44 results on '"Jose Antonio de Azevedo Magalhães"'
Search Results
2. Maternal adipose tissue to early preeclampsia risk detection: Is the time to maternal ultrasound beyond fetal evaluation?
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Juliana Rombaldi Bernardi, Salete de Matos, Marcelo Zubaran Goldani, Alice Carvalhal Schöffel, Jose Antonio de Azevedo Magalhães, Daniela Cortés Kretzer, and Alexandre da Silva Rocha
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Gestational hypertension ,medicine.medical_specialty ,Subcutaneous Fat ,Adipose tissue ,Intra-Abdominal Fat ,Body Mass Index ,Preeclampsia ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Pre-Eclampsia ,Pregnancy ,Humans ,Medicine ,Fetus ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics ,Obstetrics and Gynecology ,Odds ratio ,medicine.disease ,Adipose Tissue ,Quartile ,030220 oncology & carcinogenesis ,Female ,business ,Body mass index - Abstract
Introduction This study aims to determine the predictive capacity of isolated maternal periumbilical and epigastric fat measurements during pregnancy to hypertensive outcomes. Methods A cohort study was conducted with pregnant women in any trimester and followed until delivery to identify the outcomes of interest, preeclampsia (PE) and gestational hypertension (GH). The predictive capacity of fourth quartile measurements was compared with the first three quartiles of maternal subcutaneous and visceral adipose tissue from the periumbilical site (periumbilical m-SAT and m-VAT) (n = 155) and maternal adipose tissue from the epigastric site (preperitoneal m-SAT and m-VAT) (n = 261). The predictive ability of prepregnant body mass index (BMI) above 30 kg/m2 for PE and GH was also assessed. Results Fourth quartiles for the periumbilical ultrasound measurements were m-VAT 52.7 mm and m-SAT 21.7 mm. Preperitoneal site presents fourth quartiles m-VAT 15.2 mm and m-SAT 18.6 mm. Both m-VAT and m-SAT maternal periumbilical and preperitoneal sites are unable to predict PE, with the utmost sensitivity attributed to the periumbilical site m-SAT at 54%. The best PE predictor odds ratio (OR) found was the prepregnant BMI consistent with obesity, with an OR of 3.2 (95% CI 1.1-9.4), whereas the best OR to GH predictor was preperitoneal m-SAT with 8.9 (95% CI 2.3-34.6). Conclusion PE pathogenic mechanisms related to maternal abdominal adipose tissue include differences in molecular, cytological, and tissue levels not detected by ultrasound in a quantified gray scale assessment. Periumbilical or epigastric m-VAT use is not able to predict PE during pregnancy.
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- 2021
3. Modifiable predictors to maternal visceral adipose tissue during pregnancy: A clinical, demographic, and nutritional study
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Salete de Matos, Daniela Cortés Kretzer, Marcelo Zubaran Goldani, Jose Antonio de Azevedo Magalhães, Alice Carvalhal Schöffel, Juliana Rombaldi Bernardi, and Alexandre da Silva Rocha
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medicine.medical_specialty ,Adipose tissue ,Gestational Age ,Intra-Abdominal Fat ,Body Mass Index ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,Demography ,030219 obstetrics & reproductive medicine ,Obstetrics ,business.industry ,Infant ,nutritional and metabolic diseases ,Obstetrics and Gynecology ,Gestational age ,medicine.disease ,Obesity ,medicine.anatomical_structure ,Quartile ,Epigastrium ,030220 oncology & carcinogenesis ,Female ,Pregnancy Trimesters ,medicine.symptom ,business ,Body mass index ,Weight gain - Abstract
Aim Higher amounts of maternal visceral adipose tissue were related to abnormal outcomes in pregnancy. Our objective was to evaluate the impact of modifiable and nonmodifiable predictors related to abnormal amounts of maternal visceral fat during three trimesters of pregnancy. Methods Visceral fat thickness was evaluated by ultrasound during three trimesters centered in the maternal epigastrium (preperitoneal m-VAT) and additionally fat thickness evaluation centered at maternal periumbilical region (periumbilical m-VAT) among cases with gestational age below 20 weeks. The fourth quartile was considered abnormal m-VAT and the first three quartiles as normal m-VAT. Nonmodifiable characteristics included maternal age, past term pregnancies, and ethnicity. Modifiable characteristics included pre-pregnancy body mass index (BMI), weight gain, usual macronutrients, and sugar consumption during pregnancy. Results Preperitoneal m-VAT was assessed in 270 pregnant women and m-VAT periumbilical assessment in 154. The fourth quartile measurement was 15 mm and 53 mm, respectively. Nonmodifiable predictors including maternal age and past term pregnancies significantly impacted the primary study outcome of abnormal periumbilical m-VAT. Having a non-Caucasian ethnicity had a significant impact on the amount of normal preperitoneal m-VAT. Among the modifiable characteristics, both pre-pregnancy BMI and pre-pregnancy obesity impacted the amount of abnormal preperitoneal and periumbilical m-VAT. Conclusion Abnormal amounts of maternal visceral fat during pregnancy are related to nonmodifiable predictors and those present before pregnancy. No impact was found among weight gain during pregnancy or macronutrients and sugar consumption at pregnancy.
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- 2021
4. Gestational diabetes mellitus screening in pandemic times : are there viable alternatives?
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Daniela Cortés Kretzer, Alexandre da Silva Rocha, Felipe Moretti, Alice Carvalhal Schöffel, Juliana Rombaldi Bernardi, Salete de Matos, and Jose Antonio de Azevedo Magalhães
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Diabetes gestacional ,Pediatrics ,medicine.medical_specialty ,Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,MEDLINE ,Pregnancy ,Pandemic ,Obstetrics and Gynaecology ,Infecções por coronavirus ,medicine ,Humans ,Mass Screening ,Letters to the Editor ,Letter to the Editor ,Pandemics ,Mass screening ,Pandemias ,Glucose tolerance test ,medicine.diagnostic_test ,business.industry ,Obstetrics and Gynecology ,General Medicine ,Glucose Tolerance Test ,medicine.disease ,Gestational diabetes ,Diabetes, Gestational ,Female ,business - Published
- 2020
5. Anthropometrical measurements and maternal visceral fat during first half of pregnancy : a cross-sectional survey
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Juliana Rombaldi Bernardi, Daniela Cortés Kretzer, Marcelo Zubaran Goldani, Salete de Matos, Alice Carvalhal Schöffel, Jose Antonio de Azevedo Magalhães, Lisia von Diemen, and Alexandre da Silva Rocha
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Adult ,medicine.medical_specialty ,Cross-sectional study ,Adipose tissue ,Intra-Abdominal Fat ,Spearman's rank correlation coefficient ,lcsh:Gynecology and obstetrics ,Ultrasonography, Prenatal ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,medicine ,Humans ,Outpatient clinic ,Body Weights and Measures ,030212 general & internal medicine ,Correlation of Data ,lcsh:RG1-991 ,Body mass index ,Índice de massa corporal ,030219 obstetrics & reproductive medicine ,Anthropometry ,Obstetrics ,business.industry ,Pregnant women ,Obstetrics and Gynecology ,Gestational age ,Organ Size ,Gordura intra-abdominal ,medicine.disease ,Pregnancy Trimester, First ,Mulheres ,Cross-Sectional Studies ,Pregnancy Trimester, Second ,Gravidez ,Mid-upper arm circumference ,Female ,business ,Research Article ,Antropometria - Abstract
Background Determining anthropometric measures that indicate different fat deposits can be useful to predict metabolic risk and set specific treatment goals, reducing negative consequences for maternal and fetal health. In cases where pre-gestational weight measure and subsequent body mass index (BMI) values cannot be determined, other anthropometric measurements may be ideal for measuring the nutritional status of pregnant women, especially in low- and middle-income countries. This study aims to identify which anthropometric measurements correlate better with the maternal fat deposits measured by ultrasound. Methods A cross-sectional study was conducted with pregnant women from the city of Porto Alegre (city), capital of Rio Grande do Sul (state), southern Brazil, from October 2016 until January 2018. Anthropometrical variables (weight, height, mid-upper arm circumference [MUAC], circumferences of calf and neck and triceps skinfolds [TSF] and subscapular skinfolds [SBSF]), and ultrasound variables (visceral adipose tissue [VAT] and total adipose tissue [TAT]) were collected. To verify the correlation of anthropometric and ultrasound measurements, a non-adjusted and adjusted Spearman correlation was used. The study was approved by the ethics committees. Results The age median of the 149 pregnant women was 25 years [21–31], pre-pregnancy BMI was 26.22 kg/m² [22.16–31.21] and gestational age was 16.2 weeks [13.05–18.10]. The best measurements correlated with VAT and TAT were MUAC and SBSF, both of which showed a higher correlation than pre-pregnancy BMI. Conclusions It is possible to provide a practical and reliable estimate of VAT and TAT from the anthropometric evaluation (MUAC or SBSF) that is low cost, efficient and replicable in an outpatient clinic environment, especially in low- and middle-income countries.
