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1. Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges

Author

Schuler-Faccini, Lavínia, de Menezes Karam, Simone, Vieira Sanseverino, Maria Teresa, Barbian, Marcia Helena, Gomes, Julia do Amaral, Bremm, João Matheus, Cardoso-dos-Santos, Augusto César, Lorea, Claudia Fernandes, Donis, Karina Carvalho, Rohweder, Ricardo, Cardoso-Junior, Laércio Moreira, do Carmo, Julia Cavalcante, Corecco-Moura, Paulyana dos Santos, de Oliveira, Fabyanne Guimarães, de Oliveira, Rayhele Rodrigues, Prazeres, Vânia Mesquita Gadelha, da Silva, Juliana Herrero, Muniz, Nitza Ferreira, Babalola, Ayoade Desmond, Krieck, Laysa Kariny, de Souza, Angel Larroza, Ataíde, Emilly de Jesus Garcia, Oliveira, Lucia Andreia Nunes de, and França, Giovanny Vinícius de Araújo

Published
2025
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2. Diagnóstico pré-natal: avanços e perspectivas

Author

Vieira Sanseverino, Maria Teresa, G. Kessler, Rejane, G. Burin, Maira, R. Stein, Nina, F. Herman, Rafaela, Matte, Ursula, M. M. Barrios, Patrícia, and A. Magalhães, José

Subjects
genetic counseling, cromossomopatias, malformações congênitas, aconselhamento genético, erros inatos do metabolismo, Prenatal diagnosis, chromosomal anomalies, inborn errors of metabolism, Diagnóstico pré-natal, congenital malformations
Abstract

OBJECTIVE: The development of laboratorial techniques for the prenatal diagnosis of genetic diseases was a great step for clinical genetics, changing reproductive perspectives of high risk families. At Hospital de Clínicas de Porto Alegre (HCPA), the prenatal diagnosis program is part of the Fetal Medicine Group, which includes several professionals of different areas. The main objective of this group is to study, evaluate, diagnose and advice high risk pregnant women. The aim of the present study is to review the main procedures for the prenatal diagnosis and to show the results of our sample regarding the laboratory analysis offer to the pregnant women. MATERIALS AND METHODS: From January 1989 to July 2001, karyotypes were performed for 613 pregnancies, metabolic studies were carried out in 86 pregnancies and molecular analysis was performed for four cases. Prenatal genetic counseling was given to 1,378 families. RESULTS: The prenatal diagnosis of genetic diseases accomplished at HCPA reached a culture growth rate of 98%, which is similar to the result of developed countries. CONCLUSIONS: The prenatal diagnosis is an important tool for the families that are likely to have fetal anomalities. New techniques of diagnosis are being introduced at HCPA, and they will contribute even more to the treatmento of these families. Future prospectives and ethical aspects for prenatal diagnosis are also discussed., OBJETIVO: O desenvolvimento de técnicas para diagnosticar as condições genéticas intra-útero foi um grande avanço na genética clínica, mudando a perspectiva reprodutiva de famílias de risco. No Hospital de Clínicas de Porto Alegre (HCPA), o programa de diagnóstico pré-natal (DPN) de anomalias congênitas faz parte do Grupo de Medicina Fetal, que é composto por uma equipe multidisciplinar, cuja meta principal é estudar, analisar, diagnosticar e aconselhar as gestantes de alto risco. O trabalho apresentado aqui tem como objetivos revisar os principais procedimentos de diagnóstico pré-natal, descrever a nossa amostra e os exames que são oferecidos às nossas gestantes. MATERIAIS E MÉTODOS: De janeiro de 1989 a julho de 2001, foram cariotipadas 613 gestações, realizadas investigações enzimáticas em 86 casos e em 4 foram realizados estudos moleculares em material fetal. Um total de 1.378 novos casos foram avaliados no ambulatório de DPN do HCPA, de julho de 1993 a julho de 2001, para aconselhamento genético reprodutivo. RESULTADOS: O diagnóstico pré-natal de cromossomopatias realizado no HCPA atingiu uma taxa de crescimento de culturas de 98%, índice semelhante ao dos paísesdesenvolvidos. CONCLUSÕES: O diagnóstico pré-natal é um importante recurso para as famílias com risco de anomalia fetal. Novas técnicas de diagnóstico estão em implantação no HCPA, e poderão contribuir ainda mais para o atendimento dessas famílias. Apresentamos também os aspectos éticos envolvidos e algumas perspectivas futuras na área do diagnóstico pré-natal de anormalidades congênitas.

