Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs.

The Homo sapiens Chromosomal Location Ontology (HSCLO) is designed to facilitate the integration of human genomic features into biomedical knowledge graphs from releases GRCh37 and GRCh38 at multiple resolutions. HSCLO comprises two distinct versions, HSCLO37 and HSCLO38, each tailored to its respective human genome release. This ontology supports the efficient integration and analysis of human genomic data across scales ranging from entire chromosomes to individual base pairs, thereby enhancing data retrieval and interoperability within large-scale biomedical datasets.

A Radiomic-Clinical Model of Contrast-Enhanced Mammography for Breast Cancer Biopsy Outcome Prediction.

Rationale And Objectives: In the USA over 1 million breast biopsies are performed annually. Approximately 9.6% diagnostic exams were given Breast Imaging Reporting and Data System (BI-RADS) ≥4A, most of which are 4A/4B.

Efficacy, safety, and target engagement of dazukibart, an IFNβ specific monoclonal antibody, in adults with dermatomyositis: a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Background: Dermatomyositis is a chronic autoimmune disease with distinctive cutaneous eruptions and muscle weakness, and the pathophysiology is characterised by type I interferon (IFN) dysregulation. This study aims to assess the efficacy, safety, and target engagement of dazukibart, a potent, selective, humanised IgG1 neutralising monoclonal antibody directed against IFNβ, in adults with moderate-to-severe dermatomyositis.

Methods: This multicentre, double-blind, randomised, placebo-controlled, phase 2 trial was conducted at 25 university-based hospitals and outpatient sites in Germany, Hungary, Poland, Spain, and the USA.

The 24-hour physical activities in adults with cerebral palsy and their adherence to the 24-hour movement guideline.

Objective: To describe 24-hour physical activities (sleep and physical activity) in adults with cerebral palsy (CP), explore potential influencing factors and compare 24-hour physical activities with controls.

Design: Cross-sectional, observational internet study involving adults with CP and a convenience sample of adults without CP.

Setting: Individuals residing in the Netherlands Participants: 110 adults with CP (median age 42, range 28-77 years; 64 (58%) ambulant; 40% male) and 89 adult controls (median age 43, range 18-78 years; 29% male).

Peripubertal antagonism of corticotropin-releasing factor receptor 1 results in sustained changes in behavioral plasticity and the transcriptomic profile of the amygdala.

Peripuberty is a significant period of neurodevelopment with long-lasting effects on the brain and behavior. Blocking type 1 corticotropin-releasing factor receptors (CRFR1) in neonatal and peripubertal rats attenuates detrimental effects of early-life stress on neural plasticity, behavior, and stress hormone action, long after exposure to the drug has ended. CRFR1 antagonism can also impact neural and behavioral development in the absence of stressful stimuli, suggesting sustained alterations under baseline conditions.

Ultrasound-Guided Repair of the Anterior Talofibular Ligament With or Without Gould Augmentation Is Safe and Improves Clinical Outcomes for Chronic Lateral Ankle Instability: A Case Series of 49 Patients.

Objectives: We have previously shown that ultrasound-guided repair results in an accurate anchor placement and restores ankle joint stability using cadaveric models. The objective is to assess the safety and clinical outcomes of ultrasound-guided ATFL repair with or without augmentation.

Methods: Forty-nine patients with chronic lateral ankle instability underwent ultrasound-guided ATFL repair with or without augmentation.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

An examination of ambulatory care code specificity utilization in ICD-10-CM compared to ICD-9-CM: implications for ICD-11 implementation.

Objective: The ICD-10-CM classification system contains more specificity than its predecessor ICD-9-CM. A stated reason for transitioning to ICD-10-CM was to increase the availability of detailed data. This study aims to determine whether the increased specificity contained in ICD-10-CM is utilized in the ambulatory care setting and inform an evidence-based approach to evaluate ICD-11 content for implementation planning in the United States.

Investigation of stakeholder perceptions of the wheelchair service delivery process.

The wheelchair service delivery process (SDP) is a large complex system and therefore has many potential points of failure; determining priorities for improvement is challenging. The complexities introduce several barriers to accessing and maintaining wheelchairs for individuals with mobility impairments. Given the breadth and depth of the barriers, it is important to know in which areas to focus future policy reform efforts.

Adapting and validating the satisfaction, alertness, timing, efficiency, and duration-breast cancer (SATED-BC) scale for measuring sleep health in Spanish women treated for breast cancer.

Background: After breast cancer (BC), women may face other severe symptoms such as sleep problems. The use of simple, fast, and reliable scales is necessary in the clinic to improve patient benefits, and sleep is an important aspect to be addressed.

Objective: This study was conducted to adapt and validate the Spanish version of the satisfaction, alertness, timing, efficiency, and duration (SATED) scale for measuring sleep health in women who have completed treatment for BC in Spain (SATED-BC).

Integrating Sensor Technologies with Conversational AI: Enhancing Context-Sensitive Interaction Through Real-Time Data Fusion.

