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At least 37 records · Page 2Linked to original sources

Unifying multimodal single-cell data with a mixture-of-experts β-variational autoencoder framework.

Multimodal single-cell assays profile complementary layers of cell state, but integration is complicated by modality mismatch, sparsity, and uneven cohort coverage. Here, we present Unified Variational Inference (UniVI), a scalable mixture-of-experts β-variational autoencoder that learns a shared latent space while preserving modality-specific structure. UniVI couples modality-specific encoders/decoders with a shared latent prior and a symmetric cross-modal alignment objective, enabling consistent integration of paired measurements without curated feature-link graphs or preannotated reference atlases; optional supervised heads can be added when labels are available. Across paired RNA-protein (CITE-seq) and RNA-chromatin (10x Genomics Multiome, SHARE-seq) data spanning human PBMCs and mouse back skin-a nonhematopoietic tissue with continuous differentiation hierarchies-UniVI produces coherent embeddings, improves label transfer, and enables cross-modal reconstruction and denoising. Extending to trimodal measurements, UniVI maintains robust three-way alignment among RNA, chromatin accessibility, and surface proteins (TEA-seq), and accommodates DNA methylation in a paired scNMT-seq mouse gastrulation proof-of-concept under beta-binomial likelihoods. Performance degrades gracefully under severe cell type imbalance and in the presence of modality-exclusive populations. In an acute myeloid leukemia mosaic design, a paired RNA-protein bridge anchors independent RNA-only and protein+genotype cohorts, revealing genotype-associated neighborhoods that sharpen with mutation-aware fine-tuning. UniVI thus provides a flexible, interpretable framework for multimodal integration across paired, trimodal, and mosaic study designs and supports practical reference-to-query projection in partially observed studies.

Journal Article↗

High-resolution anatomy from in situ human brain.

We have generated a spatially accurate, high-resolution three-dimensional (3D) volume of brain anatomy from cryosectioned whole human head. The head of a female cadaver was cryosectioned on a heavy duty cryomacrotome (PMV, Stockholm Sweden) modified for quantitative digital image capture. Serial images (1024(2), 24-bit) were captured directly from the cryoplaned specimen blockface in 500-micron intervals and reconstructed to a 3D data volume. Data were placed into the Talairach coordinate system to create a volume of brain anatomy for atlas reference. We resampled the volume at 500 microns along the sagittal, coronal, and horizontal planes and enhanced the images by digitally editing the background. The spatial resolution of the original digitized images provided sufficient anatomic detail to clearly delineate gray and white matter and neural structures, including major fiber pathways, subthalamic nuclei, and laminae. We developed a compact disk and controlling software program to enable the viewer to select planes of orientation, display, and copy individual to sections at higher resolution. Animation proved useful in the conveyance of system anatomy as structures are shown traversing through the neuroaxis. Postmortem cryosectioning paired with this computerized presentation allowed the complete 3D volume data to be distributed and shared as an educational, clinical, and research resource.

Aged↗

Quantitative architectural analysis: a new approach to cortical mapping.

Recent progress in anatomical and functional MRI has revived the demand for a reliable, topographic map of the human cerebral cortex. Till date, interpretations of specific activations found in functional imaging studies and their topographical analysis in a spatial reference system are, often, still based on classical architectonic maps. The most commonly used reference atlas is that of Brodmann and his successors, despite its severe inherent drawbacks. One obvious weakness in traditional, architectural mapping is the subjective nature of localising borders between cortical areas, by means of a purely visual, microscopical examination of histological specimens. To overcome this limitation, more objective, quantitative mapping procedures have been established in the past years. The quantification of the neocortical, laminar pattern by defining intensity line profiles across the cortical layers, has a long tradition. During the last years, this method has been extended to enable a reliable, reproducible mapping of the cortex based on image analysis and multivariate statistics. Methodological approaches to such algorithm-based, cortical mapping were published for various architectural modalities. In our contribution, principles of algorithm-based mapping are described for cyto- and receptorarchitecture. In a cytoarchitectural parcellation of the human auditory cortex, using a sliding window procedure, the classical areal pattern of the human superior temporal gyrus was modified by a replacing of Brodmann's areas 41, 42, 22 and parts of area 21, with a novel, more detailed map. An extension and optimisation of the sliding window procedure to the specific requirements of receptorarchitectonic mapping, is also described using the macaque central sulcus and adjacent superior parietal lobule as a second, biologically independent example. Algorithm-based mapping procedures, however, are not limited to these two architectural modalities, but can be applied to all images in which a laminar cortical pattern can be detected and quantified, e.g. myeloarchitectonic and in vivo high resolution MR imaging. Defining cortical borders, based on changes in cortical lamination in high resolution, in vivo structural MR images will result in a rapid increase of our knowledge on the structural parcellation of the human cerebral cortex.

