A5038738550- Parathyroid Disorders and Treatments
- Bone health and treatments
- Neuroendocrine Tumor Research Advances
- Vitamin D Research Studies
- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Thyroid and Parathyroid Surgery
- Neonatal Respiratory Health Research
- Lung Cancer Research Studies
- Infant Nutrition and Health
- Sexual Differentiation and Disorders
- Protein Kinase Regulation and GTPase Signaling
- Medical Imaging and Pathology Studies
- Pancreatic and Hepatic Oncology Research
- Genomics and Rare Diseases
- Birth, Development, and Health
- Diabetes Management and Research
- Hormonal and reproductive studies
- Prenatal Substance Exposure Effects
- Adrenal and Paraganglionic Tumors
- Magnesium in Health and Disease
- Multiple Sclerosis Research Studies
- Mechanisms of cancer metastasis
- Obstructive Sleep Apnea Research
- Myasthenia Gravis and Thymoma
University of Oxford
2014-2022
Oxford Centre for Diabetes, Endocrinology and Metabolism
2014-2022
Churchill Hospital
2014-2022
Royal Oldham Hospital
2021
Manchester Royal Infirmary
2021
Royal Derby Hospital
2021
The University of Texas Southwestern Medical Center
2015
Southwestern Medical Center
2015
Oxford University Hospitals NHS Trust
2014
Stoke Mandeville Hospital
2013
Summary Adiposity is associated with reduced fertility in men. The aetiology multifactorial, obese men at greater risk of suffering from impaired spermatogenesis, circulating testosterone levels, erectile dysfunction and poor libido. diagnosis treatment observed therefore requires insight into the underlying pathology, which has hormonal, mechanical psychosocial aspects. This article summarises current epidemiological, experimental clinical trial evidence perspective a practicing clinician....
SUMMARY Primary hyperparathyroidism (PHPT) is the presence of hypercalcaemia with an elevated or inappropriately normal parathyroid hormone level. In clinical psychiatry this often detected on routine blood investigations. This article aims to help mental health professionals understand relevance PHPT and offers some guidance about further management patients presenting endocrine abnormality in settings. can be associated both physical problems individuals, making it a crucial diagnosis that...
Opiate drugs such as morphine are in extensive use for pain relief and palliation. It is well established that these can cause changes endocrine function, but effects not always sufficiently appreciated clinical practice, especially relation to the hypothalamic-pituitary-adrenal (HPA) axis. Herein, we report on an 18-year-old man who was diagnosed with a slipped left femoral epiphysis following long history of his leg. On examination, he thought look relatively young age therefore...
Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% all intracranial neoplasms in humans. develop mice lacking prolactin receptor (PRLR), is a member cytokine superfamily that signals via Janus kinase-2-signal transducer and activator transcription-5 (JAK2-STAT5) or phosphoinositide 3-kinase-Akt (PI3K-Akt) pathways to mediate changes transcription, differentiation proliferation. To elucidate role PRLR gene human prolactinomas, we determined sequence 50 DNA...
Prenatal ethanol exposure increases collagen deposition and alters surfactant protein (SP) expression immune status in lungs of near-term fetal sheep. Our objectives were to determine 1) whether these prenatal effects repeated gestational persist after birth 2) phospholipid composition is altered following exposure. Pregnant ewes chronically catheterized at 90 days age (DGA) given a 1-h daily infusion (0.75 g/kg, n = 9) or saline (n 7) from 95 135 DGA; administration ceased DGA. Lambs born...
Adaptor protein 2 (AP2), a heterotetrameric complex comprising AP2α, AP2β2, AP2μ2 and AP2σ2 subunits, is ubiquitously expressed involved in endocytosis trafficking of membrane proteins, such as the calcium-sensing receptor (CaSR), G-protein coupled that signals via Gα11. Mutations CaSR, Gα11 AP2σ2, encoded by AP2S1, cause familial hypocalciuric hypercalcaemia types 1-3 (FHH1-3), respectively. FHH3 patients have heterozygous AP2S1 missense Arg15 mutations (p.Arg15Cys, p.Arg15His or...
Mutations of the sigma subunit heterotetrameric adaptor-related protein complex 2 (AP2σ) impair signalling calcium-sensing receptor (CaSR), and cause familial hypocalciuric hypercalcaemia type 3 (FHH3). To date, FHH3-associated AP2σ mutations have only been identified at one residue, Arg15. We hypothesized that additional rare variants may also be associated with altered CaSR function hypercalcaemia, sought for these by analysing >111 995 exomes (>60 706 from ExAc dbSNP, 51 289 Geisinger...
Familial hypocalciuric hypercalcemia (FHH) is a genetic condition associated with hypocalciuria, hypercalcemia, and, in some cases, inappropriately high levels of circulating parathyroid hormone (PTH). FHH inactivating mutations the gene encoding Ca2+-sensing receptor (CaSR), GPCR, and GNA11 G protein subunit α 11 (Gα11), implicating defective GPCR signaling as root pathophysiology for FHH. However, downstream mechanism by which CaSR activation inhibits PTH production/secretion incompletely...
