Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.

Objective: Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in patients in the Middle East.

Methods: This retrospective longitudinal study assessed the outcomes of seven boys with nmDMD who received treatment with ataluren and follow-up at a single center since 2016.

Microplasma Controlled Nanogold Sensor for SERS of Aliphatic and Aromatic Explosives with PCA-KNN Recognition.

Nanogold is an emerging material for enhancing surface-enhanced Raman scattering (SERS), which enables the detection of hazardous analytes at trace levels. This study presents a simple, single-step plasma synthesis method to control the size and yield of Au nanoparticles by using plasma-liquid redox chemistry. The pin-based argon plasma reduces the Au precursor in under 5 min, synthesizing Au spherical particles ranging from ∼20 nm at 0.

Speciation and Aqueous Dissolution of Macronutrients in Fire Ash: Variation across Ecosystems and the Effects on Nutrient Cycling.

This study investigated the speciation and aqueous dissolution of macronutrients in fire ash from diverse ecosystems and speciation of ash and smoke from laboratory burning, exploring the variations and their causes. The speciation of phosphorus (P), calcium (Ca), and potassium (K) in fire ash from five globally distributed ecosystems was characterized by using X-ray absorption spectroscopy and sequential fractionation. Aqueous dissolution of the macronutrients was measured by batch experiments at acidic and alkaline pHs.

Addition of macrolide antibiotics for hospital treatment of community-acquired pneumonia.

Background: Current guidelines recommend combining a macrolide with a β-lactam antibiotic for the empirical treatment of moderate-to-high severity community-acquired pneumonia (CAP); however macrolide use is associated with potential adverse events and antimicrobial resistance.

Methods: We analysed electronic health data from 8,872 adults in Oxfordshire, UK, hospitalised with CAP between 01-January-2016 and 19-March-2024, who received either amoxicillin or co-amoxiclav as initial treatment. We examined the effects of adjunctive macrolides on 30-day all-cause mortality, time to hospital discharge, and changes in Sequential Organ Failure Assessment (SOFA) score, using inverse probability treatment weighting to address confounding by baseline severity.

Clinical and patient-reported outcomes in women offered oncoplastic breast-conserving surgery as an alternative to mastectomy: ANTHEM multicentre prospective cohort study.

Background: Oncoplastic breast-conserving surgery may be a better option than mastectomy, but high-quality comparative evidence is lacking. The aim of the ANTHEM study (ISRCTN18238549) was to explore clinical and patient-reported outcomes in a multicentre cohort of women offered oncoplastic breast-conserving surgery as an alternative to mastectomy with or without immediate breast reconstruction.

Methods: Women with invasive/pre-invasive breast cancer who were offered oncoplastic breast-conserving surgery with volume replacement or displacement techniques to avoid mastectomy were recruited prospectively.

Engagement With Professional Stakeholders in Healthcare Research-The Case of the Dementia PersonAlised Care Team (D-PACT) Project in the United Kingdom.

Introduction: In this viewpoint we highlight a gap in the literature relating to the involvement of professional stakeholders in healthcare evaluation research.

Method: Using the Dementia-PersonAlised Care Team (D-PACT) project as an example, we illustrate how professional stakeholder work can serve various functions, from understanding commissioning and policy context to contributing to detail of intervention components.

Outcome: We argue that identifying these project-specific functions can help researchers to effectively plan when, how and for whom they will engage in professional stakeholder work across the course of an evaluation.

An Image Processing Tool for Automated Quantification of Bacterial Burdens in Zebrafish Larvae.

Zebrafish larvae are used to model the pathogenesis of multiple bacteria. This transparent model offers the unique advantage of allowing quantification of fluorescent bacterial burdens (fluorescent pixel counts [FPC]) by facile microscopical methods, replacing enumeration of bacteria using time-intensive plating of lysates on bacteriological media. Accurate FPC measurements require laborious manual image processing to mark the outside borders of the animals so as to delineate the bacteria inside the animals from those in the culture medium that they are in.

Association of patient- and hospital-level predictors with patterns of initial treatment in patients with Rheumatoid Arthritis: findings from a national cohort study.

Objectives: To update the first-line conventional synthetic disease-modifying antirheumatic drugs (csDMARDs) prescribing pattern, describe change and variation across demographical and geographical factors in the Rheumatoid arthritis (RA) population, and identify individual and hospital factors associated with it.

Methods: This retrospective cohort study included newly diagnosed RA adult patients from 1 May 2018-1 April 2023 in the UK. We used adjusted multinomial logistic regression with random effect to explore associations with different first-line csDMRAD prescription and to account for hospital-level clustering.

ZYG-12/Hook's dual role as a dynein adaptor for early endosomes and nuclei is regulated by alternative splicing of its cargo binding domain.

The microtubule motor cytoplasmic dynein-1 transports and positions various organelles, but the molecular basis of this functional diversity is not fully understood. Cargo adaptors of the Hook protein family recruit dynein to early endosomes (EE) in fungi and human cells by forming the FTS-Hook-FHIP (FHF) complex. By contrast, the Hook homolog ZYG-12 recruits dynein to the nuclear envelope (NE) in the meiotic gonad and mitotic early embryo by forming a Linker of Nucleoskeleton and Cytoskeleton (LINC) complex.

Awareness and use of tools to identify potentially inappropriate prescribing among physicians and pharmacists in Saudi Arabia: a nationwide cross-sectional study.

Background: Potentially inappropriate prescribing (PIP) contributes significantly to treatment burden, specifically in older people. Detecting PIP and improving prescribing practices are therefore crucial for ensuring patient safety and positive outcomes.

Aim: This study aimed to assess physicians' and pharmacists' awareness and use of tools to identify PIP, as well as their confidence in recommending medication for older people.

