Computer-aided screening of autism spectrum disorder: Eye-tracking study using data visualization and deep learning

Background: The early diagnosis of autism spectrum disorder (ASD) is highly desirable but remains a challenging task, which requires a set of cognitive tests and hours of clinical examinations. In addition, variations of such symptoms exist, which can make the identification of ASD even more difficult. Although diagnosis tests are largely developed by experts, they are still subject to human bias. In this respect, computer-assisted technologies can play a key role in supporting the screening process. Objective: This paper follows on the path of using eye tracking as an integrated part of screening assessment in ASD based on the characteristic elements of the eye gaze. This study adds to the mounting efforts in using eye tracking technology to support the process of ASD screening Methods: The proposed approach basically aims to integrate eye tracking with visualization and machine learning. A group of 59 school-aged participants took part in the study. The participants were invited to watch a set of age-appropriate photographs and videos related to social cognition. Initially, eye-tracking scanpaths were transformed into a visual representation as a set of images. Subsequently, a convolutional neural network was trained to perform the image classification task. Results: The experimental results demonstrated that the visual representation could simplify the diagnostic task and also attained high accuracy. Specifically, the convolutional neural network model could achieve a promising classification accuracy. This largely suggests that visualizations could successfully encode the information of gaze motion and its underlying dynamics. Further, we explored possible correlations between the autism severity and the dynamics of eye movement based on the maximal information coefficient. The findings primarily show that the combination of eye tracking, visualization, and machine learning have strong potential in developing an objective tool to assist in the screening of ASD. Conclusions: Broadly speaking, the approach we propose could be transferable to screening for other disorders, particularly neurodevelopmental disorders

A New Isoform of the Histone Demethylase JMJD2A/KDM4A Is Required for Skeletal Muscle Differentiation

In proliferating myoblasts, muscle specific genes are silenced by epigenetic modifications at their promoters, including histone H3K9 methylation. Derepression of the promoter of the gene encoding the myogenic factor myogenin (Myog) is key for initiation of muscle differentiation. The mechanism of H3K9 demethylation at the Myog promoter is unclear, however. Here, we identify an isoform of the histone demethylase JMJD2A/KDM4A that lacks the N-terminal demethylase domain (ΔN-JMJD2A). The amount of ΔN-JMJD2A increases during differentiation of C2C12 myoblasts into myotubes. Genome-wide expression profiling and exon-specific siRNA knockdown indicate that, in contrast to the full-length protein, ΔN-JMJD2A is necessary for myotube formation and muscle-specific gene expression. Moreover, ΔN-JMJD2A promotes MyoD-induced conversion of NIH3T3 cells into muscle cells. ChIP-on-chip analysis indicates that ΔN-JMJD2A binds to genes mainly involved in transcriptional control and that this binding is linked to gene activation. ΔN-JMJD2A is recruited to the Myog promoter at the onset of differentiation. This binding is essential to promote the demethylation of H3K9me2 and H3K9me3. We conclude that induction of the ΔN-JMJD2A isoform is crucial for muscle differentiation: by directing the removal of repressive chromatin marks at the Myog promoter, it promotes transcriptional activation of the Myog gene and thus contributes to initiation of muscle-specific gene expression

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices

Vampires in the village Žrnovo on the island of Korčula: following an archival document from the 18th century

Središnja tema rada usmjerena je na raščlambu spisa pohranjenog u Državnom arhivu u Mlecima (fond: Capi del Consiglio de’ Dieci: Lettere di Rettori e di altre cariche) koji se odnosi na događaj iz 1748. godine u korčulanskom selu Žrnovo, kada su mještani – vjerujući da su se pojavili vampiri – oskvrnuli nekoliko mjesnih grobova. U radu se podrobno iznose osnovni podaci iz spisa te rečeni događaj analizira u širem društvenom kontekstu i prate se lokalna vjerovanja.The main interest of this essay is the analysis of the document from the State Archive in Venice (file: Capi del Consiglio de’ Dieci: Lettere di Rettori e di altre cariche) which is connected with the episode from 1748 when the inhabitants of the village Žrnove on the island of Korčula in Croatia opened tombs on the local cemetery in the fear of the vampires treating. This essay try to show some social circumstances connected with this event as well as a local vernacular tradition concerning superstitions

Decision factors influencing hormone replacement therapy

SCOPUS: cp.jinfo:eu-repo/semantics/publishe

Facilitating patient-specific decisions regarding hormone replacement therapy.

CommentLetterinfo:eu-repo/semantics/publishe

Are we equal in adversity? Does Covid-19 affect women and men differently?

This article examines whether women are less prone than men to Covid-19 infections and their complications.info:eu-repo/semantics/publishe

Réactualisation du traitement hormonal a la ménopause en 2011.

In this review article an update of the menopause hormone therapy is presented (MHT). MHT is the most efficient therapy for climacteric symptoms. It prevents also osteoporosis. Nevertheless, since prolonged use is associated with increased health risks, other therapies, combined with calcium and vitamin D, are preferred for women who suffer from osteoporosis without climacteric symptoms. Increased breast cancer risk has been reported, after 5 years of use, in women treated with a fixed combined regimen of oestrogen and progestin (0,625 mg conjugated estrogens (CEE) + 5 mg de medroxyprogesteron acetate (MPA) (WHI-EP), while a reduced risk has been reported in women using oestrogen only (0,625 mg conjugated estrogens) (WHI-E). In women without risk factors, the attributable risk of suffering from a stroke or thromboembolism, following using MHT, is slow in women younger than 60 years of age. While, MHT (WHI-EP), was associated with an increased risk of coronary disease, in women who started their treatment around the age of 67 years, oestrogen only treatment (WHI-E), has been associated with a reduced coronary risk in women who initiated the therapy at a younger age (between 50-60 years), suggesting that the risks vary in relation to the used regimen and the treated population.English AbstractJournal ArticleReviewSCOPUS: re.jinfo:eu-repo/semantics/publishe

Determinants of the decision to perform prophylactic oophorectomy in association with a hysterectomy for a benign condition.

The decision to perform an elective bilateral salpingo-oophorectomy (BSO) at the time of a hysterectomy for a benign condition is complex.Journal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe