ABSTRACT We report the long-term outcomes of a case of prenatal gastroschisis repair using a fully percutaneous fetoscopic approach with partial carbon dioxide insufflation. Surgery was performed as an experimental procedure before the scheduled elective birth. The fetal intestines were successfully returned to the abdominal cavity without any fetal or maternal complications. Ultrasonography performed 24 hours later revealed bowel peristalsis and no signs of fetal distress. After 48 hours, partial extrusion of the small bowel was observed, and the fetus was delivered. Gastroschisis repair was immediately performed upon delivery using the EXIT-like procedure as per our institutional protocol. The newborn did not require assisted mechanical ventilation, was discharged at 14 days of age and was then exclusively breastfed. At 3-year follow-up, the patient had no associated gastroschisis-related complications. This is the first case of prenatal repair of gastroschisis, which provides baseline knowledge for future researchers on the potential hurdles and management of prenatal repair.

BACKGROUND Zika virus (ZIKV) is an emerging arbovirus associated with foetal malformations and neurological complications. The infection is usually associated with mild symptoms. The comparison between the allelic frequency of polymorphic genes in symptomatic infected individuals in the population can clarify the pathogenic mechanisms of ZIKV. During ZIKV infection, cytokines are produced and natural killer (NK) cells are recruited, whose activation depends on signaling pathways activated by specific receptors, such as killer cell immunoglobulin-like receptors (KIR). These molecules interact with human leukocyte antigen (HLA) class I ligands and are encoded by polymorphic genes. OBJECTIVES This study aimed to evaluate the frequency of allelic variants of the genes encoding the KIR receptors and their HLA class I ligands in 139 symptomatic ZIKV-patients and 170 controls negative for the virus, and to evaluate the role of these variants for ZIKV susceptibility. METHODS KIR and HLA class I genes were genotyped using the polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) technique. FINDINGS No significant differences in the frequency distribution of KIRs and KIR-HLA in patients compared to controls were observed. MAIN CONCLUSIONS KIR and its HLA ligands might play a minor role in ZIKV infection in the south and southeast Brazilian individuals.

RESUMO Objetivo: Descrever a experiência inicial com a nova técnica cirúrgica EXIT-like para acompanhamento e correção de gastrosquise no “minuto zero”. Métodos: Foram avaliados onze fetos com diagnóstico pré-natal de gastrosquise. O Svetliza Reducibility Index foi usado prospectivamente para avaliar cinco casos, e seis foram utilizados como controles. O índice foi calculado dividindo-se o diâmetro do defeito da parede abdominal pela maior alça intestinal que coubesse neste espaço. O procedimento EXIT-like compreendeu cesárea programada, analgesia fetal e redução da víscera herniada para a cavidade abdominal, antes da deglutição de ar pelo recém- nascido. Não são necessários anestesia geral e nem relaxamento uterino. A redução da víscera exteriorizada é realizada enquanto se mantém a circulação do cordão umbilical. Resultados: Quatro casos, dos cinco, foram submetidos ao EXIT-like. A correção foi completa em três casos. Os demais casos foram partos a termo planejados, e a correção do defeito foi feita com Silo. O tempo médio de redução da víscera foi de 5,0 minutos no grupo submetido ao procedimento EXITlike, e a oximetria foi mantida dentro dos valores de variação normal em todos os casos. No período perinatal, foram observadas diferenças estatisticamente significativas no tempo de ventilação mecânica (p=0,0169), duração da nutrição parenteral (p = 0,0104) e da nutrição enteral (p=0,0294). Conclusão: O Svetliza Reducibility Index e o procedimento EXIT-like podem ser novas opções para acompanhar e tratar gastroquise, com desfecho neonatal significativamente melhor em nossa unidade. Novos estudos randomizados são necessários para avaliar esta nova abordagem.

ABSTRACT Objective: To describe our initial experience with a novel approach to follow-up and treat gastroschisis in “zero minute” using the EXITlike procedure. Methods: Eleven fetuses with prenatal diagnosis of gastroschisis were evaluated. The Svetliza Reductibility Index was used to prospectively evaluate five cases, and six cases were used as historical controls. The Svetliza Reductibility Index consisted in dividing the real abdominal wall defect diameter by the larger intestinal loop to be fitted in such space. The EXIT-like procedure consists in planned cesarean section, fetal analgesia and return of the herniated viscera to the abdominal cavity before the baby can fill the intestines with air. No general anesthesia or uterine relaxation is needed. Exteriorized viscera reduction is performed while umbilical cord circulation is maintained. Results: Four of the five cases were performed with the EXIT-like procedure. Successful complete closure was achieved in three infants. The other cases were planned deliveries at term and treated by construction of a Silo. The average time to return the viscera in EXIT-like Group was 5.0 minutes, and, in all cases, oximetry was maintained within normal ranges. In the perinatal period, there were significant statistical differences in ventilation days required (p = 0.0169), duration of parenteral nutrition (p=0.0104) and duration of enteral feed (p=0.0294). Conclusion: The Svetliza Reductibility Index and EXIT-like procedure could be new options to follow and treat gastroschisis, with significantly improved neonatal outcome in our unit. Further randomized studies are needed to evaluate this novel approach.

