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13,531 results for “Down Syndrome”
Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome
<p>DIfferential splicing analysis dataset generate using MAJIQ v2.5.1 pipeline accompanying the following manuscript: Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.</p>
7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome
<p>Defective 3beta-hydroxysterol-delta<sup>7 </sup>-reductase (DHCR7) in the developmental disorder, Smith-Lemli-Opitz syndrome (SLOS), results in deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC). Here, we show that loss of <i>DHCR7</i> causes accumulation of 7-DHC-derived oxysterol metabolites, premature neurogenesis, and perturbation of neuronal localization in developing murine or human cortical neural precursors, both <i>in vitro</i> and <i>in vivo</i>. We found that a major oxysterol, 3b,5a-dihydroxycholest-7-en-6-one (DHCEO), mediates these effects by initiating crosstalk between glucocorticoid receptor (GR) and neurotrophin receptor kinase TrkB. Either loss of <i>DHCR7</i> or direct exposure to DHCEO causes hyperactivation of GR and TrkB and their downstream MEK-ERK-C/EBP signaling pathway in cortical neural precursors. Moreover, direct inhibition of GR activation with an antagonist or inhibition of DHCEO accumulation with antioxidants rescues the premature neurogenesis phenotype caused by the loss of <i>DHCR7</i>. These results suggest that GR could be a new therapeutic target against the neurological defects observed in SLOS.</p>
Datasets corresponding to publication: Machine learning assisted Real-time deformability cytometry of CD34+ cells allows to identify patients with Myelodysplastic Syndromes
<p>This repository contains all dataset that correspond to the publication "Machine learning assisted Real-time deformability cytometry of CD34+ cells allows to identify patients with Myelodysplastic Syndromes". Furthermore, Python scripts are provided which allow to reproduce all analyses shown in the manuscript. Execution of the scripts requires a Python environment with packages as stated in the Methods section of the manuscript, or by using PyBox 0.1.0. PyBox is a readily installed Python environment containing all packages at the required version. PyBox is publicly available on GitHub: <a href="https://github.com/maikherbig/PyBox">https://github.com/maikherbig/PyBox</a>.</p>
Psychological Characteristics of patients with Takotsubo Syndrome and patients with Acute Coronary Syndrome: an explorative study toward a better personalized care
<p>Database of the paper: Psychological Characteristics of patients with Takotsubo Syndrome and patients with Acute Coronary Syndrome: an explorative study toward a better personalized care</p>
Host traits and environment interact to drive persistence of bat populations impacted by white-nose syndrome
<p>Emerging infectious diseases have resulted in severe population declines across diverse taxa. In some instances, despite attributes associated with high extinction risk, disease emergence and host declines are followed by host stabilization for unknown reasons. While host, pathogen, and the environment are recognized as important factors that interact to determine host-pathogen coexistence, they are often considered independently. Here, we use a translocation experiment to disentangle the role of host traits and environmental conditions in driving the persistence of remnant bat populations a decade after they declined 70-99% due to white-nose syndrome and subsequently stabilized. While survival was significantly higher than during the initial epidemic within all sites, protection from severe disease only existed within a narrow environmental space, suggesting host traits conducive to surviving disease are highly environmentally dependent. Ultimately, population persistence following pathogen invasion is the product of host-pathogen interactions that vary across a patchwork of environments.</p>
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis_dataset
<p>This dataset shows the clinical and neuroradiological data of the six patients included in the study. Patients clinically have a Joubert-like phenotype, but the genetic analysis disclosed for all of them the causative mutation in genes not associated with Joubert syndrome. For this reason, the patient's MRI and clinic were re-evaluated and the correct diagnosis was reassessed.</p> <p>Here, the following clinical, neuroradiological and genetic data which were taken into account in this study are listed. CLINICAL FINDINGS: Gender, age at examination, phenotype at onset, language, intellectual disability, ataxia, behavioral defects, dysmorphisms, epilepsy. NEUROIMAGING FINDINGS: cerebellar vermis, cerebellar hemispheres, SCPs. GENETIC FINDINGS: gene, variants.</p> <p>While the analysis of JS-related genes was negative, whole exome sequencing (WES) disclosed pathogenic variants in other genes causative of distinct brain malformative conditions with partial clinical and neuroradiological overlap with JS. Reassessment of brain MRIs from five patients by a panel of expert pediatric neuroradiologists blinded to the genetic diagnosis excluded the MTS in all cases but one, which raised conflicting interpretations. </p> <p>This study highlights that the diagnostic yield of NGS-based targeted panels is strictly related to the accuracy of the diagnostic referral based on clinical and imaging assessment, and that WES has an advantage over targeted panel analysis when the diagnostic suspicion is not straightforward.</p>
Evolution of selfing syndrome and its influence on genetic diversity and inbreeding: A range-wide study in Oenothera primiveris.
