38 hasil untuk "Challis, Benjamin"
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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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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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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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Quantitative Assessment of a Novel Device Designed for Patient-centric Sampling of Dried Plasma Using Targeted Proteomics
Technological advancements have significantly enhanced proteomics by improving the quality, depth, and timeliness of proteomic data, making mass spectrometry a promising tool for personalized medicine. To enable successful longitudinal population-level monitoring, it is essential to have…
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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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Avoiding prostate bed radiation for the PSMA-PET detected nodal recurrence patient post prostatectomy
BACKGROUND: Nodal only recurrence post radical prostatectomy (RP) is increasingly recognised in the PSMA scan era. Management is controversial with a curative approach usually incorporating prostate bed and nodal irradiation (PB + NRT) in combination with long-term hormonal therapy. It is unknown…
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Artikel Jurnal Teks lengkap
EFFECTIVENESS OF BEVACIZUMAB TO MANAGE SYMPTOMATIC STEROID REFRACTORY PSEUDOPROGRESSION OCCURRING DURING OR EARLY FOLLOWING RADIATION THERAPY FOR GLIOBLASTOMA
AIMS: Approximately 15% of patients with glioblastoma (GBM) managed with Stupp Protocol(Stupp60Gy), experience symptomatic steroid-refractory mass effects from pseudoprogression resulting in significant morbidity. Beva- cizumab (BEV) potentially produces a clinical response allowing corticosteroid…
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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
Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?
CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia/tumours of endocrine glands. MEN1-related disease, moreover, malignancy related to MEN1, is increasingly responsible for death in up to two-thirds of patients. Although…
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Artikel Jurnal Teks lengkap
Enhancing collaboration between academia and industry in kidney disease research
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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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RADT-30. MANAGEMENT OF PRESUMED PSEUDOPROGRESSION WITH EARLY BEVACIZUMAB IN THE THREE MONTHS AFTER HIGH DOSE RADIATION THERAPY FOR GLIOBLASTOMA
BACKGROUND: Optimal management for symptomatic steroid-refractory pseudoprogression (rPsP) following IMRT for Glioblastoma remains poorly defined. This study examined radiological volumetric response and clinical outcomes following use of early Bevacizumab (earlyBEV), defined as commencing during…
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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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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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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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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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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…