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The significance of oxidative stress in the pathophysiology of male reproductive processes has been closely studied in the last two decades. Recently, it has become clear that oxidative stress can lead to numerous pathological conditions during female reproductive processes as well, contributing to the development of endometriosis, polycystic ovary syndrome and various forms of infertility. During pregnancy, physiological generation of reactive oxygen species (ROS) occurs in association with several developmental processes including oocyte maturation and implantation. An overproduction of ROS can lead to disturbances in fetal development and increases the risk for missed abortion, intrauterine growth restriction, pre-eclampsia, premature delivery and gestational diabetes. Our review focuses on the etiological role of the disrupted oxidant-antioxidant system during human gestation as it relates to adverse pregnancy outcomes.
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BACKGROUND: There are limited data available on the survival and early complications of preterm infants with less than 500 g birthweight. To estimate the outcomes for these infants, it is important for caregivers to be aware of perinatal factors that may affect survival. OBJECTIVES: We assessed the mortality and certain early complications of preterm infants born with less than 500 g in Hungary between 2006 and 2015. METHODS: We reviewed data of 486 infants from the database of the Hungarian Central Statistical Office and in parallel of 407 infants from the "NICU database." The study period was divided into two epochs: 2006-2010 and 2011-2015. RESULTS: The survival was 27.1% in the first epoch and 39.1% in the second epoch, and the incidence of early complications was slightly higher in the second epoch. In the surviving group (first and second epoch combined), gestational age (25.1 vs 23.7 weeks), birthweight (458 vs 447 g) antenatal steroid treatment (66.3% vs 52.3%), surfactant therapy (95.1% vs 84.3%), median Apgar scores (6 vs 3 and 8 vs 5 at 1 and 5 minutes, respectively) and proportion of caesarean delivery (89.3% versus 68.5%) were higher than in the non-surviving group (first and second epoch combined). The proportion of multiple births was lower in the surviving group (15.7% vs 33.4%). CONCLUSIONS: Survival of infants with less than 500 g improved between 2006-2010 and 2011-2015 in Hungary. The slightly higher occurrence of early complications might be associated with improving survival.
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Cesárea/estatística & dados numéricos , Glucocorticoides/uso terapêutico , Surfactantes Pulmonares/uso terapêutico , Taxa de Sobrevida/tendências , Adulto , Índice de Apgar , Displasia Broncopulmonar/epidemiologia , Hemorragia Cerebral Intraventricular/epidemiologia , Enterocolite Necrosante/epidemiologia , Feminino , Humanos , Hungria/epidemiologia , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Lactente Extremamente Prematuro , Recém-Nascido , Leucomalácia Periventricular/epidemiologia , Mortalidade/tendências , Prole de Múltiplos Nascimentos/estatística & dados numéricos , Gravidez , Cuidado Pré-Natal , Retinopatia da Prematuridade/epidemiologiaRESUMO
BACKGROUND In our previous study, some changes were presented in obstetric care and we studied the morbidity and mortality trends of infants with <500 grams birth weight. Several neonatal protocol changes occurred during the study period. The aim of this study was to analyze the changes in mortality and morbidity of premature infants in light of changing neonatal protocols. MATERIAL AND METHODS We performed a retrospective study of premature infants with <500 grams birth weight, born at our department between 2006 and 2015. We divided the study period into two 5-year epochs and compared mortality and morbidity rates. We calculated the duration of mechanical ventilation and non-invasive respiratory support, and also investigated the potential impact of the differences in clinical practice. RESULTS The survival rate was 30.8% during first epoch, which was significantly lower than the 70.4% survival rate during second epoch. There was no difference in the rate of complications between the 2 epochs. The total number of ventilator and non-invasive ventilation days was significantly lower in the second epoch. CONCLUSIONS We found significant differences in survival rates but no change in the incidence of morbidities between the 2 epochs. Therefore, although the number of neonates surviving with morbidities has increased, so did the number of those with intact survival. The increased survival of infants born with <500 grams birth weight is not associated with increased rate of morbidities. Protocol changes may have contributed to these findings; however, in a retrospective study it is not possible to separate the impact of individual changes.
