The Role of Podocytes in Lupus Pathology.

Purpose Of Review: Kidney injury due to lupus nephritis (LN) is a severe and sometimes life-threatening sequela of systemic lupus erythematosus. Autoimmune injury to podocytes has been increasingly demonstrated to be a key driver of LN-related kidney injury because these cells play key roles in glomerular filtration barrier homeostasis. Irreparable podocyte injury impairs these processes and can lead to proteinuria, which is an indicator of poor prognosis in LN.

Psychosocial correlates of alcohol and substance use in college youth with type 1 diabetes.

Objective: Adolescents and young adults with chronic diseases face unique challenges during the college years and may consume alcohol and other substances to cope with stressors. This study aimed to assess the patterns of substance use and to determine psychosocial correlates of these behaviors among college youth with type 1 diabetes (T1D).

Methods: College youth with T1D were recruited via social media and direct outreach into a web-based study.

Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

A descriptive examination of rurality in the Environmental influences on Child Health Outcomes Cohort: Implications, illustrations, and future directions.

Purpose: The Environmental influences on Child Health Outcomes (ECHO) Cohort has enrolled over 60,000 children to examine how early environmental factors (broadly defined) are associated with key child health outcomes. The ECHO Cohort may be well-positioned to contribute to our understanding of rural environments and contexts, which has implications for rural health disparities research. The present study examined the outcome of child obesity to not only illustrate the suitability of ECHO Cohort data for these purposes but also determine how various definitions of rural and urban populations impact the presentation of findings and their interpretation.

Effectiveness and Safety of IVIG for the Treatment of HMGCR Immune-Mediated Necrotizing Myopathy.

Introduction/aims: Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy. We aimed to compare clinical outcomes in patients with antibodies against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) treated on immunotherapy regimens with and without maintenance intravenous immunoglobulin (IVIG). The secondary aim was to assess outcomes in a subset that received IVIG monotherapy.

Stomach and duodenal ulcer as a cause of death in patients with cancer: a cohort study.

Introduction: Non-cancer deaths are now becoming a significant threat to the health of cancer patients. Death from stomach and duodenal ulcer is linked to cancer due to the side effects of treatment and its pathogenesis. However, guidelines for identifying cancer patients at the highest risk of death from stomach and duodenal ulcer remain unclear.

Molecular profiles of blood from numerous species that differ in sensitivity to acute inflammation.

Vertebrates differ over 100,000-fold in responses to pro-inflammatory agonists such as bacterial lipopolysaccharide (LPS), complicating use of animal models to study human sepsis or inflammatory disorders. We compared transcriptomes of resting and LPS-exposed blood from six LPS-sensitive species (rabbit, pig, sheep, cow, chimpanzee, human) and four LPS-resilient species (mice, rats, baboon, rhesus), as well as plasma proteomes and lipidomes. Unexpectedly, at baseline, sensitive species already had enhanced expression of LPS-responsive genes relative to resilient species.

Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.

Psychiatric disorders are highly comorbid, heritable, and genetically correlated [1-4]. The primary objective of cross-disorder psychiatric genetics research is to identify and characterize both the shared genetic factors that contribute to convergent disease etiologies and the unique genetic factors that distinguish between disorders [4, 5]. This information can illuminate the biological mechanisms underlying comorbid presentations of psychopathology, improve nosology and prediction of illness risk and trajectories, and aid the development of more effective and targeted interventions.

Identification of shared genetic etiology of cardiovascular and cerebrovascular diseases through common cardiometabolic risk factors.

Cardiovascular diseases (CVDs) and cerebrovascular diseases (CeVDs) are closely related vascular diseases, sharing common cardiometabolic risk factors (RFs). Although pleiotropic genetic variants of these two diseases have been reported, their underlying pathological mechanisms are still unclear. Leveraging GWAS summary data and using genetic correlation, pleiotropic variants identification, and colocalization analyses, we identified 11 colocalized loci for CVDs-CeVDs-BP (blood pressure), CVDs-CeVDs-LIP (lipid traits), and CVDs-CeVDs-cIMT (carotid intima-media thickness) triplets.

Structural inequality linked to brain volume and network dynamics in aging and dementia across the Americas.

Structural inequality, the uneven distribution of resources and opportunities, influences health outcomes. However, the biological embedding of structural inequality in aging and dementia, especially among underrepresented populations, is unclear. We examined the association between structural inequality (country-level and state-level Gini indices) and brain volume and connectivity in 2,135 healthy controls, and individuals with Alzheimer's disease and frontotemporal lobe degeneration from Latin America and the United States.

Macular patterns of neuronal and visual field loss in recovered optic neuritis identified by machine learning.

We used machine learning to investigate the residual visual field (VF) deficits and macula retinal ganglion cell (RGC) thickness loss patterns in recovered optic neuritis (ON). We applied archetypal analysis (AA) to 377 same-day pairings of 10-2 VF and optical coherence tomography (OCT) macula images from 93 ON eyes and 70 normal fellow eyes ≥ 90 days after acute ON. We correlated archetype (AT) weights (total weight = 100%) of VFs and total retinal thickness (TRT), inner retinal thickness (IRT), and macular ganglion cell-inner plexiform layer (GCIPL) thickness.

