Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.

Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively. The resulting impaired mitochondrial metabolism leads to sensorimotor neurodegeneration and symptoms including muscle weakness, respiratory difficulty, and sensorineural deafness. Although over 70% of patients with RTD improve following high-dose riboflavin supplementation, remaining patients either stabilise or continue to deteriorate.

What research evidence is required on violence against women to inform future pandemic preparedness? A scoping review of the research evidence and gaps.

Introduction: Violence against women (VAW) during the COVID-19 pandemic was described as the 'shadow pandemic' with an increase in reports of VAW. As countries now focus on becoming more resilient to future pandemics, it is critical to understand what we learnt about evidence on VAW burden, prevention, and response during the COVID-19 pandemic. The WHO commissioned this scoping review to gain an understanding of the research evidence on VAW during COVID-19 and to inform future pandemic preparedness efforts.

Effective method to mitigate impact of rain or snowmelt sewer flushing events on wastewater-based surveillance measurements.

Wastewater-based surveillance (WBS) is increasingly used for monitoring disease targets in wastewaters around the world. This study, performed in Ottawa, Canada, identifies a decrease in SARS-CoV-2 wastewater measurements during snowmelt-induced sewer flushing events. Observations first revealed a correlation between suppressed viral measurements and periods of increased sewage flowrates, air temperatures above 0 °C during winter months, and solids mass flux increases.

Urban wastewater contains a functional human antibody repertoire of mucosal origin.

Wastewater-based surveillance of human disease offers timely insights to public health, helping to mitigate infectious disease outbreaks and decrease downstream morbidity and mortality. These systems rely on nucleic acid amplification tests for monitoring disease trends, while antibody-based seroprevalence surveys gauge community immunity. However, serological surveys are resource-intensive and subject to potentially long lead times and sampling bias.

Negative regulation of activation-induced cytidine deaminase gene transcription in developing B cells by a PU.1-interacting intronic region.

Activation-induced cytidine deaminase (AID, encoded by Aicda) plays a key role in somatic hypermutation and class switch recombination in germinal center B cells. However, off-target effects of AID are implicated in human leukemia and lymphoma. A mouse model of precursor B cell acute lymphoblastic leukemia driven by deletion of the related transcription factors PU.

Encouragement vs. liability: How prompt engineering influences ChatGPT-4's radiology exam performance.

Large Language Models (LLM) like ChatGPT-4 hold significant promise in medical application, especially in the field of radiology. While previous studies have shown the promise of ChatGTP-4 in textual-based scenarios, its performance on image-based response remains suboptimal. This study investigates the impact of prompt engineering on ChatGPT-4's accuracy on the 2022 American College of Radiology In Training Test Questions for Diagnostic Radiology Residents that include textual and visual-based questions.

Avoided metallicity in a hole-doped Mott insulator on a triangular lattice.

Doping of a Mott insulator gives rise to a wide variety of exotic emergent states, from high-temperature superconductivity to charge, spin, and orbital orders. The physics underpinning their evolution is, however, poorly understood. A major challenge is the chemical complexity associated with traditional routes to doping.

The Lorenz ratio as a guide to scattering contributions to transport in strongly correlated metals.

In many physical situations in which many-body assemblies exist at temperature , a characteristic quantum-mechanical time scale of approximately [Formula: see text] can be identified in both theory and experiment, leading to speculation that it may be the shortest meaningful time in such circumstances. This behavior can be investigated by probing the scattering rate of electrons in a broad class of materials often referred to as "strongly correlated metals". It is clear that in some cases only electron-electron scattering can be its cause, while in others it arises from high-temperature scattering of electrons from quantized lattice vibrations, i.

Selective induction of senescence in cancer cells through near-infrared light treatment via mitochondrial modulation.

Photobiomodulation, utilising non-ionising light in the visible and near-infrared (NIR) spectrum, has been suggested as a potential method for enhancing tissue repair, reducing inflammation and possibly mitigating cancer-therapy-associated side effects. NIR light is suggested to be absorbed intracellularly, mainly by chromophores within the mitochondria. This study examines the impact of 734 nm NIR light on cellular senescence.

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.

