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Landman, B. A.

Publications and source records attributed to Landman, B. A..

At least 19 recordsLinked to original sources

Facilitating Valid Statistical Inference in Biomedical Image Synthesis

Generative AI for medical image synthesis is increasingly used to impute missing data and augment biomedical datasets. Yet despite achieving high computational similarity to their real-world counterparts, synthetic images remain uncommon in clinical research practice, in part because of concerns about their biological validity. Here, we evaluate whether synthetic images support reliable downstream statistical analysis and biological inference in magnetic resonance imaging (MRI) and multiplexed immunofluorescence (mIF) imaging. We find that associations between patient phenotypes and synthesized images can be severely attenuated. This is because synthesis methods typically omit clinically relevant covariates and therefore generate images that, although visually realistic, mask key biological differences. Furthermore, naive analyses treat synthesized images as if they were observed, ignoring the statistical uncertainty introduced by synthesis. Drawing on multiple imputation theory, we introduce Phenotype Aware Multiple Synthesis (PAMS), an analysis framework that requires no model retraining and instead adjusts synthesized output to recover valid biological estimates with appropriately calibrated uncertainty. Applied to MRI and mIF data, PAMS reduced estimation bias and restored nominal confidence interval coverage. Because it is compatible with existing synthesis pipelines, PAMS offers a practical and rigorous route to statistically and biologically valid use of synthesized images in biomedical imaging research.

bioinformatics↗

A geometric-to-neural cascade for cerebral microbleed detection in susceptibility-weighted MRI

Cerebral microbleeds (CMBs) are established imaging biomarkers of cerebral small vessel disease and are a defining feature of cerebral amyloid angiopathy (CAA), yet their automated detection in susceptibility-weighted imaging (SWI) remains challenging due to high false-positive rates from vessel cross-sections, iron and calcium deposits, and other hypointense mimics. We present a fully automated, three-stage cascade pipeline that combines subject-adaptive unsupervised candidate generation with two successive lightweight 3D ResNet classifiers, trained with only human-in-the-loop quality-assurance (QA) labels (yes/no per candidate) rather than dense voxel-wise segmentation masks. The candidate generation stage is performed by fitting a Gaussian Mixture Model (GMM) to each subjects SWI intensity histogram to define an adaptive low-intensity threshold, followed by anatomical masking to exclude physiologically irrelevant regions (image edges, ventricles/CSF/choroid plexus, and cerebellum), and filters candidates by size and sphericity. The model was trained and evaluated across a nested 3x5-fold cross-validation on N = 30 subjects from a publicly available labeled microbleed dataset and a CAA cohort (11,424 CMB candidate lesions) with data augmentation during training. Stage A classifies all geometric candidates as CMB or non-CMB and Stage B refines the predicted positives to suppress false positives (cascade AUC = 0.9587, sensitivity = 0.712, specificity = 0.975, PPV = 0.676, F1 = 0.693). The cascade reduces Stage A false positives by 76.8% (888/1,157 false positives eliminated) while retaining competitive sensitivity. Inference was performed on 141 SWI scans, detecting a mean 40.3 CMBs per scan and being preferred for use in 85% of high CMB cases, as evaluated by a blinded neurologist. The inference pipeline outputs binary CMB segmentation NIfTI images and radiologist-ready QA visualizations.

bioinformatics↗

Automated Segmentation of Brainstem and Subcortical White Matter: Mapping the Deep Tegmental Core with BundleParc

Diffusion MRI enables noninvasive mapping of human white matter pathways, but automated segmentation methods have largely focused on large association, projection, and commissural bundles. Brainstem and subcortical pathways supporting basal ganglia, cerebellar, limbic/reward, sensory, and homeostatic functions remain underrepresented in large-scale connectomic analyses. To address this gap, we adapted BundleParc, a recently introduced bundle-parcellation architecture, into an automated pipeline for direct segmentation and along-tract parcellation of 97 subcortical and brainstem white matter pathways. The model was trained on a curated reference dataset derived from Human Connectome Project diffusion MRI using anatomy-guided tractography, explicit inclusion and exclusion criteria, automated outlier filtering, and manual quality assurance. Operating directly on native-space fiber orientation distributions, the algorithm successfully recovers these intricate anatomical trajectories and ordered parcellations. We show the model generalizes to diverse external datasets spanning development, aging, and neurodegenerative disease cohorts, maintaining robust performance across variations in spatial resolution and angular sampling. The released container, trained model, population atlas, reference streamlines, and quality assurance outputs provide a resource for studying deep brainstem and subcortical pathways in development, aging, disease, and neuromodulation-relevant anatomy.

