Prenatal repair of gastroschisis using partial carbon dioxide insufflation fetoscopy: lessons learned.

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.

Effects of High-Intensity Interval Training on Central Blood Pressure: A Systematic Review and Meta-Analysis. / Efeitos do Treinamento Intervalado de Alta Intensidade sobre a Pressão Arterial Central: Uma Revisão Sistemática e Metanálise.

Central blood pressure (cBP) is considered an independent predictor of organ damage, cardiovascular events and all-cause mortality. Evidence has shown that high intensity interval training (HIIT) is superior to moderate-intensity continuous training (MICT) for improving cardiorespiratory fitness and vascular function. However, the effects of these aerobic training modalities on cBP have not yet been properly reviewed.This meta-analysis aims to investigate to effects of HIIT versus MICT on cBP.We conducted a meta-analysis of randomized controlled trials that compared HIIT versus MICT on cBP. Primary outcomes were measures of central systolic blood pressure (cSBP) and central diastolic blood pressure (cDBP). Peripheral systolic blood pressure (pSBP) and diastolic blood pressure (pDBP), pulse wave velocity (PWV) and maximal oxygen uptake (VO2max) were analyzed as second outcomes. Meta-analysis of mean differences (MD) was conducted using the random effects model.Our study included 163 patients enrolled in six trials. We found that HIIT was superior to MICT in reducing the cSBP (MD = -3.12 mmHg, 95% CI: -4.75 to -1.50, p = 0.0002) and SBP (MD = -2.67 mmHg, 95% CI: -5.18 to -0.16, p = 0.04), and increasing VO2max(MD = 2.49 mL/kg/min, 95% CI: 1.25 to 3.73, p = 0.001). However, no significant differences were reported for cDBP, DBP and PWV.HIIT was superior to MICT in reducing the cSBP, which suggests its potential role as a non-pharmacological therapy for high blood pressure.

A pressão arterial central (PAc) é considerada um preditor independente de lesão de órgão, eventos cardiovasculares e mortalidade por todas as causas. Evidências mostram que o treino intervalado de alta intensidade (HIIT) é superior ao treino contínuo de intensidade moderada (MICT) na melhoria da aptidão cardiorrespiratória e da função vascular. No entanto, os efeitos dessas modalidades de treino aeróbico sobre a PAc não foram propriamente revisados. Esta metanálise tem como objetivo investigar os efeitos do HIIT versus MICT sobre a PAc.Conduzimos uma metanálise de ensaios controlados randomizados que compararam HIIT versus MICT sobre a PAc. Os desfechos primários foram Pressão Arterial Sistólica (PAS) central (PASc) e Pressão Arterial Diastólica central (PADc). A PAS periférica (PASp), a PAD periférica (PADp), a Velocidade de Onda de Pulso (VOP) e a captação máxima de oxigênio (VO2max) foram analisadas como desfechos secundários. A metanálise das diferenças médias (DM) foi conduzida usando modelos de efeitos aleatórios.Nosso estudo incluiu 163 pacientes recrutados em seis ensaios. Encontramos que HIIT foi superior ao MICT em reduzir PASc (DM = -3,12 mmHg, IC95% -4,75 ­ 1,50, p = 0,0002) e PAS (DM = -2,67 mmHg, IC95% -5,18 ­ -0,16, p = 0,04) e aumentar VO2max (DM = 2,49 mL/Kg/min, IC95% 1,25 ­ 3,73, p = 0,001). No entanto, não foram relatadas diferenças quanto à PADc, PAD ou VOP. O HIIT foi superior ao MICT em reduzir PASc, sugerindo seu potencial papel como uma terapia não farmacológica para a pressão arterial elevada.

Prenatal repair of gastroschisis using partial carbon dioxide insufflation fetoscopy: lessons learned

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.