This article examines how sensor technologies (such as environmental sensors, biometric sensors, and IoT devices) intersect with conversational AI models like ChatGPT 4.0. In particular, this article explores how data from different sensors in real time can improve AI models' comprehension of surroundings, user contexts, and physical conditions.

Predicting Postoperative Lung Cancer Recurrence and Survival Using Cox Proportional Hazards Regression and Machine Learning.

Background: Surgical resection remains the standard treatment for early-stage lung cancer. However, the recurrence rate after surgery is unacceptably high, ranging from 30% to 50%. Despite extensive efforts, accurately predicting the likelihood and timing of recurrence remains a significant challenge.

Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.

A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.

The Overview of Silicon Carbide Technology: Status, Challenges, Key Drivers, and Product Roadmap.

Arguably, SiC technology is the most rapidly expanding IC manufacturing technology driven mostly by the aggressive roadmap for battery electric vehicle penetration and also industrial high-voltage/high-power applications. This paper provides a comprehensive overview of the state of the art of SiC technology focusing on the challenges starting from the difficult and lengthy SiC substrate growth all the way to the complex MOSFET assembly processes. We focus on the differentiation from the established Si manufacturing processes and provide a comprehensive list of references as well as a brief description of our own research into the key manufacturing processes in this technology.

From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.

: Inherited retinal diseases (IRDs) are a genetically complex group of disorders, usually resulting in progressive vision loss due to retinal degeneration. Traditional imaging methods help in structural assessments, but limitations exist in early functional cellular-level detection that are crucial for guiding new therapies. : This review includes a systematic search of PubMed and Google Scholar for studies on advanced imaging techniques for IRDs.

The association between neighborhood social vulnerability and community-based rehabilitation after stroke.

Background: Timely rehabilitative care is vital for functional recovery after stroke. Social determinants may influence access to and use of post-stroke care but have been inadequately explored. The study examined the relationship between the Social Vulnerability Index (SVI) and community-based rehabilitation utilization.

Updates on Langerhans cell histiocytosis and other histiocytosis in children: invited review-challenges and novelties in paediatric tumours.

Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.

Choriocapillaris flow in two different patterns of exudative type 1 macular neovascularization.

Background: To compare the characteristics of type 1 macular neovascularization (MNV) and the surrounding choriocapillaris (CC) perfusion in patients with neovascular age-related macular degeneration (nAMD) versus those with pachychoroid neovasculopathy (PNV) using swept-source optical coherence tomography angiography (SS-OCTA).

Methods: This retrospective study included 64 treatment-naïve eyes (37 nAMD, 27 PNV) with type 1 MNV. SS-OCTA images were analysed to measure MNV area and perimeter, and CC flow deficits (FD) in five concentric rings surrounding the lesion.

A BCG kill switch strain protects against Mycobacterium tuberculosis in mice and non-human primates with improved safety and immunogenicity.

Improved vaccination strategies for tuberculosis are needed. Intravenous (i.v.

Engineered Mycobacterium tuberculosis triple-kill-switch strain provides controlled tuberculosis infection in animal models.

Human challenge experiments could accelerate tuberculosis vaccine development. This requires a safe Mycobacterium tuberculosis (Mtb) strain that can both replicate in the host and be reliably cleared. Here we genetically engineered Mtb strains encoding up to three kill switches: two mycobacteriophage lysin operons negatively regulated by tetracycline and a degron domain-NadE fusion, which induces ClpC1-dependent degradation of the essential enzyme NadE, negatively regulated by trimethoprim.

Laboratory validation of patient-specific templating for total knee arthroplasty.

Patient-specific templating (PST), which is a sister procedure to patient-specific instrumentation (PSI) but hospital-based, is relatively less complex and less expensive than robotics and navigation. However, there are some concerns about the PST including the process of preoperative planning, 3D printing and material, positioning of PST intraoperatively, availability, and clinical value. The purpose of this study was to validate the technical accuracy and reliability of the PST technique in the lab and to report the outcomes of clinical application.

ESRP2-microRNA-122 axis promotes the postnatal onset of liver polyploidization and maturation.

Hepatocyte polyploidy and maturity are critical to acquiring specialized liver functions. Multiple intracellular and extracellular factors influence ploidy, but how they cooperate temporally to steer liver polyploidization and maturation or how post-transcriptional mechanisms integrate into these paradigms is unknown. Here, we identified an important regulatory hierarchy in which postnatal activation of epithelial splicing regulatory protein 2 (ESRP2) stimulates processing of liver-specific microRNA () to facilitate polyploidization, maturation, and functional competence of hepatocytes.

Soldier performance management: insights from boots on ground research and recommendations for practitioners.

Theoretically, the serial measurement of biomarkers to monitor physiological responses to military training could be used to mitigate musculoskeletal injury risk and better understand the recovery status of personnel. To date, the cost and scalability of these initiatives have impeded their uptake by defence organisations. However, advances in technology are increasing the accessibility of a range of health and performance biomarkers.