ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Individuals carrying pathogenic variants in ACTC1 present with several cardiac phenotypes, including hypertrophic cardiomyopathy, dilated cardiomyopathy, and left ventricular noncompaction cardiomyopathy. In the current work, we expand the clinical and genetic spectrum of phenotypes caused by ACTC1 genetic variants by describing two individuals with heterozygous variants involving residues Gly57 or Glu101. These individuals presented with facial dysmorphism, short stature, and skeletal anomalies in addition to hypertrophic and left ventricular noncompaction cardiomyopathies.

Impact of Spatial Presence on Charitable Behavior in the Metaverse: A Moderated Mediation Model of Norm Message and Involvement with Charity.

With the rapid development of virtual technology, the metaverse has become an influential communication tool driving engagement in prosocial behavior. This study examined whether spatial presence in a metaverse affects charitable involvement and prosocial behavior. Additionally, it explored the impact of descriptive norms in the metaverse, validated as effective in the physical world.

Orange maker: a CRISPR/Cas9-mediated genome editing and screening project to generate orange-eyed DarkJedi GAL4 lines by undergraduate students.

One of the greatest strengths of Drosophila genetics is its easily observable and selectable phenotypic markers. The mini-white marker has been widely used as a transgenic marker for Drosophila transgenesis. Flies carrying a mini-white construct can exhibit various eye colors ranging from pale orange to intense red, depending on the insertion site and gene dosage.

Data-Driven Rendering of Motion Effects for Walking Sensations in Different Gaits.

Motion effects are a vital component in 4D interactive applications, where special physical effects, such as motion, vibration, and wind, are provided with audiovisual stimuli. In 4D films and VR games, the scenes that show human locomotion appear frequently, and motion effects emphasizing such movements can enhance the viewers' immersive experiences. This paper proposes a data-driven framework for automatic generation of the motion effects that provide users with walking sensations.

MAX-Phase Films Overcome Scaling Limitations to the Resistivity of Metal Thin Films.

Metal thin films have been widely used as conductors in semiconductor devices for several decades. However, the resistivity of metal thin films such as Cu and TiN increases substantially (>1000%) as they become thinner (<10 nm) when using high-density integration to improve device performance. In this study, the resistivities of MAX-phase VAlC films grown on sapphire substrates exhibited a significantly weaker dependence on the film thickness than conventional metal films that resulted in a resistivity increase of only 30%, as the VAlC film thickness decreased from approximately 45 to 5 nm.

A visually distinguishable light interfering bioresponsive silica nanoparticle hydrogel sensor fabricated through the molecular imprinting technique.

Methods of the early detection of diseases are based on recognition of the smallest change in the levels of a disease-specific biomarker in body fluids. Among them, monitoring protein concentrations is crucial because most diseases are caused by dysregulated protein levels, rather than DNA or RNA levels. Recent studies have indicated that the proteins in the aqueous humor can be used as biomarkers to predict brain diseases.

Effects of Contact Force and Vibration Frequency on Vibrotactile Sensitivity During Active Touch.

Humans require precise force control to execute fine manual tasks, which is generally facilitated to a great extent by providing adequate feedback. Currently, such dexterous manual tasks can be an input source of computing. To design appropriate vibrotactile stimuli for manual tasks, it is essential to quantify human vibrotactile sensitivity over a large range of contact forces.

Spheroid-Induced Epithelial-Mesenchymal Transition Provokes Global Alterations of Breast Cancer Lipidome: A Multi-Layered Omics Analysis.

Metabolic rewiring has been recognized as an important feature to the progression of cancer. However, the essential components and functions of lipid metabolic networks in breast cancer progression are not fully understood. In this study, we investigated the roles of altered lipid metabolism in the malignant phenotype of breast cancer.

A formulated red ginseng extract inhibits autophagic flux and sensitizes to doxorubicin-induced cell death.

Background: Ginseng is believed to have antitumor activity. Autophagy is largely a prosurvival cellular process that is activated in response to cellular stressors, including cytotoxic chemotherapy; therefore, agents that inhibit autophagy can be used as chemosensitizers in cancer treatment. We examined the ability of Korean Red Ginseng extract (RGE) to prevent autophagic flux and to make hepatocellular carcinoma (HCC) cells become more sensitive to doxorubicin.

Photodynamic therapy inhibits melanogenesis through paracrine effects by keratinocytes and fibroblasts.

Photodynamic therapy (PDT) is a treatment option for skin cancer and premalignant skin diseases and exhibits rejuvenation effects, including reducing fine wrinkles and whitening, on aged skin. In this study, we investigated the mechanism underlying the whitening effects of PDT on melanocytes (MCs) in vitro and in vivo. Exposure of MCs to PDT in vitro reduced their melanin content and tyrosinase activity without, however, affecting cell survival.

Minimum hyaluronic acid (HA) modified magnetic nanocrystals with less facilitated cancer migration and drug resistance for targeting CD44 abundant cancer cells by MR imaging.

We report minimal amount of hyaluronic acid (HA) conjugated magnetic nanocrystals (mHMs) for targeted imaging of CD44 abundant breast cancer cells via MRI. These mHMs lead to less induced cancer migration and drug resistance, which is distinct from conventional approaches using nanoplatforms (imaging or therapeutic systems) that are completely covered with HA. To synthesize mHMs, magnetic nanocrystals (MNCs), as MRI contrast agents, were encapsulated mostly with polysorbate 80 (P80, non-reactive to HA) and partially with aminated P80 (reactive to HA).

Risk factors of sagittal decompensation after long posterior instrumentation and fusion for degenerative lumbar scoliosis.

Study Design: A retrospective study of clinical results of operative treatment for degenerative lumbar scoliosis.

Objective: To determine the risk factors of sagittal decompensation after long instrumentation and fusion to L5 or S1.

Summary Of Background Data: Little is known about the risk factors for sagittal decompensation, which was defined in this study as sagittal C7 plumb falling anterior >8 cm from the posterosuperior corner of the sacrum.

Hypothermia-induced changes of afferent sensory transmission to the VPM thalamus of rats and hamsters.

Effects of hypothermia on the afferent somatosensory transmission to the ventroposteromedial (VPM) thalamus were determined in anesthetized rats and hamsters. Hamsters showed a gradual suppression of afferent sensory transmission during cooling (to 18 degrees C) and disinhibition during subsequent warming of body temperature (Tb). However, rats exhibited steep inhibition from Tb 26 degrees C to complete absence of sensory transmission at Tb 20 degrees C and abrupt disinhibition during subsequent warming.