Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Deficits in social communication, restricted interests, and repetitive behaviours are hallmarks of autism spectrum disorder (ASD). Despite high genetic heritability, the majority of clinically diagnosed ASD cases have unknown genetic origins. We performed genome sequencing on mothers, fathers, and affected individuals from 104 families with ASD in Oman, a Middle Eastern country underrepresented in international genetic studies.

Galantamine-Memantine Combination in the Treatment of Parkinson's Disease Dementia.

Parkinson's disease (PD) is a progressive neurodegenerative disorder that affects over 1% of population over age 60. It is defined by motor and nonmotor symptoms including a spectrum of cognitive impairments known as Parkinson's disease dementia (PDD). Currently, the only US Food and Drug Administration-approved treatment for PDD is rivastigmine, which inhibits acetylcholinesterase and butyrylcholinesterase increasing the level of acetylcholine in the brain.

Chemokine CXCL12 Activates CXC Receptor 4 Metastasis Signaling Through the Upregulation of a CXCL12/CXCR4/MDMX (MDM4) Axis.

Background: The metastasis-promoting G-protein-coupled receptor CXC Receptor 4 (CXCR4) is activated by the chemokine CXCL12, also known as stromal cell-derived factor 1 (SDF-1). The CXCL12/CXCR4 pathway in cancer promotes metastasis but the molecular details of how this pathway cross-talks with oncogenes are understudied. An oncogene pathway known to promote breast cancer metastasis in MDA-MB-231 xenografts is that of Mouse Double Minute 2 and 4 (MDM2 and MDM4, also known as MDMX).

Sequential Endoluminal Doxorubicin and Gemcitabine Alternating Weekly with Sequential Mitomycin and Docetaxel for Recurrent Non-Muscle Invasive Urothelial Carcinoma.

After first-line treatment failure, patients with non-muscle invasive urothelial carcinoma (NMIUC) are recommended to undergo radical cystectomy. However, those unable to pursue radical surgery or desiring bladder preservation require effective salvage therapies. Multi-agent treatment regimens are particularly useful for targeting the complex resistance mechanisms of recurrent UC.

Multifractal dynamic changes of spontaneous brain activity in psychiatric disorders: Adult attention deficit-hyperactivity disorder, bipolar disorder, and schizophrenia.

It is one of the strategies to study the complexity of spontaneous fluctuation of brain neurons based on resting-state functional magnetic resonance imaging (rs-fMRI), but the multifractal characteristics of spontaneous fluctuation of brain neurons in psychiatric diseases need to be studied. Therefore, this paper will study the multifractal spontaneous brain activity changes in psychiatric disorders using the multifractal detrended fluctuation analysis algorithm based on the UCLA datasets. Specifically: (1) multifractal characteristics in adult attention deficit-hyperactivity disorder (ADHD), bipolar disorder (BP), and schizophrenia (SCHZ); (2) the source of those multifractal characteristics.

The Impact of Artificial Intelligence on Healthcare: A Comprehensive Review of Advancements in Diagnostics, Treatment, and Operational Efficiency.

Background And Aims: Artificial Intelligence (AI) beginning to integrate in healthcare, is ushering in a transformative era, impacting diagnostics, altering personalized treatment, and significantly improving operational efficiency. The study aims to describe AI in healthcare, including important technologies like robotics, machine learning (ML), deep learning (DL), and natural language processing (NLP), and to investigate how these technologies are used in patient interaction, predictive analytics, and remote monitoring. The goal of this review is to present a thorough analysis of AI's effects on healthcare while providing stakeholders with a road map for navigating this changing environment.

Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole genome sequencing of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study).

Sexual Stigma, Descriptive Norms, and U.S. Gay and Bisexual Men's Intentions to Perform Mpox Preventive Behaviors.

Based on the theory of normative social behavior, this research investigated the moderating role of three forms of sexual stigma - enacted, felt, and internalized - in the relationship between perceived descriptive norms and intentions of gay and bisexual men to engage in three preventive behaviors during the 2022 mpox outbreak in the U.S. Through an online survey conducted among 439 gay and bisexual men in September 2022, we observed that participants' perceived descriptive norms regarding mpox preventive behaviors among gay and bisexual male friends and among gay and bisexual men in general were both positively related to their intentions to adopt the recommended mpox preventive behaviors.

Lurker: Backdoor attack-based explainable rumor detection on online media.

Because of their proficiency in capturing the category characteristics of graphs, graph neural networks have shown remarkable advantages for graph-level classification tasks, that is, rumor detection and anomaly detection. Due to the manipulation of special means (e.g.

A multiplex method for rapidly identifying viral protease inhibitors.

With current treatments addressing only a fraction of pathogens and new viral threats constantly evolving, there is a critical need to expand our existing therapeutic arsenal. To speed the rate of discovery and better prepare against future threats, we establish a high-throughput platform capable of screening compounds against 40 diverse viral proteases simultaneously. This multiplex approach is enabled by using cellular biosensors of viral protease activity combined with DNA-barcoding technology, as well as several design innovations that increase assay sensitivity and correct for plate-to-plate variation.

