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Biomedical subjects

E Anda

Publications and source records attributed to E Anda.

18 recordsLinked to original sources
PubMed2006

The malignant potential of a succinate dehydrogenase subunit B germline mutation.

Familial catecholamine secreting tumors have been associated with multiple endocrine neoplasia type 2, Von Hippel-Lindau disease and neurofibromatosis type 1. In the last years, mutations of genes encoding subunits B, C and D of the succinate dehydrogenase have been discovered as other causes of pheochromocytomas and paragangliomas. We diagnosed a malignant retroperitoneal paraganglioma in a 64-yr-old man with bone metastasis in 2001. Two years later a retroperitoneal benign paraganglioma was found and resected in his 32-yr-old daughter. Thus we diagnosed in this family a paraganglioma syndrome. We performed molecular genetic analyses of the genes SDHB, SDHC, and SDHD. We detected in the SDHB gene the mutation SDHB c. 558-3 C> G affecting the splice site of exon 5. In a second daughter the mutation was also detected, thorough clinical investigation revealed normal results. We conclude that the SDHB mutation predisposes to abdominal extra-adrenal and potential malignant pheochromocytoma with incomplete penetrance.

Adult↗
PubMed1996

[Primary suprarenal insufficiency and multiglandular atrophy in a patient affected by myotonic dystrophy].

We present the case of a 27 year old man diagnosed as having myotonic dystrophy (MD) who showed two novelties with respect to those endocrinopathies hitherto described as being associated with MD: primary suprarenal failure and pluriglandular atrophy (thyroid and suprarenal, in addition to the already known testicular type). We describe here the results of a clonic, hormonal and genetic study of the proband and his family (a carrier father and an affected brother). We discuss the possible etiopathogenesis of the picture which, in our opinion, could consist of an abnormality of the AMPc dependent protein-kinase, related to the MD gene (PKMD). Consequently intracellular signaling was altered after the union of peptide hormones (in our case ACTH, LH and TSH) to their receptor leading, through the lack of trophic stimulus, to glandular atrophy. We conclude that before diagnosing MD, it is convenient to add suprarenal study to the traditional evaluations of possible associated endocrinopathies.

Adrenocorticotropic Hormone↗
PubMed1978

The role of estrogens in the regulation of lactate dehydrogenase activity and its submolecular organization in rat anterior pituitary.

Estrogens increase LDH activity and decrease H/M subunit ratio in rat anterior pituitary in both the experimental circumstances and the physiological conditions. The cellular messengers mediating estrogenic effect are structure- and stereospecific. The activity increasing and subunit ratio decreasing potency of the three tested estrogens was of following decreasing order: 17 beta-estradiol, estrone, and estriol. 17 alpha-estradiol did not affect activity parameters and submolecular organisation of the enzyme. The estrogen induced activity increase is consequence of the enhanced de novo enzyme protein synthesis which could be inhibited by Actinomycin-D. The lack of adrenocorticoids did not involve the alteration of LDH activity and H/M ratio in female rat anterior pituitary. Accordingly, these steroids do not mediate estrogenic action. 17 beta-estradiol had a substantial increasing effect on LDH activity in the subrenal implanted pituitary homografts and decreased H/M subunit ratio. Pituitary LDH activity in androgenized female rats decreased only after the removal of the polycystic ovaries. The two latter observations suggest that hypothalamic hormones are not involved in the regulation of pituitary LDH activity and its submolecular organization. De novo synthesis of LDH enzyme protein and the regulation its submolecular organization is induced by the direct action on anterior pituitary cells of the estrogens.

Adrenalectomy↗
PubMed1976

Correlation between sexual steroid effect and activity changes and isoenzyme distribution of lactate dehydrogenase (EC 1.1.1.27) in rat anterior pituitary.

Sexual steroid feed-back is a fundamental regulating factor oification of pituitary metabolism in rat. Oestrogen synthesis and/or activity of M subunif testosterone, in males testosterone treatment as well as lack of oestrogen result in characteristic pituitary LDH activity and isoenzyme distribution. Physiological doses of sexual steroids affect, directly or indirectly, pituitary LDH activity, oxydative metabolism, and imply different biochemical bases for the polypeptide hormone production in the anterior pituitary gland.

