Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.

Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.

Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.

In silico protein structural analysis of PRMT5 and RUVBL1 mutations arising in human cancers.

DNA double strand breaks (DSBs) can be generated spontaneously during DNA replication and are repaired primarily by Homologous Recombination (HR). However, efficient repair requires chromatin remodeling to allow the recombination machinery access to the break. TIP60 is a complex conserved from yeast to humans that is required for histone acetylation and modulation of HR activity at DSBs.

The long-term effects of housing insecurity in young adulthood on subsequent material hardship, physiological and mental health.

Economic and material hardship, including housing insecurity - limited or uncertain availability or access to safe, quality, and affordable housing - is strongly linked to negative physical and mental health outcomes among adolescents and adults. However, data limitations and the inherent selectivity of housing insecurity have hindered comprehensive analysis of its long-term effects on physiological and mental health. This study uses data from The National Longitudinal Study of Adolescent to Adult Health (Add Health) to construct a sample of participants who experienced housing insecurity between the ages of 18-26 (Wave III) to a suitable control group using propensity score matching.

Goose multi-omics database: A comprehensive multi-omics database for goose genomics.

Multi-omics has helped elucidate the gene expression patterns and genomic variations closely associated with economically significant traits in geese. Despite the substantial genomic data generated through extensive goose studies, a unified platform for integrating these datasets is lacking. To address this gap, we introduced the Goose Multi-omics Database (GMD), which is accessible at http://goosedb.

Web Visualization for Spatiotemporal Genomic Epidemiology, Annotation, and Mutation Dynamics of Orthohantavirus hantanense Using Nextstrain.

The phylogeographic inference approach aims to connect genomic data with epidemiology to understand the spread and evolution of pathogens using visualization of spatiotemporal reconstructions. Orthohantavirus hantanense (HTNV), the causative agent of hemorrhagic fever with renal syndrome (HFRS), represents a significant global public health concern. Here, we introduce a localized Nextstrain platform for HTNV, offering a comprehensive resource for facilitating spatiotemporal genomic surveillance and the study of evolutionary dynamics of viral genomes.

Cross-Platform Ecological Momentary Assessment App (JTrack-EMA+): Development and Usability Study.

Background: Traditional in-clinic methods of collecting self-reported information are costly, time-consuming, subjective, and often limited in the quality and quantity of observation. However, smartphone-based ecological momentary assessments (EMAs) provide complementary information to in-clinic visits by collecting real-time, frequent, and longitudinal data that are ecologically valid. While these methods are promising, they are often prone to various technical obstacles.

Value Propositions for Digital Shared Medication Plans to Boost Patient-Health Care Professional Partnerships: Co-Design Study.

Background: Health authorities worldwide have invested in digital technologies to establish robust information exchange systems for improving the safety and efficiency of medication management. Nevertheless, inaccurate medication lists and information gaps are common, particularly during care transitions, leading to avoidable harm, inefficiencies, and increased costs. Besides fragmented health care processes, the inconsistent incorporation of patient-driven changes contributes to these problems.

3D ophthalmic ultrasonography at the slit lamp using existing ultrasound systems.

Purpose: This study aims to explore the feasibility and performance of three-dimensional ultrasound (3DUS) imaging in ophthalmology using commercially available ultrasound probes adapted to a slit lamp.

Significance: Despite ultrasound's long-standing application in eye care for visualizing ocular components, the evolution of 3DUS technology has remained inactive, with limited development and commercial availability. This study introduces a novel method that could potentially enhance ophthalmic diagnostics and treatment planning by providing comprehensive 3D views of ocular structures using existing ultrasound probes adapted to the conventional slit lamp.

Mechanism for Implementing the State Guarantee Program for Medical Services at the Primary Level.

Objective: Aim: The goal of this work is to investigate the effectiveness of state regulatory tools influencing the HCS reform process and the institutional support for the implementation of SGPMS at the primary level.

