BMC

BMC

@bmc.springernature.com

A pioneer of sustainable open access, where research is always in progress.

1.1K followers590 following1.2K posts

BMC
@bmc.springernature.com

A study in BMC Medical Imaging proposes a knowledge-guided AI-driven approach that integrates multiple sources of information to improve tumour segmentation. #MedSky #AI

bit.lyKnowledge-guided brain tumor segmentation via synchronized visual-semantic-topological prior fusion - BMC Medical ImagingBrain tumor segmentation requires precise delineation of hierarchical structures from multi-sequence MRI. However, existing deep learning methods primarily rely on visual features, showing insufficient discriminative power in ambiguous boundary regions. Moreover, they lack explicit integration of medical domain knowledge such as anatomical semantics and geometric topology. We propose a knowledge-guided framework, Synchronized Tri-modal Prior Fusion (STPF), that explicitly integrates three heterogeneous knowledge priors: pathology-driven differential features (T1ce-T1, T2-FLAIR, T1/T2) encoding contrast patterns, unsupervised semantic descriptions transformed into voxel-level guidance via spatialization operators, and geometric constraints extracted through persistent homology analysis. A dual-level fusion architecture dynamically allocates prior weights at the voxel level based on confidence and at the sample level through hypernetwork-generated conditional vectors. Furthermore, nested output heads structurally ensure the hierarchical constraint ET $$\subseteq$$ TC $$\subseteq$$ WT. STPF achieves a mean Dice coefficient of 0.868 on the BraTS 2020 dataset, surpassing the best baseline by 2.6% points (3.09% relative improvement). Notably, five-fold cross-validation yields coefficients of variation between 0.23% and 0.33%, demonstrating stable performance. Additionally, ablation experiments show that removing topological and semantic priors leads to performance degradation of 2.8% and 3.5%, respectively. By explicitly integrating medical knowledge priors—anatomical semantics and geometric constraints—STPF improves segmentation accuracy in ambiguous boundary regions while demonstrating generalization capability and clinical deployment potential.
BMC
@bmc.springernature.com

A study published in BMC Nutrition finds that caffeine consumption is a significant independent predictor of poor sleep quality, particularly affecting sleep duration and disturbances. #MedSky #NutSky

bit.lyCaffeine intake from different dietary sources and its association with sleep quality in employed adults - BMC NutritionThis study aimed to determine the frequency and amount of consumption of caffeine-containing foods among adults in active employment and to examine the rel
BMC
@bmc.springernature.com

A study in BMC Pulmonary Medicine finds that patients with post-COVID syndrome show a high and persistent symptom burden, frequently accompanied by reduced inspiratory muscle strength and impaired exercise capacity despite preserved spirometry. #MedSky

bit.lySymptom burden, lung function, exercise tolerance and inflammation in patients post COVID-19: results from the prospective COVID-19 Chronic Morbidity (CCHROMO) study - BMC Pulmonary MedicineBackground Post-COVID syndrome is common and associated with substantial morbidity, yet its pathophysiology and predictors of disease course remain incompletely understood. This study aimed to quantify symptom burden in patients attending a post-COVID outpatient clinic and to evaluate associations with pulmonary function parameters, exercise capacity, and circulating biomarkers. Methods The prospective CCHROMO cohort collects longitudinal clinical data, detailed pulmonary function testing, and blood samples from patients with persistent symptoms following SARS-CoV-2 infection, with planned follow-up of up to three years. We present an interim analysis of 253 patients contributing 561 study visits (median follow-up 273 days after COVID-19 diagnosis; interquartile range [IQR] 177–332). Assessments included standardized symptom questionnaires, spirometry, inspiratory muscle strength testing, cardiopulmonary exercise testing (CPET), and serum biomarker measurements reflecting inflammation as well as epithelial and endothelial injury. Results At study entry, the most prevalent symptoms were fatigue (84.6% reporting at least moderate severity), dyspnoea (70.3%), headache (69.8%), and neurocognitive impairment (66.4%). Spirometric values were within normal ranges in most participants. In contrast, reduced inspiratory muscle strength was observed in 54.8% of visits, and impaired exercise capacity on CPET in 28.8%. Correlations between symptom severity, pulmonary function, CPET parameters, and circulating biomarkers were weak. Serum club cell protein-16 (CC-16) levels were lower in patients with severe fatigue (median [IQR] 6.6 [4.7–8.4] ng/mL) compared with those without fatigue (7.6 [6.3–10.1] ng/mL; p = 0.039). Conclusions Patients with post-COVID syndrome show a high and persistent symptom burden, frequently accompanied by reduced inspiratory muscle strength and impaired exercise capacity despite preserved spirometry. Associations between symptoms, physiological measures, and biomarkers were weak and suggest heterogenous post-COVID manifestations. Trial registration German Clinical Trials Register (DRKS00022475, Date of Registration 2020-07-27).
BMC
@bmc.springernature.com

Adherence to a healthy plant-based diet, including vegetables, fruits, whole grains, nuts, and legumes, may be beneficial for breast cancer prevention, mainly in postmenopausal women, finds a study published in the Journal of Health, Population and Nutrition. bit.ly/3YBXrsj #MedSky #OncoSky

BMC
@bmc.springernature.com

A study published in Clinical Epigenetics indicates moderate but persistent changes in whole blood up to four months post COVID-19 infection. 🧬

bit.lyDNAm landscape up to 4 months post SARS-CoV-2 infection: insights from four population-based cohorts - Clinical EpigeneticsBackground Evidence for persistent epigenetic changes in individuals who had a mild SARS-CoV-2 infection is limited, as most DNA methylation (DNAm) studies to date have focused on either the acute phase of infection or on the months following infection in severe cases requiring hospitalization. Methods and results Using the Infinium Human MethylationEPIC BeadChip, we investigated blood DNA methylation (DNAm) up to four months after SARS-CoV-2 infection in cases and controls from four population-based cohorts (NAKO, Lifelines, CON-VINCE, and TiKoCo; n = 675) within the framework of the ORCHESTRA Consortium. We observed DNAm changes at 16 differentially methylated positions (DMPs) and 21 differentially methylated regions (DMRs), with 89% of these DMPs/DMRs hypomethylated in cases compared to age- and sex-matched controls. Genes mapped to these CpGs were annotated with Gene Ontology terms and pathways related to immune responses to viral infection. eQTM analyses in whole blood from an independent cohort (KORA FF4 study) produced 49 significant CpG–transcript pairs, including IFI44L and GNA12. Despite inter-individual variability and cohort heterogeneity, our findings regarding four DMPs (IFI44L, MX1, DDX60, and RABGAP1L) and two DMRs (PARP9 and GNA12) replicate changes described both in the acute phase of infection and at long-term follow-up. Differential methylation at other novel loci may reflect the systemic nature of post-infection epigenetic changes. Conclusion Our findings suggest moderate but persistent epigenetic changes up to four months after SARS-CoV-2 infection in mild cases from population-based cohorts. These changes partially mirror those reported during the acute phase of both mild and severe COVID-19 and overlap with pathways dysregulated in autoimmune, metabolic and neurological disease. Future research should examine epigenetic changes associated with persisting symptoms in long COVID, investigate downstream effects of DNAm changes on other -omics, and consider longer follow-up periods to further elucidate the molecular mechanisms underlying SARS-CoV-2 induced epigenetic changes.
BMC
@bmc.springernature.com

A case of a woman unable to walk after COVID-19 infection: this Behind the Paper blog from the Journal of Medical Case Reports explores the clinical features of post-infectious myoclonus-ataxia syndrome and the rationale for immunotherapy. bit.ly/4f4pyI2 #MedSky

