Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer.

Purpose: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This paper quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH.

Methods: We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1,780 individuals with renal cancer, and compared the frequency of 'very rare' variants in each phenotypic cohort against 562,295 population controls.

Knee pain associated with bone-patellar tendon-bone autografts does not limit activity levels, sports participation or quality of life after ACL reconstruction.

Purpose: Bone-patellar tendon-bone (BPTB) and Hamstring (HT) autografts are commonly used for anterior cruciate ligament reconstruction (ACLR). Concerns exist regarding postoperative anterior knee pain (AKP) and kneeling discomfort with BPTB grafts. However, many studies solely report the presence/absence of anterior knee pain, without assessing its clinical significance in terms of functional limitation or impact on quality of life.

We don't talk about sex enough: overcoming barriers to discussing intimacy issues with stoma patients.

Sex and intimacy are generally considered to be vital to an individual's psychological wellbeing. As such, anything that affects a person's ability to engage in sex and intimacy has the potential to significantly impact their mental health. It is well known that stoma-forming surgery can leave ostomates with body-image issues and a profound feeling of lack of control over their body.

Understanding the diagnosis, symptoms and treatment of rare bleeding disorders.

Bleeding disorders are rare congenital conditions where a person's blood does not clot correctly. The most common of these disorders is von Willebrand disease and the most well-known is haemophilia. However, less is known about rare bleeding disorders (RBDs), which collectively comprise a significant proportion of all bleeding disorders.

Steps to manage treatment-refractory migraine in adults.

Introduction: Refractory migraine (RM) is characterized by a lack of response to both migraine-specific and repurposed treatments, significantly impairing quality of life. Risk factors for RM include, among others, overuse of symptomatic medications, nonadherence to treatment and comorbid conditions that limit the use of anti-migraine medications.

Areas Covered: This critical perspective addresses the diagnosis and management of patients with RM.

Neuroinflammatory Consequences of Rhinovirus Infection in Human Epithelial and Neuronal Models.

Introduction: Rhinovirus (RV) is the leading cause of exacerbations of lung disease. A sensory neuronal model, derived from human dental pulp stem cells and differentiated into peripheral neuronal equivalents (PNEs), was used to examine RV's effects on airway sensory nerves. We investigated whether RV can directly infect and alter PNEs or whether it exerts effects indirectly via the release of mediators from infected epithelial cells.

Enhancing academic writing confidence and productivity: The impact of Technological University of Shannon WEWRITE!

Effective scholarly writing is essential for academic success, yet it often presents challenges, including feelings of isolation and imposter syndrome. These challenges can lead to avoidance and procrastination, impeding progress in graduate studies and publications. In response to these common struggles, a virtual writing community called TUS WEWRITE! was piloted for twenty master's and PhD students and research-active faculty and administrative staff at the Technological University of the Shannon (TUS) Midlands Midwest in Ireland.

Surgical Reconstruction Techniques for Irreparable Subscapularis Tears Provide Functional Improvement but Variable Failure Rates: A Systematic Review.

Introduction/objectives: Irreparable subscapularis tears can cause severe functional impairment and present significant clinical challenges. Current treatment options include tendon transfers (TTs), anterior capsular reconstruction, and reverse shoulder arthroplasty. Each approach has distinct biomechanical advantages and limitations, but there remains no consensus regarding the optimal treatment.

The Significance of the Amino Acid at Position 2561 in the C4 Domain of Von Willebrand Factor.

Background: The VWF Phe2561Tyr variant has been previously shown to exhibit gain-of-function like activity and increase the risk of repeated MI in patients below 55 years of age. It was hypothesised that altered stem dynamics enhanced the responsiveness of the molecule to shear stress. In this study we investigated the evolutionary significance of the amino acid at position 2561 and functional impacts of variants at this site.

Multi-voxel pattern analysis of face and word encoding fMRI in people with temporal lobe epilepsy and healthy individuals.

Memory functional MRI (fMRI) has been used to explore cognitive processing in people with refractory temporal lobe epilepsy (TLE) to predict memory decline after anterior temporal lobe resection (ATLR). Traditional studies employed univariate analysis (UVA), focusing on isolated voxel activity in mesial temporal regions. By contrast, multivariate pattern analysis (MVPA), examines distributed activity patterns , offering deeper insight into neural networks supporting cognitive functions.

A serological test based on mutated recombinant Fasciola hepatica cathepsin L protease for the diagnosis of equine fasciolosis.