<p><strong>Premise of the study:</strong> To avoid inbreeding depression plants have evolved diverse breeding systems to favor outcrossing such as self-incompatibility. However, changes in biotic and abiotic conditions can result in selective pressures that lead to a breakdown in self-incompatibility. The shift to increased selfing is commonly associated with reduced floral features, lower attractiveness to pollinators, and increased inbreeding. In this study, we tested the hypothesis that the loss of self-incompatibility, a shift to self-fertilization (autogamy), and concomitant evolution of the selfing syndrome (reduction in floral traits associated with cross-fertilization) will lead to increased inbreeding and population differentiation in <em>Oenothera primiveris</em>. Across its range, this species exhibits a shift in its breeding system and floral traits from a self-incompatible population with large flowers to self-compatible populations with smaller flowers.</p> <p><strong>Methods:</strong> We conducted a breeding system assessment, evaluated floral traits in the field and under controlled conditions, and measured population genetic parameters using RADseq data. </p> <p><strong>Key results:</strong> Our results reveal a bimodal transition to the selfing syndrome from the west to the east of the range of <em>O. primiveris</em>. This shift includes variation in the breeding system, mating system, a reduction in floral traits (flower diameter, herkogamy, and scent production), a shift to greater autogamy, reduced genetic diversity, and increased inbreeding.</p> <p><strong>Conclusions:</strong> The observed variation highlights the importance of range-wide studies to understand breeding system variation and the evolution of the selfing syndrome within populations and species.</p>
Metabolic syndrome for the prognosis of postoperative complications after open pancreatic surgery in Chinese adult: a propensity score matching study
<p><strong>Background: </strong>To investigate the relationship between metabolic syndrome (MS) and postoperative complications in Chinese adults after open pancreatic surgery.</p> <p><strong>Methods: </strong>Relevant data were retrieved from the Medicalsystem® database of Changhai hospital (MDCH). All patients who underwent pancreatectomy from January 2017 to May 2019 were included, and relevant data were collected and analyzed. A propensity score matching (PSM) and a multivariate generalized estimating equation were used to investigate the association between MS and composite compositions during hospitalization. Cox regression model was employed for survival analysis.</p> <p><strong>Results: </strong>1481 patients were finally eligible for this analysis. According to diagnostic criteria of Chinese MS, 235 patients were defined as MS, and the other 1246 patients were controls. After PSM, no association was found between MS and postoperative composite complications (OR: 0.958, 95%CI: 0.715-1.282, P=0.958). But MS was associated with postoperative acute kidney injury (OR: 1.730, 95%CI: 1.050-2.849, P=0.031). Postoperative AKI was associated with mortality in 30 days and 90 days after surgery (P<0.001).</p> <p><strong>Conclusions: </strong>MS is not an independent risk factor correlated with postoperative composite complications after open pancreatic surgery. But MS is an independent risk factor for postoperative AKI of pancreatic surgery in Chinese population, and AKI is associated with survival after surgery.</p>
Senescent preosteoclast secretome promotes metabolic syndrome-associated osteoarthritis through COX2-PGE2
<p><span>Metabolic syndrome–associated osteoarthritis (MetS-OA)</span><span> is a distinct osteoarthritis phenotype defined by the coexistence of MetS or its individual components. Despite the high prevalence of MetS-OA, its pathogenic mechanisms are unclear. Here, we report that humans and mice with MetS are more likely to develop osteoarthritis-related subchondral bone alterations than those without MetS. </span><span>MetS-OA mice exhibited</span><span> a rapid</span> <span>increase in joint </span><span>subchondral bone plate and trabecular thickness </span><span>before articular cartilage degeneration. Subchondral preosteoclasts undergo senescence </span><span>at the pre- or early</span><span>-osteoarthritis stage</span><span> and </span><span>acquire a unique secretome to</span><span> stimulate osteoblast differentiation and inhibit osteoclast differentiation. Antagonizing preosteoclast senescence markedly mitigates pathological subchondral alterations and osteoarthritis progression in MetS-OA mice. </span><span>At the molecular level,</span> <span>preosteoclast secretome activates </span><span>COX2-PGE2, resulting in stimulated differentiation of osteoblast progenitors for subchondral bone formation. Administration of a selective COX2 inhibitor attenuated subchondral bone alteration and osteoarthritis progression in MetS-OA mice. Longitudinal analyses of the human Osteoarthritis Initiative (OAI) cohort dataset also revealed that </span><span>COX2 inhibitor use, relative to non-selective nonsteroidal anti-inflammatory drug use</span><span>, is associated with less</span><span> progression of </span><span>osteoarthritis and subchondral bone marrow lesion worsening in participants with MetS-OA. Our findings suggest a central role of a senescent preosteoclast secretome-COX2/PGE2 axis in the pathogenesis of MetS-OA.</span></p>
