Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria.

Objective: We describe neurologic phenotype, clinical associations, and outcomes in autoimmune brainstem encephalitis.

Methods: Medical records of neural-IgG positive autoimmune brainstem encephalitis patients diagnosed at Mayo Clinic (January 1, 2006-December 31, 2022) were reviewed.

Results: Ninety-eight patients (57 male) were included.

Eradication of bovine tuberculosis in Ireland: is it a case of now or never?

There has been a sharp disimprovement in the bovine tuberculosis (bTB) situation in Ireland in recent years. This commentary argues for critical programme change in three overarching themes relevant to the Irish bTB eradication programme, if eradication is to be successful: (1) Limiting infection in cattle. Residual (hidden) infection is an important constraint to eradication, due to the use of imperfect diagnostic tests.

Experience in sports and music influences motor imagery: Insights from implicit and explicit measures.

Background: Motor imagery (MI) can be an effective strategy for learning and enhancing movement or as an alternative training modality when physical practice is compromised. Individual differences in MI ability are widely documented but the role of experience in different activities in influencing MI is not well understood. The present study examined how experience in activities associated with the use of MI influences implicit and explicit MI.

Embedding the patient voice into research on spontaneous preterm birth-themes from a Preterm Birth Advisory Council.

Background: Spontaneous preterm birth (sPTB) has a deep immediate impact on patients but also alters their care and experience in subsequent pregnancies. There is an absence of the pregnant patient's voice in the research surrounding pregnancy at risk of sPTB.

Materials/methods: The Preterm Birth Advisory Council was established at the National Maternity Hospital (NMH) in January 2023, to introduce and embed the patient voice in research into sPTB prevention.

Food-based indices for the assessment of nutritive value and environmental impact of meals and diets: A systematic review protocol.

Current food production and consumption practices are impacting both human and planetary health. Though these challenges are multifaceted, shifting to healthy dietary choices from sustainable food systems is one solution. Food-based labelling is a common public-health strategy aimed at influencing consumption practices, primarily displaying front-of-pack nutrition labelling to encourage healthier choices.

European recommendations from health care professionals and people living with obesity on safe practice for bariatric and metabolic surgery medical tourism: a modified delphi consensus statement from EASO, IFSO-EC and ECPO.

Background: Bariatric and metabolic surgery tourism (BMT) is becoming an increasingly popular route to treatment for patients living with obesity. Recent reports have highlighted that some patients travelling abroad for bariatric surgery have received inadequate care, fraudulent care, and, tragically, some cases have resulted in death. This study aimed to define consensus in Europe regarding safe practices concerning BMT.

Continuous flow synthesis of alkynes from isoxazolones.

The development of a continuous flow approach for the generation of alkynes from isoxazolones under diazotisation conditions is reported. The underlying transformation has been known for several decades; however, in batch mode, it is plagued by variable yields, excessive use of sodium nitrite and limited scalability due to its exothermic nature and the release of copious amounts of toxic nitroxide gases. The presented flow approach overcomes these limitations and delivers various alkyne products in residence times of less than 1 minute with productivities of 2 g h.

Diagnostic interobserver variability of atypia assessment in columnar cell lesions among a group of expert breast pathologists in the United Kingdom and the Republic of Ireland, on behalf of the UK national coordinating committee for breast pathology.

Aims: Atypical ductal hyperplasia and flat epithelial atypia (FEA) have defined diagnostic criteria, yet there is variation in the interpretation of these criteria, particularly when the atypia is present in a background of columnar cell lesions (CCLs). This study focuses upon cases which are especially challenging or difficult to classify reproducibly according to existing criteria.

Methods And Results: Thirteen breast pathology experts were asked to classify 10 challenging cases with CLLs as atypical or non-atypical.

An investigation of diet quality across racial groups in the United Kingdom and United States considering nutritional adequacy, disease risk, and environmental sustainability: a secondary analysis of NDNS and NHANES datasets.

Diet indices are quantitative assessments of the quality of population intake. Understanding diet quality is crucial to support health and well-being; however, knowledge of diet quality across racial groups is limited. To examine diet quality of acial groups 'White', 'Black', 'Asian', and 'Other' in the United Kingdom (U.

Exploring the cascade of mental healthcare among people with HIV experiencing depressive symptoms in the UK and Ireland: The POPPY study.

Introduction: Depressive symptoms are highly prevalent among people with HIV, which can negatively impact HIV-related outcomes. We explore the cascade of mental healthcare for people with HIV experiencing depressive symptoms.

Methods: People with HIV who were part of the Pharmacokinetic and clinical Observations in PeoPle over fiftY (POPPY) study (2013-2016) were included.

Efficacy and safety of tofacitinib in an open-label, long-term extension study in patients with psoriatic arthritis who received adalimumab or tofacitinib in a Phase 3 randomized controlled study: a post hoc analysis.

Background: Data on treatment switching directly from tumor necrosis factor inhibitors to tofacitinib in psoriatic arthritis (PsA) are limited. This post hoc analysis assessed efficacy and safety outcomes in patients with PsA who directly switched to tofacitinib in a long-term extension (LTE) study after receiving adalimumab (ADA) in a Phase 3 study, compared with those who continued to receive tofacitinib.