Fasciola hepatica is a common trematode parasite of livestock in many regions, causing significant economic losses and affecting animal welfare. Horses rarely develop patent liver fluke infection. However, liver damage can affect animal health and welfare.

Influence of dietary intake and eating patterns on reactive hypoglycemic events in patients postesophagectomy: A prospective observational study using continuous glucose monitoring.

Background: Esophagectomy causes anatomical changes that can lead to rapid food transit and reactive hypoglycemia (RH). Patients are advised on eating patterns postesophagectomy to prevent RH, but its true incidence and the impact of dietary recommendations remain under-researched.

Materials And Methods: Individuals >12 months postesophagectomy were recruited from the National Centre for Oesophageal and Gastric Cancer at St James's Hospital in Dublin, Ireland.

Fine tuning wheat development for the winter to spring transition.

The coordination of floral developmental stages with the environment is important for reproductive success and the optimization of crop yields. The timing of different developmental stages contributes to final yield potential with optimal adaptation enabling development to proceed without being impacted by seasonal weather events, including frosts or end of season drought. Here we characterise the role of FLOWERING LOCUS T 3 (FT3) in hexaploid bread wheat (Triticum aestivum) during the early stages of floral development.

Transmetatarsal amputation versus multiple toes amputations for non-ischemic diabetic foot infection management.

Background: The management of diabetic foot infections (DFIs) is a complex multidisciplinary process and often necessitates surgical interventions. Unfortunately, amputations such as single or multiple toes amputations (MTA) or full transmetatarsal amputation (TMA) are often the unavoidable solution. This study aimed to compare the clinical outcomes of TMA versus MTA in managing non-ischemic diabetic foot infections.

Older Subjects Admitted to Hospital With Stroke From Long-Term Care: A National Cohort and Case Control Study.

Objectives: Internationally about 3% of people ≥65 years live in long-term care (LTC) settings. Older people living in nursing homes are more likely to be admitted to hospital. We examined the characteristics and outcomes of stroke patients admitted from LTC nationally and how this changed over the COVID-19 pandemic.

Multifunctional polyamidoxime-co-polyethyleneimine tailored cellulose derived from sustainable biomass for effective removal of acidic dye pollutants from wastewater.

Multifunctional polymers derived from waste biomass are under intense global investigation for wastewater remediation owing to their environmental advantages. Therefore, this study reports the synthesis of a novel polyamidoxime-co-polyethyleneimine multifunctional cellulose, which was used as an adsorbent for the removal of acidic dye pollutants. Morphological, structural, and surface studies were performed using several techniques.

Overview of evidence synthesis types and modes.

Background And Objectives: Evidence syntheses systematically compile and analyze information from multiple sources to support health care decision making. As many different types of questions need to be answered in health care, different evidence synthesis types have emerged. In this article, we introduce the most common types of evidence synthesis.

Managing root caries with silver diamine fluoride, sodium fluoride and direct restorations: A cost-effectiveness analysis.

Objective: To assess the cost-effectiveness of silver diamine fluoride (SDF) relative to sodium fluoride (NaF) and traditional resin-modified glass ionomer cements (RMGIC) restorations for the management of root caries in older adults aged 60 and above.

Methods: A Markov model design was chosen and two models were constructed: 1) Clinic-based model - with access to dental facility that allows for placement of traditional restorations, 2) Community-based model - without access to dental facility due to mobility, lack of executive function, or financial barriers. Modelling was done over a 10-year time horizon with a cycle length of one year.

Remote monitoring of plant drought stress with the apparent heat capacity.

Drought stress has profound impacts on ecosystems and societies, particularly in the context of climate change. Traditional drought indicators, which often rely on integrated water budget anomalies at various time scales, provide valuable insights but often fail to deliver clear, real-time assessments of vegetation stress. This study introduces the Cooling Efficiency Factor Index (CEFI), a novel metric purely derived from geostationary satellite observations, to detect vegetation drought stress by analyzing daytime surface warming anomalies.

Atypical complications and co-morbidities of type 1 diabetes in young adults.

Aims: Our review aimed to determine the prevalence of - and factors associated with - hearing loss, oral and olfactory disease, frozen shoulder, trigger finger, and hair loss in young adults with type 1 diabetes. These conditions were selected based on research team interests, existing literature, and group discussion.

Methods: We conducted a quantitative narrative review using a systematic process to identify cohort and cross-sectional studies involving young adults with type 1 diabetes (mean age 18-30 years).