ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínicas of the University of Sao Paulo. In addition to deficiencies in GH, TSH, PRL and gonadotropins some patients develop late ACTH deficiency. Therefore, patients with PROP1 mutations require permanent surveillance. On magnetic resonance imaging, the pituitary stalk is normal, and the posterior lobe is in the normal position. The anterior lobe in patients with PROP1 mutations is usually hypoplastic but may be normal or even enlarged. Bi-allelic PROP1 mutations are currently the most frequently recognized genetic cause of CPHD worldwide. PROP1 defects occur more frequently among offspring of consanguineous parents and familial cases, but they also occur in sporadic cases, especially in countries in which the prevalence of PROP1 mutations is relatively high. We classified all reported PROP1 variants described to date according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines: 29 were pathogenic, 2 were likely pathogenic, and 2 were of unknown significance. An expansion of the phenotype of patients with PROP1 mutations was observed since the first description 20 years ago: variable anterior pituitary size, different pathogenic mutations, and late development of ACTH deficiency. PROP1 mutations are the most common cause of autosomal recessive CPHD with a topic posterior pituitary lobe. Arch Endocrinol Metab. 2019;63(2):167-74

Resumo Neste artigo buscou-se identificar e discutir violações e desafios à efetivação dos direitos reprodutivos das mulheres em situação de privação de liberdade, com ênfase na saúde sexual e reprodutiva. Foram considerados como referenciais de análise os parâmetros normativos que sustentam estes direitos, identificados por levantamento bibliográfico, e os discursos e práticas relativos à sua efetivação no dia a dia das prisões, colhidos em entrevistas com mulheres gestantes e com filhos nas prisões e profissionais cujas práticas interferem no exercício destes direitos. Verificou-se que as violações destes direitos sustentam-se em discursos que deslegitimam a maternidade destas mulheres. Considera-se o recurso aos direitos como estratégico nas lutas pela transformação desta situação.

Abstract This article seeks to identify and discuss violations and challenges to the fulfillment of women’s reproductive rights in situations of deprivation of liberty, with an emphasis on sexual and reproductive health. Regulatory parameters were considered as analytical frameworks that support these rights identified by the literature, and the discourses and practices linked to their effectiveness in the everyday life of prisons, collected in interviews with pregnant women and children in prisons, and the professionals whose practices interfere with the exercise of these rights. It was discovered that violations of these rights find support in speech that delegitimizes the motherhood of these women. We consider the use of rights as strategic in the struggle for the transformation of this situation.

Resumo Neste artigo buscou-se identificar e discutir violações e desafios à efetivação dos direitos reprodutivos das mulheres em situação de privação de liberdade, com ênfase na saúde sexual e reprodutiva. Foram considerados como referenciais de análise os parâmetros normativos que sustentam estes direitos, identificados por levantamento bibliográfico, e os discursos e práticas relativos à sua efetivação no dia a dia das prisões, colhidos em entrevistas com mulheres gestantes e com filhos nas prisões e profissionais cujas práticas interferem no exercício destes direitos. Verificou-se que as violações destes direitos sustentam-se em discursos que deslegitimam a maternidade destas mulheres. Considera-se o recurso aos direitos como estratégico nas lutas pela transformação desta situação.

Abstract This article seeks to identify and discuss violations and challenges to the fulfillment of women’s reproductive rights in situations of deprivation of liberty, with an emphasis on sexual and reproductive health. Regulatory parameters were considered as analytical frameworks that support these rights identified by the literature, and the discourses and practices linked to their effectiveness in the everyday life of prisons, collected in interviews with pregnant women and children in prisons, and the professionals whose practices interfere with the exercise of these rights. It was discovered that violations of these rights find support in speech that delegitimizes the motherhood of these women. We consider the use of rights as strategic in the struggle for the transformation of this situation.

The importance of the patent system for researchers, especially in chemistry and related areas, is undeniable. In this context, this work aims at guiding the search in major search engines of patents, in order to map the patents related to a specific chemical compound and identify the material that each patent document protects. In this case study, it was performed a search for the drug efavirenz to demonstrate how to conduct a literature search in patents databases and to map patent applications at national and international levels.

O presente trabalho tem o intuito de analisar os critérios jurídicos de determinação das relações parentais, propondo a reflexão sobre a paternidade ou maternidade homossexual como manifestação do direito à vida familiar. Para tanto, discute-se o impacto das seguintes inovações biotecnológicas: por um lado, a possibilidade de concepção fora do corpo humano, que ameaça quebrar o valor simbólico que sempre assimilou a categoria de genitor àquela de pai, ameaça esta que se apresenta de forma mais marcante quando a demanda pela reprodução assistida se dá por casais de mesmo sexo. Por outro, a disponibilidade de exames genéticos que permitem o acesso à verdade biológica com alto grau de confiabilidade, provocando verdadeiro embate entre o critério biológico de determinação da paternidade e o critério sócio-afetivo.

The present work aims to analyze the juridical criteria for determining the paternal-filial relations, proposing a reflection about homosexual paternity or maternity as a natural consequence of the right to family life. Along these lines, it is necessary to analyze the current discussion on the impact of biotechnological innovations on important issues, such as: the possibility of conception outside the human body, threatening to crush the symbolic value that has always assimilated the category of genitor to that of father, markedly when the demand for assisted reproduction is made by couples of the same sex; the availability of genetic exams that allow access to the biological truth with high level of trustworthiness, causing a real clash between the biological and the social-affective criteria for determination of paternity.

O presente trabalho tem o intuito de analisar os critérios jurídicos de determinação das relações parentais, propondo a reflexão sobre a paternidade ou maternidade homossexual como manifestação do direito à vida familiar. Para tanto, discute-se o impacto das seguintes inovações biotecnológicas: por um lado, a possibilidade de concepção fora do corpo humano, que ameaça quebrar o valor simbólico que sempre assimilou a categoria de genitor àquela de pai, ameaça esta que se apresenta de forma mais marcante quando a demanda pela reprodução assistida se dá por casais de mesmo sexo. Por outro, a disponibilidade de exames genéticos que permitem o acesso à verdade biológica com alto grau de confiabilidade, provocando verdadeiro embate entre o critério biológico de determinação da paternidade e o critério sócio-afetivo.

The present work aims to analyze the juridical criteria for determining the paternal-filial relations, proposing a reflection about homosexual paternity or maternity as a natural consequence of the right to family life. Along these lines, it is necessary to analyze the current discussion on the impact of biotechnological innovations on important issues, such as: the possibility of conception outside the human body, threatening to crush the symbolic value that has always assimilated the category of genitor to that of father, markedly when the demand for assisted reproduction is made by couples of the same sex; the availability of genetic exams that allow access to the biological truth with high level of trustworthiness, causing a real clash between the biological and the social-affective criteria for determination of paternity.