T cells undergo metabolic reprogramming with major changes in cellular energy metabolism during activation. In summary, the findings presented herein emphasize the role of COX particularly in T cells as a metabolic checkpoint for cell fate decisions following T cell activation, with heterogeneous effects in T cell subsets. In addition, these studies highlight the utility of translational models that recapitulate human mitochondrial disease for understanding immunometabolism.

Laminins are heterotrimeric complexes, consisting of α, β and γ subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distributions and functions.

This paper broadens the phenotypes associated with LAMA1 mutations. We demonstrate that LAMA1 deficiency can lead to alteration in cytoskeletal dynamics, which may invariably lead to alteration in dendrite growth and axonal formation. Estimation of disease prevalence based on population studies in LAMA1 reveals a prevalence of 1-20 in 1 000 000.

Bone sialoprotein (BSP) is a multifunctional extracellular matrix protein found in mineralized tissues, including bone, cartilage, tooth root cementum (both acellular and cellular types), and dentin. These analyses confirm a critical role for BSP in processes of cementogenesis and intramembranous ossification of craniofacial bone, whereas endochondral ossification in the cranial base was minimally affected and dentinogenesis was normal in Bsp(-/-) molar teeth.

During infection, hepatocytes must undergo a reprioritization of metabolism, termed metabolic reprogramming. Hepatic metabolic
reprogramming in response to infection begins within hours of infection, suggesting a mechanism closely linked to
pathogen recognition.

This work not only addresses a key component of end-organ physiology, but also raises questions about the side effects of biologics in the treatment of inflammatory diseases.

By using an immunomodulation strategy to deplete Kupffer cells, the expression of multiple genes involved in β-oxidation were improved. These findings suggest that the role of the liver as an immunologic organ is central in the pathophysiology of hepatic metabolic decompensation in inborn errors of metabolism due to respiratory viral infection.

Mucosal sites such as the intestine, oral cavity, nasopharynx, and vagina all have associated commensal flora. The surface of the eye is also a mucosal site, but proof of a living, resident ocular microbiome remains elusive. Here, a mouse model of ocular surface disease was used to reveal that commensals were present in the ocular mucosa and had functional immunological consequences.

These findings provide direct evidence that a resident commensal microbiome exists on the ocular surface and identify the cellular mechanisms underlying its effects on ocular immune homeostasis and host defense.

This study characterizes rheumatological manifestations of GATA2 deficiency. GATA2 deficiency is associated with a broad spectrum of rheumatological disease manifestations. Low total helper T lymphocyte proportions and low naïve helper T cell proportions are associated with those most at risk of overt rheumatological manifestations. Further, PPP and joint hyperextensibility may explain some of the nonimmunologically-mediated joint problems encountered in patients with GATA2 deficiency.

This catalogue suggests that rheumatological manifestations and immune dysregulation are relatively common in GATA2 deficiency.

Adoptive T cell therapy (ACT) using ex vivo–expanded autologous tumor-infiltrating lymphocytes (TILs) can mediate complete regression of certain human cancers. The impact of TIL phenotypes on clinical success of TIL-ACT is currently unclear. Using high-dimensional analysis of human ACT products, we identified a memory-progenitor CD39-negative stem-like phenotype (CD39−CD69−) associated with complete cancer regression and TIL persistence and a terminally differentiated CD39-positive state (CD39+CD69+) associated with poor TIL persistence.

Niclosamide (Nc) is an FDA-approved anthelmintic drug that was recently identified in a drug repurposing screening to possess antiviral activity against SARS-CoV-2. However, due to the low solubility and permeability of Nc, its in vivo efficacy was limited by its poor oral absorption.

This study concludes that the novel prodrug PDN can be efficiently converted to Nc in vivo and improves the systemic exposure of Nc in mice after oral administration. The developed PBPK model adequately depicts the mouse and hamster pharmacokinetic and tissue distribution profiles and highlights its potential application in the prediction of human pharmacokinetic profiles.

Research has demonstrated that solid tumor patients experience high levels of psychological distress at the time of diagnosis. While distress has been associated with many adverse clinical outcomes, little is known about how this symptom may influence the disease trajectory for cancer patients, affecting outcomes such as progression, recurrence, and survival. The purpose of this systematic review was to explore the literature linking distress with survival in solid tumor patients, which may guide future work exploring clinical outcomes as a function of distress.

