Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.

Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin.

Experiences of Disclosure, Resilience and Viral Suppression among People Living with HIV in Ghana.

Support for people living with HIV (PLHIV) as they disclose their HIV status can impact continuity of HIV treatment and adherence to antiretrovirals. In the presence of multi-level adversities, resilience among PLHIV can promote health-seeking behaviors and better health outcomes. However, few studies have examined how disclosure experience and resilience work together to impact HIV treatment outcomes among PLHIV.

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.

Symmetry in the developmental stages of permanent human teeth: a comparative study between maxilla and mandible.

Objective: The aim of this study was to assess symmetry of developmental stage of permanent teeth between the left and right side of the jaw, as well as between the maxilla and the mandible.

Methods: A sample of 150 panoramic radiographs of individuals aged 6-20 years (69 males, 81 females) were selected from an open-access radiographic collection (Maxwell Museum of Anthropology's orthodontic collection, Albuquerque, USA). All developing immature permanent teeth (n = 489) were scored by the first author using Moorrees and Demirjian tooth stages.

European Survey on Adults with Type 1 Diabetes and their Caregivers: Insights into Personal Experience and Needs for Improving Diabetes Care.

Introduction: Type 1 diabetes (T1D) requires constant self-management and substantially impacts daily life. We surveyed the experiences/burdens of people with T1D (PWD) and their caregivers.

Methods: An online survey of PWD/caregivers (aged ≥ 18 years) living in five European countries was conducted from July to August 2021.

A comparative study of ionic pesticide sorption and degradation in contrasting Brazilian soils and the development of a novel 3-Phase Assay to assess sorption reversibility.

Brazilian soils have distinctive characteristics to European and North American soils which are typically used to investigate pesticide fate. This study aimed to compare soil-water partition coefficient (K), reversibility of adsorption and degradation half-life (DT) of 5 pesticides covering a wide range of physico-chemical properties in contrasting Brazilian soils (Argissolo, Gleissolo, Latossolo and Neossolo) and a temperate (UK) alfisol soil, and to study their relationship with soil OM, clay and expandable clay content, CEC and pH. In addition, we used a novel laboratory test to evaluate sorption reversibility, the 3-Phase Assay (3PA).

Severity of skin disease strongly correlates with quality of life in people with psoriatic arthritis: a systematic review.

This systematic review aims to summarise the association between skin disease and quality of life (QoL) in people with psoriatic arthritis (PsA) and identify areas for future research and management. This review was registered on PROSPERO (CRD42024500994). Databases were searched for articles in English published until 7th January 2025.

European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.

Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.

Alpelisib-Induced Hyperglycemia in Breast Cancer Patients.

Alpelisib is a phosphatidylinositol 3-kinase inhibitor approved by the US Food and Drug Administration for the treatment of hormone receptor-positive metastatic breast cancer with (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α) mutation. In recent years a number of adverse effects have been observed to be associated with this therapy, the most notable of which is hyperglycemia. A literature search was conducted to include case studies, case series, systematic reviews, and meta-analyses within the last 10 years that evaluated patients with mutated hormone receptor-positive, human epidermal growth factor receptor 2 negative metastatic breast cancer.

Small Remnants versus Large Triglyceride-Rich Lipoproteins in Risk of Atherosclerotic Cardiovascular Disease.

Background: Small remnants may penetrate the arterial intima more efficiently compared to large triglyceride-rich lipoproteins (TGRL). We tested the hypothesis that the importance of remnant cholesterol for the risk of atherosclerotic cardiovascular disease (ASCVD) may depend on the size of the remnants and TGRL carrying cholesterol.

Methods: The cholesterol content of small remnants and large TGRL were measured in 25 572 individuals from the Copenhagen General Population Study (2003-2015) and in 222 721 individuals from the UK Biobank (2006-2010) using nuclear magnetic resonance spectroscopy.

Increased default mode network activation in depression and social anxiety during upward social comparison.

Social comparisons are a core feature of human life. Theories posit that social comparisons play a critical role in depression and social anxiety triggering negative evaluations about the self, as well as negative emotions. We investigated the neural basis of social comparisons in participants with depression and/or social anxiety (MD-SA, n=56) and healthy controls (n=47) using functional magnetic resonance imaging (fMRI).

A Political Economy Analysis of Health Policymaking in Nigeria: The Genesis of the 2014 National Health Act.

This article explores the ideologies, interests, and institutions affecting health policymaking in Nigeria, and the role of the private sector therein. It covers the period from the late-1950s, the years leading up to independence, to 2014, when the country enacted its first-ever law to govern its healthcare system. The National Health Act (NHAct) was adopted after a decade of preparation and civil society-driven advocacy, making the objective of Universal Health Coverage (UHC) explicit.

A case series of ibogaine toxicity reported to the United Kingdom National Poisons Information Service (NPIS) over a 10-year period.

Introduction: Ibogaine is a psychoactive alkaloid derived from the root bark of the West African shrub . It is not licensed in the United Kingdom but is used by individuals to alleviate drug or alcohol use.

Methods: A retrospective analysis of telephone enquiries involving ibogaine between 1 January 2012 and 31 December 2022 to the United Kingdom National Poisons Information Service was performed.