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Recém-Nascido de muito Baixo Peso/fisiologia , Respiração Artificial/mortalidade , Insuficiência Respiratória/mortalidade , Peso ao Nascer , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Masculino , Morbidade , Respiração Artificial/tendências , Estudos Retrospectivos , Taxa de Sobrevida/tendênciasRESUMO
Placental vascular endothelial growth factor A (VEGF-A) gene and endoglin gene are both overexpressed in placental samples obtained from pregnancies with intrauterine growth restriction compared to normal pregnancies. In the background of these changes a mechanism can be supposed, in which the increased endoglin activity in intrauterine growth restriction (IUGR) leads to impaired placental circulation through an antioangiogenetic effect. This results in the development of placental vascular dysfunction and chronic fetal hypoxia. It is chronic hypoxia that turns on VEGF-A as a compensatory mechanism to improve fetal vascular blood supply by promoting placental blood vessel formation. Although the maternal serum placental growth factor (PlGF) level is a potential predictor for both IUGR and praeeclampsia, placental PlGF gene activity may be less of an active in the regulation of placental circulation in IUGR pregnancies during the later stages of gestation. Orv. Hetil., 2017, 158(16), 612-617.
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Retardo do Crescimento Fetal/metabolismo , Placenta/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Gravidez , Fator A de Crescimento do Endotélio Vascular/genéticaRESUMO
To describe gene expression patterns of the apoptotic regulatory genes Bcl and Bax in human uterine leiomyoma tissue. To investigate the relationship between alterations of gene expression patterns and several relevant clinical parameters. We obtained samples from 101 cases undergoing surgery for uterine leiomyoma for gene expression analysis of the Bcl-2 and Bax genes. Gene expression was quantified using RT-PCR technique. In the leiomyoma group, the Bcl-2 gene was significantly overexpressed compared with the control group although there was no such difference in the gene expression of Bax. Gene activity of Bcl-2 positively correlated with the tumor number in individual uterine leiomyoma cases. Although there was no significant correlation between the length of the cumulative lactation period before the development of uterine leiomyoma and Bcl-2 gene expression in the leiomyoma tissue, we observed a trend for a shorter cumulative lactation period to be associated with overexpression of the Bcl-2 gene. Overexpression of the antiapoptotic Bcl-2 gene appeared to be a factor in the development of uterine leiomyoma, whereas gene activity of the proapoptotic Bax gene did not seem to play a role in the process.
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Apoptose , Regulação Neoplásica da Expressão Gênica , Leiomioma/patologia , Proteínas Proto-Oncogênicas c-bcl-2/genética , Neoplasias Uterinas/patologia , Proteína X Associada a bcl-2/genética , Adulto , Feminino , Humanos , Leiomioma/cirurgia , Pessoa de Meia-Idade , Neoplasias Uterinas/cirurgiaRESUMO
INTRODUCTION: Traditional surgeries performed in cases of deep infiltrating endometriosis lead to impaired quality of life. AIM: To summarize the postoperative outcome and to compare the rate of postoperative complications after different therapeutic approaches applied in deep infiltrating endometriosis. METHOD: The authors analized the articles published between March 31, 2004 and March 31, 2015, in the database http://www.pubmed.org using the following keywords: endometriosis, deep infiltrating, nerve sparing, surgery. RESULTS: Non-nerve sparing surgery resulted in temporary urinary dysfunction in 19.1-38.5% of patients, while it occurred in 0.61-33.3% of patients after nerve-sparing surgery. Non-nerve sparing surgical technique resulted in an average of 121 days of need for self-catheretisation. When nerve-sparing surgeries were performed the duration of self-catheterisation varied between 7 to 39.8 days. After nerve sparing surgeries, permanent bladder dysfunction was not detected in any case. CONCLUSIONS: Because of the successful treatment of the patients symptoms and the lower postoperative complication rate, nerve-sparing surgical technique leads to a significant improvement of the quality of life.
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Endometriose/patologia , Endometriose/cirurgia , Procedimentos Cirúrgicos em Ginecologia/métodos , Tratamentos com Preservação do Órgão , Bexiga Urinária/inervação , Micção , Adulto , Feminino , Humanos , Cateterismo Uretral Intermitente/estatística & dados numéricos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Bexiga Urinária/fisiopatologiaRESUMO
Epigenetic factors are nowadays in the focus of scientific interest in medicine including obstetrics. The environment in utero and early neonatal life may induce a permanent response in the fetus and the newborn leading to enhanced susceptibility to later diseases. There is now growing evidence that the effects of developmental programming may also manifest themselves in the next generations without further suboptimal exposure. The so-called fetal programming may also highlight a tight connection between pathological conditions in pregnancy, environmental factors and the development of chronic diseases in adulthood. Investigation of epigenetic factors may yield new possibilities for the prevention of chronic diseases affecting a significant part of the population.
