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Repeat expansions in gene in refractory chronic cough.
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 PDFLong-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.
Ann Pediatr Endocrinol Metab
January 2025
Department of Medicine, Surgery and Health Science, University of Trieste, Trieste, Italy.
Long-acting growth hormones (LAGHs) represent a significant advancement in the treatment of pediatric growth hormone deficiency (GHD), offering an alternative to daily recombinant human growth hormone (rhGH) therapy. Traditional rhGH treatments, while effective, require daily injections, often leading to poor adherence due to the frequency of dosing, injection pain, and difficulties with storage and travel. In contrast, LAGHs, such as somatrogon, somapacitan, and lonapegsomatropin, are designed for once-weekly administration, improving patient compliance and quality of life.
View Article and Find Full Text PDFElective Aortic Surgery for Prevention of Aortic Dissection in Turner Syndrome: The Potential Impact of Updated European Society of Cardiology and International Turner Syndrome Consensus Group Guidelines on Referrals to the Heart Team.
Clin Endocrinol (Oxf)
January 2025
Oxford Heart Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Objective: The risk of aortic dissection is increased in Turner Syndrome (TS). Aortic dilation is thought to contribute to this risk and may be managed with elective aortic surgery. New TS guidance has lowered the aortic size thresholds for consideration of aortic surgery.
View Article and Find Full Text PDFSpreading the Word: Communicating Evidence-Based Guidelines About Turner Syndrome to Patients, Parents, Providers, and Payors.
Am J Med Genet C Semin Med Genet
January 2025
GeneDx LLC, Gaithersburg, Maryland, USA.
Given the overwhelming volume of medical information, medical guidelines play a key role in informing clinicians and payors and guidelines directly affect how patients, and their families will be treated. In this review, we describe the production cycle of international guidelines for Turner syndrome (TS) and promote the timely and proactive dissemination of these guidelines. We encourage deliberate adoption of an updated standard of care by providers, payors, patients and their families, and professional organizations.
View Article and Find Full Text PDFRevisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
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