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.

PPA2-associated cardiac arrest survivor.

Biallelic pathogenic variants in the inorganic pyrophosphatase 2 (PPA2) gene are a rare but established cause of sudden infant death, which may be precipitated by a pyrexial or viral illness. It has also been associated with sudden death secondary to alcohol ingestion in young adults. We describe the case of a thirteen-month-old female who presented following out-of- hospital cardiac arrest and was subsequently diagnosed with compound, heterozygous pathogenic variants of PPA2.

Forensic mental health in Kuwait: filling the gaps.

The case of (1843) laid out the insanity defence test for the British legal system. Later, many countries basing their criminal legislation on the British common law system, including the Criminal Act of Kuwait, adopted the test. The Act forms the basis for forensic psychiatric assessments.

Comparative main effects, mediators, and moderators of cognitive behavioral therapy, acceptance and commitment therapy, and emotional awareness and expression therapy for chronic spinal pain: Randomized controlled trial rationale and protocol.

Background: Chronic spinal (back/neck) pain is common and costly. Psychosocial treatments are available but have modest effects. Knowledge of treatment mechanisms (mediators and moderators) can be used to enhance efficacy.

A systematic review of the cost-effectiveness of anti-VEGF drugs for the treatment of diabetic retinopathy.

Background: Non-proliferative and proliferative diabetic retinopathy are common complications of diabetes and a major cause of sight loss. Anti-vascular endothelial growth factor drugs represent a treatment option for people with diabetic retinopathy and are routinely used to treat various other eye conditions. However, anti-vascular endothelial growth factor drugs are expensive relative to current care options, and it is unclear whether this additional cost is justified when the immediate risk of vision loss is lower compared to patients with more aggressive ophthalmological conditions.

The effects of age, fitness, and health on the passive stiffness of the intact low back and its impact on seated work in a healthy, working, female population.

Age is associated with increased tissue stiffness and a higher risk of low back pain, particularly in older, sedentary workers who spend long periods sitting. This study explored how trunk stiffness changes with age and its relationship with posture during prolonged sitting in a sample of 37 women aged 20-65 years. Age was assessed as both Chronological Age and Fitness Age, with trunk stiffness measured using a passive trunk flexion apparatus.

Chemical- and photo-activation of protein-protein thiol-ene coupling for protein profiling.

The thiol-ene reaction between an alkene and a thiol can be exploited for selective labelling of cysteine residues in protein profiling applications. Here, we explore thiol-ene activation in systems from chemical models to complex cellular milieus, using UV, visible wavelength and redox initiators. Initial studies in chemical models required an oxygen-free environment for efficient coupling and showed very poor activation when using a redox initiator.

Change in subjective well-being and the associated costs of a woman-targeted presbyopia correction programme among older craftswomen in Zanzibar: a cost-outcome and scenario analysis.

Background: A pilot eyecare programme aimed to address the urgent eye health needs of older Zanzibari craftswomen. We investigated the impact of correcting presbyopia on their subjective well-being (SWB) 6 months post-correction and assessed the cost-effectiveness of a women-targeted presbyopia correction programme.

Methods: This study involved Zanzibari craftswomen aged 40 and older with presenting and corrected distance visual acuity better than 6/12 in both eyes and were presbyopic.

Low-coverage whole genome sequencing of low-grade dysplasia strongly predicts advanced neoplasia risk in ulcerative colitis.

Background: The risk of developing advanced neoplasia (AN; colorectal cancer and/or high-grade dysplasia) in ulcerative colitis (UC) patients with a low-grade dysplasia (LGD) lesion is variable and difficult to predict. This is a major challenge for effective clinical management.

Objective: We aimed to provide accurate AN risk stratification in UC patients with LGD.

A Comparison of International Modelling Methods to Evaluate Health Economics of Colorectal Cancer Screening: A Systematic Review.

Objectives: Cost-effectiveness analysis (CEA) is an accepted approach to evaluate cancer screening programmes. CEA estimates partially depend on modelling methods and assumptions used. Understanding common practice when modelling cancer relies on complete, accessible descriptions of prior work.

Agreement between Color, Fluorescein Angiography, and SD-OCT in the Detection of Macular Fibrosis in Neovascular AMD.

Purpose: Color imaging is the accepted reference standard for detection of macular fibrosis in neovascular age-macular degeneration. Other imaging modalities of fluorescein angiography (FA) and spectral domain optical coherence tomography (SD-OCT) are also used but no formal agreement studies exist. We evaluated the agreement between fibrosis on colour, FA and SD-OCT-detected hyperreflective material (HRM) and their clinical relevance.

Developing a Profile of Canadian Children With Cerebral Palsy Who Require Augmentative and Alternative Communication.

Purpose: Cerebral palsy (CP) is the most prevalent motor disability affecting children. Many children with CP have significant speech difficulties and require augmentative and alternative communication (AAC) to participate in communication. Despite demonstrable benefits, the use of AAC systems among children with CP remains constrained, although research in Canada is lacking.

N-Heterocyclic Carbene Deposition on a Copper Powder Surface Using Mechanochemistry.

