Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels.

A systematic review of factors associated with student use of campus food pantries: implications for addressing barriers and facilitating use.

Background: While campus food pantries have been important safety net programs for alleviating food insecurity among college students, factors related to accessing these vital resources have not been fully researched and summarized. This study systematically synthesized peer-reviewed literature on the predictors, barriers to, and facilitators of using campus food pantries among college students.

Methods: A search was conducted on PubMed, CINAHL Complete, PsychInfo, PsycARTICLES, and ScienceDirect in April 2023.

Chitosan-Based Hydrogels for Controlled Delivery of Asiaticoside-Rich Extracts with Wound Healing Potential.

extract is a valued plant material with known anti-inflammatory and anti-microbiological properties. Using the Design of Experiment (DoE) approach, it was possible to obtain an optimized water/alcoholic extract from , which allowed the preparation of the final material with biological activity in the wound healing process. Studies on the novel applications of in conjunction with the multifunctional chitosan carrier have been motivated by the plant's substantial pharmacological activity and the need to develop new and effective methods for the treatment of chronic wounds.

Transcriptional state dynamics lead to heterogeneity and adaptive tumor evolution in urothelial bladder carcinoma.

Intra-tumor heterogeneity contributes to treatment failure and poor survival in urothelial bladder carcinoma (UBC). Analyzing transcriptome from a UBC cohort, we report that intra-tumor transcriptomic heterogeneity indicates co-existence of tumor cells in epithelial and mesenchymal-like transcriptional states and bi-directional transition between them occurs within and between tumor subclones. We model spontaneous and reversible transition between these partially heritable states in cell lines and characterize their population dynamics.

Methods and perceptions of success for patient recruitment in decentralized clinical studies.

Patient recruitment, diversity, and retention continue to impede successful and representative clinical studies. This systematic review aims to assess the impact of decentralized methods on recruitment, retention, and diversity in recent clinical studies. A systematic search of literature reporting on recruitment in decentralized clinical studies was performed.

TRIM40 Is an Interferon-Stimulated Gene That Antagonizes RIG-I-like Receptors.

Nipah virus (NiV; genus: Henipavirus; family: ) naturally infects Old World fruit bats (family ) without causing overt disease. Conversely, NiV infection in humans and other mammals can be lethal. Comparing bat antiviral responses with those of humans may illuminate the mechanisms that facilitate bats' tolerance.

The role of hands in cross-contamination of kitchen surfaces during meal preparation.

Background: Foodborne pathogen transmission during food preparation is a common occurrence, and cross-contamination can be a contributing factor. Behaviors that lead to cross-contamination during meal preparation have not been well characterized. The study objective was to determine how hands and food handling behaviors (with a focus on handwashing and touch-based events) affect the risk of cross-contamination of kitchen surfaces and foods during meal preparation.

Interspecialty Opioid Prescribing Patterns in Ophthalmology Following Declaration of a Public Health Emergency.

Previous literature has investigated opioid prescription trends in ophthalmology at large, however, little has been done looking at differences between subspecialties. We evaluate if significant trends exist among subspecialties in opioid prescribing patterns. This study aims to illuminate potential over-usage of opioids in ophthalmology that could compromise patient quality of life.

Association of gene polymorphisms with breast cancer risk: A narrative review.

Background And Aims: Breast cancer is a multifactorial malignancy with different clinicopathological and molecular characteristics. It is the most frequent cancer in women in terms of both incidence and mortality. Matrix metallopeptidase 1 or is a zinc-dependent endopeptidase associated with several physiological processes through the modification of the extracellular matrix and tumor microenvironment.

Regional differences in firearm ownership, storage and use: results from a representative survey of five US states.

Background: Firearm access and storage practices influence risk for injury and death; however, prior research has considered only national and regional differences on these variables, overlooking state-level differences.

Objectives: To analyse and describe statewide differences in firearm ownership, storage and use in a representative sample of five US states.

Design: Variables were assessed via an online self-report survey administered between 29 April 2022 and 15 May 2022.

The Antioxidant Potential of Resveratrol from Red Vine Leaves Delivered in an Electrospun Nanofiber System.

Despite the wide pharmacological action of polyphenols, their usefulness is limited due to their low oral bioavailability, which is due to their low solubility and rapid first-pass metabolism. Red vine leaf extract is an herbal medicine containing several polyphenols, with resveratrol and polydatin as the main compounds exhibiting antioxidant and anti-inflammatory properties. In the first stage of the work, using the Design of Experiment (DoE) approach, the red vine leaf extract (50% methanol, temperature 70 °C, and three cycles per 60 min) was obtained, which showed optimal antioxidant and anti-inflammatory properties.

Advancing Healthcare: Synergizing Biosensors and Machine Learning for Early Cancer Diagnosis.

Cancer is a fatal disease and a significant cause of millions of deaths. Traditional methods for cancer detection often have limitations in identifying the disease in its early stages, and they can be expensive and time-consuming. Since cancer typically lacks symptoms and is often only detected at advanced stages, it is crucial to use affordable technologies that can provide quick results at the point of care for early diagnosis.

Prediction and design of protease enzyme specificity using a structure-aware graph convolutional network.

Site-specific proteolysis by the enzymatic cleavage of small linear sequence motifs is a key posttranslational modification involved in physiology and disease. The ability to robustly and rapidly predict protease-substrate specificity would also enable targeted proteolytic cleavage by designed proteases. Current methods for predicting protease specificity are limited to sequence pattern recognition in experimentally derived cleavage data obtained for libraries of potential substrates and generated separately for each protease variant.