The uncommon MN1-altered primary central nervous system (CNS) tumors were recently added to the World Health Organization 2021 classification under the name Astroblastoma, MN1-altered. Another term used to describe them, “High-grade neuroepithelial tumor with MN1 alteration” (HGNET-MN1), makes reference to their distinct epigenetic profile but is currently not a recommended name. In this report, we present the demographics, tumor characteristics, treatment, and outcome (including patient-reported outcomes) of three adults with MN1-altered primary CNS tumors diagnosed via genome-wide DNA methylation and RNA sequencing.

This purpose of this study is to systematically review and perform a meta-analysis of radiation associated risks of cardiovascular disease in all groups exposed to radiation with individual radiation dose estimates. Results provide evidence supporting a causal association between radiation exposure and cardiovascular disease at high dose, and to a lesser extent at low dose, with some indications of differences in risk between acute and chronic exposures, which require further investigation. The observed heterogeneity complicates a causal interpretation of these findings, although this heterogeneity is much reduced if only higher quality studies or those at moderate doses or low dose rates are considered. Studies are needed to assess in more detail modifications of radiation effect by lifestyle and medical risk factors.

This systematic review examines case reports of kratom physical dependence or addiction, focusing on assessment, diagnosis, and treatment methods and the completeness of the clinical data presented. Findings suggest that case reports involving kratom should include established standardized assessments of history and symptomatology, incorporating laboratory testing where possible. Development of best practices for treatment of kratom-associated dependence or addiction is warranted.

Collectively, the reports included in this review suggest that inflammatory pathways related to the proliferation of immune cells at the time of diagnosis and treatment are associated with frailty development and symptomology. Limited reports (one each) also implicate telomere shortening and epigenetic alterations such as perturbations in aging miRNAs as potential correlates of deficit accumulation frailty. Additionally, metabolic pathways underlying deficit accumulation frailty may be of potential value when identifying target biomarkers.

An increasing number of cancer epidemiology studies use metabolomics assays. This scoping review characterizes trends in the literature in terms of study design, population characteristics, and metabolomics approaches and identifies opportunities for future growth and improvement, including needs for standardized race and ethnicity reporting, more diverse study populations, and larger studies.

The burden of cancer and access to effective treatment are not experienced equally by all in the United States. For underserved populations that often access the health-care system when their cancers are in advanced disease stages, radiation oncology services are essential. In 2001, the National Cancer Institute’s (NCI’s) Radiation Research Program created and implemented the Cancer Disparities Research Partnership Program (CDRP). CDRP was a pioneering funding model whose goal was to increase participation of medically underserved populations in NCI clinical trials. Six CDRP awards were made over two 5-year funding periods ending in 2013, with the end-of-program accomplishments previously reported. With the current focus on addressing equity, diversity, and inclusion, the 6 principal investigators were surveyed, 5 of whom responded about the impact of CDRP on their institutions, communities, and personal career paths. This article provides a 20-year retrospective of the experiences and observations from those principal investigators that can inform those now planning, building, and implementing equity, diversity, and inclusion programs.

Sickle cell disease and beta thalassemia are some of the first targets for potentially curative cell-based therapies. Currently, bone marrow transplants, stem cell transplants, and gene therapy are being researched and utilized for people living with these hemoglobinopathies. Although these therapies are often described as curative, there is not a clear definition of what cure means for these hemoglobinopathies.

This scoping review, part of a National Institutes of Health (NIH) project and the focus for a 2022 NIH-sponsored workshop on Global Health Reciprocal Innovation, sought to identify publications describing health innovations that were researched, developed and implemented in LMICs and adapted to address similar health challenges in HICs. Our results highlighted the underexplored field of LMIC to HIC innovation transfer and exchange and lay the foundation for future research studies.

This scoping review aims to assess and outline the current literature on the pandemic’s effects on Hispanic/Latino/a immigrant mental health in the USA, identify research gaps and areas of urgent concern, and inform future research and public health interventions and guidelines.

We reviewed existing personalized, web-based, interactive decision-making tools available to guide breast cancer treatment and survivorship care decisions in clinical settings.

