":null,"abstract":"<p><p>End-to-end relation extraction (E2ERE) is an important application of natural language processing (NLP) in biomedicine. The extracted relations populate knowledge graphs and drive more high level applications in knowledge discovery and information retrieval. E2ERE is frequently handled at the sentence level involving continuous entities. A more complex setting is document level E2ERE with discontinuous and overlapping/nested entities. We identified a recently introduced RE dataset for rare diseases (RareDis) that has these complex traits. Among current E2ERE methods, we see three well-known paradigms: (1) pipeline based approaches where a named entity recognition (NER) model's output is input to a relation classification (RC) model; (2) joint sequence-to-sequence style models where the raw input text is directly transformed into relations through linearization schemas; and (3) generative large language models (LLMs), where prompts, fine-tuning, and in-context learning are being leveraged for RE. While LLMs are becoming popular because of tools such as ChatGPT, the biomedical NLP community needs to carefully evaluate which paradigm is more suitable for E2ERE. In this effort, using the RareDis dataset as a complex use-case, we evaluate the best representative models from each of the three paradigms for E2ERE. Our findings reveal that pipeline models are still the best, while sequence-to-sequence models are not far behind. We verify these findings on a second E2ERE dataset for chemical-protein interactions. Although LLMs are more suitable for zero-shot settings, our results show that it is better to work with more conventional models trained and tailored for E2ERE when training data is available. Our contribution is also the first to conduct E2ERE for the RareDis dataset.</p>","PeriodicalId":92107,"journal":{"name":"Natural language processing and information systems : ... International Conference on Applications of Natural Language to Information Systems, NLDB ... revised papers. International Conference on Applications of Natural Language to Info...","volume":"15836 ","pages":"49-63"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12367198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revisiting guidance on population sampling for highly polymorphic STR loci.","authors":"Sanne E Aalbers, Katherine B Gettings","doi":"10.1016/j.fsigen.2025.103336","DOIUrl":"10.1016/j.fsigen.2025.103336","url":null,"abstract":"<p><p>Population databases allow us to attach probabilities to DNA evidence by the estimation of genotype frequencies, which rely on accurate allele frequency estimates. As short tandem repeat (STR) marker sets for human identification have expanded to include more discriminating markers, and especially now that sequencing techniques allow us to distinguish between alleles based on variation in underlying base-pair structure, it is important to reevaluate existing guidance on population database sizes for the estimation of allele frequencies. In this paper, we revisit the topic of population sampling by focusing on the representation of alleles, i.e. whether alleles are observed or not, in a sample of individuals containing data for highly polymorphic autosomal STR loci. The effect of both length- and sequence-based STR data on population sample size implications are demonstrated, and differences between lesser and more polymorphic markers are discussed. The consequences of using a limited number of individuals are explored and the impact of increasing population sample sizes by combining different data sets is shown to help determine the point at which further sampling may no longer provide significant value. Finally, different approaches for accommodating previously unobserved alleles and their impact on DNA evidence evaluations are discussed.</p>","PeriodicalId":94012,"journal":{"name":"Forensic science international. Genetics","volume":"80 ","pages":"103336"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12382342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144805494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adipose Progenitor Cells in Thermogenesis and Metabolic Regulation.","authors":"Cigdem Sahin, Yu-Hua Tseng","doi":"10.1152/physiol.00006.2025","DOIUrl":"10.1152/physiol.00006.2025","url":null,"abstract":"<p><p>Thermogenic adipose tissues, including brown and beige, exhibit remarkable cellular and metabolic adaptations to environmental and physiological cues, contributing to improved metabolic health. Among these adaptations, adipose progenitor cells (APCs), a heterogeneous cell population comprising distinct subsets, play a crucial role in generating thermogenic adipocytes and promoting healthy adipose tissue remodeling and metabolic homeostasis. Therefore, targeting APCs offers a potential therapeutic approach for regulating adipose plasticity and remodeling to address metabolic dysregulation. The precise identity of APCs and the roles of specific APC subtypes in metabolic regulation and diseases remain to be elucidated. Here, we summarize recent findings on the lineage of APCs that give rise to thermogenic adipocytes and how environmental conditions regulate their proliferation and differentiation. Finally, we discuss the potential of targeting APCs as an alternative therapeutic strategy to combat metabolic diseases.