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Macular dystrophies associated with Stargardt-like phenotypes Stargardtlike Stargardt like
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Amaral, Rebeca A. S.
; Zin, Olivia A.
; Salles, Mariana V.
; Motta, Fabiana L.
; Sallum, Juliana Maria Ferraz
.
Arquivos Brasileiros de Oftalmologia
- Métricas do periódico
ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones. Purpose Stargardtlike like ABCA gene findings Methods examination imaging nextgeneration next generation Results RIMS1 RIMS (RIMS CRX CRB1 CRB (CRB RDH12 RDH Conclusion ones RDH1
RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos. Objetivo Stargardtlike like asso ciados ABCA4 ABCA esperado Métodos oftalmológica Resultados RIMS1 RIMS (RIMS CRX CRB1 CRB (CRB RDH12 RDH Conclusão descritos RDH1
2.
Breaking bad news in ophthalmology: a literature review ophthalmology
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Vasconcellos, Cecília Francini Cabral de
; Pellissari, Marina Cruz
; Zin, Olivia Araujo
; Salles, Mariana Valim
; Sallum, Juliana Maria Ferraz
; Vasconcellos, José Paulo Cabral de
.
Arquivos Brasileiros de Oftalmologia
- Métricas do periódico
ABSTRACT Medical specialties have recognized that breaking bad news assists clinical practice by mitigating the impact of difficult conversations. This scenario also encourages various studies on breaking bad news in ophthalmology since certain ocular diagnoses can be considered bad news. Thus, the objective is to review the scientific literature on breaking bad news in ophthalmology. The literature databases like MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE, and SCIELO, were screened for related research publications. Two independent reviewers read all the articles and short-listed the most relevant ones. Seven articles, in the formats of original article, review, editorial, oral communication, and correspondence, were reviewed. Conclusively it reveals that ophthalmologists are concerned with communicating bad news effectively but lack related studies. Nevertheless, there is a growing realization that training in breaking bad news can increase physicians’ confidence during communication, thus, benefiting the therapeutic relationship with the patient and his family. Therefore, it would be valuable to include breaking bad news training in the curriculum of residencies. conversations Thus MEDLINEPUBMED MEDLINE PUBMED MEDLINE/PUBMED EMBASE LILACS SCOPUS COCHRANE SCIELO publications shortlisted short listed ones article editorial communication correspondence reviewed Nevertheless physicians thus family Therefore residencies
RESUMO O reconhecimento sobre a comunicação de más notícias como mitigadora de conversas difíceis por outras especialidades médicas, incentiva o estudo desta temática na oftalmologia. Sendo assim, o objetivo deste estudo é revisar a produção de pesquisas científicas sobre a comunicação de más notícias em oftalmologia. Para isso, foi realizada uma revisão de literatura. As bases de dados utilizadas foram MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE e SCIELO. Dois revisores independentes leram todos os artigos e selecionaram a amostra final. Sete artigos foram escolhidos nos formatos de artigo original, revisão, editorial, comunicação oral e correspondência. Os oftalmologistas estão preocupados em comunicar as más notícias de forma eficaz, mas faltam estudos sobre o tema. No entanto, há uma crescente percepção de que o treinamento de comunicação de más notícias aumenta a confiança dos médicos na comunicação, beneficiando a relação terapêutica. Portanto, seria valioso incluir este treinamento no currículo das residências. médicas oftalmologia assim isso literatura MEDLINEPUBMED MEDLINE PUBMED MEDLINE/PUBMED EMBASE LILACS SCOPUS SCIELO final original editorial correspondência eficaz tema entanto terapêutica Portanto residências
3.
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease haystack CLN
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Lourenço, Charles Marques
; Sallum, Juliana Maria Ferraz
; Pereira, Alessandra Marques
; Girotto, Paula Natale
; Kok, Fernando
; Vilela, Daniel Reda Fenga
; Barron, Erika
; Pessoa, André
; de Oliveira, Bibiana Mello
.