Methods: Patients with active PsA received tofacitinib 5 mg twice daily (BID) or ADA 40 mg once every 2 weeks in a 12-month, randomized, double-blind study (OPAL Broaden) and then continued or switched to tofacitinib 5 mg BID and maintained this dose in an open-label LTE study (OPAL Balance).

SARS-CoV-2 introductions to the island of Ireland: a phylogenetic and geospatiotemporal study of infection dynamics.

Background: Ireland's COVID-19 response combined extensive SARS-CoV-2 testing to estimate incidence, with whole genome sequencing (WGS) for genome surveillance. As an island with two political jurisdictions-Northern Ireland (NI) and Republic of Ireland (RoI)-and access to detailed passenger travel data, Ireland provides a unique setting to study virus introductions and evaluate public health measures. Using a substantial Irish genomic dataset alongside global data from GISAID, this study aimed to trace the introduction and spread of SARS-CoV-2 across the island.

Shear stress-induced restoration of pulmonary microvascular endothelial barrier function following ischaemia reperfusion injury requires VEGFR2 signalling.

Normal shear stress produced by blood flow is sensed by the vascular endothelium and required for maintenance of the homeostatic functions of the endothelium in systemic conduit and resistance vessels. Many critical illnesses are characterised by periods of abnormally reduced or absent shear stress in the lung (e.g.

Preterm-birth-prevention with Lactobacillus Crispatus oral probiotics: Protocol for a double blinded randomised placebo-controlled trial (the PrePOP study).

Introduction: Effective spontaneous preterm birth (sPTB) prevention is an urgent unmet clinical need. Vaginal depletion of Lactobacillus crispatus is linked to sPTB. This trial will investigate impact of an oral Lactobacillus spp.

Thiol functionalized pH-responsive mucoadhesive hydrogel: Potential approach for site-specific delivery of 5 fluorouracil in colon cancer.

The present study aims to develop a novel thiolated carboxymethyl cellulose (CMC-SH) by the addition of aldehyde groups via oxidation followed by reductive amination and then develop CMC-SH based pH-responsive hydrogel by free radical polymerization approach while assessing its mucoadhesive and permeation-enhancing capabilities. By in-vitro characterization, the intended compound's chemical composition, thermal stability, and amorphous nature were analyzed for CMC-SH polymer. Ellman's assay was utilized to estimate the thiol content and permeation analysis was performed to evaluate its enhanced permeability characteristics.

Selective or ROUTINE face mask application for breathing support of preterm infants at Birth: A randomised trial.

Background: Most preterm infants breathe spontaneously at birth. Despite this, the majority have a face mask immediately applied for breathing support. Face mask application may inhibit spontaneous breathing in newborn infants.

Heads up-Four Giraffa species have distinct cranial morphology.

Giraffe (Giraffa spp.) are among the most unique extant mammals in terms of anatomy, phylogeny, and ecology. However, aspects of their evolution, ontogeny, and taxonomy are unresolved, retaining lingering questions that are pivotal for their conservation.

European S2k guidelines for hidradenitis suppurativa/acne inversa part 2: Treatment.

Introduction: This second part of the S2k guidelines is an update of the 2015 S1 European guidelines.

Objective: These guidelines aim to provide an accepted decision aid for the selection, implementation and assessment of appropriate and sufficient therapy for patients with hidradenitis suppurativa/acne inversa (HS).

Methods: The chapters have been selected after a Delphi procedure among the experts/authors.

A prospective cohort study to investigate the transmission and burden of in Sri Lanka.

Methicillin-resistant (MRSA) is a common cause of infection in both community and healthcare settings, and the household may be a central component linking these two environments. Strategies to prevent transmission and thereby reduce the risk of infection must be informed by a detailed understanding of local epidemiology. These data are typically lacking in many low- and middle-income countries.

Quality care for children and young people with complex and integrated care needs: A discussion on nursing-sensitive indicators.

This paper highlights the need for nursing-sensitive indicators tailored to children and young people with complex and integrated care needs. While nursing plays a pivotal role in influencing care quality for this population, current measures predominantly focus on adult populations, creating gaps that hinder the evaluation of nursing contributions across diverse settings such as acute, community, and home care. We examine the importance of quality care measurement for children and young people with complex and integrated care needs and highlight deficiencies in international measurement systems.

Assessing the Quality, Readability, and Acceptability of AI-Generated Information in Plastic and Aesthetic Surgery.

Introduction: Within plastic surgery, a patient's most commonly used first point of information before consulting a surgeon is the internet. Free-to-use artificial intelligence (AI) websites like ChatGPT (Generative Pre-trained Transformers) are attractive applications for patient information due to their ability to instantaneously answer almost any query. Although relatively new, ChatGPT is now one of the most popular artificial intelligence conversational software tools.

One Health Approach of Enterococcal Population Structure and Antibacterial Resistance Along the Food Chain - Four PLADs, China, 2015-2022.

Introduction: Enterococci are considered opportunistic pathogens. However, they can serve as a reservoir of antibacterial resistance (ABR) traits and transfer these to humans through the food chain.

Methods: Antibiotic susceptibility testing and multilocus sequence typing were used to characterize the ABR and population structure of 488 enterococcal isolates recovered along the food chain from four provincial-level administrative divisions (PLADs) in China.