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Epigênese Genética , Complicações na Gravidez/genética , Gravidez/genética , Diabetes Gestacional/genética , Feminino , Retardo do Crescimento Fetal/genética , Predisposição Genética para Doença , Humanos , Placenta/fisiologia , Doenças Placentárias/genética , Pré-Eclâmpsia/genética , Gravidez/fisiologia , Fumar/genéticaRESUMO
Epigenetic effects influence the function of genes regulating the main physiological mechanisms. Some of these environmental factors may reduce or inhibit the function of these genes. The environmental effects on gene function may result in a change of the DNA structure leading to non-heritable phenotype changes. Epigenetic factors play an important etiological role in the development of numerous diseases in obstetrics and gynecology. Uterine fibroids probably have a complex etiological background including epigenetic mechanisms. The multifactorial aetiology of endometriosis suggests key roles for immunological and hormonal factors in the development of the diseases. These mechanisms are influenced by epigenetic factors, which may serve as therapeutic targets in the future. The possible in utero origin of polycystic ovary syndrome determines the main directions of research concerning epigenetic factors in the etiological background, with the hope of eventual prevention and/or treatment in the preconceptional period as well as during pregnancy care.
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Endometriose/genética , Epigênese Genética , Epigenômica/tendências , Leiomioma/genética , Síndrome do Ovário Policístico/genética , Cromatina/genética , Metilação de DNA , Feminino , Doenças dos Genitais Femininos/genética , Histonas/genética , Humanos , Gravidez , RNA não Traduzido/genéticaRESUMO
BACKGROUND/AIMS: We investigated insulin-like growth factor 2 (IGF-2) gene activity in human uterine fibroid tissue. Results of the genetic testing were correlated with clinical data. METHODS: We obtained samples from patients treated for uterine fibroid and from patients undergoing hysterectomy due to other indications (control group). The examined group (with fibroid) contained 101 cases, while the control group was similar with 110 patients. Gene expression values were determined using the standard PCR technique. Clinical data were available from the computer database of the department. RESULTS: IGF-2 gene expression was significantly higher in the fibroid group. There was no correlation between increase in gene activity and the number of tumors. History of previous uterine fibroid did not seem to predict IGF-2 gene activity in the current fibroid tumor tissue. IGF-2 gene expression did not correlate with cumulative duration of lactation following prior pregnancies. CONCLUSION: IGF-2 gene activity is significantly increased in leiomyoma tissue compared to normal myometrium. Familial aggregation of uterine fibroids is not significantly associated with increased IGF-2 gene activity; other genes may have a stronger etiological role. It appears that the genetic factors potentially important in the development of familiar uterine leiomyoma are not related to the IGF-2 gene.
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Fator de Crescimento Insulin-Like II/genética , Leiomioma/genética , Estudos de Casos e Controles , Primers do DNA/química , Feminino , Expressão Gênica/fisiologia , Humanos , Fator de Crescimento Insulin-Like II/metabolismo , Lactação/fisiologia , Leiomioma/metabolismo , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Fatores de TempoRESUMO
The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the prenatal diagnostics of the central nervous system anomalies.