Resumo Objetivo Identificar quais métodos utilizados na avaliação da reserva ovariana são excludentes ou complementares na identificação da melhor resposta ao desenvolvimento folicular. Métodos Estudo retrospectivo de coorte, que envolveu pacientes em tratamento de reprodução assistida no Instituto de Medicina Reprodutiva de abril de 2009 a julho de 2014. Foram avaliadas idade, exames bioquímicos e ecografia. Os dados foram analisados na predição do desenvolvimento folicular e nas suas relações entre si, utilizando para análise estatística o programa Statistical Package for Social Sciences. Resultados Dos 293 casais incluídos, 50,2% apresentavam infertilidade por fator ovariano. Considerando a idade como principal variável, foi observada uma correlação significativa e negativa com volume de ambos ovários (ovário direito, r = 0,21; ovário esquerdo, r =0,22; ambos p< 0,0001), e com contagem de folículos antrais (ovário direito, r =0,38; ovário esquerdo, r =0,47; ambos p< 0,0001). Considerando a contagem de folículos antrais como a variável principal, foi observada uma correlação significativa e positiva com o total de oócitos recrutados. Quando correlacionamos a contagem de folículos antrais com os folículos recrutados maiores do que 18 mm, observamos que, com um ponto de corte de 12 folículos antrais, tem-se um valor preditivo positivo de 99%, e uma área da curva ROC de 0,76. Conclusões Concluímos com nosso trabalho que a idade e a contagem de folículos antrais são eficientes preditores da resposta ovariana em ciclos de reprodução assistida. O volume ovariano, assim como a dosagem do hormônio anti-mulleriano, parecem ser marcadores adequados de reserva ovariana.

Abstract Purpose To identify which methods used in the assessment of the ovarian reserve are exclusive or complementary to identify the best response to follicle development. Methods Retrospective cohort study, involving patients undergoing assisted reproduction treatment at the Instituto de Medicina Reprodutiva e Fetal, from April 2009 to July 2014. Age, biochemical tests, and ultrasound were assessed. The data were analyzed to predict the follicular development and the relation between them, using, for statistical analysis, Statistical Package for Social Sciences software. Results Out of the 293 couples included, 50.2% presented infertility by ovarian factor. Considering the age as the main variable, a significant negative correlation with the volume of both ovaries was observed (right ovary, r = 0.21; left ovary, r =0.22; both p< 0.0001), and with the antral follicle count (right ovary, r =0.38; left ovary, r =0.47; both p< 0.0001). Considering the antral follicle count as the main variable, a significant positive correlation with the total recruited oocytes was observed. When we correlated the antral follicle count with the recruited follicles larger than 18 mm, we observed that, with a cutoff of 12 antral follicles, there is a positive predictive value of 99%, and an area under the ROC curve of 0.76. Conclusion We concluded from our study that age and antral follicle count are effective predictors of ovarian response in cycles of assisted reproduction. The ovarian volume, as well as the anti-Müllerian hormone dosage, seem to be adequate markers of the ovarian reserve.

RESUMO: CONTEXTO: A trombose do cordão umbilical está relacionada com o aumento da morbimortalidade fetal e perinatal. É geralmente associada a alterações do cordão umbilical que levam à compressão mecânica com consequente ectasia vascular. Seu correto diagnóstico e manejo clínico é um desafio que não está ainda bem esclarecido. RELATO DE CASO: Neste relato se descreve caso de trombose da artéria umbilical de ocorrência na segunda metade da gravidez associada a cordão umbilical longo, fino, excessivamente retorcido, associado a feto com restrição de crescimento intrauterino grave. São descritos seus achados clínicos e histopatológicos correlacionados. CONCLUSÃO: Este relato de caso reforça a dificuldade diagnóstica e de manejo clínico em alteração da vida intrauterina com grande possibilidade de complicações perinatais.

