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Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients with X-Linked Hypophosphatemia.
J Clin Endocrinol Metab
January 2025
Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.
Objective: To examine the evidence addressing the management of X-linked hypophosphatemia (XLH) in children to inform treatment recommendations.
Methods: We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included RCTs and observational studies of individuals less than 18yrs with clinically or genetically confirmed XLH.
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
J Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
Nat Rev Endocrinol
January 2025
Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.
View Article and Find Full Text PDFImagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society.
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFSelf-perceived physical fitness and occurrences of individual levels of autistic traits in adolescents: a cluster association study.
BMC Psychiatry
January 2025
IRyS Group, Physical Education School, Pontificia Universidad Católica de Valparaíso, Valparaíso, Chile.
Background: The association between physical fitness and autistic traits in adolescents remains under explored, especially in adolescents. Understanding this relationship can provide strategies to improve the quality of life of these people.
Objective: To identify the association between cluster characteristics derived from levels of self-perceived physical fitness and the occurrences of individual levels of autistic traits in Brazilian adolescents.
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