Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency. In the Sandhoff disease mouse model, rescue potential was severely reduced when HexA was introduced after disease onset. Here, we assess the effect of recombinant HexA and HexD3, a newly engineered mimetic of HexA optimized for the treatment of Tay-Sachs disease and Sandhoff disease.

Development and Validation of a Smartphone Application for Neonatal Jaundice Screening.

Importance: This diagnostic study describes the merger of domain knowledge (Kramer principle of dermal advancement of icterus) with current machine learning (ML) techniques to create a novel tool for screening of neonatal jaundice (NNJ), which affects 60% of term and 80% of preterm infants.

Objective: This study aimed to develop and validate a smartphone-based ML app to predict bilirubin (SpB) levels in multiethnic neonates using skin color analysis.

Design, Setting, And Participants: This diagnostic study was conducted between June 2022 and June 2024 at a tertiary hospital and 4 primary-care clinics in Singapore with a consecutive sample of neonates born at 35 or more weeks' gestation and within 21 days of birth.

Molecular Design of a Diketopyrrolopyrrole Conjugated Oligoelectrolyte Capable of Imaging Intracellular Vesicle Membrane Dynamics.

Conjugated oligoelectrolytes (COEs) are lipid bilayer spanning optical reporters that hold promise for delineating spatiotemporal changes in subcellular compartments. However, their ability to probe a broader range of biological processes remains restricted due to the lack of environmentally-responsive chemical functionalities. Herein, the study reports a novel COE, namely COE-KP, for monitoring spatiotemporal changes in the endolysosomal vesicles.

Identification of Osteosarcopenia by High-Resolution Peripheral Quantitative Computed Tomography.

Osteosarcopenia is a prevalent geriatric disease with a significantly increased risk of adverse outcomes than osteoporosis or sarcopenia alone. Identification of older adults with osteosarcopenia using High-Resolution Peripheral Quantitative Computed Tomography (HR-pQCT) could allow better clinical decision making. This study aimed to explore the feasibility of HR-pQCT to differentiate osteoporosis, sarcopenia, and osteosarcopenia in older adults, with a primary outcome to derive a model to distinguish older adults with osteosarcopenia from those with low bone mineral density only, and to examine important HR-pQCT parameters associated with osteosarcopenia.

The impact of solid fuel use on major depression and the buffering effect of outdoor time in the UK adults: A 12-year cohort study.

Background: This study aims to investigate age- and gender-specific effects of household solid fuels for heating on major depression and buffering effects of outdoor time in a high-income country.

Methods: Data were obtained from the UK Biobank. Participants with complete information on our studied variables and no prior diagnosis of major depression at baseline were included.

Effects of mindfulness-based cognitive therapy for Chinese adults with PTSD symptoms: protocol for a randomised controlled trial.

Introduction: Emerging evidence supports mindfulness as a potential psychotherapy for post-traumatic stress disorder (PTSD). Individuals with subthreshold PTSD experience significant impairment in their daily life and functioning due to PTSD symptoms, despite not meeting the full diagnostic criteria for PTSD in DSM-5. Mindfulness skills, including non-judgmental acceptance, attentional control and openness to experiences may help alleviate PTSD symptoms by targeting characteristics such as intensified memory processing, dysregulated hyperarousal, avoidance, and thought suppression.

Examining Sex Differences in Autism Heritability.

Importance: Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, no large population-based study has provided estimates of heritability by sex.

Survivorship After Neurocritical Care: A Scoping Review of Outcomes Beyond Physical Status.

Following intensive care unit hospitalization, survivors of acute neurological injury often experience debilitating short-term and long-term impairments. Although the physical/motor impairments experienced by survivors of acute neurological injury have been described extensively, fewer studies have examined cognitive, mental health, health-related quality of life (HRQoL), and employment outcomes. This scoping review describes the publication landscape beyond physical and/or motor sequelae in neurocritical care survivors.

Prevention of age-related neuromuscular junction degeneration in sarcopenia by low-magnitude high-frequency vibration.

Neuromuscular junction (NMJ) degeneration is one of pathological factors of sarcopenia. Low-magnitude high-frequency vibration (LMHFV) was reported effective in alleviating the sarcopenia progress. However, no previous study has investigated treatment effects of LMHFV targeting NMJ degeneration in sarcopenia.

Five-Year Clinical Trial of the Low-Concentration Atropine for Myopia Progression (LAMP) Study: Phase 4 Report.

Purpose: To evaluate (1) the long-term efficacy of low-concentration atropine over 5 years, (2) the proportion of children requiring re-treatment and associated factors, and (3) the efficacy of pro re nata (PRN) re-treatment using 0.05% atropine from years 3 to 5.

Design: Randomized, double-masked extended trial.

Cost effectiveness of nonpharmacological prevention programs for diabetes: A systematic review of trial-based studies.