Supplementary material (Sanger sequencing photo) of the case of THRB mosaicism presented in Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism of Donnars et al. (https://doi.org/10.1210/clinem/dgac347)
<p>Supplementary material (Sanger photo) of the case of THRB mosaicism presented in "Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism", by Donnars et al. (https://doi.org/10.1210/clinem/dgac347)</p>
DYRK1a inhibitor mediated rescue of Drosophila models of Alzheimer's disease-Down Syndrome phenotypes
<p>Alzheimer's disease (AD) is the most common neurodegenerative disease which is becoming increasingly prevalent due to ageing populations resulting in huge social, economic, and health costs to the community. Despite the pathological processing of genes such as Amyloid Precursor Protein (APP) into Amyloid-b and Microtubule Associated Protein Tau (MAPT) gene, into hyperphosphorylated Tau tangles being known for decades, there remains no treatments to halt disease progression. One population with increased risk of AD are people with Down syndrome (DS), who have a 90% lifetime incidence of AD, due to trisomy of human chromosome 21 (HSA21) resulting in three copies of APP and other AD-associated genes, such as DYRK1A (Dual specificity tyrosine-phosphorylation-regulated kinase 1A) overexpression. This suggests that blocking DYRK1A might have therapeutic potential. However, it is still not clear to what extent DYRK1A overexpression by itself leads to AD-like phenotypes and how these compare to Tau and Amyloid-b mediated pathology. Likewise, it is still not known how effective a DYRK1A antagonist may be at preventing or improving any Tau, Amyloid-b and DYRK1a mediated phenotype. To address these outstanding questions, we characterised Drosophila models with targeted overexpression of human Tau, human Amyloid-b or the fly orthologue of DYRK1A, called minibrain (mnb). We found targeted overexpression of these AD-associated genes caused degeneration of photoreceptor neurons, shortened lifespan, as well as causing loss of locomotor performance, sleep, and memory. Treatment with the experimental DYRK1A inhibitor PST-001 decreased pathological phosphorylation of human Tau (at serine (S) 262). PST-001 reduced degeneration caused by human Tau, Amyloid-b or mnb lengthening lifespan as well as improving locomotion, sleep and memory loss caused by expression of these AD and DS genes. This demonstrated PST-001 effectiveness as a potential new therapeutic targeting AD and DS pathology.</p>
Predictors of metabolic syndrome among adults in Ethiopia
<p><strong>Background</strong></p> <p>Available evidence showed that metabolic syndrome in the adult population is persistently elevated due to nutrition transition, genetic predisposition, individual-related lifestyle factors, and other environmental risks. However, in developing nations, the burden and scientific evidence on the pattern, and risk exposures for the development of the metabolic syndrome were not adequately investigated. Thus, the study aimed to measure the prevalence of metabolic syndrome and to identify specific risk factors among adult populations who visited Dessie Comprehensive Specialized Hospital, Ethiopia.</p> <p><strong>Methods</strong></p> <p>A hospital-based cross-sectional study was conducted among randomly selected 419 adults attending Dessie Comprehensive Specialized Hospital from January 25 to February 29, 2020. We used the WHO STEP-wise approach for non-communicable disease surveillance to assess participants' disease condition. Metabolic syndrome was measured using the harmonized criteria recommended by the International Diabetes Federation Task Force in 2009. Data were explored for missing values, outliers, and multicollinearity before presenting the summary statistics and regression results. Multivariable logistic regression was used to disentangle statistically significant predictors of metabolic syndrome expressed using an odds ratio with a 95% of uncertainty interval. All statistical tests were managed using SPSS version 26. A non-linear dose-response analysis was performed to show the relationships between metabolic syndrome with potential risk factors.