9,274 results match your criteria: "Section of Neurobiology; The University of Texas at Austin; Austin[Affiliation]"

Article Synopsis
  • Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
  • Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
  • The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
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Introduction: Dodecafluoropentane emulsion (DDFPe) administration has previously demonstrated improved gas exchange in single-organ perfusion models. This could translate to prevention of brain injury in cardiac arrest.

Methods: We induced cardiac arrest in 12 pigs, performing CPR after 5-minute downtime.

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Artificial intelligence, machine learning, and deep learning are increasingly being used in all medical fields including for epilepsy research and clinical care. Already there have been resultant cutting-edge applications in both the clinical and research arenas of epileptology. Because there is a need to disseminate knowledge about these approaches, how to use them, their advantages, and their potential limitations, the goal of the 2023 Merritt-Putnam Symposium and of this synopsis review of that symposium has been to present the background and state of the art and then to draw conclusions on current and future applications of these approaches through the following: (1) Initially provide an explanation of the fundamental principles of artificial intelligence, machine learning, and deep learning.

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Renal glomeruli have traditionally been studied by micrometer-scale optical microscopy to interrogate overall physiology or molecular distributions and by nanoscale electron microscopy to interrogate the ultrastructure of thin sections. While these approaches are powerful, they have been limited in their ability to obtain detailed views of the glomeruli as holistic 3D functional units. To fill this knowledge gap, we have developed a novel pipeline for imaging, reconstructing, and analyzing whole mouse glomeruli at 100 nm resolution using super-resolution fluorescence microscopy.

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Behavioral and Biological Bases of Herding and Conformity.

Basic Clin Neurosci

July 2024

Department of Quantitative Psychology and Economics (QPE), University of Warsaw, Warsaw, Poland.

Humans are inherently complex creatures, and this issue became even more complicated when they decided to construct social relationships. Research into human behavior is an interdisciplinary and multifaceted endeavor studied by various disciplines, such as psychology, economics, sociology, anthropology, and neurosciences. Today, with the cooperation of researchers in different fields, it is possible to link the cellular dynamic of neurons to brain function and human behavior.

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Article Synopsis
  • Genetic Basis of Migraine
  • : Migraine is largely polygenic, with many genetic variants identified through genome-wide association studies. Key mutations are linked to the TRPM8 channel, which senses cold but may have different activation mechanisms related to migraine.
  • Role of Artemin and GFRα3
  • : The study explores how the neurotrophic factor artemin and its receptor GFRα3 influence migraine-related pain through their effects on TRPM8, potentially affecting cold sensitivity and pain responses in migraine models.
  • Preclinical Findings
  • : Experiments on mice show that GFRα3 is crucial for mechanical sensitivity in migraine, as blocking artemin reduces migraine-like symptoms, highlighting its significance in
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Aim: To understand the steps in the decision-making process regarding pain assessment and management for people living with dementia from the perspectives and experiences of people with dementia, formal and informal carers.

Methods: A systematic review was conducted. Seven English databases were searched, including PubMed, Psychological Information Database, Cochrane Library, Scopus, Cumulative Index of Nursing and Allied Health Literature, Web of Science, and ProQuest, using synonyms and derivatives for "dementia", "cognitive impairment", "pain", "pain assessment", "pain management", "decision", "decision support", and "decision-making".

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Background: Anticoagulation in atrial fibrillation (AF) increases the risk of major bleeding. No predictive model has hitherto provided estimates of the absolute risk for individual patients.

Aim: To predict the individual 1-year risk of major bleeding in patients with AF taking anticoagulants and evaluate the importance of individual risk factors.

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The cognitive reserve (CR) hypothesis posits that individuals can differ in how their brain function is disrupted by pathology associated with aging and neurodegeneration. Here, we test this hypothesis in the continuum from cognitively normal to at-risk stages for Alzheimer's Disease (AD) to AD dementia using longitudinal data from 490 participants of the DELCODE multicentric observational study. Brain function is measured using task fMRI of visual memory encoding.

