bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brain network mechanisms of visual perceptual organization in schizophrenia and bipolar disorder
Authors: Keane Brian P. , Krekelberg Bart , Mill Ravi D. , Silverstein Steven M. , Thompson Judy L. , Serody Megan , Barch Deanna M. , Cole Michael W. 
Published: January 2022

AbstractVisual shape completion is a canonical perceptual organization process that integrates spatially distributed edge information into unified representations of objects. People with schizophrenia show difficulty in discriminating completed shapes but the brain networks and functional connections underlying this perceptual difference remain poorly understood. Also unclear is whether similar neural differences arise in bipolar disorder or vary across the schizo-bipolar spectrum. To address these topics, we scanned (fMRI) people with schizophrenia, bipolar disorder, or no psychiatric illness during rest and during a task in which they discriminated configurations that formed or failed to form completed shapes (illusory and fragmented condition, respectively). Multivariate pattern differences were identified on the cortical surface using 360 predefined parcels and 12 functional networks composed of such parcels. Brain activity flow mapping was used to evaluate the likely involvement of resting-state connections for shape completion. Illusory/fragmented task activation differences (“modulations”) in the dorsal attention network (DAN) could distinguish people with schizophrenia (AUCs>.85) and could trans-diagnostically predict cognitive disorganization severity. Activity flow over functional connections from the DAN could predict secondary visual network modulations in each group, except among those with schizophrenia. The secondary visual network was strongly and similarly modulated in each subject group. Task modulations were dispersed over a larger number of networks in patients compared to controls. In summary, abnormal DAN activity emerges during perceptual organization in schizophrenia and may be related to improper attention-related feedback into secondary visual areas. Patients with either disorder may compensate for abnormal perception by relying upon non-visual networks.
Water Insecurity, Water Borrowing, and Psychosocial Stress Among Daasanach Pastoralists in Northern Kenya
Authors: Ford Leslie , Bethancourt Hilary J , Swanson Zane , Nzunza Rosemary , Wutich Amber , Brewis Alexandra , Young Sera , Almeida David , Douglass Matthew , Ndiema Emmanuel K. , Braun David R. , Pontzer Herman , Rosinger Asher Y. 
Published: January 2022

AbstractThis article quantifies Daasanach water insecurity experiences in Northern Kenya, examines how water insecurity is associated with water borrowing and psychosocial stress, and evaluates if water borrowing mitigates the stress from water insecurity. Of 133 households interviewed in 7 communities, 95% were water insecure and 74.4% borrowed water three or more times in the prior month. Regression analyses demonstrate water borrowing frequency moderates the relationship between water insecurity and psychosocial stress. Only those who rarely or never borrowed water reported greater stress with higher water insecurity. The coping mechanism of water borrowing may help blunt water insecurity-related stress.
Endogenous pancreatic microRNAs differentially target the Delta, Omicron, and Wuhan SARS-CoV-2 genomes to upregulate the Diabetes-associated genes
Authors: Bhavya Bhavya , Pathak Ekta , Mishra Rajeev 
Published: January 2022

AbstractThe SARS-CoV-2 viral genome is mutating and evolving into new variations, including the recently discovered Delta and Omicron. In this study, we used and evaluated our notion of differential targeting of SARS-CoV-2 variant genomes by microRNAs (miRNAs) of the infected human pancreas. We found that even with UTR mutations, the Delta, Omicron, and original Wuhan variations’ genomes would be differentially targeted by the host pancreas cell’s native miRNAs in the same way. The miRNAs show a difference in Minimal Free Energy (MFE) with the different viral variants’ genomes; however, they would still be responsible for the upregulation of the diabetes-associated genes.
Face processing in the infant brain after pandemic lockdown
Authors: Yates Tristan S. , Ellis Cameron T. , Turk-Browne Nicholas B. 
Published: January 2022

