Clin Endocrinol (Oxf)
December 2024
The management of hypoglycaemia is pivotal in the care of patients with insulinoma. Blood glucose monitoring and regulation needs careful attention pre- and peri-operatively for patients undergoing surgical resection and as part of the long-term management for patients with inoperable or metastatic disease. Hypoglycaemia symptoms are frequently pervasive and disabling, with many patients showing impaired hypoglycaemia awareness that can lead to life-threatening severe hypoglycaemia.
View Article and Find Full Text PDFAutoimmune Addison's disease (AAD) arises from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. The first genome wide association study (GWAS) with patients from Scandinavian Addison's registries has identified association signals at four novel loci in the genes LPP, SH2B3, SIGLEC5, and UBASH3A. To verify these novel risk loci, we performed a case-control association study in our independent cohort of 420 patients with AAD from the across the UK.
View Article and Find Full Text PDFAutoimmune Addison's disease (AAD) is defined as primary adrenal insufficiency due to immune-mediated destruction of the adrenal cortex. This destruction of steroid-producing cells has historically been thought of as an irreversible process, with linear progression from an ACTH-driven compensated phase to overt adrenal insufficiency requiring lifelong glucocorticoid replacement. However, a growing body of evidence suggests that this process may be more heterogeneous than previously thought, with potential for complete or partial recovery of glucocorticoid secretion.
View Article and Find Full Text PDFA woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening.Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed.
View Article and Find Full Text PDFType I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland, Canada, and Alaska presenting with viral diseases, including life-threatening COVID-19 or influenza, in addition to meningoencephalitis and/or hemophagocytic lymphohistiocytosis following live-attenuated viral vaccination. The affected individuals bore the same homozygous IFNAR2 c.
View Article and Find Full Text PDFLive attenuated viral vaccines (LAV) have saved millions of lives globally through their capacity to elicit strong, cross-reactive and enduring adaptive immune responses. However, LAV can also act as a Trojan horse to reveal inborn errors of immunity, thereby highlighting important protective elements of the healthy antiviral immune response. In the following article, we draw out these lessons by reviewing the spectrum of LAV-associated disease reported in a variety of inborn errors of immunity.
View Article and Find Full Text PDFEndocrinol Diabetes Metab Case Rep
May 2019
Primary hyperparathyroidism (PHPT) is characterised by the overproduction of parathyroid hormone (PTH) due to parathyroid hyperplasia, adenoma or carcinoma and results in hypercalcaemia and a raised or inappropriately normal PTH. Symptoms of hypercalcaemia occur in 20% of patients and include fatigue, nausea, constipation, depression, renal impairment and cardiac arrythmias. In the most severe cases, uraemia, coma or cardiac arrest can result.
View Article and Find Full Text PDFJ Healthc Inf Manag
December 2004
As healthcare information becomes more digitized, hospitals are adopting critical diagnostic tools to improve patient care decisions, while reducing errors and increasing overall efficiency. According to Radiology (2000), 75 percent of the imaging procedures performed in 1995 used devices that were not available in 1970. Today, imaging applications continue to move from research and development into common use each year With regard to digital imaging, Picture Archiving and Communication Systems (PACS) perhaps have changed radiology more than any other application in the past few decades.
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