Retrospective cohort study investigating synergism of air pollution and corticosteroid exposure in promoting cardiovascular and thromboembolic events in older adults.

Objective: To evaluate the synergistic effects created by fine particulate matter (PM) and corticosteroid use on hospitalisation and mortality in older adults at high risk for cardiovascular thromboembolic events (CTEs).

Design And Setting: A retrospective cohort study using a US nationwide administrative healthcare claims database.

Participants: A 50% random sample of participants with high-risk conditions for CTE from the 2008-2016 Medicare Fee-for-Service population.

PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C.

Alternative splicing (AS) has been implicated in cell cycle regulation and cancer, but the underlying mechanisms are poorly understood. The poly(U)-binding splicing factor 60 (PUF60) is essential for embryonic development and is overexpressed in multiple types of cancer. Here, we report that PUF60 promotes mitotic cell cycle and lung cancer progression by controlling AS of the cell division cycle 25C (CDC25C).

Effect of Various LED Light Qualities, Including Wide Red Spectrum-LED, on the Growth and Quality of Mini Red Romaine Lettuce (cv. Breen).

Recently, LEDs with various light qualities have been used in closed plant factories, and they are known to have different effects on the growth and quality of crops. Therefore, this study was conducted to investigate the change in growth and quality in mini red romaine lettuce using LEDs with various light qualities. Wide red spectrum (WRS)-LEDs, blue (B)-LEDs, blue + red (BR)-LEDs, red (R)-LEDs, and white (W)-LEDs were used as the artificial light sources.

The time is ripe for the renaissance of autism treatments: evidence from clinical practitioners.

Introduction: Recent changes in diagnostics criteria have contributed to the broadening of the autism spectrum disorders and left clinicians ill-equipped to treat the highly heterogeneous spectrum that now includes toddlers and children with sensory and motor issues.

Methods: To uncover the clinicians' critical needs in the autism space, we conducted surveys designed collaboratively with the clinicians themselves. Board Certified Behavioral Analysts (BCBAs) and developmental model (DM) clinicians obtained permission from their accrediting boards and designed surveys to assess needs and preferences in their corresponding fields.

Awareness of alcohol as a breast cancer risk factor and intentions to reduce alcohol consumption among U.S. young adult women.

Alcohol consumption is prevalent in young adult women and linked with breast cancer risk. Research to inform interventions targeting alcohol consumption as a breast cancer prevention strategy is limited. We examined young women's awareness of alcohol use as a breast cancer risk factor, identified correlates of awareness, and determined how awareness and conceptual predictors relate to intentions to reduce drinking.

Prevalence and predictors of skin cancer screening among a sample of US volunteer firefighters.

Background: Firefighters have a higher risk of melanoma incidence and mortality compared to the general population. In the United States (US), the National Fire Protection Association recommends all firefighters receive annual skin cancer screening through visual skin examination by a clinician. However, there is limited information on skin cancer screening practices among volunteer firefighters who comprise two-thirds of the US fire service.

Psychiatric and affective predictors of negative racial attitudes.

Negative Racial Attitudes (NRA) have been identified as major contributors to discrimination and inequalities. Previous studies of predictors of NRA have focused largely on socioeconomic, socialization, social attitudes, and personality characteristics. Yet, the potential links of psychiatric and affective indicators to NRA have received little scientific inquiry.

Investigating genetically stratified subgroups to better understand the etiology of alcohol misuse.

Alcohol misuse (AM) is highly prevalent and harmful, with theorized subgroups differing on internalizing and externalizing dimensions. Despite known heterogeneity, genome-wide association studies (GWAS) are usually conducted on unidimensional phenotypes. These approaches have identified important genes related to AM but fail to capture a large part of the heritability, even with recent increases in sample sizes.

Alternative reproductive tactics of unflanged and flanged male orangutans revisited.

In many slowly developing mammal species, males reach sexual maturity well before they develop secondary sexual characteristics. Sexually mature male orangutans have exceptionally long periods of developmental arrest. The two male morphs have been associated with behavioral alternative reproductive tactics, but this interpretation is based on cross-sectional analyses predominantly of Northwest Sumatran populations.

Efficacy of cold plasma-activated water as an environmentally friendly sanitizer in egg washing.

Eggs in the United States are typically washed using chemical sanitizers such as quaternary ammonia (QA) or chlorine. Such treatments generate wash water, which could be potentially hazardous to the environment. A novel, nonthermal sanitization technique for washing shell eggs using cold plasma-activated water (PAW) was investigated in this study.

Sampling Lasioderma serricorne (Coleoptera: Anobiidae) in 2 coffee bean warehouses in New Jersey.

Cigarette beetle, Lasioderma serricorne (F.), is one of the most common stored-product pests. We monitored their population dynamics and distribution in two coffee bean warehouses in New Jersey, USA, using pheromone traps and sticky traps during September 2018-October 2020, and light traps in 2020.

A Study of Microemulsion Systems for Transdermal Delivery of Risperidone Using Penetration Enhancers.

The aim of this study was to develop and characterize microemulsion formulations using penetration enhancers as potential transdermal delivery systems for risperidone. Initially, a simple formulation of risperidone in Propylene Glycol (PG) was prepared as a control formulation, together with formulations incorporating various penetration enhancers, alone and/or in combination, and also microemulsion formulations with various chemical penetration enhancers, were prepared and all were evaluated for risperidone transdermal delivery. An ex-vivo permeation study was carried out using human cadaver skin and vertical glass Franz diffusion cells to compare all the microemulsion formulations.