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- 2020
6. Maternal visceral adipose tissue during the first half of pregnancy predicts gestational diabetes at the time of delivery - a cohort study
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Daniela Cortés Kretzer, Jose Antonio de Azevedo Magalhães, Alice Carvalhal Schöffel, Alexandre da Silva Rocha, Marcelo Zubaran Goldani, Juliana Rombaldi Bernardi, Salete de Matos, Rocha, Alexandre da Silva [0000-0002-9283-0559], and Apollo - University of Cambridge Repository
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Diabetes gestacional ,endocrine system diseases ,Physiology ,Maternal Health ,Biochemistry ,Diagnostic Radiology ,Body Mass Index ,Fats ,Endocrinology ,0302 clinical medicine ,Pregnancy ,Risk Factors ,Ultrasound Imaging ,Medicine and Health Sciences ,Medicine ,Birth Weight ,Prospective Studies ,Prospective cohort study ,030219 obstetrics & reproductive medicine ,Multidisciplinary ,Obstetrics ,Radiology and Imaging ,Obstetrics and Gynecology ,Gestational age ,Gordura intra-abdominal ,Lipids ,female genital diseases and pregnancy complications ,Gestational diabetes ,Physiological Parameters ,Adipose Tissue ,Female ,Anatomy ,Research Article ,Cohort study ,Adult ,medicine.medical_specialty ,Endocrine Disorders ,Imaging Techniques ,Science ,030209 endocrinology & metabolism ,Gestational Age ,Intra-Abdominal Fat ,Research and Analysis Methods ,03 medical and health sciences ,Diagnostic Medicine ,Diabetes Mellitus ,Humans ,Obesity ,Gestational Diabetes ,Receiver operating characteristic ,business.industry ,Body Weight ,Biology and Life Sciences ,nutritional and metabolic diseases ,Odds ratio ,medicine.disease ,Diabetes, Gestational ,Biological Tissue ,Metabolic Disorders ,Women's Health ,Gravidez ,Pregnant Women ,business ,Body mass index - Abstract
Background Gestational diabetes mellitus (GDM) is a common condition, often associated with high maternal and fetal morbidity. The use of new tools for early GDM screening can contribute to metabolic control to reduce maternal and fetal risk. This study aimed to ascertain whether maternal visceral adipose tissue (VAT) measurement by ultrasound during the first half of pregnancy can predict the occurrence of GDM during the third trimester. Methods A prospective cohort study of 133 pregnant women with gestational age ≤20 weeks in an outpatient setting. VAT depth was measured by ultrasound at the maternal periumbilical region. GDM status was obtained through hospital charts during hospitalization to delivery. A Receiver Operator Characteristic (ROC) curve was used to determine the optimum threshold to predict GDM. Results According to the ROC curve, a 45mm threshold was identified as the best cut-off value, with 66% of accuracy to predict GDM. Crude and adjusted odds ratios (OR) for GDM were 13.4 (95%CI 2.9–61.1) and 8.9 (95%CI 1.9–42.2), respectively. A similar result was obtained among pre-gravid non-obese women, with crude and adjusted OR of 16.6 (95%CI 1.9–142.6) and 14.4 (95%CI 1.7–125.7), respectively. Among pre-gravid obese patients, a 45mm threshold did not reach statistical significance to predict GDM. Conclusion The high and significant OR found before and after adjustments provides additional evidence of a strong association between VAT and GDM. It appears that VAT measurement during the first half of pregnancy has great potential in identifying non-obese women at high risk for GDM. This evidence can assist obstetricians in correctly allocating resources among populations of pregnant women at risk, determined not only by pre-gravid body mass index (BMI).
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- 2020
7. Prevalence of vitamin D deficiency in women from southern Brazil and association with vitamin D-binding protein levels and GC-DBP gene polymorphisms
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Thaís Rasia da Silva, Betânia Rodrigues dos Santos, Poli Mara Spritzer, Jose Antonio de Azevedo Magalhães, Nathalia Cruz da Costa, Gislaine Krolow Casanova, and Karen Oppermann
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0301 basic medicine ,Vitamin D-binding protein ,Physiology ,Organic chemistry ,Biochemistry ,chemistry.chemical_compound ,0302 clinical medicine ,Endocrinology ,Risk Factors ,Genotype ,Prevalence ,Lipid Hormones ,Vitamin D ,Multidisciplinary ,Estradiol ,Vitamin D-Binding Protein ,Vitamins ,Middle Aged ,Lipids ,Menopause ,Physical sciences ,Chemistry ,Nutritional deficiencies ,Cholesterol ,Medicine ,Female ,Brazil ,Research Article ,Gene isoform ,Vitamin ,Adult ,medicine.medical_specialty ,Science ,030209 endocrinology & metabolism ,Polymorphism, Single Nucleotide ,vitamin D deficiency ,Molecular Genetics ,03 medical and health sciences ,Young Adult ,Chemical compounds ,Internal medicine ,Organic compounds ,medicine ,Genetics ,Humans ,Genetic Predisposition to Disease ,Gene ,Molecular Biology ,Aged ,Nutrition ,Serum vitamin ,Medicine and health sciences ,Vitamin D deficiency ,Biology and life sciences ,Endocrine Physiology ,business.industry ,medicine.disease ,Hormones ,030104 developmental biology ,chemistry ,Insulin Resistance ,business - Abstract
Vitamin D deficiency is highly prevalent worldwide, and vitamin D-binding protein (DBP) a major regulator of serum vitamin D levels. The rs4588 and rs7041 polymorphisms of the GC gene constitute the genetic basis of the three major isoforms of circulating DBP (GC1s, GC1f, and GC2), while the rs2282679 variant is located in an important regulatory region of the GC gene. The aim of this study was to assess the prevalence of 25-hydroxyvitamin D [25(OH)D] deficiency and to ascertain whether it is associated with DBP levels and with GC gene variants. Biorepository samples of 443 women aged 20 to 72 years, with no evidence of clinical disease, were analyzed. Circulating levels of 25(OH)D were considered sufficient if ≥20 ng/mL and deficient if
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- 2019
8. Acompanhamento da toxoplasmose durante a gravidez : uma década de experiência em um hospital universitário no Sul do Brasil
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Amanda Vilaverde Perez, Suzana de Azevedo Záchia, Jose Antonio de Azevedo Magalhães, Ana Lúcia Letti Müller, Amanda Andrade Diesel, and Flavio Antonio de Freitas Uberti
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0301 basic medicine ,Amniotic fluid ,Toxoplasmose congênita ,fetal infection ,Toxoplasmosis, Congenital ,Hospitals, University ,0302 clinical medicine ,Pregnancy ,Congenital infection ,Medicine ,Outpatient clinic ,030212 general & internal medicine ,Pregnancy Complications, Infectious ,Child ,farmacodermia ,education.field_of_study ,Congenital toxoplasmosis ,medicine.diagnostic_test ,Obstetrics ,Obstetrics and Gynecology ,Gestational age ,Fetal infection ,congenital toxoplasmosis ,Child, Preschool ,Amniocentesis ,Infecção congênita ,Female ,infecção fetal ,Brazil ,Toxoplasmosis ,medicine.medical_specialty ,Transplacental transmission ,pharmacodermia ,030106 microbiology ,Population ,Antiprotozoal Agents ,Ultrasonography, Prenatal ,03 medical and health sciences ,Humans ,education ,Retrospective Studies ,Pharmacodermia ,business.industry ,Brasil ,Infant, Newborn ,Infant ,Gynecology and obstetrics ,medicine.disease ,Toxoplasmose ,congenital infection ,RG1-991 ,Gravidez ,business ,Follow-Up Studies - Abstract
Objective To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up. Methods Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded. Results A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications. Conclusions The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment. Resumo Objetivo Descrever uma população de pacientes diagnosticadas com toxoplasmose na gestação e seus respectivos recém-nascidos, relatando o protocolo do hospital durante o tratamento e seguimento. Métodos Coorte retrospectiva de gestantes com infecção aguda por toxoplasmose e risco de transmissão transplacentária, encaminhadas para acompanhamento pelo Grupo deMedicina Fetal doHospital de Clínicas de Porto Alegre (HCPA) entre 1o de janeiro de 2006 e 31 de dezembro de 2016. Todas as pacientes comdoença confirmada foram incluídas. O protocolo de diagnóstico e tratamento foi aplicado; uma análise da reação em cadeia da polimerase (RCP) no líquido amniótico foi utilizada para diagnosticar a toxoplasmose e determinar o tratamento. Os recém-nascidos foram acompanhados no ambulatório de pediatria especializadoeminfecções congênitas. Pacientes que não foramseguidas ou cujo parto não foi feito no hospital foram excluídas. Resultados A toxoplasmose gestacional foi confirmada em 65 pacientes; 40 realizaram amniocentese, e 6 (15%) foram identificadas com RCP positiva no líquido amniótico. Este resultado associado à idade gestacional definiu a terapia tríplice durante a gestação em 5 casos, e a monoterapia em 1 caso (por idade gestacional avançada). Quatro destas crianças foram tratadas desde o nascimento com terapia tríplice por 12 meses, 1 não foi tratada (por recusa materna), e 1 evoluiu com óbito dentro das primeiras 54 horas de vida devido a complicações da toxoplasmose congênita. Dos 34 casos remanescentes com RCP negativa, 33 foram tratados com monoterapia, e 1 foi tratado com terapia tríplice (por achados ultrassonográficos); destes recém-nascidos, 9 (26,5%) tiveram imunoglobulina G (IgG) negativa, 24 (70,6%) tiveram IgG positiva, mas nenhum apresentou imunoglobulina M (IgM) positiva, e 1 (2,9%) apresentou alterações compatíveis comdoença congênita e iniciou a terapia tríplice logo após o nascimento. Entre as 25 pacientes que não fizeram RCP no líquido amniótico, 5 foram tratadas com terapia tríplice (por achados ultrassonográficos/ tratamento prévio) e 20 receberam monoterapia; somente 2 recém-nascidos receberam tratamento para toxoplasmose congênita. Entre os 65 casos de toxoplasmose gestacional, 6 (9,2%) recém-nascidos tiveram o diagnóstico de toxoplasmose congênita. Um total de 2 pacientes submetidas à terapia tríplice apresentaram efeitos adversos severos das medicações utilizadas. Conclusão Este estudo sugere que a triagem da RCP para toxoplasmose do líquido amniótico pode ser útil no rastreamento de pacientes com maior potencial para complicações fetais, que podem se beneficiar do tratamento poli antimicrobiano. Pacientes com RCP negativa devem continuar a prevenir a infecção fetal com monoterapia, sem risco de comprometimento fetal ou materno.
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- 2019
9. Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy
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Caroline Soares Cristofari Emer, Maria Teresa Vieira Sanseverino, Ana Lúcia Letti Müller, André Anjos da Silva, Julio Alejandro Peña Duque, Rejane Gus, and Jose Antonio de Azevedo Magalhães
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Gynecology ,medicine.medical_specialty ,Anormalidades congênitas ,business.industry ,Ultrasonography prenatal ,Trisomy ,Feto/anormalidades ,Gynecology and obstetrics ,Fetus/abnormalities ,Aneuploidy ,Aneuploidia ,Cromossomos humanos Par 18 ,RG1-991 ,Medicine ,Prevalência ,Ultrassonografia pré-natal ,Chromosome aberrations ,Trissomia ,business ,Cromossomos humanos Par 21 ,Aberrações cromossômicas ,Cromossomos humanos par 13 - Abstract
OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p
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- 2015
10. P15.04: Maternal total adipose tissue (TAT) measured by ultrasound and correlations with fasting glucose during first half of pregnancy
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Jose Antonio de Azevedo Magalhães, D. Schneider, Daniela Cortés Kretzer, Juliana Rombaldi Bernardi, Marcelo Zubaran Goldani, A.D. Rocha, and Salete de Matos
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medicine.medical_specialty ,Pregnancy ,Radiological and Ultrasound Technology ,business.industry ,Ultrasound ,Obstetrics and Gynecology ,Adipose tissue ,General Medicine ,medicine.disease ,Fasting glucose ,Endocrinology ,Reproductive Medicine ,Internal medicine ,medicine ,Radiology, Nuclear Medicine and imaging ,business - Published
- 2018
11. Development of two multiplex PCR systems for the analysis of 14 X-chromosomal STR loci in a southern Brazilian population sample
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Larissa Siqueira Penna, Patrícia Hartstein Salim, Jose Antonio de Azevedo Magalhães, Gisele Menezes Ewald, Mariana Jobim, Luiz Fernando Job Jobim, and Fernanda Gamio Silva
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Forensic Genetics ,Genetic Markers ,Male ,Linkage disequilibrium ,Genetic Linkage ,Molecular Sequence Data ,Biology ,Pathology and Forensic Medicine ,symbols.namesake ,Gene Frequency ,Multiplex polymerase chain reaction ,Humans ,Multiplex ,Allele frequency ,X chromosome ,Chromosomes, Human, Pair 14 ,Genetics ,Chromosomes, Human, X ,Base Sequence ,Haplotype ,Gene Amplification ,Genetics, Population ,Bonferroni correction ,Haplotypes ,symbols ,Microsatellite ,Female ,Multiplex Polymerase Chain Reaction ,Brazil ,Microsatellite Repeats - Abstract
We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of DXS6807, DXS6800, DXS7424, DXS101, GATA172D05 and HPRTB and X-Multiplex 2 consisted of DXS8378, DXS9898, DXS6801, DXS6809, DXS6789, DXS7133, DXS8377 and DXS7423. In addition, we present allele frequencies for these loci in a south Brazilian population comprising 124 females and 141 males and haplotype frequencies of linked markers for males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found after applying Bonferroni's correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, out of 91 pairwise comparisons, were obtained. We did not find any evidence of linkage disequilibrium between close or linked markers. The power of discrimination in females (PD(F)) varied between 0.832 for DXS6801 and 0.987 for DXS8377. DXS6801 was the least informative marker (PIC = 0.605), while DXS8377 was the most polymorphic (PIC = 0.911), followed by DXS101 (PIC = 0.872). Genetic distances were estimated for each STR marker applying the calculation of F (ST) between our total sample and other studies from Brazil, Europe, Asia and Africa. The most distant populations were Japan, Korea, China, Ghana and Uganda.
