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Objetivo: Descrever a construção de um simulador de baixo custo de drenagem torácica para capacitar a realização deste procedimento. Métodos: A concepção do modelo se deu em 2014 por integrantes do Programa de Educação Tutorial do curso de Medicina da UNIFOR. A seguir, o modelo foi testado por 10 especialistas e posteriormente aprovado para ser aplicado em quatro edições de um curso teórico-prático de procedimentos invasivos com acadêmicos de Medicina de diferentes universidades. Para avaliar o simulador e o desempenho no seu uso, aplicou-se questionários semiestruturados e checklist. Os dados foram analisados pelo Statistical Package for the Social Sciences v. 22 usando estatística descritiva. Resultados: Usou-se um manequim plástico comercial em que foi realizado um corte de 8x8 cm na região lateral do tórax, correspondente ao local da drenagem. Neste local, foram posicionadas folhas de E.V.A. (simulando pele e músculos intercostais), esponja de estofado (subcutâneo) e folha de PVC (pleura). Na parte interna do manequim foi colocada uma estrutura de madeira contendo duas costelas e, entre elas, um copo plástico recoberto por E.V.A. contendo líquido vermelho (simulando um hemotórax). O custo inicial do modelo completo foi de R$ 81,00/US$ 21,00. Quando testado por especialistas, todos concordaram que o modelo pode ser usado para o ensino na graduação. Durante o curso de procedimentos invasivos, 129 acadêmicos realizaram o procedimento, em que 64,3% dos alunos inseriram corretamente o dreno e 79,1% conectaram ao sistema de drenagem. Apesar de um percentual de erros importante visto em passos iniciais básicos, os alunos conseguiram executar a técnica proposta de forma suficiente. Conclusão: O simulador de drenagem de tórax mostrou-se ser de fácil acesso e reprodução nas universidades, o que o torna uma ferramenta útil para o ensino.

Introduction: Debating arts during graduation can be a creative way to develop new perceptions and perspectives for medical students. To promote activities that aim to create moments involving humanistic themes, simultaneously to technical medical knowledge, such as arts and physical activities in a playful setting, remains a challenge. A extracurricular Global Improvement Programme of Medical Students (GIPMS) of the University of Fortaleza was created on this context, and included meetings involving various artistic stimuli. Purpose: The objective of this paper is to evaluate if the contact with art during graduation in the context of GIPMS can generate perceptions, feelings and reflections to provide important debates. Methods: A prospective qualitative study was conducted including a total of 42 focal group sessions, which were recorded and fully transcribed. Each group was conducted by 2 mentors, and all 6 focal groups used standardized qualitative questionnaires each session, which were performed every 45 days. A thematic analysis of the transcripts was performed, confirmed with the QSR NVIVO software (version 11). Results: A total of 40 students (15 men and 25 women) participated in this one-year study. The categories found were: Artistic stimuli were able to make participants think (124 quotes), feel (78, 65 about positive feelings and 13 about negative ones) and remember (41). The following stood out: the influence of the time load of studies in the time dedicated to the arts and the reflections. (61); relationship between the arts and life and academic productivity (75); changes in attitudes provided by the proposed artistic stimuli (38 citations). Conclusions: The program was able to generate, in an innovative way, new perceptions of feelings, sensations and reflections, as well as to evoke memories that provided important debates, which, according to the students themselves, served as inspiration to change perspectives and attitudes and provided subjective benefits in academic life.

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction. Birth Defects Research (Part C) 108:309–320, 2016. © 2016 The Authors Birth Defects Research Part C: Embryo Today: Reviews Published by Wiley Periodicals, Inc.

Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that plays key roles in endocrine development and function. Knockout mice lacking SF-1 have adrenal and gonadal agenesis, impaired gonadotropin expression, and structural abnormalities of the ventromedial hypothalamic nucleus. Previous studies have identified three human subjects with mutations in SF-1 causing adrenocortical insufficiency with varying degrees of gonadal dysfunction. We now describe a novel 8-bp microdeletion of SF-1, isolated from a 46, XY patient who presented with gonadal agenesis but normal adrenal function, which causes premature termination upstream of sequences encoding the activation function 2 domain. In cell transfection experiments, the mutated protein possessed no intrinsic transcriptional activity but rather inhibited the function of the wild-type protein in most cell types. To our knowledge, this is the first example of an apparent dominant-negative effect of a SF-1 mutation in humans. These findings, which define a SF-1 mutation that apparently differentially affects its transcriptional activity in vivo in the adrenal cortex and the gonads, may be relevant to the cohort of patients who present with 46, XY sex reversal but normal adrenal function.

Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins, hormones, receptors, and enzymes that are expressed at multiple levels of the HPG. We report the experience of a single Endocrinology Unit in the identification and characterization of naturally occurring mutations in families affected by HPG disorders, including forms of precocious puberty, hypogonadism and abnormal sexual development due to impaired gonadotropin function. Eight distinct genes implicated in HPG function were studied: KAL, SF1, DAX1, GnRH, GnRHR, FSHbeta, FSHR, and LHR. Most mutations identified in our cohort are described for the first time in literature. New mutations in SF1, DAX1 and GnRHR genes were identified in three Brazilian patients with hypogonadism. Eight boys with luteinizing hormone- (LH) independent precocious puberty due to testotoxicosis were studied, and all have their LH receptor (LHR) defects elucidated. Among the identified LHR molecular defects, three were new activating mutations. In addition, these mutations were frequently associated with new clinical and hormonal aspects, contributing significantly to the knowledge of the molecular basis of reproductive disorders. In conclusion, the naturally occurring genetic mutations described in the Brazilian families studied provide important insights into the regulation of the HPG.

In this review, we described the genes that encode an array of transcription factors, matrix proteins, hormones, enzymes and receptors that are expressed at multiple levels of the hypothalamic-pituitary-gonadal axis (HPG). In addition, we reported our experience in the identification and characterization of naturally occurring mutations in patients affected by HPG disorders, including hypergonadotropic hypogonadism and hypogonadotropic hypogonadism, isolated or associated with others pituitary hormonal deficiencies, and abnormalities of pubertal and sexual development. To date, fifteen distinct genes implicated with HPG axis development and function were identified: KAL, SF1, DAX1, LEPTIN, PC1, GnRH, GnRHR, HESX1, LHX3, PROP1, FSHR, LHR, LHb, FSHb and FGFR1. Most mutations identified in our cohort were described for the first time in literature and they frequently were associated with new clinical and hormonal aspects of the diseases. Characterization of the consequences of these mutations in in vitro studies have provided increased understanding of the structure and function of the proteins encoded by these genes. The combined clinical, hormonal and molecular diagnosis of HPG disorders have helped significantly to improve the knowledge and, consequently, the diagnosis and treatment of these patients.

O ensino médico sofreu intensas modificações nos últimos anos. A rápida evolução do conhecimento requer metodologias que estimulem a metacognição, substituindo o excesso de conteúdo pelo"aprender a aprender", formando profissionais construtores ativos do seu conhecimento e capacitados para refletir sobre a própria prática. A importância do conteúdo de emergências é inquestionável, especialmente na graduação, pois se trata de uma área de grande carência de profissionais que vem sendo cada vez mais ocupada pelo médico recém-graduado, quase sempre despreparado para se conduzir diante da gravidade dos casos. Simular a realidade integra o saber ao fazer, aliados ao desenvolvimento de habilidades. O ensino das emergências em cenários reais é insubstituível, contudo limitado por questões de segurança do paciente e pela impossibilidade de repetição de procedimentos.A simulação em laboratório de habilidades propicia contato do aluno com diversas situações em ambiente controlado, permite repetição e favorece o aprendizado significativo mediante discussão dos temas e reflexão sobre a própria prática.Este artigo descreve a inserção longitudinal do conteúdo de emergências médicas no currículo de um curso de Medicina,utilizando técnicas de simulação e reflexão acerca da prática como metodologia de aprendizado, além da vivência em ambientes de prática real. Medical education has undergone substantial changes in recent years. The rapid evolution of knowledge demands new teaching models involving active learning, metacognition and reflexive practice. Training in emergency care is of utmost importance in an undergraduate medical course, since the lack of professionals in this area means that emergency care is often staffed by new graduates, almost always unprepared to deal with the severity of the cases. Training technical medical skills within this scenario is necessary to provide the medical student with a realistic vision of the work,however it is limited due to patient safety and the inability to repeat procedures. Teaching emergency care through high fidelity simulators is an excellent solution that allows procedures to be repeated as many times as necessary and favours meaningful learning through discussion of topics and reflections on the practices. This study describes how emergency care training has been included throughout the curriculum for undergraduate medical training in Brazil, using simulation and reflection on the practice as learning tools, as well as real life experience in emergency care settings.

SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. We report, in the present study, a female patient with 45,X/46,X, psu idic(X)(pter→q21::q21→pter) karyotype, tall stature, and hypergonadotrophic hypogonadism without Turner stigmas. She did not present breast development even after long term therapy with high estrogen doses. Fluorescence in situ hybridization depicted the presence of three copies of SHOX gene. Microsatellite studies showed paternal origin of der(X). Further studies in similarly affected patients will clarify if the absence of breast development, despite previous high-dose estrogen treatment, is associated to triple copy of SHOX gene. O gene SHOX é expresso, exclusivamente, no primeiro e no segundo arcos faríngeos, assim como nas extremidades dos ossos dos membros em embriões humanos. SHOX normalmente atua como um promotor para o crescimento linear e como um repressor do fechamento da placa de crescimento. Recentemente, foi descrito que o excesso da proteína SHOX associada à deficiência estrogênica gonadal leva à estatura alta devido ao contínuo crescimento. Neste estudo descrevemos uma paciente do sexo feminino com cariótipo 45,X/46,X,psu idic(X)(pter→q21::q21→pter), estatura alta, hipogonadismo hipergonadotrófico e sem estigmas de Turner. A paciente não apresentou desenvolvimento de mamas, mesmo depois do tratamento prolongado com altas doses de estrógenos. FISH evidenciou a presença de três cópias do SHOX. Estudo de microssatélites demonstrou a origem paterna do der(X). Estudos futuros em pacientes com semelhanças clínicas esclarecerão se a ausência de desenvolvimento de mamas, apesar do tratamento com altas doses de estrógenos, está associada à tripla cópia do SHOX.

A síndrome de insensibilidade aos andrógenos é uma doença rara ligada ao X, causada por mutações no gene do receptor androgênico (AR), associada a uma variedade de fenótipos em indivíduos 46,XY. Avaliamos duas irmãs gêmeas de 23 anos com sexo social feminino encaminhadas por amenorréia primária, e que apresentavam gônadas palpáveis na região inguinal e cariótipo 46,XY. A ultra-sonografia pélvica não evidenciou útero. As dosagens basais revelaram concentrações elevadas de LH (35 e 42U/L), normais de FSH (7,9 e 7,8U/L) e altas de testosterona (1330 e 1660ng/dl). O estudo molecular identificou uma rara mutação missense no exon 5 do gene do AR com a troca de uma prolina por uma alanina na posição 766 da proteína. O aminoácido prolina 766 do AR é altamente conservado entre as espécies e situa-se em região correspondente ao domínio de ligação ao andrógeno. Androgen insensitivity syndrome (AIS) is a rare X-linked disorder, caused by mutations in the androgen receptor gene (AR), associated with a variety of phenotypes in 46,XY individuals. We studied two 23 year-old twin-sisters with female social sex referred due to primary amenorrhea, who exhibited bilateral palpable gonads in the inguinal region and a 46,XY karyotype. The uterus was absent in pelvic sonograms. Basal LH levels were elevated (35 and 42U/L), with normal FSH (7.9 and 7.8U/L) and high testosterone levels (1330 and 1660ng/dl). The molecular analysis identified a missense mutation in exon 5 of AR gene that changed a proline to an alanine at position 766 of the protein. Proline 766 is a highly conserved amino acid in the AR of several species and is located in the androgen binding domain.

In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions) of DAX1 and WNT4 genes. In the second group consisting of thirty-three 46,XY sex-reversed patients we investigated the presence of inactivating mutations in the SRY and SF1 genes as well as the overexpression (duplication) of the DAX1 and WNT4 genes. The SRY gene was present in two 46,XX male patients and in none of the true hermaphrodites. Only one mutation, located outside homeobox domain of the 5' region of the HMG box of SRY (S18N), was identified in a patient with 46,XY sex reversal. A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. The dosage of DAX1 and WNT4 was normal in the sex-reversed patients studied. We conclude that these genes are rarely involved in the etiology of male gonadal development in sex-reversed patients, a fact suggesting the presence of other genes in the sex determination cascade.