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Purpose: In this study, a comprehensive analysis of costs of chronic kidney disease (CKD) was performed, to understand factors associated with the economic burden of the disease in a multicentre international framework.

Methods: The impact on costs of demographics, socio-economics, clinical, and functional variables was tested in 2204 subjects aged 75 years or more attending outpatient clinics in Europe using a multicentre 2-year prospective cohort study. By means of collected resources consumption and unit cost data a comprehensive cost database was built and then investigated using multilevel regression modeling.

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Article Synopsis
  • - O-GlcNAcylation is a crucial protein modification in cells regulated by two enzymes, OGT and OGA, and is linked to intellectual disabilities based on recent research.
  • - A study using fruit flies with a specific mutation in the OGT enzyme revealed that low levels of O-GlcNAcylation cause issues with synapse formation and unstable sleep patterns.
  • - These negative effects can be partially reversed by adjusting OGA levels, indicating that a proper balance between OGT and OGA is vital for healthy nerve development and function.
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  • - Membrane contact sites (MCSs) help organelles coordinate activities, but their small size and dynamic nature make them hard to study with traditional imaging methods.
  • - Researchers developed chemogenetic reporters that enhance the imaging of MCSs in both lab and living systems, enabling the exploration of complex biological questions.
  • - They introduced a new biosensor, PRINCESS, which can detect MCSs and measure calcium dynamics simultaneously, revealing a mechanism where calcium signaling affects the positioning of the endoplasmic reticulum and mitochondria.
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Otolith organs in the inner ear and neuromasts in the fish lateral-line harbor two populations of hair cells oriented to detect stimuli in opposing directions. The underlying mechanism is highly conserved: the transcription factor EMX2 is regionally expressed in just one hair cell population and acts through the receptor GPR156 to reverse cell orientation relative to the other population. In mouse and zebrafish, loss of Emx2 results in sensory organs that harbor only one hair cell orientation and are not innervated properly.

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Background: Within the contemporary policy turn towards co-production and co-research in Sweden, older people, practitioners and researchers alike have expressed uncertainty about how to undertake co-research. Moreover, scepticism persists about the merits and contributions of co-research and co-production to research and service development. In this paper, we aim to describe a co-research model developed with older care-experienced lay co-researchers and explore the utility of our model's outcomes to social care research and practice.

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Distribution and calcium signaling function of somatostatin receptor subtypes in rat pituitary.

Cell Calcium

December 2024

Section on Cellular Signaling, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda. USA. Electronic address:

The somatostatin (SST) receptor family controls pituitary hormone secretion, but the distribution and specific roles of these receptors on the excitability and voltage-gated calcium signaling of hormone producing pituitary cells have not been fully characterized. Here we show that the rat pituitary gland expressed Sstr1, Sstr2, Sstr3, and Sstr5 receptor genes in a cell type-specific manner: Sstr1 and Sstr2 in thyrotrophs, Sstr3 in gonadotrophs and lactotrophs, Sstr2, Sstr3, and Sstr5 in somatotrophs, and none in corticotrophs and melanotrophs. Most gonadotrophs and thyrotrophs spontaneously fired high-amplitude single action potentials, which were silenced by SST without affecting intracellular calcium concentrations.

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The rise of cochlear gene therapy.

Mol Ther

November 2024

Translational Hearing Research, Tübingen Hearing Research Center, Department of Otolaryngology - Head and Neck Surgery, University of Tübingen, Tübingen, Germany; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. Electronic address:

Recent evidence provides strong support for the safe and effective use of gene therapy in humans with hearing loss. By means of a single local injection of a set of adeno-associated virus (AAV) vectors, hearing was partially restored in several children with neurosensory nonsyndromic autosomal recessive deafness 9 (DFNB9), harboring variants in the OTOF gene. Current research focuses on refining endoscopic and transmastoid injection procedures to reduce risks of side effects, as emerging evidence suggests bidirectional fluid exchanges between the ear and the brain.

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The microRNA profile of brain-derived extracellular vesicles: A promising step forward in developing pharmacodynamic biomarkers for psychiatric disorders.

