Replacement schedules with hydrocortisone (HC) to treat 21OHD are generally unsatisfactory and partially successful regarding growth. Noncompliance is common since its short half-life requires TID administration. Even multiple daily HC doses do not reproduce cortisol chronobiology and may disturb hypothalamic-mediated rhythms. Because synthetic glucocorticoids could improve clinical control, we evaluated the possible benefits of a one-year treatment period with a single morning oral dose of prednisolone (PD) phosphate in 44 patients with 21OHD randomized to two sex and age-matched groups: one (n=23) receiving PD (2.4-3.5 mg/m2 BSA) and the other (n=21) TID HC (10-15 mg/m2 BSA). After one year, bone maturation ratio was kept stable in the PD group (from 1.20 to 1.14), whereas a slight increase was seen in the HC group (from 1.21 to 1.29). Growth velocity (SDS) was preserved in the PD group (from 1.2 to 1.2 in all; 0.79 to 1.13 in pre-pubertals), whereas a slight increase occurred in the pre-pubertal HC-treated patients (from 1.1 to 1.9); height SDS for BA increased significantly in the PD group. Thus, patients with 21OHD treated for one year with a single morning dose of PD appear to achieve a better clinical and hormonal control than those on TID HC, permitting a reduction of the replacement dose. The current PD schedule used by our group (1.5-3 mg/m2 BSA/day) suggests a higher HC:PD bioequivalence ratio of 6-8:1.

No abstract

Prothrombin variant 20210A is maintained to be a mild risk factor for venous thromboembolism (VTE). The association of this defect with other inherited thrombophilic conditions may result in an increased risk of developing VTE. In this article, a family is described in which prothrombin variant was associated with either homozygous or heterozygous factor V Leiden (FV Leiden) mutation. All family members except the proband were asymptomatic despite the presence and the severity of the underlying genetic defect(s). The proband, who carried homozygous FV Leiden mutation and heterozygous prothrombin variant, experienced recurrent VTE during pregnancies, whereas one brother, with the same defect, was asymptomatic. Mean prothrombin antigen and activity levels were higher in carriers of the prothrombin variant as compared with noncarriers. Thrombin generation was assessed in family members, in carriers of prothrombin variant or homozygous FV Leiden mutation and in a control group. Most of the family members presented with increased prothrombin fragment 1+2 levels possibly because of the presence of the FV Leiden mutation. Although it is conceivable that the co-inheritance of prothrombin variant and FV Leiden mutation may increase the risk of VTE, patients with these combined defects may remain asymptomatic. It is likely that acquired triggering conditions play a major role in determining VTE in carriers of a mild genetic predisposition. This has to be taken into account when recommendation for thromboprophylaxis is given.

Introduction: Sexual disorders are the most neglected nonmotor symptoms in Parkinson's disease (PD). Although doctors seek greater priority to motor manifestations, which are the basis for the diagnosis of PD, the nonmotor symptoms deserve to be highlighted as much as the motor problems because of their strong presence and discomfort in the patients, causing the important impairment in the quality of life (QoL) of the individual with PD. Aim: Provide the prevalence of sexual disorders among patients with PD and alert the medical profession to investigate and be familiar with problems related to QoL and sexual disorders in PD. Methods: This is a large literature review on sexual disorders in PD and impaired QoL. Main Outcome Measures: Sexual disorders in PD and prevalence between genders have been described in epidemiological studies. Neuroanatomy, pathophysiology, risk factors, QoL, and etiologies were reviewed. Results: The estimate of the prevalence of sexual dysfunction in the form of compulsive sexual behavior in PD is higher in men by 5.2% than in women by 0.5%. This diagnosis is a determinant of intense and persistent suffering and is related to several health problems of a social, economic, personal, family, psychological, and occupational nature, which can even culminate in sexual abuse. It is most commonly associated with the use of drugs commonly used in PD therapy in 98.1% of cases. In addition to this serious public health problem, another common condition of sexual dysfunction occur with the decreased libido by loss of the neurotransmitter dopamine proper of the pathophysiology of PD. Conclusion: The presence of sexual disorders in PD should be tracked and monitored because of its harmful consequences, whether due to increased sexual behavior or associated psychological distress, as well as the impacts on QoL. Early recognition and adequate treatment of PD in its fullness and richness of associated symptoms are essential for improving QoL. Santa Rosa Malcher CM, Roberto da Silva Gonçalves Oliveira K, Fernandes Caldato MC, et al. Sexual Disorders and Quality of Life in Parkinson's Disease. Sex Med 2020;XX:XXXeXXX.