BACKGROUND: Paracentesis is a routine medical procedure quite relevant in clinical practice. There are risks of complications related to paracentesis, so it is essential a proper trainee for the younger practicer. OBJECTIVE: The article describes the construction and the application of a low cost paracentesis simulator for undergraduate medical students and it also describes the perception of students about the simulator as well. METHODS: A low-cost model was developed by the Program of Tutorial Education for training medical students during three editions of an undergraduate theoretical-practical course of bedside invasive procedures. The authors constructed a model from very low-cost and easily accessible materials, such as commercial dummy plus wooden and plastic supports to represent the abdomen, synthetic leather fabric for the skin, upholstered sponge coated with plastic film to represent the abdominal wall and procedure gloves with water mixed with paint to simulate the ascitic fluid and other abdominal structures. One semi-structured form with quantitative and qualitative questions was applied for medical specialists and students in order to evaluate the paracentesis simulator. RESULTS: The paracentesis model has an initial cost of US$22.00 / R$70.00 for 30 simulations and US$16.00 / R$50.00 for every 30 additional simulations. It was tested by eight medical doctors, including clinical medicine, general surgeons and gastroenterologists, and all of them fully agreed that the procedure should be performed on the manikin before in the actual patient, and they all approved the model for undergraduate education. A total of 87 undergraduate medical students (56% male) individually performed the procedure in our simulator. Regarding the steps of the procedure, 80.5% identified the appropriate place for needle puncture and 75.9% proceeded with the Z or traction technique. An amount of 80.5% of the students were able to aspire the fluid and another 80.5% of students correctly performed the bandage at the end of the procedure. All the students fully agreed that simulated paracentesis training should be performed prior to performing the procedure on a real patient. CONCLUSION: The elaboration of a teaching model in paracentesis provided unique experience to authors and participants, allowing a visible correlation of the human anatomy with synthetic materials, deepening knowledge of this basic science and developing creative skills, which enhances clinical practice. There are no data on the use of paracentesis simulation models in Brazilian universities. However, the procedure is quite accomplished in health services and needs to be trained. The model described above was presented as qualified with low cost and easily reproducible. RESUMO CONTEXTO: A paracentese é um procedimento médico de rotina bastante relevante na prática clínica. Devido à sua importância na assistência médica diária e seus riscos de complicações, o treino do procedimento é essencial em currículos médicos reconhecidos. OBJETIVO: Descrever a construção de um simulador de paracentese de baixo custo, destacando a percepção de estudantes sobre o seu uso para treinamento na graduação em Medicina. MÉTODOS: Um modelo de baixo custo foi desenvolvido pelo Programa de Educação Tutorial para treinamento de estudantes de Medicina durante três edições de um curso teórico-prático de procedimentos invasivos à beira do leito. Os autores construíram um modelo a partir de materiais comuns e de fácil acesso, como manequim comercial e suportes de madeira e plástico para representar o abdômen, tecido de couro sintético para a pele, esponja revestida com filme plástico para representar a parede abdominal e luvas de procedimento com água misturada com tinta para simular o líquido ascítico e outras estruturas abdominais. Para avaliar o modelo, aplicou-se um questionário semiestruturado com aspectos quantitativos e qualitativos para médicos especialistas e estudantes. RESULTADOS: O modelo para paracentese tem orçamento inicial de US$22.00 / R$70,00 para 30 simulações e US$16.00 / R$50,00 para cada 30 simulações adicionais. Foi testado por oito especialistas (clínico geral, cirurgião geral e gastroenterologista), dos quais quatro são gastroenterologistas, e todos concordaram plenamente que o procedimento deve ser realizado no manequim antes de ser feito no paciente real, e todos eles aprovaram o modelo para o ensino de graduação. Durante as edições do curso, um total de 87 estudantes de graduação em Medicina (56% homens) realizaram individualmente o procedimento. Em relação às etapas do procedimento, do total de alunos avaliados, 80,5% identificaram o local apropriado para a punção e 75,9% procederam com a técnica Z ou tração. Ao final, 80,5% dos alunos conseguiram aspirar ao conteúdo ascítico, com 80,5% realizando o curativo e finalizando o procedimento. Todos os alunos concordaram plenamente que o treinamento com paracentese simulada deve ser feito antes de se realizar o procedimento em um paciente real. CONCLUSÃO: A elaboração de um modelo de ensino em paracentese proporcionou experiência única a autores e participantes, permitindo uma visível correlação da anatomia humana com materiais sintéticos, aprofundando o conhecimento desta ciência básica e desenvolvendo habilidades criativas, o que potencializa a prática clínica. Não há dados sobre o uso de modelos de simulação de paracentese em universidades brasileiras. No entanto, o procedimento é bastante realizado nos serviços de saúde e precisa ser treinado. O modelo descrito acima foi apresentado como de qualidade, baixo custo e de fácil reprodutibilidade, sendo inédito no cenário da educação médica nacional, mostrando-se uma ferramenta complementar de ensino na graduação e preparando os alunos para o procedimento in vivo.