Modifiers and their impact on inherited retinal diseases: a review.

Background: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease.

COVID-19 pandemic and the neurodevelopment of Brazilian infants: Analysis of predictors according to the Nurturing Care Framework.

Introduction: Concerns have been raised about the potential negative impacts of the COVID-19 pandemic on child development; this issue can be analyzed using the Nurturing Care Framework (NCF).

Objective: To analyze the predictors of neurodevelopment at 12 months in infants born during the pandemic in Brazil, according to the NCF.

Methods: It is a longitudinal case-control study involving 284 infants born between April and August 2021.

Physical Activity and Pregnancy Norms Among Daasanach Semi-Nomadic Pastoralist Women in Northern Kenya.

Objectives: In subsistence populations, high physical activity is typically maintained throughout pregnancy. Market integration shifts activity patterns to resemble industrialized populations, with more time allocated to sedentary behavior. Daasanach semi-nomadic pastoralists living in northern Kenya face lifestyle heterogeneity due to the emergence of a market center.

Fresh produce-associated foodborne disease outbreaks in Australia, 2001 to 2017.

Fresh produce is an important source of foodborne outbreaks in Australia. Using descriptive analysis, we examined confirmed and suspected foodborne outbreaks associated with fresh produce in Australia recorded in the OzFoodNet outbreak register from 2001 to 2017. The outbreak register contains reports of foodborne disease outbreaks collected by OzFoodNet epidemiologists and public health officials.

Cardiovascular disease and stroke following cancer and cancer treatment in older adults.

Background: Cancer survivors can be at risk of cardiovascular disease (CVD) because of either their malignancy or its treatment. Although studies linking cancer and CVD exist, few examine risk in older adults, the impact of cancer treatment, or the effect of aspirin on reducing risk in this cohort.

Methods: The authors conducted a secondary analysis of the Aspirin in Reducing Events in the Elderly (ASPREE) trial to investigate the impact of cancer and cancer treatment on a composite CVD end point comprising hospitalization for heart failure (HHF), myocardial infarction (MI), and stroke.

Lack of Efficacy of JNJ-18038683 on Cognitive Impairment in Patients With Stable Bipolar Disorder.

Background: The serotonin type 7 (5-HT7) receptor is one of 14 5-HT receptors. It has received attention for its possible role in mood disorders and cognition. The 5-HT7 receptor antagonist, JNJ-18038683, has been reported to be effective in rodent models of depression and REM sleep.

Mobility ideation due to water problems during historic 2022 drought associated with livestock wealth, water and food insecurity, and fingernail cortisol concentration in northern Kenya.

Climate change is triggering environmental mobility through chronic water problems and punctuated events. Thinking about moving locations, or "mobility ideation", is the precursor to migration intentionality and actual migration. Drawing on the embodiment construct, this study examines how the worst drought in recent history in the Horn of Africa affected water-related mobility ideation and, in turn, fingernail cortisol concentration (FCC), a chronic stress biomarker, among Daasanach semi-nomadic pastoralists in northern Kenya.

Characterizing PFAS hazards and risks: a human population-based in vitro cardiotoxicity assessment strategy.

Per- and poly-fluoroalkyl substances (PFAS) are emerging contaminants of concern because of their wide use, persistence, and potential to be hazardous to both humans and the environment. Several PFAS have been designated as substances of concern; however, most PFAS in commerce lack toxicology and exposure data to evaluate their potential hazards and risks. Cardiotoxicity has been identified as a likely human health concern, and cell-based assays are the most sensible approach for screening and prioritization of PFAS.

Reducing uncertainty in dose-response assessments by incorporating Bayesian benchmark dose modeling and in vitro data on population variability.

There are two primary sources of uncertainty in the interpretability of toxicity values, like the reference dose (RfD): estimates of the point of departure (POD) and the absence of chemical-specific human variability data. We hypothesize two solutions-employing Bayesian benchmark dose (BBMD) modeling to refine POD determination and combining high-throughput toxicokinetic modeling with population-based toxicodynamic in vitro data to characterize chemical-specific variability. These hypotheses were tested by deriving refined probabilistic estimates for human doses corresponding to a specific effect size (M) in the Ith population percentile (HD ) across 19 Superfund priority chemicals.

Virtual crossmatching reveals upregulation of placental HLA-Class II in chronic histiocytic intervillositis.

