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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. ... -
Raman spectroscopy and multivariate analysis for the non invasive diagnosis of clinically inconclusive vulval lichen sclerosus.
(Royal Society of Chemistry, 2016-11-09)Vulval lichen sclerosus (LS) is a common inflammatory condition associated with an increased risk of developing vulval carcinoma. Diagnosis is usually clinical although biopsy is necessary if the diagnosis is uncertain or ... -
The Effect of Tiotropium in Symptomatic Asthma Despite Low- to Medium-Dose Inhaled Corticosteroids: A Randomized Controlled Trial
(Elsevier, 2015-11-07)BACKGROUND: Tiotropium, a once-daily long-acting anticholinergic bronchodilator, has demonstrated efficacy in patients with asthma who were symptomatic despite treatment with medium- to high-dose inhaled corticosteroids ... -
Limbic encephalitis driven by a pleural mesothelioma: a paraneoplastic complication
(Middle East Journal of Cancer, 2016-10)Paraneoplastic neurological syndromes have only been described with pleural mesothelioma in five cases. We have described a 72-year-old man who developed anterograde amnesia 27 months after diagnosis of epithelioid pleural ... -
Successful treatment of residual pituitary adenoma in persistent acromegaly following localisation by 11C-methionine PET-CT co-registered with MRI.
(European Society of Endocrinology, 2016-08-25)To determine if functional imaging using (11)C-methionine positron emission tomography computed tomography, co-registered with 3D gradient echo MRI (Met-PET/MRI), can identify sites of residual active tumour in treated ... -
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 ... -
Acute bronchodilator responses decline progressively over 4 years in patients with moderate to very severe COPD.
(BioMed Central, 2014-08-31)We previously reported a progressive decline in absolute responses of FEV1 and FVC to a near-maximal dose of 2 different short-acting bronchodilators over 4 years. Since varying host factors and the method of expressing ... -
Palliative Care for COPD: Signs of Progress, but Still a Long Way to Go.
(American Thoracic Society, 2018-06-11) -
A low-frequency inactivating AKT2 variant enriched in the Finnish population is associated with fasting insulin levels and Type 2 diabetes risk
(American Diabetes Association, 2017-07)To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together ...