7 research outputs found
Nomenclatural and taxonomic review of Passifloraceae species illustrated and described by Vellozo in Flora Fluminensis
46,xx Dsd And Antley-bixler Syndrome Due To Novel Mutations In The Cytochrome P450 Oxidoreductase Gene [dds 46,xx E Síndrome De Antley-bixler Causada Por Novas Mutações No Gene Da Enzima P450 Oxidorredutase]
Deficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. © ABEM todos os direitos reservados.568578585Miller, W.L., Minireview: Regulation of steroidogenesis by electron transfer (2005) Endocrinology, 146, pp. 2544-2550Scott, R.R., Gomes, L.G., Huang, N., Van Vliet, G., Miller, W.L., Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency (2007) J Clin Endocrinol Metab, 92, pp. 2318-2322Auchus, R.J., Lee, T.C., Miller, W.L., Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer (1998) J Biol Chem, 273, pp. 3158-3165Flück, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge, C.F., Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004) Nat Genet, 36, pp. 228-230Arlt, W., Walker, E.A., Draper, N., Ivison, H.E., Ride, J.P., Hammer, F., Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: Analytical study (2004) Lancet, 363, pp. 2128-2135Scott, R.R., Miller, W.L., Genetic and clinical features of P450 oxidoreductase deficiency (2008) Horm Res, 69, pp. 266-275Polusani, S.R., Kar, R., Riquelme, M.A., Masters, B.S., Panda, S.P., Regulation of gap junction function and connexin 43 expression by cytochrome P450 oxidoreductase (CYPOR) (2011) Biochem Biophys Res Commun, 411, pp. 490-495Tomalik-Scharte, D., Maiter, D., Kirchheiner, J., Ivison, H.E., Fuhr, U., Arlt, W., Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2010) Eur J Endocrinol, 163, pp. 919-924(2012) Human Gene Mutation Database, , http://www.hgmd.cf.ac.uk/ac/index.php, Available at, Accessed on: Nov 17Flück, C.E., Pandey, A.V., Clinical and biochemical consequences of P450 oxidoreductase deficiency (2011) Endocr Dev, 20, pp. 63-79Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H.E., Hughes, B.A., Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2012) J Clin Endocrinol Metab, 97, pp. E257-E267Sambrook, J., Fristsch, E.F., Maniatis, T.E., (1989) Molecular Cloning: A laboratory manual, , Cold Spring Harbor, NY: Cold Spring Harbor Laboratory PressXia, C., Panda, S.P., Marohnic, C.C., Martásek, P., Masters, B.S., Kim, J.J., Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency (2011) Proc Natl Acad Sci U S A, 108, pp. 13486-13491Idkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E.M., Collins, F., Kerstens, M.N., Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2011) J Clin Endocrinol Metab, 96 (3), pp. E453-E462Hamdane, D., Xia, C., Im, S.C., Zhang, H., Kim, J.J., Waskell, L., Structure and function of an NADPH-cytochrome P450 oxidoreductase in an open conformation capable of reducing cytochrome P450 (2009) J Biol Chem, 284 (17), pp. 11374-11384Xia, C., Hamdane, D., Shen, A.L., Choi, V., Kasper, C.B., Pearl, N.M., Conformational changes of NADPH-cytochrome P450 oxidoreductase are essential for catalysis and cofactor binding (2011) J Biol Chem, 286, pp. 16246-16260Herkert, J.C., Blaauwwiekel, E.E., Hoek, A., Veenstra-Knol, H.E., Kema, I.P., Arlt, W., A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency (2011) Neth J Med, 69, pp. 281-283Fukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K., Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis (2006) Pediatr Res, 59, pp. 276-280Flück, C.E., Miller, W.L., P450 oxidoreductase deficiency: A new form of congenital adrenal hyperplasia (2006) Curr Opin Pediatr, 18, pp. 435-441Homma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: Implication for the backdoor pathway to dihydrotestosterone (2006) J Clin Endocrinol Metab, 91, pp. 2643-2649But, W.M., Lo, I.F., Shek, C.C., Tse, W.Y., Lam, S.T., Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency (2010) Hong Kong Med J, 16, pp. 59-62Iijima, S., Ohishi, A., Ohzeki, T., Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: Steroidogenic capacities (2009) J Pediatr Endocrinol Metab, 22, pp. 469-475Ko, J.M., Cheon, C.K., Kim, G.H., Yoo, H.W., A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene (2009) Eur J Pediatr, 168, pp. 