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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. ... -
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 ... -
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 ... -
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
(BioMed Central, 2017-05-19)Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. -
Endocrinology update
(Royal College of Physicians, 2017-02) -
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
(American Diabetes Association, 2017-07)Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have ... -
Considerations for management of patients with diabetic macular edema: optimizing treatment outcomes and minimizing safety concerns through interdisciplinary collaboration
(Elsevier, 2017-01)Diabetes is a growing worldwide epidemic and a leading cause of blindness in working-age people around the world. Diabetic retinopathy (DR) and diabetic macular edema (DME) are common causes of visual impairment in people ... -
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
(Nature, 2016-11)Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a ... -
Gynaecomastia
(BMJ, 2016-09-22)