Hormona anti-mulleriana: marcador da reserva ovárica

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

The Amherst papyri;

Pt.2 cite as: P.Amh. II

Sox8 is expressed at similar levels in gonads of both sexes during the sex determining period in turtles

A critical gene involved in mammalian sex determination and differentiation is the Sty-related gene Sox9. In reptiles, Sox9 resembles that of mammals in both structure and expression pattern in the developing gonad, but a causal role in male sex determination has not been established. A closely related gene, Sox8, is conserved in human, mouse, and trout and is expressed in developing testes and not developing ovaries in mouse. In this study, we tested the possibility of Sox8 being important for sex determination or sex differentiation in the red-eared slider turtle Trachemys scripta, in which sex is determined by egg incubation temperature between stages 15 and 20. We cloned partial turtle Sox8 and anti-Mullerian hormone (Amh) cDNAs, and analyzed the expression patterns of these genes in developing gonads by reverse transcriptase-polymerase chain reaction and whole-mount in situ hybridization. While Amh is expressed more strongly in males than in females at stage 17, Sox8 is expressed at similar levels in males and females throughout the sex-determining period. These observations suggest that differential transcription of Sill is not responsible for regulation of Amh, nor responsible for sex determination in turtle. (C) 2004 Wiley-Liss, Inc.

Origin and possible roles of the Sox8 transcription factor gene during sexual development

Sox8 is a member of the Sox family of developmental transcription factor genes and is closely related to Sox9, a critical gene involved in mammalian sex determination and differentiation. Both genes encode proteins with the ability to bind similar DNA target sequences, and to activate transcription in in vitro assays. Expression studies indicate that the two genes have largely overlapping patterns of activity during mammalian embryonic development. A knockout of Sox8 in mice has no obvious developmental phenotype, suggesting that the two genes are able to act redundantly in a variety of developmental contexts. In particular, both genes are expressed in the developing Sertoli cell lineage of the developing testes in mice, and both proteins are able to activate transcription of the gene encoding anti-Mullerian hormone (AMH), through synergistic action with steroidogenic factor I (SF1). We have hypothesized that Sox8 may substitute for Sox9 in species where Sox9 is expressed too late to be involved in sex determination or regulation of Amh expression. However, our studies involving the red-eared slider turtle indicate that Sox8 is expressed at similar levels in males and females throughout the sex-determining period, suggesting that Sox8 is neither a transcriptional regulator for Amh, nor responsible for sex determination or gonad differentiation in that species. Similarly, Sox8 is not expressed in a sexually dimorphic pattern during gonadogenesis in the chicken. Since a functional role(s) for Sox8 is implied by its conservation during evolution, the significance of Sox8 for sexual and other aspects of development will need to be uncovered through more directed lines of experimentation. Copyright (C) 2003 S. Karger AG, Basel.

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups

Background The etiology of most premature ovarian failure (POF) cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF. Methods Mutation screening of NR5A1 gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated in vitro. Results A novel heterozygous missense mutation [c.13T>G (p.Tyr5Asp)] in NR5A1 was identified in 1 of 384 patients (0.26%). This mutation impaired transcriptional activation on Amh, Inhibin-a, Cyp11a1and Cyp19a1 gene, as shown by transactivation assays. However, no dominant negative effect was observed, nor was there impact on protein expression and nuclear localization. Conclusions This novel mutation p.Tyr5Asp, in a novel non-domain region, is presumed to result in haploinsufficiency. Irrespectively, perturbation in NR5A1 is not a common explanation for POF in Chinese.

The effect of multimedia instruction on achievement of college history students

The purpose of this study was to investigate the effect of multimedia instruction on achievement of college students in AMH 2010 from exploration and discovery to1865. A non-equivalent control group design was used. The dependent variable was achievement. The independent variables were learning styles method of instruction, and visual clarifiers (notes). The study was conducted using two history sections from Palm Beach Community College, in Boca Raton, Florida, between August and December, 1998. Data were obtained by means of placement scores, posttests, the Productivity Environmental Preference Survey (PEPS), and a researcher-developed student survey. Statistical analysis of the data was done using SPSS statistical software. Demographic variables were compared using Chi square. T tests were run on the posttests to determine the equality of variances. The posttest scores of the groups were compared using the analysis of covariance (ANCOVA) at the .05 level of significance. The first hypothesis there is a significant difference in students' learning of U.S. History when students receive multimedia instruction was supported, F = (1, 52)= 688, p < .0005, and F = (1, 53) = 8.52, p < .005for Tests 2 and 3, respectively. The second hypothesis there is a significant difference on the effectiveness of multimedia instruction based on students' various learning preferences was not supported. The last hypotheses there is a significant difference on students' learning of U.S. History when students whose first language is other than English and students who need remediation receive visual clarifiers were not supported. Analysis of covariance (ANCOVA) indicated no difference between the groups on Test 1, Test 2, or Test 3: F (1, 4 5)= .01, p < .940, F (l, 52) = .77, p < .385, and F (1,53) =.17, p > .678, respectively, for language. Analysis of covariance (ANCOVA) indicated no significant difference on Test 1, Test 2, or Test 3, between the groups on the variable remediation: F (1, 45) = .31, p < .580, F (1, 52) = 1.44, p < .236, and F (1, 53) = .21, p < .645, respectively.

Redefinición de las TIC en el museo: del discurso invasivo al inclusivo

Las TIC son inseparables de la museografía in situ e imprescindibles en la museografía en red fija y móvil. En demasiados casos se han instalado prótesis tecnológicas para barnizar de modernidad el espacio cultural, olvidando que la tecnología debe estar al servicio de los contenidos de manera que resulte invisible y perfectamente imbricada con la museografía tradicional. Las interfaces móviles pueden fusionar museo in situ y en red y acompañar a las personas más allá del espacio físico. Esa fusión debe partir de una base de datos narrativa y abierta a obras materiales e inmateriales de otros museos de manera que no se trasladen las limitaciones del museo físico al virtual. En el museo in situ tienen sentido las instalaciones hipermedia inmersivas que faciliten experiencias culturales innovadoras. La interactividad (relaciones virtuales) debe convivir con la interacción (relaciones físicas y personales) y estar al servicio de todas las personas, partiendo de que todas, todos tenemos limitaciones. Trabajar interdisciplinarmente ayuda a comprender mejor el museo para ponerlo al servicio de las personas.