neuroscience↗

Charting Cervical Spinal Cord Morphometry Across the Lifespan

Spinal cord morphometry provides essential biomarkers of neurological health, but clinical interpretations are confounded by inter-subject variability and a lack of normative references across the full human lifespan. We address this gap by generating the first comprehensive lifespan charts for cervical spinal cord morphometry. We leveraged 30 population-based brain MRI datasets, aggregating 78,269 scans from 41,042 individuals (ages 0-100) whose imaging protocols included cervical cord coverage. To overcome contrast variability, we employed a state-of-the-art contrast-agnostic deep learning segmentation method, extracting cross-sectional area (CSA), anteroposterior (AP) and right-left (RL/transverse), and shape indices (compression ratio, eccentricity, and solidity) from C1 to C7. Normative trajectories were modeled using Generalized Additive Models for Location, Scale, and Shape (GAMLSS). The resulting charts reveal distinct non-linear lifespan changes: rapid growth through childhood and adolescence, peak maturation occurring in early-to-mid adulthood (e.g., mid-30s for CSA), followed by gradual decreases. Significant regional variations along the cervical cord and consistent sex differences (males > females for size metrics) were quantified. Spinal cord trajectories showed strong temporal coupling with brain white matter and brainstem volumes, suggesting integrated CNS development and aging. These lifespan charts provide a robust normative framework, enabling age- and sex-specific centile scoring of individual spinal cord morphometry. This resource offers a critical tool for differentiating typical variation from pathological changes, enhancing the clinical utility of spinal cord MRI in studies of development and neurodegeneration.

neuroscience↗

Predicting Autopsy-Confirmed Neuropathology across Clinical, Neuroimaging, and CSF Biomarkers using Machine Learning

Accurate in vivo prediction of neuropathology is critical for advancing diagnosis and treatment of Alzheimers disease and related dementias (ADRDs). As many individuals with ADRDs have mixed pathologies ({beta}-amyloid, pathologic tau, cerebrovascular disease, vascular brain injury, pathologic TDP-43, hippocampal sclerosis, Lewy bodies), there is interest in determining how accurately we can infer these pathologic changes from clinical data, biofluid assays (e.g., CSF), and neuroimaging. Here we evaluated automated machine learning models trained on data curated by the AD Sequencing Project Phenotype Harmonization Consortium (N=7,894 individuals), to predict 26 autopsy-confirmed neuropathological outcomes. Predictors included in vivo clinical and cognitive composite scores, brain measures from 3D structural MRI and diffusion tensor imaging, image-derived measures of white matter hyperintensities (WMH), and CSF biomarkers. Predictive models were trained using ensemble learning with stratified cross-validation. We assessed performance using Spearmans rank correlation and Matthews correlation coefficient, to accommodate co-occurring pathologic changes. The added value of neuroimaging and CSF versus clinical features alone was quantified. Braak stage was among the most consistently predicted outcomes. CSF biomarkers best predicted {beta}-amyloid and tau pathology, but diffusion MRI metrics best captured vascular brain injury and white matter injury, and outperformed clinical and cognitive measures and anatomical MRI in predicting Lewy body disease. Anatomical measures from structural MRI outperformed standard clinical assessments in assessing neurodegeneration and hippocampal sclerosis, and WMH complemented cognitive measures in predicting TDP-43 pathology. These results establish a baseline for comparing modalities for inferring neuropathology.

neuroscience↗

Multidimensional MRI reveals cellular-scale microstructural phenotypes in human brain aging

