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1.
Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
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Silva, Rita Santos
; Carvalho, Berta
; Pedro, Jorge
; Castro-Correia, Cíntia
; Carvalho, Davide
; Carvalho, Filipa
; Fontoura, Manuel
.
ABSTRACT Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone CYP21A2 molecular analysis. Subjects and methods: Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete CYP21A2 molecular analysis due to suspicion of NC-CAH. We divided included participants into three groups according to the CYP21A2 molecular analysis: NC-CAH females (46), heterozygous carriers (49), and wild type (36). We then compared clinical signs and symptoms as well as biochemical and molecular data between carriers and NC-CAH individuals and between carriers and wild type females. We measured 17OHP by electrochemiluminescence immunoassay. Results: Clinical features were similar between groups. Heterozygous carriers presented higher basal and post-cosyntropin 17-hydroxyprogesterone (17OHP) than wild type individuals (p < 0.05) and lower basal and stimulated 17OHP levels than NC-CAH patients (p < 0.05). We discovered a considerable overlap between 17OHP levels among groups. The most common pathogenic variant we identified was p.Val282Leu. Conclusion: In this population of hyperandrogenic women and children, heterozygous carriers showed higher basal and stimulated 17OHP than non-carriers although normal basal and stimulated 17OHP responses do not exclude heterozygosity for CYP21A2 pathogenic variants. In this study, only the molecular analysis presented good sensitivity in identifying heterozygotes.
2.
Práticas de ressuscitação volêmica em unidades de terapia intensiva brasileiras: uma análise secundária do estudo Fluid-TRIPS
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Freitas, Flavio Geraldo Rezende de
; Hammond, Naomi
; Li, Yang
; Azevedo, Luciano Cesar Pontes de
; Cavalcanti, Alexandre Biasi
; Taniguchi, Leandro
; Gobatto, André
; Japiassú, André Miguel
; Bafi, Antonio Tonete
; Mazza, Bruno Franco
; Noritomi, Danilo Teixeira
; Dal-Pizzol, Felipe
; Bozza, Fernando
; Salluh, Jorge Ibrahin Figueira
; Westphal, Glauco Adrieno
; Soares, Márcio
; Assunção, Murillo Santucci César de
; Lisboa, Thiago
; Lobo, Suzana Margarete Ajeje
; Barbosa, Achilles Rohlfs
; Ventura, Adriana Fonseca
; Souza, Ailson Faria de
; Silva, Alexandre Francisco
; Toledo, Alexandre
; Reis, Aline
; Cembranel, Allan
; Rea Neto, Alvaro
; Gut, Ana Lúcia
; Justo, Ana Patricia Pierre
; Santos, Ana Paula
; Albuquerque, André Campos D. de
; Scazufka, André
; Rodrigues, Antonio Babo
; Fernandino, Bruno Bonaccorsi
; Silva, Bruno Goncalves
; Vidal, Bruno Sarno
; Pinheiro, Bruno Valle
; Pinto, Bruno Vilela Costa
; Feijo, Carlos Augusto Ramos
; Abreu Filho, Carlos de
; Bosso, Carlos Eduardo da Costa Nunes
; Moreira, Carlos Eduardo Nassif
; Ramos, Carlos Henrique Ferreira
; Tavares, Carmen
; Arantes, Cidamaiá
; Grion, Cintia
; Mendes, Ciro Leite
; Kmohan, Claudio
; Piras, Claudio
; Castro, Cristine Pilati Pileggi
; Lins, Cyntia
; Beraldo, Daniel
; Fontes, Daniel
; Boni, Daniela
; Castiglioni, Débora
; Paisani, Denise de Moraes
; Pedroso, Durval Ferreira Fonseca
; Mattos, Ederson Roberto
; Brito Sobrinho, Edgar de
; Troncoso, Edgar M. V.
; Rodrigues Filho, Edison Moraes
; Nogueira, Eduardo Enrico Ferrari
; Ferreira, Eduardo Leme
; Pacheco, Eduardo Souza
; Jodar, Euzebio
; Ferreira, Evandro L. A.