Abstract Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2. Epilepsy is a common and clinically-identifiable feature among NCLs, and seizure onset is the main driver for families to seek medical care. Objective To evaluate the results of the Latin America Epilepsy and Genetics Program, an epilepsy gene panel, as a comprehensive tool for the investigation of CLN2 among other genetic causes of epilepsy. Methods A total of 1,284 patients with epilepsy without a specific cause who had at least 1 symptom associated with CLN2 were screened for variants in 160 genes associated with epilepsy or metabolic disorders presenting with epilepsy through an epilepsy gene panel. Results Variants of the TPP1 gene were identified in 25 individuals (1.9%), 21 of them with 2 variants. The 2 most frequently reported variants were p.Arg208* and p.Asp276Val, and 2 novel variants were detected in the present study: p.Leu308Pro and c.89 + 3G > C Intron 2. Conclusion The results suggest that these genetic panels can be very useful tools to confirm or exclude CLN2 diagnosis and, if confirmed, provide disease-specific treatment for the patients. (NCL recessive inherited lysosomal dementia seizures delayregression delay regression delay/regression failure death CLN2, CLN , (CLN2) TPP therapy tests clinicallyidentifiable clinically identifiable NCLs care Program panel 1284 284 1,28 16 1.9%, 19 1.9% 9 (1.9%) pArg208 pArg p Arg208 Arg p.Arg208 pAsp276Val pAspVal Asp276Val Asp Val p.Asp276Val study pLeu308Pro pLeuPro Leu308Pro Leu Pro c89 c 89 c.8 G confirmed diseasespecific disease (CLN2 128 28 1,2 1.9 (1.9% pArg20 Arg20 p.Arg20 pAsp AspVal pLeu LeuPro c8 8 c. (CLN 12 1, 1. (1.9 pArg2 Arg2 p.Arg2 (1. p.Arg (1 (
Resumo Antecedentes As lipofuscinoses ceroides neuronais (neuronal ceroid lipofuscinoses, NCLs, em inglês) são um grupo de doenças autossômicas recessivas, hereditárias, lisossomais e neurodegenerativas que causam demência progressiva, crises epiléticas, distúrbios de movimento, atraso/regressão da linguagem, deficiência visual progressiva e morte precoce. A lipofuscinose ceroide neuronal tipo 2 (neuronal ceroid lipofuscinosis type 2, CLN2, em inglês), causada por variantes patogênicas bialélicas do gene TPP1, é a única com terapia-alvo aprovada. O diagnóstico laboratorial é realizado por testes específicos, o que leva a atrasos diagnósticos e, consequentemente, prejudica a disponibilização de tratamento. A epilepsia é uma característica comum e clinicamente identificável entre as NCLs, e o início das convulsões é o principal motivo para as famílias buscarem atendimento médico. Objetivo Avaliar os resultados do Programa de Epilepsia e Genética da América Latina, um painel genético, como uma ferramenta abrangente para a investigação de CLN2 entre outras causas genéticas de epilepsia. Métodos Um total de 1.284 pacientes com epilepsia sem uma causa específica e que tinham pelo menos 1 sintoma associado à CLN2 foram rastreados em busca de variantes em 160 genes associados à epilepsia ou a distúrbios metabólicos que apresentam epilepsia, por meio de um painel genético. Resultados Variantes do gene TPP1 foram identificadas em 25 indivíduos (1,9%), sendo que ; 21 apresentavam duas variantes. As duas variantes mais frequentes foram p.Arg208* e p.Asp276Val, e duas variantes novas foram detectadas neste: p.Leu308Pro e c.89 + 3G > C Intron 2. Conclusão Os resultados sugerem que os painéis genéticos de epilepsia podem ser uma ferramenta útil para confirmar ou excluir o diagnóstico de CLN2 e, se confirmado, fornecer tratamento específico para os pacientes. NCLs inglês recessivas hereditárias epiléticas movimento atrasoregressão atraso regressão linguagem precoce CLN inglês, , TPP terapiaalvo terapia alvo aprovada específicos consequentemente médico Latina genético 1284 284 1.28 16 1,9%, 19 1,9% 9 (1,9%) pArg208 pArg p Arg208 Arg p.Arg208 pAsp276Val pAspVal Asp276Val Asp Val p.Asp276Val neste pLeu308Pro pLeuPro Leu308Pro Leu Pro c89 c 89 c.8 G confirmado 128 28 1.2 1,9 (1,9% pArg20 Arg20 p.Arg20 pAsp AspVal pLeu LeuPro c8 8 c. 12 1. 1, (1,9 pArg2 Arg2 p.Arg2 (1, p.Arg (1 (
4.
Catálogo Taxonômico da Fauna do Brasil: Setting the baseline knowledge on the animal diversity in Brazil Brasil
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Boeger, Walter A.
; Valim, Michel P.
; Zaher, Hussam
; Rafael, José A.
; Forzza, Rafaela C.
; Percequillo, Alexandre R.
; Serejo, Cristiana S.
; Garraffoni, André R.S.
; Santos, Adalberto J.
; Slipinski, Adam
; Linzmeier, Adelita M.
; Calor, Adolfo R.
; Garda, Adrian A.
; Kury, Adriano B.
; Fernandes, Agatha C.S.
; Agudo-Padrón, Aisur I.
; Akama, Alberto
; Silva Neto, Alberto M. da
; Burbano, Alejandro L.
; Menezes, Aleksandra
; Pereira-Colavite, Alessandre
; Anichtchenko, Alexander
; Lees, Alexander C.
; Bezerra, Alexandra M.R.
; Domahovski, Alexandre C.
; Pimenta, Alexandre D.
; Aleixo, Alexandre L.P.
; Marceniuk, Alexandre P.
; Paula, Alexandre S. de
; Somavilla, Alexandre
; Specht, Alexandre
; Camargo, Alexssandro
; Newton, Alfred F.
; Silva, Aline A.S. da
; Santos, Aline B. dos
; Tassi, Aline D.
; Aragão, Allan C.
; Santos, Allan P.M.
; Migotto, Alvaro E.
; Mendes, Amanda C.