Patients And Methods: Materials and Methods: To evaluate the effectiveness of SGPMS implementation at the primary level, methods of observation, analysis and synthesis, grouping, and generalization were applied.

Results: Results: In the implementation of SGPMS, PMC is prioritized.

Voices and visions: Navigating the landscape of sexual, reproductive, and maternal health and rights in Latin America and the Caribbean: A stakeholder mapping and analysis.

This article presents the results of a mapping and analysis of key stakeholders operating in the field of Sexual, Reproductive, and Maternal Health and Rights (SRMHR) who are involved in the entitlement of health rights and access to health services for women, adolescents, LGBTQI+ individuals, migrants, indigenous people, Afro-descendants, and people with disabilities in Latin America and the Caribbean. Our study focuses on Argentina, Colombia, Guatemala, Guyana, Jamaica, Mexico, and Peru. The primary objective was to identify and comprehensively categorise the activities undertaken by them, since their actions shape, and promote or hinder the SRMHR political agenda in the region.

A Digital Tool (Technology-Assisted Problem Management Plus) for Lay Health Workers to Address Common Mental Health Disorders: Co-production and Usability Study in Pakistan.

Background: Mental health remains among the top 10 leading causes of disease burden globally, and there is a significant treatment gap due to limited resources, stigma, limited accessibility, and low perceived need for treatment. Problem Management Plus, a World Health Organization-endorsed brief psychological intervention for mental health disorders, has been shown to be effective and cost-effective in various countries globally but faces implementation challenges, such as quality control in training, supervision, and delivery. While digital technologies to foster mental health care have the potential to close treatment gaps and address the issues of quality control, their development requires context-specific, interdisciplinary, and participatory approaches to enhance impact and acceptance.

Screening for comprehensive social needs in patients with cancer: a narrative review.

Background: Patients with cancer who report social needs have worse quality of life, lower healthcare access, and suboptimal health outcomes. However, screening for social needs does not happen systematically and successful screening tools, strategies, and workflows have seldom been described. The downstream effects of screening including resource navigation have also not been well characterized.

Using DIMet for Differential Analysis of Labeled Metabolomics Data: A Step-by-step Guide Showcasing the Glioblastoma Metabolism.

Stable-isotope resolved metabolomics (SIRM) is a powerful approach for characterizing metabolic states in cells and organisms. By incorporating isotopes, such as C, into substrates, researchers can trace reaction rates across specific metabolic pathways. Integrating metabolomics data with gene expression profiles further enriches the analysis, as we demonstrated in our prior study on glioblastoma metabolic symbiosis.

A Scoping Review of Pakistani Healthcare Simulation: Insights for Lower-Middle-Income Countries.

Healthcare simulation has gained global recognition in health professions education, yet its adoption in Pakistan, a lower-middle-income country (LMIC), remains limited. This scoping review aimed to explore how simulation is integrated into healthcare education in Pakistan, highlighting challenges and opportunities to inform similar LMICs. Pakistan serves as a critical case study for LMICs due to its unique challenges, including uneven access to simulation technologies and limited faculty training, which are shared by many similar resource-constrained settings.

Uncovering somatic mosaic variants of -related overgrowth disorders - three cases with different clinical presentations.

Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.

Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.

MAI-TargetFisher: A proteome-wide drug target prediction method synergetically enhanced by artificial intelligence and physical modeling.

Computational target identification plays a pivotal role in the drug development process. With the significant advancements of deep learning methods for protein structure prediction, the structural coverage of human proteome has increased substantially. This progress inspired the development of the first genome-wide small molecule targets scanning method.

Transient shear wave elastometry using a portable magnetic resonance sensor.

Purpose: Magnetic resonance elastography (MRE) provides detailed maps of tissue stiffness, helping to diagnose various health conditions, but requires the use of expensive clinical MRI scanners. Our approach utilizes compact, cost-effective portable MR sensors that offer bulk characterization of material properties in a region of interest close to the surface (within 1-2 cm). This accessible instrument could enable routine monitoring and prevention of diseases not readily evaluated with conventional tools.

