A5059259474- Adrenal and Paraganglionic Tumors
- Pituitary Gland Disorders and Treatments
- Hormonal Regulation and Hypertension
- Cancer, Hypoxia, and Metabolism
- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Diabetes Treatment and Management
- MRI in cancer diagnosis
- Neurological and metabolic disorders
- Chromatin Remodeling and Cancer
- Diabetes and associated disorders
- Pain Mechanisms and Treatments
- Thyroid Cancer Diagnosis and Treatment
- Diabetes Management and Research
- Diet and metabolism studies
- Gastroesophageal reflux and treatments
- Dysphagia Assessment and Management
- Metabolism, Diabetes, and Cancer
- Streptococcal Infections and Treatments
- Sepsis Diagnosis and Treatment
- Diabetic Foot Ulcer Assessment and Management
- Thyroid Disorders and Treatments
- Vasculitis and related conditions
- Radiomics and Machine Learning in Medical Imaging
Barts Health NHS Trust
2015-2023
St Bartholomew's Hospital
2015-2023
Queen Mary University of London
2014-2023
William Harvey Research Institute
2017-2023
Royal London Hospital
2015-2018
National Health Service
2017
Homerton University Hospital
2015
Whittington Health NHS Trust
2013
Whittington Hospital
2010-2012
University College London
2010-2012
We present the first case of pituitary carcinoma occurring in a patient with succinate dehydrogenase subunit B (SDHB) mutation and history paraganglioma. She was initially treated for glomus tumour external beam radiotherapy. Twenty-five years later, she diagnosed non-functioning adenoma, having developed bitemporal hemianopia. Recurrence lesion (Ki-67 10% p53 overexpressed) occurred 5 after her transsphenoidal surgery, which underwent two further operations followed by Histology showed...
For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to appropriate modality or frequency surveillance imaging. We present results a programme SDHB mutation carriers.Review clinical outcomes regimen in patients identified have an mutation, based on annual MRI, single UK tertiary referral centre.A total 92 were with mutation. 27 index presented symptoms, and 65 asymptomatic carriers.Annual MRI abdomen, alternate year...
Emerging evidence suggests the composition of tumour microenvironment (TME) correlates with clinical outcome and that each type has a unique TME including variable population inflammatory cells. We performed immunohistochemistry on 65 phaeochromocytoma paraganglioma (PPGL) samples 20 normal adrenal medulla for comparison. The immune cells assessed were macrophages, lymphocytes neutrophils, we compared proportion infiltration these histopathological factors. There was higher in tissue to...
Abstract Objective There is consensus that asymptomatic carriers of SDHB mutations should undergo periodic surveillance imaging. MRI has the advantage avoiding radiation exposure but its sensitivity and specificity for detecting phaeochromocytoma paraganglioma (PPGL) are dependent on sequences performed expertise reporting radiologists. We aim to highlight additional value diffusion‐weighted imaging (DWI) MR based surveillance, demonstrating DWI's ability identify small PPGLs at all body...
Abstract Background Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours. Pathogenic variants have been identified in more than 15 susceptibility genes; associated tumours grouped into three Clusters, reinforced by their transcriptional profiles. Cluster 1A PPGLs pathogenic affecting enzymes of the tricarboxylic acid cycle, including succinate dehydrogenase. Within inherited PPGLs, these most common. PPGL known to undergo epigenetic reprograming, here, we report on...
Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits identified approximately 25% of cases. However, clinical genetic information patients with SDHC variants underreported.This retrospective case series collated data from 18 UK Genetics Endocrinology departments.Both asymptomatic disease-affected confirmed germline included.Clinical including tumour type location, surveillance outcomes interventions, variant...
Summary A 57-year-old female presented 17 days after treatment with radioactive iodine (RAI) for difficult-to-control hyperthyroidism. She was febrile, had a sinus tachycardia, and clinically thyrotoxic. Her thyroid function tests showed suppressed TSH <0.02 mU/l, free thyroxine (FT 4 ) >75 pmol/l total triiodothyronine (TT 3 6.0 nmol/l. diagnosed storm managed i.v. fluids, propylthiouracil (PTU) 200 mg four times day, prednisolone 30 once daily propanolol 10 three day. gradually...
Summary Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% familial setting, either isolated or syndromic form. Recently, loss-of-function mutations genes encoding succinate dehydrogenase subunits ( SDHx ) MYC-associated factor X MAX) have been found to predispose co-existence paragangliomas phaeochromocytomas. rare, however, for mutation manifest as an adenoma. We present case lactotroph adenoma patient...
Objective Phaeochromocytomas (PCC) and paragangliomas (PGL) are rare in children. A large proportion of these now understood to be due underlying germline mutations. Here we focus on succinate dehydrogenase subunit B ( SDHB ) gene mutation carriers as tumours carry a high risk malignant transformation. There remains no current consensus with respect optimal surveillance for asymptomatic those whom the presenting tumour has been resected. Method We undertook retrospective analysis...
Preventing Chronic Disease (PCD) is a peer-reviewed electronic journal established by the National Center for Prevention and Health Promotion. PCD provides an open exchange of information knowledge among researchers, practitioners, policy makers, others who strive to improve health public through chronic disease prevention.
Insulin edema and acute neuropathy are rare side effects of insulin initiation or rapid improvement in glycemic control. Both conditions occurring simultaneously very there no previous data on truncal as a dominant feature. A 35-year-old lady, who presented with an infected, necrotic fourth finger was admitted for debridement antibiotics, developed diabetic ketoacidosis. Past medical history included latent autoimmune disease adults. She non-compliant medication had experienced significant...
Summary Mineralocorticoid hypertension is most often caused by autonomous overproduction of aldosterone, but excess other mineralocorticoid precursors can lead to a similar presentation. 11-Deoxycorticosterone (DOC) excess, which occur in 11-β hydroxylase or 17-α deficiencies, DOC-producing adrenocortical tumours patients taking inhibitors, may cause hypertension. We report 35-year-old woman who the third trimester pregnancy was found have large adrenal mass on routine obstetric ultrasound....
SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates. Despite lower penetrance rates in carriers of compared other susceptibility genes, aggressive behavior SDHB-linked warrants intensive surveillance identify resect tumors early. Patients similar genotypes whom PGL manifests often exhibit very heterogeneous phenotypes. Tumors can arise various locations, management be...
At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding the landscape these tumours has rapidly evolved, 18 genes now identified. Among these, mutations in subunits succinate dehydrogenase complex (SDH) most common, causing around half familial PPGL cases. Occurrence PPGLs carriers SDHB, SDHC SDHD subunit been long reported, but it is only recently that variants SDHA have linked to formation. Previously documented...