; Cunha, Amanda
; Chagas Júnior, Amazonas
; Sousa, Ana A.T. de
; Pavan, Ana C.
; Almeida, Ana C.S.
; Peronti, Ana L.B.G.
; Henriques-Oliveira, Ana L.
; Prudente, Ana L.
; Tourinho, Ana L.
; Pes, Ana M.O.
; Carmignotto, Ana P.
; Wengrat, Ana P.G. da Silva
; Dornellas, Ana P.S.
; Molin, Anamaria Dal
; Puker, Anderson
; Morandini, André C.
; Ferreira, André da S.
; Martins, André L.
; Esteves, André M.
; Fernandes, André S.
; Roza, André S.
; Köhler, Andreas
; Paladini, Andressa
; Andrade, Andrey J. de
; Pinto, Ângelo P.
; Salles, Anna C. de A.
; Gondim, Anne I.
; Amaral, Antonia C.Z.
; Rondón, Antonio A.A.
; Brescovit, Antonio
; Lofego, Antônio C.
; Marques, Antonio C.
; Macedo, Antonio
; Andriolo, Artur
; Henriques, Augusto L.
; Ferreira Júnior, Augusto L.
; Lima, Aurino F. de
; Barros, Ávyla R. de A.
; Brito, Ayrton do R.
; Romera, Bárbara L.V.
; Vasconcelos, Beatriz M.C. de
; Frable, Benjamin W.
; Santos, Bernardo F.
; Ferraz, Bernardo R.
; Rosa, Brunno B.
; Sampaio, Brunno H.L.
; Bellini, Bruno C.
; Clarkson, Bruno
; Oliveira, Bruno G. de
; Corrêa, Caio C.D.
; Martins, Caleb C.
; Castro-Guedes, Camila F. de
; Souto, Camilla
; Bicho, Carla de L.
; Cunha, Carlo M.
; Barboza, Carlos A. de M.
; Lucena, Carlos A.S. de
; Barreto, Carlos
; Santana, Carlos D.C.M. de
; Agne, Carlos E.Q.
; Mielke, Carlos G.C.
; Caetano, Carlos H.S.
; Flechtmann, Carlos H.W.
; Lamas, Carlos J.E.
; Rocha, Carlos
; Mascarenhas, Carolina S.
; Margaría, Cecilia B.
; Waichert, Cecilia
; Digiani, Celina
; Haddad, Célio F.B.
; Azevedo, Celso O.
; Benetti, Cesar J.
; Santos, Charles M.D. dos
; Bartlett, Charles R.
; Bonvicino, Cibele
; Ribeiro-Costa, Cibele S.
; Santos, Cinthya S.G.
; Justino, Cíntia E.L.
; Canedo, Clarissa
; Bonecker, Claudia C.
; Santos, Cláudia P.
; Carvalho, Claudio J.B. de
; Gonçalves, Clayton C.
; Galvão, Cleber
; Costa, Cleide
; Oliveira, Cléo D.C. de
; Schwertner, Cristiano F.
; Andrade, Cristiano L.
; Pereira, Cristiano M.
; Sampaio, Cristiano
; Dias, Cristina de O.
; Lucena, Daercio A. de A.
; Manfio, Daiara
; Amorim, Dalton de S.
; Queiroz, Dalva L. de
; Queiroz, Dalva L. de
; Colpani, Daniara
; Abbate, Daniel
; Aquino, Daniel A.
; Burckhardt, Daniel
; Cavallari, Daniel C.
; Prado, Daniel de C. Schelesky
; Praciano, Daniel L.
; Basílio, Daniel S.
; Bená, Daniela de C.
; Toledo, Daniela G.P. de
; Takiya, Daniela M.
; Fernandes, Daniell R.R.
; Ament, Danilo C.
; Cordeiro, Danilo P.
; Silva, Darliane E.
; Pollock, Darren A.
; Muniz, David B.
; Gibson, David I.
; Nogueira, David S.
; Marques, Dayse W.A.
; Lucatelli, Débora
; Garcia, Deivys M.A.
; Baêta, Délio
; Ferreira, Denise N.M.
; Rueda-Ramírez, Diana
; Fachin, Diego A.
; Souza, Diego de S.
; Rodrigues, Diego F.
; Pádua, Diego G. de
; Barbosa, Diego N.
; Dolibaina, Diego R.
; Amaral, Diogo C.
; Chandler, Donald S.
; Maccagnan, Douglas H.B.
; Caron, Edilson
; Carvalho, Edrielly
; Adriano, Edson A.
; Abreu Júnior, Edson F. de
; Pereira, Edson H.L.
; Viegas, Eduarda F.G.
; Carneiro, Eduardo
; Colley, Eduardo
; Eizirik, Eduardo
; Santos, Eduardo F. dos
; Shimbori, Eduardo M.
; Suárez-Morales, Eduardo
; Arruda, Eliane P. de
; Chiquito, Elisandra A.
; Lima, Élison F.B.
; Castro, Elizeu B. de
; Orlandin, Elton
; Nascimento, Elynton A. do
; Razzolini, Emanuel
; Gama, Emanuel R.R.