The Art of Clinical Negotiation.

The art of clinical negotiation is an important, yet underappreciated aspect of medicine. Key components of negotiation include the need to consider principles over personalities; to explore all options before deciding on the best course; to realize that, if consensus cannot be achieved, then compromise may still be possible; to work from evidence to incorporate contextual factors; and to stay evidence based. These principles can be helpful in many settings, including contract negotiation, drug pricing, and research.

Terminology in ecology and evolutionary biology disproportionately harms marginalized groups.

The discipline of ecology and evolutionary biology (EEB) has long grappled with issues of inclusivity and representation, particularly for individuals with systematically excluded and marginalized backgrounds or identities. For example, significant representation disparities still persist that disproportionately affect women and gender minorities; Black, Indigenous, and People of Color (BIPOC); individuals with disabilities; and people who are LGBTQIA+. Recent calls for action have urged the EEB community to directly address issues of representation, inclusion, justice, and equity.

A Systematic Critical Appraisal of Clinical Practice Guidelines in Barrett's Esophagus Using the AGREE II Tool.

Background: Several clinical practice guidelines (CPGs) exist for managing Barrett's esophagus (BE). However, the methodological quality of these CPGs is not known. To summarize the methodological quality of CPGs, we performed a critical appraisal of all available CPGs for the management of BE published from January 2018 to February 2023.

Surgical Obliteration of a Filum Terminale Arteriovenous Fistula Following Aborted Endovascular Embolization: Illustrative Case Report and Literature Review.

Arteriovenous fistulas of the filum terminale are rare vascular malformations that predominantly affect males and can present with various neurological symptoms. In this study, we indexed previously published cases of filum terminale arteriovenous fistulas demonstrating that endovascular and microsurgical management are both proven to be appropriate and successful treatment modalities with low complication rates. Endovascular treatment is far less invasive; however, it is associated with higher failure rates, which need to be managed surgically.

Brief Report: Precision Language and Deletion of the "S" Word.

Introduction: In 2021, the International Association for the Study of Lung Cancer (IASLC) published the IASLC Language Guide as guidance on preferred language and phrasing in oral and written communications, including presentations at conferences. This study analyzed presentations from the 2022 IASLC World Conference on Lung Cancer (WCLC) one year after implementation of the Language Guide to identify adoption rates of non-stigmatizing language and to determine correlations with presenter characteristics.

Methods: We downloaded 522 slide presentations from the IASLC WCLC 2022 conference attendee portal.

RETRAGAM: Resistance training based on gamification during physical education. Rationale and study protocol.

Children's physical inactivity and increasing sedentary behaviour have become major public health concerns, with a concurrent decline in muscular fitness (MF) contributing to poor physical outcomes during childhood and adolescence, highlighting the importance of developing resistance training (RT) programs. Furthermore, several educational strategies such as gamification seem to increase students' motivation which can produce an increase in performance outcomes. This study describes the rationale and protocol of a school-based randomized controlled trial called "RETRAGAM" (REsistance TRAining based on GAMification).

Effect of semaglutide 2.4 mg on use of antihypertensive and lipid-lowering treatment in five randomized controlled STEP trials.

Objective: The objective of this study was to assess antihypertensive and lipid-lowering treatment changes in participants receiving semaglutide 2.4 mg versus placebo across pooled populations from five Semaglutide Treatment Effect in People with Obesity (STEP) trials.

Methods: Efficacy and safety of semaglutide 2.

Land Use Change Consistently Reduces α- But Not β- and γ-Diversity of Bees.

Land use change threatens global biodiversity and compromises ecosystem functions, including pollination and food production. Reduced taxonomic α-diversity is often reported under land use change, yet the impacts could be different at larger spatial scales (i.e.

Histopathologic Features of Acral Skin Biopsies in Dermatomyositis Patients and Comparison to Histopathologic Features in Non-Acral Biopsies.

Background: Acral lesions may represent the best/only skin lesions to biopsy in patients suspected to have dermatomyositis (DM). However, histopathologic features of acral DM skin lesions are poorly characterized.

Methods: We reviewed 50 acral biopsies from 46 DM patients and assessed numerous histopathologic features.

An Analysis of the Prevalence and Trends in Drug-Related Lyrics on Twitter (X): Quantitative Approach.

Background: The pervasiveness of drug culture has become evident in popular music and social media. Previous research has examined drug abuse content in both social media and popular music; however, to our knowledge, the intersection of drug abuse content in these 2 domains has not been explored. To address the ongoing drug epidemic, we analyzed drug-related content on Twitter (subsequently rebranded X), with a specific focus on lyrics.

The community dynamic alterations mechanisms of traveling plastics in the Pearl River estuary with the salinity influence.

Most ocean plastics originate from terrestrial emissions, and the plastisphere on the plastics would alter during the traveling due to the significant differences in biological communities between freshwater and marine ecosystems. Microorganisms are influenced by the increasing salinity during traveling. To understand the contribution of plastic on the alteration in biological communities of plastisphere during traveling, this study investigated the alterations in microbial communities on plastics during the migration from freshwater to brackish water and saltwater.