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Familial lecithin-cholesterol acyltransferase deficiency (FLD) is a rare recessive disorder of cholesterol metabolism, caused by loss-of-function mutations in the human LCAT gene, leading to alterations in the lipid/lipoprotein profile, with extremely low HDL levels.The classical FLD phenotype is characterized by diffuse corneal opacification, haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been reported in a few families worldwide.We describe an intermediate phenotype of LCAT deficiency, with CKD preceding the development of corneal clouding, in two Portuguese brothers apparently homozygous for a novel missense LCAT gene mutation. The atypical phenotype, the diagnosis of membranous nephropathy in the proband's native kidney biopsy, the late-onset and delayed recognition of the corneal opacification, the co-segregation with Gilbert syndrome and the late recurrence of the primary disease in kidney allograft all contributed to obscure the diagnosis of an LCAT deficiency syndrome for many years.A major teaching point is that on standard light microscopy examination the kidney biopsies of patients with LCAT deficiency with residual enzyme activity may not show significant vacuolization and may be misdiagnosed as membranous nephropathy. The cases of these two patients also illustrate the importance of performing detailed physical examination in young adults presenting with proteinuric CKD, as the most important clue to the diagnosis of FLD is in the eyes.

A Doença Hemolítica do Feto e do Recém-Nascido (DHFRN) é causada pela aloimunização materna aos antígenos dos eritrócitos, no qual há destruição dos eritrócitos fetais e neonatais, levando à hemólise fetal e outros agravos que devem ser acompanhados por uma equipe multiprofissional, o que demanda gastos para o sistema público de saúde. Este trabalho objetivou descrever as internações pela DHFRN no estado do Piauí no período entre 2014 e 2019. É um estudo descritivo quali-quantitativo que fez uso de dados secundários para descrever as internações por DHFRN, no estado do Piauí entre os anos de 2014 a 2019. No período estudado houve um total de 70 internações devido à DHFRN o que representa apenas 0,40% das internações ocorridas em todo o país no mesmo ano. A média de permanência dessas internações é de 5,4 dias, enquanto que a média de custos é de R$ 506,24. No Brasil, houve 64 óbitos em relação a essas internações e ao período em questão, sendo que nenhuma delas ocorreu no Piauí. Percebe-se, então, que há necessidade de realizar mais estudos desse tema para ter conhecimento da real natureza dos casos de DHFRN no estado do Piauí. Não é possível inferir se ocorre subnotificação dos casos ou se de fato há um número menor de ocorrências. Além disso, em 2018 houve um aumento dissonante do número de casos no Litoral, e não há registros na literatura que ajudem a justificar esse acréscimo.

A variety of pneumonia cases of unknown cause emerged in China in December 2019. A new virus belonging to the Coronaviridae family, called severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which causes coronavirus disease 2019 . Within a few days, COVID-19 became a pandemic disease. This review aimed to investigate the possible implications of COVID-19 for human reproductive systems, as in previous studies ACE2 was highly expressed in some organs of these systems, such as the testicles. A total of 41 publications were found in the specialized databases and, after selection, 7 articles were used to build this study. Our results showed that the fever caused by COVID-19 has a negative effect on spermatogenesis, there is high expression of ACE2 in the testicles and in the uterine tubes and there is a higher level of transmembrane protease serine 2 (TMPRSS2), which is also responsible for the entry of the virus into the cell. Moreover, it was noted that there was viral genetic material in the semen and an increase in the serum concentration of luteinizing hormone (LH) in men and women, which