; Araujo, Enilma M. de
; Nishiyama, Eric Y.
; Spiessberger, Erich L.
; Santos, Érika C.L. dos
; Contreras, Eugenia F.
; Galati, Eunice A.B.
; Oliveira Junior, Evaldo C. de
; Gallardo, Fabiana
; Hernandes, Fabio A.
; Lansac-Tôha, Fábio A.
; Pitombo, Fabio B.
; Dario, Fabio Di
; Santos, Fábio L. dos
; Mauro, Fabio
; Nascimento, Fabio O. do
; Olmos, Fabio
; Amaral, Fabio R.
; Schunck, Fabio
; Godoi, Fábio S. P. de
; Machado, Fabrizio M.
; Barbo, Fausto E.
; Agrain, Federico A.
; Ribeiro, Felipe B.
; Moreira, Felipe F.F.
; Barbosa, Felipe F.
; Silva, Fenanda S.
; Cavalcanti, Fernanda F.
; Straube, Fernando C.
; Carbayo, Fernando
; Carvalho Filho, Fernando
; Zanella, Fernando C.V.
; Jacinavicius, Fernando de C.
; Farache, Fernando H.A.
; Leivas, Fernando
; Dias, Fernando M.S.
; Mantellato, Fernando
; Vaz-de-Mello, Fernando Z.
; Gudin, Filipe M.
; Albuquerque, Flávio
; Molina, Flavio B.
; Passos, Flávio D.
; Shockley, Floyd W.
; Pinheiro, Francielly F.
; Mello, Francisco de A.G. de
; Nascimento, Francisco E. de L.
; Franco, Francisco L.
; Oliveira, Francisco L. de
; Melo, Francisco T. de V.
; Quijano, Freddy R.B.
; Salles, Frederico F.
; Biffi, Gabriel
; Queiroz, Gabriel C.
; Bizarro, Gabriel L.
; Hrycyna, Gabriela
; Leviski, Gabriela
; Powell, Gareth S.
; Santos, Geane B. dos
; Morse, Geoffrey E.
; Brown, George
; Mattox, George M.T.
; Zimbrão, Geraldo
; Carvalho, Gervásio S.
; Miranda, Gil F.G.
; Moraes, Gilberto J. de
; Lourido, Gilcélia M.
; Neves, Gilmar P.
; Moreira, Gilson R.P.
; Montingelli, Giovanna G.
; Maurício, Giovanni N.
; Marconato, Gláucia
; Lopez, Guilherme E.L.
; Silva, Guilherme L. da
; Muricy, Guilherme
; Brito, Guilherme R.R.
; Garbino, Guilherme S.T.
; Flores, Gustavo E.
; Graciolli, Gustavo
; Libardi, Gustavo S.
; Proctor, Heather C.
; Gil-Santana, Helcio R.
; Varella, Henrique R.
; Escalona, Hermes E.
; Schmitz, Hermes J.
; Rodrigues, Higor D.D.
; Galvão Filho, Hilton de C.
; Quintino, Hingrid Y.S.
; Pinto, Hudson A.
; Rainho, Hugo L.
; Miyahira, Igor C.
; Gonçalves, Igor de S.
; Martins, Inês X.
; Cardoso, Irene A.
; Oliveira, Ismael B. de
; Franz, Ismael
; Fernandes, Itanna O.
; Golfetti, Ivan F.
; S. Campos-Filho, Ivanklin
; Oliveira, Ivo de S.
; Delabie, Jacques H.C.
; Oliveira, Jader de
; Prando, Jadila S.
; Patton, James L.
; Bitencourt, Jamille de A.
; Silva, Janaina M.
; Santos, Jandir C.
; Arruda, Janine O.
; Valderrama, Jefferson S.
; Dalapicolla, Jeronymo
; Oliveira, Jéssica P.
; Hájek, Jiri
; Morselli, João P.
; Narita, João P.
; Martin, João P.I.
; Grazia, Jocélia
; McHugh, Joe
; Cherem, Jorge J.
; Farias Júnior, José A.S.
; Fernandes, Jose A.M.
; Pacheco, José F.
; Birindelli, José L.O.
; Rezende, José M.
; Avendaño, Jose M.
; Duarte, José M. Barbanti
; Ribeiro, José R. Inácio
; Mermudes, José R.M.
; Pujol-Luz, José R.
; Santos, Josenilson R. dos
; Câmara, Josenir T.
; Teixeira, Joyce A.
; Prado, Joyce R. do
; Botero, Juan P.
; Almeida, Julia C.
; Kohler, Julia
; Gonçalves, Julia P.
; Beneti, Julia S.
; Donahue, Julian P.
; Alvim, Juliana
; Almeida, Juliana C.
; Segadilha, Juliana L.
; Wingert, Juliana M.
; Barbosa, Julianna F.
; Ferrer, Juliano
; Santos, Juliano F. dos
; Kuabara, Kamila M.D.
; Nascimento, Karine B.
; Schoeninger, Karine
; Campião, Karla M.
