An exploratory qualitative assessment of patient and clinician perspectives on patient-reported outcome measures and disease-modifying therapies in adults with spinal muscular atrophy.

Objective: To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, and disease-modifying therapies in adult spinal muscular atrophy.

Design: An exploratory qualitative single-site study.

Patients: Ten adults with spinal muscular atrophy and two clinicians participated in semi-structured interviews.

Alternative antibiotic selections during the 2022 amoxicillin shortage in the US.

This study of seven pediatric hospitals identified that the amoxicillin shortage in 2022 resulted in a decline in amoxicillin suspension prescribing by 30.8% with increases in use of amoxicillin non-suspension (+7.9) and broad-spectrum antibiotics.

Metal concentrations in native and transplanted species in the Eastern Ionian Sea (Greece).

Metal concentrations (Cu, Cr, Ni, Zn, Fe, Mn, Cd, and Pb) in marine indicator species were assessed for the study of metal pollution in the Eastern Ionian Sea during the cold period of the year (December 2018 to February 2019). Limpets and sea urchins were collected from natural populations at seven coastal stations while mussels were transplanted at three near-shore stations in the study area. Mixed mesozooplankton samples were selected from a twelve-station offshore network.

Patterned wireless transcranial optogenetics generates artificial perception.

Synthesizing perceivable artificial neural inputs independent of typical sensory channels remains a fundamental challenge in the development of next-generation brain-machine interfaces. Establishing a minimally invasive, wirelessly effective, and miniaturized platform with long-term stability is crucial for creating a clinically meaningful interface capable of mediating artificial perceptual feedback. In this study, we demonstrate a miniaturized fully implantable wireless transcranial optogenetic encoder designed to generate artificial perceptions through digitized optogenetic manipulation of large cortical ensembles.

Per- and polyfluoroalkyl substances (PFAS) in floor dust from different indoor environments in Australia: Levels, variation, and human exposure risks.

Per-and polyfluoroalkyl substances (PFAS) have been a global concern in relation to human exposure. Dust has been proven to be an important source of human exposure to many groups of organic pollutants, however, no study so far has systematically evaluated human exposure to PFAS depending on time spent in different indoor environments i.e.

Thyroid hormone remodels cortex to coordinate body-wide metabolism and exploration.

Animals adapt to environmental conditions by modifying the function of their internal organs, including the brain. To be adaptive, alterations in behavior must be coordinated with the functional state of organs throughout the body. Here, we find that thyroid hormone-a regulator of metabolism in many peripheral organs-directly activates cell-type-specific transcriptional programs in the frontal cortex of adult male mice.

Understanding money-management behaviour and its potential determinants among undergraduate students: A scoping review.

Background: University students typically face acute financial pressure, which can adversely impact mental health, wellbeing, and academic outcomes. This scoping review of qualitative and quantitative studies aimed to identify distinct money-management behaviours, and psychological determinants, to inform future interventions.

Methods: Two electronic databases were searched for observational studies focusing on money-management behaviours and their correlates (in quantitative studies) or reflections on experiences of such behaviours (qualitative studies).

Germline Sequencing of DNA Damage Repair Genes in Two Hereditary Prostate Cancer Cohorts Reveals New Disease Risk-Associated Gene Variants.

Rare, inherited variants in DNA damage repair (DDR) genes have a recognised role in prostate cancer (PrCa) susceptibility. In addition, these genes are therapeutically targetable. While rare variants are informing clinical management in other common cancers, defining the rare disease-associated variants in PrCa has been challenging.

Head motion-corrected eye gaze tracking with the da Vinci surgical system.

Purpose: To facilitate the integration of point of gaze (POG) as an input modality for robot-assisted surgery, we introduce a robust head movement compensation gaze tracking system for the da Vinci Surgical System. Previous surgical eye gaze trackers require multiple recalibrations and suffer from accuracy loss when users move from the calibrated position. We investigate whether eye corner detection can reduce gaze estimation error in a robotic surgery context.

An integrated microfluidic and fluorescence platform for probing in vivo neuropharmacology.

Neurotechnologies and genetic tools for dissecting neural circuit functions have advanced rapidly over the past decade, although the development of complementary pharmacological method-ologies has comparatively lagged. Understanding the precise pharmacological mechanisms of neuroactive compounds is critical for advancing basic neurobiology and neuropharmacology, as well as for developing more effective treatments for neurological and neuropsychiatric disorders. However, integrating modern tools for assessing neural activity in large-scale neural networks with spatially localized drug delivery remains a major challenge.

BCAA-nitrogen flux in brown fat controls metabolic health independent of thermogenesis.

Brown adipose tissue (BAT) is best known for thermogenesis. Rodent studies demonstrated that enhanced BAT thermogenesis is tightly associated with increased energy expenditure, reduced body weight, and improved glucose homeostasis. However, human BAT is protective against type 2 diabetes, independent of body weight.

New onset lymphopenia in patients with relapsing multiple sclerosis switching from long-standing dimethyl fumarate treatment to diroximel fumarate: A case series.