AbstractThe role of visual experience in the development of face processing has long been debated. We present a new angle on this question through a serendipitous study that cannot easily be repeated. Infants viewed short blocks of faces during fMRI in a repetition suppression task. The same identity was presented multiple times in half of the blocks (Repeat condition) and different identities were presented once each in the other half (Novel condition). In adults, the fusiform face area (FFA) tends to show greater neural activity for Novel vs. Repeat blocks in such designs, suggesting that it can distinguish same vs. different face identities. As part of an ongoing study, we collected data before the COVID-19 pandemic and after an initial State lockdown was lifted. The resulting sample of 12 infants (9–24 months) divided equally into pre- and post-lockdown groups with matching ages and data quantity/quality. The groups had strikingly different FFA responses: pre-lockdown infants showed repetition suppression (Novel>Repeat), whereas post-lockdown infants showed the opposite (Repeat>Novel), often referred to as repetition enhancement. These findings provide speculative evidence that altered visual experience during the lockdown, or other correlated environmental changes, may have affected face processing in the infant brain.
An Rtn4/Nogo-A-interacting micropeptide modulates synaptic plasticity with age
Authors: Kragness S. , Clark Z. , Mullin A. , Guidry J. , Earls L.R. 
Published: January 2022

AbstractMicropeptides, encoded from small open reading frames of 300 nucleotides or less, are hidden throughout mammalian genomes, though few functional studies of micropeptides in the brain are published. Here, we describe a micropeptide known as the Plasticity –Associated Neural Transcript Short (Pants), located in the 22q11.2 region of the human genome, the microdeletion of which conveys a high risk for schizophrenia. Our data show that Pants is upregulated in early adulthood in the mossy fiber circuit of the hippocampus, where it exerts a powerful negative effect on long-term potentiation (LTP). Further, we find that Pants is secreted from neurons, where it associates with synapses but is rapidly degraded with stimulation. Pants dynamically interacts with Rtn4/Nogo-A, a well-studied regulator of adult plasticity. Pants interaction with Nogo-A augments its influence over postsynaptic AMPA receptor clustering, thus gating plasticity at adult synapses. This work shows that neural micropeptides can act as architectural modules that increase the functional diversity of the known proteome.
Probabilistic forward replay of anticipated stimulus sequences in human primary visual cortex and hippocampus
Authors: Ekman Matthias , Gennari Giulia , de Lange Floris P. 
Published: January 2022

AbstractThe ability to recognize and predict future spatiotemporal sequences is vital for perception. It has been proposed that the brain makes ‘intelligent guesses’ about future inputs by forward replaying these events. However, it is unknown whether and how this mechanism incorporates the probabilistic structure that is inherent to naturalistic environments. Here we tested forward replay in human V1 and hippocampus using a probabilistic cueing paradigm. Participants were exposed to two visual moving dot sequences (A and B) that shared the same starting point. Each stimulus sequence was paired with either a high or a low tone that predicted which sequence would follow with 80% cue validity (probabilistic context) or 50% cue validity (random context). We found that after exposure, the auditory cue together with the starting point triggered simultaneous forward replay of both the likely (A) and the less likely (B) stimulus sequence. Crucially, forward replay preserved the probabilistic relationship of the environment, such that the likely sequence was associated with greater anticipatory V1 activity compared to the less likely stimulus sequence. Analogous to V1, forward replay in hippocampus was also found to preserve the probabilistic cue-sequence relationship. Further, the anterior hippocampus was found to represent the predicted stimulus sequence, irrespective of the input, while the posterior hippocampus revealed a prediction error-like signal that was only observed when predictions were violated. These findings show how mnemonic and sensory areas coordinate predictive representations in probabilistic contexts to improve perceptual processing.
An interdisciplinary outpatient therapy program for children and adolescents with headache - real world data
Authors: Sobe H , Richter M , Berner R , von der Hagen M , Hähner A , Röder I , Koch T , Sabatowski R , Klimova A , Gossrau G 
Published: January 2022