BMC
@bmc.springernature.com

A Review in BMC Biology explores emerging strategies that go beyond dissolving pathological condensates, such as inducing, redirecting, or reprograming their dynamics, composition, and physical state, offering a new framework for therapeutic design based on modulation of condensates. #MedSky

bit.lyTargeting biomolecular condensates: beyond dissolution - BMC BiologyBiomolecular condensates control key cellular processes, from gene expression to signal transduction, by organizing molecules through selective compartmentalization. Increasing evidence links their dysregulation to cancer, neurodegeneration, and other diseases, positioning condensates as promising therapeutic targets. This review explores emerging strategies that go beyond dissolving pathological condensates, including approaches that induce, redirect, or reprogram their dynamics, composition, and physical state. Rather than inhibiting individual proteins, these interventions reshape the cellular organization itself. By targeting the material and functional properties of condensates, such strategies offer a new conceptual framework for therapeutic design in complex, dysregulated biological systems.
BMC
@bmc.springernature.com

A study published in BMC Biotechnology shows how AI can reliably spot poisonous mushrooms using an explainable deep learning model with a 95.67% accuracy, thus preventing misidentifications and promoting food safety. #MedSky #STS

bit.lyExplainable deep learning ensemble framework for accurate classification of wild poisonous mushroom species - BMC BiotechnologyThis study introduces an explainable deep learning framework for the accurate classification of wild poisonous mushroom species, contributing to food safet
BMC
@bmc.springernature.com

A study in Biomarker Research highlights the clinical utility of multigene assay qMIDSV3 as a triage test, sparing most of the oral potentially malignant disorder patients from unnecessary invasive tissue biopsies while accurately identifying oral squamous cell carcinoma cases. #OncoSky

bit.lyINHBA–S100A16 dysregulation enables a non-invasive molecular stratification platform for rapid detection of oral squamous cell carcinoma: results from a large diagnostic case-control study - Biomarker ResearchBackground Early diagnosis of oral squamous cell carcinoma (OSCC) is critical, yet most oral potentially malignant disorders (OPMDs) are benign, and patients frequently undergo unnecessary invasive scalpel biopsies, creating diagnostic delays and patient harm. A rapid, non-invasive molecular diagnostic tool could improve early detection and reduce unnecessary procedures. This study aims to determine whether a previously validated microbiopsy-based multigene assay (qMIDSV2) could be adapted into a rapid, non-invasive brush biopsy test (qMIDSV3) for accurate OSCC detection. A prespecified hypothesis was that qMIDSV3 could distinguish OSCC from low-risk OPMD and contralateral normal mucosa with high diagnostic sensitivity. Methods This prospective diagnostic case-control study validated a multigene mRNA test (qMIDSV3) for OSCC detection using 1090 oral brush biopsies from 545 patients. Each patient provided paired brush biopsies from oral lesion and contralateral non-lesion mucosa, including OSCC (n = 443), oral leukoplakia (OL; n = 63), and oral lichen planus (OLP; n = 39). qPCR quantified mRNA levels of four genes (INHBA, S100A16, YAP1, POLR2A) from each brush biopsy, and an algorithm generated a malignancy index for cancer risk stratification. Results qMIDSV3 distinguished OSCC from OL and OLP with AUC 0.975, sensitivity 95.7%, specificity 95.1%, and overall accuracy 95.5%. False-positive and false-negative rates were 4.9% and 4.3%, demonstrating high specificity for detecting malignant cells rather than premalignant or inflammatory lesions. Conclusions Our findings highlight the clinical utility of qMIDSV3 as a rapid case-finding or triage test, potentially sparing over 90% of low-risk OPMD patients from unnecessary invasive tissue biopsies while accurately identifying OSCC cases. Non-invasive brush biopsy allows safe, repeatable sampling for long-term surveillance with minimal patient harm and enhancing early oral cancer detection. By reducing unnecessary scalpel biopsies and specialty referrals, qMIDSV3 provides a molecularly guided and rapid triage pathway.
BMC
@bmc.springernature.com

The ‘lemon frost’ mutation in leopard geckos is linked to a high cancer risk. A study in BMC Biology reveals how this mutation disrupts tumor‑suppressor pathways, making these geckos a unique non‑mammalian model for studying mechanisms of tumorigenesis and metastasis. #OncoSky #Epigenetics

bit.lyDissecting cancer in a non-mammalian model: genomic insights from lemon frost geckos - BMC BiologyBackground Comparative oncology can uncover novel mechanisms of cancer resistance and progression across animals. Non-traditional model organisms with naturally high or low cancer prevalence may provide further insights into metastasis or cancer resistance. In this context, the “lemon frost” morph of the leopard gecko (Eublepharis macularius) shows high prevalence of iridophoromas, exceeding 80%. These tumors can recur and metastasize, presenting a unique opportunity to study pigment cell cancer and tumor progression in a non-mammalian vertebrate. Results We performed high-coverage whole-genome sequencing on matched tumor and non-tumor samples from three lemon frost individuals. A shared missense mutation in the TATA-box binding protein (TBP) suggests possible disruption to transcriptional regulation in tumor samples. Additionally, a recurrent gene fusion between IARS1 and RNF213 was identified across all tumor samples. Copy number neutral loss of heterozygosity events were observed in three mutated genes that have a role in cancer: MAP3K13, TENM4, and OR2AT4-like, while copy number gains were observed in four genomic regions. Pathway analysis revealed dysregulation in actin filament organization, a hallmark of metastatic potential. These findings suggest a multifaceted genomic basis for tumorigenesis in this model, including transcriptional misregulation, chromatin remodeling defects, and cytoskeletal disruption. Conclusions This study provides the first characterization of genomic changes associated with iridophoroma in a reptilian species and establishes the lemon frost gecko as a promising model for cancer research. Our findings identify candidate pathways of tumor progression and metastasis in a non-traditional system, highlighting both conserved and novel mechanisms relevant to human disease.
BMC
@bmc.springernature.com

How can we better understand species on the move? A BMC Zoology article shows that integrating data from biologgers with mechanistic models could link individual animal decisions to large-scale range shifts, improving forecasts of wildlife redistribution in a changing world. 🌍

bit.lyLeveraging biologgers to better forecast animal movement and range shifts across scales - BMC ZoologyTo predict how movement strategies shape fitness in a changing world, we must build mechanistic models of species’ ranges and range shifts that align environmental data with the scales of individual perception and decision-making and jointly model biological processes from the individual to the population scale.
BMC
@bmc.springernature.com

A study in BMC Neurology finds that patients with Rett syndrome have substantial disease burden, high rates of healthcare resource utilization and annual healthcare costs, and highlights the unmet need for effective therapies. #MedSky

bit.lyEpidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study - BMC NeurologyBackground Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients with RTT is limited. This study provided an overview of the epidemiology, patient characteristics, clinical manifestations, healthcare resource utilization (HRU), costs, and treatment patterns of patients with RTT in the US. Methods IQVIA™ Medical Claims Data and Longitudinal Prescription Data (11/01/2016–10/31/2019) were used to identify female patients with RTT, with the first observed diagnosis defined as the index date. Annual incidence and prevalence of RTT were assessed over the entire study period; clinical manifestations, all-cause and RTT-related HRU and costs, and treatment patterns were evaluated during the observation period—from the index date to end of clinical activity or end of data availability, whichever occurred first. Results were further stratified into pediatric (< 18 years) and adult (≥ 18 years) subgroups. Results In 2019, prevalence and incidence of RTT was 0.32 and 0.23 per 10,000 enrollees, respectively. Among 5,940 female patients (pediatric: 3,078; adult: 2,862) with mean observation period of 2.04 years, the most prevalent clinical manifestations were neurological disorders (72.8%), gastrointestinal/nutritional disorders (41.9%), and orthopedic disorders (34.6%). The incidence rate of all-cause HRU was 44.43 visits per-patient-per-year and RTT-related HRU comprised 47% of all-cause HRU. Mean all-cause healthcare costs were $40,326 per-patient-per-year, with medical costs driven by home/hospice care visits, therapeutic services, outpatient visits, and inpatient visits. RTT-related healthcare costs comprised 45% of all-cause healthcare costs. The most prevalent supportive therapy and pharmacologic agent were feeding assistance (37.9%) and antiepileptic drugs (54.8%), respectively. Trends were similar by subgroup; although, rates of HRU were generally higher among pediatric patients relative to adult patients (all-cause: 52.43 and 35.86, respectively), which translated into higher mean healthcare costs (all-cause: $45,718 and $34,548, respectively). Conclusions Patients with RTT have substantial disease burden, including prevalent clinical manifestations, high rates of HRU and annual healthcare costs, and reliance on pharmacologic and supportive therapies. These findings underscore the unmet need for effective therapies to target the multifactorial manifestations of RTT.
BMC
@bmc.springernature.com