Algorithms↗

Morphanalysis of craniofacial dysharmony.

The first stage in the morphanalysis of craniofacial dysharmony involves induction. In this process, individual analytic morphograms are combined to form analytic histograms, which in turn are connected to form analytic histomorphograms, which provide three-dimensional statements about the variation in craniofacial structures in a population. The second stage involves deduction, in which the analytic morphograms of a particular patient are compared with appropriate analytic histomorphograms, so that a diagnosis of the three-dimensional nature of the dysharmony can be made. Craniofacial morphanalysis is performed manually in small scale enquiries but the methods have been converted to computer-graphic technology for large-scale studies. A clinical morphanalysis service is currently conducted and a standard reference atlas is being prepared.

Adolescent↗

Anatomical and immunohistochemical identification of catecholaminergic neurones in brain slice preparations used in electrophysiology.

The physiological characteristics of central neural populations are being increasingly explored in slice preparations. A major challenge of this approach is to correlate the physiological properties of individual neurones or groups of neurones with their anatomical and chemical properties in order to gain key insights into their functional identities. The present study describes a method for determining the precise topographical position and the immunohistochemical characteristics of neurones in brain slice preparations that are used frequently in electrophysiological investigations. Thick horizontal slices of rat brainstem were re-cut using a method that provided thin sections that were always in the same plane as the parent slice and that were of suitable thickness for immunohistochemistry. Catecholaminergic neurones in these co-planar (horizontal) sections were stained using antisera to tyrosine hydroxylase, the rate-limiting enzyme for catecholamine synthesis. To identify individual catecholamine neurones in the co-planar sections, we constructed a reference atlas of the distribution of catecholamine neurones in the horizontal plane of the rat brain. The combined use of the horizontal atlas and of immunohistochemical techniques in co-planar sections of horizontal slices enables the determination of several key properties: (1) whether a neurone is TH-positive, (2) its precise topographical position and (3) its content of neuropeptides and other immunohistochemical markers. Thus our study offers a readily feasible method for correlative anatomy and immunohistochemistry of physiologically identified catecholaminergic neurones in brain slices.

Animals↗

The angiosomes of the mammals and other vertebrates.

This is a comparative study of the vasculature of the integument and underlying deep tissues of a range of mammals and other vertebrates. The investigation was conducted in the pig, monkey, dog, cat, possum, guinea pig, rat, rabbit, duck, and toad. The results from each are compared not only to each other, but also to previously performed human studies. The arterial network of the fresh animal cadaver was injected with a mixture of lead oxide and gelatin. The vascular anatomy of the skin, deep tissues, and individual muscles was defined by dissection, cutaneous perforator counts, photography, and radiography. A similar pilot study of the venous framework was performed in the pig, dog, and rabbit that included maps of the sites and orientations of the valves. The vasculature of the integument and deep tissues was correlated, and we found that we were able to define angiosomes (composite blocks of tissue supplied by the same source vessel) in each animal. Results revealed a marked dissimilarity of the overlying cutaneous vessels in many cases, yet a striking resemblance of the vascular architecture of the deep tissues. The size and density of the cutaneous perforators bore a close relation to the degree of the skin mobility, being large and sparse where the skin was mobile and smaller and more densely grouped where the integument was tethered or fixed. The cutaneous vasculature of the human resembled that of the monkey closely, was similar to that of the dog, cat, and possum, and was dissimilar to that of the pig, rat, guinea pig, and rabbit. Studies of the amphibian and bird bore many resemblances to those of the mammals. They provided basic concepts regarding modification of the animals' vascular anatomy in response to the functional demands of the species. In each animal, the arteries formed an unbroken network throughout the body. This consisted of anatomic territories linked by anastomotic vessels that were usually of reduced caliber. The pattern of the venous system was almost identical. Valved venous territories were linked by avalvular (oscillating) veins. The common denominator in the vascular system is the capillary bed. Conceptually, the anatomic arrangement of the arteries and veins, reproduced in each species, appears to be a sophisticated mechanism to allow equilibration of flow and pressure arriving at and departing from the capillary bed. The angiosome concept is reinforced by the animal studies. Although this investigation is essentially a detailed pilot study, it embraces many animals commonly used for experimentation and provides a reference atlas of their vasculature.(ABSTRACT TRUNCATED AT 400 WORDS)

