Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, which results in increased patient morbidity.
View Article and Find Full Text PDFPurpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Objectives: The response to glucagon-like peptide-1 (GLP-1) analogues for weight loss varies significantly. We investigated the anthropometric, demographic and clinical characteristics associated with total body weight loss (TBWL) from subcutaneous GLP-1 analogue therapy in patients with obesity in a real-world setting.
Design: Retrospective cohort analysis.
Changes in protein levels of the mammalian cleavage factor, CFIm25, play a role in regulating pathological processes including neural dysfunction, fibrosis, and tumorigenesis. However, despite these effects, little is known about how CFIm25 (NUDT21) expression is regulated at the RNA level. A potential regulator of NUDT21 mRNA are small non-coding microRNAs (miRNAs).
View Article and Find Full Text PDFPatient involvement in psychiatry education struggles to be representative of the patients that doctors will treat once qualified. The issues of mental health stigma, cultural perspectives of mental health and the unique role of teaching, required exploring to establish the barriers and facilitators to increasing the diversity of patients involved in psychiatry education. To explore the causes of this lack of representation, a roundtable event with 34 delegates composed of people with lived experience of mental health issues, people from underserved communities, academics, mental health professionals and charity representatives met to discuss the barriers to involvement in psychiatry education and possible solutions.
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