What drives a career in ovarian cancer research? In this Meet the Editor interview, Rajesh Singh, Senior Editor for Journal of Ovarian Research, discusses the challenges of ovarian cancer, the motivation behind his research, and how scientific discoveries can improve outcomes for patients. #MedSky

bit.lyMeet the Editor: An Interview with Rajesh Singh, Senior Editor for Journal of Ovarian ResearchAn interview with Dr Rajesh Singh, Senior Editor for Journal of Ovarian Research.
BMC
@bmc.springernature.com

A study in BMC Biology demonstrates that macrophage aging is shaped by both tissue niche and sex and provides a framework for understanding the transcriptomic signatures of macrophage aging across tissues. #MedSky

bit.lyShared and niche-specific transcriptional signatures of macrophage aging revealed by a cross-tissue meta-analysis - BMC BiologyBackground Aging is accompanied by widespread transcriptional remodeling across tissues, yet how aging impacts different categories of tissue-resident macrophages is not well understood. Macrophages are highly specialized innate immune cells shaped by their local microenvironments, suggesting that aging may elicit both shared and niche-specific transcriptional responses. Here, we performed a meta-analysis of publicly available bulk and single-cell RNA-seq datasets to characterize age-associated transcriptional changes in murine macrophages across tissues and sexes. We curated and uniformly processed 33 macrophage transcriptomic datasets, derived from 10 distinct tissue niches, in male and female C57BL/6 mice, examining transcriptional changes as a function of age. Results The similarity of differentially expressed aging genes was compared across niches and pathway-level analysis uncovered conserved age-associated signatures, including upregulation of gene sets related to antigen presentation, antioxidant responses, and negative regulation of ferroptosis, alongside downregulation of gene sets related to Wnt, GTPase, and extracellular matrix organization signaling. Transcription factor activity inference identified consistent age-associated activation of AP-1 (Fos, Jun), C/EBPβ, PU.1, and Egr1 across niches. Meta-analysis defined 593 consistently age-altered genes in > 3/4 of analyzed datasets, converging on dysregulation of small GTPase signaling. Focused analysis of alveolar macrophages and microglia, made possible by the larger number of available datasets, revealed sex-specific transcriptional programs altered with age in these macrophage subtypes. Conclusions These findings demonstrate that macrophage aging is shaped by both tissue niche and sex and provides a framework for understanding the transcriptomic signatures of macrophage aging across tissues.
BMC
@bmc.springernature.com

A study in BMC Genomics investigates the genetic diversity and phylogenetic relationships of A. marmoratus from different geographical regions from the Darjeeling Hill Region and other regions across the globe. 🧬 #Epigenetics

bit.lyGenetic divergence and signatures of historical isolation of the traditionally harvested Amolops marmoratus from the Darjeeling Hill Region in the Himalaya Biodiversity Hotspot - BMC GenomicsBackground The Darjeeling Hill Region (DHR) has numerous freshwater bodies, such as hill streams, springs, and temporary water pools. It receives abundant rainfall and has extensive forest cover, which together play vital roles in sustaining frog diversity. Amolops marmoratus is among the notable hillstream frogs, known for its wide geographic distribution and status as a local delicacy. Thus, A. marmoratus is an important subject for studying genetic divergence and population structure along with anthropogenic pressure. This research investigates the standard morphological characteristics and genetic relationships of A. marmoratus globally using 16S rRNA and COI gene sequences. Results Our results revealed low estimates of nucleotide and gene diversity in A. marmoratus from the DHR, whereas comparatively higher values were observed in Southeast Asia, China, and Myanmar. Higher FST values were noted between the DHR populations and those from other Asian regions, whereas lower FST values were found among populations from Myanmar and Southeast Asia. However, these comparisons warrant caution given unequal sample sizes and the potential for cryptic lineage diversity within this taxonomically complex group. Phylogenetic analysis indicated distinct clades corresponding to different regions, with comparatively shorter branches and limited founders in the DHR group. The significantly negative Fu’s Fs value, along with a unimodal mismatch distribution, indicated a deviation from demographic equilibrium reflecting a historical post-founder demographic expansion. Conclusion These findings indicate strong regional differentiation for A. marmoratus. The inherently reduced genetic diversity of A. marmoratus in the DHR is consistent with historical demographic processes and geographic isolation. Furthermore, local frog-eating practices may act as a severe contemporary stressor on this already genetically depauperate population. We recommend framing conservation guidelines and increasing awareness among locals to promote a balanced ecosystem and ensure the long-term survival of A. marmoratus in the DHR.
BMC
@bmc.springernature.com

BMC Public Health is an open-access journal publishing research across all aspects of public health. The journal supports the dissemination of evidence that can inform policy, practice and population health, helping research reach the communities it is intended to serve. bit.ly/4BdefYf #MedSky

BMC
@bmc.springernature.com

Every year World Mental Health Day promotes engagement with individuals experiencing mental health conditions. The International Journal of Mental Health Systems invites submissions that enhance the inclusion of lived experience perspectives in mental health research. bit.ly/4i0FQ5U #PsychSciSky

BMC
@bmc.springernature.com

A study in Microbiome discusses a novel Antarctic chemolithotroph that drives iron biomineralization, shedding new light on how microbes influence Earth's iron cycle. The finding offers fresh insight into iron oxidation processes that have remained poorly understood. bit.ly/4yGwS4p #MicrobiomeSky

BMC
@bmc.springernature.com

World Thrombosis Day falls on October 13th each year. To commemorate #WTDay26, Thrombosis Journal hosted a Q&A with co-EiC Rob Medcalf, discussing the field & exciting journal plans! Know more here: bit.ly/4ymzDaQ #MedSky

BMC
@bmc.springernature.com

BMC Medicine is an open-access, open peer review journal publishing influential research across clinical medicine, public health, global health and health policy. Know more here: bit.ly/4zxcmnx #MedSky

BMC
@bmc.springernature.com

Exceptional memory aging, or ‘SuperAging’, cannot be explained simply by low inherited Alzheimer's disease risk, according to the findings of a study published in Alzheimer’s Research & Therapy. #alzsky

bit.lySuperAging is not the inverse of common-variant Alzheimer’s risk: evidence across genetic ancestries - Alzheimer's Research & TherapyBackground As longevity increases and the population over age 65 expands, advancing age remains the most reliable predictor of cognitive decline, highlighting the need to identify biological mechanisms that support exceptional cognitive aging. We tested whether lower inherited risk of Alzheimer’s disease (AD) dementia predicts SuperAger status (adults ≥ 80 years with episodic memory at least as good as middle-age adults) using prospectively enrolled SuperAgers and Cognitively Average Controls (Controls) from the multisite SuperAging Research Initiative. Methods We studied 231 participants (SuperAgers n = 142; Controls n = 89). We confirmed that the genetic ancestry structure across groups was comparable. We evaluated whether APOE status (ε2, ε3, ε4) and three AD polygenic risk scores (PRS) derived from large contemporary Genome-Wide Association Studies (GWAS) (PRSLambert, PRSWightman, PRSBellenguez) predicted SuperAging status using logistic regression models adjusted for age, sex, and education, considering ancestry interactions. Results APOE allele and genotype distributions did not differ between groups, and neither APOE nor any of the three PRS predicted SuperAger status. Results were unchanged when accounting for global non-European or African ancestry or principal components. In this well-characterized cohort, neither APOE nor contemporary PRS explained SuperAger status. Conclusions These findings suggest that the exceptional late-life memory phenotype that is characteristic of SuperAging is not explained by common-variant AD genetic risk captured by APOE or contemporary AD PRS, motivating a deeper investigation of potential rare genetic variations and experiential factors contributing to exceptional cognitive aging.
BMC
@bmc.springernature.com

Last call! BMC Environmental Science extends the deadline for submissions to the ‘AI for environmental and climate modeling’ Collection to 9 January 2027. Join researchers in supporting SDG13: Climate. Action and submit your work: bit.ly/4B05fW7

