Development of a comprehensive noninvasive prenatal test.

Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection. Monogenic disease detection was performed through variant analysis. Model validation was performed using the simulated datasets. The novel model to estimate FF was robust and accurate (r2= 0.994, p-value < 2.2e-16). For samples with FF > 0.04, T21 detection had 100% sensitivity (95% CI: 63.06 to 100%) and 98.53% specificity (95% CI: 92.08 to 99.96%). Fetal sex was determined with 100% accuracy. We later performed a proof of concept for monogenic disease diagnosis of 5/7 skeletal dysplasia cases. In conclusion, it is feasible to perform a comprehensive NIPT by using only data from high coverage targeted sequencing, which, in addition to detecting trisomies, also make it possible to identify pathogenic variants of the candidate genes for monogenic diseases.

Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

BACKGROUND: It is estimated that 5-10% of breast cancer cases are hereditary. The identification of pathogenic germline variants allows individualized preventive health care, improvement of clinical management and genetic counseling. Studies in ethnically admixed Latin American populations have identified regions with increased frequency of deleterious variants in breast cancer predisposing genes. In this context, the Brazilian population exhibits great genetic heterogeneity, and is not well represented in international databases, which makes it difficult to interpret the clinical relevance of germline variants. METHODS: We evaluated the frequency of pathogenic/likely pathogenic (P/LP) germline variants in up to 37 breast cancer predisposing genes, in a cohort of 105 breast and/or ovarian cancer Brazilian women referred to two research centers between 2014 and 2019. RESULTS: A total of 22 patients (21%) were found to carry P/LP variants, and 16 VUS were detected in 15 patients (14.3%). Additionally, a novel pathogenic ATM intragenic deletion was identified in an early-onset breast cancer. We also detected a BRCA1 pathogenic variant (c.5074+2T>C) in higher frequency (10×) than in other studies with similar cohorts. CONCLUSIONS: Our findings contribute to the characterization of the genetic background of breast cancer predisposition in the Brazilian population as a useful resource to discriminate between deleterious variants and VUS, thus enabling improvement in the preventive health care and clinical management of carriers.

Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro.

The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of muscle dystrophin causes Becker Muscular Dystrophy (DMB), a milder disease. The replacement of the defective muscle through stem cells transplantation is a possible future treatment for these patients. Our objective was to analyze the potential of CD34+ stem cells from umbilical cord blood to differentiate in muscle cells and express dystrophin, in vitro. Protein expression was analyzed by Immunofluorescence, Western Blotting (WB) and Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). CD34+ stem cells and myoblasts from a DMD affected patient started to fuse with muscle cells immediately after co-cultures establishment. Differentiation in mature myotubes was observed after 15 days and dystrophin-positive regions were detected through Immunofluorescence analysis. However, WB or RT-PCR analysis did not detect the presence of normal dystrophin in co-cultures of CD34+ and DMD or DMB affected patients' muscle cells. In contrast, some CD34+ stem cells differentiated in dystrophin producers' muscle cells, what was observed by WB, reinforcing that this progenitor cell has the potential to originate muscle dystrophin in vitro, and not just in vivo like reported before.

The association between personal history and the outcomes of transobturator sling surgery.

OBJECTIVE: This study aims to verify the association between risk factors for the onset of SUI and transobturator suburethral sling surgical treatment outcomes. PATIENTS AND METHODS: A retrospective study was conducted with 57 patients operated by the Pelvic Floor Surgery Service. Demographic data were compiled from the sample, the body mass index (BMI) was calculated, and the patients were divided according to the response to the surgical treatment. RESULTS: A total of 77.2% of the sample was cured or improved after surgical treatment. Out of the total sample, 75.4% of the women were postmenopausal, and 73.7% denied current or past smoking. The median age was 61 years, the median number of births was 4.0, the median BMI was 28.6 kg/m2, and 50.9% of the sample was classified as pre-obese. BMI, menopausal status, age, smoking, and sexual activity were not factors associated with the surgical outcome. However, parity equal to or greater than 5 was associated with worse postoperative results (p = 0.004). CONCLUSIONS: among risk factors associated with the emergence of SUI, only parity greater than 4 showed a negative impact on transobturator sling surgery outcomes.