Embedded Ethics in Practice: A Toolbox for Integrating the Analysis of Ethical and Social Issues into Healthcare AI Research.

Integrating artificial intelligence (AI) into critical domains such as healthcare holds immense promise. Nevertheless, significant challenges must be addressed to avoid harm, promote the well-being of individuals and societies, and ensure ethically sound and socially just technology development. Innovative approaches like Embedded Ethics, which refers to integrating ethics and social science into technology development based on interdisciplinary collaboration, are emerging to address issues of bias, transparency, misrepresentation, and more.

Comparative Efficacy of Continuous Positive Airway Pressure and Antihypertensive Medications in Obstructive Sleep Apnea-Related Hypertension: A Narrative Review.

Introduction: Obstructive sleep apnea (OSA) presents a significant global health concern, affecting a substantial portion of the population, particularly among young and middle-aged adults.

Aim: This review aims to assess the efficacy of continuous positive airway pressure (CPAP) compared to antihypertensive medications in managing OSA-related hypertension.

Methods: A comprehensive literature search was conducted across multiple databases, yielding studies published from 2000 to March 2024 that investigated CPAP, antihypertensives, or their combination therapy in OSA patients.

MRI in the evaluation of plantar plate disease: diagnostic value of the "stress test".

Introduction: The plantar plate, also called the plantar ligament, is a fibrocartilaginous structure found in the metatarsophalangeal (MTP) and interphalangeal (IP) joints. Our study aimed to evaluate the role of magnetic resonance imaging (MRI) performed with the patient in the standard position or with joint hyperextension (the "stress test", ST) in the study of plantar plate (PP) disease that involves metatarsophalangeal joints.

Materials And Methods: All patients underwent forefoot MRI (Atroscan C, Esaote, Genoa, Italy), operating at 0.

A bipartite medial cuneiform bone: a rare variant with symptomatic presentation and the classic "E-sign".

Background: Bipartite medial cuneiform bone (BMC) is located at the Lisfranc joint of the midfoot, and it represents a rare variant involving two separate ossification centers in the medial cuneiform bone. Although BMC is typically asymptomatic, it can become clinically relevant under conditions of trauma or chronic stress, affecting foot stability.

Case Report: The current imaging report describes a 48-year-old female presenting with chronic dorsal midfoot pain, worsened by extended standing and ambulation.

The association between animal protein, plant protein, and their substitution with bladder cancer risk: a pooled analysis of 10 cohort studies.

Purpose: Although total dietary protein intake has been associated with bladder cancer (BC) risk, the effect of the origin (plant or animal) and the substitutions remain to be understood. This study aimed to investigate the effect of total dietary protein, animal-based protein, plant-based protein, and their substitutions with each other on the risk of BC using a pooled analysis of 10 cohort studies.

Methods: The study was conducted within the "BLadder cancer Epidemiology and Nutritional Determinants" (BLEND) study, including 10 prospective cohort studies from several European countries, the United Kingdom, and the United States.

Visualizing Patient Pathways and Identifying Data Repositories in a UK Neurosciences Center: Exploratory Study.

Background: Health and clinical activity data are a vital resource for research, improving patient care and service efficiency. Health care data are inherently complex, and their acquisition, storage, retrieval, and subsequent analysis require a thorough understanding of the clinical pathways underpinning such data. Better use of health care data could lead to improvements in patient care and service delivery.

Harnessing global HLA data for enhanced patient matching in iPSC haplobanks.

Background: Several countries have either developed or are developing national induced pluripotent stem cell (iPSC) banks of cell lines derived from donors with HLA homozygous genotypes (two identical haplotypes) prevalent in their local populations to provide immune matched tissues and cells to support regenerative medicine therapies. This 'haplobank' approach relies on knowledge of the HLA genotypes of the population to identify the most beneficial haplotypes for patient coverage, and ultimately identify donors or cord blood units carrying two copies of the target haplotype.

Aims: A potentially more efficient alternative to a national bank approach is to assess the haplotypes required to provide global patient coverage and to produce a single, global haplobank.

H and P MR Spectroscopy to Assess Muscle Mitochondrial Dysfunction in Long COVID.

Background Emerging evidence suggests mitochondrial dysfunction may play a role in the fatigue experienced by individuals with post-COVID-19 condition (PCC), commonly called long COVID, which can be assessed using MR spectroscopy. Purpose To compare mitochondrial function between participants with fatigue-predominant PCC and healthy control participants using MR spectroscopy, and to investigate the relationship between MR spectroscopic parameters and fatigue using the 11-item Chalder fatigue questionnaire. Materials and Methods This prospective, observational, single-center study (June 2021 to January 2024) included participants with PCC who reported moderate to severe fatigue, with normal blood test and echocardiographic results, alongside control participants without fatigue symptoms.

Neuropathological features of cerebrovascular diseases.

Optimal blood flow through a patent cerebral circulation is critical for supply of oxygen and nutrients for brain function. The integrity of vascular elements within arterial vessels of any calibre can be compromised by various disease processes. Pathological changes in the walls of veins and the venous system may also alter the dynamics of cerebral perfusion.

Ultrasensitive Protein Aggregate Quantification Assays for Neurodegenerative Diseases on the Simoa Platform.

Nanoscale aggregates play a key role in the pathogenesis of neurodegenerative disorders such as Alzheimer's and Parkinson's disease. However, quantifying these aggregates in complex biological samples, such as biofluids and postmortem brain tissue, has been challenging due to their low concentration and small size, necessitating the development of methods with high sensitivity and specificity. Here, we have developed ultrasensitive assays utilizing the Quanterix Simoa platform to detect α-synuclein, β-amyloid and tau aggregates, including those with common posttranslational modifications such as truncation of α-synuclein and AT8 phosphorylation of tau aggregates.