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- 2011
12. P15.06: Complementary use of maternal ultrasonography to early prediction of adipose-related risk conditions during delivery: preliminary results
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A.D. Rocha, Marcelo Zubaran Goldani, Daniela Cortés Kretzer, D. Schneider, Salete de Matos, Jose Antonio de Azevedo Magalhães, and Juliana Rombaldi Bernardi
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medicine.medical_specialty ,Reproductive Medicine ,Radiological and Ultrasound Technology ,business.industry ,Obstetrics ,Early prediction ,Obstetrics and Gynecology ,Medicine ,Adipose tissue ,Radiology, Nuclear Medicine and imaging ,General Medicine ,Ultrasonography ,business - Published
- 2018
13. EP03.02: Measurement of visceral adipose tissue during pregnancy are correlated with birthweight: preliminary results
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A.D. Rocha, Daniela Cortés Kretzer, D. Schneider, Salete de Matos, Juliana Rombaldi Bernardi, Jose Antonio de Azevedo Magalhães, and Marcelo Zubaran Goldani
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Pregnancy ,Reproductive Medicine ,Radiological and Ultrasound Technology ,business.industry ,medicine ,Obstetrics and Gynecology ,Physiology ,Adipose tissue ,Radiology, Nuclear Medicine and imaging ,General Medicine ,medicine.disease ,business - Published
- 2018
14. Contents Vol. 24, 2008
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Timo R. de Haan, Akio Ishiguro, Shiro Kohzuma, Tamme Goecker, P. Papasozomenou, Lourens R. Pistorius, Masaru Takamizawa, F. Fascetti Leon, Jong Chul Shin, Tanja Wolf, Vajih Marsusy, Akihide Ohkuchi, Kimiyo Takagi, Hiroo Naruse, Mei-Leng Joy Cheong, Akio Izumi, Taisto Sarkola, L. Pasquini, Yung Hang Lam, Umur Kuyumcuoğlu, Alexandra Benachi, Hideaki Sawai, Sandra L. Marles, P. Midrio, Marcelo Zugaib, Mark P. Johnson, Jaime Smal, A.P. Athanasiadis, R. Bouvier, Keisuke Ishii, Ken Miyazaki, Peter van Leeuwen, Florent Fuchs, Gregory J. Reid, J. M. Levaillant, L. Michel-Calemard, Takashi Watanabe, Dick Oepkes, Lorna Spagnol, Mary Hoi Yin Tang, Saori Nakahara, Yves Dumez, Sedighh Hantushzadeh, Naime Canoruç, Yutaka Kanamori, Vito Briganti, Alessandro Calisti, Simonetta Costa, C. Arnaoutoglou, Onder Sahin, L. Florentin-Arar, Mitsuru Matsushita, Asuka Kiyota, Raul A. Cortes, Luc Gourand, Alpay Haktanır, Ali İrfan Güzel, Kana Yoshida, Giovanni Mangia, Richard S. Finkel, R. Douglas Wilson, Pil Ryang Lee, A Ramoni, Christoph Brezinka, Jose Antonio de Azevedo Magalhães, Ahmet Kale, Kaoru Ishikawa, Ebru Kale, Marianne Eronen, Immacolata Savarese, Gustavo Lobato, M. V. Senat, Dietrich Grönemeyer, Eduard Kucera, Georgia Kokkali, Yuki Iwasawa, Hiroji Minami, Birgitta Hagnefelt, Juha-Matti Happonen, In Yang Park, Hye-Sung Won, Kyousuke Takeuchi, Nina R. Stein, Maria Mercedes C. Fonseca, Wolfgang Hatzmann, Fatemeh Rahimi Sharbaf, Fatemeh Davari, Véronique Mirlesse, Hirohisa Kurachi, Bruno Barthe, Godelieve C.M.L. Page-Christiaens, Cristina Silveira Soncini, Talvikki Boldt, Jaroslav Feyereisl, Stefanie Kasperski, Fatemeh Baradaran, Alina Solopova, Josef Wisser, Riitta Karikoski, Pascale Sonigo, Olivier Picone, Yasushi Takahata, Maurizio Pacilli, Christopher Konialis, Ralf L. Schild, Marie I. Hadfield, P. Polychronou, Joscha Reinhard, Kojiro Minami, Alexander Alge, Ming-Song Tsai, Francesco Morini, Sven Schiermeier, Matthias W. Beckmann, Denis A. Cozzi, Hiroshi Kawame, Hironobu Hyodo, Adem Aslan, Masahiko Sugiyama, Satoshi Hojo, A.E. Mas, Konstantinos Pantos, Carmela Votino, Fujimi Arai, Lee Young, Seiichi Morokuma, Lucia Oriolo, Min Chen, Yasuo Yumoto, Hiroshi Kawashima, P.G. Gamba, Keiji Goishi, Denise Schlatter, Nicola Hart, Heeyoung Lee, Hideki Nakayama, Kyoko Ono, Shigeki Matsubara, Takako Ohmaru, Yuichi Torii, Jae-Yoon Shim, Zahra Elahipanah, Gen Nishimura, Marie-Cécile Aubry, Kotaro Fukushima, Kayo Takahashi, Alessandra Fritsch, J.N. Bontis, Shun-ichi Yamaguchi, Françoise Parnet-Mathieu, Madoka Furuhashi, Jan Evangelista Jirasek, Elizabeth Lau, F. Dijoud, Bettina Bessières, Francesco Cozzi, Takeshi Maruo, Takashi Igarashi, Jeffrey A. Golden, M. Zafrakas, P. Roth, Albert E. Chudley, Lucy Ng, S. Kumar, G. Blin, Philippe Molle, Shinya Tsuchida, Josef Hager, Mitsuaki Suzuki, Tomohiko Nakamura, Jörn Siemer, Hui-Zhu Zhong, Seiji Tsutsumi, Jane E. Corteville, Laurent Mandelbrot, M. Mabille, Yoshimasa Kamei, Rodrigo Ruano, Michael R. Harrison, Bernard N. Chodirker, Tadashi Iwanaka, G. Norbury, Daniele De Luca, Marcos Nakamura-Pereira, A. Tregnaghi, Christian Marth, Akihiko Kikuchi, Nanae Oda, M.L. Moutard, Keiko Miyachi Takikawa, Gernot Reiter, Can Liao, Caroline B. Maurmann, Kiyomi Tsukimori, Kiyoshi Hayasaka, R.C. Rudigoz, P. Arnould, R. Abel, Sorahiro Sunagawa, Makoto Komura, Ari Kim, Norio Wake, Matthias Scheier, Costantino Romagnoli, Ayumi Tanaka, Tomoyuki Kuwata, Mehmet Yilmazer, Rie Usui, Akiko Yokoyama, Chin Peng Lee, Dong-Zhi Li, Allison M. Brennan, Jian Li, Gülengül Köken, Takeshi Murakoshi, D. Combourieu, Jérôme Massardier, Alison Rusnak, Takashi Sinno, Figen Kir Sahin, Britta Meurer, Ahm Kim, Maria Pia De Carolis, D. Gobbi, Malgorzata A. Verboon-Maciolek, Robert Dankovcik, Emine Coşar, P. Gaucherand, Jozef Radonak, Consolato Sergi, Narges Izadi Mood, Elisa Macedo Brietzke, Constantinos G. Pangalos, Michael Schrauder, Linda S. de Vries, Thierry A.G.M. Huisman, K. Lüthgens, Yuji Taketani, René Frydman, Ricardo Palma-Dias, Marek Dudas, and Fernand Daffos
- Subjects
Embryology ,Traditional medicine ,business.industry ,Pediatrics, Perinatology and Child Health ,Obstetrics and Gynecology ,Medicine ,Radiology, Nuclear Medicine and imaging ,General Medicine ,business - Published
- 2008
15. Screening for Placental Insufficiency by Transvaginal Uterine Artery Doppler at 22–24 Weeks of Gestation
- Author
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Alessandra Fritsch, Nina R. Stein, Maria Mercedes C. Fonseca, Denise Schlatter, Caroline B. Maurmann, Ricardo Palma-Dias, Elisa Macedo Brietzke, and Jose Antonio de Azevedo Magalhães
- Subjects
Adult ,Embryology ,medicine.medical_specialty ,Adolescent ,genetic structures ,Uterus ,Gestational Age ,Placental insufficiency ,Sensitivity and Specificity ,Young Adult ,Pre-Eclampsia ,Predictive Value of Tests ,Pregnancy ,medicine ,Humans ,False Positive Reactions ,Radiology, Nuclear Medicine and imaging ,Ultrasonography, Doppler, Color ,Fetal Death ,Gynecology ,Fetal Growth Retardation ,business.industry ,Obstetrics ,Uterine artery doppler ,Reproducibility of Results ,Obstetrics and Gynecology ,Gestational age ,Arteries ,General Medicine ,Middle Aged ,Placental Insufficiency ,medicine.disease ,medicine.anatomical_structure ,Area Under Curve ,Predictive value of tests ,Vagina ,Pediatrics, Perinatology and Child Health ,Gestation ,Female ,business - Abstract
Objective: To determine the value of routine transvaginal color Doppler assessment of the uterine arteries at 22–24 weeks of gestation in the prediction of placental insufficiency. Methods: Women with singleton pregnancies scheduled for routine ultrasound scans at 22–24 weeks were offered Doppler assessment of the uterine arteries by transvaginal ultrasound. The pulsatility index (PI) was obtained for each artery and the mean value was calculated. A mean PI >95th percentile was considered increased. Screening characteristics for predicting placental insufficiency, defined as preeclampsia, fetal growth restriction or intrauterine death, were calculated. Results: Doppler examination of the uterine arteries was carried out in 1,057 singleton pregnancies. The mean uterine artery PI was 1.03 and the 95th percentile was 1.55. In 54 cases (5.1%) the mean PI was >1.55 (screen-positive). In the study population there were 48 cases of preeclampsia (5.1%), 72 fetal growth restrictions (7.5%) and 7 intrauterine deaths (0.7%). The screen-positive group showed an incidence of 47.1% of combined adverse results. The relative risks after a positive screening test were 7.3 (CI 4.2–12.6) for pre-eclampsia, 3.9 (CI 2.3 – 6.6) for fetal growth restriction and 4.5 (CI 3.2–6.4) for overall placental insufficiency. Conclusions: Uterine artery Doppler at 22–24 weeks identifies women at higher risk for the development of subsequent complications of placental insufficiency. This test could be used in combination with other markers to stratify the level of care offered in the third trimester of pregnancy.