Published
2022

3. Neurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects.

Author

Schuler-Faccini, Lavínia, Schuler-Faccini, Lavínia, Del Campo, Miguel, García-Alix, Alfredo, Ventura, Liana O, Boquett, Juliano André, van der Linden, Vanessa, Pessoa, André, van der Linden Júnior, Hélio, Ventura, Camila V, Leal, Mariana Carvalho, Kowalski, Thayne Woycinck, Rodrigues Gerzson, Lais, Skilhan de Almeida, Carla, Santi, Lucélia, Beys-da-Silva, Walter O, Quincozes-Santos, André, Guimarães, Jorge A, Garcez, Patricia P, Gomes, Julia do Amaral, Vianna, Fernanda Sales Luiz, Anjos da Silva, André, Fraga, Lucas Rosa, Vieira Sanseverino, Maria Teresa, Muotri, Alysson R, Lopes da Rosa, Rafael, Abeche, Alberto Mantovani, Marcolongo-Pereira, Clairton, Souza, Diogo O, Schuler-Faccini, Lavínia, Schuler-Faccini, Lavínia, Del Campo, Miguel, García-Alix, Alfredo, Ventura, Liana O, Boquett, Juliano André, van der Linden, Vanessa, Pessoa, André, van der Linden Júnior, Hélio, Ventura, Camila V, Leal, Mariana Carvalho, Kowalski, Thayne Woycinck, Rodrigues Gerzson, Lais, Skilhan de Almeida, Carla, Santi, Lucélia, Beys-da-Silva, Walter O, Quincozes-Santos, André, Guimarães, Jorge A, Garcez, Patricia P, Gomes, Julia do Amaral, Vianna, Fernanda Sales Luiz, Anjos da Silva, André, Fraga, Lucas Rosa, Vieira Sanseverino, Maria Teresa, Muotri, Alysson R, Lopes da Rosa, Rafael, Abeche, Alberto Mantovani, Marcolongo-Pereira, Clairton, and Souza, Diogo O

Abstract

Five years after the identification of Zika virus as a human teratogen, we reviewed the early clinical manifestations, collectively called congenital Zika syndrome (CZS). Children with CZS have a very poor prognosis with extremely low performance in motor, cognitive, and language development domains, and practically all feature severe forms of cerebral palsy. However, these manifestations are the tip of the iceberg, with some children presenting milder forms of deficits. Additionally, neurodevelopment can be in the normal range in the majority of the non-microcephalic children born without brain or eye abnormalities. Vertical transmission and the resulting disruption in development of the brain are much less frequent when maternal infection occurs in the second half of the pregnancy. Experimental studies have alerted to the possibility of other behavioral outcomes both in prenatally infected children and in postnatal and adult infections. Cofactors play a vital role in the development of CZS and involve genetic, environmental, nutritional, and social determinants leading to the asymmetric distribution of cases. Some of these social variables also limit access to multidisciplinary professional treatment.

Published
2022

4. Neurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects

Author

Schuler-Faccini, Lavínia, primary, del Campo, Miguel, additional, García-Alix, Alfredo, additional, Ventura, Liana O., additional, Boquett, Juliano André, additional, van der Linden, Vanessa, additional, Pessoa, André, additional, van der Linden Júnior, Hélio, additional, Ventura, Camila V., additional, Leal, Mariana Carvalho, additional, Kowalski, Thayne Woycinck, additional, Rodrigues Gerzson, Lais, additional, Skilhan de Almeida, Carla, additional, Santi, Lucélia, additional, Beys-da-Silva, Walter O., additional, Quincozes-Santos, André, additional, Guimarães, Jorge A., additional, Garcez, Patricia P., additional, Gomes, Julia do Amaral, additional, Vianna, Fernanda Sales Luiz, additional, Anjos da Silva, André, additional, Fraga, Lucas Rosa, additional, Vieira Sanseverino, Maria Teresa, additional, Muotri, Alysson R., additional, Lopes da Rosa, Rafael, additional, Abeche, Alberto Mantovani, additional, Marcolongo-Pereira, Clairton, additional, and Souza, Diogo O., additional

Published
2022
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5. Expression profiles of meiotic genes in male vs. female gonads and gametes: Insights into fertility issues.

