Anormalidades cardiovasculares e metabólicas em pacientes com a síndrome de Berardinelli-Seip Anormalidades cardiovasculares y metabólicas en pacientes con el síndrome de Berardinelli-Seip Cardiometabolic abnormalities in patients with berardinelli-Seip syndrome

Autor: Antonio Guedes do Rêgo, Evandro Tinoco Mesquita, Carlos Alberto de Faria, Marcel Álvares Guedes do Rêgo, Maria de Fátima Paiva Baracho, Maria Goretti do Nascimento Santos, Eryvaldo Sócrates Tabosa do Egito, José Brandão Neto

Publikováno v: Arquivos Brasileiros de Cardiologia, Vol 94, Iss 1, Pp 109-118 (2010)

FUNDAMENTO: A síndrome de Berardinelli-Seip (SBS) ou lipodistrofia generalizada congênita acomete, frequentemente, o aparelho cardiovascular e também promove anormalidades metabólicas que envolvem os metabolismos glicídico e lipídico. OBJETIVO:

Externí odkaz: https://doaj.org/article/6f2f0a45bcc34a9ca7274d59de6620b7

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy

Autor: Francisco Paulo Freire Neto, Debora Nobrega Lima, Pedro Henrique Dantas Silva, Maria de Fátima Paiva Baracho, Julliane Tamara Araújo de Melo Campos, Marcel Catão Ferreira dos Santos, Josivan Gomes de Lima, Natalia Nobrega de Lima, Leonardo Capistrano Ferreira, Selma M. B. Jeronimo, Lúcia Helena Coelho Nóbrega, Carolina de O. Mendes-Aguiar

Publikováno v: PLoS ONE
PLoS ONE, Vol 13, Iss 6, p e0199052 (2018)

Introduction Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7699a8a24f299f6b667e0e065971bdcd
https://pubmed.ncbi.nlm.nih.gov/29883474

Contents Vol. 65, 2014

Autor: Kathryn E. Ackerman, Christina M. Fajardo, Vincent Sapin, Khadijeh Jamialahmadi, Xiao-xia Liu, Nathalie Meunier, Eliane de Abreu Soares, Bang-Dang Chen, Beatriz de la Fuente, Druckerei Stückle, Nedasadat Hosseini, Tatiana A. Ivanushkina, Maria de Fátima Paiva Baracho, Hong-ying Ye, Karl Wolfschläger, Xiang Ma, Rosario D.C. Hirata, Patrice Faure, Houshang Zaim-Kohan, Gilly A. Hendrie, Isabelle Papet, Marina de Figueiredo Ferreira, Seyed Alireza Parizadeh, Hannah Clarke, Bernardo L. Wajchenberg, Pilar Galan, Kamryn T. Eddy, Zhao-yun Zhang, Mathilde Touvier, Lindsey Eisenbach, Margit Hausmann, Olatz Izaola, Xiao-Mei Li, Chun-Hui He, Chantal Julia, Hassan Rooki, Majid Ghayour-Mobarhan, Gordon A. Ferns, Johannes Erdmann, Shuo Pan, Javad Mohiti-Ardakani, Yi-ming Li, Maria de Lourdes Eguiguren, Míriam Raquel Meira Mainenti, Beatriz Gonçalves Ribeiro, Vibha Singhal, Rosario Bachiller, Xiao-ming Zhu, Adriana B. Nunes, José Brandão-Neto, Rocío Aller, Qing Miao, Ali Masoudi, Satz Mengensatzproduktion, Rebecca K. Golley, Maria Goretti do Nascimento Santos, Yi-Tong Ma, Zhen-Yan Fu, Seyed Reza Mirhafez, Maria V. Gmoshinskaya, Mohsen Moohebati, Meghan Slattery, D.A. de Luis, Natalia M. Shilina, Noël Cano, Mario H. Hirata, Stefan Wagenpfeil, Volker Schusdziarra, Luiz A. De Marco, Serge Hercberg, Fen Liu, David Pacheco, Xiang Xie, Patrícia dos Santos Vigário, Ying-Ying Zheng, Ainá Innocencio da Silva Gomes, Igor Ya Kon, Madhusmita Misra, Emmanuelle Kesse-Guyot, Yi-Ning Yang

Publikováno v: Annals of Nutrition and Metabolism. 65:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8a2cb5a193bfb9e40327bf7281cfdc9
https://doi.org/10.1159/000369602

Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome

Autor: Naira Josele Neves de Brito, Maria das Graças Almeida, Maria Goretti do Nascimento Santos, Érika Dantas de Medeiros Rocha, Sancha Helena de Lima Vale, Samanta Cristina Chiquetti, Mardone Cavalcante França, Lúcia Dantas Leite, José Brandão-Neto, Maria de Fátima Paiva Baracho, Julio Sérgio Marchini

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Berardinelli-Seip syndrome (BSS) is a very rare disorder characterized by near-complete absence of adipose tissue from birth or early infancy, hypoleptinemia, hypertriglyceridemia, insulin resistance, diabetes mellitus, and other clinical signals. It

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d54511435bb195a199d103b25c96b6
https://doi.org/10.1016/j.jtemb.2011.11.002

Mutations inGng3lgandAGPAT2in Berardinelli-Seip Congenital Lipodystrophy and Brunzell Syndrome: Phenotype Variability Suggests Important Modifier Effects

Autor: Alan R. Shuldiner, Francesco S. Celi, Sandra M.F. Villares, Maria de Fátima Paiva Baracho, Mao Fu, Rasa Kazlauskaite, Maria Goretti do Nascimento Santos, José Brandão-Neto, Bernardo Léo Wajchenberg

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 89:2916-2922

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome. We found mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::585188ed06e5daca5f42bc2ad3eef05f
https://doi.org/10.1210/jc.2003-030485