Unlabelled: In this retrospective study spanning 22 years, 167 untreated females with Ullrich-Turner syndrome were identified and their case records followed throughout their growth period. Information on total and segmental height and weight was retrieved from the case records and used to plot growth curves. Centiles from birth to adulthood were calculated which showed that the normal pubertal growth spurt was absent. Compared with normal French reference standards, the adult total height deficit was about 21 cm and the adult upper body height deficit was about 15 cm.
Conclusion: Reference curves for untreated Ullrich-Turner syndrome are provided, which should form a basis for assessing the impact of growth-promoting treatment in this disorder.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/BF02282835 | DOI Listing |
Am J Med Genet C Semin Med Genet
January 2025
Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Health care transition is a process by which children with chronic medical conditions gradually and purposefully move from pediatric to adult-centered health care systems. While transition guidelines have been published by multiple national and international organizations, transition processes have not been optimized for many populations, including youth with Turner syndrome (TS). Numerous barriers exist, at both the system and individual/family level.
View Article and Find Full Text PDFGenomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFJ Pediatr Nurs
January 2025
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, United States of America. Electronic address:
Genomics is a lifespan competency that has relevance for pediatric nursing practice. Identifying individuals who could benefit from genomic healthcare can enable timely diagnosis and treatment to improve health and wellbeing outcomes. Nurse practitioners (NPs) must have genomic competency to provide high quality, comprehensive pediatric care and support families through the continuum of care.
View Article and Find Full Text PDFKardiol Pol
January 2025
2nd Department of Radiology, Medical University of Lublin, Lublin, Poland.
ERJ Open Res
January 2025
Centre for Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Introduction: Refractory chronic cough (RCC), persisting despite addressing contributory diagnoses, is likely underpinned by neurally mediated cough hypersensitivity. disorders are genetic neurodegenerative conditions caused by biallelic repeat expansion sequences, commonly presenting with cough, followed by neurological features including cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). The prevalence and identifying clinical characteristics of repeat-expansion disorders in patients with RCC are unknown.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!