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SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
(Wiley, 2015-12-28)Mucosal neuromas, thickened corneal nerves and Marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B), and often provide an early clue to the diagnosis of the syndrome. ... -
A follow-up study of the prevalence of valvular heart abnormalities in hyperprolactinemic patients treated with cabergoline.
(Endocrine Society, 2016-08-29)CONTEXT Uncertainty exists whether the long-term use of ergot-derived dopamine agonist (DA) drugs for the treatment of hyperprolactinemia may be associated with clinically significant valvular heart disease; and whether ... -
Current laboratory requirements for adrenocorticotropic hormone and renin/aldosterone sample handling are unnecessarily restrictive.
(Royal College of Physicians, 2017-02)Samples for adrenocorticotropic hormone (ACTH) and aldosterone/renin analysis usually require rapid transport to the receiving laboratory for immediate separation and freezing. In practice, this means assessment is limited ... -
Iodine deficiency amongst pregnant women in South-West England.
(Wiley, 2016-11-02)Iodine deficiency in pregnancy may impair foetal neurological development. The UK population is generally thought to be iodine sufficient; however recent studies have questioned this assumption. Our study aimed to explore ... -
Subclinical hypothyroidism: Should we treat?
(Taylor & Francis, 2017-01-01)Subclinical hypothyroidism (also known as compensated hypothyroidism or mild hypothyroidism) is a condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine ... -
Management of thyroid eye disease in the United Kingdom: A multi-centre thyroid eye disease audit.
(Taylor and Francis, 2017-03-15)This article provides baseline data and highlight any major deficiencies in the current level of care provided for adult patients with thyroid eye disease (TED). We used prospective nonrandomized cross-sectional multicenter ... -
Bony changes in Primary Hyperparathyroidism.
(Oxford Journals, 2017-07-28) -
Maternal thyroid hormone insufficiency during pregnancy and risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis.
(Wiley, 2018-01-11)In the last two decades, several studies have examined the association between maternal thyroid hormone insufficiency during pregnancy and neurodevelopmental disorders in children and shown conflicting results. -
Changing trend in referral to secondary care specialist thyroid eye disease clinic following the Amsterdam declaration.
(Springer, 2017-02-08)Early diagnosis and treatment of thyroid eye disease (TED) improves outcomes. Previous studies have highlighted delays in diagnosis and referral to specialist centres. The Amsterdam declaration (2009) aimed to halve the ... -
Management of patients in a combined thyroid eye clinic in secondary care
(Springer, 2014-02-01)The European Group on Graves' Orbitopathy (EUGOGO) recommends the use of specialised multidisciplinary clinics for the management of thyroid eye disease (TED). In the UK, many patients with TED are managed outside of ...