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Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.

Research

Background: Conventional video-electroencephalography (cEEG) is the reference standard for diagnosing and managing neonatal seizures. However, continuous bedside cEEG services are not available in most neonatal units. Hence, an alternative and relatively simple method called amplitude-integrated EEG (aEEG), which uses a limited number of scalp electrodes, has become popular. aEEG allows continuous bedside monitoring of the electrical activity of the brain in neonates.

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Adverse prenatal conditions can induce intrauterine growth restriction and increase the risk of adulthood metabolic disease. Mechanisms underlying developmentally programmed metabolic disease remain unclear but may involve disrupted postnatal circadian rhythms and kisspeptin signalling. 

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Citation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell

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Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

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Bhutan has achieved a substantial reduction in both malaria morbidity and mortality over the last two decades and is aiming for malaria elimination certification in 2025. However, a significant percentage of malaria cases in Bhutan are imported (acquired in another country). The aim of the study was to understand how importation drives local malaria transmission in Bhutan.

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Surgery is an essential part of cancer treatment, particularly for localised solid tumours. Geriatric assessments (GA) with tailored interventions or comprehensive GA (CGA) can identify frailty factors and needs of older adults with cancer, assisting treatment decisions and care strategies to reduce postoperative complications. This systematic review summarises the effects of GA/CGA compared to usual care for older adults with cancer intended for surgery: their impact on treatment decisions, supportive care interventions, postoperative complications, survival, and health-related quality of life.

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Gambling disorder has emerged as a significant public health issue in Australia. Men are more likely than women to gamble and to develop gambling disorder. This study aimed predict men’s problem gambling severity using a multivariate approach comprised of different indicators of psychosocial functioning, past gambling behavior, and demographics (age and socioeconomic disadvantage).

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Western societal norms have long been constrained by binary and exclusionary perspectives on matters such as infertility, contraception, sexual health, sexuality, and gender. These viewpoints have shaped research and knowledge frameworks for decades and led to an inaccurate and incomplete reproductive biology curriculum. To combat these deficiencies in reproductive systems-related education, our teaching team undertook a gradual transformation of unit content from 2018 to 2023, aiming to better reflect real diversity in human reproductive biology.

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Revising public health policy based on new data does not happen automatically. This is acutely relevant to the now undeniable evidence that many diseases develop differently between the sexes and may also be affected by gender. Current health and medical practices across the globe generally fail to cater for sex and gender effects in common diseases.