- Published
- 2008
16. Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
- Author
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Denise P. Cavalcanti, Maria Teresa Vieira Sanseverino, Lavinia Schuler-Faccini, Luiz Alberto Todeschini, Jose Antonio de Azevedo Magalhães, Eduardo Preusser de Mattos, Júlio César Loguercio Leite, and Têmis Maria Félix
- Subjects
Thorax ,musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,lcsh:QH426-470 ,Prenatal diagnosis ,SOX9 ,Biology ,skeletal dysplasia ,Short stature ,Osteocondrodisplasias ,Genetics ,medicine ,Molecular Biology ,Diagnóstico pré-natal ,prenatal diagnosis ,medicine.disease ,Displasia campomélica ,musculoskeletal system ,Phenotype ,Hypoplasia ,Campomelic dysplasia ,lcsh:Genetics ,Dysplasia ,osteochondrodysplasias ,Human and Medical Genetics ,medicine.symptom ,campomelic dysplasia - Abstract
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype-phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia.
- Published
- 2015
17. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability
- Author
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Júlio César Loguercio Leite, Maria Teresa Vieira Sanseverino, Albertina Torreblanca-Zanca, Rejane Gus-Kessler, André Anjos da Silva, Juliano Adams Perez, Pablo Lapunzina, Leonardo Modesti Vedolin, Jose Antonio de Azevedo Magalhães, Sandra Leistner-Segal, Victor L. Ruiz-Perez, Eduardo Preusser de Mattos, Ministerio de Ciencia e Innovación (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Conselho Nacional de Desenvolvimento Científico e Tecnológico (Brasil), and Hospital de Clínicas de Porto Alegre
- Subjects
Male ,Microcephaly ,Genotype ,Molecular Sequence Data ,Nonsense mutation ,Limb Deformities, Congenital ,Gene Expression ,Prenatal diagnosis ,Biology ,medicine.disease_cause ,Severity of Illness Index ,Ultrasonography, Prenatal ,Consanguinity ,symbols.namesake ,Exon ,Fetus ,Seizures ,PHGDH Gene ,Genetics ,medicine ,Humans ,Neu-Laxova syndrome ,Abnormalities, Multiple ,Phosphoglycerate Dehydrogenase ,Genetics (clinical) ,Sanger sequencing ,Brain Diseases ,Mutation ,Fetal Growth Retardation ,Base Sequence ,Homozygote ,Infant, Newborn ,Genetic Variation ,Ichthyosis ,Sequence Analysis, DNA ,medicine.disease ,Pedigree ,Phenotype ,Codon, Nonsense ,symbols ,Female ,Genes, Lethal ,Psychomotor Disorders ,Carbohydrate Metabolism, Inborn Errors - Abstract
et al., In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre- and postnatal magnetic resonance imaging (MRI) evaluations were performed. Prenatally, serial US evaluations suggested symmetric growth restriction, microcephaly, hypoplasia of the cerebellar vermis, micrognathia, hydrops, shortened limbs, arthrogryposis, and talipes equinovarus. The prenatal MRI confirmed these findings prompting a diagnosis of NLS. After birth, radiological imaging did not detect any gross bone abnormalities. DNA was extracted from fetal and parental peripheral blood, all coding exons of PHGDH were PCR-amplified and subjected to Sanger sequencing. Sequencing of PHGDH identified a homozygous premature stop codon mutation (c.1297C>T; p.Gln433*) in fetal DNA, both parents (first-cousins) being heterozygotes. Based on previous associations of mutations in this gene with a milder NLS phenotype, as well as cases of serine deficiency, these observations lend further support to a genotype-phenotype correlation between the degree of PHGDH inactivation and disease severity., Grant sponsor: Spanish Ministry of Science and Innovation; Grant number: SAF2013-43365-R; Grant sponsor: The CIBERER Program of Research on Pediatric diseases (ACCI 2012); Grant sponsor: The Brazilian National Council for Research and Development (CNPq); Grant sponsor: Hospital de Clínicas de Porto Alegre (FIPE-HCPA).
- Published
- 2015
18. Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II
- Author
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Jose Antonio de Azevedo Magalhães, Maria Teresa Vieira Sanseverino, Roberto Giugliani, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Maira Graeff Burin, and Rejane Gus
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Fetus ,Pathology ,medicine.medical_specialty ,business.industry ,Genetic counseling ,lcsh:R ,Prenatal diagnosis ,lcsh:Medicine ,General Medicine ,Prenatal care ,Gene mutation ,law.invention ,Andrology ,Aconselhamento genético ,Mucopolissacaridose II ,law ,Medicine ,molecular analysis ,Restriction fragment length polymorphism ,Mucopolysaccharidosis type II ,business ,Diagnóstico pré-natal ,Polymerase chain reaction ,genetic counselling - Abstract
Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase ( IDS ). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change. Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas dePorto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family. Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis. Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women.
- Published
- 2014
19. Transvaginal ultrasonographic assessment of the expulsion rate of intrauterine devices inserted in the immediate postpartum period: a pilot study
- Author
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Ana Lúcia Letti Müller, Jose Antonio de Azevedo Magalhães, Edimárlei Gonsales Valério, José Geraldo Lopes Ramos, Daniela Vanessa Vettori, Cristina L. Glitz, Sérgio Martins-Costa, Luciano Serpa Hammes, Ângela Erguy Zucatto, and Ricardo dos Santos Palma Dias
- Subjects
Adult ,medicine.medical_specialty ,Population ,Pilot Projects ,Physical examination ,Intrauterine device ,Pregnancy ,medicine ,Humans ,Natural Childbirth ,education ,Cervical canal ,Ultrasonography ,education.field_of_study ,medicine.diagnostic_test ,Cesarean Section ,business.industry ,Vaginal delivery ,Obstetrics ,Postpartum Period ,Obstetrics and Gynecology ,Intrauterine Device Expulsion ,Surgery ,medicine.anatomical_structure ,Reproductive Medicine ,Family planning ,Vagina ,Female ,business ,Postpartum period - Abstract
Objective To compare the expulsion rates of intrauterine devices (IUDs) inserted in the immediate postpartum after vaginal birth and cesarean section. Methods Nineteen patients who had a vaginal birth and 19 patients who had a cesarean section at Hospital de Clinicas de Porto Alegre, Brazil, were selected for copper T 380A IUD insertion. With the aim of detecting clinically unnoticed dislodged devices, ultrasound examinations were performed at 1 month and between 3 and 12 months after delivery. The IUDs were considered completely expelled when found outside the endometrial cavity (e.g., in the cervical canal) or outside the uterus (in the vagina). Results Expulsion rates were statistically different between the two groups: after a vaginal birth, 50% (ultrasound only) + 27.8% (clinical examination); and post-cesarean section, 0% (p Conclusion Considering that the contraceptive efficacy of IUDs is associated with their intrauterine location, the high expulsion rates seen when they are inserted immediately after vaginal delivery contraindicate their use in this setting. The use of IUDs immediately after a cesarean section is still a reasonable alternative because its expulsion rate was zero. Ultrasound assessment of IUD positioning performed better than clinical examination, which failed to detect expulsion after postpartum insertion in 75% of the cases (9 from 12 cases).
- Published
- 2005
20. Subendometrial power Doppler quantification: a new classification proposal
- Author
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Cunha-Filho Jsl, Passos Ep, Ricardo Palma-Dias, nez Mf Jiménez, Fagundes Pap, and Jose Antonio de Azevedo Magalhães
- Subjects
Adult ,medicine.medical_specialty ,media_common.quotation_subject ,Body Mass Index ,Endometrium ,Power doppler ,Humans ,Medicine ,Prospective Studies ,Prospective cohort study ,Ovulation ,media_common ,Gynecology ,business.industry ,Microcirculation ,Ovary ,Ultrasound ,Obstetrics and Gynecology ,Ultrasonography, Doppler ,Clinical Practice ,Cross-Sectional Studies ,Reproductive Medicine ,Colour doppler ,Female ,business ,Nuclear medicine ,Body mass index ,Software ,Kappa ,Developmental Biology - Abstract
Fifty-two women with regular menses were enrolled in the study. The patients were not allowed to use non-steroidal anti-inflammatory drugs within 24 h of any examination. All patients were examined during the mid-luteal phase (6-9 days after ovulation, according to previous ultrasound record). Power Doppler energy levels were classified into five categories according to the per cent area of sub-endometrial signal: I (10%), II (10-25%), III (25-50%), IV (50-75%) and V (75%). The colour Doppler signal was considered positive when it reached at least the endometrial basal layer. The picture of the endometrium was analysed and the regions of interest were identified and marked for further analysis. Each recorded image was then independently evaluated and classified by three blinded observers. According to the power Doppler classification, age, body mass index (BMI) and endometrial thickness were analysed, and no significant differences were observed among them. The Kappa test (0.70) demonstrated an excellent agreement among examiners (P = 0.0001). This study has validated a very simple and cost-effective classification for sub-endometrial vascularization. This method of quantification may potentially be of use, and its relevance to clinical practice should be explored.