; Soares, Karla
; Zilch, Kássia
; Barão, Kim R.
; Teixeira, Larissa
; Sousa, Laura D. do N.M. de
; Dumas, Leandro L.
; Vieira, Leandro M.
; Azevedo, Leonardo H.G.
; Carvalho, Leonardo S.
; Souza, Leonardo S. de
; Rocha, Leonardo S.G.
; Bernardi, Leopoldo F.O.
; Vieira, Letícia M.
; Johann, Liana
; Salvatierra, Lidianne
; Oliveira, Livia de M.
; Loureiro, Lourdes M.A. El-moor
; Barreto, Luana B.
; Barros, Luana M.
; Lecci, Lucas
; Camargos, Lucas M. de
; Lima, Lucas R.C.
; Almeida, Lucia M.
; Martins, Luciana R.
; Marinoni, Luciane
; Moura, Luciano de A.
; Lima, Luciano
; Naka, Luciano N.
; Miranda, Lucília S.
; Salik, Lucy M.
; Bezerra, Luis E.A.
; Silveira, Luis F.
; Campos, Luiz A.
; Castro, Luiz A.S. de
; Pinho, Luiz C.
; Silveira, Luiz F.L.
; Iniesta, Luiz F.M.
; Tencatt, Luiz F.C.
; Simone, Luiz R.L.
; Malabarba, Luiz R.
; Cruz, Luiza S. da
; Sekerka, Lukas
; Barros, Lurdiana D.
; Santos, Luziany Q.
; Skoracki, Maciej
; Correia, Maira A.
; Uchoa, Manoel A.
; Andrade, Manuella F.G.
; Hermes, Marcel G.
; Miranda, Marcel S.
; Araújo, Marcel S. de
; Monné, Marcela L.
; Labruna, Marcelo B.
; Santis, Marcelo D. de
; Duarte, Marcelo
; Knoff, Marcelo
; Nogueira, Marcelo
; Britto, Marcelo R. de
; Melo, Marcelo R.S. de
; Carvalho, Marcelo R. de
; Tavares, Marcelo T.
; Kitahara, Marcelo V.
; Justo, Marcia C.N.
; Botelho, Marcia J.C.
; Couri, Márcia S.
; Borges-Martins, Márcio
; Felix, Márcio
; Oliveira, Marcio L. de
; Bologna, Marco A.
; Gottschalk, Marco S.
; Tavares, Marcos D.S.
; Lhano, Marcos G.
; Bevilaqua, Marcus
; Santos, Marcus T.T.
; Domingues, Marcus V.
; Sallum, Maria A.M.
; Digiani, María C.
; Santarém, Maria C.A.
; Nascimento, Maria C. do
; Becerril, María de los A.M.
; Santos, Maria E.A. dos
; Passos, Maria I. da S. dos
; Felippe-Bauer, Maria L.
; Cherman, Mariana A.
; Terossi, Mariana
; Bartz, Marie L.C.
; Barbosa, Marina F. de C.
; Loeb, Marina V.
; Cohn-Haft, Mario
; Cupello, Mario
; Martins, Marlúcia B.
; Christofersen, Martin L.
; Bento, Matheus
; Rocha, Matheus dos S.
; Martins, Maurício L.
; Segura, Melissa O.
; Cardenas, Melissa Q.
; Duarte, Mércia E.
; Ivie, Michael A.
; Mincarone, Michael M.
; Borges, Michela
; Monné, Miguel A.
; Casagrande, Mirna M.
; Fernandez, Monica A.
; Piovesan, Mônica
; Menezes, Naércio A.
; Benaim, Natalia P.
; Reategui, Natália S.
; Pedro, Natan C.
; Pecly, Nathalia H.
; Ferreira Júnior, Nelson
; Silva Júnior, Nelson J. da
; Perioto, Nelson W.
; Hamada, Neusa
; Degallier, Nicolas
; Chao, Ning L.
; Ferla, Noeli J.
; Mielke, Olaf H.H.
; Evangelista, Olivia
; Shibatta, Oscar A.
; Oliveira, Otto M.P.
; Albornoz, Pablo C.L.
; Dellapé, Pablo M.
; Gonçalves, Pablo R.
; Shimabukuro, Paloma H.F.
; Grossi, Paschoal
; Rodrigues, Patrícia E. da S.
; Lima, Patricia O.V.
; Velazco, Paul
; Santos, Paula B. dos
; Araújo, Paula B.
; Silva, Paula K.R.
; Riccardi, Paula R.
; Garcia, Paulo C. de A.
; Passos, Paulo G.H.
; Corgosinho, Paulo H.C.
; Lucinda, Paulo
; Costa, Paulo M.S.
; Alves, Paulo P.
; Roth, Paulo R. de O.
; Coelho, Paulo R.S.
; Duarte, Paulo R.M.
; Carvalho, Pedro F. de
; Gnaspini, Pedro
; Souza-Dias, Pedro G.B.
; Linardi, Pedro M.
; Bartholomay, Pedro R.
; Demite, Peterson R.