Brain aging is accompanied by profound cellular and microstructural changes that precede overt tissue loss, yet in vivo MRI studies largely emphasize macroscopic measures or isolated diffusion and relaxation metrics, providing limited insight into how cellular-scale tissue architecture is altered across the adult lifespan. Here, we apply multidimensional diffusion-relaxation MRI (MD-MRI) to map voxel-wise microstructural phenotypes in cognitively unimpaired adults spanning early adulthood to late life (23-77 years). Rather than relying on predefined compartment models, MD-MRI resolves continuous voxel-wise distributions in a joint diffusion-relaxation space, enabling an integrated, model-free description of how cellular shape, size, restriction, and chemical environment vary with age. Using this approach, we reveal age-related multilateral shifts within a complex microstructural landscape, marked by increasing heterogeneity and disorder across brain tissue. With age, cellular-scale features showed a systematic transition from small to larger length-scale structures accompanied by reduced microscopic restriction, indicating a loss of fine cellular barriers and expansion of extracellular space. In parallel, we show tissue-dependent alterations in fast-relaxing properties aligned with known gray- and white-matter aging processes, including iron accumulation and myelin loss. Together, these findings indicate that normative brain aging involves progressive reorganization of structure and composition at the cellular level, rather than uniform shifts in bulk tissue properties. By decoupling cellular-scale shape, size, restriction, and chemical environment in vivo, MD-MRI identifies increasing cellular heterogeneity and breakdown of microscopic restriction as central features of human brain aging and provides a biologically interpretable framework for linking microstructural reorganization to age-related functional decline.

neuroscience↗

Modeling a Shared Reality of Tractography through Varied Structural Imaging

Though diffusion MRI (dMRI) is the gold standard for white matter tractography, fundamental questions remain about whether captured patterns reflect diffusion-specific phenomena or general structural properties accessible through alternative imaging approaches. This work investigates structural probabilities within the human brain as a complex manifold and examines structural-functional relationships of anatomical bundles to clarify what dMRI specifically captures in white matter architecture. We introduce a framework to extract white matter pathways from FLAIR images without additional subject-specific anatomical context. Using a teacher-student model, we capture systemic information from dMRI-based tractography to guide FLAIR-based tractogram creation. The teacher model trains on dMRI features to generate diffusion tractography, while the student utilizes frozen teacher layers to extract tractography features using only FLAIR input. In our pilot analysis of 14 randomly selected subjects from the Baltimore Longitudinal Study of Aging (BLSA), we performed additional inference on 9 withheld subjects to evaluate robustness. We assessed FLAIR-template generated streamlines using bundle adjacency and Dice coefficient at the voxel level across 39 white matter bundles compared to gold standard diffusion streamlines. Statistical evaluations compared our method against other non-diffusion tractography algorithms using T1-weighted and FLAIR images with subject-specific anatomical context. Results demonstrate our proposed method offers statistically similar performance to other non-diffusion methods when compared to diffusion streamlines These findings suggest that without diffusion data, our method captures unconditional subject-specific prior probabilities of tractography, indicating that tractography patterns may sample from a shared latent space of structural information not unique to any single imaging sequence.

bioengineering↗

Diffusion MRI Processing in the HEALthy Brain and Child Development Study: Innovations and Applications

The landmark ongoing HEALthy Brain and Cognitive Development (HBCD) study will longitudinally chart brain development in a large sample (projected n=7,200) of infants through age 10 years with multimodal neuroimaging that includes an advanced diffusion MRI (dMRI) acquisition. Here, we detail advances in dMRI image processing developed for HBCD, incorporated into the widely used QSIPrep pipeline. Major changes to preprocessing include improvements in infant brain extraction, distortion correction, and normalization to infant-specific templates. Additionally, we describe a new software package - QSIRecon - that yields rich derived data including diverse maps of tissue microstructure as well as person-specific white matter bundles. Using dMRI data from a subset of the HBCD 1.0 release where age information was available (n=529 sessions across two time points), we observe critical improvements in data quality with preprocessing and see expected developmental patterns. Moving forward, the publicly-available data from HBCD will rapidly grow to become the largest study of brain development in infancy and early childhood using dMRI. QSIPrep and QSIRecon are openly available and can be applied to other infant and pediatric dMRI datasets.