Objectives: Cox10 is an enzyme required for the activity of cytochrome c oxidase. Humans who lack at least one functional copy of Cox10 have a form of Leigh Syndrome, a genetic disease that is usually fatal in infancy. As more human genomes are sequenced, new alleles are being discovered; whether or not these alleles encode functional proteins remains unclear.

Capability and reliability of deep learning models to make density predictions on low-dose mammograms.

Purpose: Breast density is associated with the risk of developing cancer and can be automatically estimated using deep learning models from digital mammograms. Our aim is to evaluate the capacity and reliability of such models to predict density from low-dose mammograms taken to enable risk estimates for younger women.

Approach: We trained deep learning models on standard-dose and simulated low-dose mammograms.

An original study assessing biomarker success rate in breast cancer recurrence biomarker research.

Background: Breast cancer is the second most common cause of cancer mortality worldwide. Biomarker discovery has led to advances in understanding molecular phenotyping and thus has a great potential for precision management of this diverse disease. Despite increased interest in the biomarker field, only a small number of breast cancer biomarkers are known to be clinically useful.

Measurement of changes to the menstrual cycle: A transdisciplinary systematic review evaluating measure quality and utility for clinical trials.

Despite the importance of menstruation and the menstrual cycle to health, human rights, and sociocultural and economic wellbeing, the study of menstrual health suffers from a lack of funding, and research remains fractured across many disciplines. We sought to systematically review validated approaches to measure four aspects of changes to the menstrual cycle-bleeding, blood, pain, and perceptions-caused by any source and used within any field. We then evaluated the measure quality and utility for clinical trials of the identified instruments.

Determination of the dynamic Young's modulus of quantum materials in piezoactuator-driven uniaxial pressure cells using a low-frequency AC method.

We report on a new technique for measuring the dynamic Young's modulus, E, of quantum materials at low temperatures as a function of static tuning strain, ϵ, in piezoactuator-driven pressure cells. In addition to a static tuning of stress and strain, we apply a small-amplitude, finite-frequency AC (1 Hz ≲ ω ≲ 1000 Hz) uniaxial stress, σac, to the sample and measure the resulting AC strain, ϵac, using a capacitive sensor to obtain the associated modulus E. We demonstrate the performance of the new technique through proof-of-principle experiments on the unconventional superconductor Sr2RuO4, which is known for its rich temperature-strain phase diagram.

Feeding nanoparticles of copper oxide coated with lysine with or without added antagonists affects the copper status but not the performance of Holstein dairy cows.

The apparent absorption of copper (Cu) in ruminants is low, with between 0.01 and 0.07 g/g absorbed from sources such as copper oxide (CuO) under typical feeding conditions, resulting in high levels of excretion.

The impact of physical activity and exercise interventions on symptoms for women experiencing menopause: overview of reviews.

Background: Women experiencing problematic menopausal symptoms report lower health-related quality of life and greater healthcare use than women without symptoms. Not all women want to or are able to take hormone replacement therapy. Strengthening the evidence for menopause symptom-management options, including physical activity, improves agency for women.

Overfeeding copper during rearing affects the liver function and fertility of replacement dairy heifers.

Background: Oversupply of dietary copper (Cu) is common among UK dairy herds, but studies on the long-term outcomes of this oversupply are scarce.

Methods: A longitudinal study was undertaken to determine the long-term implications when 80 Holstein‒Friesian heifers with a mean (±standard error) age of 4.1 ± 0.

Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia.

This study aimed to generate evidence to support psychometric validity of the modified functional Scale for the Assessment and Rating of Ataxia (f-SARA) among patients with spinocerebellar ataxia (SCA). Psychometric measurement properties and minimal change thresholds of the f-SARA were evaluated using data from a cohort of SCA subjects (recruited at Massachusetts General Hospital [MGH]; n = 33) and data from a phase 3 trial of troriluzole in adults with SCA (NCT03701399 [Study 206]; n = 217), including a subset of patients with the SCA3 genotype (n = 89). f-SARA item ceiling effects were absent within the MGH cohort, while floor effects were present.

Establishing the psychological impact of congenital upper limb differences on parents and families.

The aim of this prospective study was to report the psychological experiences of parents caring for children with a congenital upper limb difference and to compare these to population norms. Contributing factors were explored, including access to support and coping strategies. Finally, parents with a congenital upper limb difference themselves were compared to those without.