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Novel Splice-Altering Variants in the and Genes Causative of X-Linked Choroideremia and Cone Dystrophy.
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The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.
Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.
View Article and Find Full Text PDFGH Therapy in Non-Growth Hormone-Deficient Children.
Children (Basel)
December 2024
Research Area for Innovative Therapy in Endocrinology, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
Before 1985, growth hormone (GH) was extracted from human pituitaries, and its therapeutic use was limited to children with severe GH deficiency (GHD). The availability of an unlimited amount of recombinant GH (rhGH) allowed for investigating the efficacy of its therapeutic use in a number of conditions other than GHD. Nowadays, patients with Turner syndrome, deficiency, Noonan syndrome, Prader-Willi syndrome, idiopathic short stature, chronic kidney disease, and children born small for gestational age can be treated with rhGH in order to improve adult height.
View Article and Find Full Text PDFSystematic review and meta-analysis of family-based interventions for early psychosis: Carer and patient outcomes.
Schizophr Res
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Healthy Brain and Mind Research Centre, School of Behavioural and Health Sciences, Australian Catholic University, Fitzroy, VIC, Australia; Department of Psychiatry, University of North Carolina, Chapel Hill, NC, United States of America.
Background: Previous reviews have indicated that family interventions in early psychosis are beneficial for patients and family caregivers. Given recent developments in research and service provision an updated review is warranted.
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The Benefits of Hearing Aids for Adults: A Systematic Umbrella Review.
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January 2025
Department of Health Sciences, Faculty of Medicine Health and Human Sciences, Macquarie University, North Ryde, New South Wales, Australia.
Objectives: This umbrella review aims to summarize the major benefits of hearing aid usage in adults by synthesizing findings from published review articles.
Design: A comprehensive search of databases, including MEDLINE, EMBASE, PsycINFO, and Google Scholar, was conducted. The search was limited to English-language review articles published between 1990 and 2023, focusing on hearing aid outcomes in at least 5 adults (aged ≥18 years).
Urban and Rural Differences in Cancer Treatment Disruption Among Patients With COVID-19: An Analysis of the US ASCO COVID-19 in Oncology Registry.
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Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.
Introduction: Cancer patients in rural areas experience greater barriers to treatment access compared with patients in urban areas. There is limited research on how the COVID-19 pandemic affected cancer treatment delivery for rural patients who were also diagnosed with COVID-19. This study has two objectives: to assess (1) the urban-rural differences in cancer care and (2) the predictors of cancer treatment delay or discontinuation (TDD) among patients diagnosed with COVID-19.
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