The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

BACKGROUND: The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM. METHODS: Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece. Over a period of 3 years, 125 patients, who fulfilled the inclusion criteria of this study, were examined. Analytical physical examination, detailed laboratory investigation as well as a thorough ocular examination were made. RESULTS: A diagnosis of IEM was established in 23 of the 125 patients (18.4%). Ten (43.5%) of the diagnosed IEM had ocular findings, while 8 of them (34.8%) had findings which were specific for the diagnosed diseases. One patient diagnosed with glycogenosis type 1b presented a rare finding. Of the 102 non-diagnosed patients, 53 (51.96 %) presented various ophthalmic findings, some of which could be related to a metabolic disease and therefore may be very helpful in the future. CONCLUSIONS: The ocular investigation can be extremely useful for raising the suspicion and the establishment of an early diagnosis of IEM. It could also add new findings related to these diseases. The early management of the ocular symptoms can improve the quality of life to these patients

Synergistic inhibition of prostate cancer cell lines by a 19- nor hexafluoride vitamin D3 analogue and anti-activator protein 1 retinoid

The secosteroid hormones, all- trans- and 9- cis -retinoic acid and vitamin D3, have demonstrated significant capacity to control proliferation in itro of many solid tumour cell lines. Cooperative synergistic effects by these two ligands have been reported, and it is, therefore, possible that greater therapeutic effects could be achieved if these compounds were administered together. The role of retinoid-dependent anti-activator protein 1 (anti-AP-1) effects in controlling cancer cell proliferation appears significant. We have utilized an anti- AP-1 retinoid [2-(4,4-dimethyl-3,4-dihydro-2H-1 benzopyran-6-yl)carbonyl-2-(4-carboxyphenyl)-1,3,-dithiane; SR11238], which does not transactivate through a retinoic acid response element (RARE), and a potent vitamin D3analogue [1α,25(OH)2-16-ene-23-yne-26,27-F6-19-nor -D3, code name LH] together at low, physiologically safer doses against a panel of prostate cancer cell lines that represent progressively more transformed phenotypes. The LNCaP (least transformed) and PC-3 (intermediately transformed) cell lines were synergistically inhibited in their clonal growth by the combination of LH and SR11238, whereas SR11238 alone was essentially inactive. DU-145 cells (most transformed) were completely insensitive to these analogues. LNCaP cells, but neither PC-3 nor DU-145, underwent apoptosis in the presence of LH and SR11238. Transactivation of the human osteocalcin vitamin D response element (VDRE) by LH was not enhanced in the presence of SR11238, although the expression of E-cadherin in these cells was additively up-regulated in the presence of both compounds. These data suggest the anti-AP-1 retinoid and the vitamin D3 analogue may naturally act synergistically to control cell proliferation, a process that is interrupted during transformation, and that this combination may form the basis for treatment of some androgen-independent prostate cancer. © 1999 Cancer Research Campaig

A rapid and sensitive ELISA for rainbow trout maturational gonadotropin (rGtHII) : validation on biological samples, in vivo and in vitro responses to GnRH

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Dynamic characteristics of serotonin and dopamine metabolism in the rainbow trout brain : a regional study using liquid chromatography with electrochemical detection

International audienceAminergic metabolism was studied in discrete brain regions of the postovulated female rainbow trout using a liquid chromatography electrochemical detection method. 3 Methoxytyramine (3MT) was the major dopaminergic catabolite, suggesting that catechol-o-methyl transferase is the main dopamine (DA) catabolic enzyme. Two populations of brain regions were found: one with a high DA content and low 3MT/DA ratio (hypothalamus and telencephalon), suggesting that these regions could present a high density of DA perikarya; the other with a high 3MT/DA ratio (pituitary, preoptic area, myelencephalon and optic tectum) suggesting that these regions could present a high density of DA axonal endings. 5 Hydroxytryptamine (5HT) content differed, but an homogeneous distribution of monoamine oxidase was found in different brain regions. High 5HT content was found in the hypothalamus and telencephalon; 5HT was however not detectable in the pituitary

Eukaryotic conditional expression system

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A new perfusion method adapted to rainbow trout (Salmo gairdneri) brain pituitary preparation for simultaneous electrophysiological recording and hormone secretion determination

International audience1. The development of an in vitro brain-pituitary perfusion technique allowed both the measurement of gonadotropin release and the recording of electrical activity in various brain areas of the rainbow trout. 2. GnRH sensitive neurons were found in the nucleus preopticus (NPO). 3. Gonadotropin release was evoked after microinjections of LHRH-A into the pituitary or into the NPO. 4. Norepinephrine has been demonstrated to have a stimulatory effect on gonadotropin release