The association between personal history and the outcomes of transobturator sling surgery

SUMMARY OBJECTIVE: This study aims to verify the association between risk factors for the onset of SUI and transobturator suburethral sling surgical treatment outcomes. PATIENTS AND METHODS: A retrospective study was conducted with 57 patients operated by the Pelvic Floor Surgery Service. Demographic data were compiled from the sample, the body mass index (BMI) was calculated, and the patients were divided according to the response to the surgical treatment. RESULTS: A total of 77.2% of the sample was cured or improved after surgical treatment. Out of the total sample, 75.4% of the women were postmenopausal, and 73.7% denied current or past smoking. The median age was 61 years, the median number of births was 4.0, the median BMI was 28.6 kg/m2, and 50.9% of the sample was classified as pre-obese. BMI, menopausal status, age, smoking, and sexual activity were not factors associated with the surgical outcome. However, parity equal to or greater than 5 was associated with worse postoperative results (p = 0.004). CONCLUSIONS: among risk factors associated with the emergence of SUI, only parity greater than 4 showed a negative impact on transobturator sling surgery outcomes.

RESUMO OBJETIVO: O estudo pretende verificar a associação entre fatores de risco relacionados ao surgimento da IUE com resultado do tratamento cirúrgico com sling suburetral transobturador. PACIENTES E MÉTODOS: Foi realizado estudo retrospectivo com 57 pacientes operadas pelo serviço de Cirurgia do Assoalho Pélvico da FMJ. Foram compilados dados demográficos da amostra, calculado o índice de massa corpórea (IMC) e as pacientes foram divididas de acordo com a resposta ao tratamento cirúrgico. RESULTADOS: 77,2% da amostra apresentou-se curada ou melhorada após o tratamento cirúrgico, 75,4% das mulheres se encontravam na pós-menopausa e 73,7% negaram tabagismo atual ou passado. A mediana de idade foi de 61 anos, a mediana do número de partos foi de 4,0 e a mediana do IMC foi de 28,6 kg/m2; 50,9% da amostra foi classificada como pré-obesa. O IMC, o status menopausal, a idade, o tabagismo e a manutenção da atividade sexual não foram fatores associados ao resultado cirúrgico. Porém, a paridade igual ou superior a 5 associou-se a piores resultados pós-operatórios (p=0,004). CONCLUSÕES: Entre os fatores de risco associados ao surgimento da IUE, apenas a paridade maior que 4 influenciou negativamente as taxas de melhora após cirurgia de sling transobturador.

Amniocentesis precoz y biopsia de vellosidad corial. Pérdidas fetales y anomalías congénitas en un grupo de gestantes brasileñas / Early amniocentesis and chorionic villus biopsy. Fetal losses and congenital anomalies in a group of Brazilian pregnant women

Resumen En el Instituto de Medicina Fetal y Genética Humana de São Paulo se ofrecen, a las gestantes que tienen un riesgo aumentado para anomalías cromosómicas, diferentes técnicas, entre ellas, la Biopsia de Vellosidad Corial Transabdominal (BVCTA) y la Amniocentesis Precoz (AP). El objetivo del presente estudio es realizar una comparación de la frecuencia de pérdidas fetales y anomalías congénitas presentadas en cada uno de los procedimientos, ambos realizados por los mismos operadores, en la misma edad gestacional (12-14 6/7 semanas) y bajo un abordaje transabdominal. Fueron analizadas retrospectivamente 432 AP y 418 BVCTA. Todos los procedimientos de colecta fueron monitorizados por ultrasonografía. La frecuencia de pérdidas fetales espontáneas fue del 4,9 % en AP y de 5,3 % en BVCTA, una diferencia no significativa. No se encontraron diferencias significativas entre los dos procedimientos al comparar las frecuencias de pérdidas en cada semana de gestación. Sangrado y pérdida de líquido amniótico fueron más frecuentes en AP que en la BVCTA. Esa diferencia fue significativa en el caso de la pérdida de líquido amniótico. En algunos casos este hallazgo se relacionó con pérdida fetal. La incidencia de prematuridad y bajo peso al nacimiento no difirió significativamente entre los dos procedimientos. La mayor frecuencia de problemas respiratorios registrada en AP no fue significativa en comparación con BVCTA. No se observó diferencia significativa en la incidencia de anomalías músculo-esqueléticas. La amniocentesis después de catorce semanas presenta un bajo riesgo de pérdida fetal o anomalías congénitas. La BVCTA, debe ser realizada alrededor de la semana doce de gestación.