BMC
@bmc.springernature.com

A Review in Translational Neurodegeneration evaluates the potential of Fyn inhibitors as a therapeutic target in neurodegenerative diseases, emphasizing selective approaches that block harmful signaling while preserving healthy brain function. #MedSky #NeuroSkyence

bit.lyFyn kinase: a key mechanistic regulator and therapeutic target in tauopathy and neurodegenerative diseases - Translational NeurodegenerationSynaptic dysfunction and intracellular accumulation of pathological tau are convergent hallmarks of Alzheimer’s disease (AD) and related tauopathies, yet the molecular mechanisms coupling these events to widespread neurodegeneration remain incompletely understood. The Src family kinase Fyn has emerged as a critical signaling hub that integrates upstream pathogenic triggers, such as amyloid-β (Aβ), with downstream neurotoxic cascades. Here, we review the multifaceted roles of Fyn in orchestrating synaptic failure, highlighting how Fyn recruitment by mislocalized tau promotes N-methyl-D-aspartate receptor hyperactivation and calcium dysregulation. We examine the biophysical basis of Fyn–tau interactions, particularly the role of liquid–liquid phase separation in stabilizing toxic signaling complexes. We also discuss how aberrant Fyn signaling in microglia and astrocytes amplifies neuroinflammation. Finally, we evaluate the potential of Fyn as a therapeutic target, emphasizing the necessity of strategies that selectively uncouple pathological signaling from physiological functions to effectively halt disease progression.
BMC
@bmc.springernature.com

Behavioral and Brain Functions is calling for submissions to its new Collection on Neural and Behavioral Mechanisms of Emotion and Cognitive Function Across Species, edited by Robert Gerlai and @soaleha.bsky.social Read more here and submit your research before 10 June 2027! bit.ly/4znUWtt

BMC
@bmc.springernature.com

A study published in Ocean Ecosystems studies to what extent reef fish communities support ecological functioning and human nutrition following climate-driven habitat reorganization. 🌍

bit.lyPost-disturbance temperate reef states influence fish contributions to nature and people - Ocean EcosystemsBackground Climate-driven habitat reorganization is reshaping the capacity of marine ecosystems to sustain biodiversity and human well-being, with implications for SDG 14 (Life Below Water) and SDG 2 (Zero Hunger). Yet, it remains unclear to what extent post-disturbance reef fish communities continue to support ecological functioning and human nutrition, particularly in temperate kelp forest ecosystems. Here, we quantify reef fish contributions to nature and people across a 600-km post-heatwave kelp forest gradient along the Pacific coast of Baja California, Mexico. Using 545 transect observations from 12 sites surveyed between 2017 and 2024, we integrated standing biomass, secondary productivity, biomass turnover, and micronutrient provisioning within a Nature for Nature and Nature for People framework. Our design captures spatial variability in reef states for 8 years following the 2014–2016 marine heatwave. Results Across the 2017–2024 post-heatwave period, most reef-fish contributions remained temporally stable across regions and exploitation categories, with only limited directional changes detected among non-targeted species. Fish communities appear to have stabilized into regionally distinct configurations shaped by kelp-forest state. Reefs with persistent canopy-forming kelp emerged as bright spots, supporting high contributions to both nature and people, whereas reefs characterized by understory brown algae and/or urchin barrens showed more reduced contributions. Across the study period, total micronutrient supply per hectare remained temporally stable and largely tracked fish biomass, whereas nutritional quality of an average portion of 100 g of fish changed over time for zinc, vitamin A, and selenium due to species turnover in communities not targeted by fisheries. Our analysis further indicated that fish biomass and total micronutrient supply were structured mainly by spatial variation in sea surface temperature and benthic habitat composition, whereas nutrient concentrations in an average portion of 100 g of fish were largely unrelated to environmental drivers. Conclusions Managing post-heatwave kelp forests requires moving beyond one-size-fits-all strategies, because regional reef states differ markedly in the ecological functions they support and in their contributions to people. Sustaining ocean ecosystem services requires recognizing distinct reef states, protecting ecological and social bright spots, restoring habitat complexity in simplified reefs, and managing biodiversity, fisheries, and human well-being as connected parts of the same system.
BMC
@bmc.springernature.com

A study in BMC Infectious Diseases finds that children with severe COVID-19 share similar immune response patterns seen in adults and identifies gene signatures that distinguish severe illness from mild infection, highlighting potential targets for new therapies. #MedSky

bit.lyImmune transcriptomic differences in paediatric patients with SARS-CoV-2 compared to other lower respiratory tract infections - BMC Infectious DiseasesBackground The clinical severity of SARS-CoV-2 infection in children varies, with asymptomatic or mild illness predominating and a minority developing severe disease. However, studies of the transcriptional responses to SARS-CoV-2 infection in children are limited. Understanding the immunological responses that underlie severity of disease may guide future development of preventive or therapeutic interventions. Methods Whole blood transcriptomes of healthy children (N = 127) were compared to children with mild/asymptomatic SARS-CoV-2 infection (N = 71) and to children hospitalised with severe SARS-CoV-2 (N = 41), lower respiratory tract illness (LRTI), LRTI due to Respiratory Syncytial Virus (RSV-LRTI) (N = 47), or Pulmonary Tuberculosis (PTB) (N = 47). Results We identified > 5000 differentially expressed genes including: OLFM4, IFI27, CBX7, IGF2BP3, OTOF for severe SARS-CoV-2; IFI27, OTOF, SIGLEC1, IFI44L and USP18 for RSV-LRTI, and MMP8, LTF, IGF2BP3, GPR84, CD177, C1QC and DEFA4 for PTB, at false discovery rate (FDR) < 0.05. Pathway analysis identified enrichment for neutrophil degranulation, interferon gamma signalling, overexpression of ribosomal proteins and depletion of immune response in severe SARS-CoV-2 compared to healthy (SAR-CoV-2 uninfected) children. Weighted Gene Co-expression Network Analysis (WGCNA) identified 10 correlated gene modules shared between LRTIs showing similar underlying response mechanisms. Cellular decomposition analysis identified the depletion of 22 cell types in severe SARS-CoV-2, 16 for RSV-LRTI and 21 for PTB compared to healthy children. Conclusion Severe COVID-19 in children exhibits a similar cellular response as previously reported in adults. We identified genes important for discriminating asymptomatic/mild from severe SARS-CoV-2, healthy children from severe SARS-CoV-2, RSV-LRTI and PTB, highlighting future therapeutic targets. Graphical abstract
BMC
@bmc.springernature.com

In a study published in Stem Cell Research & Therapy, researchers develop stem cell-derived pituitary cells that produce ACTH and function in both mouse and primate models, advancing the quest for physiologically responsive treatments for hypopituitarism. #MedSky #Epigenetics

bit.lyFunctional analysis of adrenocorticotropic-hormone–producing pituitary cells derived from human pluripotent stem cells in murine and primate models of hypopituitarism - Stem Cell Research & TherapyBackground Hypopituitarism has a prevalence of approximately 45.5 cases per 100,000 population, is therefore not a rare condition. Hypopituitarism does not resolve spontaneously and is designated as an intractable disease. In particular, deficiency of adrenocorticotropic hormone (ACTH) can result in adrenal insufficiency and life-threatening crises. The current standard of care is hormone replacement therapy; however, precise adjustment to match the physiological variations of hormone demand, such as circadian rhythm and stress responses, is often difficult. Consequently, hypopituitarism patients face a risk of sudden death higher than that in healthy individuals. Our goal is to generate pituitary hormone-producing cells capable of responding to environmental cues, and thereby to provide a novel therapy with physiological responsiveness and assured safety. Methods We previously established a clinically relevant protocol for efficiently generating pituitary–hypothalamus organoids, containing ACTH–producing cells, from human pluripotent stem cells (hPSCs). To provide proof of concept for their therapeutic use as pituitary cell preparations, we transplanted human embryonic-stem-cell-derived pituitary–hypothalamus organoids beneath the subcutaneous tissue of hypopituitary severe combined immunodeficiency mice and evaluated their effects. We next created a hypopituitary cynomolgus monkey model and performed subcutaneous transplantation of pituitary–hypothalamus organoids under an immunosuppressive regimen adapted from human clinical islet-transplantation protocols. Results In mice, transplanted pituitary–hypothalamus organoids survived for more than 6 mo, significantly improved circulating ACTH concentrations, and prolonged survival beyond that of sham-operated mice. In a cynomolgus monkey, transplanted organoids functioned for 6 w and increased circulating ACTH concentrations. Conclusions To our knowledge, no previous study in primates has demonstrated efficacious pituitary cell transplantation, whether derived from fetal pituitary, xenogeneic pituitary, or PSCs. Future priorities include the acquisition of comprehensive non-clinical data to inform design of first-in-human clinical trials; optimisation of transplantation techniques; evaluation of immunosuppressive and adjunctive therapies; and assessment of safety and efficacy parameters. In parallel, the development of scalable manufacturing platforms utilising clinical-grade induced PSCs will be essential to establish the foundation for the eventual clinical application of pituitary cell transplantation therapy.
BMC
@bmc.springernature.com