Eur Neuropsychopharmacol

January 2025

Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich 80336, Germany; Department of Psychiatry and Behavioral Sciences, Norton College of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

MicroRNAs (miRNAs) have the potential to affect drug metabolism, and some drugs affect cellular miRNA expression. miRNAs are found inside extracellular vesicles (EVs), and the profile of these EV-miRNAs can change across different diseases and disease states. Consequently, in recent years EV-miRNAs have attracted increasing attention as possible non-invasive biomarkers.

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Extracellular vesicles (EVs) have gained significant attention as pathology mediators and potential diagnostic tools for neurodegenerative diseases. However, isolation of brain-derived EVs (BDEVs) from tissue remains challenging, often involving enzymatic digestion steps that may compromise the integrity of EV proteins and overall functionality. Here, we describe that collagenase digestion, commonly used for BDEV isolation, produces undesired protein cleavage of EV-associated proteins in brain tissue homogenates and cell-derived EVs.

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Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the progressive loss of motor neurons, with genetic and environmental factors contributing to its complex pathogenesis. Dysregulated immune responses and altered energetic metabolism are key features, with emerging evidence implicating the gut microbiota (GM) in disease progression. We investigated the interplay among genetic background, GM composition, metabolism, and immune response in two distinct ALS mouse models: 129Sv_G93A and C57Ola_G93A, representing rapid and slow disease progression, respectively.

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Visual deprivation causes enhanced eye growth and the development of myopia, which is associated with a change in the arrangement of collagen fibers within the sclera. A second harmonic generation (SHG) microscope has been used to image the collagen fibers of unstained scleral punches from the posterior part of chicken eyes. We aimed to analyze the fibrous scleral tissue and quantify the changes in collagen organization in relation to the extent of induced deprivation myopia.

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We studied which retinal area controls short-term axial eye shortening when human subjects were exposed to + 3.0D monocular defocus. A custom-built infrared eye tracker recorded the point of fixation while subjects watched a movie at a 2 m distance.

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Spatially resolved gene signatures of white matter lesion progression in multiple sclerosis.

Nat Neurosci

December 2024

Department of Biomedical Sciences, Section Molecular Neurobiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and progressive neurodegeneration. To understand MS lesion initiation and progression, we generate spatial gene expression maps of white matter (WM) and grey matter (GM) MS lesions. In different MS lesion types, we detect domains characterized by a distinct gene signature, including an identifiable rim around active WM lesions.

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Article Synopsis
  • Hypomyelinating leukodystrophies are genetic disorders with severe myelin deficiency, resulting in developmental delays, nystagmus, hypotonia, spasticity, and ataxia.
  • Variants in the HSP60 chaperonin protein have been linked to various neurological disorders, and recent findings highlight a group of patients with new heterozygous variants related to a unique hypomyelinating disorder.
  • Clinical evaluations and genetic assays in a study of three patients showed early symptoms of nystagmus and hypotonia that progressed to spasticity, confirming that defective chaperonin assembly likely contributes to these disorders.
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  • - Restless legs syndrome (RLS) disrupts sleep and lowers quality of life, leading researchers to develop the RLS-Self-care Behaviour questionnaire (RLS-ScBq) to measure self-care activities for patients with this condition.
  • - The study with 788 patients assessed the questionnaire's validity and reliability, finding it useful for evaluating physical and mental self-care actions in managing RLS.
  • - Results indicated a two-factor solution with decent internal consistency, suggesting the RLS-ScBq could help healthcare professionals understand and promote self-care in RLS patients.
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Article Synopsis
  • Medulloblastoma and ependymoma are common types of brain tumors in children, and this study analyzes their molecular differences using bulk RNA sequencing data from a large number of tumor samples.
  • The researchers processed the data to create a unified landscape, identifying distinct gene expression profiles and molecular characteristics within the tumors, particularly highlighting two compartments in ependymoma and subtypes in medulloblastoma.
  • The findings provide a valuable resource for discovering new biomarkers and improving diagnostic accuracy, and the data can be explored using the interactive platform Oncoscape for better patient classification in future research.
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