- Published
- 2005
21. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis
- Author
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Marisa Chesky, Patricia Martins Moura Barrios, Roberto Giugliani, Maria Teresa Vieira Sanseverino, Alessandra Fritsh, Janice Carneiro Coelho, Fernanda Timm, Ana Paula Scholz, Maira Graeff Burin, Rejane Gus, and Jose Antonio de Azevedo Magalhães
- Subjects
Adult ,Pediatrics ,medicine.medical_specialty ,Hydrops Fetalis ,Genetic counseling ,Mucopolysaccharidosis type IV ,Consanguinity ,Mucolipidoses ,Pregnancy ,Hydrops fetalis ,Lysosomal storage disease ,medicine ,Humans ,Sialidosis ,Genetics (clinical) ,Niemann-Pick Diseases ,Mucolipidosis ,business.industry ,Mucopolysaccharidosis IV ,Obstetrics and Gynecology ,medicine.disease ,Lysosomal Storage Diseases ,Immunology ,Female ,Galactosialidosis ,business - Abstract
Objective To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF). Methods Thirty-three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the detection of LSD were performed. Results In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann–Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A. Conclusion Although LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible. Copyright © 2004 John Wiley & Sons, Ltd.
- Published
- 2004
22. Endometrial response to a cyclic regimen of percutaneous 17β-estradiol and low-dose vaginal micronized progesterone in women with mild-to-moderate hypertension
- Author
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J. A. Sisson de Castro, Suzana Ruschel, Luiz César Vilodre, M. C. Osório Wender, F. M. dos Reis, Poli Mara Spritzer, and Jose Antonio de Azevedo Magalhães
- Subjects
Gynecology ,medicine.medical_specialty ,medicine.drug_class ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Urology ,Obstetrics and Gynecology ,Hormone replacement therapy (menopause) ,medicine.disease ,Menopause ,Follicle-stimulating hormone ,Endocrinology ,Estrogen ,Breakthrough bleeding ,medicine ,Vaginal bleeding ,Amenorrhea ,medicine.symptom ,Luteinizing hormone ,business - Abstract
Endometrial response to natural estradiol and low-dose vaginal progesterone replacement therapy was evaluated in 20 postmenopausal women with chronic, mild-to-moderate hypertension. A cyclic hormone replacement therapy (HRT) regimen was used (21/28 days) with percutaneous estradiol (1.5 mg/day) and vaginal micronized progesterone (100 mg/day). Menopausal symptoms decreased and estradiol concentrations increased substantially and remained in the physiological range throughout treatment. Serum gonadotropin concentrations decreased significantly (p < 0.001, Friedman's ANOVA). Bone mineral density increased by 2.1% (p = 0.029) only at the lumbar spine. Endometrial thickness remained unchanged. Breakthrough bleeding or spotting occurred in 18% of cycles in the first 3 months of HRT, 30% in months 4-9 and 22% in months 10-12. Withdrawal bleeding occurred in 40% of cycles in the first 3 months and decreased to 25% in months 10-12. At month 12, there were 11 women with amenorrhea due to endometrial atrophy. Nine women had active endometria (proliferative or secretory) and thus reported vaginal bleeding. No severe bleeding, hyperplasia, or carcinoma was found. Vaginal bleeding was tolerated, and no subject withdrew from the study. Results suggest that this regimen confers endometrial protection and is well tolerated, and can therefore safely be used for at least 1 year by postmenopausal women with hypertension and menopausal symptoms.
- Published
- 2003
23. Biochemical profile of amniotic fluid for the assessment of fetal and renal development
- Author
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F.R. Oliveira, Jose Antonio de Azevedo Magalhães, and E.G. Barros
- Subjects
Adult ,medicine.medical_specialty ,Amniotic fluid ,Physiology ,Immunology ,Biophysics ,Renal function ,Gestational Age ,Kidney ,urologic and male genital diseases ,Biochemistry ,Fetal renal maturation ,Embryonic and Fetal Development ,chemistry.chemical_compound ,ß2-Microglobulin ,Pregnancy ,Internal medicine ,Acetylglucosaminidase ,medicine ,Humans ,General Pharmacology, Toxicology and Pharmaceutics ,lcsh:QH301-705.5 ,Creatinine ,Fetus ,Normal pregnancy ,lcsh:R5-920 ,business.industry ,General Neuroscience ,Sodium ,Albumin ,Gestational age ,Cell Biology ,General Medicine ,medicine.disease ,Cross-Sectional Studies ,Endocrinology ,Glucose ,chemistry ,lcsh:Biology (General) ,Uric acid ,Female ,beta 2-Microglobulin ,business ,lcsh:Medicine (General) ,Biomarkers - Abstract
Creatinine plays a key role in the function and maturation of fetal kidneys throughout pregnancy. It is important to identify other markers that may help in the diagnosis of renal dysfunction. Our aim was to determine the profile of and the correlation between biochemical markers to be used to assess renal function and maturation of the fetus in the amniotic fluid during pregnancy and to determine the distribution of normal values for creatinine, N-acetyl-beta-D-glucosaminidase (NAG), beta2-microglobulin, glucose, urea, sodium, potassium, phosphorus, calcium, uric acid, albumin, and osmolality in three gestational age groups. This was a cross-section study that assessed 115 samples of amniotic fluid during three different periods of pregnancy, i.e., 13 to 20, 27 to 34, and 36 to 42 weeks. Concentrations of creatinine, NAG, urea, potassium and uric acid increased during pregnancy (P0.05). Beta2-microglobulin, glucose, sodium, phosphorus, calcium, and albumin concentration and osmolality decreased (P0.05), whereas beta2-microglobulin, glucose and uric acid presented significant correlations with gestational age and creatinine, respectively (r0.6, P0.05). Urea, potassium and phosphorus showed mild correlations with both (r0.5, P0.05). NAG, sodium, albumin and osmolality did not show significant correlations (r0.5, P0.05). These tests confirmed the important role of creatinine in terms of correlation with gestational age. beta2-Microglobulin, glucose and uric acid were significant as markers of function and maturation of fetal kidneys, whereas NAG did not demonstrate a useful role for the assessment of renal maturation.
- Published
- 2002
24. EP17.06: Ultrasound evaluation of maternal visceral adiposity tissue (VAT) during pregnancy and the impact in maternal glycemic levels (preliminary results)
- Author
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Jose Antonio de Azevedo Magalhães, Marcelo Zubaran Goldani, A.D. Rocha, Juliana Rombaldi Bernardi, D. Cortes Kretzer, and Salete de Matos
- Subjects
Pregnancy ,medicine.medical_specialty ,Radiological and Ultrasound Technology ,business.industry ,Obstetrics ,Ultrasound ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,Surgery ,Reproductive Medicine ,medicine ,Radiology, Nuclear Medicine and imaging ,business ,Glycemic - Published
- 2017
25. P21.08: Diagnosis of metabolic risk during pregnancy by body mass index (BMI): does a better method exist? Preliminary results
- Author
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A.D. Rocha, Salete de Matos, Marcelo Zubaran Goldani, D. Cortes Kretzer, Jose Antonio de Azevedo Magalhães, and Juliana Rombaldi Bernardi
- Subjects
Pregnancy ,medicine.medical_specialty ,Radiological and Ultrasound Technology ,business.industry ,Obstetrics ,Metabolic risk ,Obstetrics and Gynecology ,General Medicine ,medicine.disease ,Reproductive Medicine ,Medicine ,Radiology, Nuclear Medicine and imaging ,business ,Body mass index - Published
- 2017
26. Prenatal Diagnosis of a BenignFacial Tumor
- Author
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Ricardo Palma-Dias, H. Papich, F. Freitas, M.M. da Fonseca, R.P. Balbinotto, and Jose Antonio de Azevedo Magalhães
- Subjects
Adult ,Male ,Polyhydramnios ,Chin ,Embryology ,medicine.medical_specialty ,Hamartoma ,Gestational Age ,Prenatal diagnosis ,Ultrasonography, Prenatal ,Pregnancy ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Fetus ,business.industry ,Ultrasound ,Infant, Newborn ,Obstetrics and Gynecology ,Gestational age ,General Medicine ,medicine.disease ,Surgery ,medicine.anatomical_structure ,embryonic structures ,Pediatrics, Perinatology and Child Health ,Female ,Radiology ,Facial Neoplasms ,business ,Fetal skin - Abstract
We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh which made us call it ‘Ramses’ sign’ as a future mnemonic aid to sonographers.
