1,398 results match your criteria: "School of Medicine and Medical Science[Affiliation]"

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Genet Med

December 2024

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:

Article Synopsis
  • The TAOK proteins are important kinases involved in various cellular functions and are linked to neurodevelopmental disorders (NDDs) like those caused by TAOK1 and TAOK2 variants.
  • A study analyzed clinical and genetic data from individuals with these variants, revealing that TAOK1 variants lead to significant neurodevelopmental issues and some novel characteristics, while TAOK2 variants are tied to neurodevelopmental abnormalities, autism, and obesity.
  • This research expands the understanding of these disorders by presenting the largest cohort of individuals with TAOK1-NDD and identifying new variants and phenotypes associated with both TAOK1 and TAOK2.
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Incretins, such as glucagon-like peptide-1 (GLP1) and glucose-dependent insulinotropic polypeptide (GIP), have advanced the treatment landscape of obesity to a new pinnacle. As opposed to singular incretin effects, oxyntomodulin (OXM) activates glucagon receptors (GCGR) and glucagon-like peptide-1 receptors (GLP1R), demonstrating a more dynamic range of effects that are more likely to align with evolving 'health gains' goals in obesity care. Here, we will review the molecular insights from their inception to recent developments and challenges.

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Background: There has been a global rise in prescribing of psychotropic medications. Variations in patterns of use, according to age, gender and drug class type, have also been reported.

Aim: This study aimed to analyse patterns of psychotropic medication use in Ireland according to age group, gender and drug class type, to determine if variations exist, and identify specific nuances to be addressed in future research.

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Endometriosis is a chronic systemic disease, which results in endometrial-type tissue growing outside the uterus, and affects approximately 10% of reproductive-aged women worldwide. Its aetiology is poorly understood, and there is currently no long-term cure. Development and persistence of the disease depend on several coexisting factors including the vaginal microbiome.

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Visual dysfunction of superior colliculus and lateral geniculate nucleus in idiopathic blepharospasm.

J Neurol Sci

November 2024

Grenoble-Alpes University, INSERM, U1216, University Hospital of Grenoble-Alpes, Grenoble Institut Neurosciences, Grenoble, France; Movement Disorders Unit, Department of Neurology, University Hospital of Grenoble-Alpes, Grenoble, France.

Article Synopsis
  • The study explores the role of the superior colliculus (SC) in idiopathic blepharospasm (BP), a condition with an unknown cause that may involve brain structures like the SC, basal ganglia, and others.
  • Using fMRI and visual stimuli, the research compared responses between 10 women with BP and 10 matched controls, revealing that the BP group showed no visual response modulation in the SC and lateral geniculate nucleus (LGN) across various brightness levels.
  • The results suggest dysfunction in the SC and LGN for those with BP, indicating that such brain imaging could be crucial for identifying biomarkers and understanding the condition's underlying mechanisms in adult-onset
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Early mortality in STXBP1-related disorders.

Neurol Sci

October 2024

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.

Article Synopsis
  • Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
  • A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
  • Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.
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Impact of COVID-19 on referrals to paediatric liaison psychiatry at Children's Health Ireland at Crumlin as the pandemic moved to endemic status.

BJPsych Open

October 2024

Department of Child & Adolescent Psychiatry, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.

Background: Rates of acute mental health presentations in youth were increasing pre-pandemic internationally. Longitudinal studies following COVID-19 attest to ongoing deterioration in youth mental health, recognising adverse unintended consequences following public health restrictions.

Aims: To examine whether the initial post-COVID-19 increase in mental health presentations persisted following the reclassification of COVID-19 to endemic status, accompanied by the removal of most restrictions.

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Bovine dairy foods provide several essential nutrients. Fermented bovine dairy foods contain additional compounds, increasing their potential to benefit gastrointestinal health. This review explores the effects of dairy consumption on the gut microbiome and symptoms in gastrointestinal disease cohorts.

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Global burden of cardiovascular diseases: projections from 2025 to 2050.

Eur J Prev Cardiol

September 2024

Yong Loo Lin School of Medicines, National University Singapore, 21 Lower Kent Ridge Rd, Singapore 119077, Singapore.

Article Synopsis
  • The study aims to project cardiovascular disease (CVD) mortality trends and risk factors from 2025 to 2050 to aid healthcare planning.
  • Using historical data and Poisson regression, projections indicate a significant increase in CVD prevalence (90%), crude mortality (73.4%), and DALYs (54.7%), with ischaemic heart disease and high blood pressure as major contributors.
  • Despite a stable age-standardized CVD prevalence, the study underscores a concerning rise in crude mortality due to an aging population, prompting the need for effective healthcare strategies.
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Cell-specific models reveal conformation-specific RAF inhibitor combinations that synergistically inhibit ERK signaling in pancreatic cancer cells.