Author

Rockenbach, Marília Körbes, Fraga, Lucas Rosa, Kowalski, Thayne Woycinck, and Vieira Sanseverino, Maria Teresa

Subjects
OVUM, MATERNAL age, GENE expression profiling, SPERMATOZOA, GERMINAL vesicles, FERTILITY, REPRODUCTION, FEMALES
Abstract

Gametes are specialized cells that, at fertilization, give rise to a totipotent zygote capable of generating an entire organism. Female and male germ cells undergo meiosis to produce mature gametes; however, sex-specific events of oogenesis and spermatogenesis contribute to specific roles of gametes in reproductive issues. We investigate the differential gene expression (DGE) of meiosis-related genes in human female and male gonads and gametes in normal and pathological conditions. The transcriptome data for the DGE analysis was obtained through the Gene Expression Omnibus repository, comprising human ovary and testicle samples of the prenatal period and adulthood, additionally to male (nonobstructive azoospermia (NOA) and teratozoospermia), and female (polycystic ovary syndrome (PCOS) and advanced maternal age) reproductive conditions. Gene ontology terms related to meiosis were associated with 678 genes, of which 17 genes in common were differentially expressed between the testicle and ovary during the prenatal period and adulthood. Except for SERPINA5 and SOX9, the 17 meiosis-related genes were downregulated in the testicle during the prenatal period and upregulated in adulthood compared to the ovary. No differences were observed in the oocytes of PCOS patients; however, meiosis-related genes were differentially expressed according to the patient's age and maturity of the oocyte. In NOA and teratozoospermia, 145 meiosis-related genes were differentially expressed in comparison to the control, including OOEP; despite no recognized role in male reproduction, OOEP was co-expressed with genes related to male fertility. Taking together, these results shed light on potential genes that might be relevant to comprehend human fertility disorders. [ABSTRACT FROM AUTHOR]

Published
2023
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7. Maternal Outcomes and Risk Factors for Severity Among Pregnant Women With COVID-19: A Case Control Study From the COVI-Preg International Registry