neuroscience↗

Bridging Histology and Tractography: First Visualization of the Short-Range Prefrontal Connections in the Human Brain

Decades of histological research in non-human primates have revealed a dense web of short-range connections underpinning prefrontal cortex (PFC) function. However, translating this anatomical ground-truth to the living human brain has been a major challenge, leaving our understanding of the PFCs intrinsic wiring incomplete. These short-range fibers are difficult to resolve with non-invasive methods like diffusion tractography, which are often hampered by false positives. Here, we provide the first systematic in-vivo visualization of these pathways in the human brain. By informing high-resolution probabilistic tractography with established tract-tracing findings, we mapped 91 histologically-defined short-range connections within and between five major PFC subdivisions in 1,003 individuals (547 F, 456 M). Our anatomically-informed approach successfully reconstructed these intricate connections with high precision (>80%) and accuracy (>70%) relative to histological findings. The resulting tracts not only captured broad organizational principles but also replicated fine-grained patterns previously only seen in invasive studies. Furthermore, these connections showed high test-retest reliability within individuals alongside significant variability between them, highlighting a stable yet unique anatomical fingerprint. Ultimately, this study shows how linking histology to tractography provides a powerful framework to advance our understanding of the human connectome and opens avenues to investigate local circuitry that underpins cognition and disease.

neuroscience↗

Lifespan Trajectories of Asymmetry in White Matter Tracts

Asymmetry in white matter is believed to give rise to the brains capacity for specialized processing and is involved in the lateralization of various cognitive processes, such as language and visuo-spatial reasoning. Although studies of white matter asymmetry have been previously documented, they have often been constrained by limited age ranges, sample sizes, or the scope of the tracts and structural features examined. While normative lifespan charts for brain structures are emerging, comprehensive charts detailing white matter asymmetries across numerous pathways and diverse structural measures have been notably absent. This study addresses this gap by leveraging a large-scale dataset of 35,120 typically developing and aging individuals, ranging from 0 to 100 years of age, from 50 primary neuroimaging studies. We generated comprehensive lifespan trajectories for 30 lateralized association and projection white matter tracts, examining 6 distinct microstructural and macrostructural features of these pathways. Our findings reveal that: (1) asymmetries are widespread across the brains white matter and are present in all 30 pathways; (2) for a given pathway, the degree and direction of asymmetry differ between features of tissue microstructure and pathway macrostructure; (3) asymmetries vary across and within pathway types (association and projection tracts); and (4) these asymmetries are not static, following unique trajectories across the lifespan, with distinct changes during development, and a general trend of becoming more asymmetric with increasing age (particularly in later adulthood) across pathways. This study represents the most extensive characterization of white matter asymmetry across the lifespan to date, charting how lateralization patterns emerge, mature, and change throughout life. It provides a foundational resource for understanding the principles of white matter organization from early to late life, its relation to functional specialization and inter-individual variability, and offers a key reference for interpreting deviations during healthy development and aging as well as those associated with clinical populations.

neuroscience↗

White matter microstructure and macrostructure brain charts across the human lifespan

Normative reference charts are widely used in healthcare, especially for assessing the development of individuals by benchmarking anatomic and physiological features against population trajectories across the lifespan. Recent work has extended this concept to gray matter morphology in the brain, but no such reference framework currently exists for white matter (WM) even though WM constitutes the essential substrate for neuronal communication and large-scale network integration. Here, we present the first comprehensive WM brain charts, which describe how microstructural and macrostructural features of WM evolve across the lifespan, by leveraging over 35,120 diffusion MRI scans from 50 harmonized studies. Using generalized additive models for location, scale, and shape (GAMLSS), we estimate age- and sex-stratified trajectories for 72 individual white matter pathways, quantifying both tract-specific microstructural and morphometric features. We demonstrate that these WM brain charts enable four important applications: (1) defining normative trajectories of WM maturation and decline across distinct pathways, (2) identifying previously uncharacterized developmental milestones and spatial gradients of tract maturation, (3) detecting individualized deviations from normative patterns with clinical relevance across multiple neurological disorders, and (4) facilitating standardized, cross-study centile scoring of new datasets. By establishing a unified, interpretable reference framework for WM structure, these brain charts provide a foundational metric for research and clinical neuroscience. The accompanying open-access trajectories, centile scoring tools, and harmonization methods facilitate precise mapping of WM development, aging, and pathology across diverse populations. We release the brain charts and provide an out-of-sample alignment process as a Docker image: https://zenodo.org/records/17561821.

