Endocrine Abstracts

Some laminopathies associate both progeria and sclerodermic components (Am J Med Genet A 2006 Hennekam, J Cell Sci 2008 Sagelius), but most sclerodermic syndromes are not associated to LMNA mutations despite the presence of nuclear envelope antibodies, mainly directed to lamin (PNAS 1983 McKeon, Eur Respir J 2011 Dib).A 15-th year old girl was referred for severely imbalanced diabetes and a voracious appetite interpreted as bi...

Context: The influence of beta cell replacement on daily glucose profile in Type 1 diabetes mellitus (T1DM) is not firmly established.Objective: To examine the influence of islet transplantation (IT) on the various component of dysglycemia in T1DM patients.Design, setting and patients: Single arm open labeled study. Twenty-three consecutive patients with T1DM, 11 males and 12 females, 14 non uremic and 9 uremic with a previous kidn...

MEN1, autosomal dominant, is characterized by combined tumours of the parathyroid glands, pancreatic islet cells, and the anterior pituitary, sometimes associated with other endocrine (adrenocortical, foregut carcinoid) and nonendocrine (lipoma, angiofibroma, collagenoma, ependymoma, meningioma) tumors. It is caused by inactivating mutations of the MEN1 tumour suppressor gene (chromosome 11q13), encoding menin. Menin, involved in activation of gene transcription, regu...

Long-term benefit-risk ratio of IT remains poorly evaluated. The aim of this work was to determine the evolution of macroangiopathic complications 5 years after IT.21 out of the 36 prospectively followed islet-transplanted patients in a single center, had at least 5 years of follow-up and were included. Their initial features were: duration of C-peptide negative diabetes: 28±9years; age: 43±7years; BMI: 24±0.2 kg/m2; 8/21 kidney-transplant...