</p>","PeriodicalId":520753,"journal":{"name":"Physiology (Bethesda, Md.)","volume":" ","pages":"0"},"PeriodicalIF":10.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12385725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficient and Effective Diabetes Care in the Era of Digitalization and Hypercompetitive Research Culture: A Focused Review in the Western Pacific Region with Malaysia as a Case Study.","authors":"Boon-How Chew, Pauline Siew Mei Lai, Dhashani A/P Sivaratnam, Nurul Iftida Basri, Geeta Appannah, Barakatun Nisak Mohd Yusof, Subashini C Thambiah, Zubaidah Nor Hanipah, Ping-Foo Wong, Li-Cheng Chang","doi":"10.1080/23288604.2024.2417788","DOIUrl":"https://doi.org/10.1080/23288604.2024.2417788","url":null,"abstract":"<p><p>There are approximately 220 million (about 12% regional prevalence) adults living with diabetes mellitus (DM) with its related complications, and morbidity knowingly or unconsciously in the Western Pacific Region (WP). The estimated healthcare cost in the WP and Malaysia was 240 billion USD and 1.0 billion USD in 2021 and 2017, respectively, with unmeasurable suffering and loss of health quality and economic productivity. This urgently calls for nothing less than concerted and preventive efforts from all stakeholders to invest in transforming healthcare professionals and reforming the healthcare system that prioritizes primary medical care setting, empowering allied health professionals, improvising health organization for the healthcare providers, improving health facilities and non-medical support for the people with DM. This article alludes to challenges in optimal diabetes care and proposes evidence-based initiatives over a 5-year period in a detailed roadmap to bring about dynamic and efficient healthcare services that are effective in managing people with DM using Malaysia as a case study for reference of other countries with similar backgrounds and issues. This includes a scanning on the landscape of clinical research in DM, dimensions and spectrum of research misconducts, possible common biases along the whole research process, key preventive strategies, implementation and limitations toward high-quality research. Lastly, digital medicine and how artificial intelligence could contribute to diabetes care and open science practices in research are also discussed.</p>","PeriodicalId":73218,"journal":{"name":"Health systems and reform","volume":"11 1","pages":"2417788"},"PeriodicalIF":0.0,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Do Pro-Competition Healthcare Reforms Always Bring Health Benefits? Evidence from China.","authors":"Zixuan Peng, Audrey Laporte, Xiaolin Wei, Jay Pan, Peter C Coyte","doi":"10.1080/23288604.2025.2507975","DOIUrl":"https://doi.org/10.1080/23288604.2025.2507975","url":null,"abstract":"<p><p>It is already a common practice for many health care systems in the world to opt for mixed markets where different types of health care facilities compete against each other to offer high-quality health care to patients. Nevertheless, little is known about the effects of the interaction between hospitals of the same or different type on patient health outcomes. This study estimated the impacts of aggregate and specific types of hospital competition by hospital-type on the quality of inpatient care using an analysis dataset comprising 267,183 individuals from China. The Herfindahl-Hirschman index was employed to measure the degree of hospital competition, with length of stay, readmission and mortality being used to measure the quality of inpatient care. The Poisson and binomial logistic models combined with the instrumental variable approach were constructed to estimate the impacts of hospital competition. This study generated three key findings: 1) aggregate hospital competition reduced the quality of inpatient care, as evidenced by a rise in the odds of readmission and length of stay; 2) intra-type hospital competition reduced the quality of inpatient care and in general had larger effects on reducing the quality of inpatient care than inter-type hospital competition; and 3) the only exception was in the way that competition between private nonprofit hospitals contributed to better quality of inpatient care. The overarching suggestion is that instead of treating competition as a panacea for improving health, a flexible plan tailored to specific conditions is needed.</p>","PeriodicalId":73218,"journal":{"name":"Health systems and reform","volume":"11 1","pages":"2507975"},"PeriodicalIF":0.0,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144259534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}