Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.

Identification of Anthrax as the Cause of a Cluster of Unexplained Deaths, Uganda, 2023: The Role of Metagenomic Next-Generation Sequencing and Postmortem Specimens.

Between April and November 2023, 27 unexplained human deaths that presented with swelling of the arms, skin sores with black centers, difficulty in breathing, obstructed swallowing, headaches, and other body aches were reported in Kyotera District, Uganda by the Public Health Emergency Operations Center. Subsequently, the death of cattle on farms and the consumption of carcass meat by some residents were also reported. Field response teams collected clinical/epidemiological data and autopsy samples to determine the cause of deaths.

The Impact of MRI-Defined Extent of Resection Across Meningioma DNA Methylation Groups: Re-Evaluating Surgery in the Era of Meningioma Molecular Classification.

Background And Objectives: Extent of resection (EOR) is prognostic for meningioma outcomes. DNA methylation profiling can shed light on biological drivers and therapeutic vulnerabilities. The goal of this study was to re-evaluate the impact of EOR on clinical outcomes across meningioma DNA methylation groups.

Trauma history and persistent poor objective and subjective sleep quality among midlife women.

Objectives: Whereas some work links trauma exposure to poor subjective sleep quality, studies largely rely upon limited trauma measures and self-reported sleep at one time point. It is unknown whether trauma is related to persistent poor sleep, whether associations differ based on childhood versus adulthood trauma, and whether trauma exposure is related to poorer objectively assessed sleep. We tested whether childhood or adult trauma associated with persistent poor objectively and subjectively measured sleep at two time points in midlife women.

Comparing the cost of cirrhosis to other common chronic diseases: A longitudinal study in a large national insurance database.

Background Aims: Cirrhosis prevalence is increasing, yet costs associated with its chronic, complex care are poorly understood. The aim was to characterize the costs of care for patients with cirrhosis and compare them to other chronic diseases such as heart failure (HF) and chronic obstructive pulmonary disease (COPD), for which the public health burden is better recognized.

Approach: Patients enrolled in Medicare Advantage plans from a large national insurer between 2011-2020 with cirrhosis, HF, and COPD were identified by ICD-9/-10 codes.

Increased MASH-associated liver cancer in younger demographics.

Background: The incidence of cancer and the prevalence of metabolic disease and metabolic dysfunction-associated steatotic liver disease is increasing in young adults. However, updated global data on metabolic dysfunction-associated steatohepatitis (MASH)-associated primary liver cancer (PLC) in young adults remains scarce.

Methods: This study analyzed data from the Global Burden of Disease study between 2000 and 2021 to assess the age-standardized incidence, mortality, and disability-adjusted life years rates from MASH-associated PLC in young adults (15-49 y).

Yerba mate () genome provides new insights into convergent evolution of caffeine biosynthesis.

Yerba mate (YM, ) is an economically important crop marketed for the elaboration of mate, the third-most widely consumed caffeine-containing infusion worldwide. Here, we report the first genome assembly of this species, which has a total length of 1.06 Gb and contains 53,390 protein-coding genes.

Reconsidering remission in recurrent late-life depression: clinical presentation and phenotypic predictors of relapse following successful antidepressant treatment.

Background: Late-life depression (LLD) is characterized by repeated recurrent depressive episodes even with maintenance treatment. It is unclear what clinical and cognitive phenotypic characteristics present during remission predict future recurrence.

Methods: Participants (135 with remitted LLD and 69 comparison subjects across three institutions) completed baseline phenotyping, including psychiatric, medical, and social history, psychiatric symptom and personality trait assessment, and neuropsychological testing.

Student and Physician Views of How the Dobbs Decision Affects Training and Practice Location Preferences: Cross-Sectional Questionnaire Study.

Background: By allowing for abortion bans and restrictions to take effect in the majority of US states, the 2022 Dobbs v Jackson Women's Health Organization decision portends to have lasting impacts on patient care and the physician workforce. Notably, it is already beginning to impact practice location preferences of US health care workers, evidenced by declining application rates to residency programs in abortion-restrictive states since 2022. Yet, there remains a gap in the literature regarding why this trend exists.

Sex-specific trends in educational attainment and self-rated health, 1972-2018.

This study examines sex-specific trends in self-rated health and educational attainment in the United States. We also consider how educational improvements shape trends in self-rated health and whether these associations differ by sex. We draw on 1972-2018 General Social Survey data to extend past research through the recent period when American population health has stalled or declined.

ENGAGE-TBI: adaptation of a community-based intervention to improve social participation after brain injury.

Background: Social isolation is prevalent after traumatic brain injury (TBI) and has negative implications for health and well-being. Interventions targeting social participation show promise for reducing social isolation. We adapted a social participation intervention, ENGAGE, to meet the needs of people with TBI.

Epistatic hotspots organize antibody fitness landscape and boost evolvability.

The course of evolution is strongly shaped by interaction between mutations. Such epistasis can yield rugged sequence-function maps and constrain the availability of adaptive paths. While theoretical intuition is often built on global statistics of large, homogeneous model landscapes, mutagenesis measurements necessarily probe a limited neighborhood of a reference genotype.

Latino Sexual Minority Men's Pre-Exposure Prophylaxis Modality Preferences: A Latent Class Analysis.

Pre-exposure prophylaxis (PrEP) is an effective HIV prevention tool available in several modalities (e.g., daily oral, injectable, implants, rectal douching).

Fish reproductive phenology shifts with increasing temperature and year.

