Recent UMass Chan Publications

Most genetic variants associated with complex traits are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterized 14,324 RNA-sequencing samples from the Trans-Omics for Precision Medicine program and performed expression and splicing quantitative trait locus (e/sQTL) analyses in six tissues and cell types, including whole blood (...

LMNA-associated congenital muscular dystrophy is a currently incurable rare genetic disorder characterized by early-onset muscle weakness, dilated cardiomyopathy, and respiratory failure, resulting from mutations in the LMNA gene. In this study, we assessed the potential of a CRISPR-mediated strategy to eliminate the mutant allele Lmna c.745CT, p.R249W using a mutation-specific guide (sg745T). Res...

CASE PRESENTATION: A 28-year-old woman with a history of cocaine and opioid use disorder presented to the emergency department with abdominal pain, nausea, and vomiting for two days. She'd had irregular bowel movements with constipation for quite some time. Physical exam was notable for diffuse peritonitis and melena on digital rectal exam. Patient had a witnessed episode of hematochezia. Computed...

CONCLUSION AND IMPLICATIONS: The accessible nature of the PREP program makes it a promising intervention to reduce perinatal maternal mental health inequities. Findings contribute to the field of family science by developing and testing one of the first prevention programs to take a family systems approach to promoting mental health during early pregnancy.

Background/Objectives: Many individuals facing food insecurity make tradeoff decisions between spending money on food or other basic needs. In addition, many engage in coping strategies to stretch food budgets or make food last longer. There is limited data on how participation in food assistance programs is associated with use of tradeoffs or coping strategies among households experiencing food i...

The cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway is a central regulator of innate immunity, sensing cytosolic DNA and initiating inflammatory signaling. Aberrant activation of this pathway drives autoimmune and inflammatory pathologies, positioning STING as a compelling therapeutic target. Here, we describe the structure-activity relationship (SAR)-guided optimizatio...

The biogenesis of multipass membrane proteins challenges the endoplasmic reticulum (ER) quality control, particularly when transmembrane segments contain polar or charged residues required for function. Fks1, the catalytic subunit of yeast β-(1,3)-glucan synthase, exemplifies this challenge because its large multipass transmembrane architecture must support glucan synthesis at the plasma membrane ...

INTRODUCTION: Mitochondrial dysfunction is recognised as a key driver of heart failure (HF) pathophysiology, contributing to oxidative stress, apoptosis, and impaired energy production in cardiomyocytes. Although therapeutic agents aimed at restoring mitochondrial function have demonstrated promise in animal models and early-phase clinical trials, their efficacy in clinical practice remains uncert...

INTRODUCTION: As Emergency Medicine (EM) training expands in Africa, integration of comprehensive and sustainable point-of-care ultrasound (POCUS) curricula and building expertise are important considerations. The objectives were to describe and assess the efficacy of a novel ultrasound curriculum for EM residents in Tanzania and POCUS quality assurance training for local faculty. Novel aspects in...

CONCLUSION: The unadjusted and age-adjusted z-score for disease activity developed using a synthetic reference population improves both the statistical and clinical usefulness of the disease activity metric. This new composite metric improves comparability across studies, clinical interpretability, and statistical modeling utility.

CONCLUSION: Zoning is a policy lever that can promote neighborhood social connectedness.

BACKGROUND: The relationship between prenatal exposure to low-level air pollution and child autism spectrum disorder (ASD) is unclear.

CONCLUSION: Type B DMCs often feature focal hyperkeratosis at the PNF. A review of type B DMC images revealed that this hyperkeratosis was mostly due to cuticle thickening, suggesting a reaction of the eponychium in response to the mass effect within the PNF. Bringing this characteristic to the attention of practicing physicians may aid in clinical diagnosis.

Rhodoquinone (RQ) is a recently discovered component of the mammalian electron transport chain (ETC) with a high degree of tissue-specificity. Currently, a lack of pure analytical standards limits efforts to precisely quantify its levels using liquid chromatography-tandem mass spectrometry (LC-MS/MS) and interrogate its biochemical functions within mammalian ETC complexes. Here, rhodoquinone-9 (RQ...

CONCLUSIONS: The medium and distal mechanical thrombectomy score is a pragmatic tool that identifies patients with distal and medium vessel occlusion most likely to benefit from EVT while minimizing risk, supporting patient-centered decisions and future trial design.