; Bulirsch, Petr
; Boll, Piter K.
; Pereira, Rachel M.M.
; Silva, Rafael A.P.F.
; Moura, Rafael B. de
; Boldrini, Rafael
; Silva, Rafaela A. da
; Falaschi, Rafaela L.
; Cordeiro, Ralf T.S.
; Mello, Ramon J.C.L.
; Singer, Randal A.
; Querino, Ranyse B.
; Heleodoro, Raphael A.
; Castilho, Raphael de C.
; Constantino, Reginaldo
; Guedes, Reinaldo C.
; Carrenho, Renan
; Gomes, Renata S.
; Gregorin, Renato
; Machado, Renato J.P.
; Bérnils, Renato S.
; Capellari, Renato S.
; Silva, Ricardo B.
; Kawada, Ricardo
; Dias, Ricardo M.
; Siewert, Ricardo
; Brugnera, Ricaro
; Leschen, Richard A.B.
; Constantin, Robert
; Robbins, Robert
; Pinto, Roberta R.
; Reis, Roberto E. dos
; Ramos, Robson T. da C.
; Cavichioli, Rodney R.
; Barros, Rodolfo C. de
; Caires, Rodrigo A.
; Salvador, Rodrigo B.
; Marques, Rodrigo C.
; Araújo, Rodrigo C.
; Araujo, Rodrigo de O.
; Dios, Rodrigo de V.P.
; Johnsson, Rodrigo
; Feitosa, Rodrigo M.
; Hutchings, Roger W.
; Lara, Rogéria I.R.
; Rossi, Rogério V.
; Gerstmeier, Roland
; Ochoa, Ronald
; Hutchings, Rosa S.G.
; Ale-Rocha, Rosaly
; Rocha, Rosana M. da
; Tidon, Rosana
; Brito, Rosangela
; Pellens, Roseli
; Santos, Sabrina R. dos
; Santos, Sandra D. dos
; Paiva, Sandra V.
; Santos, Sandro
; Oliveira, Sarah S. de
; Costa, Sávio C.
; Gardner, Scott L.
; Leal, Sebastián A. Muñoz
; Aloquio, Sergio
; Bonecker, Sergio L.C.
; Bueno, Sergio L. de S.
; Almeida, Sérgio M. de
; Stampar, Sérgio N.
; Andena, Sérgio R.
; Posso, Sergio R.
; Lima, Sheila P.
; Gadelha, Sian de S.
; Thiengo, Silvana C.
; Cohen, Simone C.
; Brandão, Simone N.
; Rosa, Simone P.
; Ribeiro, Síria L.B.
; Letana, Sócrates D.
; Santos, Sonia B. dos
; Andrade, Sonia C.S.
; Dávila, Stephane
; Vaz, Stéphanie
; Peck, Stewart B.
; Christo, Susete W.
; Cunha, Suzan B.Z.
; Gomes, Suzete R.
; Duarte, Tácio
; Madeira-Ott, Taís
; Marques, Taísa
; Roell, Talita
; Lima, Tarcilla C. de
; Sepulveda, Tatiana A.
; Maria, Tatiana F.
; Ruschel, Tatiana P.
; Rodrigues, Thaiana
; Marinho, Thais A.
; Almeida, Thaís M. de
; Miranda, Thaís P.
; Freitas, Thales R.O.
; Pereira, Thalles P.L.
; Zacca, Thamara
; Pacheco, Thaynara L.
; Martins, Thiago F.
; Alvarenga, Thiago M.
; Carvalho, Thiago R. de
; Polizei, Thiago T.S.
; McElrath, Thomas C.
; Henry, Thomas
; Pikart, Tiago G.
; Porto, Tiago J.
; Krolow, Tiago K.
; Carvalho, Tiago P.
; Lotufo, Tito M. da C.
; Caramaschi, Ulisses
; Pinheiro, Ulisses dos S.
; Pardiñas, Ulyses F.J.
; Maia, Valéria C.
; Tavares, Valeria
; Costa, Valmir A.
; Amaral, Vanessa S. do
; Silva, Vera C.
; Wolff, Vera R. dos S.
; Slobodian, Verônica
; Silva, Vinícius B. da
; Espíndola, Vinicius C.
; Costa-Silva, Vinicius da
; Bertaco, Vinicius de A.
; Padula, Vinícius
; Ferreira, Vinicius S.
; Silva, Vitor C.P. da
; Piacentini, Vítor de Q.
; Sandoval-Gómez, Vivian E.
; Trevine, Vivian
; Sousa, Viviane R.
; Sant’Anna, Vivianne B. de
; Mathis, Wayne N.
; Souza, Wesley de O.
; Colombo, Wesley D.
; Tomaszewska, Wioletta
; Wosiacki, Wolmar B.
; Ovando, Ximena M.C.
; Leite, Yuri L.R.
.