Efeitos do Treinamento Intervalado de Alta Intensidade sobre a Pressão Arterial Central: Uma Revisão Sistemática e Metanálise / Effects of High-Intensity Interval Training on Central Blood Pressure: A Systematic Review and Meta-Analysis

Resumo A pressão arterial central (PAc) é considerada um preditor independente de lesão de órgão, eventos cardiovasculares e mortalidade por todas as causas. Evidências mostram que o treino intervalado de alta intensidade (HIIT) é superior ao treino contínuo de intensidade moderada (MICT) na melhoria da aptidão cardiorrespiratória e da função vascular. No entanto, os efeitos dessas modalidades de treino aeróbico sobre a PAc não foram propriamente revisados. Esta metanálise tem como objetivo investigar os efeitos do HIIT versus MICT sobre a PAc.Conduzimos uma metanálise de ensaios controlados randomizados que compararam HIIT versus MICT sobre a PAc. Os desfechos primários foram Pressão Arterial Sistólica (PAS) central (PASc) e Pressão Arterial Diastólica central (PADc). A PAS periférica (PASp), a PAD periférica (PADp), a Velocidade de Onda de Pulso (VOP) e a captação máxima de oxigênio (VO2max) foram analisadas como desfechos secundários. A metanálise das diferenças médias (DM) foi conduzida usando modelos de efeitos aleatórios.Nosso estudo incluiu 163 pacientes recrutados em seis ensaios. Encontramos que HIIT foi superior ao MICT em reduzir PASc (DM = -3,12 mmHg, IC95% -4,75 - 1,50, p = 0,0002) e PAS (DM = -2,67 mmHg, IC95% -5,18 - -0,16, p = 0,04) e aumentar VO2max (DM = 2,49 mL/Kg/min, IC95% 1,25 - 3,73, p = 0,001). No entanto, não foram relatadas diferenças quanto à PADc, PAD ou VOP. O HIIT foi superior ao MICT em reduzir PASc, sugerindo seu potencial papel como uma terapia não farmacológica para a pressão arterial elevada.

Abstract Central blood pressure (cBP) is considered an independent predictor of organ damage, cardiovascular events and all-cause mortality. Evidence has shown that high intensity interval training (HIIT) is superior to moderate-intensity continuous training (MICT) for improving cardiorespiratory fitness and vascular function. However, the effects of these aerobic training modalities on cBP have not yet been properly reviewed.This meta-analysis aims to investigate to effects of HIIT versus MICT on cBP.We conducted a meta-analysis of randomized controlled trials that compared HIIT versus MICT on cBP. Primary outcomes were measures of central systolic blood pressure (cSBP) and central diastolic blood pressure (cDBP). Peripheral systolic blood pressure (pSBP) and diastolic blood pressure (pDBP), pulse wave velocity (PWV) and maximal oxygen uptake (VO2max) were analyzed as second outcomes. Meta-analysis of mean differences (MD) was conducted using the random effects model.Our study included 163 patients enrolled in six trials. We found that HIIT was superior to MICT in reducing the cSBP (MD = -3.12 mmHg, 95% CI: -4.75 to -1.50, p = 0.0002) and SBP (MD = -2.67 mmHg, 95% CI: -5.18 to -0.16, p = 0.04), and increasing VO2max(MD = 2.49 mL/kg/min, 95% CI: 1.25 to 3.73, p = 0.001). However, no significant differences were reported for cDBP, DBP and PWV.HIIT was superior to MICT in reducing the cSBP, which suggests its potential role as a non-pharmacological therapy for high blood pressure.

Effects of exercise modality and intensity on the CD4 count in people with HIV: a systematic review and meta-analysis.

