O cuidado de si e a docência em teatro : entre paralelos e inquietações

Este trabalho de conclusão de curso realizou entrevistas sobre o cuidado de si na docência em teatro com professoras e professores que influenciaram a minha trajetória como estudante de licenciatura em teatro no departamento de arte dramática da universidade federal do rio grande do sul. A fundamentação teórica foi embasada em autores sobre psicologia, pedagogia teatral, educação, filosofia, tais como: Michel Foucault, Gilberto Icle, Julio Groppa Aquino, Maria Lucia de Souza Barros Pupo, Jean Claude Kauffman

O cuidado de si e a docência em teatro : entre paralelos e inquietações

Este trabalho de conclusão de curso realizou entrevistas sobre o cuidado de si na docência em teatro com professoras e professores que influenciaram a minha trajetória como estudante de licenciatura em teatro no departamento de arte dramática da universidade federal do rio grande do sul. A fundamentação teórica foi embasada em autores sobre psicologia, pedagogia teatral, educação, filosofia, tais como: Michel Foucault, Gilberto Icle, Julio Groppa Aquino, Maria Lucia de Souza Barros Pupo, Jean Claude Kauffman

The use of genetics for reaching a diagnosis in XY DSD.

Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD where the diagnostic yield is particularly low. Molecular genetic technology is playing an increasingly important role in the diagnostic process, and it is highly likely that it will be used more often at an earlier stage in the diagnostic process. In many cases of DSD, the clinical utility of molecular genetics is unequivocally clear, but in many other cases there is a need for careful exploration of the benefit of genetic diagnosis through long-term monitoring of these cases. Furthermore, the incorporation of molecular genetics into the diagnostic process requires a careful appreciation of the strengths and weaknesses of the evolving technology, and the interpretation of the results requires a clear understanding of the wide range of conditions that are associated with DSD

WT1: A single gene associated with multiple and severe phenotypes

The Wilms tumor suppressor gene (WT1) is a transcription factor with a wide array of functions, that affects the differentiation and survival of several cell types in different organs. It plays a special role in renal and gonadal development, organs in which WT1 deleterious variants determine well-established conditions, such as Wilms tumor, corticosteroid-resistant nephropathy with progression to loss of renal function, and a spectrum of gonadal development abnormalities (XX and XY gonadal dysgenesis, XX testicular and XX ovotesticular) and testicular tumors. Moreover, WT1 variants are also associated with urinary tract malformations, heart and nervous system diseases, diaphragmatic hernias, leukemia, and tumorigenesis. Consequently, an increasingly broad phenotypic spectrum has been associated with WT1 deleterious variants in 46,XX, and 46,XY individuals. The genotype-phenotype causal relationship involving WT1 pathogenic variants and their heterogeneous clinical manifestations is also discussed.This review summarizes current knowledge regarding the clinical implications of WT1 disorders and highlights the importance of diagnosing deleterious variants of WT1 for the early identification of individuals at high risk of developing severe phenotypes, for the adequate planning of the therapeutic approach, and for familiar genetic counseling

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Abstract Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR‐210 in 46,XY DSD patients who presented atypical genitalia at birth. Methods Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR‐210 and reference miR‐23a were measured using RT‐qPCR and the data were analysed by the 2−ΔCt method. Results MiR‐210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR‐210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR‐210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR‐210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. Conclusion Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR‐210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD

Androgen insensitivity syndrome: a review

ABSTRACT Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype – phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling