Diverse perspectives on supporting the health and wellness of people with intellectual and developmental disabilities.

Background: Persons with intellectual and/or developmental disabilities (IDD) are a growing population, frequently living with complex health conditions and unmet healthcare needs. Traditional clinical practice and research methods and measures may require adaptation to reflect their preferences.

Objective: The perspectives of people with IDD, caregivers/partners, and clinicians were obtained to provide insight into factors contributing to the health and wellness of people with IDD.

Evaluation of subretinally delivered Cas9 ribonucleoproteins in murine and porcine animal models highlights key considerations for therapeutic translation of genetic medicines.

Genetic medicines, including CRISPR/Cas technologies, extend tremendous promise for addressing unmet medical need in inherited retinal disorders and other indications; however, there remain challenges for the development of therapeutics. Herein, we evaluate genome editing by engineered Cas9 ribonucleoproteins (eRNP) in vivo via subretinal administration using mouse and pig animal models. Subretinal administration of adenine base editor and double strand break-inducing Cas9 nuclease eRNPs mediate genome editing in both species.

Role of Multimodality Imaging in Cardiac Sarcoidosis: A Retrospective Single-Center Experience.

Cardiac sarcoidosis (CS) is a rare entity characterized by granulomatous infiltration of the myocardium, which can lead to myocardial fibrosis, conduction abnormalities, and the development of heart failure, thereby elevating the risk of sudden cardiac death (SCD). While endomyocardial biopsy (EMBx) is regarded as the gold standard for diagnosis, its low sensitivity and inherent procedural risks may limit its practical application. This study retrospectively explored the role of advanced imaging modalities, specifically cardiovascular magnetic resonance imaging (CMR) and fluorodeoxyglucose positron emission tomography (FDG-PET), in the diagnosis and management of CS within a single center.

Biological Insights from RNA-RNA Interactomes in Bacteria, as Revealed by RIL-seq.

Bacteria reside in constantly changing environments and require rapid and precise adjustments of gene expression to ensure survival. Small regulatory RNAs (sRNAs) are a crucial element that bacteria utilize to achieve this. sRNAs are short RNA molecules that modulate gene expression usually through base-pairing interactions with target RNAs, primarily mRNAs.

Age and initial position affect movement biomechanics in sit to walk transitions: Lower limb muscle activity and joint moments.

Facilitating forward movement while maintaining dynamic stability during transitions like sit-to-walk (STW) requires coordination from many muscles. Age-related muscle, sensory, and neural decline can introduce compensatory biomechanics when completing STW, such as adjusting initial foot position or rising with arm support. Many previous STW studies restrict arm movement and prescribe symmetric foot positions, therefore the purpose of this study was to quantify lower limb muscle excitations and joint moments in STW transitions from four initial foot positions [symmetric, posterior offset, wide, narrow] and two arm placements [hands on knees, arms folded] in 15 younger and 15 older adults.

Altering prosthetic alignment does not affect hip and low back joint loading during sit-to-stand in people with a transtibial amputation.

People with a transtibial amputation (TTA) have greater prevalence of low back and hip joint pain compared to the general population. Altered movement, loading patterns, and neuromuscular activation during daily tasks like sit-to-stand likely contribute to these high rates of pain. In addition, muscle activation, ground reaction forces, and trunk range of motion can be affected by prosthetic alignment during sit-to-stand.

Use of a Stroke Alert Protocol and Outcomes at a Quaternary Children's Hospital.

Objective: To assess for improvement in diagnostic efficiency following implementation of an institutional pediatric stroke alert protocol at a quaternary children's hospital, and to compare characteristics of in-hospital (IH) and out-of-hospital (OH) stroke alert activations.

Study Design: We retrospectively reviewed data from pediatric stroke alerts called for children between age 1 month and 21 years of age at our quaternary children's hospital between October 2016 and October 2022 after implementation of an institutional stroke alert protocol. Generalized linear models assessed code-to-image (CTI) time over the study period, with and without interaction terms for alert location.

An Automated Cell-Free Workflow for Transcription Factor Engineering.

The design and optimization of metabolic pathways, genetic systems, and engineered proteins rely on high-throughput assays to streamline design-build-test-learn cycles. However, assay development is a time-consuming and laborious process. Here, we create a generalizable approach for the tailored optimization of automated cell-free gene expression (CFE)-based workflows, which offers distinct advantages over in vivo assays in reaction flexibility, control, and time to data.

Walking Slope and Heavy Backpacks Affect Peak and Impulsive Lumbar Joint Contact Forces.

Heavy load carriage is associated with musculoskeletal overuse injury, particularly in the lumbar spine. In addition, steep walking slopes and heavy backpacks separately require adaptation of torso kinematics, but the combined effect of sloped walking and heavy backpack loads on lumbar joint contact forces is unclear. Backpacks with hip belt attachments can reduce pressure under the shoulder straps; however, it is unknown if wearing a hip belt reduces lumbar spine forces.

Engineering a PbrR-Based Biosensor for Cell-Free Detection of Lead at the Legal Limit.

Industrialization and failing infrastructure have led to a growing number of irreversible health conditions resulting from chronic lead exposure. While state-of-the-art analytical chemistry methods provide accurate and sensitive detection of lead, they are too slow, expensive, and centralized to be accessible to many. Cell-free biosensors based on allosteric transcription factors (aTFs) can address the need for accessible, on-demand lead detection at the point of use.

A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Background: Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.

Methods: As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.

Age and initial position affect movement biomechanics in sit to walk transitions: Whole body balance and trunk control.

Maintaining dynamic balance during transitional movements like sit-to-walk (STW) can be challenging for older adults. Age-related neuromuscular decline can alter movement in STW, such as rising with greater trunk flexion, narrowing the feet, or using arms to push off. Initial foot and arm position can affect subsequent movement biomechanics, with different ground reaction forces (GRFs) that stabilize and advance the body center of mass (COM).

Comparison of predictive accuracy of knee height equations in children.

Knee height can be a proxy for height when standing height cannot be reliably measured. We compared two commonly used equations (Chumlea and Rumapea) that estimate standing height from knee height. We prospectively enrolled 210 children without scoliosis or kyphosis aged 7-12 years (mean age: 10.

The Interplay Between Cardiovascular Disease and Lung Cancer.

Cardiovascular disease (CVD) and lung cancer are among the leading causes of mortality worldwide, with a significant interplay that complicates patient management and treatment outcomes. This review explores the complex relationship between various forms of CVD - such as coronary artery disease, heart failure (HF), arrhythmias, and valvular heart disease - and lung cancer. Shared risk factors, including smoking, aging, and chronic inflammation, contribute to the co-occurrence of these conditions.

Web-based interpretation bias training to reduce anxiety: A sequential, multiple-assignment randomized trial.

Objective: Web-based cognitive bias modification for interpretation (CBM-I) can improve interpretation biases and anxiety symptoms but faces high rates of dropout. This study tested the effectiveness of web-based CBM-I relative to an active psychoeducation condition and the addition of low-intensity telecoaching for a subset of CBM-I participants.

Method: 1,234 anxious community adults (Mage = 35.

Randomized Controlled Trial Evaluating the Effectiveness of a Direct-to-Consumer Marketing Video About Patients' Right to Evidence-Based Mental Health Care.

This study evaluated the impact of a direct-to-consumer (DTC) marketing video designed to educate the public about patients' rights to evidence-based mental health care (EBMHC). Participants ( N = 632) were randomly assigned to an active DTC video condition, a control video condition, or a control condition without a video. Participants who watched the DTC video ( vs .