- Published
- 1999
27. Subject Index Vol. 24, 2008
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Godelieve C.M.L. Page-Christiaens, Cristina Silveira Soncini, Takashi Sinno, Figen Kir Sahin, Yasuo Yumoto, Jae-Yoon Shim, Jörn Siemer, Hui-Zhu Zhong, M. Mabille, Alpay Haktanir, Francesco Cozzi, Takeshi Maruo, Jeffrey A. Golden, Maria Pia De Carolis, D. Gobbi, Malgorzata A. Verboon-Maciolek, F. Dijoud, Denise Schlatter, Nicola Hart, Linda S. de Vries, Marianne Eronen, Riitta Karikoski, Dietrich Grönemeyer, Takako Ohmaru, Thierry A.G.M. Huisman, Lucia Oriolo, Shiro Kohzuma, K. Lüthgens, Kotaro Fukushima, Juha-Matti Happonen, In Yang Park, M. V. Senat, Hye-Sung Won, Eduard Kucera, Akihide Ohkuchi, Hirohisa Kurachi, Fatemeh Davari, R. Abel, Wolfgang Hatzmann, Ahmet Kale, Jong Chul Shin, Akio Izumi, Kojiro Minami, Denis A. Cozzi, Laurent Mandelbrot, Hironobu Hyodo, Immacolata Savarese, Gustavo Lobato, P. Papasozomenou, P. Gaucherand, Taisto Sarkola, A.E. Mas, Konstantinos Pantos, Vajih Marsusy, Fujimi Arai, Yuji Taketani, Peter van Leeuwen, Heeyoung Lee, Hideki Nakayama, P.G. Gamba, Hideaki Sawai, Marie-Cécile Aubry, Adem Aslan, Lorna Spagnol, Talvikki Boldt, Elizabeth Lau, René Frydman, Yutaka Kanamori, Daniele De Luca, Marcos Nakamura-Pereira, Jozef Radonak, Jan Evangelista Jirasek, Bettina Bessières, Dick Oepkes, Consolato Sergi, Tamme Goecker, Narges Izadi Mood, Vito Briganti, Ken Miyazaki, Can Liao, Madoka Furuhashi, Ari Kim, A Ramoni, Shigeki Matsubara, Takashi Watanabe, Norio Wake, Michael R. Harrison, Bernard N. Chodirker, Shinya Tsuchida, Alessandra Fritsch, J.N. Bontis, G. Norbury, Timo R. de Haan, Akio Ishiguro, L. Michel-Calemard, S. Kumar, Tadashi Iwanaka, Elisa Macedo Brietzke, Bruno Barthe, Richard S. Finkel, R. Douglas Wilson, Matthias W. Beckmann, Ricardo Palma-Dias, Naime Canoruç, Luc Gourand, A. Tregnaghi, Mary Hoi Yin Tang, Constantinos G. Pangalos, Seiji Tsutsumi, Michael Schrauder, Alexander Alge, Jane E. Corteville, Pil Ryang Lee, Marek Dudas, Lourens R. Pistorius, Ali İrfan Güzel, Yuichi Torii, Carmela Votino, Emine Coşar, Ming-Song Tsai, Gernot Reiter, Fatemeh Baradaran, Masaru Takamizawa, Yuki Iwasawa, Hiroji Minami, Kiyomi Tsukimori, Olivier Picone, Alina Solopova, Josef Wisser, Christian Marth, P. Arnould, Matthias Scheier, Pascale Sonigo, Takashi Igarashi, Costantino Romagnoli, P. Polychronou, Nina R. Stein, Maria Mercedes C. Fonseca, Joscha Reinhard, Kimiyo Takagi, Mei-Leng Joy Cheong, F. Fascetti Leon, Francesco Morini, Birgitta Hagnefelt, Véronique Mirlesse, Fernand Daffos, Kyousuke Takeuchi, M.L. Moutard, Keiko Miyachi Takikawa, Fatemeh Rahimi Sharbaf, Hiroshi Kawame, G. Blin, Rodrigo Ruano, Makoto Komura, Caroline B. Maurmann, Kiyoshi Hayasaka, Hiroshi Kawashima, Alexandra Benachi, Hiroo Naruse, M. Zafrakas, Alessandro Calisti, L. Pasquini, Simonetta Costa, C. Arnaoutoglou, Giovanni Mangia, Masahiko Sugiyama, Zahra Elahipanah, Satoshi Hojo, Ebru Kale, Lucy Ng, P. Roth, Albert E. Chudley, Philippe Molle, Gen Nishimura, Sedighh Hantushzadeh, Tomoyuki Kuwata, Akihiko Kikuchi, Umur Kuyumcuoğlu, Françoise Parnet-Mathieu, Mehmet Yilmazer, Saori Nakahara, Tomohiko Nakamura, Yves Dumez, R.C. Rudigoz, Kana Yoshida, Sorahiro Sunagawa, Sandra L. Marles, Marcelo Zugaib, Mark P. Johnson, Jaime Smal, A.P. Athanasiadis, R. Bouvier, Florent Fuchs, Gregory J. Reid, Nanae Oda, Akiko Yokoyama, Tanja Wolf, Chin Peng Lee, Yung Hang Lam, P. Midrio, Jose Antonio de Azevedo Magalhães, L. Florentin-Arar, Marie I. Hadfield, Keisuke Ishii, Lee Young, Seiichi Morokuma, Min Chen, Keiji Goishi, Josef Hager, Mitsuaki Suzuki, D. Combourieu, Mitsuru Matsushita, Kayo Takahashi, Shun-ichi Yamaguchi, Kaoru Ishikawa, Yasushi Takahata, Maurizio Pacilli, Ayumi Tanaka, Christopher Konialis, Rie Usui, Sven Schiermeier, Britta Meurer, Kyoko Ono, Ahm Kim, Georgia Kokkali, Jaroslav Feyereisl, Stefanie Kasperski, Ralf L. Schild, Robert Dankovcik, Onder Sahin, Asuka Kiyota, Raul A. Cortes, Christoph Brezinka, Yoshimasa Kamei, Dong-Zhi Li, Allison M. Brennan, Jian Li, Gülengül Köken, Takeshi Murakoshi, Jérôme Massardier, Alison Rusnak, and J. M. Levaillant
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Embryology ,Index (economics) ,business.industry ,Pediatrics, Perinatology and Child Health ,Statistics ,Obstetrics and Gynecology ,Medicine ,Radiology, Nuclear Medicine and imaging ,Subject (documents) ,General Medicine ,business - Published
- 2008
28. Efeitos da terapia hormonal no endométrio de mulheres na pós-menopausa : estudo clínico randomizado por um ano com estradiol oral em baixa dosagem em associação com sistema intrauterino com levonorgestrel ou drospirona
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Fernando Monteiro de Freitas, Carolina Pereira, Maria Celeste Osório Wender, Edison Capp, Júlia Marques da Rocha de Azevedo, Jose Antonio de Azevedo Magalhães, and Luiza Schvartzman
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medicine.medical_specialty ,medicine.medical_treatment ,Levonorgestrel ,Endometrium ,Gastroenterology ,lcsh:Gynecology and obstetrics ,law.invention ,Drospirenone ,Randomized controlled trial ,law ,Terapia de reposição de estrogênios ,Internal medicine ,Drospirenona ,medicine ,Vaginal bleeding ,Hormônio ,lcsh:RG1-991 ,Endométrio ,Gynecology ,medicine.diagnostic_test ,business.industry ,Levanogestrel ,Public Health, Environmental and Occupational Health ,Obstetrics and Gynecology ,Hormone replacement therapy (menopause) ,medicine.disease ,Pós-menopausa ,Hormone ,Menopause ,Postmenopause ,medicine.anatomical_structure ,Hysteroscopy ,Pediatrics, Perinatology and Child Health ,medicine.symptom ,business ,medicine.drug - Abstract
Objetivos: comparar os efeitos endometriais e no padrão de sangramento uterino de tratamento com (1) sistema intrauterine com levonorgestrel (SIULNG) e estradiol (1 mg/dia, v.o.) ou (2) associação oral de drospirenona (DRSP) (2 mg/dia) e estradiol (1 mg/dia). Métodos: trinta e quatro pacientes (idade 52,53 ± 4,44 grupo SIU-LNG e 53,15 ± 4,018 grupo DRSP) foram randomizadas. A gravidade dos sintomas menopausais foi avaliado pelo índice de Kupperman a cada três meses. Ultrassom transvaginal, histeroscopia e avaliação histológica foram repetidos após 12 meses. Durante este período, as pacientes fizeram registros em calendários menstruais. Todas as variáveis categóricas foram descritas como porcentagens. Variáveis foram testadas para distribuição normal e teste t de Student para amostras independents e ANOVA para medidas repetidas foram utilizados quando apropriado. Significância estatística foi considerada para p
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- 2013
29. Fatores associados à mortalidade em recém-nascidos com gastrosquise
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Kelli Wagner Gomes, Jose Antonio de Azevedo Magalhães, Haley Calcagnotto, Ana Lúcia Letti Müller, Júlio César Loguercio Leite, and Maria Teresa Vieiro Sanseverino
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medicine.medical_specialty ,Birth weight ,Infant, low birth weight ,Sepse ,Mortalidade perinatal ,Prematuro ,Sepsis ,Medicine ,Perinatal mortality Infant ,Perinatal mortality ,Gastrosquise ,Gastroschisis ,Cirurgia ,Fatores de risco ,business.industry ,Obstetrics ,Mortality rate ,Obstetrics and Gynecology ,Gestational age ,Estudos de coortes ,Retrospective cohort study ,Gynecology and obstetrics ,Recém-nascido ,medicine.disease ,Infant, premature ,Surgery ,Low birth weight ,RG1-991 ,Apgar score ,medicine.symptom ,business ,Recém-nascido de baixo peso ,Cohort study - Abstract
OBJETIVO: Analisar a taxa de mortalidade perinatal dos casos de gastrosquise e os possíveis fatores associados. MÉTODOS: Foi realizado estudo de coorte retrospectivo entre 1992 e 2012. Foram incluídos todos os casos de gastrosquise nascidos no Hospital de Clínicas de Porto Alegre (HCPA) naquele período. O diagnóstico de gastrosquise foi obtido por meio do exame ultrassonográfico morfológico ou pelo exame clínico ao nascimento nos casos desconhecidos no pré-natal. As variáveis de nascimento (peso ao nascer, idade gestacional e escore de Apgar, modo de parto, tipo de gastrosquise e anomalias associadas) e cirúrgicas (tipo de fechamento cirúrgico, reintervenção e sepse) foram comparadas entre os casos sobreviventes e os óbitos. Os resultados desta comparação foram analisados de acordo com o tipo de variável por meio de testes paramétricos e não paramétricos (Mann- Whitney ou teste t de Student, χ2 ou teste exato de Fisher) sendo considerado o nível de significância de 5% (p=0,05). RESULTADOS: Foram incluídos 64 recém-nascidos com gastrosquise, 59 deles (92,2%) diagnosticados durante o pré-natal. Vinte e seis casos (40,6%) tinham somente intestino exposto, classificados como gastrosquise simples, 22 tinham intestino e estômago (34,4%) e 16 tinham intestino e outros órgãos (25%), totalizando 38 casos de gastrosquise complexa. O reparo cirúrgico primário foi realizado em 44 casos (68,8%). A mortalidade foi de 23,4% (15 mortes). Os casos de óbito tinham peso ao nascer (p=0,001), escore de Apgar (p=0,03) e idade gestacional (p=0,03) significativamente menores que os sobreviventes. Não houve diferença no modo de parto (p=0,8) e, com relação ao conteúdo eviscerado, não houve diferença entre os casos de gastrosquise simples e complexa (p=0,06). A mortalidade foi significativamente mais elevada entre os casos que necessitaram de reintervenção (p=0,001) e com sepse (p=0,008). CONCLUSÃO: A mortalidade perinatal da gastrosquise parece depender principalmente da prematuridade, baixo peso e complicações cirúrgicas. PURPOSE: To analyze the perinatal mortality rate in cases of gastroschisis and possible associated factors. METHODS: A retrospective cohort study was conducted between 1992 and 2012. All cases of gastroschisis born in Hospital de Clínicas de Porto Alegre (HCPA) during that period were included. The diagnosis of gastroschisis was obtained by morphological ultrasound examination or clinical examination at birth in prenatally unknown cases. The variables of birth (birthweight, gestational age and Apgar score, mode of delivery, type of gastroschisis and associated anomalies) and the surgical ones (type of surgical closure, reintervention and sepsis) were compared between surviving cases and deaths. The results of this comparison were analyzed according to the type of variable using parametric and non-parametric tests (Mann-Whitney or Student’s t-test, χ2 or Fisher’s exact test), with the level of significance set at 5% (p=0.05). RESULTS: Sixty-four newborns with gastroschisis were included, 59 of them (92.2%) diagnosed during the prenatal period. Twenty-six patients (40.6%) had only exposed intestines, classified as simple gastroschisis, 22 had exposure of the intestines and stomach (34.4%) and 16 had exposure of the intestine and other organs (25%), for a total of 38 cases of complex gastroschisis. Primary surgical repair was performed in 44 cases (68.8%). The mortality rate was 23.4% (15 deaths). Babies who died had significantly lower birth weight (p=0.001), gestational age (p=0.03) and Apgar score (p=0.03) than survivors. There was no difference in mode of delivery (p=0.8) and, with respect to gut contents, there was no difference between the cases of simple and complex gastroschisis (p=0.06). Mortality was significantly higher in patients with sepsis (p=0.008) and reintervention (p=0.001). CONCLUSION: in the present study, perinatal mortality due to gastroschisis seemed to depend mainly on prematurity, low birth weight, and surgical complications.