Abstract In the Institute of Fetal Medicine and Human Genetics of São Paulo are offered, pregnant women have an increased risk for chromosomal abnormalities, different techniques, among them, Transabdominal Corial Vellosity Biopsy (BVCTA) and Precocious Amniocentesis (AP). The objective of this study is to compare the frequency of Hepatitis and congenital anomalies presented in all procedures, both performed by operators, in the same gestational age (12-14 6/7 weeks) and under a transabdominal approach. 432 AP and 418 BVCTA were analyzed retrospectively. All collection procedures were monitored by ultrasonography. The spontaneous fetal frequency was 4.9% in AP and 5.3% in BVCTA, a non-significant difference. There is no difference in results compared to gestation times. Bleeding and loss of amniotic fluid were more frequent in AP than in BVCTA. That difference was significant in the case of the loss of amniotic fluid. In some cases, this finding was related to fetal loss. The incidence of prematurity and birth weight without difference between the two procedures. The highest frequency of respiratory problems recorded in AP was not significant compared to BVCTA. There is no significant difference in the incidence of musculoskeletal abnormalities. Amniocentesis after 14 weeks presents a low risk of fetal loss or congenital anomalies. The BVCTA should be close to the twelfth week of gestation.

Perspectivas jurídicas da interrupção da gravidez com infecção pelo vírus zika a partir das consequencias médicas, emocionais e sociais / Juridical perspectives of interruption of pregnancy with zika virus infection regarding medical, emotional and social consequences

INTRODUCTION: The Zika virus was identified in 1947 in Rhesus monkeys in the Republic of Uganda and isolated in humans in 1952 in the same country. Up to 2007 there were few cases of human infection in African and Asian countries. The first outbreak of the Zika virus occurred in Brazil in 2015, becoming a serious public health problem due to the increase in the number of cases of microcephaly in infected pregnant women. OBJECTIVE: To describe the legal abortion at Zika virus infection during pregnancy regarding medical, emotional and social consequences. perspectives of abortion for the pregnant woman with Zika virus regarding the medical, emotional and social consequences. METHODS: This is a documentary study based on documents about abortion and its outcomes in Brazil. Technical norms, textbooks, indexed articles of Scopus and PubMed, documents extracted from international human rights treaties and conventions, and legal documents on the subject were used. It was decided to direct the text based on the experiences of each theme on abortion and its outcomes in Brazil, with a synthesis of the current scenario. RESULTS: Recognizing the exceptional nature of this situation, it is sought to confer an interpretation according to the Constitution and Article 128 of the Criminal Code, based on an analogical application, which seeks to protect the physical and mental health of women infected by the Zika virus. It is possible to qualify the practice of abortion in these circumstances as atypical conduct by the state of necessity, excluding the unlawfulness by comparing with articles 23, I and 24 of the Penal Code. CONCLUSION: Authorizing the termination of pregnancy after diagnosis of the virus Zika guarantees women the free exercise of their reproductive rights, which is not confused with state imposition of abortion or eugenic practice.

