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Neck and endocrine
Published in Michael Gaunt, Tjun Tang, Stewart Walsh, General Surgery Outpatient Decisions, 2018
Genetic tests are used mainly to screen first- and second-degree relatives of patients with multiple endocrine neoplasia (MEN) syndrome. MEN 1 is caused by an abnormality on the long arm of chromosome 11, while MEN 2 shows an abnormality on chromosome 10. Referral to a medical genetics department is essential, as pre-test and post-test counselling is an important part of the process.
Carbohydrate metabolism
Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013
It may present at any age. Multiple tumours may occur and may be part of the syndrome of multiple endocrine neoplasia (MEN). As with other functioning endocrine tumours, hormone secretion is inappropriate and usually excessive. C-peptide and proinsulin are released in parallel with insulin, and plasma concentrations are therefore inappropriately high in the presence of hypoglycaemia. Some insulinomas secrete just proinsulin. Attacks of hypoglycaemia occur typically at night and before breakfast, associated with hunger, and may be precipitated by strenuous exercise. Personality or behavioural changes may be the first feature; some patients present initially to psychiatrists.
Primary retroperitoneal paraganglioma mimicking a ureteral tumor: a case report and literature review
Published in Postgraduate Medicine, 2020
Most PGLs occur as sporadic tumors. Currently, 30–40% of PGLs are associated with hereditary genetic syndromes, with some higher estimates [3,23]. However, certain hereditary syndromes such as von Hippel–Lindau syndrome, neurofibromatosis type 1, multiple endocrine neoplasia type 2, and familial PGL syndrome have been associated with the development of PGLs [24]. Only 10 to 13 are routinely assessed in genetic panels. Generally, genetic tests are recommended for patients with positive family history, bilateral tumors, or diagnosis before the age of 50 years [25]. The age of our patient was 46 years. Though there was no positive family history, the patient had a history of trigeminal schwannoma resection 6 years ago. Although genetic tests are necessary, patients may not be able to afford them.
Adrenal disorders in pregnancy, labour and postpartum – an overview
Published in Journal of Obstetrics and Gynaecology, 2020
Madhavi Manoharan, Prabha Sinha, Shabnum Sibtain
In about 90% of women, the tumour arises from the adrenal gland. The incidence of metastatic pheochromocytoma is 10% with metastasis commonly reported in lymph nodes, liver, lungs and spine (Kaloostian et al. 2013). Five-year survival rates range from 84% to 96% for benign pheochromocytoma, and 40% for malignant pheochromocytoma (Kaloostian et al. 2014). About 10% of pheochromocytomas are extra adrenal, arising from the remnants of the organs of Zuckerkandl-neural crest tissue, which lies along the abdominal aorta. This incidence is increased to 80% in multiple endocrine neoplasia (MEN) IIA cases (van der Vaart et al. 1993). Pheochromocytoma should be suspected if there is a family history of von Recklinghausen’s syndrome (neurofibromatosis) or of medullary carcinoma of thyroid or other components of the multiple endocrine neoplasia (MEN) syndromes (Bravo and Tagle 2003).
An assessment of the translational relevance of Drosophila in drug discovery
Published in Expert Opinion on Drug Discovery, 2019
Katerina Papanikolopoulou, Amrit Mudher, Efthimios Skoulakis
Repurposed or computationally predicted pharmaceuticals could be expediently tested in vivo in the appropriate fly model. This is illustrated in the α-synuclein-expressing PD fly model used to validate astemizole and ketoconazole. Although both compounds rescued the locomotor impairment of these flies, only ketoconazole attenuated dopaminergic neuron loss [117]. Furthermore, combining rational drug design with Drosophila genetics provides an expedient and powerful systems-pharmacology approach to drug discovery. This methodology was used to search for polypharmacological compounds that inhibit the Ret receptor Tyrosine Kinase, hyperactivated in endocrine neoplasia type 2 (MEN2) patients, but also reduce Tor-dependent toxicity. Using a clever and sophisticated fly model of this condition and the notal bristle phenotypic readout to report epithelial cell transformation, two rationally tailored compounds were shown to be highly effective and minimally toxic. These findings were also validated in mammalian models of multiple endocrine neoplasia 2 [118].