neuroscience↗

White matter geometry confounds Diffusion Tensor Imaging Along Perivascular Space (DTI-ALPS) measures

IntroductionThe perivascular space (PVS) is integral to glymphatic function, facilitating fluid exchange and waste clearance in the brain. Diffusion Tensor Imaging Along the Perivascular Space (DTI-ALPS) has been proposed as a non-invasive marker of perivascular diffusion, yet its specificity remains unclear. ALPS measures assume that radial asymmetry in white matter diffusivity predominantly reflects PVS contributions. However, anatomical and microstructural confounds may influence these metrics. MethodsWe systematically evaluated potential biases in ALPS-derived measures using high-resolution, multi-shell diffusion MRI from the Human Connectome Project (HCP) and high-field imaging. Specifically, we examined (1) the prevalence of radial asymmetry across white matter, (2) the influence of crossing fibers on ALPS indices, (3) the impact of axonal undulations and dispersion, and (4) the spatial alignment of vasculature with white matter in ALPS-associated regions. ResultsRadial asymmetry is widespread across white matter and persists even at high b-values, suggesting a dominant contribution from axonal geometry rather than faster PVS-specific diffusion. Crossing fibers significantly inflate ALPS indices, with greater radial asymmetry observed in regions with a greater prevalence of crossing fibers. Furthermore, anisotropic axonal dispersion and undulations introduce systematic asymmetry independent of perivascular diffusion. Finally, high-resolution vascular imaging reveals substantial heterogeneity in medullary vein orientation, challenging the assumption that PVS consistently aligns with the left-right axis in ALPS regions. ConclusionALPS indices are significantly influenced by white matter microstructure, including fiber crossings, undulations, and dispersion. These findings suggest that ALPS-derived metrics may not provide a direct measure of glymphatic function but rather reflect underlying axonal geometry. Interpretations of ALPS-derived metrics as biomarkers of glymphatic function must consider these anatomical complexities, and future studies should integrate advanced modeling approaches to disentangle perivascular contributions from white matter structure.

neuroscience↗

The relationship of white matter tract orientation to vascular geometry in the human brain

The white matter of the human brain exhibits highly ordered anisotropic structures of both axonal nerve fibers and cerebral vasculature. Separately, the anisotropic nature of white matter axons and white matter vasculature have been shown to cause an orientation dependence on various MRI contrasts used to study the structure and function of the brain; however, little is known of the relationship between axonal and vascular orientations. Thus, the aim of this study is to compare the orientation between nerve fibers and vasculature within the white matter. To do this, we use diffusion MRI and susceptibility weighted imaging acquired in the same healthy young adult volunteers and analyze the alignment between white matter fibers and blood vessels in different brain regions, and along different pathways, to determine the degree of alignment between these structures. We first describe vascular orientation throughout the brain and note several regions with consistent orientations across individuals. Next, we find that vasculature does not necessarily align with the dominant direction of white matter in many regions, but, due to the presence of crossing fiber populations, does align with at least some white matter within each MRI voxel. Even though the spatial patterns of blood vessels run in parallel to several white matter tracts, they do not do so along the entire pathway, nor for all pathways, suggesting that vasculature does not supply/drain blood in a tract-specific manner. Overall, these findings suggest that the vascular architecture within the white matter is closely related to, but not the same as, the organization of neural pathways. This study contributes to a better understanding of the microstructural arrangement of the brain and may have implications for interpreting neuroimaging data in health and disease.

neuroscience↗

Characterization of neurite and soma organization in the brain and spinal cord with diffusion MRI