ABSTRACT: CONTEXT: Umbilical cord thrombosis is related to greater fetal and perinatal morbidity and mortality. It is usually associated with umbilical cord abnormalities that lead to mechanical compression with consequent vascular ectasia. Its correct diagnosis and clinical management remains a challenge that has not yet been resolved. CASE REPORT: This study reports a case of umbilical artery thrombosis that occurred in the second half of a pregnancy. The umbilical cord was long, thin and overly twisted and the fetus presented severe intrauterine growth restriction. The clinical and histopathological findings from this case are described. CONCLUSIONS: This case report emphasizes the difficulty in diagnosing and clinically managing abnormalities of intrauterine life with a high chance of perinatal complications.

OBJETIVO: Avaliar os parâmetros ultrassonográficos relacionados às características morfológicas de massas anexiais pélvicas por meio da obtenção de imagens bidimensionais por um observador presencial, encaminhadas eletronicamente (via tele-ecografia) nos modos estático e dinâmico a observadores não presenciais (à distância) para análises comparativas inter e intraobservadores a fim da validação de uma segunda opinião. MÉTODOS: No período de março a agosto de 2010 foram selecionadas 50 pacientes que apresentavam visualização de massa anexial pélvica no exame ecográfico. Elas foram submetidas ao exame ultrassonográfico por vias abdominal e endovaginal. As imagens foram capturadas nos modos estático e dinâmico, encaminhadas eletronicamente para avaliação de dois examinadores não presenciais e avaliadas de acordo com parâmetros morfológicos ultrassonográficos previamente determinados. RESULTADOS: Os avaliadores não presenciais nas modalidades estática e dinâmica obtiveram concordância quase perfeita para todos os parâmetros morfológicos com valores de Kappa entre 0,6 e 0,8. Não houve diferença entre as modalidades empregadas, exceto para o parâmetro morfológico projeção papilar na modalidade estática, em que a concordância foi quase perfeita (0,8) enquanto na modalidade dinâmica foi substancial (0,6). CONCLUSÕES: Os parâmetros ultrassonográficos das características de massas anexiais pélvicas encaminhadas por tele-ecografia são passíveis de serem validadas para emissão de uma segunda opinião. Não houve diferenças significativas quanto à metodologia empregada na emissão das imagens tele-ecográficas (estática ou dinâmica) na caracterização da composição das massas anexiais pélvicas.

PURPOSE: To evaluate the sonographic parameters related to morphological characteristics of pelvic adnexal masses by obtaining two-dimensional images by an observer presence, forwarded electronically (via tele-ultrasound) in static and dynamic modes observers do not face (distance) for comparative analyzes inter intraobserver and to the validation of a second opinion. METHODS: From March to August 2010 were selected 50 patients with adnexal mass viewing of the pelvic ultrasound. They were subjected to ultrasound for abdominal and transvaginal routes. The images were captured in static and dynamic modes, electronically forwarded for evaluation of non-presence and two examiners evaluated according to morphological ultrasonographic parameters previously determined. RESULTS: The evaluators did not face in static and dynamic modes obtained almost perfect agreement for all morphological parameters with Kappa values between 0.6 and 0.8. There was no difference between the methods employed, except for the morphological parameter papillary projection in the static mode , in which the agreement was almost perfect ( 0.8 ) while in dynamic mode was substantial (0.6). CONCLUSIONS: The sonographic parameters of the features of adnexal masses pelvic sent by tele-ultrasound are capable of being validated for issuing a second opinion. There were no significant differences in the methodology used in the issue of tele-ultrasound images (static or dynamic) to characterize the composition of pelvic adnexal masses.

OBJECTIVE: Adenosine deaminase acts on adenosine and deoxyadenosine metabolism and modulates the immune response. The adenosine deaminase G22A polymorphism (20q.11.33) influences the level of adenosine deaminase enzyme expression, which seems to play a key role in maintaining pregnancy. The adenosine deaminase 2 phenotype has been associated with a protective effect against recurrent spontaneous abortions in European Caucasian women. The aim of this study was to investigate whether the G22A polymorphism of the adenosine deaminase gene is associated with recurrent spontaneous abortions in Brazilian women. METHODS: A total of 311 women were recruited to form two groups: G1, with a history of recurrent spontaneous abortions (N = 129), and G2, without a history of abortions (N = 182). Genomic DNA was extracted from peripheral blood with a commercial kit and PCR-RFLP analysis was used to identify the G22A genetic polymorphism. Fisher's exact test and odds ratio values were used to compare the proportions of adenosine deaminase genotypes and alleles between women with and without a history of recurrent spontaneous abortion (p<0.05). The differences between mean values for categorical data were calculated using unpaired t tests. The Hardy-Weinberg equilibrium was assessed with a chi-square test. RESULTS: Statistically significant differences were identified for the frequencies of adenosine deaminase genotypes and alleles between the G1 and G2 groups when adjusted for maternal age. CONCLUSIONS:The results suggest that the adenosine deaminase *2 allele is associated with a low risk for recurrent spontaneous abortions, but this association is dependent on older age.