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- 2013
30. Nonimmune hydrops fetalis : two decades of experience in a university hospital
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Lucas Mohr Patusco, Patricia Martins Moura Barrios, Alessandra Fritsch, Maria Teresa Vieira Sanseverino, Ana Lúcia Letti Müller, Rejane Gus Kessler, and Jose Antonio de Azevedo Magalhães
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Pediatrics ,medicine.medical_specialty ,Hidropsia fetal ,Ultrasonography, prenatal ,Prenatal diagnosis ,Hidropsia fetal/etiologia ,Feto ,Feto/anatomia & histologia ,Fetus ,Hydrops fetalis ,medicine ,Survival rate ,Diagnóstico pré-natal ,Pregnancy ,medicine.diagnostic_test ,business.industry ,Obstetrics and Gynecology ,Cystic hygroma ,Retrospective cohort study ,medicine.disease ,Surgery ,Complicações na gravidez ,Hidropsia fetal/ultrassonografia ,Anatomia e histologia ,Hidropisia fetal ,Pregnancy complications ,Etiology ,Syphilis ,Ultrassonografia pré-natal ,business ,Fetal echocardiography ,Hidropisia fetal/diagnóstico - Abstract
OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ2 para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado. PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ2 test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
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- 2012
31. The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation
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Maria Teresa Vieira Sanseverino, Roberto Giugliani, Rejane Gus Kessler, Jose Antonio de Azevedo Magalhães, Mariluce Riegel, and Sandra Leistner-Segal
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Pregnancy ,Fetus ,medicine.medical_specialty ,Amniotic fluid ,medicine.diagnostic_test ,business.industry ,Obstetrics ,Chorionic villus sampling ,Prenatal diagnosis ,Karyotype ,medicine.disease ,medicine ,Amniocentesis ,Etiology ,business - Abstract
The development of conventional cytogenetic techniques in the 50’s leaded to a rapid increase of the knowledge on the etiology of malformation syndromes, being chromosomal anomalies reported as the most common genetic condition in humans (Pena, 1998). Around 2-3% of newborns may have congenital malformations, and from those, just 20% have an established etiology (genetic or environmental), being 80% of these multifactorial or unknown (Stevenson & Hall, 2006). But this is only the tip of the iceberg, as probably half of the human concepts may have some kind of chromosomal defect (A. Boue & J. Boue, 1973), indicating that cytogenetic analysis is fundamental for the investigation of these cases. Since the 70’s, prenatal diagnosis for detecting cytogenetic abnormalities has become a routine procedure in many countries, and an important tool for the prevention of birth of handicapped children (A. Milunsky & J. Milunsky, 1998). Cytogenetic analysis is an important component of invasive prenatal diagnosis as chromosomal abnormalities are detected in about 1 in 200 newborns and constitute a major cause of mental retardation and congenital malformations (Shaffer & Lupski, 2000). Microscopic chromosome analysis of cultured cells has been regarded as the gold standard method for prenatal diagnosis, since its first application to prenatal testing in 1966 by Steele and Breg (Steele & Breg, 1966) and the routine use of chromosome banding analysis in 1970s. Karyotyping has proved to be highly reliable for diagnosis of numerical chromosome abnormalities and structural rearrangements in fetal cells obtained invasively by either amniocentesis in the second trimester of pregnancy, or chorionic villus sampling (CVS) in the first trimester, since the early 1980s. The diagnostic accuracy of karyotyping fetal cells from cultured amniotic fluid (AF) has been found to be 99.4%-99.8%, and that of CVS 97.5-99.6%. However, the main limitation of karyotyping is the requirement of a cell culture, resulting in a period of 10-14 days for obtaining the final results (Bui, 2007). Furthermore, the success of cell culture depends on many factors: very good laboratory conditions for tissue culture, technician’s experience, and satisfactory cell growth with good quality of metaphases. Unfortunately, due to failure in one of these steps the whole process becomes jeopardized.
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- 2011
32. Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital
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Maria Teresa Vieira Sanseverino, Sandra Leistner-Segal, Rejane Gus Kessler, Roberto Giugliani, and Jose Antonio de Azevedo Magalhães
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medicine.medical_specialty ,Amniotic fluid ,lcsh:QH426-470 ,Prenatal diagnosis ,Biology ,Genética humana ,Genetics ,medicine ,Hospitais públicos ,Molecular Biology ,Diagnóstico pré-natal ,Fetus ,prenatal diagnosis ,Obstetrics ,Chromosome ,Cystic hygroma ,medicine.disease ,Genética médica ,lcsh:Genetics ,medicine.anatomical_structure ,chromosomal abnormalities ,Cell-free fetal DNA ,fetal malformations ,Public hospital ,Chorionic villi - Abstract
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in Brazil, the information gained in assessing the prognosis of on-going pregnancies or estimating recurrence risks justifies prenatal diagnosis of chromosome abnormalities. We conclude that, in keeping with the policy in most other countries, prenatal cytogenetic analysis is strongly recommended in high-risk pregnancies for fetal abnormalities. However, the unique aspect of this type of study is not its rarity in world terms, but its rarity in Brazil. This argues that Brazilian health policy on prenatal diagnosis requires reforming to make it much more widely available within the public health care sector.
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- 2008
33. Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene
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Maria Teresa Vieira Sanseverino, Jose Antonio de Azevedo Magalhães, Lavinia Schuler-Faccini, Paul Gissen, A. O. Sordi, and C. F. M. de Souza
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Male ,medicine.medical_specialty ,ARC SYNDROME ,Vesicular Transport Proteins ,Cholestasis, Intrahepatic ,Cholestasis ,Internal medicine ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Gene ,Increased nuchal translucency ,Arthrogryposis ,Pregnancy ,Fetus ,Radiological and Ultrasound Technology ,Portugal ,Specific mutation ,Obstetrics ,business.industry ,Homozygote ,Obstetrics and Gynecology ,Infant ,General Medicine ,Syndrome ,medicine.disease ,Endocrinology ,Kidney Tubules ,Reproductive Medicine ,Mutation ,Kidney Diseases ,medicine.symptom ,business ,Nuchal Translucency Measurement - Published
- 2006
34. Severe fetal hydrocephalus with and without neural tube defect: a comparative study
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Ricardo Palma-Dias, J. M. R. Schmitt, P. M. M. Barrios, Denise Schlatter, M. T. V. Sanseverino, Alessandra Fritsch, Jose Antonio de Azevedo Magalhães, and R. G. Kessler
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Embryology ,Pediatrics ,medicine.medical_specialty ,Heart disease ,macromolecular substances ,Central nervous system disease ,Lateral ventricles ,Pregnancy ,medicine ,Ventriculitis ,Humans ,Radiology, Nuclear Medicine and imaging ,Neonatology ,Neural Tube Defects ,Retrospective Studies ,Fetus ,Neural tube defect ,medicine.diagnostic_test ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Gestational age ,Infant ,General Medicine ,medicine.disease ,Surgery ,Hydrocephalus ,Fetal Diseases ,Pediatrics, Perinatology and Child Health ,Gestation ,Female ,business ,Fetal echocardiography ,Follow-Up Studies - Abstract
Objective: To describe the main perinatal and 1-year outcomes in babies with a prenatal ultrasonographic diagnosis of severe hydrocephalus according to the presence or absence of a neural tube defect (NTD) in a country where abortion is illegal. Method: The study population consisted of cases referred to and delivered at Hospital de Clínicas de Porto Alegre, diagnosed between January 1993 and December 2001. The diagnosis of severe hydrocephalus was based on a lateral ventricular atrium diameter ≧15 mm in at least one hemisphere. Results: Sixty cases were ascertained: 28 with NTD (group 1) and 32 without NTD (group 2). The groups were similar in terms of maternal and child variables at birth and hospitalization days during the 1st year of life. The mortality (including intrauterine deaths and deaths of babies with malformations incompatible with life that characterize a very poor prognosis) until 1 year of age was 36% in group 1 and 59% in group 2 (p = 0.077). The rate of cardiac malformations was higher in the group without NTD (p = 0.015). The length of hospital stay after birth (1st admission) was significantly higher in the group with NTD (p = 0.007). Conclusions: The morbidity was higher in the group with NTD, possibly due to the higher number of surgical interventions in the central nervous system. However, the mortality was higher in the group without NTD, possibly due to the presence of other associated malformations, especially congenital heart disease. Further studies should focus on neurological function and quality of life of the children and their families at the end of the 1st year and after 2 or 6 years of age.
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- 2006
35. Anthropometrical measurements and maternal visceral fat during first half of pregnancy: a cross-sectional survey
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Daniela Cortés Kretzer, Salete Matos, Lisia Von Diemen, José Antônio de Azevedo Magalhães, Alice Carvalhal Schöffel, Marcelo Zubaran Goldani, Alexandre da Silva Rocha, and Juliana Rombaldi Bernardi
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Anthropometry ,Pregnant women ,Mid-upper arm circumference ,Body mass index ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Background Determining anthropometric measures that indicate different fat deposits can be useful to predict metabolic risk and set specific treatment goals, reducing negative consequences for maternal and fetal health. In cases where pre-gestational weight measure and subsequent body mass index (BMI) values cannot be determined, other anthropometric measurements may be ideal for measuring the nutritional status of pregnant women, especially in low- and middle-income countries. This study aims to identify which anthropometric measurements correlate better with the maternal fat deposits measured by ultrasound. Methods A cross-sectional study was conducted with pregnant women from the city of Porto Alegre (city), capital of Rio Grande do Sul (state), southern Brazil, from October 2016 until January 2018. Anthropometrical variables (weight, height, mid-upper arm circumference [MUAC], circumferences of calf and neck and triceps skinfolds [TSF] and subscapular skinfolds [SBSF]), and ultrasound variables (visceral adipose tissue [VAT] and total adipose tissue [TAT]) were collected. To verify the correlation of anthropometric and ultrasound measurements, a non-adjusted and adjusted Spearman correlation was used. The study was approved by the ethics committees. Results The age median of the 149 pregnant women was 25 years [21–31], pre-pregnancy BMI was 26.22 kg/m² [22.16–31.21] and gestational age was 16.2 weeks [13.05–18.10]. The best measurements correlated with VAT and TAT were MUAC and SBSF, both of which showed a higher correlation than pre-pregnancy BMI. Conclusions It is possible to provide a practical and reliable estimate of VAT and TAT from the anthropometric evaluation (MUAC or SBSF) that is low cost, efficient and replicable in an outpatient clinic environment, especially in low- and middle-income countries.