ABSTRACT The limited temporal completeness and taxonomic accuracy of species lists, made available in a traditional manner in scientific publications, has always represented a problem. These lists are invariably limited to a few taxonomic groups and do not represent up-to-date knowledge of all species and classifications. In this context, the Brazilian megadiverse fauna is no exception, and the Catálogo Taxonômico da Fauna do Brasil (CTFB) (http://fauna.jbrj.gov.br/), made public in 2015, represents a database on biodiversity anchored on a list of valid and expertly recognized scientific names of animals in Brazil. The CTFB is updated in near real time by a team of more than 800 specialists. By January 1, 2024, the CTFB compiled 133,691 nominal species, with 125,138 that were considered valid. Most of the valid species were arthropods (82.3%, with more than 102,000 species) and chordates (7.69%, with over 11,000 species). These taxa were followed by a cluster composed of Mollusca (3,567 species), Platyhelminthes (2,292 species), Annelida (1,833 species), and Nematoda (1,447 species). All remaining groups had less than 1,000 species reported in Brazil, with Cnidaria (831 species), Porifera (628 species), Rotifera (606 species), and Bryozoa (520 species) representing those with more than 500 species. Analysis of the CTFB database can facilitate and direct efforts towards the discovery of new species in Brazil, but it is also fundamental in providing the best available list of valid nominal species to users, including those in science, health, conservation efforts, and any initiative involving animals. The importance of the CTFB is evidenced by the elevated number of citations in the scientific literature in diverse areas of biology, law, anthropology, education, forensic science, and veterinary science, among others. publications problem uptodate up date classifications context exception (CTFB http//fauna.jbrj.gov.br/, httpfaunajbrjgovbr http //fauna.jbrj.gov.br/ , jbrj gov br (http://fauna.jbrj.gov.br/) 2015 Brazil 80 specialists 1 2024 133691 133 691 133,69 125138 125 138 125,13 82.3%, 823 82 3 (82.3% 102000 102 000 102,00 7.69%, 769 7 69 (7.69% 11000 11 11,00 . 3,567 3567 567 (3,56 2,292 2292 2 292 (2,29 1,833 1833 833 (1,83 1,447 1447 447 (1,44 1000 1,00 831 (83 628 (62 606 (60 520 (52 50 users science health biology law anthropology education others http//fauna.jbrj.gov.br/ faunajbrjgovbr //fauna.jbrj.gov.br (http://fauna.jbrj.gov.br/ 201 8 202 13369 13 133,6 12513 12 125,1 82.3% (82.3 10200 10 00 102,0 7.69% 76 6 (7.69 1100 11,0 3,56 356 56 (3,5 2,29 229 29 (2,2 1,83 183 83 (1,8 1,44 144 44 (1,4 100 1,0 (8 62 (6 60 52 (5 5 http//fauna.jbrj.gov.br (http://fauna.jbrj.gov.br 20 1336 133, 1251 125, 82.3 (82. 1020 0 102, 7.69 (7.6 110 11, 3,5 35 (3, 2,2 22 (2, 1,8 18 (1, 1,4 14 4 ( 82. (82 7.6 (7. 3, (3 2, (2 (1 7. (7
5.
Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations angleclosure angle closure CRB
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Abe, Ricardo Yuji
; Makarczyk, Luciana de Sá Quirino
; Ávila, Marcos Pereira de
; Sallum, Juliana Maria Ferraz
.
ABSTRACT We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families’ information on the patient’s prognosis and possible therapeutic options. 15yearold yearold 15 year old eye sulcus configuration Spectraldomain Spectral domain edema CRB1 CRB (CRB1 c.2843G>A c2843GA cGA c 2843G A G c.2506C>A. c2506CA cCA c.2506C>A . 2506C C c.2506C>A) age addition available families s options (CRB GA CA
RESUMO Nós descrevemos um caso de uma paciente de 15 anos com queda de acuidade visual e aumento da pressão intraocular em ambos os olhos, juntamente com fechamento angular no exame de gonioscopia. Na fundoscopia a paciente apresentava atenuação dos vasos retinianos, palidez de disco e aumento de escavação em olho esquerdo. Ao exame da biomicroscopia ultrassônica, foi evidenciado corpo ciliar anteriorizado e ausência de sulco ciliar em ambos os olhos, relevando presença de íris em plateau. Ao exame de tomografia de coerência óptica, visualizamos presença de edema macular cistoide bilateral. O screening genético revelou heterozigose no gene CRB1 (c.2843G>A and c.2506C>A), confirmando o diagnóstico de retinose pigmentar. Este caso reforça a importância do exame de gonioscopia e da avaliação da pressão intraocular em pacientes em câmara rasa, mesmo em pacientes jovens. Além disso, mostra a importância do screening genético como ferramenta útil para elucidação diagnóstica. 1 olhos retinianos esquerdo ultrassônica plateau óptica bilateral CRB c.2843G>A c2843GA cGA c 2843G A G c.2506C>A, c2506CA cCA c.2506C>A , 2506C C c.2506C>A) pigmentar rasa jovens disso diagnóstica GA CA
6.
Macular dystrophies associated with Stargardt-like phenotypes
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Amaral, Rebeca A. S.
; Zin, Olivia A.
; Salles, Mariana V.