Trial-based economic value of prevention programs for diabetes is inexplicit. We aimed to review the cost-effectiveness of nonpharmacological interventions to prevent type-2 diabetes mellitus (T2DM) for high-risk people. Six electronic databases were searched up to March 2022.

Age-dependent association of central blood pressure with cardiovascular outcomes: a cohort study involving 34 289 participants using the UK biobank.

Background: It remained unclear whether central blood pressures (BP) was more closely associated with cardiovascular disease (CVD) than brachial BP in different age groups.

Objectives: To investigate the age-stratified association of CVD with brachial and central BPs, and to evaluate corresponding improvement in model performance.

Methods: This cohort study included 34 289 adults without baseline CVD from the UK Biobank dataset.

Recyclable Conjugated Polyelectrolyte Hydrogels for Pseudocapacitor Fabrication.

In alignment with widespread interest in carbon neutralization and sustainable practices, we disclose that conjugated polyelectrolyte (CPE) hydrogels are a type of recyclable, electrochemically stable, and environmentally friendly pseudocapacitive material for energy storage applications. By leveraging ionic-electronic coupling in a relatively fluid medium, one finds that hydrogels prepared using a fresh batch of an anionic CPE, namely, Pris-CPE-K, exhibit a specific capacitance of 32.6 ± 6.

Chromothripsis orchestrates leukemic transformation in blast phase MPN through targetable amplification of .

Chromothripsis, the process of catastrophic shattering and haphazard repair of chromosomes, is a common event in cancer. Whether chromothripsis might constitute an actionable molecular event amenable to therapeutic targeting remains an open question. We describe recurrent chromothripsis of chromosome 21 in a subset of patients in blast phase of a myeloproliferative neoplasm (BP-MPN), which alongside other structural variants leads to amplification of a region of chromosome 21 in ∼25% of patients ('chr21amp').

The Effects of Mindfulness for Youth (MYmind) versus Group Cognitive Behavioral Therapy in Improving Attention and Reducing Behavioral Problems among Children with Attention-Deficit Hyperactivity Disorder and Their Parents: A Randomized Controlled Trial.

Introduction: There is a lack of studies evaluating mindfulness-based interventions for children with attention-deficit hyperactivity disorder (ADHD) compared with an evidence-based control. This randomized controlled trial (RCT) evaluated the effects of mindfulness for youth (MYmind) in improving children's attention, behavior, and parent-related outcomes versus cognitive behavioral therapy (CBT).

Methods: A total of 138 families of children with ADHD aged 8-12 years were recruited from the community with 69 randomized to MYmind and 69 to CBT.

Conjugated Polyelectrolyte Thin Films for Pseudocapacitive Applications.

A subclass of organic semiconductors known as conjugated polyelectrolytes (CPEs) is characterized by a conjugated backbone with ionic pendant groups. The water solubility of CPEs typically hinders applications of thin films in aqueous media. Herein, it is reported that films of an anionic CPE, namely CPE-K, drop cast from water produces single-component solid-state pseudocapacitive electrodes that are insoluble in aqueous electrolyte.

Cost-Effectiveness Analysis of Myopia Progression Interventions in Children.

Importance: Several interventions exist for treating myopia progression in children. While these interventions' efficacy has been studied, their cost-effectiveness remains unknown and has not been compared.

Objective: To determine cost-effective options for controlling myopia progression in children.

Cost-effectiveness of virtual reality and wet laboratory cataract surgery simulation.

Purpose: To evaluate the cost-effectiveness of phacoemulsification simulation training in virtual reality simulator and wet laboratory on operating theater performance.

Methods: Residents were randomized to a combination of virtual reality and wet laboratory phacoemulsification or wet laboratory phacoemulsification. A reference control group consisted of trainees who had wet laboratory training without phacoemulsification.

Dimensional structure of one-year post-COVID-19 neuropsychiatric and somatic sequelae and association with role impairment.

This study examined the latent structure of the broad range of complex neuropsychiatric morbidities occurring 1 year after COVID-19 infection. As part of the CU-COVID19 study, 248 (response rate=39.3%) of 631 adults hospitalized for COVID-19 infection in Hong Kong completed an online survey between March-2021 and January-2022.

Maternal rheumatoid arthritis and risk of autism in the offspring.

Background: Maternal Rheumatoid Arthritis (RA) is suggested to increase the risk of Autism Spectrum Disorder (ASD) in the offspring, mainly through inflammation/autoimmunity, but the association is unclear. A prospective population-based cohort study was implemented to examine the association between maternal RA and offspring ASD.

Methods: We included all children born alive in Sweden from 1995 to 2015, followed up through 2017.

B cell class switch recombination is regulated by DYRK1A through MSH6 phosphorylation.

Protection from viral infections depends on immunoglobulin isotype switching, which endows antibodies with effector functions. Here, we find that the protein kinase DYRK1A is essential for B cell-mediated protection from viral infection and effective vaccination through regulation of class switch recombination (CSR). Dyrk1a-deficient B cells are impaired in CSR activity in vivo and in vitro.