The purpose of this study is to describe the burden of health care utilisation and early education outcomes of children with and without rare diseases. Using the Born in Bradford birth cohort and its linked routine health care and education data, we looked at cumulative primary care episodes, hospital admissions and medication prescriptions. We assessed education outcomes using Early Years Foundation Stage Profile and the National Curriculum Tests-Key Stage 1 results. Among analytical sample of 13,858, 1711 or 12.3% children were identified with a rare disease by an average age of 14 years. Children with rare diseases were twice more likely to be admitted to hospital compared to children without. Average length of stay was around 5 days in those with rare diseases group compared to less than 1 day in those without. The average number of primary care episodes was 45.4 in children with rare diseases and 28.2 visits in those without. These children were over three times more likely to be on multiple medications. Children with rare diseases had 30% higher risk of being below academic expectations at Foundation Year and, depending on subject, between 50 and 60% higher risks at KS1 tests. Conclusions: Children with rare diseases are significantly more likely to have increased primary care episodes and to have more regular medications. They are likely to have more hospital admissions with a longer stay also. Educationally, they are at higher risk of failing to achieve expected standards in early-year settings. What is Known: • Existing studies of rare diseases have used cross sectional data to describe secondary care data. Previous research has not explored the impact of rare diseases on academic outcomes in children. What is New: • Using Born in Bradford birth cohort and its linked primary and secondary care data, this study provides the most comprehensive estimate of prevalence of rare diseases in any study to date. Children with rare diseases were not only significantly more likely to have contact with primary care and to be admitted to hospitals; they were also more like to be on more regular medications and had higher risk of not achieving expected standards in early-year education outcomes. • Our study is unusual in being able to access linked health and education data and reinforces the importance of adopting a whole system approach to children's health and wellbeing that recognises the close links between health and education.
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http://dx.doi.org/10.1007/s00431-023-05225-4 | DOI Listing |
Mol Ther
January 2025
Department of Integrative Physiology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:
Gene therapy with Adeno-Associated Virus (AAV) vectors requires knowledge of their tropism within the body. Here we analyze the tropism of ten naturally occurring AAV serotypes (AAV3B, AAV4, AAV5, AAV6, AAV7, AAV8, AAV9, AAVrh8, AAVrh10 and AAVrh74) following systemic delivery into male and female mice. A transgene expressing ZsGreen and Cre recombinase was used to identify transduction in a cell-dependent manner based on fluorescence.
View Article and Find Full Text PDFChin Med J (Engl)
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Background: Fibrosis of the connective tissue in the vaginal wall predominates in pelvic organ prolapse (POP), which is characterized by excessive fibroblast-to-myofibroblast differentiation and abnormal deposition of the extracellular matrix (ECM). Our study aimed to investigate the effect of ECM stiffness on vaginal fibroblasts and to explore the role of methyltransferase 3 (METTL3) in the development of POP.
Methods: Polyacrylamide hydrogels were applied to create an ECM microenvironment with variable stiffness to evaluate the effects of ECM stiffness on the proliferation, differentiation, and expression of ECM components in vaginal fibroblasts.
Purpose: To evaluate the effect of osilodrostat and hypercortisolism control on blood pressure (BP) and glycemic control in patients with Cushing's disease.
Methods: Pooled analysis of two Phase III osilodrostat studies (LINC 3 and LINC 4), both comprising a 48-week core phase and an optional open-label extension. Changes from baseline in systolic and diastolic BP (SBP and DBP), fasting plasma glucose (FPG), and glycated hemoglobin (HbA) were evaluated during osilodrostat treatment in patients with/without hypertension or diabetes at baseline.
Cell Death Dis
January 2025
Department of Organ Transplantation and Hepatobiliary Surgery, Key Laboratory of Organ Transplantation of Liaoning Province, The First Hospital of China Medical University, Shenyang, China.
TSC2, a suppressor of mTOR, is inactivated in up to 20% of HBV-associated liver cancer. This subtype of liver cancer is associated with aggressive behavior and early recurrence after hepatectomy. Being the first targeted regimen for advanced liver cancer, sorafenib has limited efficacy in HBV-positive patients.
View Article and Find Full Text PDFInt Immunopharmacol
January 2025
Department of Rheumatology and Clinical Immunology, Department of Health Management, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, China; Department of Health Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. Electronic address:
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