The purpose of this study was to assess the effect of training modality and exercise intensity on the modulation of lymphocytes CD4 count in people living with HIV (PLWH). A search for randomised controlled trials was performed using five databases (PubMed/Medline, Cochrane, LILACS, Scielo and CAPES). Meta-analyses of mean differences (MD) were conducted using a random-effects model to compare the effects of training modality and intensity on CD4 count. The CD4 count comparing physical training vs. control group (MD of CD4 was 54.58 cell/ml³ [CI 95% 15.58-93.59], p =< 0.01). In according to the subgroup analysis, only aerobic exercise has proved to have a significant effect on CD4 (MD 79.91 cell/ml³ [CI 95% 19.30-140.52], p =< 0.01). When exercise intensities were stratified, only intense training proved to have a significant effect on CD4 (MD 64.87 cell/ml³ [CI 95% 15.79-113.95], p =< 0.01). In meta-regression analysis showed that the aerobic training, as well, high the intensity training were predictors significant to the improvement of CD4 (p =< 0.01). Exercise training is an important strategy to assist in the treatment of PLWH. The aerobic training modality and the high intensity training were able to promote improve the modulation of CD4 count chronically in PLWH.

Effects of table tennis practice on balance and physical fitness in the elderly / Efeitos da prática de tênis de mesa no equilíbrio e aptidão física em idosos

ABSTRACT The Table Tennis game does not involve large displacements by the practitioner in the environment, a characteristic that can promote greater safety for the elderly in locomotor terms. In addition, it needs coordination, agility, speed of reaction, dynamic balance, which have been the focus of current recommendations of physical activity for the health of adults and the elderly. The aim of this study is to investigate the effects of table tennis practice on physical and functional fitness in the elderly. This quasi-experimental research with a parallel and controlled design. The sample consisted of 16 elderly people, allocated 8 in the experimental group (EG) and 8 in the control group (CG). The research lasted 18 weeks, with 2 weeks of evaluation (initial and final) and 16 weeks of intervention. Physical fitness assessments were carried out using the agility and balance and functional fitness tests. In the intra-group comparison (pre-post intervention), EG showed a significant difference for the variable agility (pre: 15.6 ± 1.2 s; post: 14.7 ± 0.7 s). Also, the EG showed a reduction in Area (pre: 11.00±3.32 cm2; post: 6.52±3.06 cm2), AP Amplitude (pre: 4.92±2.77 cm; post: 3.28±0.58 cm) and ML speed (pre: 2.77±1.07 cm/s; post: 2.31±1.03 cm/s) in the Tandem posture with eyes open. Our findings highlight the importance of a Table Tennis program, administered twice a week and consisted of low to moderate intensity activities, to promote a beneficial effect on the agility and balance of physically active elderly people.

RESUMO O jogo de Tênis de Mesa não envolve grandes deslocamentos do praticante no ambiente, característica que pode promover maior segurança ao idoso em termos locomotores. Além disso, precisa de coordenação, agilidade, velocidade de reação, equilíbrio dinâmico, que têm sido foco das atuais recomendações de atividade física para a saúde de adultos e idosos. O objetivo deste estudo é investigar os efeitos da prática de tênis de mesa na aptidão física e funcional de idosos. Esta pesquisa apresenta delineamento quase experimental com um desenho paralelo e controlado. A amostra foi composta por 16 idosos, alocados 8 no grupo experimental (GE) e 8 no grupo controle (GC). A pesquisa teve duração de 18 semanas, sendo 2 semanas de avaliação (inicial e final) e 16 semanas de intervenção. As avaliações da aptidão física foram realizadas por meio dos testes de agilidade e equilíbrio e aptidão funcional. Na comparação intragrupo (pré-pós intervenção), o GE apresentou diferença significativa para a variável agilidade (pré: 15,6 ± 1,2 s; pós: 14,7 ± 0,7s). Além disso, o GE apresentou redução na Área (pré: 11,00±3,32 cm2; pós: 6,52±3,06 cm2), Amplitude AP (pré: 4,92±2,77 cm; pós: 3,28±0,58 cm) e velocidade ML (pré: 2,77±1,07 cm/s; pós: 2,31±1,03 cm/s) na postura Tandem com os olhos abertos. Nossos achados destacam a importância de um programa de Tênis de Mesa, administrado duas vezes por semana e composto por atividades de baixa a moderada intensidade, para promover um efeito benéfico na agilidade e equilíbrio de idosos fisicamente ativos.