Anatomy, Comparative↗

Quantitative comparison and analysis of brain image registration using frequency-adaptive wavelet shrinkage.

In the field of template-based medical image analysis, image registration and normalization are frequently used to evaluate and interpret data in a standard template or reference atlas space. Despite the large number of image-registration (warping) techniques developed recently in the literature, only a few studies have been undertaken to numerically characterize and compare various alignment methods. In this paper, we introduce a new approach for analyzing image registration based on a selective-wavelet reconstruction technique using a frequency-adaptive wavelet shrinkage. We study four polynomial-based and two higher complexity nonaffine warping methods applied to groups of stereotaxic human brain structural (magnetic resonance imaging) and functional (positron emission tomography) data. Depending upon the aim of the image registration, we present several warp classification schemes. Our method uses a concise representation of the native and resliced (pre- and post-warp) data in compressed wavelet space to assess quality of registration. This technique is computationally inexpensive and utilizes the image compression, image enhancement, and denoising characteristics of the wavelet-based function representation, as well as the optimality properties of frequency-dependent wavelet shrinkage.

Brain↗

Cardiovascular risk factors and cerebral atrophy in a middle-aged cohort.

BACKGROUND: Because cardiovascular (CV) risk factors have been associated with declines in cognitive functions and late life dementia, CV risk factors should also be associated with brain atrophy. OBJECTIVE: To study the association of CV risk factors with ventricular size (VS) and sulcal size (SS) in the middle-aged and young-elderly Atherosclerosis Risk in Communities (ARIC) Study cohort. METHODS: Cerebral MRI was performed on 1,812 individuals (aged 50 to 73 [mean 62.3] years, 60% women, 50% African American) with no history of stroke or TIA from the ARIC cohort at study sites in Forsyth County, NC, and Jackson, MS. Neuroradiologists rated VS and SS using a semiquantitative, 10-point scale by visual comparison with a standardized reference atlas. CV risk factors were assessed approximately 6 years prior to the MR scan. The authors performed multivariate analyses to assess the independent relationship between CV risk factors and the two measures of brain atrophy. RESULTS: Logistic regression models controlling for age, sex, race, and alcohol use found that the association between diabetes and VS is as follows: OR = 1.63, 95% CI: 1.19 to 2.24; p = 0.003. Increasing levels of fasting blood glucose also showed an association with greater VS (OR = 1.07, 95% CI: 1.03 to 1.10; p = 0.001, for each 10 mg/dL of blood glucose). No other CV risk factors were associated with greater VS or SS. CONCLUSIONS: In this middle-aged and young-elderly cohort, diabetes mellitus was associated with greater ventricular size. Mechanisms for deterioration of brain structural integrity may include microvascular, amyloidogenic, or other not-yet-defined effects of diabetes mellitus.

Age Factors↗

Evaluation of practical use of bone age assessments based on DXA-derived hand scans in diagnosis of skeletal status in healthy and diseased children.