The central nervous system (CNS), comprised of both the brain and spinal cord, and is a complex network of white and gray matter responsible for sensory, motor, and cognitive functions. Advanced diffusion MRI (dMRI) techniques offer a promising mechanism to non-invasively characterize CNS architecture, however, most studies focus on the brain or spinal cord in isolation. Here, we implemented a clinically feasible dMRI protocol on a 3T scanner to simultaneously characterize neurite and soma microstructure of both the brain and spinal cord. The protocol enabled the use of Diffusion Tensor Imaging (DTI), Standard Model Imaging (SMI), and Soma and Neurite Density Imaging (SANDI), representing the first time SMI and SANDI have been evaluated in the cord, and in the cord and brain simultaneously. Our results demonstrate high image quality even at high diffusion weightings, reproducibility of SMI and SANDI derived metrics similar to those of DTI with few exceptions, and biologically feasible contrasts between and within white and gray matter regions. Reproducibility and contrasts were decreased in the cord compared to that of the brain, revealing challenges due to partial volume effects and image preprocessing. This study establishes a harmonized approach for brain and cord microstructural imaging, and the opportunity to study CNS pathologies and biomarkers of structural integrity across the neuroaxis.

neuroscience↗

Sex, racial, and APOE-ϵ4 allele differences in longitudinal white matter microstructure in multiple cohorts of aging and Alzheimer's disease

Structured AbstractO_ST_ABSINTRODUCTIONC_ST_ABSThe effects of sex, race, and Apolipoprotein E (APOE) - Alzheimers disease (AD) risk factors - on white matter integrity are not well characterized. METHODSDiffusion MRI data from nine well-established longitudinal cohorts of aging were free-water (FW)-corrected and harmonized. This dataset included 4,702 participants (age=73.06 {+/-} 9.75) with 9,671 imaging sessions over time. FW and FW-corrected fractional anisotropy (FAFWcorr) were used to assess differences in white matter microstructure by sex, race, and APOE-{varepsilon}4 carrier status. RESULTSSex differences in FAFWcorr in association and projection tracts, racial differences in FAFWcorr in projection tracts, and APOE-{varepsilon}4 differences in FW limbic and occipital transcallosal tracts were most pronounced. DISCUSSIONThere are prominent differences in white matter microstructure by sex, race, and APOE- {varepsilon}4 carrier status. This work adds to our understanding of disparities in AD. Additional work to understand the etiology of these differences is warranted. HighlightsO_LISex, race, and APOE-{varepsilon}4 carrier status relate to white matter microstructural integrity C_LIO_LIFemales generally have lower FAFWcorr compared to males C_LIO_LINon-Hispanic Black adults generally have lower FAFWcorr than non-Hispanic White adults C_LIO_LIAPOE-{varepsilon}4 carriers tended to have higher FW than non-carriers C_LI Research in Context Systematic ReviewThe authors used PubMed and Google Scholar to review literature that used conventional and free-water (FW)-corrected microstructural metrics to evaluate sex, race, and APOE-{varepsilon}4 differences in white matter microstructure. While studies have previously explored differences by sex and APOE-{varepsilon}4 status, less is known about racial differences and no large-scale FW-corrected analysis has been performed. InterpretationSex and race were more associated with FAFWcorr while APOE-{varepsilon}4 status was associated with FW metrics. Association, projection, limbic, and occipital transcallosal tracts showed the greatest differences. Future DirectionFuture studies to determine the biological and social pathways that lead to sex, racial, and APOE-{varepsilon}4 differences are warranted. Consent StatementAll participants provided informed consent in their respective cohort studies.

neuroscience↗

The variability of multidimensional diffusion-relaxation MRI estimates in the human brain

