Objective To verify the efficacy of short-term prophylaxis for vaginal or cesarean section childbirth with plasma-derived C1-inhibitor concentrate in pregnant women. They should have hereditary angioedema (HAE) and normal plasma C1-inhibitor. Methods Case report of pregnant women diagnosed with HAE with normal C1-inhibitor who had been treated with intravenous C1-inhibitor concentrate for prophylaxis of angioedema attacks when hospitalized for delivery. The exon 9 of the Factor 12 (F12) genotyping gene was performed by automatic sequencing in all patients. Results Three cases of pregnant women with HAE with normal serum level of C1-inhibitor are reported. The genetic test detected the presence of a pathogenic mutation in the F12 gene. Deliveries occurred uneventfully and patients had no HAE symptoms in the following 72 hours. Conclusion C1-inhibitor concentrate could be useful to prevent angioedema attacks during and after delivery.

Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. Case description: A male baby was born at 37 weeks’ gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. Comments: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.

SUMMARY OBJECTIVE To investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation. METHODS Patients clinically diagnosed with HAE but without C1-INH deficiency or dysfunction and F12 gene mutation were evaluated. DNA extraction, quantification, and dilution were performed at a concentration of 100 ng/µL, followed by a DNA amplification (PCR) for molecular evaluation of exon 2 of the ANGPT1 gene and exon 9 of the PLG gene for identification of mutations c.807G>T / p.A119S and c.988A>G / p.K330E, respectively. The PCR product was evaluated in 1% agarose gel electrophoresis. Sequencing was performed using the Sanger method. The electropherograms were analyzed using the FASTA® program. RESULTS DNA samples from 15 women were sequenced. Their ages ranged from 10 to 60 years and the normal C1 esterase and C4 inhibitor serum levels ranged from 22 to 39 mg/dL and from 10 to 40 mg/dL, respectively. No mutations were detected in the analyzed exons of ANGPT1 and PLG. However, a single-nucleotide polymorphism (SNP) was detected in two homozygotic and five heterozygotic patients. CONCLUSION Further studies are needed to evaluate these SNPs and scrutinize their potential for use as molecular markers of HAE and as novel therapeutic targets.

Angioedema Hereditário (AEH) é uma doença pouco conhecida por profissionais da saúde, portanto subdiagnosticada. O objetivo do estudo, foi analisar artigos referentes à temática abordada dos últimos 5 anos. AEH é uma doença genética rara e grave do sistema imunológico, de caráter autossômico dominante, causada pela deficiência de inibidor de C1 esterase (C1-INH). Classificada em 3 fenótipos: deficiência quantitativa do inibidor de C1-INH, disfunção de C1-INH e C1-INH normal. Mutações em diversos genes estão associadas ao fenótipo do AEH, pacientes com deficiência e disfunção da proteína C1-INH possuem mutações no gene SERPING1 e pacientes com C1-INH normal, podem apresentar mutações nos genes F12, angiopoietina (ANGPT1), plasminogênio (PLG) ou cininogênio (KNG1). Os sintomas do AEH são caracterizados por edemas recorrentes em várias partes do corpo, tanto em pele como órgãos internos. Para a elaboração deste estudo realizou-se uma revisão integrativa da literatura, os artigos foram pesquisados ​​em três bases de dados eletrônicas, Google Scholar, PubMed e Scielo, utilizando os descritores “angioedema hereditário”, “mutações”, “bradicinina”, “C1-INH”, “SERPING1”, “plasminogênio”, “angiopoietina”, “F12” e “cininogênio”, conectados por operadores boleanos AND e OR. A pesquisa no banco de dados revelou um total de 874 artigos, após triagem, 32 artigos foram avaliados. Com a pesquisa tornou-se possível compreender não somente os mecanismos percursores que levam ao desenvolvimento da doença, mas também as mutações genéticas responsáveis pelas diversas formas de manifestações clínicas do AEH, corroborando a construção de conhecimento dos profissionais envolvidos no diagnóstico e tratamento da patologia.

Introdução: Casos de infecção pelo coronavírus surgiram em 2019 e fatores de risco podem conduzir complicações, entre elas, a coinfecção viral podendo comprometer a resposta imunológica e interferir no prognóstico. Objetivos: Analisar estudos sobre coinfecção viral na COVID-19, avaliando prevalência e correlação com seu prognóstico. Métodos: Foram realizadas buscas em bases de dados utilizando os descritores: SARS-COV 2, coinfecção, vírus, coronavírus, e COVID-19. Resultados: Foram selecionados 12 artigos com os seguintes vírus: influenza, HIV e herpes. Apesar da coinfecção com influenza ser pouco prevalente, seu reconhecimento permitiu compreender diferentes manifestações clínicas e tratamento adequado. Já a coinfecção com HIV revelou que pacientes com AIDS não tratada tiveram pior prognóstico. Por fim, a coinfecção com herpes resultou em reativação, com os seguintes tipos associados: HSV-1, HSV-3, EBV, CMV e HHV-6. Conclusão: Não há evidências científicas suficientes para afirmar que a coinfecção com SARS-COV 2 com outros vírus traz pior prognóstico para COVID-19, sendo necessários mais estudos sobre tais interações.