86,893 research outputs found
Effects of aerobic exercise training in children after the Fontan operation
Get PDFAm J Cardiol. 2005 Jan 1;95(1):150-2.
Effects of aerobic exercise training in children after the Fontan operation.
Opocher F, Varnier M, Sanders SP, Tosoni A, Zaccaria M, Stellin G, Milanesi O.
Source
Department of Pediatrics, Medical and Surgical Sciences, University of Padova, School of Medicine, Padova, Italy.
Abstract
It was demonstrated that patients who have undergone the Fontan operation can safely undertake exercise training and that this results in an improvement in aerobic capacity. These findings suggest that aerobic training could be useful in the long-term management of these patients to optimize their cardiovascular fitness for more active lives.
PMID:
15619417
[PubMed - indexed for MEDLINE
Genetics of pheochromocytomas and paragangliomas.
No full textPheochromocytoma and paraganglioma are tumors of the sympathetic or parasympathetic paraganglia. Pheochromocytoma is the tumor of the main sympathetic paraganglia, which is the adrenal medulla. The sympathetic paraganglioma secretes catecholamine while the parasympathetic do not. Both of them originate from neural crest cells and share similar mechanisms of tumor development. The same genetic alteration may predispose to the development of sympathetic and parasympathetic paraganglioma. The best known hereditary forms of pheochromocytoma and paraganglioma are the von Hippel-Lindau disease, in which pheochromocytoma may be associated with CNS hemangioblastoma, retinal angioma, pancreatic endocrine tumor/cysts and renal clear cell carcinoma/cysts; the multiple endocrine neoplasia type 2, in which pheochromocytoma is associated with medullary thyroid carcinoma and primary hyperparathyroidism, Type 1 neurofibromatosis, the most frequent hereditary cancer syndrome. Finally, it has been characterized the paraganglioma syndrome in which sympathetic and parasympathetic paraganglioma are variously associated. The list of predisposing gene is quite long and comprises VHL, RET, NF1, SDHB, SDHC, SDHD, SDHAF2. More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2. A mechanism conducing to a defective apoptosis is the common pathways of those genes. Finally, there is also good evidence of the role of other genes, not yet completely identified
Functional consequences of succinate dehydrogenase mutations.
No full textTo explore the genotype-phenotype correlation among the different forms of hereditary paraganglioma.
METHODS:
We reviewed the pertinent literature on hereditary paragangliomas, which showed the established classification of types 1, 2, 3, and 4 paraganglioma syndrome (PGL1, PGL2, PGL3, and PGL4, respectively). Germline mutations of succinate dehydrogenase confer susceptibilities as follows: SDHD confers susceptibility to PGL1 syndrome, SDHAF2 to PGL2 syndrome, SDHC to PGL3 syndrome, and SDHB to PGL4 syndrome. Recently, SDHA mutations have been identified in patients with parasympathetic paraganglioma. The 4 paraganglioma syndromes differ in terms of risk of malignancy, secretory activity, and tumor location.
RESULTS:
Little information is available on the biochemical and functional modifications induced by gene mutations in these tumors. Recent studies provide in vitro and in vivo evidence that succinate, fumarate, or both, which accumulate as a result of succinate dehydrogenase inhibition, lead to the stabilization and activation of hypoxia-inducible factor-1α, which in turn activates cell proliferation and angiogenesis.
CONCLUSION:
Paraganglia tumors (gross phenotype) are attributable to impairment of the mitochondrial complex II, type of gene mutated, type and position of the mutation, and type of second hit (other genes?) and are the determinants of the clinical phenotype. The relationship among various mutations, a different activity of the mitochondrial complex II, and the clinical phenotype are far from being established
Hypertensive Congenital Adrenal Enzymatic Defects Detected By High-performance Liquid-chromatography of Corticosteroids
No full textThe simultaneous measurement of the adrenal deoxycorticosterone (DOC), 18-OH-DOC, corticosterone (B), 18-OH-B, 11-deoxycortisol (S) and cortisol (F) present in human plasma in cases of adrenal dysfunction was accomplished using a high-performance liquid chromatographic (HPLC) system with a UV detector and with a radioimmunoassay (RIA). After a solid-phase extraction, plasma samples were separated by HPLC using a gradient of water-acetonitrile-ethanol on a radial compressed reversed-phase column. In a 70-min cycle, a complete separation of adrenal steroids was accomplished. The UV detector allowed direct measurement of F in each plasma sample while in selected cases B and S were directly determined. It was therefore possible quickly to identify patients with hypertensive congenital adrenal enzymatic defects with this method: the 17-alpha-hydroxylase deficiency characterized by the absence of measurable levels of F with an evident peak corresponding to B and the 11-beta-hydroxylase deficiency in which high levels of S without F are detected. The RIA of DOC, B, 18-OH-DOC and 18-OH-B complete the characterization of the adrenal defect. Therefore, with this HPLC method it is possible to recognize the major hypertensive adrenal enzymatic deficiencies such as the defect of 17-alpha-hydroxylase or 11-beta-hydroxylase. With "RIA" detectors an almost complete spectrum of adrenal steroid secretion can be obtained
An unusual cause of pneumonia in a child. Eur. Respir. J. 2005; 26 (49): 630s.
No full textA case of rare pneumonia in children is described by the author
[Should selective shunt procedures still be used in the treatment of portal hypertension?]
No full text- …