AbstractBackground/ ObjectiveMore than 2/3 of children and adolescents in Germany regularly suffer from headaches. Headache-related limitations in everyday life, school drop-out and educational impairment are common. Structured therapy programs for young headache patients are widely missing. We investigate the effects of an outpatient interdisciplinary headache program for children, adolescents and their parents.Methods91 patients suffering from frequent headaches were treated in a 15 hour group program. Parents received 7 hours of therapy. At the beginning of the therapy program (T0), 6 (T1) and 12 months (T2) after completion, data on headache related disability (PedMidas), headache frequency, intensity, and pediatric pain disability score (PPDI) were collected. The primary endpoint was reduction in headache frequency, secondary endpoint reduction in PedMidas.Results75 children and adolescents (9-18 years, median = 14; 66.7% female) and their parents provided prospective patient reported outcome measures. Patients were diagnosed with any form of migraine or tension type headache or a combination of both. 6 and 12 months after completion of the therapy program patients reported reduced headache frequency (headache days in the last three months median at baseline: 30; T1: 18 days; T2: 13 days). Linear mixed models revealed significant reduction over time (T0/T1 p = 0,002; T0/T2 p = 0,001). In addition, reduced headache disability has been reported 6 and 12 months after therapy (PedMidas median T0= 30, T1=15, T2=7; p<0,001 and p<0,001 respectively).ConclusionsThe interdisciplinary headache therapy program for children and adolescents, reported here, reduces headache frequency and headache related disability significantly in a period of 6-12 month following its completion. Comparative studies of children and adolescents with headaches in general outpatient treatment are needed to further describe the therapeutic gains of the program.
Early introduction and rise of the Omicron SARS-CoV-2 variant in highly vaccinated university populations
Authors: Petros Brittany A. , Turcinovic Jacquelyn , Welch Nicole L. , White Laura F. , Kolaczyk Eric D. , Bauer Matthew R. , Cleary Michael , Dobbins Sabrina T. , Doucette-Stamm Lynn , Gore Mitch , Nair Parvathy , Nguyen Tien G. , Rose Scott , Taylor Bradford P. , Tsang Daniel , Wendlandt Erik , Hope Michele , Platt Judy T. , Jacobson Karen R. , Bouton Tara , Yune Seyho , Auclair Jared R. , Landaverde Lena , Klapperich Catherine M. , Hamer Davidson H. , Hanage William P. , MacInnis Bronwyn L. , Sabeti Pardis C. , Connor John H. , Springer Michael 
Published: January 2022

AbstractThe Omicron variant of SARS-CoV-2 is transmissible in vaccinated and unvaccinated populations. Here, we describe the rapid dominance of Omicron following its introduction to three Massachusetts universities with asymptomatic surveillance programs. We find that Omicron was established and reached fixation earlier on these campuses than in Massachusetts or New England as a whole, rapidly outcompeting Delta despite its association with lower viral loads. These findings highlight the transmissibility of Omicron and its propensity to fixate in small populations, as well as the ability of robust asymptomatic surveillance programs to offer early insights into the dynamics of pathogen arrival and spread.
The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomization study
Authors: Taylor Kurt , Wootton Robyn E. , Yang Qian , Oddie Sam , Wright John , Yang Tiffany C , Magnus Maria , Andreassen Ole A. , Borges Maria Carolina , Caputo Massimo , Lawlor Deborah A 
Published: January 2022

AbstractBackgroundCongenital heart diseases (CHDs) remain a significant cause of infant morbidity and mortality. Epidemiological studies have explored maternal risk factors for offspring CHDs, but few have used genetic epidemiology methods to improve causal inference.MethodsThree birth cohorts, including 38,662 mother/offspring pairs (N = 319 CHD cases) were included. We used Mendelian randomization (MR) analyses to explore the effects of genetically predicted maternal body mass index (BMI), smoking and alcohol on offspring CHDs. We generated genetic risk scores (GRS) using summary data from large scale genome-wide association studies and validated the strength of the genetic instrument for exposure levels during pregnancy. Logistic regression was used to estimate the odds ratio (OR) of CHD per 1 standard deviation (SD) change in GRS. Results for the three cohorts were combined using random-effects meta-analyses. We performed several sensitivity analyses including multivariable MR to check the robustness of our findings.ResultsThe GRSs associated with the exposures during pregnancy in all three cohorts. The associations of the GRS for maternal BMI with offspring CHD (pooled OR (95% confidence interval) per 1SD higher GRS: 1.01 (0.90, 1.13)) and lifetime smoking (pooled OR: 0.97 (0.87, 1.08)) were close to the null, though with wide confidence intervals. We observed weak evidence of an increased odds of offspring CHDs with increase in the maternal GRS for alcoholic drinks per week (pooled OR: 1.09 (0.98, 1.22)). Sensitivity analyses yielded similar results.ConclusionsOur results do not provide robust evidence of an effect of maternal BMI or smoking on offspring CHDs. However, results were imprecise. Our findings, including the potential effect of maternal alcohol intake on offspring CHD need to be replicated, and highlight the need for more and larger studies with maternal and offspring genotype and offspring CHD data.
The effect of reactive balance training on falls in daily life: an updated systematic review and meta-analysis
Authors: Devasahayam Augustine Joshua , Farwell Kyle , Lim Bohyung , Morton Abigail , Fleming Natalie , Jagroop David , Aryan Raabeae , Saumur Tyler Mitchell , Mansfield Avril 
Published: January 2022

