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- Health & MedicineOpen access
Abstract Background Acute mesenteric ischemia (AMI) remains associated with high mortality despite prompt revascularization, suggesting that downstream ischemia–reperfusion injury contributes to poor outcomes. However, the microvascular mechanisms underlying this process are not...
- BiologyOpen access
Quantification of absolute IgG concentration in bat sera
Abstract Bats are endowed with a remarkable capacity to withstand important pathogens through evolutionary adaptations in their immune systems. Antibodies are essential component of the adaptive immune response and serve as a crucial biomarker, indicating both present and past pa...
- Health & MedicineOpen access
The Costs of Parkinson's Disease in Europe: Results of the Costs of Illness in Neurology Initiative
Abstract Background Parkinson's disease (PD) is the second most common neurodegenerative disease. It imposes substantial and growing burden on patients, families, and caregivers and reduces quality of life. The disability and care needs associated with PD carry economic ramificat...
- Health & MedicineOpen access
Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome
BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...
- Health & MedicineOpen access
Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids
BACKGROUND: Lung neuroendocrine tumours (NETs, also known as carcinoids) are rapidly rising in incidence worldwide but have unknown aetiology and limited therapeutic options beyond surgery. The current WHO classification, based on mitotic count and presence or absence of necrosis...
- Health & MedicineOpen access
The importance of classifying central hypopneas: a call to action
Obstructive and central sleep apnea share pathophysiologic features and often coexist within individual patients. There is general agreement on the criteria for scoring obstructive and central apneas but less guidance and clarity on how and when to classify obstructive and centra...
- BiologyOpen access
Contribution of mechanical forces in multiciliated cell differentiation
Abstract Multiciliated cells, through the coordinated beating of motile cilia, are vital for moving fluids in the brain and mucus in the airways and in the reproductive organs. Their dysfunction leads to diseases, associated with chronic airway infections, subfertility and ventri...
- BiologyOpen access
Multimodal models capable of imputing diverse data used in single-cell biology studies provide potential foundational opportunities in clinical practice. However, patient data uniquely comprise longitudinal mosaic measurements that reflect underlying physiological dynamics and ex...
- Health & MedicineOpen access
ABSTRACT SRF fusion genes drive the pathogenesis of muscle-related soft tissue tumors, including subsets of perivascular tumors, inflammatory myofibroblastic tumor, and rhabdomyosarcoma. SRF encodes Serum Response Factor, a well-characterized transcription factor that regulates m...
- BiologyOpen access
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder. Unlike genetics and gut dysbiosis, ASD appears to be homogeneous when considering tryptophan metabolism. Following these findings, we found that ASD was associated with the miscompartmentalization of t...
- Health & MedicineOpen access
The acceptability and effectiveness of the invitation strategies using self-sample devices for cervical cancer screening are critical before further implementation. In France, participation of older women in cervical cancer screening remains low, and studies evaluating outreach s...
- Health & MedicineOpen access
Abstract Background Cambodia faces a high and complex burden of zoonotic, vector-borne, vaccine-preventable and environmentally transmitted infections, driven by intensive human–animal–environment interactions. However, nationally representative data integrating human, animal and...
- Health & MedicineOpen access
CLEC-1 promotes early IFN response in cDC1s and favors immune dysregulation during sepsis in mice
Sepsis is a life-threatening organ dysfunction caused by a dysregulated host immune response, characterized by both hyperinflammation and immunosuppression. Here, we show that the absence of the C-type lectin receptor CLEC-1—expressed particularly by lung cDC1s—improves mouse rec...
- Biology
Huntingtin, signaling endosomes and neuronal survival in health and Huntington disease
The axonal transport of organelles mediates several functions throughout the lifespan of neurons. Over the past years, the role of endosomes, a specific type of trafficking organelle, has been extensively investigated for their increasing relevance during development, maturation...
- BiologyOpen access
The rod bipolar cell pathway contributes to surround responses in OFF retinal ganglion cells
Abstract Sensory neurons can be influenced by stimuli beyond their receptive field center, yet the mechanisms underlying this surround modulation remain poorly understood. In the retina, many OFF ganglion cells exhibit responses to ON stimulation outside their receptive field cen...
- BiologyOpen access
Abstract Sex differences in cancers arising in non-reproductive organs are widespread. While sex hormones and the intrinsic sexual identity of cancer cells are well-established contributors, it is unknown whether other mechanisms are involved. Here, we reveal an unexpected source...
- Biology
ABSTRACT Recently, the application of deep learning to structural data deposited in the Protein Data Bank has enabled the reliable and accurate prediction of 3D folded structures of proteins from their sequences. However, this approach is not applicable to highly dynamic proteins...
- Health & MedicineOpen access
Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...
- BiologyOpen access
ABSTRACT Recently, the application of deep learning to structural data deposited in the Protein Data Bank has enabled the reliable and accurate prediction of 3D folded structures of proteins from their sequences. However, this approach is not applicable to highly dynamic proteins...
- Health & MedicineOpen access
Abstract Post-treatment HIV controllers (PTC) offer a unique opportunity to uncover the determinants of durable remission after antiretroviral therapy (ART) interruption. Here, using six PTC and six post-treatment non-controllers from the pVISCONTI study in cynomolgus macaques, w...