Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.

Integrating metabolomics into the diagnosis and investigation of anthelmintic resistance.

Anthelmintic resistance (AR) in parasitic nematodes poses a global health problem in livestock and domestic animals and is an emerging problem in humans. Consequently, we must understand the mechanisms of AR, including target-site resistance (TSR), in which mutations affect drug binding, and non-target site resistance (NTSR), which involves alterations in drug metabolism and detoxification processes. Because much of the focus has been on TSR, NTSR has received less attention.

A student-community partnership to enhance cancer research training.

Background: Despite the importance of community involvement in research, little formal training in community outreach and engagement (COE) is offered to cancer research trainees. A collaboration between the Office of COE and the Office of Cancer Research Training and Education Coordination (CRTEC) at the Sidney Kimmel Comprehensive Cancer Center at Jefferson led to the COE-CRTEC Trainee Working Group, a unique program in which trainees in cancer research each created a novel COE initiative.

Methods: Four cancer research trainees were selected to serve as COE Program Liaisons (CPLs), each aligned with one of the four cancer center research programs.

Lack of correlation between parasite burden and key weight metrics in poultry infected with intestinal ascarids.

and are the most common and economically impactful nematode parasites of commercial poultry. These infections rarely cause clinical disease, but reduction in feed conversion efficiency is detected. To determine if feed conversion efficiency reductions correlate with any physiological measures independent of clinical disease, we determined if ascarid infections correlate with changes in the weights of the small intestine, liver, or total animal weight (quantitative measures of animal health).

Flow Cytometric Assessment of Malignant Hematologic Disorders.

Multiparameter flow cytometry (MPF) is an essential component of the diagnostic workup of hematologic malignancies. Recently developed tools have expanded the utility of MPF in detecting T-cell clonality and myelomonocytic dysplasia. Minimal/measurable residual disease analysis has long been established as critical in the management of B-lymphoblastic leukemia and is emerging as a useful tool in myeloid malignancies.

Quantifying the fitness effects of resistance alleles with and without anthelmintic selection pressure using Caenorhabditis elegans.

Albendazole (a benzimidazole) and ivermectin (a macrocyclic lactone) are the two most commonly co-administered anthelmintic drugs in mass-drug administration programs worldwide. Despite emerging resistance, we do not fully understand the mechanisms of resistance to these drugs nor the consequences of delivering them in combination. Albendazole resistance has primarily been attributed to variation in the drug target, a beta-tubulin gene.

Erratum: Survey of Conductive Polymers for the Fabrication of Conformation Switching Nucleic Acid-Based Electrochemical Biosensors.

[This corrects the article DOI: 10.1021/acsapm.3c02206.

Quantifying the fitness effects of resistance alleles with and without anthelmintic selection pressure using .

Albendazole and ivermectin are the two most commonly co-administered anthelmintic drugs in mass-drug administration programs worldwide. Despite emerging resistance, we do not fully understand the mechanisms of resistance to these drugs nor the consequences of delivering them in combination. Albendazole resistance has primarily been attributed to variation in the drug target, a beta-tubulin gene.

Influence of modified starches on mental performance and physical activity following an exhaustive bout of exercise.

Slow-releasing carbohydrates may delay the effects of fatigue after exhaustive exercise. The purpose of this study was to observe the influence that hydrothermally modified starches (HMS) and traditional maltodextrin (MAL) supplements had on physical endurance and mental performance following exhaustive exercise. Male participants completed a VO max and 2 days of cycling sessions using a Velotron ergometer.

The association of the Affordable Care Act with nutrient consumption in adults in the United States.

The Patient Protection and Affordable Care Act, more commonly known as the ACA, was legislation passed in the United States in 2010 to expand access to health insurance coverage for millions of Americans with a key emphasis on preventive care. Nutrition plays a critical role in overall wellness, disease prevention and resilience to chronic illness but prior to the ACA many Americans did not have adequate health insurance coverage to ensure proper nutrition. With passage of the ACA, more individuals received access to nutritional counseling through their primary care physicians as well as prescription vitamins and supplements free of charge.

Analytical Validation of Aptamer-Based Serum Vancomycin Monitoring Relative to Automated Immunoassays.

The practice of monitoring therapeutic drug concentrations in patient biofluids can significantly improve clinical outcomes while simultaneously minimizing adverse side effects. A model example of this practice is vancomycin dosing in intensive care units. If dosed correctly, vancomycin can effectively treat methicillin-resistant streptococcus aureus (MRSA) infections.

Molecular signature incorporating the immune microenvironment enhances thyroid cancer outcome prediction.

Genomic and transcriptomic analysis has furthered our understanding of many tumors. Yet, thyroid cancer management is largely guided by staging and histology, with few molecular prognostic and treatment biomarkers. Here, we utilize a large cohort of 251 patients with 312 samples from two tertiary medical centers and perform DNA/RNA sequencing, spatial transcriptomics, and multiplex immunofluorescence to identify biomarkers of aggressive thyroid malignancy.

