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Patient Relat Outcome Meas
January 2025
Novo Nordisk, Søborg, 2860, Denmark.
Purpose: Growth hormone deficiency (GHD) causes decreased growth rate in children, resulting in short stature in childhood and adulthood. Daily subcutaneous injections with growth hormone (GH) have been standard treatment. Newer weekly GH formulations now exist.
View Article and Find Full Text PDFJPRAS Open
March 2025
Department of Plastic and Reconstructive Surgery, University of the Ryukyu Hospital, Okinawa, Japan.
Total pharyngo-laryngo-esophagectomy (TPLE) with free jejunal transplantation (FJT) is the standard reconstructive procedure for hypopharyngeal cancer, typically utilizing the superior thyroid artery as the recipient vessel. However, patient-specific anatomical variations and comorbidities can significantly complicate this surgery. We present a unique case of a 68-year-old male with hypopharyngeal cancer who exhibited multiple challenges, including short stature (126 cm), low weight (35 kg), cervical spondylosis, and a history of vertebroplasty, highlighting the complexities inherent in such reconstructions.
View Article and Find Full Text PDFAnn 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 PDFMed Sci Sports Exerc
November 2024
Department of Biomedical Sciences for Health, Università degli Studi di Milano, ITALY.
Purpose: Cigarette smoking (CS) induces systemic changes that impair cardiorespiratory and muscular function both at rest and during exercise. Although these abnormalities are reported in sedentary, middle-aged smokers (SM) with pulmonary disease, few and controversial studies focused on young, physically active SM at the early stage of smoking history. This study aimed at assessing the impact CS on cardiorespiratory and metabolic response during an incremental test and the subsequent recovery in young, physically active SM without known lung or cardiovascular disease.
View Article and Find Full Text PDFClin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
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