INTRODUÇÃO: O vírus Zika foi identificado em 1947 em macacos Rhesus na República de Uganda e isolado em seres humanos, em 1952, no mesmo país. Até 2007 registram-se poucos casos da infecção em humanos em países africanos e asiáticos. O primeiro surto epidêmico do vírus Zika ocorreu no Brasil, em 2015, tornando-se grave problema de saúde pública devido a elevação do número de casos de microcefalia em gestantes infectadas. OBJETIVO: Descrever as perspectivas jurídicas do aborto para a gestante com vírus Zika a partir das consequências médicas, emocionais e sociais. MÉTODO: Trata-se de estudo documental realizado a partir de documentos sobre o aborto e seus desfechos no Brasil. Utilizaram-se normativas técnicas, livros-texto, artigos em bases indexadas do Scopus e PubMed, documentos extraídos de tratados e convenções internacionais de Direitos Humanos e documentos jurídicos acerca da temática. Optou-se por direcionar o texto a partir das experiências de cada temática sobre o aborto e seus desfechos no Brasil, com síntese do cenário atual. RESULTADOS: Reconhecendo o caráter excepcional dessa situação, busca-se conferir uma interpretação conforme a Constituição e o artigo 128 do Código Penal, a partir de uma aplicação analógica, que busque tutelar a saúde física e psíquica das mulheres contaminadas pelo vírus Zika. É possível qualificar a prática do aborto nessas circunstâncias como conduta atípica pelo estado de necessidade, excluindo a ilicitude por equiparação aos artigos 23, I e 24, do Código Penal. CONCLUSÃO: Autorizar a interrupção da gravidez após o diagnóstico do vírus Zika garante às mulheres o livre exercício dos seus direitos reprodutivos, o que não se confunde com imposição estatal do aborto ou prática eugênica.

Vaginal hysterectomy in non-prolapsed uteri: a 6-year experience.

OBJECTIVE: To evaluate the applicability of the technique of vaginal hysterectomy in non-prolapsed uterus. METHODS: A retrospective cohort study with 220 patients submitted to vaginal hysterectomy from January 2004 to July 2010 by the Vaginal Surgery and Pelvic Floor Team. Patients mean age was 44.4 years and they had on average three births (0-10 deliveries). The surgery was performed even in cases of previous abdominal surgery, and cesarean section was prevalent in 54.6% of patients. RESULTS: The mean uterus weight was 278.9 g. The mean operative time was 93 minutes, and length of hospital stay was 24 hours after surgery in 65% of cases. There were no cases of visceral injury. The mean postoperative complication was cellulitis of the vaginal vault that occurred in 11 cases (5%) that received antibiotics. Mean blood loss corresponded to 1.4 g/dL hemoglobin. From the analyzed sample, vaginal hysterectomy by vaginal route was feasible in 96.8% of patients, and abdominal conversion was necessary in 3.2%. CONCLUSION: Vaginal hysterectomy is a minimally invasive surgery, with fewer complications, and low morbidity. We believe that this procedure should be indicated to treat gynecological benign diseases.

Natural orifice surgery: new concept in minimally invasive surgery.

We present the concept of natural orifice surgery and of scarless operations, with their access routes, their multidisciplinary character, and challenges to their development. We point out the intra- and postoperative advantages. We emphasize the use of the vaginal route and posterior colpotomy in the application of natural orifice surgery in vaginal hysterectomies and surgical access to adnexa, which includes tubal ligation. We highlight the need for mastering these surgical modalities, which can bring great advantages to patients in Brazil.

Urinary incontinence after vaginal delivery or cesarean section.

OBJECTIVE: To assess the prevalence of stress urinary incontinence, urge incontinence and mixed urinary incontinence among women residing in the city of Jundiaí (São Paulo, Brazil), and the relation between the type of incontinence and the obstetric history of these women. METHODS: A cross-sectional community-based study was conducted. A total of 332 women were interviewed; they were seen for whatever reason at the public primary healthcare units of the city of Jundiaí, from March 2005 to April 2006. A pre-tested questionnaire was administered and consisted of questions used in the EPINCONT Study (Epidemiology of Incontinence in the County of Nord-Trondelag). Statistical analysis was carried out using the χ2 test and odds ratio (95%CI). RESULTS: Urinary incontinence was a complaint for 23.5% of the women interviewed. Stress urinary incontinence prevailed (50%), followed by mixed urinary incontinence (35%) and urge incontinence (15%). Being in the age group of 35-64 years, having a body mass index of 30 or greater and having had only vaginal delivery or cesarean section, with uterine contraction, regardless of the number of pregnancies, were factors associated with stress urinary incontinence. However, being in the age group of 55 or older, having a body mass index of 30 or greater and having had three or more pregnancies, only with vaginal deliveries, were factors associated with mixed urinary incontinence. CONCLUSIONS: One third of the interviewees complained of some type of urinary incontinence, and half of them presented stress urinary incontinence. Cesarean section, only when not preceded by contractions, was not associated with stress urinary incontinence. The body mass index is only relevant when the stress factor is present.