We present a case of young female patient with rare cause relapsing and remitting Cushing's syndrome due to ectopic ACTH secretion from thymic neuroendocrine tumour. A 34-year-old presented constellation symptoms syndrome, including facial swelling, muscle weakness cognitive impairment. use the terms 'relapsing remitting' in this report, given unpredictable time course symptoms, which led delay 2 years before correct diagnosis hypercortisolaemia. Diagnostic workup confirmed secretion, mass...
Multiple endocrine neoplasia type 1 (MEN1), caused by mutations in the MEN1 gene encoding menin, is an autosomal dominant disorder characterised combined occurrence of parathyroid, pituitary and pancreatic neuroendocrine tumours (NETs). Development these associated with wide variations their severity, order ages (from <5 to >80 years), requiring life-long screening. To improve tumour surveillance quality life, better circulating biomarkers, particularly for NETs that are higher...
High levels of ethanol (EtOH) consumption during pregnancy adversely affect fetal development; however, the effects lower exposure are less clear. Our objectives were to assess daily EtOH (3.8 USA standard drinks) on fetal-maternal physiological variables and brain, particularly white matter. Pregnant ewes received intravenous infusions (0.75 g/kg maternal body wt over 1 h, 8 fetuses) or saline (8 from 95 133 days gestational age (DGA; term ∼145 DGA). Maternal arterial blood was sampled at...
Abstract Context Autosomal dominant hypocalcemia types 1 and 2 (ADH1 ADH2) are caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) its signaling partner, G-protein subunit α 11 (Gα 11), respectively. More than 70 different CaSR mutations, but only 6 Gα reported to date. Methods We ascertained additional ADH families investigated them for mutations. The effects identified variants on were evaluated transiently transfecting wild-type (WT) variant expression...
Objective To compare the characteristics and short-term outcomes in extremely preterm infants, who developed necrotizing enterocolitis (NEC) following a packed red blood cell transfusion (pRBC) within 48 h (TANEC), with those NEC beyond (non-TANEC).Setting A single-center retrospective cohort study Tertiary neonatal intensive care unit UK over 5-year periodPatients methods Extremely premature infants (23–27 weeks gestation) were selected. TANEC non-TANEC incidence calculated from confirmed...
Cash WJ, Knisely AS, Waterhouse C, Iqbal M, Stokes V, Byrne B, McCormick PA. Successful pregnancy after liver transplantation in progressive familial intrahepatic cholestasis, type 1. Pediatr Transplantation 2011: 15: E174–E176. © 2010 John Wiley & Sons A/S. Abstract: A woman who had undergone for genetically documented ATP8B1 disease/progressive 1, successfully conceived, carried, and was delivered of a healthy child. The its management are described; implications discussed.
OBJECTIVE: To measure retinal vascular oximetry (oxygen saturation [SO2] and partial oxygen pressure [PO2]) diameter in multiple sclerosis (MS) patients using a novel technology - the Oxymap® T1 Retinal Oximeter. BACKGROUND: Optic neuritis (ON), common manifestation of (MS), often results optic atrophy, clinical finding characterized by pallor vessel attenuation. date, there is no objective vivo method for measuring magnitude or DESIGN/METHODS: A cohort healthy controls, MS with prior...
Abstract Adaptor-Related Protein Complex 2 Sigma-1 Subunit ( AP2S1 ) encodes AP2σ2, which forms part of the heterotetrameric AP2 complex that is composed α, β2, μ2, and σ2 subunits has a pivotal role in clathrin-mediated endocytosis (CME) 1–3 . variants involving Arg15 residue are associated with familial hypocalciuric hypercalcaemia type 3 (FHH3) 1,4–6 Here, we report 5 different (AP2σ2: p.Arg10Trp, p.Arg10Gln, p.Lys18Glu, p.Lys18Asn p.Arg61His) 26 patients neurodevelopmental delay, whom...
A 35-year-old right-handed male chef reported three similar neurological episodes in the preceding 6 months. Each episode began with a paroxysm of sneezing. In first, sneezing was followed by sudden onset dizziness, and then over few minutes double vision, left-sided paraesthesiae, weakness severe headache, all resolving after hours. The second third episodes, approximately 2 months apart, were less severe. During event, he also noticed his right pupil bigger than left. episode, weeks before...
Type 2 diabetes has been referred to as the global epidemic of 21st century, and is associated with significant morbidity premature mortality. Estimates suggest that over 50% people will at some point need insulin injections help treat their diabetes. Once daily are being increasingly used initiate in development novel, safe, once basal insulins low rates hypoglycaemia important achieve internationally recommended glycaemic targets for individual patients. Insulin degludec a novel analogue...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)