Author

Vouga, Manon, primary, Favre, Guillaume, additional, Martinez Perez, Oscar, additional, Pomar, Leo, additional, Forcen Acebal, Laura, additional, Abascal, Alejandra, additional, Vila Hernandez, Maria Rosa, additional, Hcini, Najeh, additional, Lambert, Véronique, additional, Carles, Gabriel, additional, Sichitiu, Joanna, additional, Salomon, Laurent, additional, Stiremann, Julien, additional, Ville, Yves, additional, Martinez de Tejada, Begoña, additional, Goncé, Anna, additional, Hawkins-Villareal, Ameth, additional, Castillo, Karen, additional, Gratacos Solsona, Eduard, additional, Trigo, Lucas, additional, Cleary, Brian, additional, Geary, Michael, additional, Bartels, Helena, additional, Al-Kharouf, Feras, additional, Malone, Fergal, additional, Higgins, Mary, additional, Keating, Niamh, additional, Knowles, Susan, additional, Poncelet, Christophe, additional, Carvalho, Carolina, additional, Ribeiro-do-Valle, Fernanda, additional, Surita, Garanhani, additional, Dantas-Silva, Amanda, additional, Borrelli, Carolina, additional, Gomes Luz, Adriana, additional, Fuenzalida, Javiera, additional, Carvajal, Jorge, additional, Guerra Canales, Manuel, additional, Hernandez, Olivia, additional, Grechukhina, Olga, additional, Ko, Albert I., additional, Reddy, Uma, additional, Figueiredo, Rita, additional, Moucho, Marina, additional, Viana Pinto, Pedro, additional, De Luca, Carmen, additional, De Santis, Marco, additional, Ayres de Campos, Diogo, additional, Garabedian, Charles, additional, Subtil, Damien, additional, Bohrer, Betania, additional, Da Rocha Oppermann, Maria Lucia, additional, Celeste, Maria, additional, Wender, Osorio, additional, Schuler-Faccini, Lavinia, additional, Vieira Sanseverino, Maria Teresa, additional, Giugliani, Camila, additional, Friedrich, Luciana, additional, Horn Scherer, Mariana, additional, Mottet, Nicolas, additional, Ducarme, Guillaume, additional, Pelerin, Helene, additional, Moreau, Chloe, additional, Breton, Bénédicte, additional, Quibel, Thibaud, additional, Rozenberg, Patrick, additional, Mueller, Doris, additional, Granado, Cristina, additional, Hoesli, Irene, additional, Monod, Cécile, additional, Bassler, Dirk, additional, Heldstab, Sandra, additional, Ochsenbein Kölble, Nicole, additional, Sentilhes, Loïc, additional, Charvet, Melissa, additional, Deprest, Jan, additional, Richter, Jute, additional, Van der Veeken, Lennart, additional, Eggel-Hort, Béatrice, additional, Plantefeve, Gaetan, additional, Derouich, Mohamed, additional, Nieto Calvache, Albaro José, additional, Lopez-Giron, Maria Camila, additional, Burgos-Luna, Juan Manuel, additional, Escobar-Vidarte, Maria Fernanda, additional, Hecher, Kurt, additional, Tallarek, Ann-Christin, additional, Hadar, Eran, additional, Krajden Haratz, Karina, additional, Malinger, Gustavo, additional, Maymon, Ron, additional, Yogev, Yariv, additional, Schäffer, Leonhard, additional, Toussaint, Arnaud, additional, Rossier, Marie-Claude, additional, Moreira de sa, Renato Augusto, additional, Grawe, Claudia, additional, Aebi-Popp, Karoline, additional, Radan, Anda-Petronela, additional, Raio, Luigi, additional, Surbek, Daniel, additional, Böckenhoff, Paul, additional, Strizek, Brigitte, additional, Kaufmann, Martin, additional, Bloch, Andrea, additional, Boulvain, Michel, additional, Johann, Silke, additional, Heldstab, Sandra Andrea, additional, Todesco Bernasconi, Monya, additional, Grant, Gaston, additional, Feki, Anis, additional, Muller Brochut, Anne-Claude, additional, Giral, Marylene, additional, Sedille, Lucie, additional, Papadia, Andrea, additional, Capoccia Brugger, Romina, additional, Weber, Brigitte, additional, Fischer, Tina, additional, Kahlert, Christian, additional, Nielsen Saines, Karin, additional, Cambou, Mary, additional, Kanellos, Panagiotis, additional, Chen, Xiang, additional, Yin, Mingzhu, additional, Haessig, Annina, additional, Baud, David, additional, and Panchaud, Alice, additional

Published
2020
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8. Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum

Author

Preusser Mattos, Eduardo, A. Magalhães, José Antônio, Mittaz-Crettol, Laureane, Azambuja, Ricardo, Okada, Lilian, P. Cavalcanti, Denise, Cuzzi, Juliana, Badalotti, Mariangela, Petracco, Rafaella, Petracco, Alvaro, Schuler-Faccini, Lavinia, and Vieira Sanseverino, Maria Teresa

Subjects
Genetics, Pathology, medicine.medical_specialty, biology, business.industry, Haplotype, Prenatal diagnosis, SLC26A2, medicine.disease, Compound heterozygosity, Preimplantation genetic diagnosis, Atelosteogenesis, type II, medicine, biology.protein, Diastrophic dysplasia, Allele, medicine.symptom, business
Abstract

Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.

Published
2014

9. ENVIRONMENTAL RISK FACTORS ASSOCIATED WITH BILIARY ATRESIA IN RIO GRANDE DO SUL, BRAZIL.

Author

Longo, Larisse, Tonin Ferrari, Jéssica, Weber Hoss, Giovana Regina, Sinigaglia Fratta, Leila Xavier, Gonçalves Vieira, Sandra Maria, da Silveira, Themis Reverbel, de Abreu e Silva, Fernando Antônio, Vieira Sanseverino, Maria Teresa, and dos Santos, Jorge Luiz

Subjects
ENVIRONMENTAL risk assessment, BILIARY atresia, CYSTIC fibrosis
Abstract