Impact of educational lectures on female adolescents' knowledge about sexually transmitted diseases and cervical cancer in the city of Jundiaí, SP.

OBJECTIVE: To evaluate the knowledge of adolescents living in Vila Ana and Morada das Vinhas region, in the city of Jundiaí, State of São Paulo, Brazil, on prevention and diagnosis of the main sexually transmitted diseases (STDs) and on cervical cancer, as well as the immediate impact of educational lectures. METHODS: A prospective cross-sectional study was performed to assess the knowledge of a particular group of female adolescents about STDs and cervical cancer, by means of a questionnaire applied before and after educational lectures. RESULTS: After the lecture, there was an increased number of correct answers about sexual education, knowledge about HPV (44%), and prevention of cervical cancer (22%). CONCLUSION: The adolescents in our study had little knowledge about STDs and cervical cancer, but educative lectures could change this reality at a low cost to Public Health services.

Vaginal hysterectomy in non-prolapsed uteruses: 6-year experience / Histerectomia vaginal em útero sem prolapso: experiência de 6 anos

OBJECTIVE: To evaluate the applicability of the technique of vaginal hysterectomy in non-prolapsed uterus. METHODS: A retrospective cohort study with 220 patients submitted to vaginal hysterectomy from January 2004 to July 2010 by the Vaginal Surgery and Pelvic Floor Team. Patients mean age was 44.4 years and they had on average three births (0-10 deliveries). The surgery was performed even in cases of previous abdominal surgery, and cesarean section was prevalent in 54.6% of patients. RESULTS: The mean uterus weight was 278.9g. The mean operative time was 93 minutes, and length of hospital stay was 24 hours after surgery in 65% of cases. There were no cases of visceral injury. The mean postoperative complication was cellulitis of the vaginal vault that occurred in 11 cases (5%) that received antibiotics. Mean blood loss corresponded to 1.4g/dL hemoglobin. From the analyzed sample, vaginal hysterectomy by vaginal route was feasible in 96.8% of patients, and abdominal conversion was necessary in 3.2%. CONCLUSION: Vaginal hysterectomy is a minimally invasive surgery, with fewer complications, and low morbidity. We believe that this procedure should be indicated to treat gynecological benign diseases.

OBJETIVO: Avaliar a aplicabilidade da técnica de histerectomia vaginal em úteros sem prolapso. MÉTODOS: Estudo de coorte retrospectivo de 220 pacientes submetidas à histerectomia vaginal no período de janeiro de 2004 a julho de 2010, pela Equipe de Cirurgia Vaginal e do Assoalho Pélvico. A média de idade dos pacientes foi de 44,4 anos e tiveram, em média, 3 partos (0-10 partos). A cirurgia foi realizada mesmo em casos de cirurgias abdominais prévias; a cesárea foi prevalente em 54,6% da amostra. RESULTADOS: O peso médio do útero foi de 278,9g. O tempo cirúrgico médio foi de 93 minutos, e o tempo de internação foi de 24 horas pós-operatórias em 65% dos casos. Não houve nenhum caso de lesão visceral. A complicação pós-operatória mais frequente foi celulite de cúpula, que ocorreu em 11 casos (5%), sendo tratadas com antibioticoterapia. A perda sanguínea foi, em média, de 1,4g/dL de hemoglobina. Foi possível a realização da histerectomia pela via vaginal em 96,8% das pacientes da amostra estudada e em 3,2% foi necessária a conversão para via abdominal. CONCLUSÃO: A histerectomia vaginal é uma cirurgia por orifício natural, minimamente invasiva, com baixas frequência de complicações e morbidade, sendo factível e segura para o tratamento de afecções uterinas benignas.