Resumo O avanço da medicina aprimorou o tratamento de enfermidades, modificando o padrão de morbimortalidade da população, com aumento de doenças crônicas. Esse fenômeno tornou urgente interpretar adequadamente a terminalidade da vida. Considerando essa necessidade, este estudo, de corte transversal, descritivo e analítico, analisou dados sobre a percepção de 111 estudantes do sexto ano de medicina acerca dos cuidados paliativos no fim da vida. Os dados foram coletados entre agosto e novembro de 2016, por meio de questionário e analisados por testes estatísticos com o programa Iramuteq. 37,3% dos estudantes relataram dificuldade em comunicar a morte do paciente à família; 60% sentem-se despreparados ou com dúvidas sobre como lidar com óbitos em serviço de urgência; 25% desconheciam o termo “eutanásia”, 53% “ortotanásia”, e 56% “distanásia”. Os resultados mostram que ainda há lacunas no conhecimento desses estudantes, explicitando a necessidade de que escolas médicas reforcem práticas pedagógicas sobre a morte.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.

Objetivo: Relatar a construção de uma tecnologia educativa, do tipo manual, que visa prestar orientações para o planejamento e implementação de ações de Educação Permanente no Centro Cirúrgico de um Hospital Público no interior do Estado do Pará, com ênfase na equipe de enfermagem. Relato de experiência: Intitulado “Manual de Orientações para a Educação Permanente em Centro Cirúrgico”, esta tecnologia educativa fundamentou-se nos conceitos da Educação Permanente em Saúde (EPS) e das Metodologias Ativas de Ensino-Aprendizagem, buscando evidenciar a relevância da relação entre eles ao associá-los à assistência à saúde, especialmente no que se refere à assistência de enfermagem perioperatória em Centro Cirúrgico. Como resultados, evidencia-se a descrição detalhada da construção do manual, o qual foi dividido, estruturalmente, em 2 unidades: I – Sobre o que iremos falar? E II – Proposta para a execução do Manual de Orientações para a Educação Permanente em Centro Cirúrgico. Considerações finais: Este manual possui o potencial de instrumentalizar gestores responsáveis pela implementação dos processos de EPS no planejamento e na execução de ações educacionais aos profissionais que atuam em Centro Cirúrgico, com ênfase na equipe de enfermagem, estimulando o pensamento crítico-reflexivo.

Objetivo: Relatar a construção de duas tecnologias educacionais com o tema de “Orientações para a limpeza terminal de transportes coletivos e individuais e uso de Equipamentos de Proteção Individual (EPI) necessário ao trabalhador de limpeza para a prevenção da Covid-19” como forma de combate a pandemia. Relato de Experiência: O presente trabalho trata-se de um estudo descritivo, do tipo relato de experiência, especificamente, sobre a criação de um vídeo e de uma cartilha informativa como forma de combate a covid-19, sendo que tal experiência aconteceu em seis etapas: pesquisa bibliográfica, escolha do tipo de tecnologia, linguagens e recursos gráficos adequados ao público alvo, elaboração da cartilha, elaboração do vídeo e publicação das mídias em aplicativos e redes sociais. Após a divulgação das mídias, foi possível perceber que as mesmas foram bem recebidas pela população. Considerações Finais: Concluiu-se que as tecnologias educacionais virtuais elaboradas são de suma importância para o combate da pandemia de covid-19, uma vez que ações de educação em saúde comunitárias não são eficientes em virtude da fácil contaminação do vírus e necessidade de redução de aglomerações.