Animals↗
PubMed1976

Sexual difference in pituitary pyruvic acid content, as well as of lactic acid/pyruvic acid quotient.

The lactic acid/pyruvic acid quotient of rat anterior pituitary varies betweeen 30 and 80. The dominance of lactic acid is in accordance with the earlier observation that pituitary lactate dehydrogenase isoenzymes in rat are made up, in majority, of M subunits. The pituitary lactic acid concentration in female and male animals shows no appreciable difference and does not change 2 and 4 weeks after castration. In males the pituitary pyruvic acid concentration was almost double of that in females. Pyruvic acid content increases after ovariectomy and decreases after orchidectomy. The sexual differences having been observed in lactic acid/pyruvic acid quotient are in correlation with the discrepancy of pyruvic acid concentration.

Animals↗
PubMed1975

The effect of alpha-melanophor-stimulating hormone on liver regeneration and incorporation of amino acid in rats' liver protein.

Following 25 mug/day synthetic alpha-MSH administration, the liver regeneration of partially hepatectomized rats proved to be increased. The hormone treatment resulted in an enhanced alanine incorporation of the liver proteins, but this effect was uncertain on partially hepatectomized rats. Due to the hormone treatment the low liver protein content of the operated rats became normal. The pseudocholinesterase activity of the liver homogenate of alpha-MSH treated rats was also elevated. On the basis of these experiments authors are supposing some protein synthesis increasing effect of synthetic alpha-MSH.

Alanine↗
PubMedDate not supplied

[Administering toxins with antithyroids. Does this prevent recidivism of Graves disease? ].

There are three possibilities in the treatment of Graves-Basedow disease: antithyroids drugs, sub-total thyroidectomy and I131. In the USA there is a clear preference for definitive therapy with I131 once the thyrotoxicosis has been controlled. In Europe and Japan, however, the preference is for trying a conservative treatment, in the hope of inducing a permanent remission without recourse to radical methods. The most usual conservative pattern involves starting with high doses of antithyroids which are progressively reduced over the course of one year. The high rate of recurrence obtained with this method has fired the imagination of the endocrinologists in the search for other patterns that would provide more satisfactory results. One of these alternative patterns consists of combining thyroxine with antithyroids drugs. In this paper the characteristics of this combined pattern are reviewed. Following the justification, the clinical and experimental foundations on which it is based are outlined. Thirdly, details are given of clinical experiences taken from the medical literature and, finally, our own clinical experience is described after a five years follow up. It is concluded that: 1. The combined treatment delays the appearance of recurrence but does not reduce its frequency. 2. The addition of thyroxine alone following a course of combined treatment is not justified and 3. Prospective studies are needed in which hyperthyroid patients are grouped according to the variables that can affect recurrence.

English Abstract↗
PubMedDate not supplied

[Paraneoplastic hormonal syndromes].

We can define paraneoplastic syndromes as a combination of effects occurring far from the original location of the tumour and independently from the local repercussion of its metastases. Paraneoplastic hormonal syndromes depend on the secretion of hormonal peptides or their precursors, cytokines and, more rarely, thyroidal hormones and Vitamin D, which act in an endocrine, paracrine or autocrine way. Sometimes, paraneoplastic syndromes can be more serious than the consequences of the primary tumour itself and can precede, develop in parallel, or follow the manifestations of this tumour. It is important to recognise a paraneoplastic hormonal syndrome for several reasons, amongst which we would draw attention to three: 1) It can lead to the diagnosis of a previously undetected, underlying malign or benign neoplasia; 2) It can dominate the clinical picture and thus lead to errors with respect to the origin and type of primary tumour; and 3) It can follow the clinical course of the underlying tumour and thus be useful for monitoring its evolution. The molecular mechanisms responsible for the development of these syndromes are not well-known, but it is believed that they might be inherent to the mutations responsible for the primary tumour or depend on epigenetic factors such as methylation. In this review, we consider the following paraneoplastic hormonal syndromes: malign hypercalcaemia, hyponatraemia (inappropiate secretion of the antidiuretic hormone), ectopic Cushing's syndrome, ectopic acromegaly, hypoglycaemia due to tumours different from those of the islet cells and paraneoplastic gynaecomastia; we make a brief final reference to other hormones (calcitonin, somatostatin, and VIP).

ACTH Syndrome, Ectopic↗