Hibridación in situ por fluorescencia (fish) en muestras de líquido amniótico obtenido por amniocentesis precoz / Fluorescence in situ hybridization (fish) in samples of amniotic fluid obtained by early amniocentesis

La hibridación in situ por fluorescencia (FISH) se puede utilizar para diagnosticar prenatalmente las aneuploidías más frecuentes. Se utilizan núcleos interfásicos de células fetales no cultivadas. Este es un avance importante en el diagnóstico prenatal. Se describe la aplicación de la FISH en 15 muestras de líquido amniótico no cultivado extraído entre la 12 ± 7.5 y 14 6/7 semanas de gestación (m ± 1 sd = 13,63 ± 0,52). El volumen de líquido amniótico recolectado oscilo entre de 2 y 4ml (3,16 ± 0,58). Todas las pacientes presentaban como principal indicación para la realización del procedimiento la edad materna avanzada. El tiempo para obtener los resultados varió de 1 a 5 días (2,13 ± 1,55 días). El tiempo de entrega de los resultados citogenéticos osciló entre 13 y 22 días (18,4 ± 3,2). En total, 14 casos (93,33) fueron informativos. Las cinco aneuploidías diagnosticadas por FISH fueron confirmadas por citogenética tradicional, sin embargo, el análisis citogenético tradicional identificó un caso de rearreglo cromosómico equilibrado: [46, XY, t (16; 17) (q24; q12) pat] y un caso de mosaicismo: 46,XX/47,XX,+mar. La realización de FISH requiere muchos pasos que pueden impedir que los resultados sean obtenidos, es importante obtener un número suficiente de núcleos para la hibridación. El estudio de aneuploidías en amniocitos no cultivados debe ser introducido en el protocolo de diagnóstico prenatal en mujeres embarazadas con riesgo aumentado de concebir un feto con aneuploidias.

Amniocentesis precoz: estudio citogenético en 505 embarazadas / The early amniocentesis: cytogenetic study in 505 pregnant

El diagnóstico citogenético en líquido amniótico obtenido por amniocentesis precoz (AP) es una alternativa a la embarazada de primer trimestre. El objetivo de este trabajo fue investigar el tipo y la frecuencia de anormalidades cromosómicas encontradas en muestras de líquido amniótico obtenido por medio de esa técnica de colecta. En un periodo de 5 años, 531 AP fueron realizadas en 505 pacientes (479 gestaciones únicas y 26 gemelares), con edad gestacional variando de 12 0/7 a 14 6/7 semanas. La principal indicación para la realización del procedimiento fue edad materna avanzada (66,3 de los casos). Los cultivos fueron establecidos en medio Chang y Amniomax (cultivo en frasco). El tiempo de colecta para la obtención de las preparaciones citogenéticas varió de 7 a 22 días (15,5 ± 2,8). Por lo menos 25 células fueron analizadas por paciente. El tiempo de entrega de resultados varió de 12 a 25 días (18,7±2,8 días). La frecuencia de éxito de cultivo fue del 98,7. Cariotipos anormales fueron identificados en 22 casos (4,2), siendo tres (0,6) rearreglos cromosómicos equilibrados y 19 (3,6) anomalías cromosómicas no equilibradas. De estas, la anormalidad cromosómica más frecuente fue la trisomía del cromosoma 21 (27,3). Fueron identificados cinco casos de cromosomas marcadores, tres en forma de mosaico. Fueron confirmados seis (18,2) resultados anormales detectados en Vellosidad Corial (VC). La frecuencia de pseudomosaicismo encontrada fue del 2,3. Nuestros datos confirman la precisión del estudio citogenético en líquido amniótico obtenido por AP. Con procedimientos de rutina bien establecidos y protocolos adecuadamente estandarizados en el laboratorio de diagnóstico prenatal, se aumenta el éxito de los cultivos de células de líquido amniótico vobtenido por AP y se reduce el tiempo medio de entrega de resultados.