877-880Sahakitrungruang, T., Huang, N., Tee, M.K., Agrawal, V., Russell, W.E., Crock, P., Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients (2009) J Clin Endocrinol Metab, 94, pp. 4992-5000Adachi, M., Tachibana, K., Asakura, Y., Yamamoto, T., Hanaki, K., Oka, A., Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome (2004) Am J Med Genet A, 128, pp. 333-339New, M.I., Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome (1993) Ann NY Acad Sci, 687, pp. 193-205Rosa, S., Duff, C., Meyer, M., Lang-Muritano, M., Balercia, G., Boscaro, M., P450c17 deficiency: Clinical and molecular characterization of six patients (2007) J Clin Endocrinol Metab, 92, pp. 1000-1007Shima, M., Tanae, A., Miki, K., Katsumata, N., Matsumoto, S., Nakajima, S., Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia (2000) Eur J Endocrinol, 142, pp. 274-279Belgorosky, A., Pepe, C., Marino, R., Guercio, G., Saraco, N., Vaiani, E., 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Caracterização de rejeito de mineração de ouro para avaliação de solubilização de metais pesados e arsênio e revegetação local
Estrutura de estádios ontogenéticos em população nativa da palmeira Syagrus romanzoffiana (Cham.) Glassman (Arecaceae) Structure of ontogenetic stages in a native population of the palm Syagrus romanzoffiana (Cham.) Glassman (Arecaceae)
O jerivá tem importância ecológica e econômica, inclusive palmito de qualidade. Para conhecer características básicas do ciclo de vida desta espécie, estudou-se a população na floresta paludícola da Reserva Santa Genebra (Campinas, SP). Observações e medições foram feitas em 100 parcelas (5×5 m) e sub-parcelas (2×2 m) aleatórias, dentro de uma área de 1 ha, realizadas novamente após 400 ± 3 dias. Foram reconhecidos seis estádios ontogenéticos, distinguíveis no campo: plântula (folha inteira estreita), juvenil fase 1 (folha inteira, largura > 2 cm), juvenil fase 2 (folha segmentada), imaturo (folha segmentada e estipe aéreo), virgem (estipe aéreo e raízes caulígenas) e reprodutor (raízes caulígenas e presença periódica de estruturas reprodutivas). Para o reconhecimento das plântulas usaram-se características foliares, pois o momento da independência trófica não pôde ser determinado no campo, tendo, o estádio, longa existência sob a baixa luminosidade do sub-bosque. Ocorreu sobreposição de tamanhos e na produção de folhas, embora houvesse diferenças significativas, pelo menos entre alguns estádios. As estruturas e propriedades adquiridas ou perdidas em cada estádio representariam vantagens adaptativas sob circunstâncias diferentes durante a ontogenia do jerivá, como a germinação remota, que pode ajudar a explicar a ampla ocorrência da espécie, incluindo áreas mais secas, e raízes caulígenas, por melhorar a fixação e nutrição previamente à reprodução, na floresta paludícola.<br>Syagrus romanzoffiana is ecologically and economically important, including the production of good-quality hearts of palm. Aiming to describe this plant's basic life cycle, we studied a natural population in the swamp forest at the Santa Genebra Reserve, Campinas municipality, São Paulo state. Observations and measurements were made, and repeated after 400 ± 3 days, in 100 randomly located plots (5×5 m) and sub-plots (2×2 m), in an area of 1 ha. Six ontogenetic stages were recognized: seedling (narrow entire leaf), juvenile phase 1 (entire leaf, width > 2 cm), juvenile phase 2 (segmented leaf), immature (segmented leaf, aerial stem), virgin (aerial stem, cauligenous roots), and reproductive (cauligenous roots and periodic presence of reproductive structures). Since the moment of trophic independence could not be determined in the field, leaf characteristics were used to identify seedlings. Seedlings live for a long time in the low light of the understory. Even though significant differences could be observed, size and leaf production overlapped among different stages. Remote germination, used to explain the widespread occurrence of the species even in dry regions, and cauligenous roots that improve fixation and nutrition previous to reproduction in swamp forests, are morphological structures and properties acquired or lost in each stage that may represent adaptive advantages under different circumstances during ontogeny of S. romanzoffiana