JACC Adv
September 2025
Background: Adult congenital heart disease (ACHD) individuals have increased risk of noncardiac comorbidities including cancer and infections. Whether they are at increased risk of autoimmunity is unknown.
Objectives: The purpose of this study was to understand the association of ACHD and risk for autoimmunity.
Proc Natl Acad Sci U S A
September 2025
Understanding host factors driving asymptomatic versus severe disease outcomes is of key importance if we are to control emerging and re-emerging viral infections. HLA-B*15:01 has been associated with asymptomatic SARS-CoV-2 infection in nonhospitalized individuals of European ancestry, with protective immunity attributed to preexisting cross-reactive CD8 T-cells directed against HLA-B*15:01-restricted Spike-derived S peptide (B15/SCD8 T-cells). However, fundamental questions remained on the abundance and clonotypic nature of CD8 T-cell responses in HLA-B*15:01-positive patients who succumbed to life-threatening COVID-19.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
August 2025
Background: Recent studies suggest that the diabetes might be associated with higher risk for primary open angle glaucoma (POAG) and Alzheimer's disease (AD). However, studies have not addressed the critical issue of confounding by indication, and associations have not been evaluated in a large cross-sectional study. We started this cross-sectional study included United Kingdom Biobank (UKBB) participants with complete data (2006-2010) for analysis to explore the associations between diabetes mellitus (DM) and POAG and AD by considering depression and diabetic retinopathy (DR) as intermediate factors.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
August 2025
Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, we show that a recurrent de novo missense variant in (epithelial membrane protein 2), which encodes a cell surface tetraspan protein in the growth-arrest specific 3 (GAS3)/peripheral myelin protein 22 (PMP22) family, is associated with a Mendelian skin disorder in the progressive symmetric erythrokeratoderma spectrum. The disorder features severely thickened, red, and scaly skin at sites of wound healing or repetitive movement including on the face, genitals, flexural areas, and the palms and soles.
View Article and Find Full Text PDFZine-making can facilitate our remembering of origin stories and experiential knowledge around our differential racializations within coloniality; it can illuminate who we are in relation to systemic racism and power and, importantly, how we might work toward liberatory futures for self and community. In this article, we describe how psychology can be transformed through zines and zine-making. As expressions of insurgencies, resistance, and protest, zines are self-publications that often comprise "writing, photography, collage, illustration and/or other creative work" (Watson & Bennett, 2021, p.
View Article and Find Full Text PDFSynaptic strength can vary greatly between synapses. Optical quantal analysis at Drosophila glutamatergic motor neuron synapses shows that short-term plasticity also varies greatly between synapses, even those made by an individual motor neuron. Strong and weak synapses are randomly distributed in the motor neuron nerve terminal, as are facilitating and depressing synapses.
View Article and Find Full Text PDFHead and neck cancer affects millions worldwide. The risk factors are numerous, including smoking, alcohol consumption, and human papillomavirus to name a few. While improved preventative, diagnostic, and treatment methods have decreased mortality rates, the treatments (chemotherapy, radiotherapy, or surgery) often result in smell and/or taste impairments.
View Article and Find Full Text PDFObjective: To explore the impact of menopause for age at diagnosis (AAD) of glaucoma in women and illustrate its interaction with the apolipoprotein E () E4 allele.
Design: A retrospective, case-only analysis using the UK Biobank participants with complete data (2006-2010) for analysis.
Participants: One thousand three hundred fifty-eight female glaucoma patients.
Biosaf Health
April 2024
Chicken is an important food animal worldwide and plays an important role in human life by providing meat and eggs. Despite recent significant advances in gut microbiome studies, a comprehensive study of chicken gut bacterial, archaeal, and viral genomes remains unavailable. In this study, we constructed a chicken multi-kingdom microbiome catalog (CMKMC), including 18,201 bacterial, 225 archaeal, and 33,411 viral genomes, and annotated over 6,076,006 protein-coding genes by integrating 135 chicken gut metagenomes and publicly available metagenome-assembled genomes (MAGs) from ten countries.
View Article and Find Full Text PDFRare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Norepinephrine in vertebrates and its invertebrate analog, octopamine, regulate the activity of neural circuits. We find that, when hungry, larvae switch activity in type II octopaminergic motor neurons (MNs) to high-frequency bursts, which coincide with locomotion-driving bursts in type I glutamatergic MNs that converge on the same muscles. Optical quantal analysis across hundreds of synapses simultaneously reveals that octopamine potentiates glutamate release by tonic type Ib MNs, but not phasic type Is MNs, and occurs via the G-coupled octopamine receptor (OAMB).