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Feto Abortado/anormalidades , Aborto Induzido , Sistema Nervoso Central/anormalidades , Malformações do Sistema Nervoso/diagnóstico , Agenesia do Corpo Caloso/diagnóstico , Encéfalo/anormalidades , Encefalopatias/diagnóstico , Colágeno Tipo IV/deficiência , Feminino , Hemiplegia/diagnóstico , Holoprosencefalia/diagnóstico , Humanos , Hidranencefalia/diagnóstico , Hidrocefalia/diagnóstico , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações do Desenvolvimento Cortical/diagnóstico , Microcefalia/diagnóstico , Malformações do Sistema Nervoso/diagnóstico por imagem , Defeitos do Tubo Neural/diagnóstico , Porencefalia , Gravidez , Diagnóstico Pré-Natal , Medula Espinal/anormalidades , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: The apoptotic genes Bax and Bcl-2 are both involved in the pathogenesis of preterm delivery in conjunction with additional factors. We characterized gene expression patterns of these apoptotic regulatory genes as well as relevant environmental factors. DESIGN: A gene expression study with evaluation of clinical data. SETTING: Semmelweis University, Budapest, Hungary. SAMPLE: Human placental samples from 104 preterm and 140 full-term pregnancies. METHODS: Gene tests were performed using real-time PCR to assess gene expression patterns of Bax and Bcl-2 in human placental samples. Clinical data were collected from our computerized database. MAIN OUTCOME MEASURES: Apoptotic gene expression pattern and clinical information against the background of preterm delivery. RESULTS: In placental samples from preterm delivery pregnancies, expression of the Bcl-2 gene was unchanged, whereas the Bax gene was overexpressed. Placental gene expression of Bax in preterm delivery was dependent on gestational age with gestational weeks 28-32 and 32-36 associated with overexpression, and no overexpression in gestational weeks 24-28. Preterm delivery began with premature rupture of membranes in 70.2% and spontaneous uterine activity in 29.8%. CONCLUSIONS: The Bax gene was overexpressed in preterm delivery, whereas expression of the Bcl-2 gene remained unchanged. After the 28(th) gestational week, apoptosis appears to be a key factor in the pathogenesis of preterm delivery.
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Expressão Gênica , Genes bcl-2 , Placenta/metabolismo , Nascimento Prematuro/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteína X Associada a bcl-2/genética , Adulto , Estudos de Casos e Controles , Feminino , Perfilação da Expressão Gênica , Marcadores Genéticos , Humanos , Recém-Nascido , Masculino , Gravidez , Nascimento Prematuro/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Regulação para Cima , Proteína X Associada a bcl-2/metabolismoRESUMO
Cardiovascular diseases (CVDs) are the leading causes of death in the developed countries. Elevated homocysteine level is as an independent risk factor of CVDs. The C677T and A1298C variants of methylenetetrahydrofolate reductase gene (MTHFR) have been shown to influence folate and homocysteine metabolisms. However, the relationship between MTHFR polymorphisms and hyperhomocysteinemia has not been well established yet. The gene variants were also reported to be associated with CVDs. In addition, the C677T polymorphisms may play a role in the development of hypertension. Recent research evidence has suggested that MTHFR variants might be independently linked to CVDs and hypertension, because of the involvement of the MTHFR enzyme product (5-methyl-tetrahydrofolate /5-MTHF) in the regulation of endothelial functions. Further research is required to investigate the association between gene polymorphisms of folate-metabolizing enzymes and CVDs, and to identify the possible role of the relevant gene variants in the molecular pathogenesis of hyperhomocysteinemia.
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5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Doenças Cardiovasculares/enzimologia , Doenças Cardiovasculares/genética , Ferredoxina-NADP Redutase/genética , Homocisteína/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único , 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo , Ácido Fólico/metabolismo , Homocisteína/metabolismo , Humanos , Hiper-Homocisteinemia/enzimologia , Hiper-Homocisteinemia/genética , Hiper-Homocisteinemia/metabolismo , Hipertensão/enzimologia , Hipertensão/genéticaRESUMO
UNLABELLED: Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000-3000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing. AIMS: Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome. METHODS: In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients' cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology. RESULTS: For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors. CONCLUSIONS: The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome.
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Síndrome de Marfan , Sistema de Registros , Bancos de Tecidos , Adolescente , Adulto , Idoso , Criança , DNA , Feminino , Humanos , Hungria , Estimativa de Kaplan-Meier , Estilo de Vida , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/mortalidade , Síndrome de Marfan/fisiopatologia , Síndrome de Marfan/psicologia , Pessoa de Meia-Idade , Atividade Motora , Mucosa Bucal , Estado Nutricional , Seleção de Pacientes , RNA , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Abdominal pregnancy is a rare condition that may lead to severe complications. CASE REPORT: The authors report the case of a 17-week intact abdominal pregnancy diagnosed in the course of an investigation of lower abdominal pain. Ultrasonography and MR examination revealed an intact abdominal pregnancy. Subsequent angiography was performed to occlude the supportive artery of the pregnancy by selective embolization. The pregnancy was terminated safely by laparotomy a day later. The placenta was left in the abdominal cavity because of the high risk of massive and often uncontrollable bleeding, and treatment with methotrexate was applied postoperatively. CONCLUSIONS: Preoperative embolization and the postoperative methotrexate therapy facilitate the safe surgical treatment of abdominal pregnancy.