A study published in Parasites & Vectors establishes the first comprehensive distribution models for 16 tick species in Japan for anticipating the occurrence of tick-borne diseases in this region. #MedSky

bit.lyPredicting the distribution of 16 tick species in Japan and its association with the occurrence of tick-borne diseases - Parasites & VectorsBackground Tick-borne diseases are a significant public health threat. Since the infection risk is directly associated with spatial variations of vector ticks, comprehensive data on their distributions are crucial for disease preparedness. Nevertheless, the difficulty of conducting field surveys over large geographical regions often restricts tick distribution data to localized areas. To overcome this limitation, we combined a nationwide tick survey and species distribution modeling to comprehensively map the potential distribution of ticks in the Japanese archipelago. Methods Ticks were collected by the flagging method at 1,018 sites across 38 prefectures in Japan from 2013 to 2025. The potential suitable habitats of each species were predicted at a 1 km resolution by the maximum entropy method, using climatic, topographic, and landscape variables. The predicted probabilities were converted to proportions of predicted presence grids at the prefectural level and used in regression analyses to examine whether the distribution of each tick species can explain the occurrence of five notifiable tick-borne diseases in Japan. Results A total of 22,416 ticks were collected, and the distributions of 16 tick species were predicted across Japan with robust model performance. The predicted suitable habitats exhibited diverse interspecific variations, including both latitudinal and elevational gradients. Among the variables considered, snow depth was identified as a fundamental determinant of tick distributions, yielding the highest percentage contribution for six species. The regression analyses demonstrated significant correlations between the predicted area occupancy of suspected vector tick species and the reported number of each tick-borne disease. Notably, the distributions of Ixodes pavlovskyi and Ixodes persulcatus aligned closely with the occurrence of diseases with a northern distribution such as Lyme disease. In contrast, Haemaphysalis flava was the primary and secondary contributor to model performance for the diseases with a southern distribution (Japanese spotted fever and severe fever with thrombocytopenia syndrome, respectively). These correlated species are known vectors of their corresponding diseases. Conclusions This study established the first comprehensive distribution models for 16 tick species in Japan. The maps provided by this study, offering a nationwide overview of tick distributions, serve as basic information for anticipating the occurrence of tick-borne diseases in this region. Graphical Abstract
BMC
@bmc.springernature.com

In a study published in the Journal of Applied Volcanology, the authors debunk 18 common misconceptions about volcanoes and share how proper communication can save lives during natural disasters. 🌍

bit.lyGetting the story straight: common misconceptions around volcanoes and eruptions with case studies of recent events - Journal of Applied VolcanologyThe ability to rapidly disseminate scientific knowledge across the world has never been greater. This is paralleled by the ability of rumors to spread equally far and fast. Popular misconceptions can take root and, without correction, take on the appearance of facts. Commonly misunderstood topics include those with attention-grabbing phrasing (e.g. “Pacific Ring of Fire”, “supervolcanoes”, or “mega-tsunamis”), the intersection of volcanic research with high-profile science topics (climate or human health), aspirational science goals (eruption forecasts), and basic terminology (volcanic ash versus smoke, or magma “chambers”). In this paper, we describe eighteen misconceptions grouped in six themes (seismology, volcanoes and climate, systems and structures, volcanic hazards, timescales, photographs and footage) commonly encountered by volcanologists who are actively engaging with the public and media both during and between eruptions. Each misconception description is accompanied by takeaway points and summaries of recent research to assist the reader with the information necessary to describe the issues. Finally, we present seven case studies where incorrect information was widely shared and counteracted at well-known volcanoes and recent eruptions at Mount Agung (Bali, Indonesia), Mount Etna (Sicily, Italy), Kīlauea (Hawaii, U.S.A.), Tajogaite (La Palma, Spain), La Soufrière (St. Vincent), Taal Volcano (Philippines), and Yellowstone caldera (U.S.A.). This work is intended to help both volcanologists and non-specialists get the story straight, and to effectively communicate processes and scales of volcanism and volcanic hazards, impacts, and risks.
BMC
@bmc.springernature.com

A study published in the Journal of Translational Medicine highlights the therapeutic potential of rapamycin to enhance energy metabolism in patients with chronic fatigue syndrome. #MedSky

bit.lyAssociation of rapamycin treatment with the modulation of purine metabolism, reduced microglial inflammatory responses, improved mitochondrial energy metabolism, and alleviation of fatigue symptoms in ME/CFS subjects: pilot findings from phase-II observational study - Journal of Translational MedicineBackground and rationale In our ongoing phase II observational pilot trial, the compounded formulation of low-dose rapamycin significantly reduced fatigue-related clinical symptoms in ME/CFS subjects. Although the underlying molecular mechanism remains unclear, exploring metabolic pathways involving circulating blood-borne factors is warranted. Recent studies suggest that increased levels of purines may exacerbate oxidative stress in ME/CFS patients. It is not known if rapamycin modulates purine biosynthesis and improves disease symptoms. Methods and results To address, we performed a comprehensive LCMS-based quantification of purine biosynthetic intermediates in plasma from responder cohort of ME/CFS participants, both at baseline (BSL) and after 90 days of rapamycin therapy (T3). Notably, differential regulation was observed in the enzymatic conversion of inosine monophosphate (IMP) to xanthosine-5-monophosphate (XMP) and hypoxanthine (HPX) between BSL and T3 samples. Flow cytometry assays on PBMCs confirmed that rapamycin reduces IMP dehydrogenase activity, thereby limiting the conversion of IMP to XMP. Further analyses, including mitochondrial oxidative stress assessments, Seahorse OCR following purine supplementation, and flow cytometry indicate that altered purine levels can impair mitochondrial energy metabolism, and may contribute to inflammatory processes in microglia. Conclusion Collectively, these findings highlight the therapeutic potential of rapamycin to enhance energy metabolism in patients with ME/CFS. Major limitations There is no placebo group, and molecular results are somewhat biased to responders. Trial registration https://bit.ly/4hIMf5B, NCT06257420. Registered 11 December 2023, https://bit.ly/4hO09U6.
BMC
@bmc.springernature.com

A study in BMC Ecology and Evolution presents the first comprehensive genomic analysis of the endangered Russian desman and finds that the long-term decline in its population is primarily an ancient process driven by natural causes that began millennia before human impact. #Epigenetics

bit.lyGenome sequencing uncovers the history of the Russian desman’s gradual population decline and contributes to the evolutionary history of Talpidae - BMC Ecology and EvolutionBackground The Russian desman (Desmana moschata) is a critically endangered, elusive semi-aquatic mammal. While understanding its historical population dynamics is crucial for conservation, genomic data on its evolutionary and demographic history remain scarce. Results Here, we present a comprehensive whole-genome phylogenetic analysis of Desmana moschata within the Talpidae family, including heterozygosity assessments and inferred population size changes, as determined by PSMC and MSMC analyses. Our results demonstrate that, similar to its closest relative the Pyrenean desman (Galemys pyrenaicus), this species has undergone a long-term population decline preceding significant human influence. The phylogenetic component of our study involved a multigene analysis based on over 2,000 exons, producing a well-resolved, dated phylogeny of the Talpidae family at the tribal level. Conclusions Although anthropogenic factors have undoubtedly contributed to recent declines, our data reveal that the reduction in the desman population is primarily an ancient process driven by natural causes. This has resulted in persistent declines in both effective population size and geographic range and then subsequent evolutionary extinction of ancient taxa with limited adaptive capabilities. These findings lay the groundwork for future genomic conservation studies, incorporating expanded sampling and targeted investigation of specific genomic features.
BMC
@bmc.springernature.com