P-glycoprotein and multidrug resistance-associated protein-1 expression in acute myeloid leukemia: Biological and prognosis implications.

BACKGROUND: Despite the advances in the cure rate for acute myeloid leukemia (AML), a considerable number of patients die from the disease due to the occurrence of multidrug resistance (MDR). Overexpression of the transporter proteins, such as P-glycoprotein (Pgp) and multidrug resistance-associated protein (MRP), confers resistance to the treatment of these leukemias. METHODS: To analyze the expression of the Pgp and MRP1 in patients with AML and determine their correlation between expression and demographic, clinical, and laboratorial variables, bone marrow and peripheral blood samples from 346 patients with a diagnosis of AML were assessed for the expression of Pgp and MRP1 by flow cytometry. RESULTS: The expression of Pgp and MRP1 was found in 111 (32.1%) and 133 (38.4%) patients, respectively, with greater prevalence in older patients and lower in children, while also observing a high incidence in patients with refractory, recurrence, and secondary disease in comparison with the cases of de novo AML. Regarding the laboratory findings, we observed an association between the expression of Pgp and MRP1 and CD34, CD7, and also M7, M5a, and M2-AML of French-American-British classification. CONCLUSIONS: The results showed that the detection of MDR phenotype by flow cytometry can be a molecular marker for prognosis of patients with AML.

The prevalence of Active Play in Brazilian children and adolescents: a systematic review / Prevalência de Active Play em crianças e adolescentes brasileiros: uma revisão sistemática

Abstract A systematic review of the prevalence of Active Play in Brazilian children and adolescents was performed. Only fully available scientific papers that measured Active Play or leisure time physical activity independently from other types of physical activity in Brazilian children and/or adolescents were considered for inclusion. The search for potential articles was performed on the following electronic databases: Pubmed/Medline, Web of Science, Bireme, Scielo and Scopus. Initially, 63 papers met the eligibility criteria. However, after deeply analyzed, seven studies remained and were included in the present review. The overall prevalence of Active Play was 36%, in which varied from 27.2% to 79.3%. Boys presented a prevalence of 47%, ranging from 39,1% to 79.9%, while the prevalence in girls reached 26%, varying from 13.9% to 78.7%. Although the prevalence of Active Play in Brazil in not satisfactory, the potential to present a reliable data regarding this theme should be highlighted. In agreement with some other studies, boys presented a higher prevalence of physical activity than girls. Also, any socioeconomic pattern regarding the prevalence of Active Play in children and adolescents was observed when the results from this study were compared to other studies developed in other countries from several socioeconomic status. The Active Play should be further investigated individually, as a pivotal component of physical activity, as well as its impact on physical inactivity-related comorbidities.

Resumo Foi realizada Revisão sistemática acerca da prevalência de brincadeiras ativas em crianças e adolescentes brasileiros. Apenas trabalhos científicos totalmente disponíveis que mediram a atividade física praticada como brincadeira ou lazer em crianças e/ou adolescentes brasileiros foram considerados para inclusão. A busca por artigos foi realizada nas seguintes bases de dados eletrônicas: PubMed/Medline, Web of Science, Bireme, Scielo e Scopus. Inicialmente, 63 artigos preencheram os critérios de elegibilidade, e após análise minuciosa, sete estudos foram incluídos na presente revisão. A prevalência geral de brincadeiras ativas foi de 36%, variando de 27,2% a 79,3%. Os meninos apresentaram prevalência de 47%, variando de 39,1% a 79,9%, enquanto a prevalência nas meninas chegou a 26%, variando de 13,9% a78,7%. Embora no Brasil essa prevalência não seja satisfatória, destaca-se o potencial de apresentar dados relevantes sobre esta temática. Corroborando com outros estudos, os meninos apresentaram maior prevalência de atividade física como brincadeira ou lazer que as meninas. Além disso, não foi encontrado um padrão socioeconômico em relação à prevalência de brincadeiras ativas em crianças e adolescentes quando os resultados deste estudo foram comparados com outros estudos desenvolvidos em outros países de diferentes condições socioeconômicas. Portanto, brincadeiras ativas devem ser investigadas individualmente, como um componente essencial da atividade física, bem como seu impacto nas comorbidades relacionadas à inatividade física.

Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.

BACKGROUND: Although more than 14 loci may be involved in the development of nonsyndromic cleft lip and palate (NSCLP), the etiology has not been fully elucidated due to genetic and environmental risk factor interactions. Despite advances in identifying genes associated with the NSCLP development using traditional genetic mapping strategies of candidate genes, genome-wide studies, and epidemiologic and linkage analysis, microarray techniques have become important complementary tools in the search for potential causative oral clefts genes in genetic studies. Microarray hybridization enables scanning of the whole genome and detecting copy number variants (CNVs). Although common benign CNVs are often smaller, with sizes smaller than 20 kb, here we reveal small exonic CNVs based on the importance of the encompassed genes in cleft lip and palate phenotype. METHODS: Microarray hybridization analysis was performed in 15 individuals with NSCLP. RESULTS: We identified 11 exonic CNVs affecting at least one exon of the candidate genes. Thirteen candidate genes (COL11A1-1p21; IRF6-1q32.3; MSX1-4p16.2; TERT-5p15.33; MIR4457-5p15.33; CLPTM1L-5p15.33; ESR1-6q25.1; GLI3-7p13; FGFR-8p11.23; TBX1-22q11.21; OFD-Xp22; PHF8-Xp11.22; and FLNA-Xq28) overlapped with the CNVs identified. CONCLUSIONS: Considering the importance to NSCLP, the microdeletions that encompass MSX1, microduplications over TERT, MIR4457, CLPTM1L, and microduplication of PHF8 have been identified as small CNVs related to sequence variants associated with oral clefts susceptibility. Our findings represent a preliminary study on the clinical significance of small CNVs and their relationship with genes implicated in NSCLP.

Novel multidisciplinary approach to monitor and treat fetuses with gastroschisis using the Svetliza Reducibility Index and the EXIT-like procedure / Nova abordagem multidisciplinar para monitorizar e tratar fetos com gastrosquise utilizando o Svetliza Reducibility Index e o procedimento EXIT-like

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: 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.

Novel multidisciplinary approach to monitor and treat fetuses with gastroschisis using the Svetliza Reducibility Index and the EXIT-like procedure.

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.

Intrauterine thrombosis of umbilical artery - case report / Trombose intrauterina de artéria umbilical - relato de caso

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.

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.

Intrauterine thrombosis of umbilical artery - case report.

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.

Avaliação dos parâmetros de imagens de massas anexiais pélvicas em tele-ecografia / Evaluation of image parameters of pelvic adnexal masses in tele-echography

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.

No association between SNP309 promoter polymorphism in the MDM2 and cervical cancer in a study from northeastern Brazil.

BACKGROUND: A functional variant in the MDM2 promoter (a T/G substitution, SNP309) was found to be associated with increased expression of MDM2 gene products and at significantly earlier age onset of tumors in both hereditary Li-Fraumeni individuals and sporadic cancer patients. We tested the hypothesis that this functional variant was associated with either risk or early age diagnosis of cervical cancer in a Brazilian population. METHODS: A primer-introduced restriction analysis PCR assay was used to genotype the MDM2 SNP309 of 72 cervical carcinoma patients and 100 healthy women. RESULTS: No statistically significant association was observed between SNP309 and cervical cancer. We did not find allele or genotype frequency differences between the group of patients with cancer diagnosis at an early age (younger than 40 years old) and the group of older patients. CONCLUSIONS: Our findings suggest that SNP309 MDM2 may not be a risk factor for cervical cancer.

Biomarcadores de suscetibilidade à endometriose / Biomarkers of susceptibility to endometriosis

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 por cento para o gene GSTT1 e de 44 por cento 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.