Biliary atresia (BA) seems to be a multifactorial disorder in which environmental factors interact with the patient's genetic constitution. This study aimed to analyze information concerning environmental risk factors associated with BA in southern Brazil. A case-control study with mothers of patients with BA and mothers of patients with cystic fibrosis (CF) was conducted. Inquiry included questions related to exposition to environmental risk factors during the periconceptional and gestational (second and third trimesters) periods. Mothers of BA patients had smoked during pregnancy more frequently in comparison with the mothers of CF patients, but no significant difference was found in a multivariate analysis. There was no between group difference in terms of seasonality, but the multivariate analysis showed a significant difference within the BA group between date of conception in winter compared to other seasons. In conclusion, smoking during pregnancy seemed to increase the risk of BA while date of conception in winter decreased it. [ABSTRACT FROM AUTHOR]

Published
2017
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10. Colaboradores

Author

Galão, Adriani Oliveira, Chrisostomo, Adriano Pienaro, Letti Müller, Ana Lúcia, da Cunha, André Campos, Maia, Carlos Roberto, Cluver, Catherine Anne, Silveira dos Santos, Cláudia Simone, Vettori, Daniela Vanessa, Becker, Eduardo, Jr., da Silva Costa, Fabricio, de Castro Rezende, Guilherme, Bianchi Telles, Jorge Alberto, de Azevedo Magalhães, José Antônio, Soares de Fraga, José Carlos, Loguercio Leite, Júlio César, Vedolin, Leonardo Modesti, Teixeira, Lucas Pacini, Schopf, Luciano Ferraz, Menezes Freire, Maíra Cristina, Burin, Maira Graeff, Cardoso da Fonseca, Maria Mercedes, Rivero, Raquel Camara, Pedrazzi Chaves, Maria Teresa, Vieira Sanseverino, Maria Teresa, de Azevedo Magalhães, Otávio, Moura Barrios, Patrícia Martins, Gus, Rejane, dos Santos Palma-Dias, Ricardo, Maia, Sammya Bezerra, Moura, Holanda, Leistner-Segal, Sandra, Junho Pena, Sérgio Danilo, Meagher, Simon, Rosito, Tiago Elias, Preto de Oliveira, Vanessa Lopes, and Monteggia, Vicente

Published
2016
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15. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.

Author

Leitão Ermel, Érica, Caroline Carneiro, Lauriane, Moura de Souza, Carolina Fischinger, de Souza Crippa, Ana Chrystina, Vieira Sanseverino, Maria Teresa, and Raskin, Salmo

Abstract

The article discusses the clinical condition and characterization of two Brazilian epileptic patients with mutations in the CDKL5 gene. One of the patients has atypical Rett syndrome related to abnormalities in the CDKL5 gene. Both patients experienced symptoms of severe developmental delay, axial hypotonia, early onset seizures and hypsarrhythmia. The electroencephalography revealed that the patients have refractory epilepsy with multifocal activity.

Published
2013
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16. Zika virus infection and congenital anomalies in the Americas: opportunities for regional action.

Author

Larrandaburu, Mariela, Luiz Vianna, Fernanda Sales, Anjos da Silva, André, Nacul, Luis, Vieira Sanseverino, Maria Teresa, and Schuler-Faccini, Lavínia

Abstract

The Zika virus (ZIKV) was identified in 1947 in the Zika forest in Uganda, but recently it has emerged as a public health threat. The first evidence of human infection occurred in 1952, but only in April 2007 was the first outbreak in humans recognized. In the Americas, a ZIKV outbreak began in Brazil in 2015, and from the second half of 2015 onward, a substantial number of newborns with severe microcephaly began to be reported to health authorities. In February 2016, the World Health Organization (WHO) declared that the clusters of microcephaly cases in areas affected by ZIKV constituted a Public Health Emergency of International Concern. Seldom has there been such a resultingly vast production of scientific literature in record time. In this report we discuss the impact of ZIKV infection during pregnancy, the diagnosis and surveillance of microcephaly, the recognition of a clinical phenotype of ZIKV congenital infection, and opportunities for public health action. We consider this to be a unique opportunity for countries in the Region of the Americas to develop, strengthen, and improve surveillance systems for congenital anomalies and teratogen information services. Creating health needs assessment tools for low- and middle-income countries may help them to develop effective policies to ensure primary, secondary, and tertiary prevention measures for congenital anomalies. Such initiatives will be useful for ZIKV congenital syndrome control and also for having a much wider impact on a significant proportion of preventable and manageable congenital conditions. [ABSTRACT FROM AUTHOR]

Published
2017
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