Projeto de lei relativo à interrupção voluntária da gravidez

A instalação da Comissão Tripartite para a revisão da legislação punitiva que trata da interrupção voluntária da gravidez pela Secretaria Especial de Políticas para Mulheres da Presidência da República, em abril de 2005, pela Ministra Nilceia Freire, teve um mérito indiscutível. Pela primeira vez na história do Brasil, um órgão ligado ao Poder Executivo manifestava claramente disposição para colocar a questão do aborto em discussão e promover amplo debate reunindo representantes dos poderes executivo, legislativo e representantes da sociedade civil. O objetivo final era apresentar um projeto de lei que revisse o dispositivo legal vigente em nosso anacrônico Código Penal, que data de 1940. Este só permite a interrupção da gravidez quando não há outro meio de salvar a vida da gestante ou quando a gravidez decorre de estupro

Natural orifice surgery: new concept in minimally invasive surgery / Cirurgia por orifícios naturais: novo conceito em cirurgia minimamente invasiva

We present the concept of natural orifice surgery and of scarless operations, with their access routes, their multidisciplinary character, and challenges to their development. We point out the intra- and postoperative advantages. We emphasize the use of the vaginal route and posterior colpotomy in the application of natural orifice surgery in vaginal hysterectomies and surgical access to adnexa, which includes tubal ligation. We highlight the need for mastering these surgical modalities, which can bring great advantages to patients in Brazil.

Apresentamos, neste artigo, o conceito das cirurgias por orifícios naturais e das cirurgias "sem cicatriz", as suas vias de acesso, seu caráter multidisciplinar e os desafios de seu desenvolvimento. Apontamos as vantagens intra e pós-operatórias. Enfocamos a via vaginal e a colpotomia posterior na aplicação das cirurgias por orifícios naturais em histerectomias vaginais e acessos cirúrgicos aos anexos nos quais se inclui a laqueadura tubárea. Reforçamos a necessidade de nos inteirarmos destas modalidades de cirurgia que poderão trazer grandes vantagens para as pacientes no Brasil.

Impact of educational lectures on female adolescents knowledge about sexually transmitted diseases and cervical cancer in the city of Jundiaí, SP / Impacto das palestras educativas no conhecimento das adolescentes em relação às doenças sexualmente transmissíveis e câncer do colo uterino em Jundiaí, SP

Objective: To evaluate the knowledge of adolescents living in Vila Ana and Morada das Vinhas region, in the city of Jundiaí, State of São Paulo, Brazil, on prevention and diagnosis of the main sexually transmitted diseases (STDs) and on cervical cancer, as well as the immediate impact of educational lectures. Methods: A prospective cross-sectional study was performed to assess the knowledge of a particular group of female adolescents about STDs and cervical cancer, by means of a questionnaire applied before and after educational lectures. Results: After the lecture, there was an increased number of correct answers about sexual education, knowledge about HPV (44%), and prevention of cervical cancer (22%). Conclusion: The adolescents in our study had little knowledge about STDs and cervical cancer, but educative lectures could change this reality at a low cost to Public Health services.

Objetivo: Avaliar o conhecimento das adolescentes moradoras nas regiões abrangentes da Vila Ana e da Morada das Vinhas, na cidade de Jundiaí (SP), sobre a prevenção e diagnóstico das principais doenças sexualmente transmissíveis (DSTs) e do câncer de colo do útero, além de avaliar o impacto imediato de palestras educativas. Métodos: Foi realizado estudo prospectivo de corte transversal para avaliar o conhecimento de um determinado grupo de adolescentes sobre DSTs e câncer do colo uterino, por meio de um questionário aplicado antes e logo após a realização de palestra educativa. Resultados: Após a exposição da palestra, houve aumento de respostas corretas sobre educação sexual, conhecimento do HPV (em 44%) e sobre a prevenção do câncer de colo de útero (em 22%). Conclusão: As adolescentes que participaram do estudo têm pouco conhecimento em relação às DSTs e câncer do colo uterino, mas as palestras educativas são capazes de reverter essa realidade com baixo custo à Saúde Pública.