Metal powders are crucial precursors for manufacturing surfaces through thermal spraying, cold spraying, and 3D printing methods. However, surface oxidation of these precursors poses a challenge to the coherence of the metallic materials during manufacturing processes. Herein, we introduce a method for surface modification of copper powder with N-heterocyclic carbenes (NHCs) using mechanochemistry to mitigate surface oxidation.

Benzodiazepine-Free Cardiac Anesthesia for Reduction of Postoperative Delirium: A Cluster Randomized Crossover Trial.

Importance: Delirium is common after cardiac surgery and associated with adverse outcomes. Intraoperative benzodiazepines may increase postoperative delirium but restricting intraoperative benzodiazepines has not yet been evaluated in a randomized trial.

Objective: To determine whether an institutional policy of restricted intraoperative benzodiazepine administration reduced the incidence of postoperative delirium.

Perturbation of peptidoglycan recycling by anti-folates and design of a dual-action inhibitor.

Unlabelled: Peptidoglycan (PG) is an important bacterial macromolecule that confers cell shape and structural integrity, and is a key antibiotic target. Its synthesis and turnover are carefully coordinated with other cellular processes and pathways. Despite established connections between the biosynthesis of PG and the outer membrane, or PG and DNA replication, links between PG and folate metabolism remain comparatively unexplored.

Endocrine alterations in patients with pachydermoperiostosis.

Context: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) usually due to biallelic loss-of-function variants in HPGD and SLCO2A1, has some features overlapping with acromegaly and often referred to endocrinologists. A detailed endocrine assessment is not available for these patients.

Objective: To assess the genetic and endocrine characteristics of PHO patients referred to endocrine centres with a possible diagnosis of acromegaly.

Evidence update on the cancer risk of vaping e-cigarettes: A systematic review.

Introduction: There is substantial interest in the association of vaping e-cigarettes with the risk of cancer. We analyzed this risk in different populations by updating the Kings College London (KCL) review to include the period between July 2021 and December 2023.

Methods: We searched six databases and included peer-reviewed human, animal, and cell/ original studies examining the association between e-cigarettes and cancer risk, but we excluded qualitative studies.

Exploring Skin Tone Diversity in a Plastic Surgery Resident Education Curriculum.

Gaps remain in surgical education regarding the representation of skin tone diversity. To improve equity and prevent misdiagnosis leading to worsened health outcomes, efforts must be made to ensure educational photographs are representative of the diverse patient populations plastic surgery residents will be treated in their future practices. Four study investigators examined 96 h of recorded lecture seminars from a Canadian plastic surgery resident education curriculum from May 2020 to December 2021.

Fat Grafting Versus Implants: Who's Happier? A Systematic Review and Meta-analysis.

Breast implants were first introduced in the 1960s and have long been used for augmentation and reconstructive breast surgery. More recently, fat grafting for breast augmentation has gained popularity due to the 'natural' outcome and lack of implant-related complications. The aim of this study was to conduct a systematic review and meta-analysis comparing patient-related outcome measures between fat grafting and implant-based primary augmentation using the validated BREAST-Q questionnaire.

Kin discrimination causes plastic responses in floral and clonal allocation.

The composition of a plant's neighbourhood shapes its competitive interactions. Neighbours may be related individuals due to limited seed dispersal or clonal growth, so that the ability to recognize and respond to the presence of kin is beneficial. Here, we ask whether plants plastically adjust their floral and clonal allocation in response to their neighbour's identity.

Paton Prize Lecture Winner 2024: Gordon Holmes and the Irish spirit of adventure: Lessons for modern thinkers.

This lecture is given in honour of Sir William Paton (1917-1993), physiologist, pharmacologist and Fellow of the Royal Society. His passion for the history of medicine led to generous donations to the Society, who consequently founded the Paton Prize Fund for historical research. After his death, this eponymous Prize Lecture was debuted in 1994.

The architecture of the human default mode network explored through cytoarchitecture, wiring and signal flow.

The default mode network (DMN) is implicated in many aspects of complex thought and behavior. Here, we leverage postmortem histology and in vivo neuroimaging to characterize the anatomy of the DMN to better understand its role in information processing and cortical communication. Our results show that the DMN is cytoarchitecturally heterogenous, containing cytoarchitectural types that are variably specialized for unimodal, heteromodal and memory-related processing.

'I wish I had been better prepared': a mixed-methods study of psychological reactions, perceptions and opinions of cardiovascular preparticipation screening among young competitive athletes.

Objective: To evaluate the psychological reactions, perceptions and opinions of cardiovascular preparticipation screening (PPS) among young competitive athletes.

Methods: This convergent parallel mixed-methods study recruited 222 athletes (mean age: 18.7 years) who underwent PPS at a Canadian university.

"It's Allowing Space for Vulnerability": Exploring Athletes' Experiences With Trust in Interdependent Sport.

Despite trust being associated with a range of favorable outcomes across high-performing team contexts (e.g., enhanced satisfaction, performance), efforts to investigate the meaning of trust in sport remain limited.