Temperate fishes often spawn in response to environmental cues, such as temperature, thereby facilitating larval emergence concurrent with suitable biotic and abiotic conditions, such as plankton blooms. Climatic changes may alter the reproductive phenology of spring- and autumn-spawning freshwater fish populations. Such effects may depend on the sensitivity of reproductive phenology to ambient temperatures.

Genomic data reveal that the Cuban blue-headed quail-dove () is a biogeographic relict.

Islands are well known for their unique biodiversity and significance in evolutionary and ecological studies. Nevertheless, the extinction of island species accounts for most human-caused extinctions in recent time scales, which have accelerated in recent centuries. Pigeons and doves (Columbidae) are noteworthy for the high number of island endemics, as well as for the risks those species have faced since human arrival.

Genetic and biochemical characterization of a radical SAM enzyme required for post-translational glutamine methylation of methyl-coenzyme M reductase.

Methyl-coenzyme M reductase (MCR), the key catalyst in the anoxic production and consumption of methane, contains an unusual 2-methylglutamine residue within its active site. data show that a B12-dependent radical SAM (rSAM) enzyme, designated MgmA, is responsible for this post-translational modification (PTM). Here, we show that two different MgmA homologs are able to methylate MCR when expressed in , an organism that does not normally possess this PTM.

Oral Lipids/Fatty Acids Supplements and Eczema: What Is Known?

The pathogenesis of atopic dermatitis (AD) points to skin barrier dysfunction as a critical piece of the puzzle. Deficiencies in fatty acids and ceramides-key elements of the skin barrier-have been linked to AD. Fatty acids can be separated into omega-3 and omega-6, which can be found in a variety of foods such as fish, nuts, seeds, and even plants.

p Matching Enables Quantum Proton Delocalization in Acid-1-Methylimidazole Binary Mixtures.

Short hydrogen bonds (SHBs), characterized by donor-acceptor heteroatom separations below 2.7 Å, are prevalent in condensed-phase systems. Recently, we identified SHBs in nonaqueous binary mixtures of acetic acid and 1-methylimidazole (MIm), where electronic and nuclear quantum effects facilitate extensive proton delocalization.

FlowBack: A Generalized Flow-Matching Approach for Biomolecular Backmapping.

Coarse-grained models have become ubiquitous in biomolecular modeling tasks aimed at studying slow dynamical processes such as protein folding and DNA hybridization. These models can considerably accelerate sampling but it remains challenging to accurately and efficiently restore all-atom detail to the coarse-grained trajectory, which can be vital for detailed understanding of molecular mechanisms and calculation of observables contingent on all-atom coordinates. In this work, we introduce FlowBack as a deep generative model employing a flow-matching objective to map samples from a coarse-grained prior distribution to an all-atom data distribution.

Triphenylphosphine Oxide-Derived Anolyte for Application in Nonaqueous Redox Flow Battery.

Recent advances in redox flow batteries have made them a viable option for grid-scale energy storage, however they exhibit low energy density. One way to boost energy density is by increasing the cell potential using a nonaqueous system. Molecular engineering has proven to be an effective strategy to develop redox-active compounds with extreme potentials but these are usually challenged by resource sustainability of the newly developed redox materials.

Sequence-Defined DNA Polymers: New Tools for DNA Nanotechnology and Nucleic Acid Therapy.

ConspectusStructural DNA nanotechnology offers a unique self-assembly toolbox to construct soft materials of arbitrary complexity, through bottom-up approaches including DNA origami, brick, wireframe, and tile-based assemblies. This toolbox can be expanded by incorporating interactions orthogonal to DNA base-pairing such as metal coordination, small molecule hydrogen bonding, π-stacking, fluorophilic interactions, or the hydrophobic effect. These interactions allow for hierarchical and long-range organization in DNA supramolecular assemblies through a DNA-minimal approach: the use of fewer unique DNA sequences to make complex structures.

Microfluidics for Nanomedicine Delivery.

Nanomedicine is revolutionizing precision medicine, providing targeted, personalized treatment options. Lipid-based nanomedicines offer distinct benefits including high potency, targeted delivery, extended retention in the body, reduced toxicity, and lower required doses. These characteristics make lipid-based nanoparticles ideal for drug delivery in areas such as gene therapy, cancer treatment, and mRNA vaccines.

Outcomes for Children With Congenital Heart Disease Undergoing Ventricular Assist Device Implantation: An ACTION Registry Analysis.

Background: There are no contemporary reports that highlight the national outcomes for children with congenital heart disease (CHD) undergoing ventricular assist device (VAD) implantation.

Objectives: This study sought to evaluate differences in VAD outcomes for children with CHD to those with non-CHD as well as those with univentricular CHD to those with biventricular CHD.

Methods: Data for CHD and non-CHD patients from the multicenter ACTION (Advanced Cardiac Therapies Improving Outcomes Network) undergoing VAD implantation from April 2018 to February 2023 were included.

Heparanase 2 Modulation Inhibits HSV-2 Replication by Regulating Heparan Sulfate.

The host enzyme heparanase (HPSE) facilitates the release of herpes simplex virus type 2 (HSV-2) from target cells by cleaving the viral attachment receptor heparan sulfate (HS) from infected cell surfaces. HPSE 2, an isoform of HPSE, binds to but does not possess the enzymatic activity needed to cleave cell surface HS. Our study demonstrates that HSV-2 infection significantly elevates HPSE 2 protein levels, impacting two distinct stages of viral replication.