The assessment of bone age is an important factor for the analysis of skeletal maturity, growth, and its aberrations. The classical method of bone age estimations is based on the recognition of changes in the radiographic appearance of the maturity indicators in hand-wrist radiographs by comparison with reference atlas. To apply bone age assessments, based on dual-energy X-ray absorptiometry (DXA)-derived hand scans, in the evaluation of skeletal status, 151 healthy children (4-18 yr old) and 61 with bone disorders (5-20 yr old) were investigated. All measurements were performed using Expert-XL and DPX-L densitometers (GE Lunar). Hand densitometry performed by the Expert-XL machine was used for the evaluation of bone age. Total-body measurements were performed using DPXL to calculate total-body bone mineral density (BMD) Z-score values as standard diagnostic parameters in pediatric densitometry and to verify diagnosis by taking into account assessed bone age. Strong correlations were found between BMD (g/cm2) and bone age in healthy children of both genders. We noted in several cases that low values of Z-scores (<-1) corresponded to delayed bone age in comparison to chronological age. After recalculation of BMD data according to bone age, a marked increase in Z-scores was noted, mainly in multihormonal pituitary-deficient subjects. It can be concluded that the use of hand densitometry in parallel with BMD measurements provide valuable information about skeletal maturation that leads to the improved diagnosis of skeletal status, especially in subjects with constitutional delay in growth.

Absorptiometry, Photon↗

A MAGIBU-based model for pediatric and juvenile CNS tumors: an in-house epigenetic decision-support framework compared with online DNA methylation classifiers.

Background: DNA methylation profiling is a tool that provides key support for central nervous system (CNS) tumor classification. However, diagnostically ambiguous pediatric cases may result in discordant outputs across classifiers. We developed MAGIBU, a cross-platform, projection-based framework that embeds individual methylomes into a fixed CNS reference landscape, ranking diagnostic entities by local epigenetic proximity to support clinician-led integrative diagnosis. Methods: As a proof-of-concept, we evaluated MAGIBU in eight morphologically challenging pediatric/juvenile CNS tumors with unresolved diagnoses after institutional and central pathology review. To establish a benchmark in the absence of a definitive histopathological ground truth, a consensus epigenetic reference was defined a priori for cases showing concordant results between the Heidelberg CNS Tumor Methylation Classifier and Methylscape Analysis. Comparisons were also performed with Epigenomic Digital Pathology (EpiDiP). To validate MAGIBU beyond this discovery cohort, performance was assessed at the family level across the CNS methylation spectrum (n = 678, 28 methylation families), on non-array platforms (whole-genome bisulfite sequencing and Oxford Nanopore), and in a focused analysis of the low-grade glioma and diffuse midline glioma compartment across four independent cohorts (n = 670). Results: In the discovery cohort, MAGIBU achieved high concordance with the consensus reference (Cohen's &#x3ba; = 0.855), outperforming EpiDiP (&#x3ba; = 0.278), which frequently placed low-grade tumors in proximity to higher-grade reference regions. Conclusions: MAGIBU provides a stable, quantitative differential diagnosis framework that mitigates the limitations of rigid categorical assignments. By leveraging a distance-based proximity metric, it offers a transparent decision-support tool that integrates effectively with clinical, radiological, and molecular data. While performance is inherently dependent on reference atlas composition, MAGIBU represents a robust complementary approach for the diagnostic workup of ambiguous CNS tumors.

Brain↗

Reduced R-loop abundance at proinflammatory loci: a shared epigenetic mechanism in inflammatory and metabolic diseases.

