Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.

Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.

Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.

Impact of Scleroderma-Associated Autoantibodies on Clinical Outcome Assessments: Post Hoc Analysis From a Randomised, Double-blind, Placebo-controlled, Phase 3 Trial of Tocilizumab in Scleroderma.

Objective: Scleroderma-associated autoantibodies (SSc-Abs) are specific in participants (pts) with systemic sclerosis and are associated with organ involvement. Our objective was to assess the influence of baseline SSc-Abs on the trajectories of the clinical outcome assessments (COAs) in a phase III randomized controlled trial.

Methods: We used data on both the groups who received placebo (Pbo) and tocilizumab from the focuSSced trial.

Activating the cGAS-STING Pathway by Manganese-Based Nanoparticles Combined with Platinum-Based Nanoparticles for Enhanced Ovarian Cancer Immunotherapy.

Recent research has demonstrated that activating the cGAS-STING pathway can enhance interferon production and the activation of T cells. A manganese complex, called TPA-Mn, was developed in this context. The reactive oxygen species (ROS)-sensitive nanoparticles (NPMn) loaded with TPA-Mn are developed.

Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.

Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.

Comprehensive Analysis Reveals the Potential Diagnostic Value of Biomarkers Associated With Aging and Circadian Rhythm in Knee Osteoarthritis.

Objective: Knee osteoarthritis (KOA) is characterized by structural changes. Aging is a major risk factor for KOA. Therefore, the objective of this study was to examine the role of genes related to aging and circadian rhythms in KOA.

Characteristics of Resection Parameters in Robot-Assisted Total Knee Arthroplasty With the Ligament Balancing Workflow.

Objective: Robotic-assisted total knee arthroplasty (TKA) is a novel orthopedic technique. The workflow of robotic-assisted TKA is quite different from that of traditional manual TKA and may result incompletely different resection parameters. Understanding these parameters may help surgeons better perform robotic-assisted TKA.

Pelvic Radiotherapy in Rectal Cancer Patients With Synchronous Potentially Treatable Liver Metastases.

Background: The optimal management strategy for Stage IV rectal cancer with potentially treatable liver metastases remains controversial, particularly regarding the role of pelvic radiotherapy (RT).

Aims: We intend to investigate the impact of pelvic RT on oncological outcomes of rectal cancer with potentially treatable liver metastasis.

Methods And Results: This retrospective study included 83 patients diagnosed with rectal cancer and synchronous liver metastases from June 2012 to January 2022.

Duration of Disease and Long-Term Outcomes in Patients With Difficult-To-Treat Recurrent Pericarditis: A Chronic Condition Treated With Nonsteroidal Anti-Inflammatory Drugs, Colchicine, Corticosteroids, and Anti-Interleukin-1 Agents.

Objective: We aimed to investigate the remission rate and disease duration in idiopathic or post-cardiac injury pericarditis and risk factors for disease duration and anti-interleukin-1 (IL-1) agent discontinuation.

Methods: This was a multicenter, longitudinal, observational study including 370 patients (51.4% female).

The imbalance of circulating PD-L1-expressing non-classical/ classical monocytes is involved in immunocompromised host related pulmonary opportunistic infection.

The application of biological therapy and glucocorticoids in Auto-immune diseases (AID) patients will cause immunocompromised host (ICH) prone to infection. And monocytes play a key role in both innate and adaptive immune responses. We aimed to investigate the changes of circulating monocyte subsets in AID or AID-ICH patients with pulmonary infection.

Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.

Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.

Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.

Increasing Contraception Documentation in an Academic Rheumatology Clinic: A Quality Improvement Approach.

Objective: This quality improvement initiative aimed to increase the rate of provider screening and documentation of contraception use for reproductive-aged women seen in an academic rheumatology fellows' clinic to >50% by 24 weeks, with sustained improvement at one year.

Methods: With a multidisciplinary team, we devised and implemented six interventional cycles over 24 weeks informed by key stakeholder survey responses. The primary outcome measure was the percentage of eligible visits with contraception information documented in the structured electronic health record field.

A Combination of Conventional Transconjunctival Lower Blepharoplasty and Percutaneous Nanofat Grafting in a Young Chinese Population With Eyelid Bags and Tear Trough Deformities.

Objective: A simple and minimally invasive combined procedure, including transconjunctival orbital fat removal and transcutaneous resected orbital fat injection, was performed based on the anatomical characteristics of the lower eyelids in our young Chinese patients. Our study aimed to investigate the efficacy and safety of this procedure in our study population.

Methods: In our retrospective study, a total of 183 consecutive patients underwent a combination of traditional transconjunctival blepharoplasty and nanofat grafting between February 2020 and June 2024.

Recent advances in nanoultrasonography for the diagnosis and treatment of gastrointestinal diseases.

With the rapid development of nanotechnology, nanoultrasonography has emerged as a promising medical imaging technique that demonstrates significant potential in the diagnosis and treatment of gastrointestinal (GI) diseases. This review discusses the applications of nanoultrasonography in the gastrointestinal field, including improvements in imaging resolution, diagnostic accuracy, latest research findings, and prospects for clinical application. By analyzing existing literature, we explore the role of nanoultrasonography in enhancing imaging resolution, enabling targeted drug delivery, and improving therapeutic outcomes, thereby providing a reference for future research directions.

Innovative telehospitalist model optimizes medical triage in collaboration with community emergency departments: A cross-sectional study.