A study in BMC Veterinary Research explores veterinarians’ perceptions of infectious disease risk in European livestock. Results show variation by country and sector, and highlight awareness gaps for several zoonotic diseases. #MedSky

bit.lyVeterinarians’ perception of livestock infectious disease: results from a five country cross-European survey (2024) - BMC Veterinary ResearchLivestock production accounts for nearly half of all agricultural output globally, but the long-term sustainability of the sector is threatened by a range
BMC
@bmc.springernature.com

Targeted senolytic immunotherapy enhances the efficacy of regenerative interventions and represents a promising strategy for chronic disease management and modifying biological aging, finds a study in the Journal of Translational Medicine. #MedSky

bit.lySynergistic senolytic–regenerative therapy significantly extends healthspan and lifespan - Journal of Translational MedicineBackground Current barriers to achieving radical life extension include the inability to use syngeneic, youthful mesenchymal stem cells (MSCs) and the anti-regenerative effects of senescence-associated secretory phenotype (SASP) factors. We aim to overcome this by a combination approach in which senescent cell burden is reduced utilizing SenoVax™ a dendritic cell based senolytic immunotherapy combined with syngeneic pluripotent stem cell derived MSC. Methods We induced hepatic injury and accelerated aging using two established murine models: carbon tetrachloride (CCl₄) mediated liver injury and doxorubicin induced systemic senescence. Animals were treated with control, SenoVax, pMSCs or the combination. Outcomes included biochemical and histologic indices of liver injury, circulating and tissue biomarkers of senescence (IL-11, YKL-40, IL-6, IL-23 R) and regeneration (Klotho, FGF-2, neo-VEGF, GDF-11), Results Both CCl₄ and doxorubicin induced a robust senescent phenotype characterized by increased pro-inflammatory and pro-fibrotic mediators and downregulation of regenerative biomarkers. Combined senolytic and pMSC therapy outperformed mono therapies and produced clear synergistic benefits, including significant biochemical improvement of liver failure parameters, reversal of accelerated aging features, and restoration of regenerative signaling pathways. Senolytic monotherapy yielded partial improvements, while pMSCs alone showed limited activity in the presence of a high senescent-cell burden. Conclusions These findings support a mechanistic model in which senescent cells and SASP factors directly suppress MSC-mediated tissue repair. Targeted senolytic immunotherapy enhances the efficacy of regenerative interventions and represents a promising combinatorial strategy for chronic disease management and potentially for modifying biological aging itself. Clinical trial number Not applicable.
BMC
@bmc.springernature.com

A study in the Journal of Translational Medicine suggests that persistent fatigue in lupus may be linked to ME/CFS, proposing a framework where immune, metabolic, vascular, and nervous system changes interact to cause long-term symptoms in some patients. #MedSky #neuroskyence

bit.lyPersistent symptom burden in long-standing systemic lupus erythematosus: a subgroup-focused hypothesis for an SLE–ME/CFS research phenotype - Journal of Translational MedicineBackground Despite improved control of inflammatory disease activity in systemic lupus erythematosus (SLE), many patients experience persistent fatigue, impaired physical function, cognitive symptoms, sleep disturbance, and reduced exercise tolerance, including during remission. These symptoms are multifactorial and may not be adequately explained by conventional measures of inflammatory activity. Clinical and biological parallels with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggest that interacting immune, metabolic, vascular, and autonomic mechanisms may contribute to persistent symptom burden in a subgroup of patients with long-standing SLE. Objective To develop a subgroup-focused, non-linear, and testable framework for persistent symptoms in SLE by integrating established SLE evidence with carefully distinguished mechanistic insights from ME/CFS research. Methods This Commentary is based on a targeted, non-systematic literature synthesis of publications identified in PubMed and Web of Science. Evidence was categorized as direct SLE evidence, evidence from ME/CFS, or cross-condition mechanistic inference. Priority was given to human studies, systematic reviews, meta-analyses, and translational research addressing persistent symptoms, autonomic and endothelial dysfunction, mitochondrial and redox alterations, and neurocognitive manifestations. Results We propose a hypothesized SLE–ME/CFS research phenotype characterized by persistent, functionally limiting symptoms despite low inflammatory disease activity or remission. The phenotype includes fatigue lasting at least six months together with post-exertional symptom exacerbation, unrefreshing sleep, cognitive symptoms, and/or orthostatic intolerance, following structured exclusion or assessment of alternative explanations and comorbidities. Direct SLE evidence supports the relevance of residual immune activation, oxidative stress, mitochondrial alterations, endothelial dysfunction, and dysautonomia. Findings from ME/CFS further suggest potentially convergent mechanisms involving impaired cellular energetics, autonomic dysfunction, altered cerebral perfusion, and neuroimmune dysregulation. However, these cross-condition inferences require direct validation in SLE. Conclusions Persistent symptom burden in long-standing SLE may reflect a biologically distinct subgroup in which immune, autonomic, vascular, metabolic, and neurocognitive mechanisms interact dynamically. The proposed framework does not define a new diagnostic entity or fixed disease trajectory but provides a hypothesis-generating basis for prospective longitudinal studies. Multidimensional phenotyping may improve patient stratification, biomarker discovery, and supportive care for patients whose symptoms remain disproportionate to conventional measures of disease activity.
BMC
@bmc.springernature.com

An article in Genome Biology presents dicast: a machine learning method for accurate structural variant detection from short-read sequencing data, with potential benefits for clinical diagnostics and genome-wide association studies. #Epigenetics

bit.lydicast: a machine learning method for accurate structural variant detection from short-read sequencing data - Genome BiologyStructural variants are a common cause of human diseases, but their detection from short-read sequencing remains challenging, despite being the technology underlying most clinical workflows. We present dicast, a machine-learning method that scores SV calls from short-read data using alignment and genomic-context features. dicast is trained on a new multi-technology ground truth built from nine samples, with extensive manual curation. It outperforms existing short-read callers and consensus approaches, recovering substantially more true positives at high precision. We also demonstrate dicast’s applicability for diagnostics, identifying all pathogenic variants in multiple disease cohorts, and 20% more candidate pathogenic deletions than consensus approaches.
BMC
@bmc.springernature.com

A study in Biomarker Research highlights the clinical utility of multigene assay qMIDSV3 as a triage test, sparing most of the oral potentially malignant disorder patients from unnecessary invasive tissue biopsies while accurately identifying oral squamous cell carcinoma cases. #OncoSky