Cell Rep

September 2024

Systems Biology Ireland, University College Dublin, Dublin, Ireland; Conway Institute of Biomolecular & Biomedical Research, University College Dublin, Dublin, Ireland; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland; Department of Pharmacology, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

Pancreatic ductal adenocarcinoma (PDAC) presents significant challenges for targeted clinical interventions due to prevalent KRAS mutations, rendering PDAC resistant to RAF and MEK inhibitors (RAFi and MEKi). In addition, responses to targeted therapies vary between patients. Here, we explored the differential sensitivities of PDAC cell lines to RAFi and MEKi and developed an isogenic pair comprising the most sensitive and resistant PDAC cells.

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Prevalence of thiamine deficiency in anorexia nervosa: a systematic review and narrative synthesis.

Eur Child Adolesc Psychiatry

September 2024

Department of Psychiatry, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.

Thiamine is an essential vitamin that plays a crucial role in many biochemical processes in the body. Anorexia nervosa (AN) is one potential cause of a state of deficiency which can result in grave medical sequelae. There is limited available evidence of the prevalence of thiamine deficiency in patients who suffer from AN.

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Background: Evolving epidemiological data and increasing antibiotic resistance mandate an update of the European and North American Societies of Pediatric Gastroenterology, Hepatology and Nutrition guidelines.

Methods: Certainty of evidence and strength of recommendations were rated by experts according to the Grading of Recommendation Assessment, Development, and Evaluation approach. PICO (patient population, intervention, comparator, and outcome) questions were developed and voted on by the group.

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Osteoarthritis and basic calcium phosphate crystals - The enemy lurks within!

Osteoarthritis Cartilage

December 2024

School of Medicine and Medical Science, University College Dublin and Department of Rheumatology, Mater Misericordiae University Hospital, Dublin, Ireland.

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Article Synopsis
  • - The main objective of this Cochrane Review protocol is to evaluate how alcohol consumption influences the progression to symptomatic heart failure in individuals who are at risk or have pre-heart failure stages.
  • - The review also aims to examine the impact of alcohol on the deterioration of left ventricular function in those with early stages of heart failure.
  • - Furthermore, the study will investigate the relationship between alcohol consumption and different types of heart failure (e.g., reduced and preserved ejection fraction) over various timeframes.
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Article Synopsis
  • - This study investigated the trends in psychotropic medication use among children and adolescents in Ireland from 2017 to 2021, focusing on variations by age group and gender.
  • - Researchers analyzed data from the Irish pharmacy claims database, revealing a 32% increase in the number of patients aged 5-15 receiving such medications over the study period.
  • - Despite the rising prevalence of psychotropic medication prescriptions in Ireland, the overall rates remain lower compared to other countries, indicating that while use is increasing, it is still not as high as internationally.
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Article Synopsis
  • A study forecasts a 91.2% increase in crude cardiovascular disease (CVD) mortality in Asia from 2025 to 2050, despite a 23.0% decrease in the age-standardized mortality rate.
  • Ischaemic heart disease and stroke will remain the top causes of mortality, with Central Asia experiencing the highest mortality rates while high systolic blood pressure is identified as the leading risk factor across most of Asia.
  • The research highlights the need for targeted health interventions due to the significant variations in CVD burden across different regions in Asia.
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Article Synopsis
  • The study aimed to analyze the disease, demographic, and imaging characteristics linked to different types of calcium pyrophosphate deposition (CPPD) disease, focusing on recurrent acute CPP crystal arthritis, chronic CPP crystal inflammatory arthritis, and crowned dens syndrome (CDS).
  • Researchers utilized data from an international cohort of 618 individuals to investigate the phenotypic traits of each type of CPPD and performed multivariable logistic regression to assess associations between risk factors and inflammatory phenotypes.
  • Key findings indicated that longer disease duration correlated with recurrent acute arthritis, while chronic arthritis was linked to specific joint issues and less associated with metabolic risks, and CDS was more common in males with greater joint involvement. *
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Article Synopsis
  • The study examines how varying drug levels in patients with rheumatoid arthritis can affect the effectiveness of adalimumab and etanercept biosimilars and whether dosing schedules can be adjusted for better results.! -
  • Researchers used population pharmacokinetic (popPK) modeling and simulation to analyze drug concentrations in patients and found that dosing intervals could potentially be modified to reach therapeutic drug levels more quickly.! -
  • Simulation results suggested that administering the etanercept biosimilar every 10 days could achieve steady-state drug concentrations faster than the standard 7-day interval, paving the way for personalized dosing strategies that could improve treatment efficacy and reduce costs.!
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Background: Alport syndrome is a genetically heterogenous disorder resulting from variants in genes coding for alpha-3/4/5 chains of Collagen IV, which results in defective basement membranes in the kidney, cochlea and eye. The syndrome has different inheritance patterns and historically, was thought of as a disease affecting solely males.

Case: A 15-year-old female presented with pedal oedema, hypertension and proteinuria.

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Objective: To identify whether conventional methods of estimating fetal growth (Hadlock's formula), which relies heavily on abdominal circumference measurements, are accurate in fetuses with gastroschisis.

Methods: A retrospective cohort study was performed between the period January 1, 2011 and December 31, 2021 in a tertiary referral maternity hospital identifying all pregnancies with a diagnosis of gastroschisis. Projected fetal weight was obtained using the formula (EFW [Hadlock's formula] + 185 g × [X/7]) where X was the number of days to delivery.

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