Urinary incontinence after vaginal delivery or cesarean section / Incontinência urinária após parto vaginal ou cesáreo

Objective: To assess the prevalence of stress urinary incontinence, urge incontinence and mixed urinary incontinence among women residing in the city of Jundiaí (São Paulo, Brazil), and the relation between the type of incontinence and the obstetric history of these women. Methods: A cross-sectional community-based study was conducted. A total of 332 women were interviewed; they were seen for whatever reason at the public primary healthcare units of the city of Jundiaí, from March 2005 to April 2006. A pre-tested questionnaire was administered and consisted of questions used in the EPINCONT Study (Epidemiology of Incontinence in the County of Nord-Trondelag). Statistical analysis was carried out using the X2 test and odds ratio (95%CI). Results: Urinary incontinence was a complaint for 23.5% of the women interviewed. Stress urinary incontinence prevailed (50%), followed by mixed urinary incontinence (35%) and urge incontinence (15%). Being in the age group of 35-64 years, having a body mass index of 30 or greater and having had only vaginal delivery or cesarean section, with uterine contraction, regardless of the number of pregnancies, were factors associated with stress urinary incontinence. However, being in the age group of 55 or older, having a body mass index of 30 or greater and having had three or more pregnancies, only with vaginal deliveries, were factors associated with mixed urinary incontinence. Conclusions: One third of the interviewees complained of some type of urinary incontinence, and half of them presented stress urinary incontinence. Cesarean section, only when not preceded by contractions, was not associated with stress urinary incontinence. The body mass index is only relevant when the stress factor is present.

Objetivo: Avaliar a prevalência de incontinência urinária de esforço, urge incontinência e incontinência urinária mista entre mulheres residentes no município de Jundiaí, e a relação entre o tipo de incontinência e história obstétrica dessas mulheres. Métodos: Foi realizado estudo de corte transversal, do tipo inquérito populacional, no qual foram entrevistadas 332 mulheres, que compareceram por qualquer motivo às unidades básicas de saúde do município de Jundiaí, entre Março de 2005 e Abril de 2006. Para isso, foi utilizado um questionário pré-testado contendo questões utilizadas no EPINCONT Study (Epidemiology of Incontinence in the County of Nord-Trondelag). A análise estatística foi realizada utilizando-se o teste do X2 e odds ratio (IC95%). Resultados: A queixa de incontinência urinária foi observada em 23,5% das mulheres entrevistadas, sendo que a incontinência urinária de esforço foi a mais prevalente (50%), seguida pela incontinência urinária mista (35%) e urge-incontinência (15%). Ter idade entre 35 e 64 anos, índice de massa corpórea maior ou igual a 30 e ter passado apenas por parto normal ou cesárea, com contração, independentemente do número de gestações, foram fatores associados à incontinência urinária de esforço. Já idade acima de 55 anos, índice de massa corpórea maior ou igual a 30, ter passado por três ou mais gestações apenas com partos normais associaram-se à incontinência urinária mista. Conclusões: Um terço das mulheres entrevistadas queixava-se de algum tipo de incontinência urinária, sendo que a metade delas apresentava incontinência urinária de esforço. O parto cesáreo, apenas quando não precedido de contrações, não se associou à incontinência urinária de esforço. O índice de massa corpórea demonstrou ser importante apenas quando há o componente esforço.

X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (ED1) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin-A; EDA-A) involved in the developmental process of epithelial-mesenchymal interaction. ED1 mutations that cause alterations in this protein lead to the XLHED phenotype. The major objective of the present study was to detect ED1 mutations in four Brazilian families with the XLHED phenotype and to compare them to the more than 60 different mutations already reported. DNA of the EDA-A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in polyacrylamide gel stained with silver nitrate. Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 nucleotide deletion at exon 5 responsible for the loss of four Gly-X-Y repeats of the collagen subdomain of EDA-A; (2) a guanine deletion at exon 6 (966 or 967 sites) that alters EDA-A after amino acid 241 and leads to a premature ending at amino acid 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated EDA-A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the XLHED phenotype. In the other two families the PCR-SSCA methodology was unable to detect any mutation responsible for the XLHED phenotype.