Diffusion-relaxation correlation multidimensional MRI (MD-MRI) replaces voxel-averaged diffusion tensor quantities and R1 and R2 relaxation rates with their multidimensional distributions, enabling the selective extraction and mapping of specific diffusion-relaxation spectral ranges that correspond to different cellular features. This approach has the potential of achieving high sensitivity and specificity in detecting subtle changes that would otherwise be averaged out. Here, the whole brain characterization of MD-MRI distributions and derived parameters is presented and the intrascanner test-retest reliability, repeatability, and reproducibility are evaluated to promote the further development of these quantities as neuroimaging biomarkers. We compared white matter tracts and cortical and subcortical gray matter regions, revealing notable variations in their diffusion-relaxation profiles, indicative of unique microscopic morphological characteristics. We found that the reliability and repeatability of MD-MRI-derived diffusion and relaxation mean parameters were comparable to values expected in conventional diffusion tensor imaging and relaxometry studies. Importantly, the estimated signal fractions of intra-voxel spectral components in the MD-MRI distribution, corresponding to white matter, gray matter, and cerebrospinal fluid, were found to be reproducible. This underscores the viability of employing a spectral analysis approach to MD-MRI data. Our results show that a clinically feasible MD-MRI protocol can reliably deliver information of the rich structural and chemical variety that exists within each imaging voxel, creating potential for new MRI biomarkers with enhanced sensitivity and specificity.

neuroscience↗

A Specialized Epithelial Cell Type Regulating Mucosal Immunity and Driving Human Crohn's Disease

Crohns disease (CD) is a complex chronic inflammatory disorder that may affect any part of gastrointestinal tract with extra-intestinal manifestations and associated immune dysregulation. To characterize heterogeneity in CD, we profiled single-cell transcriptomics of 170 samples from 65 CD patients and 18 non-inflammatory bowel disease (IBD) controls in both the terminal ileum (TI) and ascending colon (AC). Analysis of 202,359 cells identified a novel epithelial cell type in both TI and AC, featuring high expression of LCN2, NOS2, and DUOX2, and thus is named LND. LND cells, confirmed by high-resolution in-situ RNA imaging, were rarely found in non-IBD controls, but expanded significantly in active CD. Compared to other epithelial cells, genes defining LND cells were enriched in antimicrobial response and immunoregulation. Moreover, multiplexed protein imaging demonstrated that LND cell abundance was associated with immune infiltration. Cross-talk between LND and immune cells was explored by ligand-receptor interactions and further evidenced by their spatial colocalization. LND cells showed significant enrichment of expression specificity of IBD/CD susceptibility genes, revealing its role in immunopathogenesis of CD. Investigating lineage relationships of epithelial cells detected two LND cell subpopulations with different origins and developmental potential, early and late LND. The ratio of the late to early LND cells was related to anti-TNF response. These findings emphasize the pathogenic role of the specialized LND cell type in both Crohns ileitis and Crohns colitis and identify novel biomarkers associated with disease activity and treatment response.

bioinformatics↗

Influence of preprocessing, distortion correction and cardiac triggering on the quality of diffusion MR images of spinal cord

Diffusion MRI of the spinal cord (SC) is susceptible to geometric distortion caused by field inhomogeneities, and prone to misalignment across time series and signal dropout caused by biological motion. Several modifications of image acquisition and image processing techniques have been introduced to overcome these artifacts, but their specific benefits are largely unproven and warrant further investigations. We aim to evaluate two specific aspects of image acquisition and processing that address image quality in diffusion studies of the spinal cord: susceptibility corrections to reduce geometric distortions, and cardiac triggering to minimize motion artifacts. First, we evaluate 4 distortion preprocessing strategies on 7 datasets of the cervical and lumbar SC and find that while distortion correction techniques increase geometric similarity to structural images, they are largely driven by the high-contrast cerebrospinal fluid, and do not consistently improve the geometry within the cord nor improve white-to-gray matter contrast. We recommend at a minimum to perform bulk-motion correction in preprocessing and posit that improvements/adaptations are needed for spinal cord distortion preprocessing algorithms, which are currently optimized and designed for brain imaging. Second, we design experiments to evaluate the impact of removing cardiac triggering. We show that when triggering is foregone, images are qualitatively similar to triggered sequences, do not have increased prevalence of artifacts, and result in similar diffusion tensor indices with similar reproducibility to triggered acquisitions. When triggering is removed, much shorter acquisitions are possible, which are also qualitatively and quantitatively similar to triggered sequences. We suggest that removing cardiac triggering for cervical SC diffusion can be a reasonable option to save time with minimal sacrifice to image quality.

neuroscience↗