bit.lyINHBA–S100A16 dysregulation enables a non-invasive molecular stratification platform for rapid detection of oral squamous cell carcinoma: results from a large diagnostic case-control study - Biomarker ResearchBackground Early diagnosis of oral squamous cell carcinoma (OSCC) is critical, yet most oral potentially malignant disorders (OPMDs) are benign, and patients frequently undergo unnecessary invasive scalpel biopsies, creating diagnostic delays and patient harm. A rapid, non-invasive molecular diagnostic tool could improve early detection and reduce unnecessary procedures. This study aims to determine whether a previously validated microbiopsy-based multigene assay (qMIDSV2) could be adapted into a rapid, non-invasive brush biopsy test (qMIDSV3) for accurate OSCC detection. A prespecified hypothesis was that qMIDSV3 could distinguish OSCC from low-risk OPMD and contralateral normal mucosa with high diagnostic sensitivity. Methods This prospective diagnostic case-control study validated a multigene mRNA test (qMIDSV3) for OSCC detection using 1090 oral brush biopsies from 545 patients. Each patient provided paired brush biopsies from oral lesion and contralateral non-lesion mucosa, including OSCC (n = 443), oral leukoplakia (OL; n = 63), and oral lichen planus (OLP; n = 39). qPCR quantified mRNA levels of four genes (INHBA, S100A16, YAP1, POLR2A) from each brush biopsy, and an algorithm generated a malignancy index for cancer risk stratification. Results qMIDSV3 distinguished OSCC from OL and OLP with AUC 0.975, sensitivity 95.7%, specificity 95.1%, and overall accuracy 95.5%. False-positive and false-negative rates were 4.9% and 4.3%, demonstrating high specificity for detecting malignant cells rather than premalignant or inflammatory lesions. Conclusions Our findings highlight the clinical utility of qMIDSV3 as a rapid case-finding or triage test, potentially sparing over 90% of low-risk OPMD patients from unnecessary invasive tissue biopsies while accurately identifying OSCC cases. Non-invasive brush biopsy allows safe, repeatable sampling for long-term surveillance with minimal patient harm and enhancing early oral cancer detection. By reducing unnecessary scalpel biopsies and specialty referrals, qMIDSV3 provides a molecularly guided and rapid triage pathway.
BMC
@bmc.springernature.com

A study in BMC Cancer suggests that Lip-TDM is a non-infectious, NK-activating, anti-tumor agent which can be administered intraperitoneally or systemically in bladder cancer as a potential alternative to BCG. 🧬 #OncoSky #CanSky

bit.lySystemic administration of liposomal trehalose dimycolate induces NK1.1⁺ cell mediated antitumor immunity in bladder cancer - BMC CancerIntravesical Bacillus Calmette-Guerin (BCG) administration is the most effective immunotherapy for bladder cancer, but live BCG bacteria may cause serious
BMC
@bmc.springernature.com

Low-proteinuric diabetic kidney disease with sustained rapid kidney function decline is associated with endothelial and tubular transcriptional alterations without uniform advanced glomerular filtration-barrier lesions, finds a study in Cardiovascular Diabetology. #MedSky

bit.lySingle-cell profiling identifies endothelial and tubular transcriptional alterations associated with rapid kidney function decline in low-proteinuric diabetic kidney disease - Cardiovascular DiabetologyBackground Some patients with diabetic kidney disease (DKD) experience rapid loss of kidney function despite minimal proteinuria; however, the cellular and pathological features associated with this phenotype remain unclear. In this study, we aimed to characterize the cell-specific transcriptional and pathological alterations associated with sustained rapid kidney function decline in low-proteinuric DKD. Methods We performed single-cell RNA sequencing of kidney biopsy specimens from three patients with low-proteinuric DKD with sustained rapid kidney function decline (DKD-RD), defined by a urinary protein-to-creatinine ratio < 0.15 g/g creatinine, an absolute estimated glomerular filtration rate (eGFR) slope < − 5 mL/min/1.73 m2/year, and an annual relative eGFR decline > 10% over at least 2 years. Non-diabetic kidney tissues from two nephrectomy specimens served as controls. Donor-level pseudobulk differential-expression and pathway analyses were integrated with histopathological and ultrastructural findings. We also conducted an exploratory comparison with a published classical/proteinuric DKD dataset. Results Analysis of 35,352 cells showed lower expression of genes related to endothelial differentiation, vascular integrity, and vascular development in DKD-RD, accompanied by higher NOX4 expression and reactive oxygen species-related programs. Tubular cells exhibited segment-specific remodeling, characterized by increased expression of CUBN and LRP2 in proximal tubular cells alongside reduced expression of several sodium-dependent solute transporter genes. Glomerular lesions were mild and heterogeneous; electron microscopy showed focal endothelial abnormalities in some cases, while podocyte foot processes were largely preserved. Immune cell analysis revealed no evidence of a uniform inflammatory activation state. Comparison with a published classical/proteinuric DKD dataset showed limited concordance in disease-associated transcriptional patterns. Conclusions Low-proteinuric DKD with sustained rapid kidney function decline is associated with endothelial and tubular transcriptional alterations without uniform advanced glomerular filtration-barrier lesions. These findings raise the possibility that this phenotype has a transcriptional profile distinct from that of classical/proteinuric DKD, although confirmation in larger cohorts is needed. Graphical abstract
BMC
@bmc.springernature.com

Low telomere length and low skeletal muscle mass are jointly associated with greater risk of all-cause mortality, especially among younger individuals and women, finds a study in Nutrition & Metabolism. #MedSky

bit.lyJoint association of leukocyte telomere length and muscle mass with mortality: a longitudinal nationwide population-based study - Nutrition & MetabolismBackground Telomere and skeletal muscle mass are independent risk factors for mortality, but their joint effects have not been fully elucidated. Accelerated aging and unhealthy skeletal muscle are growing public health concerns in an aging society. We sought to investigate the joint effects of leukocyte telomere length (LTL) and muscle mass with mortality in the National Health and Nutrition Examination Survey (NHANES) 1999–2002. Methods Telomere length was determined by quantitative polymerase chain reaction (qPCR), and skeletal muscle mass was measured by dual-energy X-ray absorptiometry (DXA), and expressed as limb skeletal muscle mass index (ASMI). The Cox proportional hazards regression model was used to analyze the association between it and all-cause mortality. Results A total of 4668 individuals (mean age 48.43 years, female 48.9%) were included. During a median follow-up of 16.92 years, there were 1,138 deaths (cardiovascular disease,288). 2,833 (60.7%) had neither lower LTL nor lower ASMI, 1,226 (26.3%) had only lower LTL, 364 (7.8%) had only lower ASMI, and 245 (5.2%) had both lower LTL and lower ASMI. Compared to the LTL normal/ASMI normal group, the LTL lower/ASMI normal, LTL normal/ASMI lower, and LTL lower/ASMI lower groups demonstrated increased all-cause mortality with adjusted hazard ratios (HRs) of 1.31 (95% confidence interval [CI]: 1.08, 1.58), 1.79 (95% CI: 1.44, 2.23), and 1.64 (95% CI: 1.32, 2.04), respectively. Similarly, participants with LTL lower and/or ASMI lower had a higher risk of cardiovascular disease mortality (HRs, 1.56–1.99) than those with LTL normal/ASMI normal. Further stratified analyses showed that the coexistence of LTL lower and ASMI lower additively increased the risk of all-cause mortality in younger participants (< 60 years) (HR 2.38, 95% CI: 1.22–4.65) and in women (HR 1.94, 95% CI: 1.28–2.96). In contrast, among older participants and men with LTL normal/ ASMI lower, the risk of all-cause mortality was higher than among those with LTL lower/ASMI lower. Conclusions Low telomere length and low skeletal muscle mass were jointly associated with greater risk of all-cause mortality, especially among younger individuals and women.
BMC
@bmc.springernature.com

A study in BMC Primary Care explores the influencing factors towards job satisfaction among medical assistants in Germany. #MedSky