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Catéteres , Embolização Terapêutica , Metotrexato/uso terapêutico , Segundo Trimestre da Gravidez/fisiologia , Gravidez Abdominal/tratamento farmacológico , Gravidez Abdominal/cirurgia , Adulto , Angiografia , Feminino , Humanos , Gravidez , Resultado do TratamentoRESUMO
INTRODUCTION: In this study, we compared insulin-like growth factor (IGF)-gene expression patterns and characteristics of glucose and insulin metabolism in human placenta from pregnancies with or without intrauterine growth restriction (IUGR). MATERIALS AND METHODS: We compared 101 human placentas from intrauterine growth restriction pregnancies to those of 140 normal pregnancies treated at our department in a one-year period. We have also assessed the serum glucose and insulin levels of the IUGR and control groups. Several possible predicting factors of IUGR were also investigated. RESULTS: Risk for IUGR was suggested by gestational weight gain and gestational increase in maternal body mass index (BMI) as well as maternal birthweight. In pregnancies without IUGR, umbilical cord glucose and insulin levels were significantly higher than in pregnancies with IUGR. In placentas from pregnancies with IUGR an overexpression of the IGF-2 and the insulin-like growth factor binding protein (IGFBP)-3 genes was found. In placentas from pregnancies with male fetal gender we found a significant overexpression of the IGF-2 gene. DISCUSSION: Gestational weight gain and BMI increase seem to predict the development of IUGR. Insulin and carbohydrate metabolism are also impaired in IUGR fetuses. In the placentas from pregnancies with IUGR, IGF-2 is overexpressed reflecting its physiological role in optimizing energy distribution in a low-energy environment.
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Retardo do Crescimento Fetal/genética , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Fator de Crescimento Insulin-Like II/genética , Fator de Crescimento Insulin-Like I/genética , Placenta/metabolismo , Adolescente , Adulto , Sequência de Bases , Peso ao Nascer , Glicemia/metabolismo , Estudos de Casos e Controles , Primers do DNA/genética , Feminino , Sangue Fetal/metabolismo , Retardo do Crescimento Fetal/sangue , Retardo do Crescimento Fetal/patologia , Expressão Gênica , Humanos , Recém-Nascido , Insulina/sangue , Masculino , Idade Materna , Gravidez , Fatores de Risco , Razão de Masculinidade , Adulto JovemRESUMO
Amniotic fluid has been used in prenatal diagnosis for more than decades. It yields a simple and reliable screening and diagnostic tool for a variety of congenital malformations and genetic diseases such as chromosomal aberrations, neural tube defects or storage diseases. Nowadays the widening knowledge provides evidence that amniotic fluid is not only a screening and diagnostic tool, but it may be also the source of the effective therapy of several congenital and adult disorders. A subset of cells, the so-called stem cells were found in the amniotic fluid as well as the placenta, and they proved to be capable of maintaining prolonged undifferentiated proliferation. Stem cells are able to differentiate into multiple tissue types, originating from the three germ layers. In the near future stem cells isolated from amniotic fluid or placenta and stored by cryopreservation may play a significant role in regenerative medicine. Congenital malformations as well as certain diseases in adults might be treated by tissues coming from progenitor cells of amniotic fluid stem cell origin. This study gives a summary of the main characteristics of amniotic fluid stem cells and it also presents important examples of their possible clinical application.
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Líquido Amniótico/citologia , Proliferação de Células , Placenta/citologia , Medicina Regenerativa/tendências , Células-Tronco , Adulto , Animais , Diferenciação Celular , Condrócitos , Criopreservação , Diafragma/citologia , Feminino , Humanos , Células-Tronco Mesenquimais , Miócitos Cardíacos , Neurônios , Osteócitos , Gravidez , Engenharia TecidualRESUMO
Women with a history of breast cancer are common at centers for cancer genetic risk all over Europe. Given limited health care resources, managing this demand, while achieving good value for money coming from health services, is generally a major challenge. This paper recapitulates and summarizes the available methods of the risk assessment of familial breast cancer. After a systematic review of the literature Gail-model, Claus-model and BOADICEA-model were selected, as well as softwares (LINKAGE software; MENDEL v3.3 software) available in the application of these algorhythms are also summarized. Comparisons were made between the models concerning their advantages and disadvantages. The really reliable methods of risk estimation of familial breast cancer are always based on the analysis of the pedigree structure and allow the estimation of the patient's probability of carrying a susceptibility gene under a particular genetic model, given her family history. For this method the knowledge of BRCA mutation status is absolutely indispensable. The methods of BRCA mutation analysis as well as the main characteristics of the occurrence of BRCA mutation carrier condition are discussed in details.