ABSTRACTObjectiveReactive balance training is an emerging approach to reduce falls risk in people with balance impairments. The purpose of this study was to determine the effect of reactive balance training on falls in daily life among individuals at increased risk of falls, and to document associated adverse events.Data sourcesDatabases searched were Ovid MEDLINE (1946-November 2020), Embase Classic and Embase (1947-November 2020), Cochrane Central Register of Controlled Trials (2014-November 2020), Physiotherapy Evidence Database (PEDro; searched on 9 November 2020).Study selectionRandomized controlled trials of reactive balance training were included. The literature search was limited to English language. Records were screened by two investigators separately.Data extractionOutcome measures were number of participants who reported falls after training, number of falls reported after training, and the nature, frequency, and severity of adverse events. Authors of included studies were contacted to obtain additional information.Data synthesisTwenty-five trials were included, of which 14 reported falls and 19 monitored adverse events. Participants assigned to reactive balance training groups were less likely to fall compared to control groups (fall risk ratio: 0.75, 95% confidence interval=[0.60, 0.92]; p=0.006, I2=37%) and reported fewer falls than control groups (rate ratio: 0.60, 95% confidence interval=[0.42, 0.86]; p=0.005, I2=83%). Prevalence of adverse events was higher in reactive balance training (29%) compared to control groups (19%; p=0.018).ConclusionRBT reduces the likelihood of falls in daily life for older adults and people with balance impairments. More adverse events were reported for reactive balance training than control groups.ImpactBalance training that evokes balance reactions can reduce falls among people at increased risk of falls.
Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency
Authors: Forny Patrick , Bonilla Ximena , Lamparter David , Shao Wenguang , Plessl Tanja , Frei Caroline , Bingisser Anna , Goetze Sandra , van Drogen Audrey , Harshman Keith , Pedrioli Patrick G. A. , Howald Cedric , Poms Martin , Traversi Florian , Cherkaoui Sarah , Morscher Raphael J. , Simmons Luke , Forny Merima , Xenarios Ioannis , Aebersold Ruedi , Zamboni Nicola , Raetsch Gunnar , Dermitzakis Emmanouil , Wollscheid Bernd , Baumgartner Matthias R. , Froese D. Sean 
Published: January 2022

