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Orphanet J Rare Dis
January 2025
Ionis Pharmaceuticals, Inc, 2855 Gazelle Court, Carlsbad, CA, 92010, USA.
Background: Hereditary angioedema (HAE) is a rare, autosomal dominant disorder causing swelling attacks in various parts of the body, resulting in impacts on health-related quality of life (HRQoL). The symptoms of HAE and its impacts on HRQoL have been well-documented in adults; however, relatively little is known about the experiences of adolescents with HAE. The objective of this study was to use qualitative interviews to investigate how adolescents experience HAE symptoms and how HAE impacts their HRQoL.
View Article and Find Full Text PDFJ Gastrointest Surg
January 2025
Familial and Hereditary Cancers Institute, Tehran, Iran. Electronic address:
Background: Understanding the heterogeneity of a population at risk is an important step in the early detection of gastric cancer. We aimed to cluster demographic, hematological, and biochemical markers of gastric cancer in a heterogeneous sample of patients.
Methods: Data of 695 adult patients (50.
Animals (Basel)
December 2024
Sydney School of Veterinary Science, The University of Sydney, Camden, NSW 2570, Australia.
Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich (USZ), and University of Zurich (UZH), CH-8091 Zurich, Switzerland.
Context: Pheochromocytomas and paragangliomas (PPGLs) are rare endocrine tumors that frequently produce catecholamines. Catecholamine-induced cardiometabolic complications substantially contribute to increased morbidity and mortality in PPGL patients prior to surgical resection.
Objective: To determine whether markers of elevated cardiometabolic risk persist in patients following PPGL resection.
J Sleep Res
December 2024
Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
This study aimed to improve our understanding of sleep problems as a comorbidity of hereditary deaf-blindness due to Usher syndrome type 2a. Fifteen patients with Usher syndrome type 2a with a conclusive genetic diagnosis and 15 unaffected controls participated in comprehensive sleep and activity assessments for 2 weeks, using the MotionWatch 8 actigraph and consensus sleep diary. Various sleep parameters including sleep opportunity window, sleep latency, sleep efficiency, and self-reported sleep quality were analysed.
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