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Neoplasias da Mama/genética , Adulto , Fatores Etários , Idoso , Análise Mutacional de DNA , Feminino , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Penetrância , Medição de Risco , Fatores de RiscoRESUMO
Predictive genetics opens a considerable perspective in the diagnostics as well as the treatment of breast and ovarian cancer. Current recommendations and guidelines for the management of BRCA 1 and BRCA 2 mutation carriers are not based on controlled randomized trials, but on expert opinions. The existing options of prevention, early diagnosis and treatment must be clearly interpreted to the patient. In the context of a dedicated genetic counseling the participation of all involved professionals (geneticist, oncologist, surgeon, gynecologist) is required. The decision-making process concerning the possibilities of prevention, diagnosis and treatment is always deeply influenced by the patient's own experience with the cancer occurred in the family, as well as by her values and expectations of life. The focused multidisciplinary approach, with the application of results from prospective studies in cohorts of BRCA mutation carriers allow the concerned individuals to benefit from this kind of approach of medical treatment.
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Neoplasias da Mama/diagnóstico , Neoplasias da Mama/prevenção & controle , Genes BRCA1 , Genes BRCA2 , Heterozigoto , Mutação , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/prevenção & controle , Adulto , Idoso , Neoplasias da Mama/terapia , Administração de Caso/organização & administração , Administração de Caso/normas , Detecção Precoce de Câncer , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/terapia , Prevenção Primária/métodosRESUMO
Mutations in BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancers. Approximately 10% of cases of ovarian cancer are due to germline mutations in BRCA1 and BRCA2. Ovarian cancer associated with BRCA1 and BRCA2 mutations has a distinct histological phenotype. This type of cancer is predominantly of serous or endometrioid histology and is high grade. Patients with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 40 years, or when childbearing is complete. Nowadays there are no differences between the treatments provided for sporadic and hereditary ovarian cancer, although there are indications that targeted therapy is effective in women with BRCA1/BRCA2-associated tumors. Retrospective studies reveal a high level of sensitivity to platinum agents in BRCA-associated tumors and initial trials show good efficacy and tolerability for polyADP-ribose polymerase inhibitors in mutation carriers with advanced ovarian cancers. These agents might also potentially be used in chemoprevention. Authors review the current management of hereditary ovarian cancer.
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Biomarcadores Tumorais/metabolismo , Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/terapia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Antígeno Ca-125/metabolismo , Metilação de DNA , Detecção Precoce de Câncer/métodos , Detecção Precoce de Câncer/normas , Detecção Precoce de Câncer/tendências , Tubas Uterinas/cirurgia , Feminino , Predisposição Genética para Doença , Humanos , MicroRNAs/metabolismo , Pessoa de Meia-Idade , Neoplasias Ovarianas/classificação , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/cirurgia , Ovariectomia , Medicina de Precisão/métodos , Medicina de Precisão/normas , Medicina de Precisão/tendências , Medição de Risco , Fatores de Risco , Proteínas Supressoras de Tumor/metabolismo , Ubiquitina-Proteína Ligases/metabolismoRESUMO
OBJECTIVE: The aim of this study was to evaluate the characteristics and diagnostic accuracy of prenatal ultrasonography in the diagnosis of abdominal wall malformations. METHOD: The characteristics of 113 pregnancies terminated due to abdominal wall malformations were analyzed. RESULTS: In cases of gastroschisis and omphalocele, similar female dominance was observed. Among the associated malformations, those affecting the cardiovascular system and the extremities were especially common. Regarding the diagnostic accuracy of prenatal sonography, autopsy confirmed sonographic diagnoses in 91% of omphalocele cases and 79% of gastroschisis. CONCLUSION: Prenatal sonographic diagnosis is more accurate in omphaloceles than in gastroschisis.