AbstractMulti-layered omics approaches can help define relationships between genetic factors, biochemical processes and phenotypes thus extending research of inherited diseases beyond identifying their monogenic cause 1. We implemented a multi-layered omics approach for the inherited metabolic disorder methylmalonic aciduria (MMA). We performed whole genome sequencing, transcriptomic sequencing, and mass spectrometry-based proteotyping from matched primary fibroblast samples of 230 individuals (210 affected, 20 controls) and related the molecular data to 105 phenotypic features. Integrative analysis identified a molecular diagnosis for 84% (177/210) of affected individuals, the majority (148) of whom had pathogenic variants in methylmalonyl-CoA mutase (MMUT). Untargeted analysis of all three omics layers revealed dysregulation of the TCA cycle and surrounding metabolic pathways, a finding that was further corroborated by multi-organ metabolomics of a hemizygous Mmut mouse model. Integration of phenotypic disease severity indicated downregulation of oxoglutarate dehydrogenase and upregulation of glutamate dehydrogenase, two proteins involved in glutamine anaplerosis of the TCA cycle. The relevance of disturbances in this pathway was supported by metabolomics and isotope tracing studies which showed decreased glutamine-derived anaplerosis in MMA. We further identified MMUT to physically interact with both, oxoglutarate dehydrogenase complex components and glutamate dehydrogenase providing evidence for a multi-protein metabolon that orchestrates TCA cycle anaplerosis. This study emphasizes the utility of a multi-modal omics approach to investigate metabolic diseases and highlights glutamine anaplerosis as a potential therapeutic intervention point in MMA.Take home messageCombination of integrative multi-omics technologies with clinical and biochemical features leads to an increased diagnostic rate compared to genome sequencing alone and identifies anaplerotic rewiring as a targetable feature of the rare inborn error of metabolism methylmalonic aciduria.Graphical abstract
Cueing motor memory reactivation during NREM sleep engenders learning-related changes in precuneus and sensorimotor structures
Authors: Rakowska Martyna , Bagrowska Paulina , Lazari Alberto , Navarrete Miguel , Abdellahi Mahmoud E. A. , Johansen-Berg Heidi , Lewis Penelope A. 
Published: January 2022

AbstractMemory reactivation during Non-Rapid Eye Movement (NREM) sleep is important for memory consolidation but it remains unclear exactly how such activity promotes the development of a stable memory representation. We used Targeted Memory Reactivation (TMR) in combination with longitudinal structural and functional MRI to track the evolution of a motor memory trace over 20 days. We show that repeated reactivation of motor memory during sleep leads to increased precuneus activation 24 h post-TMR. Interestingly, a decrease in precuneus activity over the next 10 days predicts longer-term cueing benefit. We also find both functional and structural changes in sensorimotor cortex in association with effects of TMR 20 days post-encoding. These findings demonstrate that TMR can engage precuneus in the short-term while also impacting on task-related structure and function over longer timescales.
Penalized Decomposition Using Residuals (PeDecURe) for Nuisance Variable Adjustment in Multivariate Pattern Analysis
Authors: Weinstein Sarah M. , Davatzikos Christos , Doshi Jimit , Linn Kristin A. , Shinohara Russell T. ,   Alzheimer’s Disease Neuroimaging Initiative
Published: January 2022

SummaryIn neuroimaging studies, multivariate methods provide a framework for studying associations between complex patterns distributed throughout the brain and neurological, psychiatric, and behavioral phenotypes. However, mitigating the influence of nuisance variables, such as confounders, remains a critical challenge in multivariate pattern analysis (MVPA). In studies of Alzheimer’s Disease, for example, imbalance in disease rates across age and sex may make it difficult to distinguish between structural patterns in the brain (as measured by neuroimaging scans) attributable to disease progression and those characteristic of typical human aging or sex differences. Concerningly, when not properly adjusted for, nuisance variables can obscure interpretations and preclude the generalizability of findings from neuroimaging studies. Motivated by this critical issue, in this work we examine the impact of nuisance variables on features extracted from image decomposition methods and propose Penalized Decomposition Using Residuals (PeDecURe), a new MVPA method for obtaining nuisance variable-adjusted features. PeDecURe estimates primary directions of variation which maximize covariance between residualized imaging features and a variable of interest (e.g., Alzheimer’s diagnosis) while simultaneously mitigating the influence of nuisance variation through a penalty on the covariance between residualized imaging features and those variables. Using features estimated using PeDecURe’s first direction of variation, we train an accurate and generalizable predictive model, as evidenced by its robustness in testing samples with different underlying nuisance variable distributions. We compare PeDecURe to commonly used decomposition methods (principal component analysis (PCA) and partial least squares) as well as a confounder-adjusted variation of PCA. We find that features derived from PeDecURe offer greater accuracy and generalizability and lower partial correlations with nuisance variables compared with the other methods. While PeDecURe is primarily motivated by MVPA in the context of neuroimaging, it is broadly applicable to datasets where the dimensionality or complexity of the covariance structure calls for novel methods to handle sources of nuisance variation.