Over the last couple decades, the field of bioinformatics has helped spur medical discoveries that offer a better understanding of the genetic basis of disease, which in turn improve public health and save lives. Concomitantly, support requirements for molecular biology researchers have grown in scope and complexity, incorporating specialized resources, technologies, and techniques.

To address this specific need among National Institutes of Health (NIH) intramural researchers, the NIH Library hired an expert bioinformatics trainer and consultant with a PhD in biochemistry to implement a bioinformatics support program. This study traces the program from its inception in 2009 to its present form. Discussion involves the particular skills of program staff, development of content, collection of resources, associated technology, assessment, and the impact of the program on the NIH community.

Drawing upon the Federal Experts Security Advisory Panel's (FESAP's) 2014 recommendation to “strengthen a culture that emphasizes biosafety, laboratory biosecurity, and responsible conduct in the life sciences,” we undertook a comprehensive literature review of the culture of biosafety, biosecurity, and responsible conduct in the life sciences, including metrics by which to evaluate interventions at the organizational level.

The Society of Academic Emergency Medicine Disaster Medicine Interest Group, the Office of the Assistant Secretary for Preparedness and Response – Technical Resources, Assistance Center, and Information Exchange (ASPR TRACIE) team, and the National Institutes of Health Library searched disaster medicine peer-reviewed and gray literature to identify, review, and disseminate the most important new research in this field for academics and practitioners.

Smith‐Lemli‐Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol biosynthesis. Affected individuals show cholesterol deficiency and accumulation of various precursor molecules, mainly 7‐dehydrocholesterol and 8‐dehydrocholesterol. There is currently no cure for SLOS, with cholesterol supplementation being primarily a biochemical therapy of limited evidence. However, several anecdotal reports and preclinical studies have highlighted statins as a potential therapy for SLOS.

This review evaluates the effects of statins, either alone or in combination with other non‐statin therapies (e.g. cholesterol, bile acid, or vitamin co‐supplementation), compared to cholesterol supplementation alone or in combination with other non‐statin therapies (e.g. bile acid or vitamin supplementation) on several important outcomes including overall survival, neurobehavioral features, and adverse effects in individuals with SLOS.

Bibliometric analyses are commonly used to measure the productivity of researchers or institutions but rarely used to assess the scientific contribution of national surveys/datasets. We applied bibliometric methods to quantify the contributions of the National Survey of Children's Health (NSCH) and the National Survey of Children with Special Health Care Needs (NS-CSHCN) to the body of pediatric health-related research. We also examined dissemination to nonresearch audiences by analyzing media coverage of statistics and research produced from the surveys.

Fatigue is a persistent and debilitating symptom following radiation therapy for prostate cancer. However, it is not well-understood how radiation targeted to a small region of the body can lead to broad changes in behavior. In this study, we used targeted pelvic irradiation of healthy male mice to test whether inflammatory signaling mediates changes in voluntary physical activity levels. Overall, our results suggest that inflammation plays a causal role in radiation-induced fatigue and that IL-6 may be an important mediator.

The Bruton tyrosine kinase (BTK) regulates B cell and macrophage signaling, development, survival, and activation. Inhibiting BTK has been hypothesized to ameliorate lung injury in patients with severe COVID-19, however clinical outcome data is inconclusive.

To evaluate the clinical outcomes of BTK inhibitors (BTKinibs) in patients with COVID-19.

Teledentistry is used in many countries to provide oral health care services. However, using teledentistry to provide oral health care services for older adults is not well documented. This knowledge gap needs to be addressed, especially when accessing a dental clinic is not possible and teledentistry might be the only way for many older adults to receive oral health care services.

Although hepatitis B surface antigen (HBsAg) loss is considered the ideal therapeutic endpoint for the treatment of chronic hepatitis B virus (HBV) infection, its impact on clinical outcomes remains uncertain.

This review aims to assess the impact of HBsAg loss on clinical outcomes following spontaneous and treatment-related HBsAg loss.

Mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome is characterized by overlapping features of relapsing polychondritis (RP) and Behcet's disease (BD). To date, no studies have defined the clinical spectrum of disease in a cohort of patients with MAGIC syndrome.

Adult patients within an ongoing prospective, observational cohort study in RP were clinically assessed for MAGIC syndrome. A systematic review was conducted to identify additional cases of MAGIC syndrome by searching four databases: PubMed (US National Library of Medicine), Embase (Elsevier), Scopus (Elsevier) and Web of Science: Core Collection (Clarivate Analytics).

