The prevalence of multiple sclerosis in the Rochdale Metropolitan Borough in the north east of Greater Manchester has been established. Case ascertainment was partly prospective via a neurological register from 1979 and by contact with general practitioners, therapists, and social services. On prevalence day, 1 January 1989, 254 patients with multiple sclerosis were living in Rochdale. The over...

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mu...

The bone mineral density increments in patients with sporadic primary hyperparathyroidism after parathyroidectomy have been studied by several investigators, but few have investigated this topic in primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Further, as far as we know, only two studies have consistently evaluated bone mineral density values after parathyroid...

INTRODUCTION Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. Gangliomatosis of the gastrointestinal tract and its complications may also occur in patients with this disease. CASE PRESENTATION We prese...

OBJECTIVE This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND METHODS Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced. RESULTS A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insG...

A case of multiple endocrine adenopathy type I associated with a solitary carcinoid tumour is described. During anaesthesia and characteristic syndrome consisting of hypertension, tachycardia and flushing occurred. The possible mechanism for this are discussed.

Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J Clin Endocrinol Metab 1996; 81: 4204–4211 15. Raue F, Frank-Raue K, Grauer A. Multiple endocrine neoplasia type 2. Clinical features and screening. Endocrinol Metab Clin North Am 1994; 23: 137–156 16. ...

Usually, primary hyperparathyroidism is the first endocrinopathy to be diagnosed in patients with multiple endocrine neoplasia type 1, and is also the most common one. The timing of the surgery and strategy in multiple endocrine neoplasia type 1/hyperparathyroidism are still under debate. The aims of surgery are to: 1) correct hypercalcemia, thus preventing persistent or recurrent hyperparathyr...