23 hasil untuk "Challis, Benjamin G"
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Artikel Jurnal Teks lengkap
Precision Medicine in Phaeochromocytoma and Paraganglioma
Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours…
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Artikel Jurnal Teks lengkap
Do glucagonomas always produce glucagon?
Pancreatic islet α-cell tumours that overexpress proglucagon are typically associated with the glucagonoma syndrome, a rare disease entity characterised by necrolytic migratory erythema, impaired glucose tolerance, thromboembolic complications and psychiatric disturbances. Paraneoplastic phenomena…
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Artikel Jurnal Teks lengkap
The McKittrick–Wheelock syndrome: a rare cause of curable diabetes
McKittrick–Wheelock syndrome (MWS) is a rare consequence of severe dehydration and electrolyte depletion due to mucinous diarrhoea secondary to a rectosigmoid villous adenoma. Reported cases of MWS commonly describe hypersecretion of mucinous diarrhoea in association with dehydration, hypokalaemia…
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Artikel Jurnal Teks lengkap
Loss of Agouti-Related Peptide Does Not Significantly Impact the Phenotype of Murine POMC Deficiency
The hypothalamic melanocortin system is unique among neuropeptide systems controlling energy homeostasis, in that both anorexigenic proopiomelanocortin (POMC)-derived and orexigenic Agouti related-peptide (AgRP)-derived ligands act at the same receptors, namely melanocortin 3 and 4 receptors…
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Glucagonoma-associated dilated cardiomyopathy refractory to somatostatin analogue therapy
A 67-year-old woman presented with a generalised rash associated with weight loss and resting tachycardia. She had a recent diagnosis of diabetes mellitus. Biochemical evaluation revealed elevated levels of circulating glucagon and chromogranin B. Cross-sectional imaging demonstrated a pancreatic…
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Artikel Jurnal Teks lengkap
Peptidomic analysis of endogenous plasma peptides from patients with pancreatic neuroendocrine tumours
RATIONALE: Diagnosis of pancreatic neuroendocrine tumours requires the study of patient plasma with multiple immunoassays, using multiple aliquots of plasma. The application of mass spectrometry based techniques could reduce the cost and amount of plasma required for diagnosis. METHODS: Plasma…
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Artikel Jurnal Teks lengkap
Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers
The succinate dehydrogenase (SDH) enzyme complex functions as a key enzyme coupling the oxidation of succinate to fumarate in the citric acid cycle. Inactivation of this enzyme complex results in the cellular accumulation of the oncometabolite succinate, which is postulated to be a key driver in…
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Artikel Jurnal Teks lengkap
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: Implications for pharmacological glucokinase activation
CONTEXT: Glucokinase (GCK) phosphorylates and thereby “traps” glucose in cells, thus serving as a gatekeeper for cellular glucose metabolism, particularly in hepatocytes and pancreatic beta cells. In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading…
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Artikel Jurnal Teks lengkap
Orexin expression is regulated by alpha-melanocyte stimulating hormone
The hypothalamic melanocortin system plays a fundamental role in the regulation of energy homeostasis. Orexins (hypocretins) are also involved in a diverse range of physiological processes, including food intake. Previous evidence has suggested that hypothalamic orexin expression may be influenced…
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Artikel Jurnal Teks lengkap
A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery
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Artikel Jurnal Teks lengkap
Heterogeneity of glucagonomas due to differential processing of proglucagon-derived peptides
Pancreatic neuroendocrine tumours (pNETs) secreting proglucagon are associated with phenotypic heterogeneity. Here, we describe two patients with pNETs and varied clinical phenotypes due to differential processing and secretion of proglucagon-derived peptides (PGDPs). Case 1, a 57-year-old woman…
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Artikel Jurnal Teks lengkap
Familial Adrenocortical Carcinoma in Association With Lynch Syndrome
CONTEXT: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a poor prognosis. Although the majority of childhood ACC arises in the context of inherited cancer susceptibility syndromes, it remains less clear whether a hereditary tumor predisposition exists for the development of ACC…
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Artikel Jurnal Teks lengkap
Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms: a case series and literature review
BACKGROUND: Malignant oncocytic adrenocortical neoplasms (OANs) are rare tumours with a distinctive biological behaviour compared to conventional adrenocortical carcinoma (ACC). The current prognostic systems overestimate the malignant potential of these tumours, and guidance for surveillance and…
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Artikel Jurnal Teks lengkap
Peripheral administration of the N-terminal POMC fragment 1-28 to Pomc(−/−) mice reduces food intake and weight but does not affect adrenal growth or corticosterone production
Pro-opiomelanocortin (POMC) is a polypeptide precursor that undergoes extensive processing to yield a range of peptides with biologically diverse functions. POMC-derived ACTH is vital for normal adrenal function and the melanocortin α-MSH plays a key role in appetite control and energy homeostasis…
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Artikel Jurnal Teks lengkap
Metabolic dysfunction-related liver disease as a risk factor for cancer
OBJECTIVE: The aim of this study was to investigate the association between obesity, diabetes and metabolic related liver dysfunction and the incidence of cancer. DESIGN: This study was conducted with health record data available from the National Health Service in Tayside and Fife. Genetics of…
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Artikel Jurnal Teks lengkap
Longitudinal clinical and proteomic diabetes signatures in women with a history of gestational diabetes
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Artikel Jurnal Teks lengkap
Longitudinal clinical and proteomic diabetes signatures in women with a history of gestational diabetes
We characterized the longitudinal serum protein signatures of women 6 and 10 years after having gestational diabetes mellitus (GDM) to identify factors associated with the development of type 2 diabetes mellitus (T2D) and prediabetes in this at-risk post-GDM population, aiming to discover potential…
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Artikel Jurnal Teks lengkap
Breast cancer in multiple endocrine neoplasia type 1 (MEN1)
SUMMARY: A 38-year-old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.1304delG) through predictive genetic testing, following a diagnosis of familial hyperparathyroidism. Routine screening for parathyroid and pituitary disease was negative. However, cross-sectional…
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Artikel Jurnal Teks lengkap
Adult-onset hyperinsulinaemic hypoglycaemia in clinical practice: diagnosis, aetiology and management
OBJECTIVE: In adults with hyperinsulinaemic hypoglycaemia (HH), in particular those with insulinoma, the optimal diagnostic and management strategies remain uncertain. Here, we sought to characterise the biochemical and radiological assessment, and clinical management of adults with HH at a…
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Artikel Jurnal Teks lengkap
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility
PURPOSE: Mutations in the mitochondrial enzyme succinate dehydrogenase (SDH) subunit genes are associated with a wide spectrum of tumours including phaeochromocytoma and paraganglioma (PPGL) 1, 2, gastrointestinal stromal tumours (GIST) 3, renal cell carcinoma (RCC) 4 and pituitary adenomas5…