• Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation 

  RIVAS, M.P.; AGUIAR, T.F.M.; MASCHIETTO, M.; LEMES, R.B.; CAIRES-JúNIOR, L.C.; GOULART, E.; TELLES-SILVA, K.A.; NOVAK, E.; CRISTOFANI, L.M.; ODONE, V.; CYPRIANO, M.; TOLEDO, S.R.C. de; CARRARO, D.M.; ESCOBAR, M.Q.; LEE, H.; JOHNSTON, M.; COSTA, C.M.L. da; CUNHA, I.W. da; TASIC, L.; PEARSON, P.L.; ROSENBERG, C.; TIMCHENKO, N.; KREPISCHI, A.C.V. (SAGE PUBLICATIONS LTD, 2020)

  Hepatoblastomas exhibit the lowest mutational burden among pediatric tumors. We previously showed that epigenetic disruption is crucial for hepatoblastoma carcinogenesis. Our data revealed hypermethylation of nicotinamide ...
• Comprehensive genetic analysis of 128 candidate genes in a cohort with idiopathic, severe, or familial osteoporosis 

  ROCHA-BRAZ, M.G.M.; FRANçA, M.M.; FERNANDES, A.M.; LERARIO, A.M.; ZANARDO, E.A.; SANTANA, L.S. de; KULIKOWSKI, L.D.; MARTIN, R.M.; MENDONCA, B.B.; FERRAZ-DE-SOUZA, B. (ENDOCRINE SOCIETY, 2020)

  Context: The genetic bases of osteoporosis (OP), a disorder with high heritability, are poorly understood at an individual level. Cases of idiopathic or familial OP have long puzzled clinicians as to whether an actionable ...
• Use of lung ultrasound in neonates during the COVID-19 pandemic 

  MATSUOKA, Marcia Wang; ROCHA, Silvia Maria Sucena da; GIBELLI, Maria Augusta Bento Cicaroni; NICOLAU, Carla Marques; CARVALHO, Werther Brunow de; SUZUKI, Lisa (Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2020)

  Abstract In the current pandemic, caused by infection with severe acute respiratory syndrome coronavirus 2, ultrasound has played a fundamental role in patients who develop the resulting disease, designated coronavirus ...
• KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability 

  MALVEZZI, Joao V. M.; MAGALHAES, Ingrid H.; COSTA, Silvia S.; OTTO, Paulo A.; ROSENBERG, Carla; BERTOLA, Debora R.; FERNANDES, Walter L. M.; VIANNA-MORGANTE, Angela M.; KREPISCHI, Ana C. V. (SPRINGERNATURE, LONDON, ENGLAND, 2018)

  KIF11 mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two children presenting microcephaly, ...
• Transfusion-related acute lung injury associated to intravenous immunoglobulin infusion in a pediatric patient 

  PEGLER, Jose Roberto Mendes; CASTRO, Ana Paula Beltran Moschione; PASTORINO, Antonio Carlos; DORNA, Mayra de Barros (INST ISRAELITA ENSINO & PESQUISA ALBERT EINSTEIN, SAO PAULO SP, BRAZIL, 2020)

  Case report of a patient with an immunodeficiency who demands regular replacement of intravenous immunoglobulin. She presented an episode of transfusion-related acute lung injury shortly after using an immunoglobulin product ...
• Targeted-dose of busulfan: Higher risk of sinusoidal obstructive syndrome observed with systemic exposure dose above 5000 mu Mol min. A historically controlled clinical trial 

  ESTEVES, Iracema; SANTOS, Fabio Pires Souza; RIBEIRO, Andreza Alice Feitosa; SEBER, Adriana; SUGAWARA, Eduardo Kinio; SOBRINHO, Jairo Jose do Nascimento; BARROS, Jose Carlos; OLIVEIRA, Jose Salvador Rodrigues; FERNANDES, Juliana Folloni; HAMERSCHLAK, Nelson; ANDERSSON, Borje S.; LIMA, Marcos de; KERBAUY, Fabio Rodrigues (WILEY, HOBOKEN, USA, 2020)