INTRODUCTION: R-loops, RNA-DNA hybrid structures with a displaced single-stranded DNA loop, are key regulators of transcriptional control, chromatin architecture, and genome stability and have emerging roles in inflammatory signaling. However, the relationship between R-loop abundance and strongly modulated inflammatory effector genes in metabolic inflammation and influenza virus infection remains underexplored. METHODS: We performed a locus-centric integrative analysis combining robust differentially expressed genes (DEGs) from multiple inflammatory and infection-related murine and human transcriptomic disease models with experimentally validated multi-cell R-loop annotations from the reference atlas RLoopBase. Our correlation framework evaluated the directional relationship between R-loop abundance and inflammatory gene expression rather than assuming disease-sample-matched R-loop measurements. We further analyzed R-loop regulatory proteins, NRF2-associated R-loop regulators, and overlaps between R-loop regulators and CRISPRi-identified mitochondrial and cellular reactive oxygen species (ROS) regulators. RESULTS: In angiotensin II-infused apolipoprotein E-deficient (ApoE-/-) mice, a model of abdominal aortic aneurysm (AAA), genomic regions encoding the top significantly upregulated genes exhibited significantly fewer R-loops than those encoding downregulated genes at days 14 and 28. Similarly, in atherosclerotic ApoE-/- mice fed a high-fat diet for 32 and 78 weeks, upregulated genes were associated with fewer R-loops than downregulated genes. Reduced R-loop abundance was also observed in genomic regions encoding the top significantly upregulated genes in liver tissues from patients with non-alcoholic steatohepatitis (NASH), as well as in monosodium urate (MSU)-stimulated lymphatic endothelial cells (LECs) and influenza virus-infected human umbilical vein endothelial cells (HUVECs). R-loop regulatory proteins upregulated during metabolic inflammation were enriched in immune and inflammatory pathways. NRF2 was identified as a regulator of 27 R-loop regulatory proteins, including 10 positively and 17 negatively regulated proteins. Furthermore, 54 R-loop regulatory proteins overlapped with CRISPRi-identified mitochondrial and cellular ROS regulators, suggesting potential reciprocal regulation between R-loop homeostasis and ROS signaling. Disease-associated changes in pro-ROS and anti-ROS R-loop regulatory proteins further linked R-loop regulation to inflammatory and oxidative stress pathways. DISCUSSION: These findings identify reduced R-loop abundance at genomic regions encoding strongly upregulated inflammatory genes as a shared feature across multiple models of metabolic inflammation and influenza virus infection. The results further suggest that immune-associated R-loop regulatory proteins and the NRF2-ROS axis may contribute to R-loop remodeling during inflammatory disease. This integrative framework provides new insight into the potential role of R-loops and ROS-sensitive R-loop regulators in inflammatory and metabolic diseases and identifies candidate pathways for future mechanistic investigation and therapeutic targeting.

R-loop regulatory proteins↗

Generic head models for atlas-based EEG source analysis.

We describe a method for using a generic head model, in the form of an anatomical atlas, to produce EEG source localizations. The atlas is fitted to the subject by a nonrigid warp using a set of surface landmarks. The warped atlas is used to compute a finite element model (FEM) of the forward mapping or lead-fields between neural current generators and the EEG electrodes. These lead-fields are used to localize current sources from the subject's EEG data and the sources are then mapped back to the anatomical atlas. This approach provides a mechanism for comparing source localizations across subjects in an atlas-based coordinate system, which can be used in the large fraction of EEG studies in which MR images are not available. The Montreal brain atlas was used as the reference anatomical atlas and 10 individual MR volumes were used to evaluate the method. The atlas was fitted to each subject's head by a thin-plate-spline (TPS) warp. The spatial locations of a generic 155-electrode configuration were used to constrain the warp. For the purposes of evaluation, dipolar sources were placed on the inner cortical surface in the atlas geometry and transferred to each subject's brain space using a polynomial warp. The parameters of the warp were computed using an intensity-based matching of the atlas and subject brains, thus ensuring that the sources were placed at approximately the same anatomical location in each case. Data were simulated in the subject geometry and a dipole fit was performed on these data using an FEM of the TPS warped atlas. The source positions found in the warped atlas were transferred back to the original atlas and compared to the original position. Sources were simulated at 972 locations evenly distributed over the inner cortical surface of the atlas. The mean error over all 10 subjects was 8.1 mm in the subject space and 15.2 mm in the atlas space. In comparison, using an affine transformation of the electrodes into atlas space and an FEM model generated from the atlas produced mean errors of 22.3 mm in subject space and 19.6 mm in atlas space. With a standard three-shell spherical model the errors were 27.2 mm in the subject space and 34.7 mm when mapped to atlas space.

Brain↗

Anatomy online: presentation of a detailed WWW atlas of human gross anatomy--reference for medical education.

