Download PDF by I.A. Hughes, A.J.L. Clark, P.-E. Mullis: Adrenal disease in childhood: clinical and molecular aspects

By I.A. Hughes, A.J.L. Clark, P.-E. Mullis

ISBN-10: 3805570155

ISBN-13: 9783805570152

Adrenal disorder in young ones poses an immensely tough diagnostic and administration challenge for the paediatrician in view of the massive variety of infrequent pathologies that could found in this manner. This quantity brings jointly the services of the stated leaders in particular adrenal problems to supply a without difficulty obtainable textual content that mixes an in depth description of the molecular origins of those illnesses, as they're at the moment understood, with a special account of the scientific good points and healing innovations. starting with problems that basically have an effect on adrenal improvement and progressing in the direction of the defects that intervene with steroid construction, the reader earnings significant perception into the conventional body structure of the adrenal cortex fairly as published via medical problems. the key contributions of contemporary biochemistry and molecular genetics in our present knowing are seen all through, delivering a different evaluation of adrenocortical biology.

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Adrenal affliction in childrens poses an immensely tricky diagnostic and administration challenge for the paediatrician in view of the massive variety of infrequent pathologies that can found in this fashion. This quantity brings jointly the services of the stated leaders in particular adrenal problems to supply a with ease obtainable textual content that mixes a close description of the molecular origins of those illnesses, as they're at the moment understood, with a distinct account of the medical positive factors and healing techniques.

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The exact actions resulting from these immediate intracellular signalling events are not well understood. Activation of PKA will result in phosphorylation of a number of target proteins, including the cAMP response element binding protein (CREB). These phosphorylation events are probably responsible, either directly or indirectly, for alteration in the level of expression of several genes including the steroidogenic enzymes CYP11A, 17, 21, 11B1 and the StAR protein [11]. Others have demonstrated stimulation of expression of several of the immediate early response genes [12, 13], as well as less rapid induction of ACTH-R, MC5-R [14, 15], HDL and LDL receptor genes [16].

29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 Hammer GD, Ingraham HA: Steroidogenic factor-1: Its role in endocrine organ development and differentiation. Front Neuroendocrinol 1999;20:199–223. Hanley NA, Ball SG, Clement-Jones M, Hagan DM, Strachan T, Lindsey S, Robson S, Ostrer H, Parker KL, Wilson DI: Expression of steroidogenic factor 1 and Wilms’ tumour 1 during early human gonadal development and sex determination. Mech Dev 1999;87:175–180. Ramayya MS, Zhou J, Kino T, Segars JH, Bondy CA, Chrousos GP: Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridisation studies.

These pathways are summarised in figure 1. Recent work also implicates an additional very rapid role of ACTH in inhibiting guanyl cyclase which in turn inhibits phosphodiesterase type 2 in adrenal glomerulosa cells. This leads to a transient increase in cAMP. As cAMP accumulates, however, this will stimulate this phosphodiesterase which then counteracts the cAMP-generating action of adenylate cyclase [10]. The exact actions resulting from these immediate intracellular signalling events are not well understood.

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Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2) by I.A. Hughes, A.J.L. Clark, P.-E. Mullis


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