Next-generation allogeneic islet cell products-including stem cell (SC)-derived, gene-edited, and encapsulated islets-offer scalable and curative solutions to restore physiological glucose control in type 1 diabetes. The critical path to success for these complex therapies hinges on robust nonclinical pharmacology and toxicology evidence and rigorous, scalable, and well-controlled manufacturing. W...

CONCLUSIONS: Our study suggests that SNM has equal efficacy in patients with CNS pathology with OAB or urinary retention, similar to the nonneurogenic population, except in patients with dementia, who have lower rates of IPG implantation for OAB.

CONCLUSION: Specific meteorologic conditions, not just seasons, were meaningfully associated with fracture incidence, with effects differing by age and fracture type. Age-stratified weather models may improve orthopedic preparedness, resource allocation, and fall-prevention strategies. As climate change increases precipitation variability and freeze-thaw cycles, weather-fracture associations becom...

CONCLUSIONS: ACA anatomical variants do not adversely affect the safety or efficacy of endovascular treatment for DACA. With appropriate anatomical assessment and treatment selection, endovascular therapy remains effective even in the presence of complex ACA configurations.

Device-associated thrombosis remains a critical problem in cardiovascular medicine, often requiring lifelong anticoagulation therapy that paradoxically introduces significant bleeding risks. Here, we present a bioinspired passive flow routing approach that mitigates thrombosis by altering local hemodynamics to reduce stagnation, a primary hemodynamic driver of clot formation. Inspired by flow-reat...

Ginseng, a traditional medicinal herb with a favorable safety profile, has long been used to promote systemic health. Recent studies reveal that many of its beneficial effects are mediated through interactions with the gut microbiota. Microbial enzymes convert parent ginsenosides into more absorbable and bioactive metabolites such as compound K, while ginseng reciprocally remodels the microbial co...

Tumor-initiating cells (TICs) are central to cancer progression and metastasis; however, they remain challenging to target therapeutically. Here, using a breast-specific CYP4Z1-transgenic MMTV-PyMT mouse model, we show that CYP4Z1 notably accelerates tumor initiation, enlarges tumor size, promotes metastasis, and expands TIC populations. Multi-omics analyses reveal that CYP4Z1^(+) epithelial cells...

CONCLUSIONS: SBHCs serve a pediatric population that is disproportionately low-income, uninsured, and Hispanic. Children, particularly preschoolers, receive preventive healthcare at SBHCs. Given the population served, SBHCs have strong potential to address pediatric health inequities if adequately resourced, utilized, and integrated with other facilities including community health centers.

Most Mendelian diseases lack effective treatments, with current options often limited to symptomatic care rather than addressing the underlying genetic defect. In this opinion article, we argue that genetic suppressors, a specific class of modifier variants that can counteract the effects of disease-causing mutations, can identify promising new avenues for therapeutic intervention. We discuss the ...

CONCLUSIONS: PAD 2 is a promising therapeutic target in TBI, and its inhibition with AFM41a, a first-in-class PAD2-selective inhibitor, confers early neuroprotection as well as sustained cognitive benefits.

Pain care coordination is an integral part of care for veterans receiving pain treatment at the Veterans Health Administration (VHA). Pain care coordinators (PCCs) work to integrate care activities across the pain management spectrum. However, little is known about the make-up of the PCC role in contrast to other VHA care coordination positions, given the implementation of new VHA pain management ...

The Advanced combat helmet (ACH) is critical for mitigating the risk of blast-induced traumatic brain injury (bTBI). Helmet foam pads are in continuous contact with the head to provide mechanical support. They are essential for helmet bTBI mitigation effectiveness and wearing comfort. In this study, we parametrically investigate the significance of foam pad thickness and relative density on reduci...

CONCLUSIONS: Pediatric nonscaphoid carpal fractures are rare injuries, most commonly affecting adolescent males. Triquetrum fractures are the most common, while hamate fractures are most likely to be treated surgically.

CONCLUSIONS: Three distinct digital engagement phenotypes emerged. Persistently low engagement was more common among non-White and frail participants, underscoring ongoing disparities despite efforts to overcome the digital divide.

CONCLUSION: Both techniques provided effective IOP control and reduced medication burden. In this short-term preliminary study, tenonectomy may be more effective than the traditional technique. Given the small sample size and retrospective design, findings should be interpreted cautiously. More data are needed to guide optimal surgical technique.