We present an online anatomy atlas based on the Visible Human Project (VHP) of the US National Library of Medicine. The objective is to provide original unlabeled as well as labeled sections of the human body of high quality and resolution on the Internet, for use in basic and continuing medical education. For a representative overview of the body, 370 axial sections were selected from the male and female data base of the VHP with special regard to regions of clinical interest. Each section is accompanied by its corresponding computer tomography (CT) image and, if available, magnetic resonance images (MRI) for quick and easy comparison of morphologic and radiologic structures. The sections can be studied unlabeled or labeled according to the current Terminologia Anatomica. A linked vocabulary with more than 850 terms explains the labeling. Animations of the sections as well as of CT and MR images allow for further visualization of the topographic relationships of anatomical structures. The responses to the project indicate that students and physicians regard the Internet Atlas of Human Gross Anatomy as a most useful aid for learning and reviewing anatomical details. The atlas is accessible on: http://www.uni-mainz.de/FB/Medizin/Anatomie/workshop/vishuman/Eready.html.

Anatomy, Artistic↗

A four-dimensional probabilistic atlas of the human brain.

The authors describe the development of a four-dimensional atlas and reference system that includes both macroscopic and microscopic information on structure and function of the human brain in persons between the ages of 18 and 90 years. Given the presumed large but previously unquantified degree of structural and functional variance among normal persons in the human population, the basis for this atlas and reference system is probabilistic. Through the efforts of the International Consortium for Brain Mapping (ICBM), 7,000 subjects will be included in the initial phase of database and atlas development. For each subject, detailed demographic, clinical, behavioral, and imaging information is being collected. In addition, 5,800 subjects will contribute DNA for the purpose of determining genotype- phenotype-behavioral correlations. The process of developing the strategies, algorithms, data collection methods, validation approaches, database structures, and distribution of results is described in this report. Examples of applications of the approach are described for the normal brain in both adults and children as well as in patients with schizophrenia. This project should provide new insights into the relationship between microscopic and macroscopic structure and function in the human brain and should have important implications in basic neuroscience, clinical diagnostics, and cerebral disorders.

Adolescent↗

Three-dimensional maximum probability atlas of the human brain, with particular reference to the temporal lobe.

Probabilistic atlases of neuroanatomy are more representative of population anatomy than single brain atlases. They allow anatomical labeling of the results of group studies in stereotaxic space, automated anatomical labeling of individual brain imaging datasets, and the statistical assessment of normal ranges for structure volumes and extents. No such manually constructed atlas is currently available for the frequently studied group of young adults. We studied 20 normal subjects (10 women, median age 31 years) with high-resolution magnetic resonance imaging (MRI) scanning. Images were nonuniformity corrected and reoriented along both the anterior-posterior commissure (AC-PC) line horizontally and the midsagittal plane sagittally. Building on our previous work, we have expanded and refined existing algorithms for the subdivision of MRI datasets into anatomical structures. The resulting algorithm is presented in the Appendix. Forty-nine structures were interactively defined as three-dimensional volumes-of-interest (VOIs). The resulting 20 individual atlases were spatially transformed (normalized) into standard stereotaxic space, using SPM99 software and the MNI/ICBM 152 template. We evaluated volume data for all structures both in native space and after spatial normalization, and used the normalized superimposed atlases to create a maximum probability map in stereotaxic space, which retains quantitative information regarding inter-subject variability. Its potential applications range from the automatic labeling of new scans to the detection of anatomical abnormalities in patients. Further data can be extracted from the atlas for the detailed analysis of individual structures.

Adult↗

A digital brain atlas and its application to the visceral neuraxis.

We describe the details and application of a digital brain atlas for the comparison and integration of graphical neurobiological data. The atlas consists of multiple sets of high-resolution video images acquired from histological tissue sections representing a 3-dimensional (3D) volume of an exemplar rat brain. Through an interactive graphical interface running on a standard computer workstation, experimental data is brought into register with the atlas. Once in the atlas, coordinate reference frame data can be compared, analyzed, and visualized in 3 dimensions. We demonstrate the validity and usefulness of the digital brain atlas with a series of results on the visceral neuraxis in the rat.

Animals↗