; Araujo, Fabiana Fernandes de
; Trevisol, Fabiana Schuelter
; Amorim, Fábio Ferreira
; Giannini, Fabio Poianas
; Santos, Fabrício Primitivo Matos
; Buarque, Fátima
; Lima, Felipe Gallego
; Costa, Fernando Antonio Alvares da
; Sad, Fernando Cesar dos Anjos
; Aranha, Fernando G.
; Ganem, Fernando
; Callil, Flavio
; Costa Filho, Francisco Flávio
; Dall´Arto, Frederico Toledo Campo
; Moreno, Geovani
; Friedman, Gilberto
; Moralez, Giulliana Martines
; Silva, Guilherme Abdalla da
; Costa, Guilherme
; Cavalcanti, Guilherme Silva
; Cavalcanti, Guilherme Silva
; Betônico, Gustavo Navarro
; Betônico, Gustavo Navarro
; Reis, Hélder
; Araujo, Helia Beatriz N.
; Hortiz Júnior, Helio Anjos
; Guimaraes, Helio Penna
; Urbano, Hugo
; Maia, Israel
; Santiago Filho, Ivan Lopes
; Farhat Júnior, Jamil
; Alvarez, Janu Rangel
; Passos, Joel Tavares
; Paranhos, Jorge Eduardo da Rocha
; Marques, José Aurelio
; Moreira Filho, José Gonçalves
; Andrade, Jose Neto
; Sobrinho, José Onofre de C
; Bezerra, Jose Terceiro de Paiva
; Alves, Juliana Apolônio
; Ferreira, Juliana
; Gomes, Jussara
; Sato, Karina Midori
; Gerent, Karine
; Teixeira, Kathia Margarida Costa
; Conde, Katia Aparecida Pessoa
; Martins, Laércia Ferreira
; Figueirêdo, Lanese
; Rezegue, Leila
; Tcherniacovsk, Leonardo
; Ferraz, Leone Oliveira
; Cavalcante, Liane
; Rabelo, Ligia
; Miilher, Lilian
; Garcia, Lisiane
; Tannous, Luana
; Hajjar, Ludhmila Abrahão
; Paciência, Luís Eduardo Miranda
; Cruz Neto, Luiz Monteiro da
; Bley, Macia Valeria
; Sousa, Marcelo Ferreira
; Puga, Marcelo Lourencini
; Romano, Marcelo Luz Pereira
; Nobrega, Marciano
; Arbex, Marcio
; Rodrigues, Márcio Leite
; Guerreiro, Márcio Osório
; Rocha, Marcone
; Alves, Maria Angela Pangoni
; Alves, Maria Angela Pangoni
; Rosa, Maria Doroti
; Dias, Mariza D’Agostino
; Martins, Miquéias
; Oliveira, Mirella de
; Moretti, Miriane Melo Silveira
; Matsui, Mirna
; Messender, Octavio
; Santarém, Orlando Luís de Andrade
; Silveira, Patricio Júnior Henrique da
; Vassallo, Paula Frizera
; Antoniazzi, Paulo
; Gottardo, Paulo César
; Correia, Paulo
; Ferreira, Paulo
; Torres, Paulo
; Silva, Pedro Gabrile M. de Barros e
; Foernges, Rafael
; Gomes, Rafael
; Moraes, Rafael
; Nonato filho, Raimundo
; Borba, Renato Luis
; Gomes, Renato V
; Cordioli, Ricardo
; Lima, Ricardo
; López, Ricardo Pérez
; Gargioni, Ricardo Rath de Oliveira
; Rosenblat, Richard
; Souza, Roberta Machado de
; Almeida, Roberto
; Narciso, Roberto Camargo
; Marco, Roberto
; waltrick, Roberto
; Biondi, Rodrigo
; Figueiredo, Rodrigo
; Dutra, Rodrigo Santana
; Batista, Roseane
; Felipe, Rouge
; Franco, Rubens Sergio da Silva
; Houly, Sandra
; Faria, Sara Socorro
; Pinto, Sergio Felix
; Luzzi, Sergio
; Sant’ana, Sergio
; Fernandes, Sergio Sonego
; Yamada, Sérgio
; Zajac, Sérgio
; Vaz, Sidiner Mesquita
; Bezerra, Silvia Aparecida Bezerra
; Farhat, Tatiana Bueno Tardivo
; Santos, Thiago Martins
; Smith, Tiago
; Silva, Ulysses V. A.