  Busulfan is given in the conditioning regimens preceding hematopoietic stem cell transplantation (HSCT), and plasma levels can be monitored. A targeted, individualized systemic exposure (SE) dose can be achieved by calculating ...
• The global impact of SARS-CoV-2 in 181 people with cystic fibrosis 

  MCCLENAGHAN, Elliot; COSGRIFF, Rebecca; BROWNLEE, Keith; AHERN, Susannah; BURGEL, Pierre-Regis; BYRNES, Catherine A.; COLOMBO, Carla; CORVOL, Harriet; CHENG, Stephanie Y.; DANEAU, Geraldine; ELBERT, Alexander; FARO, Albert; GOSS, Christopher H.; GULMANS, Vincent; GUTIERREZ, Hector; MONESTROL, Isabelle de; JUNG, Andreas; JUSTUS, Lutz Naehrlich; KASHIRSKAYA, Nataliya; MARSHALL, Bruce C.; MCKONE, Edward; MIDDLETON, Peter G.; MONDEJAR-LOPEZ, Pedro; PASTOR-VIVERO, M. Dolores; PADOAN, Rita; RIZVI, Samar; RUSECKAITE, Rasa; SALVATORE, Marco; STEPHENSON, Anne L.; SILVA FILHO, Luiz Vicente R. da; MELO, Joel; ZAMPOLI, Marco; CARR, Siobhan B. (ELSEVIER, AMSTERDAM, NETHERLANDS, 2020)

  With the growing SARS-CoV-2 pandemic, we need to better understand its impact in specific patient groups like those with Cystic Fibrosis (CF). We report on 181 people with CF (32 post-transplant) from 19 countries diagnosed ...
• Potential impact of individual exposure histories to endemic human coronaviruses on age-dependent severity of COVID-19 

  PINOTTI, Francesco; WIKRAMARATNA, Paul S.; OBOLSKI, Uri; PATON, Robert S.; DAMINELI, Daniel S. C.; ALCANTARA, Luiz C. J.; GIOVANETTI, Marta; GUPTA, Sunetra; LOURENCO, Jose (BMC, LONDON, ENGLAND, 2021)

  Background Cross-reactivity to SARS-CoV-2 from exposure to endemic human coronaviruses (eHCoV) is gaining increasing attention as a possible driver of both protection against infection and COVID-19 severity. Here we explore ...
• Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses 

  UCHIYAMA, Yuri; YAMAGUCHI, Daisuke; IWAMA, Kazuhiro; MIYATAKE, Satoko; HAMANAKA, Kohei; TSUCHIDA, Naomi; AOI, Hiromi; AZUMA, Yoshiteru; ITAI, Toshiyuki; SAIDA, Ken; FUKUDA, Hiromi; SEKIGUCHI, Futoshi; SAKAGUCHI, Tomohiro; LEI, Ming; OHORI, Sachiko; SAKAMOTO, Masamune; KATO, Mitsuhiro; KOIKE, Takayoshi; TAKAHASHI, Yukitoshi; TANDA, Koichi; HYODO, Yuki; HONJO, Rachel S.; BERTOLA, Debora Romeo; KIM, Chong Ae; GOTO, Masahide; OKAZAKI, Tetsuya; YAMADA, Hiroyuki; MAEGAKI, Yoshihiro; OSAKA, Hitoshi; NGU, Lock-Hock; SIEW, Ch'ng G.; TEIK, Keng W.; AKASAKA, Manami; DOI, Hiroshi; TANAKA, Fumiaki; GOTO, Tomohide; GUO, Long; IKEGAWA, Shiro; HAGINOYA, Kazuhiro; HANIFFA, Muzhirah; HIRAISHI, Nozomi; HIRAKI, Yoko; IKEMOTO, Satoru; DAIDA, Atsuro; HAMANO, Shin-ichiro; MIURA, Masaki; ISHIYAMA, Akihiko; KAWANO, Osamu; KONDO, Akane; MATSUMOTO, Hiroshi; OKAMOTO, Nobuhiko; OKANISHI, Tohru; OYOSHI, Yukimi; TAKESHITA, Eri; SUZUKI, Toshifumi; OGAWA, Yoshiyuki; HANDA, Hiroshi; MIYAZONO, Yayoi; KOSHIMIZU, Eriko; FUJITA, Atsushi; TAKATA, Atsushi; MIYAKE, Noriko; MIZUGUCHI, Takeshi; MATSUMOTO, Naomichi (WILEY, HOBOKEN, USA, 2021)

  Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization ...
• A Core Outcome Set for Pediatric Critical Care* 

  FINK, Ericka L.; MADDUX, Aline B.; PINTO, Neethi; SORENSON, Samuel; NOTTERMAN, Daniel; DEAN, J. Michael; CARCILLO, Joseph A.; BERG, Robert A.; ZUPPA, Athena; POLLACK, Murray M.; MEERT, Kathleen L.; HALL, Mark W.; SAPRU, Anil; MCQUILLEN, Patrick S.; MOURANI, Peter M.; WESSEL, David; AMEY, Deborah; ARGENT, Andrew; CARVALHO, Werther Brunow de; BUTT, Warwick; CHOONG, Karen; CURLEY, Martha A. Q.; LOPEZ, Maria del Pilar Arias; DEMIRKOL, Demet; GROSSKREUZ, Ruth; HOUTROW, Amy J.; KNOESTER, Hennie; LEE, Jan Hau; LONG, Debbie; MANNING, Joseph C.; MORROW, Brenda; SANKAR, Jhuma; SLOMINE, Beth S.; SMITH, McKenna; OLSON, Lenora M.; WATSON, R. Scott (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)

  Objectives: More children are surviving critical illness but are at risk of residual or new health conditions. An evidence-informed and stakeholder-recommended core outcome set is lacking for pediatric critical care outcomes. ...
• Intrauterine IPEX 

  CARNEIRO-SAMPAIO, Magda; MOREIRA-FILHO, Carlos Alberto; BANDO, Silvia Yumi; DEMENGEOT, Jocelyne; COUTINHO, Antonio (FRONTIERS MEDIA SA, LAUSANNE, SWITZERLAND, 2020)

  IPEX is one of the few Inborn Errors of Immunity that may manifest in the fetal period, and its intrauterine forms certainly represent the earliest human autoimmune diseases. Here, we review the clinical, histopathologic, ...
• Caesarean sections, prenatal and postnatal conditions and childhood acute lymphoblastic leukaemia: A case-control study in the State of Sao Paulo, Brazil 

  JUNQUEIRA, Maria Elizangela Ramos; OLIVEIRA, Claudia T. de; TONE, Luiz G.; LEE, Maria Lucia de M.; ANDREA, Maria Lydia M. de; BRUNIERA, Paula; EPELMAN, Sidnei; ODONE FILHO, Vicente; BONILHA, Eliana de A.; FREITAS, Marina de; OKAMURA, Mirna N.; VICO, Eneida R.; STEVENS, Anthony P.; RABELLO NETO, Dacio de L.; WUENSCH FILHO, Victor (ELSEVIER SCI LTD, OXFORD, ENGLAND, 2020)

  Introduction: Brazil has high rates of caesarean sections, which has been suggested as a risk factor for acute lymphoblastic leukaemia (ALL). In addition, some preand postnatal conditions have been identified as relevant ...
• Point-of-care lung ultrasound imaging in pediatric COVID-19 

  GIORNO, Eliana P. C.; PAULIS, Milena De; SAMESHIMA, Yoshino T.; WEERDENBURG, Kirstin; SAVOIA, Paulo; NANBU, Danilo Y.; COUTO, Thomaz B.; SA, Fernanda V. M.; FARHAT, Sylvia C. L.; CARVALHO, Werther B.; PRETO-ZAMPERLINI, Marcela; SCHVARTSMAN, Claudio (SPRINGER, NEW YORK, UNITED STATES, 2020)

