RSS 1.0Endocrinology
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The current landscape of European registries for rare endocrine conditions
(BioScientifica, 2019-01)Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres ... -
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
(Bioscientifica, 2019-02-01)While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ... -
Novel methods in adrenal research: a metabolomics approach.
(Springer Link, 2019-02-06)Metabolic alterations have implications in a spectrum of tissue functions and disease. Aided by novel molecular biological and computational tools, our understanding of physiological and pathological processes underpinning ... -
An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.
(2019-03-01)Objective Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these are now understood to be due to underlying germline mutations. Here we focus on succinate dehydrogenase subunit ... -
Pseudoacromegaly
(Elsevier/Science Direct, 2018-11-15)© 2018 Elsevier Inc. Individuals with acromegaloid physical appearance or tall stature may be referred to endocrinologists to exclude growth hormone (GH) excess. While some of these subjects could be healthy individuals ... -
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.
(2018-08-01)Adrenocortical carcinoma (ACC) is an aggressive malignancy with poor response to chemotherapy. In this study, we evaluated a potential new treatment target for ACC, focusing on the mitochondrial reduced form of NAD phosphate ... -
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
(Oxford University Press, 2018-12-03)Context Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 ... -
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
(2019-01-01)Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children ... -
Molecular targets of atypical antipsychotics: From mechanism of action to clinical differences
(Elsevier/Science Direct, 2018-12)The introduction of atypical antipsychotics (AAPs) since the discovery of its prototypical drug clozapine has been a revolutionary pharmacological step for treating psychotic patients as these allow a significant recovery ... -
Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2
(2018-09-01)© 2018 BJS Society Ltd Published by John Wiley & Sons Ltd Background: In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary ... -
Metabolic Syndrome in Cushing's Syndrome Patients.
(2018)Cushing's syndrome (CS), including visceral obesity, dyslipidemia, hypertension and diabetes among its many manifestations, is "a model" of metabolic syndrome. Glucocorticoid (GC) excess, through a combination of effects ... -
Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family.
(2018)Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15-30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, ... -
Quality of life in patients with adrenal disease: A systematic review.
(2018-04-19)BACKGROUND: Evaluating the patient with adrenal disease is challenging due to the lack of precise clinical and biochemical parameters for disease control. Quality of life (QOL) evaluation aims to measure the patient's ... -
International Union of Basic and Clinical Pharmacology. CV. Somatostatin Receptors: Structure, Function, Ligands, and New Nomenclature.
(2018-10)Somatostatin, also known as somatotropin-release inhibitory factor, is a cyclopeptide that exerts potent inhibitory actions on hormone secretion and neuronal excitability. Its physiologic functions are mediated by five G ... -
Focus on acute kidney injury 2017
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Overexpression of melanocortin 2 receptor accessory protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure.
(2018-12)OBJECTIVE: Melanocortin 2 receptor accessory protein 2 (MRAP2) has a critical role in energy homeostasis. Although MRAP2 has been shown to regulates a number of GPCRs involved in metabolism, the key neurons responsible for ...