Climate Change, Air Quality, and Pulmonary Health Disparities.

Climate change will alter environmental risks that influence pulmonary health, including heat, air pollution, and pollen. These exposures disproportionately burden populations already at risk of ill health, including those at vulnerable life stages, with low socioeconomic status, and systematically targeted by oppressive policies. Climate change can exacerbate existing environmental injustices by affecting future exposure, as well as through differentials in the ability to adapt; this is compounded by disparities in rates of underlying disease and access to health care.

Variation in anthelmintic responses are driven by genetic differences among diverse C. elegans wild strains.

Treatment of parasitic nematode infections in humans and livestock relies on a limited arsenal of anthelmintic drugs that have historically reduced parasite burdens. However, anthelmintic resistance (AR) is increasing, and little is known about the molecular and genetic causes of resistance for most drugs. The free-living roundworm Caenorhabditis elegans has proven to be a tractable model to understand AR, where studies have led to the identification of molecular targets of all major anthelmintic drug classes.

Expanding the Monolayer Scope for Nucleic Acid-Based Electrochemical Sensors Beyond Thiols on Gold: Alkylphosphonic Acids on ITO.

Electrochemical biosensors are a powerful and rapidly evolving molecular monitoring technology. Evidenced by the success of the continuous glucose monitor in managing Type 1 Diabetes, these sensors are capable of precise, accurate measurements in unprocessed biological environments. Nucleic acid-based electrochemical sensors (NBEs) are a specific type of biosensor that employs the target binding and conformational dynamics of nucleic acids for signal transduction.

Paycheck Protection Program (PPP) COVID-19 relief funding for veteran-, minority-, and women- owned dental businesses: A cross-sectional study.

Background: The Covid-19 pandemic exacerbated dental staffing shortages, which impact care delivery and ultimately oral health equity. Federal funding efforts like the Paycheck Protection Program (PPP) sought to aid traditionally underserved businesses including those owned by veterans, minority racial and ethnic groups, and women.

Objectives: (1) To examine differences in PPP funding between veteran- and nonveteran-owned dental care delivery businesses and organizations and (2) to analyze other relevant factors associated with variation in PPP funding levels for dental businesses.

Unknown Metabolite Identification Using Machine Learning Collision Cross-Section Prediction and Tandem Mass Spectrometry.

Ion mobility (IM) spectrometry provides semiorthogonal data to mass spectrometry (MS), showing promise for identifying unknown metabolites in complex non-targeted metabolomics data sets. While current literature has showcased IM-MS for identifying unknowns under near ideal circumstances, less work has been conducted to evaluate the performance of this approach in metabolomics studies involving highly complex samples with difficult matrices. Here, we present a workflow incorporating molecular formula annotation and MS/MS structure elucidation using SIRIUS 4 with experimental IM collision cross-section (CCS) measurements and machine learning CCS predictions to identify differential unknown metabolites in mutant strains of .

Neutrophil trafficking to the site of infection requires Cpt1a-dependent fatty acid β-oxidation.

Cellular metabolism influences immune cell function, with mitochondrial fatty acid β-oxidation and oxidative phosphorylation required for multiple immune cell phenotypes. Carnitine palmitoyltransferase 1a (Cpt1a) is considered the rate-limiting enzyme for mitochondrial metabolism of long-chain fatty acids, and Cpt1a deficiency is associated with infant mortality and infection risk. This study was undertaken to test the hypothesis that impairment in Cpt1a-dependent fatty acid oxidation results in increased susceptibility to infection.

An anchored experimental design and meta-analysis approach to address batch effects in large-scale metabolomics.

Untargeted metabolomics studies are unbiased but identifying the same feature across studies is complicated by environmental variation, batch effects, and instrument variability. Ideally, several studies that assay the same set of metabolic features would be used to select recurring features to pursue for identification. Here, we developed an anchored experimental design.

Optimization of Vancomycin Aptamer Sequence Length Increases the Sensitivity of Electrochemical, Aptamer-Based Sensors In Vivo.

The measurement of serum vancomycin levels at the clinic is critical to optimizing dosing given the narrow therapeutic window of this antibiotic. Current approaches to quantitate serum vancomycin levels are based on immunoassays, which are multistep methods requiring extensive processing of patient samples. As an alternative, vancomycin-binding electrochemical, aptamer-based sensors (E-ABs) were developed to simplify the workflow of vancomycin monitoring.

Using Collective Impact to Advance Birth Equity: A Comparison of Two Cross-Sector Efforts in California.

Background: Preterm birth, defined as birth at gestational age before 37 weeks, is a major public health concern with marked racial disparities driven by underlying structural and social determinants of health. To achieve population-level reductions in preterm birth and to reduce racial inequities, the University of California, San Francisco's California Preterm Birth Initiative catalyzed two cross-sector coalitions in San Francisco and Fresno using the Collective Impact (CI) approach.

Purpose: The purpose of this study is to compare two preterm birth-focused CI efforts and identify common themes and lessons learned.