Infectious and parasitic diseases affecting women during their reproductive age may result in vertical transmission. The aim of this study was to determine the seroprevalence for TORSCH among pregnant women receiving care at a university hospital. Records of 574 pregnant women who received medical attention from January 2006 to December 2007 were assessed. The mean age was 27.2 ± 6.5 years ranging from 13 to 44. The results of the immunodiagnostic tests were: 62.0% (345/556) for IgG and 3.4% (19/556) for IgM anti-T. gondii; 93.1% (433/465) for IgG and 0.6% (3/465) for IgM anti-rubella; 0.9% (5/561) for VDRL; 1.8% (10/554) for HBsAg; 0.7% (4/545) for anti-HCV and 2.1% (11/531) for HIV. In conclusion, the results of immunodiagnostic tests for the TORSCH panel among pregnant women attending a perinatal service of a university hospital are in agreement with those reported by previous studies and by governmental sources.

OBJETIVOS: verificar as freqüências dos genótipos nulos para os genes GSTT1 e GSTM1, assim como as freqüências do alelo polimórfico do gene CYP1A1 em um grupo de mulheres com endometriose, e comparar essas freqüências com aquelas observadas em um grupo que não apresenta a doença (controle), visando uma possível identificação de biomarcadores de suscetibilidade à endometriose. MÉTODOS: foram incluídas 50 mulheres com sinais clínicos sugestivos de endometriose e que foram submetidas à videolaparoscopia e biópsia das lesões avaliadas histologicamente. A endometriose foi confirmada em 25 mulheres, consideradas como o grupo caso, e resultado negativo foi observado nas outras 25 (grupo controle). Os genótipos nulos para os genes GSTT1 e GSTM1 foram avaliados pela reação em cadeia da polimerase (PCR) multiplex. A investigação do alelo polimórfico do gene CYP1A1 foi realizada por meio da técnica de PCR-RFLP (polimorfismos de comprimento de fragmentos de restrição). Para a análise estatística utilizou-se o teste exato de Fisher. RESULTADOS: em ambos os grupos, as freqüências dos polimorfismos de deleção apresentaram valores de 16% para o gene GSTT1 e de 44% para o gene GSTM1. Portanto, os resultados não mostraram diferenças na distribuição dos genótipos nulos GSTT1 e GSTM1 entre os grupos estudados. A diferença da freqüência alélica para o alelo m1 do gene CYP1A1, embora não significante, foi mais elevada nas mulheres com endometriose (0,22) quando comparada àquelas do grupo controle (0,14). CONCLUSÃO: os resultados não mostraram uma associação entre os polimorfismos avaliados e o diagnóstico de endometriose.

OBJECTIVE: to determine GSTT1 and GSTM1 null genotype frequencies as well as CYP1A1 polymorphic allele frequencies in a group of women with endometriosis, and to compare these frequencies with those observed in a group without endometriosis (control), aiming at a possible identification of biomarkers of susceptibility to endometriosis. METHODS: a total of 50 women with suggestive clinical signs of endometriosis underwent videolaparoscopy and biopsies were evaluated histologically. Endometriosis was present in 25 women (case group). Negative results were found in 25 women (control group). GSTT1 and GSTM1 null genotypes were assessed by multiplex polymerase chain reaction (PCR). The investigation of the polymorphic allele of the gene CYP1A1 was performed by PCR-RFLP (restriction fragment length polymorphism). For statistical analysis, the Fisher exact test was used. RESULTS: in both groups, the deletion polymorphism frequencies presented values of 16% for the gene GSTT1 and of 44% for the gene GSTM1; therefore, the results did not show differences in the distribution of the GSTT1 and GSTM1 null genotypes among the studied groups. The allelic frequency for the m1 allele of the gene CYP1A1 was higher in the women with endometriosis (0.22), although not statistically significant, when compared to the control group (0.14). CONCLUSION: the results did not show an association between the evaluated polymorphisms and the endometriosis diagnosis.