Remembering Zygmunt Bauman (1925-2017)

At the time of his death, 9 January 2017, Zygmunt Bauman was one of the foremost social theorists in the world ..

Transcatheter closure of a fenestration in intracardiac Fontan circulation

We present a case of tricuspid atresia and the treatment that was used in a child now aged 12. The malformation was corrected at the age of five through intracardiac Fontan circulation. Later, the child developed a right-to-left shunt due to dehiscence in the intra-atrial conduit, causing significant desaturation. This was treated by transcatheter closure with a 10 mm Amplatzer device at 8 years of age. Currently the child is asymptomatic with no residual shunts, and the position of the device is normal. The percutaneous closure of Fontan fenestrations using the Amplatzer device is a therapeutic approach that provides good results. It results in normal oxygen saturation and has low morbidity. The technique is simple, available to most cardiac catheterization laboratories, safe, and offers a reasonable cost-benefit ratio. In addition, the design of the device is suitable for this type of defect

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals

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

CENTRO DE PARTO NORMAL COMO ESTRATÉGIA DE INCENTIVO AO PARTO NORMAL: ESTUDO DESCRITIVO

Recientemente se verificó un esfuerzo gubernamental para reducir las tasas de cesariana en el sector público y cualificar la asistencia al parto normal. Así, se crearon los Centros de Parto Normal (CPN) destinados al acompañamiento de nacimientos fisiológicos, a cargo de enfermeras obstétricas. Este estudio descriptivo tuvo como objetivo caracterizar a las parturientas en cuanto a la edad materna, historia obstétrica, condiciones del parto y del recién-nacido en un CPN, en la ciudad de São Paulo. Se utilizaron datos secundarios de registros de nacimientos atendidos por enfermeras obstétricas y se analizaron 1.860 registros de partos ocurridos en julio y agosto de 2001. Los resultados indican: edad media de 23,7 años; 44,4% de nulíparas; 79,0% de partos normales; peso medio de los recién-nacidos de 3.174g; Apgar ≥7 en el primer y quinto minutos en 93,7% y 99,1% de los recién nacidos, respectivamente. Se concluyó que la atención al parto hecha por enfermeras obstétricas es importante para valorar la fisiología del parto y nacimiento, con indicadores obstétricos y neonatales de calidad.Tem-se verificado um esforço governamental para reduzir as taxas de cesariana no setor público e qualificar a assistência ao parto normal. Assim, foram criados Centros de Parto Normal (CPN) destinados ao acompanhamento de nascimentos fisiológicos, a cargo de enfermeiras obstétricas. Este estudo descritivo teve como objetivo caracterizar as parturientes quanto à idade materna, história obstétrica, condições do parto e do recémnascido em um CPN, na cidade de São Paulo. Utilizaram-se dados secundários de registros de nascimentos assistidos por enfermeiras obstétricas. Foram analisados 1.860 registros de partos ocorridos em julho e agosto de 2001. Os resultados indicam: idade média de 23,7 anos; 44,4% de nulíparas; 79,0% de partos normais; peso médio dos recém-nascidos de 3.174 g; índice de Apgar ≥7 no primeiro e quinto minutos em 93,7% e 99,1% dos recémnascidos, respectivamente. Concluiu-se que a assistência prestada por enfermeiras obstétricas em CPN vai ir ao encontro da valorização da fisiologia do parto e nascimento, com indicadores neonatais e obstétricos de qualidade