Lymphopenia is a known adverse effect in patients with relapsing multiple sclerosis (RMS) treated with fumaric acids. We present a case series of four patients diagnosed with RMS with prolonged lymphocyte stability on dimethyl fumarate for over 1 year who developed significant lymphopenia after transitioning to diroximel fumarate. This case series highlights the need for further research to elucidate the risk of lymphopenia in patients switching between fumaric acids.

Robo-Therm, a pipeline to RNA thermometer discovery and validation.

RNA thermometers are highly structured noncoding RNAs located in the 5'-untranslated regions (UTRs) of genes that regulate expression by undergoing conformational changes in response to temperature. The discovery of RNA thermometers through bioinformatics is difficult because there is little sequence conservation among their structural elements. Thus, the abundance of these thermosensitive regulatory structures remains unclear.

An implantable device for wireless monitoring of diverse physio-behavioral characteristics in freely behaving small animals and interacting groups.

Comprehensive, continuous quantitative monitoring of intricately orchestrated physiological processes and behavioral states in living organisms can yield essential data for elucidating the function of neural circuits under healthy and diseased conditions, for defining the effects of potential drugs and treatments, and for tracking disease progression and recovery. Here, we report a wireless, battery-free implantable device and a set of associated algorithms that enable continuous, multiparametric physio-behavioral monitoring in freely behaving small animals and interacting groups. Through advanced analytics approaches applied to mechano-acoustic signals of diverse body processes, the device yields heart rate, respiratory rate, physical activity, temperature, and behavioral states.

Non-invasive biomarkers of disease activity and organ damage in ANCA-associated vasculitis: a systematic review.

Background: In anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), histopathological assessment of affected tissue is often necessary for diagnosis and assessment of disease extent. There is a requirement for validated non-invasive biomarkers to avoid the need for serial tissue biopsies.

Methods: A systematic review of scientific databases from 2012 until present was performed to identify studies fulfilling the inclusion criteria.

The Need for European Surveillance of CDI.

Since the turn of the millennium, the epidemiology of Clostridioides difficile infection (CDI) has continued to challenge. Changes in clinical presentation, severity of disease, descriptions of new risk factors and the occurrence of outbreaks all emphasised the importance of early diagnosis and standardised surveillance systems. However, a lack of consensus on case definitions, clinical guidelines and optimal laboratory diagnostics across Europe has led to the underestimation of CDI and impeded comparison between countries.

Assessing Alternative Approaches for Wound Closure in a National Pediatric Learning Health System.

Introduction: Our objective was to perform a feasibility study using real-world data from a learning health system (LHS) to describe current practice patterns of wound closure and explore differences in outcomes associated with the use of tissue adhesives and other methods of wound closure in the pediatric surgical population to inform a potentially large study.

Methods: A multi-institutional cross-sectional study was performed of a random sample of patients <18 y-old who underwent laparoscopic appendectomy, open or laparoscopic inguinal hernia repair, umbilical hernia repair, or repair of traumatic laceration from January 1, 2019, to December 31, 2019. Sociodemographic and operative characteristics were obtained from 6 PEDSnet (a national pediatric LHS) children's hospitals and OneFlorida Clinical Research Consortium (a PCORnet collaboration across 14 academic health systems).

Wireless broadband acousto-mechanical sensing system for continuous physiological monitoring.

The human body generates various forms of subtle, broadband acousto-mechanical signals that contain information on cardiorespiratory and gastrointestinal health with potential application for continuous physiological monitoring. Existing device options, ranging from digital stethoscopes to inertial measurement units, offer useful capabilities but have disadvantages such as restricted measurement locations that prevent continuous, longitudinal tracking and that constrain their use to controlled environments. Here we present a wireless, broadband acousto-mechanical sensing network that circumvents these limitations and provides information on processes including slow movements within the body, digestive activity, respiratory sounds and cardiac cycles, all with clinical grade accuracy and independent of artifacts from ambient sounds.

Calibration and Application of PUF Disk Passive Air Samplers To Assess Chlorinated Paraffins in Ambient Air in Australia, China, and Vietnam.

Ambient air samples were collected in Brisbane (Australia), Dalian (China), and Hanoi (Vietnam) during Mar 2013-Feb 2018 using polyurethane foam based passive air samplers. A sampling rate calibration experiment was conducted for chlorinated paraffins (CPs, i.e.

TET3 plays a critical role in white adipose development and diet-induced remodeling.

Maintaining healthy adipose tissue is crucial for metabolic health, requiring a deeper understanding of adipocyte development and response to high-calorie diets. This study highlights the importance of TET3 during white adipose tissue (WAT) development and expansion. Selective depletion of Tet3 in adipose precursor cells (APCs) reduces adipogenesis, protects against diet-induced adipose expansion, and enhances whole-body metabolism.

Metal Ions Modify In Vitro DNA Damage Yields with High-LET Radiation.

Cu and Co are metals known to increase DNA damage in the presence of hydrogen peroxide through a Fenton-type reaction. We hypothesized that these metals could increase DNA damage following irradiations of increasing LET values as hydrogen peroxide is a product of the radiolysis of water. The reaction mixtures contain either double- or single-stranded DNA in solution with Cu or Co and were irradiated either with X-ray, carbon-ion or iron-ion beams, or they were treated with hydrogen peroxide or bleomycin at increasing radiation dosages or chemical concentrations.