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- 2020
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36. P40 Description of a Brazilian case of atelosteogenesis II: from prenatal to preimplantation diagnosis
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Mariangela Badalotti, L. Mittaz-Crettol, M.T.V. Sanseverino, D. Cavalcanti, Jose Antonio de Azevedo Magalhães, J. Cuzzi, L. Okada, R. Azambuja, R. Petracco, and Alvaro Petracco
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medicine.medical_specialty ,Reproductive Medicine ,Atelosteogenesis ,Obstetrics ,business.industry ,medicine ,Obstetrics and Gynecology ,business ,Developmental Biology - Published
- 2012
37. Follow-up of Toxoplasmosis during Pregnancy: Ten-Year Experience in a University Hospital in Southern Brazil
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Amanda Andrade Diesel, Suzana de Azevedo Zachia, Ana Lúcia Letti Müller, Amanda Vilaverde Perez, Flavio Antonio de Freitas Uberti, and José Antônio de Azevedo Magalhães
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toxoplasmosis ,congenital infection ,fetal infection ,congenital toxoplasmosis ,pharmacodermia ,Gynecology and obstetrics ,RG1-991 - Abstract
Abstract Objective To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up. Methods Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded. Results A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications. Conclusions The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment.
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- 2019
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38. OP06.18: Prenatal diagnosis of non-immune hydrops fetalis
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O. A. Magalhaes, A. Fritsch, Maria Teresa Vieira Sanseverino, R. Gus, P. M. M. Barrios, Jose Antonio de Azevedo Magalhães, Maira Graeff Burin, and Ricardo dos Santos Palma Dias
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Fetus ,medicine.medical_specialty ,genetic structures ,Radiological and Ultrasound Technology ,medicine.diagnostic_test ,Obstetrics ,business.industry ,Obstetrics and Gynecology ,Gestational age ,Reference range ,Prenatal diagnosis ,General Medicine ,Immune hydrops fetalis ,medicine.anatomical_structure ,Reproductive Medicine ,Placenta ,embryonic structures ,medicine ,Gestation ,Radiology, Nuclear Medicine and imaging ,Cardiotocography ,business ,circulatory and respiratory physiology - Abstract
26.3 weeks of gestation. Other 4 women were referred to our University hospital because of maternal trauma. Mean gestational age was 28.6. In all the fetuses the MCA-PSV was >1.5 MoM according to the reference range of Mari et al, and showed sinusoidal pattern during cardiotocography. Mean time of delivery has been of 47 hours because of abruptio placenta. In the other 4 women the MCA-PSV was normal as well as the cardiotocography pattern and delivered in a mean time of 8 hours because of acute abruptio placenta. Conclusion: MCA-PSV has a great sensibility in the prediction of fetal anemia, in case of maternal-fetal hemorrhage the fetuses may be anemic in case of chronic bleeding from the placenta, while in case the bleeding is acute MCA-PSV is usually normal. Thus the assessment of the MCA-PSV may be helpful to look for sign of fetal anemia in case of maternal-fetal hemorrhage.
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- 2006
39. Maternal visceral adipose tissue during the first half of pregnancy predicts gestational diabetes at the time of delivery - a cohort study.
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Alexandre da Silva Rocha, Juliana Rombaldi Bernardi, Salete Matos, Daniela Cortés Kretzer, Alice Carvalhal Schöffel, Marcelo Zubaran Goldani, and José Antônio de Azevedo Magalhães
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Medicine ,Science - Abstract
BACKGROUND:Gestational diabetes mellitus (GDM) is a common condition, often associated with high maternal and fetal morbidity. The use of new tools for early GDM screening can contribute to metabolic control to reduce maternal and fetal risk. This study aimed to ascertain whether maternal visceral adipose tissue (VAT) measurement by ultrasound during the first half of pregnancy can predict the occurrence of GDM during the third trimester. METHODS:A prospective cohort study of 133 pregnant women with gestational age ≤20 weeks in an outpatient setting. VAT depth was measured by ultrasound at the maternal periumbilical region. GDM status was obtained through hospital charts during hospitalization to delivery. A Receiver Operator Characteristic (ROC) curve was used to determine the optimum threshold to predict GDM. RESULTS:According to the ROC curve, a 45mm threshold was identified as the best cut-off value, with 66% of accuracy to predict GDM. Crude and adjusted odds ratios (OR) for GDM were 13.4 (95%CI 2.9-61.1) and 8.9 (95%CI 1.9-42.2), respectively. A similar result was obtained among pre-gravid non-obese women, with crude and adjusted OR of 16.6 (95%CI 1.9-142.6) and 14.4 (95%CI 1.7-125.7), respectively. Among pre-gravid obese patients, a 45mm threshold did not reach statistical significance to predict GDM. CONCLUSION:The high and significant OR found before and after adjustments provides additional evidence of a strong association between VAT and GDM. It appears that VAT measurement during the first half of pregnancy has great potential in identifying non-obese women at high risk for GDM. This evidence can assist obstetricians in correctly allocating resources among populations of pregnant women at risk, determined not only by pre-gravid body mass index (BMI).
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- 2020
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40. Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21
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Caroline Soares Cristofari Emer, Julio Alejandro Peña Duque, Ana Lúcia Letti Müller, Rejane Gus, Maria Teresa Vieira Sanseverino, André Anjos da Silva, and José Antonio de Azevedo Magalhães
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Feto/anormalidades ,Ultrassonografia pré-natal ,Aberrações cromossômicas ,Trissomia ,Aneuploidia ,Gynecology and obstetrics ,RG1-991 - Abstract
OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p
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- 2015
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41. Fatores associados à mortalidade em recém-nascidos com gastrosquise
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Haley Calcagnotto, Ana Lúcia Letti Müller, Julio Cesar Loguercio Leite, Maria Teresa Vieiro Sanseverino, Kelli Wagner Gomes, and José Antonio de Azevedo Magalhães
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Gastrosquise ,Mortalidade perinatal ,Recém-nascido de baixo peso ,Prematuro ,Sepse ,Gynecology and obstetrics ,RG1-991 - Abstract
OBJETIVO: Analisar a taxa de mortalidade perinatal dos casos de gastrosquise e os possíveis fatores associados. MÉTODOS: Foi realizado estudo de coorte retrospectivo entre 1992 e 2012. Foram incluídos todos os casos de gastrosquise nascidos no Hospital de Clínicas de Porto Alegre (HCPA) naquele período. O diagnóstico de gastrosquise foi obtido por meio do exame ultrassonográfico morfológico ou pelo exame clínico ao nascimento nos casos desconhecidos no pré-natal. As variáveis de nascimento (peso ao nascer, idade gestacional e escore de Apgar, modo de parto, tipo de gastrosquise e anomalias associadas) e cirúrgicas (tipo de fechamento cirúrgico, reintervenção e sepse) foram comparadas entre os casos sobreviventes e os óbitos. Os resultados desta comparação foram analisados de acordo com o tipo de variável por meio de testes paramétricos e não paramétricos (Mann-Whitney ou teste t de Student, χ² ou teste exato de Fisher) sendo considerado o nível de significância de 5% (p=0,05). RESULTADOS: Foram incluídos 64 recém-nascidos com gastrosquise, 59 deles (92,2%) diagnosticados durante o pré-natal. Vinte e seis casos (40,6%) tinham somente intestino exposto, classificados como gastrosquise simples, 22 tinham intestino e estômago (34,4%) e 16 tinham intestino e outros órgãos (25%), totalizando 38 casos de gastrosquise complexa. O reparo cirúrgico primário foi realizado em 44 casos (68,8%). A mortalidade foi de 23,4% (15 mortes). Os casos de óbito tinham peso ao nascer (p=0,001), escore de Apgar (p=0,03) e idade gestacional (p=0,03) significativamente menores que os sobreviventes. Não houve diferença no modo de parto (p=0,8) e, com relação ao conteúdo eviscerado, não houve diferença entre os casos de gastrosquise simples e complexa (p=0,06). A mortalidade foi significativamente mais elevada entre os casos que necessitaram de reintervenção (p=0,001) e com sepse (p=0,008). CONCLUSÃO: A mortalidade perinatal da gastrosquise parece depender principalmente da prematuridade, baixo peso e complicações cirúrgicas.
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- 2013
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42. Hidropisia fetal não imune: experiência de duas décadas num hospital universitário Nonimmune hydrops fetalis: two decades of experience in a university hospital
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Alessandra Fritsch, Ana Lúcia Letti Müller, Maria Teresa Vieira Sanseverino, Rejane Gus Kessler, Patricia Martins Moura Barrios, Lucas Mohr Patusco, and José Antonio de Azevedo Magalhães
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Hidropisia fetal ,Hidropsia fetal ,Ultrassonografia pré-natal ,Complicações na gravidez ,Diagnóstico pré-natal ,Feto ,Hydrops fetalis ,Ultrasonography, prenatal ,Pregnancy complications ,Prenatal diagnosis ,Fetus ,Gynecology and obstetrics ,RG1-991 - Abstract
OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ² para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado.PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.
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- 2012
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43. The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital
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Maria Teresa Vieira Sanseverino, Charles Francisco Ferreira, Julio Alejandro Peña Duque, Rejane Gus, Suzana de Azevedo Záchia, and Jose Antonio de Azevedo Magalhães
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0106 biological sciences ,0301 basic medicine ,medicine.medical_specialty ,lcsh:QH426-470 ,Genetic counseling ,Prenatal diagnosis ,Prenatal care ,Biology ,01 natural sciences ,Miscarriage ,03 medical and health sciences ,Genetics ,medicine ,trisomy 18 ,Molecular Biology ,trisomy 13 ,Pregnancy ,prenatal diagnosis ,genetic counseling ,Obstetrics ,Medical record ,Articles ,medicine.disease ,Natural history ,lcsh:Genetics ,030104 developmental biology ,Trisomy ,Natural history of trisomy ,010606 plant biology & botany - Abstract
Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent’s autonomy and to look for better outcomes for both, the mother and the fetus.
44. The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital
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Julio Alejandro Peña Duque, Charles Francisco Ferreira, Suzana de Azevedo Zachia, Maria Teresa Vieira Sanseverino, Rejane Gus, and José Antônio de Azevedo Magalhães
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Natural history of trisomy ,trisomy 13 ,trisomy 18 ,prenatal diagnosis ,genetic counseling ,Genetics ,QH426-470 - Abstract
Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent’s autonomy and to look for better outcomes for both, the mother and the fetus.
- Full Text
- View/download PDF
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