Aperiodic spectral slope tracks the effects of brain state on saliency responses in the human auditory cortex.

Alteration of responses to salient stimuli occurs in a wide range of brain disorders and may be rooted in pathophysiological brain state dynamics. Specifically, tonic and phasic modes of activity in the reticular activating system (RAS) influence, and are influenced by, salient stimuli, respectively. The RAS influences the spectral characteristics of activity in the neocortex, shifting the balance between low- and high-frequency fluctuations.

The Financial Burden of Localized and Metastatic Bladder Cancer.

Background And Objective: Bladder cancer (BCa) imposes a substantial economic burden on health care systems and patients. Understanding these financial implications is crucial for effective resource allocation and optimization of treatment cost effectiveness. Here, we aim to systematically review and analyze the financial burden of BCa from the health care and patient perspectives.

Emergency department utilization patterns for pediatric urinary stone patients in the United States.

Background: The prevalence of pediatric urolithiasis has increased rapidly, leading to more emergency department (ED) visits across the United States.

Objective: The purpose of this study was to determine emergency care practices for children and adolescents with urinary stones and characteristics associated with management.

Methods: We performed a cross-sectional study of the 2021 Nationwide Emergency Department Sample to identify pediatric patients (≤21 years) presenting to an ED in the United States with a primary diagnosis of urinary stone disease.

A comprehensive review of massive transfusion and major hemorrhage protocols: origins, core principles and practical implementation.

Until the beginning of the century, bleeding management was similar in elective surgeries or exsanguination scenarios: clotting tests were used to guide blood product orders and, while awaiting these results, an aggressive resuscitation with crystalloids was recommended. The high mortality rate in severe hemorrhages managed with this strategy endorsed the need for a special resuscitation plan. As a result, modifications were recommended to develop a new clinical approach to these patients, called "Damage Control Resuscitation".

Current Approaches to Optimize Donor Heart for Transplantation.

Heart transplantation remains a critical therapy for patients with end-stage heart failure, offering incremental survival and improved quality of life. One of the key components behind the success of heart transplantation is the condition and preservation of the donor heart. In this review, we provide a comprehensive overview of ischemic reperfusion injury, risk factors associated with primary graft dysfunction, current use of various preservation solutions for organ procurement and recent advancements in donor heart procurement technologies.

Cholangiocarcinoma Targeted Therapies: Mechanisms of Action and Resistance.

Cholangiocarcinoma is an aggressive bile duct malignancy with heterogeneous genomic features. Although most patients receive standard-of-care chemotherapy/immunotherapy, genomic changes that can be targeted with established or emerging therapeutics are common. Accordingly, precision medicine strategies are transforming the next-line treatment for patient subsets.

Do female and male chests feel the same? A comprehensive quantitative sensory analysis.

Introduction: There is growing interest in understanding chest sensory function due to the significant morbidity associated with impaired sensation following nerve injury. While the baseline quantitative sensory and pain thresholds in female and male patients have been studied in various other anatomic areas, there is little knowledge on quantitative sensation at the chest as well as the presence of possible gender differences. Therefore, this study aimed to conduct a comprehensive quantitative sensory analysis to determine if female and male chests feel the same.

Optimizing Ewing Sarcoma and Osteosarcoma Biopsy Acquisition: A Children's Oncology Group Bone Tumor Committee Consensus Statement.

Trends in diagnostic biopsy sample collection approaches for primary bone sarcomas have shifted in the past 2 decades. Although open/incisional biopsies used to be the predominant approach to obtain diagnostic material for Ewing sarcoma and osteosarcoma, image-guided core needle biopsies have increased in frequency and are safe for patients. These procedures are less invasive and reduce recovery times but have potential limitations.

Cortical lesions impact cognitive decline in multiple sclerosis via volume loss of nonlesional cortex.

Objective: To assess the interrelationship between cortical lesions and cortical thinning and volume loss in people with multiple sclerosis within cortical networks, and how this relates to future cognition.

Methods: In this longitudinal study, 230 people with multiple sclerosis and 60 healthy controls underwent 3 Tesla MRI at baseline and neuropsychological assessment at baseline and 5-year follow-up. Cortical regions (N = 212) were divided into seven functional networks.

More Than Body Parts: A New Ethos of Anatomy Education.

A new ethos of anatomy education goes beyond the learning of body parts in the traditional curriculum. In the traditional curriculum, the focus of only providing information on the structure of the human body left certain learning opportunities overlooked, marginalized, or dismissed as irrelevant; thus, opportunities to foster and shape professional attributes in health care learners were lost. Furthermore, changes in curricula structures and reductions in anatomy teaching hours have necessitated a transformation in how anatomy education is perceived and delivered.

Adults With Head and Neck Burns Experience Worse Long-Term Outcomes and Require More Reconstructive Surgeries: A Burn Model System Study.

Background: Adults living with head and neck burn injuries experience psychosocial consequences due to scarring as well as functional disabilities. However, the impact of head and neck burns on long-term self-reported psychosocial outcomes, return to work, and need for reconstructive surgery has not been well described. This study investigates the unique longitudinal problems in psychosocial and functional recovery faced by adults with head and neck burn injuries.