Chronic histiocytic intervillositis (CHI) is a recurrent placental lesion where maternal macrophages infiltrate the intervillous space. Its cause is unknown, though due to similarities to rejected allografts one hypothesis is that CHI represents maternal-fetal rejection. Here, virtual crossmatching was applied to healthy pregnancies and those with a history of CHI.

Diversity in clinical isolates of Ictalurid herpesvirus 1 (IcHV1) from U.S. farm-raised catfish and virulence assessment in channel and channel × blue catfish hybrids.

Ictalurid herpesvirus 1 (IcHV1) is the most significant viral agent in U.S. catfish aquaculture.

Informing Hazard Identification and Risk Characterization of Environmental Chemicals by Combining Transcriptomic and Functional Data from Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes.

Environmental chemicals may contribute to the global burden of cardiovascular disease, but experimental data are lacking to determine which substances pose the greatest risk. Human-induced pluripotent stem cell (iPSC)-derived cardiomyocytes are a high-throughput cardiotoxicity model that is widely used to test drugs and chemicals; however, most studies focus on exploring electro-physiological readouts. Gene expression data may provide additional molecular insights to be used for both mechanistic interpretation and dose-response analyses.

"It frees your body from that pain thought": A mixed-methods exploration of patterns, contexts, and experiences of cannabis use for pain in rural communities.

U.S. adults increasingly report using cannabis to manage chronic pain and rural areas have inadequate comprehensive pain management.

Targeting a microbiota aminoacyl-tRNA synthetase to block its pathogenic host.

The interplay between humans and their microbiome is crucial for various physiological processes, including nutrient absorption, immune defense, and maintaining homeostasis. Microbiome alterations can directly contribute to diseases or heighten their likelihood. This relationship extends beyond humans; microbiota play vital roles in other organisms, including eukaryotic pathogens causing severe diseases.

Amyloid-PET imaging predicts functional decline in clinically normal individuals.

Background: There is good evidence that elevated amyloid-β (Aβ) positron emission tomography (PET) signal is associated with cognitive decline in clinically normal (CN) individuals. However, it is less well established whether there is an association between the Aβ burden and decline in daily living activities in this population. Moreover, Aβ-PET Centiloids (CL) thresholds that can optimally predict functional decline have not yet been established.

The brief executive language screen: sensitivity and specificity in acute to early sub-acute stroke.

Introduction: Propositional language and underlying executive functions can be impaired post-stroke and affect communication and quality of life. Current stroke screening tools are largely tailored to patients with aphasia, being either non-verbal or focussed on core language skills such as naming and repetition. The Brief Executive Language Screening Test (BELS) is a newly developed cognitive screening tool that assesses memory, oral apraxia, core language, as well as propositional language and associated executive functions that can be impacted and overlooked in stroke patients without aphasia.

Effects of vitamin D supplementation on a deep learning-based mammographic evaluation in SWOG S0812.

Deep learning-based mammographic evaluations could noninvasively assess response to breast cancer chemoprevention. We evaluated change in a convolutional neural network-based breast cancer risk model applied to mammograms among women enrolled in SWOG S0812, which randomly assigned 208 premenopausal high-risk women to receive oral vitamin D3 20 000 IU weekly or placebo for 12 months. We applied the convolutional neural network model to mammograms collected at baseline (n = 109), 12 months (n = 97), and 24 months (n = 67) and compared changes in convolutional neural network-based risk score between treatment groups.

Comparative Analysis of the Physiological and Transport Functions of Various Sources of Renal Proximal Tubule Cells Under Static and Fluidic Conditions in PhysioMimix{trade mark, serif} T12 Platform.

models that can faithfully replicate critical aspects of kidney tubule function such as directional drug transport are in high demand in pharmacology and toxicology. Accordingly, development and validation of new models is underway. The objective of this study was to characterize physiological and transport functions of various sources of human renal proximal tubule epithelial cells (RPTECs).

Accrual Quality Improvement Program for clinical trials.

Background: The Early Phase Cancer Prevention Clinical Trials Program (Consortia), led by the Division of Cancer Prevention, National Cancer Institute, supports and conducts trials assessing safety, tolerability, and cancer preventive potential of a variety of interventions. Accrual to cancer prevention trials includes the recruitment of unaffected populations, posing unique challenges related to minimizing participant burden and risk, given the less evident or measurable benefits to individual participants. The Accrual Quality Improvement Program was developed to address these challenges and better understand the multiple determinants of accrual activity throughout the life of the trial.