Endocrine Abstracts

Pendred syndrome (PS) is an autosomal, recessive disorder characterized by sensorineural deafness, goiter, and a positive perchlorate test. PS, one of the most common forms of syndromic deafness, is caused by biallelic mutations in the SLC26A4 gene, which encodes the anion transporter pendrin. Functionally, pendrin can serve as an exchanger of several anions including chloride, bicarbonate and iodide. Pendrin is expressed in the inner ear, the thyroid and the kidney.</p...

Primary hyperparathyroidism (PHP) is one of the most common endocrine diseases; it is frequently found in asymptomatic patients when there is some doubt as to the appropriate choice of surgery (PTX), medical therapy or watchful waiting. These decisions are generally based on the consensus guidelines produced by the NIH however there is concern that these reflect established medical/surgical practice in the USA as much as clinical evidence. What evidence that does exist is freq...

Pituitary apoplexy is a potentially life and vision threatening neuroendocrine emergency, which can often be misdiagnosed in the absence of the clinical hallmark of sudden onset headache and visual disturbance in a patient previously known to harbour a pituitary tumour. We report a 30 years old male patient with history of Vitiligo who presented to the emergency department with a 1-week history of vomiting, abdominal pain and lethargy along with postural hypotension and a very...

Antibodies to CD3 are potent immunosuppressants now applied as non Fc-receptor (FcR) binding monoclonals.Data from our laboratory demonstrated that in NOD mice CD3 antibodies could reverse recent onset disease by restoring tolerance to beta cell antigens in a durable fashion. Thus in mice presenting full-blown diabetes, a five consecutive day treatment with low doses of the hamster anti-CD3 monoclonal antibody 145 2C11 or its F(ab)′2 fragments indu...

Many feeding hormones that are produced by peripheral tissues depend in part or whole on their abilities to cross the blood–brain barrier (BBB) in order to access their CNS sites of action. Some of these hormones, such as leptin, are transported across the BBB by saturable transport systems. A hallmark of BBB saturable transport systems for regulatory substances is that they are themselves modulated by pathophysiological events. Leptin transport, for example, is decreased...

Introduction: The commonest cause of orbitopathy is Graves’ disease but the differential diagnosis includes primary and secondary neoplasia, inflammatory, vascular and infective causes. We report an exceedingly rare case of orbitopathy as the presenting feature of Acromegaly.Case report: A 43 year old lady presented with ‘periorbital puffiness’ and irritable eyes. Clinical evaluation revealed orbitopathy and magnetic resonance imaging (MRI...

Background: Anti-thyroid peroxidase (TPO) antibodies are the serological hallmark of autoimmune thyroid disease and are often used for the establishment of the diagnosis of Graves’ disease (GD).Aim: To investigate the diagnostic value of the anti-TPO antibodies in a series of patients with GD.Patients and methods: All patients presenting to our Department with GD between 1/2004-6/2007 were studied. The diagnosis was based on t...

Clinical case: A 21 year-old Caucasian kitchen porter presented with an episode of acute severe muscle weakness. He was receiving treatment for Graves’ disease which had been diagnosed two months previously. He was fully alert, normotensive, tachycardic, with a flaccid quadriparesis, diminished reflexes and flexor plantars. Sensation was not impaired and his muscles were diffusely tender on palpation. Blood tests revealed hypokalaemia (K+1.9 mmol/l), hypomagnes...

The dysregulation of the splicing process has emerged as a novel hallmark of metabolic and tumor pathologies. Specifically, in breast cancer (BCa), which represents the most diagnosed cancer type among women worldwide, several oncogenic splicing variants have been reported to have a relevant pathophysiological role. This is the case of the splicing variants of HER2 gene, or the In1-ghrelin and SST5TMD4 isoforms, which exhibit oncogenic roles, increasing the malignancy, poor pr...

IntroductionAlternative splicing allows the generation of multiple RNA isoforms from a single pre-RNA molecule, and thereby contributes to a multitude of physiological processes, but can also be involved in many diseases, including cancer. Indeed, disruption of alternative splicing has been linked to key cancer features, such as tumor growth, metastasis and hormone responsiveness and is increasingly regarded as a novel and transversal cancer hallmark. Th...