View Article and Find Full Text PDFConventional drug formulations release active pharmaceutical ingredients (APIs) immediately after administration, while long-acting (LA) drug products are designed for prolonged therapeutic effects, thereby reducing administration frequency and improving patient compliance. The development of LA therapeutics for chronic disease treatment has significantly helped patients adhere to their regimens, reducing the need for daily doses and easing the burden on healthcare systems. Advances in treatment have transformed Human Immunodeficiency Virus (HIV) into a manageable chronic disease, and efforts are underway to eliminate HIV in the future.
View Article and Find Full Text PDFMatern Health Neonatol Perinatol
October 2024
Background: To describe the impact on maternal and perinatal outcomes of the Delta variant of COVID-19 compared to the pre-Delta period in pregnant women with COVID-19 infections in one large public, non-profit hospital system.
Methods: We conducted a retrospective chart review of identified COVID-19 diagnosed pregnant women with the outcome of pregnancy (livebirth or stillbirths). We assessed maternal and perinatal outcomes between the pre-delta and Delta variant time periods.
The inactivated COVID-19 vaccine has demonstrated high efficacy in the general population through extensive clinical and real-world studies. However, its effectiveness in immunocompromised individuals, particularly those living with HIV (PLWH), remains limited. In this study, 20 PLWH and 15 HIV-seronegative individuals were recruited to evaluate the immunogenicity of an inactivated COVID-19 vaccine in PLWH through a prospective cohort study.
View Article and Find Full Text PDFThroughout history, the influenza A virus has caused numerous devastating global pandemics. Macrophages, as pivotal innate immune cells, exhibit a wide range of immune functions characterized by distinct polarization states, reflecting their intricate heterogeneity. In this study, we employed the time-resolved single-cell sequencing technique coupled with metabolic RNA labelling to elucidate the dynamic transcriptional changes in distinct polarized states of bone marrow-derived macrophages (BMDMs) upon infection with the influenza A virus.
View Article and Find Full Text PDFOphthalmol Glaucoma
January 2025
Objective: To explore the impact of the apolipoprotein E (APOE) E4 allele in the gender-specific aging process in glaucoma by illustrating the interaction between risk factors, including the APOE E4 allele, gender, and intraocular pressure (IOP), for age at diagnosis (AAD) of glaucoma.
Design: A cross-sectional study included UK Biobank participants with complete data (2006-2010) for analysis. Data were analyzed in December 2023.
Neurorehabil Neural Repair
September 2024
Background: Walking abnormalities in people with Parkinson's disease (PD) are characterized by a shift in locomotor control from healthy automaticity to compensatory, executive control, mainly located in the prefrontal cortex (PFC). Although PFC activity during walking increases in people with PD, the time course of PFC activity during walking and its relationship to clinical or gait characteristics is unknown.
Objective: To identify the time course of PFC activity during walking in people with PD.
The Journal of Counseling Psychology serves as the premier journal for critical and rigorous research within the field and beyond. In their inaugural editorial for Journa, Liu is joined by their associated editors and inaugural JCP fellows who have agreed to share authorship and their positionalities. In considering the Journal of Counseling Psychology for research, the editors encourage authors to reflect on these positionalities and how they might integrate their own into their publications.
View Article and Find Full Text PDFBackground: Robot-guided lumbar spine surgery has evolved rapidly with evidence to support its utility and feasibility compared with conventional freehand and fluoroscopy-based techniques. The objective of this study was to assess trends among the top 25 most-cited articles pertaining to robotic-guided lumbar spine surgery.
Methods: An "advanced document search" using Boolean search operator terms was performed on 16 November 2022 through the Web of Science and SCOPUS citation databases to determine the top 25 most-referenced articles on robotic lumbar spine surgery.
Identification and morphological analysis of mitochondria-ER contacts (MERCs) by fluorescent microscopy is limited by subpixel resolution interorganelle distances. Here, the membrane contact site (MCS) detection algorithm, MCS-DETECT, reconstructs subpixel resolution MERCs from 3D super-resolution image volumes. MCS-DETECT shows that elongated ribosome-studded riboMERCs, present in HT-1080 but not COS-7 cells, are morphologically distinct from smaller smooth contacts and larger contacts induced by mitochondria-ER linker expression in COS-7 cells.
View Article and Find Full Text PDFBackground: Balance impairments, that lead to falls, are one of the main symptoms of Parkinson's disease (PD). Telerehabilitation is becoming more common for people with PD; however, balance is particularly challenging to assess and treat virtually. The feasibility and efficacy of virtual assessment and virtual treatment of balance in people with PD are unknown.
View Article and Find Full Text PDFHum Mol Genet
December 2023
Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This observation supports the concept that monogenic neurodevelopmental disorders are systemic diseases that profoundly impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2.
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