bit.lyJob satisfaction among medical assistants in German general practice: a qualitative study of social, structural and personal factors - BMC Primary CareBackground Medical assistants (MAs) are pivotal for access, coordination, and continuity in German primary care, yet workforce shortages and limited attention in research and policy persist. Prior studies quantify dissatisfaction and attrition drivers but offer little insight into how MAs who remain in practice experience job satisfaction. This study explores the social, personal and structural factors shaping MA job satisfaction in everyday work. Methods We conducted 14 semi-structured telephone interviews with MAs from German general practices (November–December 2023), recruited via the research networks, the professional association (VMF e.V.) and teaching practice lists. Interviews lasted approximately 60 min and the interview guide covered practice organisation, communication, working conditions, and job satisfaction. Interview data were analysed using a rapid qualitative analysis approach. Key statements were summarised in a structured matrix aligned with interview topics and compared across cases. Categories were developed iteratively through team-based analysis and consensus meetings, resulting in three overarching domains influencing job satisfaction: social (team dynamics and leadership), personal (identity and motivation), and structural (roles, pay, digital infrastructure, and staffing). Ethics approval: University of Duisburg-Essen, Medical Faculty (23-11354-BO; 14 Nov 2023). Participants provided written consent and received a €75 expense allowance. Results Three interrelated domains influenced job satisfaction. (1) Social (team dynamics/leadership): Experiences ranged from respectful, supportive leadership to inattentive or inconsistent supervision; structured feedback and clear communication reduced errors and strain, while gossip/bullying and informal word-of-mouth channels increased frustration. (2) Personal (identity/motivation): Satisfaction peaked when responsibilities matched training and skills were recognised and used. Emotional labour, especially in patient communication, was salient. Intrinsic motivation remained important, yet financial pressures increasingly shaped commitment. (3) Structural (roles, pay, digital, staffing): Continuing education (CE) was valued, but many courses were only minimally reflected in pay scales and CE gains were not consistently implemented in contracts or roles. Pay was widely perceived as inadequate relative to responsibility, particularly during the pandemic. Digital infrastructure was often unreliable, especially in rural areas. Understaffing and irregular breaks and overtime contributed to overload. Substitution with non-clinical staff was viewed critically for clinically consequential tasks. Discussion MA job satisfaction is co-produced by social, personal and structural conditions; the most salient burdens were emotional labour in patient contact and a misalignment between responsibility and compensation. Retention improves where leadership and communication routines are supportive, continuing education is translated into role/grade changes and visible use, and existing collective agreements are implemented consistently. Rather than new pay models, pragmatic fixes are needed, certificate-to-grade mapping, transparent role profiles, inflation-sensitive supplements, alongside dependable digital support. Delegation to non-clinical staff should exclude clinically consequential tasks (e.g. triage or telephone decisions). Conclusion MA job satisfaction in German primary care emerges from interacting social, personal and structural conditions. Targeted actions across these domains are needed to sustain workforce capacity and patient-centred care.
BMC
@bmc.springernature.com

When a blood smear tells the story: diagnosing fatal secondary hemophagocytic lymphohistiocytosis in pregnancy This Behind the Paper post from Journal of Medical Case Reports, the authors emphasise communication between the lab and the bedside for effective clinical care. #MedSky #Academicsky

bit.lyWhen a Blood Smear Tells the Story: Diagnosing Fatal secondary hemophagocytic lymphohistiocytosis in PregnancyA 20-year-old woman in rural Ethiopia presented with fever in her third trimester. She died within hours. Looking back at her blood smear, the answer had been there all along.
BMC
@bmc.springernature.com

Resistance training can reduce body fat percentage while simultaneously improving grip strength, representing an effective management strategy for sarcopenic obesity, reports a systematic review and meta-analysis in BMC Geriatrics. bit.ly/4rClu64 #MedSky

BMC
@bmc.springernature.com

A study in BMC Neurology reveals that Alice in Wonderland syndrome, a neuropsychiatric disorder marked by sensory perception distortions and altered body image, is prevalent in younger adults with persistent headaches post-COVID-19, particularly those with a migraine history. #MedSky

bit.lyExploring Alice in Wonderland syndrome in adults with persistent headache after COVID-19: a cross-sectional study in Latin America - BMC NeurologyBackground Alice in Wonderland syndrome (AIWS) is a neuropsychiatric disorder characterized by sensory perception distortions, including altered body image perception and distortions of shape, size, motion, color, and speed. Migraine and infectious diseases are among the most common etiologies of AIWS. However, it has not been studied in individuals with persistent headache after COVID-19. Methods This cross-sectional study included a subset of individuals with AIWS symptoms derived from a survey conducted in Latin America to identify adults with persistent headache after COVID-19. For data analysis, AIWS individuals were characterized by sex and analyzed using univariable tests. Subsequently, the entire study cohort was stratified into two groups: the AIWS group and the non-AIWS group. Binomial logistic regression using the backward stepwise selection method was performed to identify the factors associated with AIWS after COVID-19. Results Out of 421 participants with persistent headache after COVID-19, 106 (25.2%) reported at least one AIWS symptom. The AIWS group was significantly younger (median age 36 vs. 39 years, p = 0.011) and had a higher proportion of pre-existing migraine (40.6% vs. 29.5%, p = 0.035) compared to the non-AIWS group. The most common post-COVID-19 AIWS symptoms were time distortion (32.1%), derealization/depersonalization (24.5%), and hyperchromatopsia (20.8%). Logistic regression analysis revealed that experiencing any AIWS symptom during acute COVID-19 was the strongest predictor for post-acute AIWS (OR = 9.937, 95% CI = 5.603–17.62, p <0.001). Other significant predictors included phonophobia (OR = 2.322, 95% CI = 1.288–4.185, p = 0.005) and depressive symptoms (OR = 1.937, 95% CI = 1.099–3.413, p = 0.022) during acute COVID-19. Conclusion In this cohort, AIWS was a notable feature in adults with persistent headache after COVID-19, particularly in younger individuals with a history of migraine. Experiencing AIWS symptoms during acute infection increased the odds of post-acute AIWS symptoms nearly tenfold, suggesting SARS-CoV-2 may be a potent trigger. Clinicians should be aware of this association and screen for perceptual disturbances in patients with post-COVID-19 neurological sequelae.
BMC
@bmc.springernature.com

A study published in BMC Biotechnology shows how AI can reliably spot poisonous mushrooms using an explainable deep learning model with a 95.67% accuracy, thus preventing misidentifications and promoting food safety. #MedSky #STS

bit.lyExplainable deep learning ensemble framework for accurate classification of wild poisonous mushroom species - BMC BiotechnologyThis study introduces an explainable deep learning framework for the accurate classification of wild poisonous mushroom species, contributing to food safet
BMC
@bmc.springernature.com

A study in BMC Medical Genomics uses integrated miRNA/mRNA profiling to uncover distinct molecular signatures in acute ischemic stroke, highlights key regulatory miRNAs and their targets, and provides insights into early post‑stroke molecular responses. #MedSky #Epigenetics

bit.lyDiscovery of new MicroRNAs and their mRNA targets in patients with acute ischemic stroke - BMC Medical GenomicsIn this study, we applied microarray, bioinformatics, and qRT-PCR techniques to identify miRNAs and their target genes in plasma obtained from acute ischem
BMC
@bmc.springernature.com

A Review published in Translational Neurodegeneration summarizes current knowledge on the physiological regulation of autophagy in the brain and critically examines its involvement in Parkinson’s disease pathogenesis. #MedSky

bit.lyThe emerging role and therapeutic targeting of autophagy-lysosome pathway in the pathogenesis of Parkinson’s disease - Translational NeurodegenerationParkinson’s disease (PD) is a progressive neurodegenerative disorder characterized by dopaminergic neuron loss and the accumulation of misfolded α-synuclein, yet the underlying mechanisms remain incompletely understood. Over the past two decades, genetic discoveries have highlighted the convergence of multiple familial PD genes on the autophagy-lysosome pathway (ALP), a key cellular system responsible for the degradation and recycling of intracellular components. Recent studies have further revealed that components of the ALP not only mediate the clearance of α-synuclein aggregates but also, under certain pathological conditions, contribute to their propagation via lysosomal exocytosis or secretory autophagy. The precise functions of autophagy are highly context-dependent, with neuronal and glial cells exhibiting distinct ALP dynamics that shift with development, stress, and aging. In this review, we summarize current knowledge on the physiological regulation of autophagy in the brain and critically examine its involvement in PD pathogenesis, incorporating mechanistic insights from familial models and emerging evidence from sporadic PD. We also explore translational implications, focusing on efforts to identify ALP-related biomarkers in cerebrospinal fluid and urine, and on the therapeutic potential of modulating ALP activity. Although the causality between ALP dysfunction and PD remains elusive, mounting evidence supports its contribution to disease progression, particularly through impaired lysosomal homeostasis and disrupted intracellular trafficking. Future research should aim to define cell type-specific ALP alterations, clarify the bidirectional interactions between α-synuclein and autophagic machinery, and develop in vivo tools to monitor autophagy activity and secretory signatures. A deeper understanding of these processes will be crucial for refining PD models, discovering robust fluid biomarkers, and designing targeted therapies capable of modifying disease trajectory.