Novel variant alters splicing of in family with features of Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related and unrelated individuals with the same pathogenic variant. We report a family of five affected individuals with notable phenotypic variability who appear to have two distinct molecular causes of LDS, one attributable to a missense variant in and the other an intronic variant 6 bp upstream from a splice junction in .

Fluvial pools as reach-scale thermal regulators.

Water temperature is a fundamental driver of physical processes, metabolic rates, and habitat availability in fluvial systems. As anthropogenic activities and climate change increase river temperatures and associated thermal stress on aquatic organisms, river restoration has focused on moderating thermal regimes and creating localized cold-water refuges. Restoration of a 2.

Topical Mupirocin Treatment Reduces Interferon and Myeloid Signatures in Cutaneous Lupus Erythematous Lesions Through Targeting of Staphyloccal Species.

Objective: Cutaneous lupus erythematosus (CLE) is an inflammatory skin manifestation of systemic lupus erythematosus. Type I interferons (IFNs) promote inflammatory responses and are elevated in CLE lesions. We recently reported that CLE lesions are frequently colonized with Staphylococcus aureus.

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.

Experiences of the changing illicit drug supply among racial and ethnic minoritized people in three US states: a qualitative study.

Background: Amidst a national surge in overdose deaths among racial and ethnic minoritized people and people who use stimulants (cocaine or methamphetamines), our objective was to understand how these groups are adapting to a rapidly changing illicit drug supply.

Methods: We conducted semi-structured interviews with 64 people who use drugs and who self-identified as Black, Hispanic, Multiracial, or other Non-White race in three states (Michigan, New Jersey, and Wisconsin). Transcribed interviews were coded thematically.

Charting the Characteristics of Public Health Approaches to Preventing Violence in Local Communities: A Scoping Review of Operationalised Interventions.

Interpersonal violence is a global driver of significant physical and mental ill health. Violence prevention is now a public health priority, and there have been international calls for the development of public health approaches to address this problem. This systematic scoping review identifies the scope of the literature and characteristics of operationalised public health approaches to prevent violence in communities.

Transformation but not generation of motor images is disrupted following stimulation over the left inferior parietal lobe.

Motor imagery (MI) involves the generation, maintenance, and transformation of motor images; yet, the neural underpinnings of each stage are not well understood. Here, we investigated the role of the left inferior parietal lobe (IPL) in the stages of MI. Healthy participants (N = 20) engaged in a MI task (making judgments about hands presented on a screen; hand laterality judgment task) over two days.

High oleic soybean oil maintains milk fat and increases apparent total-tract fat digestibility and fat deposition in lactating dairy cows.

Due to the bioactive properties of oleic acid, the objective of this study was to feed high oleic soybean oil (HOSO) to lactating cows and evaluate milk production, body composition, and apparent total-tract digestibility variables. Thirty Holstein cows (n = 16 primiparous, n = 14 multiparous at 87 ± 26 DIM at the start of the trial) were used in a crossover design with periods lasting 21 d. The treatments were a control (CON) diet with no added soybean oil and a HOSO diet with 1.

Harm Reduction and Treatment Among People at High Risk of Overdose.

Importance: Rates of overdose deaths involving synthetic opioids remain high, increasingly involve stimulants combined with opioids, and are increasing rapidly in racially and ethnically minoritized communities, yet little is known about access to harm reduction and treatment services in these groups.

Objective: To characterize access and barriers to harm reduction and treatment in a racially and ethnically diverse population of people who use drugs.

Design, Setting, And Participants: A cross-sectional telephone survey of people recruited from 39 treatment, harm reduction, and social service organizations in Milwaukee County, Wisconsin; Flint and Detroit, Michigan; and statewide in New Jersey was conducted from January 30 to July 28, 2023.

Tracking and modeling the movement of Queensland fruit flies, Bactrocera tryoni, using harmonic radar in papaya fields.

Determining movement parameters for pest insects such as tephritid fruit flies is critical to developing models which can be used to increase the effectiveness of surveillance and control strategies. In this study, harmonic radar was used to track wild-caught male Queensland fruit flies (Qflies), Bactrocera tryoni, in papaya fields. Experiment 1 continuously tracked single flies which were prodded to induce movement.

Implementation and Evaluation of a Multi-level, Place-Based Tobacco Prevention and Control Program at a Minority-Serving Institution in Texas.

Multi-level, place-based interventions have proven effective at promoting a range of health behaviors, including tobacco control and discouraging the uptake of tobacco products. This paper describes the implementation and impact of a 3-year, multi-level tobacco prevention and control program at a community-college minority-serving institution (MSI) on the Texas Gulf Coast within the context of a broader multi-sector, cross-functional health coalition. The intervention studied included a tobacco-free policy, a large-scale communication campaign highlighting parts of the intervention and prevention and cessation resources.

A kinematically complex multi-articular motor skill for investigating implicit motor learning.

Here we present a task developed to probe implicit learning of a complex motor skill. This task addresses limitations related to task complexity noted in the literature for methods investigating implicit motor learning, namely the serial reaction time task and continuous tracking task. Specifically, the serial reaction time task is limited by the kinematic simplicity of the required movement and the continuous tracing task faces time-on-task confounds and limitations in the control of task difficulty.

Daylight Saving Time Transitions and Risk of Heart Attack.

Background: The health risks of daylight saving time transitions are intensely debated. Disturbed circadian rhythms and lack of sleep after transitions might increase the risk of acute myocardial infarction (AMI). The only meta-analysis on the risk of AMI has now been considerably expanded.

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 (DOCK4) through the activation of RAC1. Here, we clinically describe 7 individuals (6 males and one female) with variants in DOCK4 and overlapping phenotype of mild to severe global developmental delay.

Lupus dermal fibroblasts are proinflammatory and exhibit a profibrotic phenotype in scarring skin disease.

Fibroblasts are stromal cells known to regulate local immune responses important for wound healing and scar formation; however, the cellular mechanisms driving damage and scarring in patients with cutaneous lupus erythematosus (CLE) remain poorly understood. Dermal fibroblasts in patients with systemic lupus erythematosus (SLE) experience increased cytokine signaling in vivo, but the effect of inflammatory mediators on fibroblast responses in nonscarring versus scarring CLE subtypes is unclear. Here, we examined responses to cytokines in dermal fibroblasts from nonlesional skin of 22 patients with SLE and CLE and 34 individuals acting as healthy controls.

Exploring the rise and diversity of health and societal issues that use a public health approach: A scoping review and narrative synthesis.

There is an increase in calls across diverse issues for a "public health approach" however, it is not clear whether there is any shared understanding in approach in its conceptualisation or implementation. Our aims were to (1) identify and categorise the issues which discuss a public health approach within published literature since 2010, (2) chart the descriptions and applications of public health approaches across and within four purposively sampled categories of issues, and (3) capture any evaluations conducted. A scoping review of published literature was undertaken; Seven leading databases were searched: AMED, APA PsycInfo, ASSIA, CINAHL complete, Cochrane Library (Review), Embase, and MEDLINE for articles published between 2010 and 2022 which have applied, described or called for a "public health approach" to address any issue.

A cost-utility analysis of and testing in high-risk breast cancer patients and family members in Thailand: a cost-effective policy in resource-limited settings.

Background: Screening for germline pathogenic or variants (gBRCA) in high-risk breast cancer patients is known to be cost-effective in high-income countries. Nationwide adoption of genetics testing in high-risk breast cancer population remains poor. Our study aimed to assess gBRCA health economics data in the middle-income country setting of Thailand.