; Damasceno, Valnei Bento
; Nobre, Vandack
; Dantas, Vicente Cés de Souza
; Irineu, Vivian Menezes
; Bogado, Viviane
; Nedel, Wagner
; Campos Filho, Walther
; Dantas, Weidson
; Viana, William
; Oliveira Filho, Wilson de
; Delgadinho, Wilson Martins
; Finfer, Simon
; Machado, Flavia Ribeiro
.
RESUMO Objetivo: Descrever as práticas de ressuscitação volêmica em unidades de terapia intensiva brasileiras e compará-las com as de outros países participantes do estudo Fluid-TRIPS. Métodos: Este foi um estudo observacional transversal, prospectivo e internacional, de uma amostra de conveniência de unidades de terapia intensiva de 27 países (inclusive o Brasil), com utilização da base de dados Fluid-TRIPS compilada em 2014. Descrevemos os padrões de ressuscitação volêmica utilizados no Brasil em comparação com os de outros países e identificamos os fatores associados com a escolha dos fluidos. Resultados: No dia do estudo, foram incluídos 3.214 pacientes do Brasil e 3.493 pacientes de outros países, dos quais, respectivamente, 16,1% e 26,8% (p < 0,001) receberam fluidos. A principal indicação para ressuscitação volêmica foi comprometimento da perfusão e/ou baixo débito cardíaco (Brasil 71,7% versus outros países 56,4%; p < 0,001). No Brasil, a percentagem de pacientes que receberam soluções cristaloides foi mais elevada (97,7% versus 76,8%; p < 0,001), e solução de cloreto de sódio a 0,9% foi o cristaloide mais comumente utilizado (62,5% versus 27,1%; p < 0,001). A análise multivariada sugeriu que os níveis de albumina se associaram com o uso tanto de cristaloides quanto de coloides, enquanto o tipo de prescritor dos fluidos se associou apenas com o uso de cristaloides. Conclusão: Nossos resultados sugerem que cristaloides são usados mais frequentemente do que coloides para ressuscitação no Brasil, e essa discrepância, em termos de frequências, é mais elevada do que em outros países. A solução de cloreto de sódio 0,9% foi o cristaloide mais frequentemente prescrito. Os níveis de albumina sérica e o tipo de prescritor de fluidos foram os fatores associados com a escolha de cristaloides ou coloides para a prescrição de fluidos.
Abstract Objective: To describe fluid resuscitation practices in Brazilian intensive care units and to compare them with those of other countries participating in the Fluid-TRIPS. Methods: This was a prospective, international, cross-sectional, observational study in a convenience sample of intensive care units in 27 countries (including Brazil) using the Fluid-TRIPS database compiled in 2014. We described the patterns of fluid resuscitation use in Brazil compared with those in other countries and identified the factors associated with fluid choice. Results: On the study day, 3,214 patients in Brazil and 3,493 patients in other countries were included, of whom 16.1% and 26.8% (p < 0.001) received fluids, respectively. The main indication for fluid resuscitation was impaired perfusion and/or low cardiac output (Brazil: 71.7% versus other countries: 56.4%, p < 0.001). In Brazil, the percentage of patients receiving crystalloid solutions was higher (97.7% versus 76.8%, p < 0.001), and 0.9% sodium chloride was the most commonly used crystalloid (62.5% versus 27.1%, p < 0.001). The multivariable analysis suggested that the albumin levels were associated with the use of both crystalloids and colloids, whereas the type of fluid prescriber was associated with crystalloid use only. Conclusion: Our results suggest that crystalloids are more frequently used than colloids for fluid resuscitation in Brazil, and this discrepancy in frequencies is higher than that in other countries. Sodium chloride (0.9%) was the crystalloid most commonly prescribed. Serum albumin levels and the type of fluid prescriber were the factors associated with the choice of crystalloids or colloids for fluid resuscitation.
https://doi.org/10.5935/0103-507x.20210028
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3.
Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth
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Costa, Carla
; Coutinho, Eduarda
; Santos-Silva, Rita
; Castro-Correia, Cíntia
; Lemos, Manuel Carlos
; Fontoura, Manuel
.
SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.
https://doi.org/10.20945/2359-3997000000231
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