Introduction: Optimal hospital bed utilization requires innovative patient care models. We studied a novel hospitalist model utilizing telemedicine to facilitate collaboration with affiliated emergency departments (EDs) and support medical triage and care of ED patients with high likelihood of hospital admission.

Methods: Telehospitalists based at a tertiary care facility collaborated with four community EDs in the same healthcare network between January 1, 2022, and April 30, 2023.

The prognostic impact of arterial spin labeling hyperperfusion in acute ischemic stroke: a systematic review and meta-analysis.

Hyperperfusion is related to vessel recanalization, tissue reperfusion, and collateral circulation. To determine the prognostic impact of hyperperfusion after an acute ischemic stroke (AIS) identified by arterial spin labeling (ASL) cerebral blood flow. Studies published in PubMed, Embase, and Cochrane Library databases were searched.

Advances and applications of genome-edited animal models for severe combined immunodeficiency.

Severe combined immunodeficiency disease (SCID), characterized by profound immune system dysfunction, can lead to life-threatening infections and death. Animal models play a pivotal role in elucidating biological processes and advancing therapeutic strategies. Recent advances in gene-editing technologies, including zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), CRISPR/Cas9, and base editing, have significantly enhanced the generation of SCID models.

Multi-omics analysis and experimental verification reveal testicular fatty acid metabolism disorder in non-obstructive azoospermia.

Increasing evidence implicates disruptions in testicular fatty acid metabolism as a contributing factor in non-obstructive azoospermia (NOA), a severe form of male infertility. However, the precise mechanisms linking fatty acid metabolism to NOA pathogenesis have not yet been fully elucidated. Multi-omics analyses, including microarray analysis, single-cell RNA sequencing (scRNA-seq), and metabolomics, were utilized to investigate disruptions in fatty acid metabolism associated with NOA using data from public databases.

Identification of novel rodent and shrew orthohepeviruses sheds light on hepatitis E virus evolution.

The family has seen an explosive expansion in its host range in recent years, yet the evolutionary trajectory of this zoonotic pathogen remains largely unknown. The emergence of rat hepatitis E virus (HEV) has introduced a new public health threat due to its potential for zoonotic transmission. This study investigated 2 464 wild small mammals spanning four animal orders, eight families, 21 genera, and 37 species in Yunnan Province, China.

DNA2 knockout aggravates cerebral ischemia/reperfusion injury by reducing postsynaptic Homer1a.

DNA2, a multifunctional enzyme with structure-specific nuclease, 5 -to-3 helicase, and DNA-dependent ATPase activities, plays a pivotal role in the cellular response to DNA damage. However, its involvement in cerebral ischemia/reperfusion (I/R) injury remains to be elucidated. This study investigated the involvement of DNA2 in cerebral I/R injury using conditional knockout (cKO) mice ( -Cre) subjected to middle cerebral artery occlusion (MCAO), an established model of cerebral I/R.

Infarct core segmentation using U-Net in CT perfusion imaging: a feasibility study.

Background: The wide variability in thresholds on computed tomography (CT) perfusion parametric maps has led to controversy in the stroke imaging community about the most accurate measurement of core infarction.

Purpose: To investigate the feasibility of using U-Net to perform infarct core segmentation in CT perfusion imaging.

Material And Methods: CT perfusion parametric maps were the input of U-Net, while the ground truth segmentation was determined based on diffusion-weighted imaging (DWI).

The effect of physical cues on platelet storage lesion.

Background: Platelet concentrates play an important role in clinical treatment such as platelet function disorders and thrombocytopenia. In the process of preparation and storage of platelets, centrifugation, leukofiltration, and agitation will cause morphological changes and impaired function of platelets, which is associated with the increase of platelet transfusion refractoriness, and named as platelet storage lesion (PSL).

Method: This paper proposes three major operations (centrifugation, agitation, and leukofiltration) that platelets experience during the preparation and storage process, to explore the effect of physical cues on PSL.

3D MRI with CT-like bone contrast (3D-BONE): a pictorial review of clinical applications.

Background: Computed tomography (CT) is the gold standard imaging modality for the assessment of 3D bony morphology but incurs the cost of ionizing radiation exposure. High-resolution 3D magnetic resonance imaging (MRI) with CT-like bone contrast (CLBC) may provide an alternative to CT in allowing complete evaluation of both bony and soft tissue structures with a single MRI examination.

Purpose: To review the technical aspects of an optimized stack-of-stars 3D gradient recalled echo pulse sequence method (3D-Bone) in generating 3D MR images with CLBC, and to present a pictorial review of the utility of 3D-Bone in the clinical assessment of common musculoskeletal conditions.

Alveolar Bone Quality in Individuals With Cleft Lip and Palate With Missing Lateral Incisors: Orthodontic Space Closure Versus Space Opening.

The purpose of this study was to quantitatively assess the alveolar bone support of teeth adjacent to the cleft site in individuals with nonsyndromic cleft lip and palate (CLP) who have undergone either orthodontic space closure or space opening for missing lateral incisors. A cross-sectional retrospective study. University orthodontic clinic serving individuals with CLP.

Dementia and epilepsy without traumatic brain injury among subjects middle-aged females: a population-based case-control study.

Although the association between dementia such as Alzheimer's disease and traumatic brain injury (TBI) is well established, there are significant knowledge gaps with respect to the perspective of dementia and epilepsy without TBI. We aimed to investigate the relationship between dementia and epilepsy in a population-based study of patients without history of TBI. This study included a random sample of 30,715 patients with no history of TBI, including 6143 with epilepsy as the study cohort and 24,572 without epilepsy as the comparison cohort.