نتایج جستجو برای: polyendocrinopathies

تعداد نتایج: 106  

2015
Ellia Mezgueldi Aurélia Bertholet-Thomas Solange Milazzo Michael Morris Justine Bacchetta Nicole Fabien Pierre Cochat Anthony P Weetman Elizabeth Helen Kemp Alexandre Belot

Early diagnosis of potentially life-threatening autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is crucial, but is often delayed due to the clinical heterogeneity of the disorder. Even in the absence of the classic disease triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency, a diagnosis of APECED should be considered in childr...

Journal: :South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2007
A R Rabson

Chronic mucocutaneous candidiasis (CMC) refers to a group of disorders which have in common recurrent and persistent infections of the skin, nails and mucous membranes by Candida albicans and occasionally other candida species. A proportion of these patients show an associated endocrinopathy as part of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome. Many ca...

Journal: :British journal of industrial medicine 1952
H E HARDING T A L DAVIES

A preliminary report on the toxicology of zircon (Harding, 1948) gave some details of the properties and uses of this substance and suggested that it was extremely inert within the animal body. At the time of the publication of this preliminary report an experiment was almost completed during which rats were exposed to afairly high concentration (725,000 particles per cc. of air) of zircon dust...

2012
Massimiliano Gaetani Vittoria Matafora Mario Saare Dimitrios Spiliotopoulos Luca Mollica Giacomo Quilici Francesca Chignola Valeria Mannella Chiara Zucchelli Pärt Peterson Angela Bachi Giovanna Musco

Mutations in autoimmune regulator (AIRE) gene cause autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. AIRE is expressed in thymic medullary epithelial cells, where it promotes the expression of peripheral-tissue antigens to mediate deletional tolerance, thereby preventing self-reactivity. AIRE contains two plant homeodomains (PHDs) which are sites of pathological mutations. AIRE-P...

Journal: :BMJ quality & safety 2011
Edward A Dauer

Almost no one is happy with malpractice liability, the traditional AngloeAmerican system for dealing with complaints about medical injury. To its more trenchant critics it is inefficient, ineffective, inaccurate and, what matters most, it is structurally inconsistent with the fundaments of quality improvement and future patient safety. It is, in all, something only a trial lawyer could love. 3 ...

Journal: :Thorax 1996
D Kyroussis G H Mills M I Polkey C H Hamnegard S Wragg J Road M Green J Moxham

BACKGROUND When the demand placed on the respiratory system is increased, the abdominal muscles become vigorously active to achieve expiration and facilitate subsequent inspiration. Abdominal muscle function could limit ventilatory capacity and a method to detect abdominal muscle fatigue would be of value. The maximum relaxation rate (MRR) of skeletal muscle has been used as an early index of t...

Journal: :Science 1944
F D Murnaghan

On the Teaching of Mathematics: DR. F. D. MuRRUDNEY. The Antibacterial Action of Penicillin NAGHAN . ...479 Algaoit Gram Negative Organmsms: DR. GLADYS L. Cultural Interchange Between the Soviet Union and HOBBY. Relation of Dosage to Survival Time of the United States: PROFESSOR STUART MUDD. 486 Arsenite-Injected Roaches: DR. J. FRANKLIN YEAObituary: GER and SAM C. MUNSON. The Motion of Small F...

2008
J. Lloyd-Hughes T. Richards H. Sirringhaus M. B. Johnston L. M. Herz

J. Lloyd-Hughes,1,* T. Richards,2 H. Sirringhaus,2 M. B. Johnston,1 and L. M. Herz1,† 1Claredon Laboratory, Department of Physics, University of Oxford, Parks Road, Oxford OX1 3PU, United Kingdom 2Cavendish Laboratory, Department of Physics, University of Cambridge, Madingley Road, Cambridge CB3 0HE, United Kingdom Received 9 October 2007; revised manuscript received 26 January 2008; published ...

Journal: :EMBO Reports 2008
Tõnis Org Francesca Chignola Csaba Hetényi Massimiliano Gaetani Ana Rebane Ingrid Liiv Uko Maran Luca Mollica Matthew J Bottomley Giovanna Musco Pärt Peterson

Mutations in the gene autoimmune regulator (AIRE) cause autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. AIRE is expressed in thymic medullary epithelial cells, where it promotes the expression of tissue-restricted antigens. By the combined use of biochemical and biophysical methods, we show that AIRE selectively interacts with histone H3 through its first plant homeodomain (PHD)...

Journal: :The Israel Medical Association journal : IMAJ 2008
Jonathan Buber Shira Goldenberg Ana Eyal Meir Mouallem Zvi Farfel

• Vol 10 • December 2008 Massive Brain Calcifications in APECED Brain calcifications are not rare in hypoparathyroidism or pseudohypoparathyroidism. Massive brain calcifications were found in brain computed tomography scans performed after an episode of pre-syncope in an Iranian Jewish woman known to have hypoparathyroidism and hypothyroidism. We present the case and briefly discuss recent prog...

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