Comprehensive guide for epigenetics and transcriptomics data quality control.

Host response to environmental exposures such as pathogens and chemicals can include modifications to the epigenome and transcriptome. Improved signature discovery, including the identification of the agent and timing of exposure, has been enabled by advancements in assaying techniques to detect RNA expression, DNA base modifications, histone modifications, and chromatin accessibility. The interrogation of the epigenome and transcriptome cascade requires analyzing disparate datasets from multiple assay types, often at single-cell resolution, derived from the same biospecimen.

Effects of early palliative care intervention on medical resource use among end-of-life patients.

Background: In Taiwan, as the population ages, palliative care services (PCS) have expanded significantly to include comprehensive benefit plans for critically ill individuals, supported by reimbursements from the National Health Insurance program. However, incorporating palliative care into the medical management of these patients presents several challenges. We aim to evaluate the effects of palliative care interventions on medical resources in end-of-life scenarios, to promote earlier palliative care access and provide high-quality healthcare services for patients.

An Algorithmic Overview of Advanced Pain Therapies: A Narrative Review.

Purpose Of Review: Quickly referenceable, streamlined, algorithmic approaches for advanced pain management are lacking for patients, trainees, non-pain specialists, and interventional specialists. This manuscript aims to address this gap by proposing a comprehensive, evidence-based algorithm for managing neuropathic, nociceptive, and cancer-associated pain. Such an algorithm is crucial for pain medicine education, offering a structured approach for patient care refractory to conservative management.

Recovery and Degradation Drive Changes in the Dispersal Capacity of Stream Macroinvertebrate Communities.

Freshwater ecosystems face significant threats, including pollution, habitat loss, invasive species, and climate change. To address these challenges, management strategies and restoration efforts have been broadly implemented. Across Europe, such efforts have resulted in overall improvements in freshwater biodiversity, but recovery has stalled or failed to occur in many localities, which may be partly caused by the limited dispersal capacity of many species.

Chromosome-level assembly of basil genome unveils the genetic variation driving Genovese and Thai aroma types.

Basil, Ocimum basilicum L., is a widely cultivated aromatic herb, prized for its culinary and medicinal uses, predominantly owing to its unique aroma, primarily determined by eugenol for Genovese cultivars or methyl chavicol for Thai cultivars. To date, a comprehensive basil reference genome has been lacking, with only a fragmented draft available.

Genomic clustering tendency of transcription factors reflects phase-separated transcriptional condensates at super-enhancers.

Many transcription factors (TFs) have been shown to bind to super-enhancers, forming transcriptional condensates to activate transcription in various cellular systems. However, the genomic and epigenomic determinants of phase-separated transcriptional condensate formation remain poorly understood. Questions regarding which TFs tend to associate with transcriptional condensates and what factors influence their association are largely unanswered.

A Database on Antibiotics and Antibiotic Resistance in Wastewater and Solid Waste from Pharmaceutical Industry Based on a Systematic Review.

Residual antimicrobial agents in wastewater and solid waste from antimicrobial manufacturing facilities can potentially contaminate environments. The World Health Organization has established technical guidelines for managing antimicrobial resistance (AMR) in pharmaceutical wastewater and solid waste. However, the scarcity of publicly available data on antimicrobial manufacturing processes impedes the development of effective mitigation strategies.

Healthcare provision for displaced people in transit: Analyses of routinely collected data from INTERSOS clinics at the Ukrainian border with Moldova and Poland.

Background: The Russian military invasion of Ukraine has sparked Europe's largest forced displacement since World War II, bringing about significant health vulnerabilities for migrants and refugees. European health information systems lack comprehensive data coverage, especially in underrepresented migration stages like transit. This study aims to address this gap by analyzing data from INTERSOS clinics at the Moldovan and Polish borders with Ukraine to identify the common health conditions prompting people to seek healthcare services during transit.