  Background: There has been limited data regarding the usefulness of lung ultrasound (US) in children with COVID-19. Objective: To describe lung US imaging findings and aeration score of 34 children with COVID-19. Methods: ...
• Comment regarding pediatric severe acute respiratory syndrome coronavirus 2: clinical presentation, infectivity, and immune responses 

  FERRANTI, Juliana Ferreira; DEGASPARE, Natalia Viu; MAU, Luciana Becker; DELGADO, Artur Figueiredo; CARVALHO, Werther Brunow de (MOSBY-ELSEVIER, NEW YORK, USA, 2021)
• Differences among Severe Cases of Sars-CoV-2, Influenza, and Other Respiratory Viral Infections in Pediatric Patients: Symptoms, Outcomes and Preexisting Comorbidities 

  SOUSA, Braian L. A.; SAMPAIO-CARNEIRO, Magda; CARVALHO, Werther B. de; SILVA, Clovis A.; FERRARO, Alexandre A. (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

  OBJECTIVES: Previous studies focusing on pediatric patients hospitalized with severe coronavirus disease 2019 (COVID-19) have been limited to small case series. We aimed to evaluate the characteristics of a large population ...
• COVID-19 and Liver Damage: Narrative Review and Proposed Clinical Protocol for Critically ill Pediatric Patients 

  LUGLIO, Michele; TANNURI, Uenis; CARVALHO, Werther Brunow de; BASTOS, Karina Lucio de Medeiros; RODRIGUEZ, Isadora Souza; JOHNSTON, Cintia; DELGADO, Artur Figueiredo (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

  SARS-CoV-2 shares nearly 80% of its' genomic sequence with SARS-CoV and MERS-CoV, both viruses known to cause respiratory symptoms and liver impairment. The emergence of pediatric cases of multisystem inflammatory syndrome ...
• Therapeutic Education Program for Children and Adolescents with chronic diseases - Letter to the Editor 

  OLIVEIRA, Liz Avlasevicius; CARNEIRO-SAMPAIO, Magda Maria Sales; MATUHARA, Angela Midori; COMINATO, Louise; JULIANI, Regina Celia Turola Passos; WAETGE, Aurora Rosaria Pagliara (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)
• Update on the diagnosis and management of COVID-19 in pediatric patients 

  CARLOTTI, Ana Paula de Carvalho Panzeri; CARVALHO, Werther Brunow de; JOHNSTON, Cintia; GILIO, Alfredo Elias; MARQUES, Heloisa Helena de Sousa; FERRANTI, Juliana Ferreira; RODRIGUEZ, Isadora Souza; DELGADO, Artur Figueiredo (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

  Coronavirus disease (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), became a pandemic in March 2020, affecting millions of people worldwide. However, COVID-19 in pediatric patients ...
• Proposed recommendations for antithrombotic pro-phylaxis for children and adolescents with severe infection and/or multisystem inflammatory syndrome caused by SARS-CoV-2 

  CARNEIRO, Jorge David Aivazoglou; RAMOS, Gabriel Frizzo; CARVALHO, Werther Brunow de; JOHNSTON, Cintia; DELGADO, Artur Figueiredo (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)
• Neonatal manifestations in COVID-19 patients at a Brazilian tertiary center COMMENT 

  BEOZZO, Glenda Priscila Neves dos Santos; CARVALHO, Werther Brunow de; KREBS, Vera Lucia Jornada; GIBELLI, Maria Augusta Bento Cicaroni; ZACHARIAS, Romy Schmidt Brock; ROSSETTO, Larissa Elizabeth Schulz; FRANCISCO, Rossana Pulcinelli Vieira (HOSPITAL CLINICAS, UNIV SAO PAULO, SAO PAULO, BRAZIL, 2020)

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