</p> <p><strong>Results</strong></p> <p>The overall prevalence of metabolic syndrome among adults was 35.0 %( 95% CI, (30.5, 39.8)). Women were more affected than men (i.e. 40.3% vs 29.4%). After adjusting for other variables, being female [OR=1.85; 95% CI (1.01, 3.38)], urban residence [OR=1.94; 95% CI (1.08, 3.24)], increased age [OR= 18.23; 95% CI (6.66, 49.84)], shorter sleeping durations [OR= 4.62; 95% CI (1.02, 20.98)], sedentary behaviour[OR=4.05; 95% CI (1.80, 9.11)], obesity[OR=3.14; 95% CI (1.20, 8.18) and alcohol drinking[OR=2.85; 95% CI (1.27,6.39)] were positively associated with the adult metabolic syndrome. Whilst have no formal education [OR=0.30; 95% CI (0.12, 0.74)] was negatively associated with metabolic syndrome.</p> <p><strong>Conclusions</strong></p> <p>The prevalence of the adult metabolic syndrome is found to be high. Metabolic syndrome has linear relationships with BMI, physical activity, sleep duration, and level of education. The demographic and behavioral factors are strongly related to the risk of metabolic syndrome. Since most of the factors are modifiable, there should be urgent large-scale community intervention programs focusing on increased physical activity, healthy sleep, weight management, minimizing behavioral risk factors, and healthier food interventions targeting a lifecycle approach. The existing policy should be evaluated whether due attention has been given to prevention strategies of NCDs.</p>
Pace-of-life syndrome: linking personality, metabolism and colour ornamentation in male guppies
<p>Within populations, there commonly exists consistent among-individual differences in behaviour. As a potential mechanism maintaining this variation, the pace-of-life-syndrome (POLS) hypothesis posits that consistent differences in the behaviour of individuals (i.e. 'personality') are intercorrelated and have coevolved with consistent individual differences in metabolism and life-history traits. Here, using adult male guppies, <em>Poecilia reticulata</em>, we tested under laboratory conditions (1) whether behavioural and metabolic traits vary consistently among individuals over time (≤ 7 days) and (2) the POLS prediction that repeatable behavioural traits should be intercorrelated with each other and with repeatable metabolic rate at the among-individual level. Furthermore, based on indicator models of sexual selection, we expected that sexually selected male colour ornamentation would predict individual personality and metabolic rate. We repeatedly assayed three behavioural traits (sociability, boldness, exploration) and three metabolic traits (resting metabolic rate, maximal metabolic rate, aerobic scope) in a set of males that varied in body size and colour ornamentation. All behavioural trait measures were repeatable, consistent with individual personality. Of the three metabolic traits, only resting metabolic rate (RMR) was repeatable. Behavioural trait measures were significantly intercorrelated and thus integrated in a behavioural syndrome. More 'proactive' males were bolder, more exploratory and more sociable than 'reactive' ones. However, contrary to the POLS hypothesis, <span>RMR</span>was not significantly correlated with any of the behavioural trait measures, suggesting that consistent individual differences in RMR do not drive or support differences in personality, or vice versa. Male colour ornamentation did not covary with behaviour or RMR and thus does not appear to be a reliable predictor of either behavioural or metabolic phenotypes. We therefore did not find any compelling support for the POLS hypothesis, suggesting that <span>individual differences in metabolism do not underlie the evolution and maintenance of among-individual behavioural variation in our study population.</span></p>
Data and script for "Dispersal syndromes in challenging environments: a cross-species experiment"
<p>Datset and R scripts for all analysis of the manuscript "Dispersal syndromes in challenging environments: a cross-species experiment" published in Ecology Letters.</p>
Metabolic syndrome severity score and associated cardiovascular risk in postmenopausal women of Bangladesh
<p>This data help to construct metabolic syndrome severity score and seek its association with absolute cardiovascular risk.</p>
Neocortical Localization and Thalamocortical Modulation of Neuronal Hyperexcitability contribute to Fragile X Syndrome: EEG Data
<p>Cleaned 128-channel source electrode data analyzed in manuscript</p>
Figs 1–9. 1–3 in Three new species of velvet ants from the tribe Smicromyrmini (Hymenoptera: Mutillidae) with unusual color syndrome
Figs 1–9. 1–3 – Ephucilla hejunhuai sp. n., holotype; 4–6 – Promecilla ovtchinnikovi sp.
Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman Syndrome mouse model
<p>We provide 6 files; 1. Data for western blot analysis (WB_NKCC1_KCC2_Fig1A.xlsx), 2. Data for [Cl-]i(Intracelluar‗Cl_Fig1B.xlsx), 3. Electrophysilogical data for mIPSC and tonic current (mIPSC_Tonic current_Fig2B_C_E.xlsx), 4. Data for behavior analysis (Behavior_analysis_Fig3A_C .xlsx), 5. Data for seizure threshhold (seizure_threshold_Fig4A.xlsx), 6. Data for EEG spike number and band power (EEG_analysis_Fig4B_C.xlsx)</p>
Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of fragile X syndrome
<p>Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and is the leading known single-gene cause of autism spectrum disorder. FXS patients display varied behavioural deficits that include mild to severe cognitive impairments in addition to mood disorders. Currently, there is no cure for this condition, however, there is an emerging focus on therapies that inhibit mTOR-dependent protein synthesis due to the clinical effectiveness of metformin for alleviating some behavioural symptoms in FXS. Adiponectin (APN) is a neurohormone that is released by adipocytes and provides an alternative means to inhibit mTOR activation in the brain. In these studies, we show that <em>Fmr1</em> KO mice, like FXS patients, show reduced levels of circulating APN, and that both LTP and LTD in the DG (dentate gyrus) are impaired. Brief (20 min) incubation of hippocampal slices in APN (50 nM) was able to rescue both LTP and LTD in the DG and increased both the surface expression and phosphorylation of GluA1 receptors. These results provide evidence for reduced adiponectin levels in FXS playing a role in decreasing bidirectional synaptic plasticity and show that therapies that enhance adiponectin levels may have therapeutic potential for this and related conditions.</p>
EFFECTIVENESS OF PELVIC FLOOR EXERCISE TO PREVENT LARS (LOW ANTERIOR RESECTION SYNDROME) AFTER MINI-INVASIVE LOW ANTERIOR RESECTION IN PATIENTS WITH RECTAL CANCER. Adherence to prescribed home exercise. Quality of life after low anterior resection.
<p><span>Advances in the surgical treatment of rectal diseases lead to better oncological results, a higher chance of preserving the sphincters, and thus a lower number of permanent stomas. However, the preserved anus does not always have to perform its original function fully. All patients after a low anterior resection are at risk of developing functional disorders - low anterior resection syndrome (LARS). The prevalence of LARS ranges from 41-80% and is a significant factor in reducing the quality of life. </span><span>According to the available data, it is possible to prevent LARS through postoperative pelvic floor exercises, however, relevant studies are missing. </span><span>The pelvic floor is a ligament-muscle system that provides dynamic support for the organ systems located in the small pelvis. </span><span>Strengthening the muscles can serve as a follow-up treatment after surgical procedures including prevention of LARS.</span></p> <p><span>The main goal of this randomized study will be to determine the effectiveness of pelvic floor exercises on the incidence or severity of LARS in patients after mini-invasive rectal resection. Secondary goal is to identify the adherence of patients to prescribed home exercise and quality of life. </span></p> <p><span>Researchers will compare the group of patients with pelvic floor exercises to those without. Under the professional guidance of a physiotherapist, participants will be educated the day before surgery and in the first 4 postoperative days to exercise the pelvic floor exercise and continue at home for a month. </span><span>The resulting knowledge will have a fundamental impact on clinical practice and patient management.</span></p>
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.