Outdoor air pollution is a known lung carcinogen, but research investigating the association between particulate matter (PM) and gastrointestinal (GI) cancers is limited.

We sought to review the epidemiologic literature on outdoor PM and GI cancers and to put the body of studies into context regarding potential for bias and overall strength of evidence.

In this paper, we outline a scoping review protocol to evaluate and synthesize preclinical and clinical primary research focused on the associations between sleep and the gut microbiome.

Salivary duct carcinoma (SDC) is a rare, aggressive malignancy with a poor prognosis. These tumors frequently stain positive for HER2/ErbB2, but data on the prognostic significance of HER2 status in SDC are mixed. We sought to determine whether HER2 status affects survival outcomes in SDC.

Schistosomiasis, a parasitic disease caused by trematodes of the genus Schistosoma, was eliminated on the island of Saint Kitts in the 1950s after an intense program that targeted the snail intermediate host and improved sanitation. However, recently, 3 cases of schistosomiasis were identified in green monkeys (Chlorocebus sabaeus) imported from Saint Kitts over a period of 5 months from December 2023 to April 2024. The 3 cases each had hepatic manifestations of the disease. In addition, one animal had disseminated disease affecting the cerebrum, cerebellum, brainstem, and lung and is the first described case of neuroschistosomiasis in a non-human primate (NHP) due to infection with Schistosoma mansoni.

This study aimed to assess treatment options that would maintain the RP mucosa and allow mice to reach their study endpoint, and to evaluate the perception of this condition as a painful or distressful event.

Historically, surgical biopsy (SB) for diagnosis of pediatric solid tumors was considered necessary to provide adequate tissue for histologic and molecular analysis. Less invasive biopsy techniques such as image-guided core needle biopsy (CNB), have shown comparable accuracy with decreased morbidity in some adult studies.

The scope of cancer survivorship in Africa remains largely unexplored. This scoping review aims to describe current survivorship-related factors and care delivery characteristics in Africa, and to provide insights that can inform a more systematic integration of survivorship care into the broader cancer care continuum.

Therefore, the primary aim of this scoping review is to provide an overview of recent studies reporting ages of onset for independent sitting and walking in typically developing children worldwide; this will be achieved by summarising how these milestones have been operationalised and evaluated, the samples from whom these data have been drawn, and the reported ages of acquisition.

The objectives of this scoping review are to systematically scope the literature on the effects of stress on biological ageing measured by epigenetic clocks in family caregivers of patients diagnosed with cancer.

This evidence scan and qualitative/quantitative crosswalk analysis looked at maternal health literature to gain a better understanding of the nuances in articulating the social determinates of health (SDoH) concepts aligned with the NIMHD Research Framework. SDoH concepts describe the multifaceted causes of health disparities, as opposed to effects that result in health outcomes.

The overall objective of this scoping review was to identify the breadth of literature testing health care delivery models or components of models to improve the management of MCC for populations that experience health disparities. The databases of CINAHL Plus, Embase, PubMed, and Scopus were searched for original articles from 2016 to 2023. Included studies had to assess a health care delivery model, intervention, approach, or strategy for improving the management of two or more chronic conditions among U.S. adults.

We examined whether this preclinical experience supports clinical trials. A systematic review of three data bases was conducted through 2/29/2024 and a meta-analysis was performed comparing niacin or NAD metabolite treatment to control in adult animal models employing microbial challenges. Fifty-six studies met inclusion criteria, with 24 published after 2019.

Breast cancer survivors are at increased risk of poor health-related quality of life (HRQOL). Clinical trials suggest physical activity interventions may improve HRQOL, however, evidence on whether these benefits extend to physical activity in real-world settings is limited. We aimed to evaluate the association between post-diagnosis recreational physical activity and HRQOL among breast cancer survivors in the observational literature and compare findings with clinical trial data.

This study explored the temporal dynamics of emotional vs neutral scene processing. Healthy adults over the age of 18 were studied. Out of 3045 studies screened, 19 met inclusion criteria for this review.  Differences in emotional vs neutral scenes can be identified starting at 250–300 ms.

This study aims to conduct a scoping review to understand the international adoption, scalability, and prognostic utility of DTR and enable solutions to incorporate antibiotic access into the DTR framework.