Venous thromboembolism in bullous pemphigoid: current evidence and update on systematic review.

Various studies have shown that individuals with bullous pemphigoid (BP) are more likely to develop venous thromboembolism (VTE). However, it is important to acknowledge that these studies primarily focused on individuals in Western nations, which restricts their generalization to a wider demographic. The present systematic review aims to assess the cumulative risk of VTE in individuals with BP compared to healthy individuals.

Carbon Dioxide Sensing Based on Off-Axis Integrated Cavity Absorption Spectroscopy Combined with the Informer and Multilayer Perceptron Models.

Off-axis integrated cavity output spectroscopy (OA-ICOS) allows the laser to be reflected multiple times inside the cavity, increasing the effective absorption path length and thus improving sensitivity. However, OA-ICOS systems are affected by various types of noise, and traditional filtering methods offer low processing efficiency and perform limited feature extraction. Deep learning models enable us to extract important features from large-scale, complex spectral data and analyze them efficiently and accurately.

The need for health equitable climate adaptation policies in Northern Europe.

Socioeconomic conditions remain an important factor in determining health outcomes in Northern Europe. In this commentary, we argue for evidence-based temperature-related climate adaptation policies in Northern Europe that account for disparities in socioeconomic conditions and aim at universal health coverage. We highlight the role of spatial and occupational disparities in urban areas that can be important factors in increased physical and mental health impacts related to heat and cold.

A comparison of maximal isometric force in the first pull, transition and second pull of the clean and their contribution to predict performance in national and international level weightlifters.

This study aimed to examine differences in isometric peak force (PF) at the start of the first pull, transition, and second pull phases of the clean, and determine their contribution in explaining the variance in snatch and clean & jerk (C&J) performance. Thirty-one national and international level male and female weightlifters participated. Isometric start position pull (ISPP), isometric transition position pull (ITPP), and isometric mid-thigh pull (IMTP) PF, along with competition performance, were analysed both in absolute and allometrically scaled terms.

Benefits of the "worst-case scenario": a multi-level examination of the effects of confronting the feared outcome during imagery-based exposure.

Exposure therapy is an efficacious treatment for anxiety-related disorders. Yet, fear often returns after treatment. Occasional reinforcement, in which the feared stimulus is intermittently presented during extinction, increases safety learning and slows fear renewal in conditioning paradigms and analogue samples, but no studies to date have examined this strategy in clinical samples.

Cost-Effective Quality of Life Improvement While Reducing Health Care Professional Burnout With an AI-Driven Intervention for Personalized Medicine.

Background And Aims: Burnout affects >50% of physicians and nurses. Spotlight-AQ is a personalized digital health platform designed to improve routine diabetes visits. We assessed cost-effectiveness, visit length, and association with health care professional (HCP) burnout.

Relationships between knee and ankle strength and horizontal deceleration performance at different sprint distances in multi-directional sports athletes.

The aim of this study was to investigate the relationships between knee and ankle strength and horizontal deceleration performance following different sprint distances. Fifty-seven ( = 41male,  = 16 female) youth team-sports athletes completed: a) 5-m and 10-m horizontal deceleration ability (HDA) tests; b) concentric (60°/s, 180°/s) and eccentric (30°/s) relative peak torque (PT) measurements of the knee extensor (KE) and flexor (KF) muscles and the ankle plantarflexion (APF) and dorsiflexion (ADF) muscles in an isokinetic dynamometer. Pearson's correlation coefficients revealed that concentric at 60°/s and eccentric at 30°/s KE were mostly related to deceleration performance both in HDA ( = -0.

Single-Site Local-Density Potentials for the Mesoscopic Representation of Water Based on the SAFT-VR Mie Equation of State.

In this article, we present three mesoscopic models for water. All three models make use of local density-dependent interaction potentials, as employed within the Pagonabarraga-Frenkel framework [Pagonabarraga, I.; Frenkel, D.

Acute and chronic effects of an intervention aiming to reduce prolonged sitting on glucose regulation in individuals with dysglycaemia.

Acute studies have consistently demonstrated small-to-medium glycaemic responses to breaking prolonged sitting, yet it is not known whether acute effects are maintained following a period of intervention or whether behavioural interventions lead to sustained benefits. A single arm, 4-week intervention with pre and post "two-arm" randomised cross-over conditions, study was conducted to investigate whether reducing prolonged sitting in free-living affects acute and chronic glucose and insulin responses. Adults aged 40-75 years living with overweight or obesity with an elevated HbA1c (5.

Chemospecific Heterostructure and Heteromaterial Assembly of Metal-Organic Framework Nanoparticles.

Nanoparticles of highly porous metal-organic frameworks (MOFs) are some of the most exciting nanomaterials under development, with potential applications that range from biomedicine and catalysis to adsorption technologies. However, our synthetic methodologies to functionalize and manipulate MOF nanoparticles (NPs) are less well developed than they might be. Here we create MOF NPs derivatized with hydrazone units on their exterior, enabling chemospecific reversible dynamic covalent modification of structures on the external surface.