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Data set from the article Moons P, Luyckx K, Thomet C, Budts W, Enomoto J, Sluman MA, Lu CW, Jackson JL, Khairy P, Cook SC, Chidambarathanu S, Alday L, Eriksen K, Dellborg M, Berghammer M, Johansson B, Mackie AS, Menahem S, Caruana M, Veldtman G, Soufi A, Fernandes SM, White K, Callus E, Kutty S, Ombelet F, Apers S, Kovacs AH; APPROACH-IS Consortium and the International Society for Adult Congenital Heart Disease (ISACHD). Physical Functioning, Mental Health, and Quality of Life in Different Congenital Heart Defects: Comparative Analysis in 3538 Patients From 15 Countries. Can J Cardiol. 2021 Feb;37(2):215-223. doi: 10.1016/j.cjca.2020.03.044. Epub 2020 Apr 6. PMID: 32739453. This is the abstract: Background: We compared physical functioning, mental health, and quality of life (QoL) of patients with different subtypes of congenital heart disease (CHD) in a large international sample and investigated the role of functional class in explaining the variance in outcomes across heart defects. Methods: In the cross-sectional Assessment of Patterns of Patient-Reported Outcome in Adults with Congenital Heart Disease-International Study (APPROACH-IS), we enrolled 4028 adult patients with CHD from 15 countries. Diagnostic groups with at least 50 patients were included in these analyses, yielding a sample of 3538 patients (median age: 32 years; 52% women). Physical functioning, mental health, and QoL were measured with the SF-12 health status survey, Hospital Anxiety and Depression Scale (HADS), linear analog scale (LAS) and Satisfaction with Life Scale, respectively. Functional class was assessed using the patient-reported New York Heart Association (NYHA) class. Multivariable general linear mixed models were applied to assess the relationship between the type of CHD and patient-reported outcomes, adjusted for patient characteristics, and with country as random effect. Results: Patients with coarctation of the aorta and those with isolated aortic valve disease reported the best physical functioning, mental health, and QoL. Patients with cyanotic heart disease or Eisenmenger syndrome had worst outcomes. The differences were statistically significant, above and beyond other patient characteristics. However, the explained variances were small (0.6% to 4.1%) and decreased further when functional status was added to the models (0.4% to 0.9%). Conclusions: Some types of CHD predict worse patient-reported outcomes. However, it appears that it is the functional status associated with the heart defect rather than the heart defect itself that shapes the outcomes.

Relocation dataset of lion and spotted hyena tracking data.

This link contains the raw data of the article "Auditory White Noise Exposure Modulates Human Cortical Excitability Patterns", by Schuler et al. (2023).

Cet ensemble de donnée contient les données issues des entrevues que nous avons réalisé avec des spécialistes retrouvés dans le groupe Facebook de machines à écrire.

In order to identify candidate protein binding partners of the transcription factor HEB, we generated conditional HEBAlt-HA transgenic mice. The transgene consisted of an HA-tagged HEBAlt coding region inserted downstream of a ROSA26-loxP-stop-loxP sequence to enable Cre recombinase activated expression of the transgene. Mice with two transgenic alleles without Cre are termed "TT" whereas those bred onto the Vav-Cre background are termed "TTV". Whole thymocytes were obtained from TT (n=2) or TTV (n=2) mice and subjected to immunoprecipitation using an anti-HA antibody and magnetic beads. Samples were trypsin-digested and analyzed by mass spectrometry on a Q Exactive HF-X Mass Spectrometer by the SPARC BioCentre facility (SickKids, Toronto). Scaffold (version Scaffold_4.8.9, Proteome Software Inc., Portland, OR) was used to validate MS/MS based peptide and protein identifications. Protein probabilities were assigned by the Protein Prophet algorithm81.

This dataset contains a group of global, half-degree, monthly climate covariates, and leaf area index records, for the period of 1982-2015.

Data set from the article Bernardini A, Camporeale A, Pieroni M, Pieruzzi F, Figliozzi S, Lusardi P, Spada M, Mignani R, Burlina A, Carubbi F, Battaglia Y, Graziani F, Pica S, Tondi L, Chow K, Boveri S, Olivotto I, Lombardi M. Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy. JACC Cardiovasc Imaging. 2020 Oct;13(10):2262-2264. doi: 10.1016/j.jcmg.2020.05.011. Epub 2020 Jun 17. PMID: 32563647. Brief introduction Anderson-Fabry disease (AFD) cardiomyopathy is characterized by glycosphingolipid (Gb3) storage in all cellular components, with consequent left ventricular hypertrophy (LVH). Gb3 accumulation also involves atrial myocytes (1), ultimately leading to left atrial (LA) enlargement and reduced atrial compliance. Cardiac magnetic resonance (CMR) plays an important role in the assessment of the severity of Fabry cardiomyopathy. CMR feature tracking (CMR-FT) specifically allows the assessment of myocardial strain from cine images

This database contains 3544 face images of individuals with 11 genetic conditions and unaffected (without any diagnosed condition). As well as raw images and syndrome labels, we provide face bounding boxes, 5-point facial landmarks on the entire database, and Human Phenotype Ontology (HPO) annotations of 171 test images. As described in the paper, all images used in this study were identified through searches of publicly available websites and were used for noncommercial research purposes. We cannot share the original images and related data with requestors but have provided links to the URLs in the manuscript describing this work and snapshots in lower resolution, with the assumption that these would not be used for purposes that would not be considered fair use. These data were compiled to produce a new, derivative work, which we offer as a whole. We cannot guarantee that the URLs or images are accurate or up-to-date and encourage interested parties to refer to the sources. For any use of the images in the database, please respect the license and copyrights of the original images and either do not use any visual material or make sure you have acquired rights to use the visual material. Reference Conference Paper: Ömer Sümer, Rebekah L. Waikel, Suzanna E. Ledgister Hanchard, Dat Duong, Peter Krawitz, Cristina Conati, Benjamin D. Solomon, Elisabeth André, "Region-based Saliency Explanations on the Recognition of Facial Genetic Syndromes," Proceedings of the 8th Machine Learning for Healthcare Conference, PMLR, 2023. Abstract: Deep neural networks in computer vision have shown remarkable progress in recognizing facial genetic syndromes. Many genetic syndromes are difficult to detect, even for experienced clinicians, and computer-aided phenotyping can accelerate clinical diagnosis. High-stakes clinical tasks using deep learning, as in clinical genetics, require human understandable explanations for model decisions. Saliency methods are used to explain DNN predictions in various image analysis domains but have yet to be studied in facial genetics. The syndromic features of most genetic conditions are often localized to areas like the eyes, nose, and mouth. In this paper, to summarize the contribution of key facial regions to a specific disease prediction, we propose a face region relevance score that can be applied to any saliency method. We also investigate how prior knowledge, namely human phenotype ontology and DNN model explanations, align. Quantitative experiments are performed on a new database containing over 3,500 images of 11 rare facial syndromes, a healthy control group, and an additional test set of 171 facial images, whose respective facial phenotypes are labeled by clinicians. Current saliency methods are good at capturing dysmorphism in particular regions (parts of the face), but they may not completely capture all the relevant features in a given person or condition. Our study indicates which saliency explanations and face regions are more consistent with the phenotypes of specific genetic syndromes and could be used in large-scale clinical evaluations.

Associated DataSet for Manuscript on the Nuclear Membrane and Nuclear Pore Complex. Each file corresponds to a different figure in the manuscript. Open the files for the ReadME information to understand the data in the workbook. Further explanations can be provided if needed from the authors of the manuscript.

Data set from the article Casteigt B, Samuel M, Laplante L, Shohoudi A, Apers S, Kovacs AH, Luyckx K, Thomet C, Budts W, Enomoto J, Sluman MA, Lu CW, Jackson JL, Cook SC, Chidambarathanu S, Alday L, Eriksen K, Dellborg M, Berghammer M, Johansson B, Mackie AS, Menahem S, Caruana M, Veldtman G, Soufi A, Fernandes Lpd SM, White K, Callus E, Kutty S, Brouillette J, Moons P, Khairy P; of the APPROACH-IS Consortium and the International Society for Adult Congenital Heart Disease (ISACHD). Atrial arrhythmias and patient-reported outcomes in adults with congenital heart disease: An international study. Heart Rhythm. 2020 Sep 19:S1547-5271(20)30894-8. doi: 10.1016/j.hrthm.2020.09.012. Epub ahead of print. PMID: 32961334. This is the abstract: Background: Atrial arrhythmias (ie, intra-atrial reentrant tachycardia and atrial fibrillation) are a leading cause of morbidity and hospitalization in adults with congenital heart disease (CHD). Little is known about their effect on quality of life and other patient-reported outcomes (PROs) in adults with CHD. Objective: The purpose of this study was to assess the impact of atrial arrhythmias on PROs in adults with CHD and explore geographic variations. Methods: Associations between atrial arrhythmias and PROs were assessed in a cross-sectional study of adults with CHD from 15 countries spanning 5 continents. A propensity-based matching weight analysis was performed to compare quality of life, perceived health status, psychological distress, sense of coherence, and illness perception in patients with and those without atrial arrhythmias. Results: A total of 4028 adults with CHD were enrolled, 707 (17.6%) of whom had atrial arrhythmias. After applying matching weights, patients with and those without atrial arrhythmias were comparable with regard to age (mean 40.1 vs 40.2 years), demographic variables (52.5% vs 52.2% women), and complexity of CHD (15.9% simple, 44.8% moderate, and 39.2% complex in both groups). Patients with atrial arrhythmias had significantly worse PRO scores with respect to quality of life, perceived health status, psychological distress (ie, depression), and illness perception. A summary score that combines all PRO measures was significantly lower in patients with atrial arrhythmias (-3.3%; P = .0006). Differences in PROs were consistent across geographic regions. Conclusion: Atrial arrhythmias in adults with CHD are associated with an adverse impact on a broad range of PROs consistently across various geographic regions.