; Motta, Fabiana L.
; Sallum, Juliana Maria Ferraz
.
RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos.
ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.
7.
Emotional, hyperactivity and inattention problems in adolescents with immunocompromising chronic diseases during the COVID-19 pandemic Emotional COVID19 COVID 19 COVID-1 COVID1 1 COVID-
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Campos, Reinan T.
; Lindoso, Livia
; Sousa, Renan A. de
; Helito, Alberto C.
; Ihara, Bianca P.
; Strabelli, Claudia A.A.
; Paradelas, Levi M.V.
; Carneiro, Beatriz O.L.
; Cardoso, Maria Paula R.
; Souza, Jean Paulo V. de
; Freire, Marianna R. de M.
; Astley, Camilla
; Laurentino, Moisés F.
; Buscatti, Izabel M.
; Kozu, Katia
; Aikawa, Nadia E.
; Sallum, Adriana M.E.
; Ferreira, Juliana CO.
; Simon, Juliana R.
; Viana, Vivianne S.L.
; Queiroz, Ligia B.
; Gualano, Bruno
; Roschel, Hamilton
; Pereira, Rosa Maria R.
; Toma, Ricardo K.
; Watanabe, Andréia
; Grangeiro, Patricia M.
; Casella, Caio B.
; Farhat, Sylvia C.
; Polanczyk, Guilherme V.
; Campos, Lucia Maria A.
; Silva, Clovis A.
.
Abstract Objective: To assess factors associated with emotional changes and Hyperactivity/Inattention (HI) motivated by COVID-19 quarantine in adolescents with immunocompromising diseases. Methods: A cross-sectional study included 343 adolescents with immunocompromising diseases and 108 healthy adolescents. Online questionnaires were answered including socio-demographic data and self-rated healthcare routine during COVID-19 quarantine and validated surveys: Strengths and Difficulties Questionnaire (SDQ), Pittsburgh Sleep Quality Index (PSQI), Pediatric Quality of Life Inventory 4.0 (PedsQL4.0). Results: The frequencies of abnormal emotional SDQ scores from adolescents with chronic diseases were similar to those of healthy subjects (110/343 [32%] vs. 38/108 [35%], p = 0.548), as well as abnormal hyperactivity/inattention SDQ scores (79/343 [23%] vs. 29/108 [27%], p = 0.417). Logistic regression analysis of independent variables associated with abnormal emotional scores from adolescents with chronic diseases showed: female sex (Odds Ratio [OR = 3.76]; 95% Confidence Interval (95% CI) 2.00–7.05; p < 0.001), poor sleep quality (OR = 2.05; 95% CI 1.08–3.88; p = 0.028) and intrafamilial violence during pandemic (OR = 2.17; 95% CI 1.12–4.19; p = 0.021) as independently associated with abnormal emotional scores, whereas total PedsQL score was inversely associated with abnormal emotional scores (OR = 0.95; 95% CI 0.93–0.96; p < 0.0001). Logistic regression analysis associated with abnormal HI scores from patients evidenced that total PedsQL score (OR = 0.97; 95% CI 0.95–0.99; p = 0.010], changes in medical appointments during the pandemic (OR = 0.39; 95% CI 0.19–0.79; p = 0.021), and reliable COVID-19 information (OR = 0.35; 95% CI 0.16–0.77; p = 0.026) remained inversely associated with abnormal HI scores. Conclusion: The present study showed emotional and HI disturbances in adolescents with chronic immunosuppressive diseases during the COVID-19 pandemic. It reinforces the need to promptly implement a longitudinal program to protect the mental health of adolescents with and without chronic illnesses during future pandemics. Objective HyperactivityInattention Hyperactivity Inattention (HI COVID19 COVID 19 COVID-1 Methods crosssectional cross sectional 34 10 sociodemographic socio demographic selfrated self rated surveys SDQ, , (SDQ) PSQI, PSQI (PSQI) 40 4 0 4. PedsQL4.0. PedsQL40 PedsQL4.0 . PedsQL4 (PedsQL4.0) Results 110/343 110343 110 (110/34 32% 32 [32% vs 38108 38 38/10 35%, 35 35% [35%] 0.548, 0548 0.548 548 0.548) hyperactivityinattention hyperactivity inattention 79/343 79343 79 (79/34 23% 23 [23% 29108 29 29/10 27%, 27 27% [27%] 0.417. 0417 0.417 417 0.417) Odds OR 3.76 376 3 76 3.76] 95 (95 2.00–7.05 200705 2 00 7 05 0.001, 0001 0.001 001 0.001) 2.05 205 1.08–3.88 108388 1 08 88 0.028 0028 028 2.17 217 17 1.12–4.19 112419 12 0.021 0021 021 0.95 095 0.93–0.96 093096 93 96 0.0001. 00001 0.0001 0.0001) 0.97 097 97 0.95–0.99 095099 99 0.010, 0010 0.010 010 0.010] 0.39 039 39 0.19–0.79 019079 0.021, 0.35 035 0.16–0.77 016077 16 77 0.026 0026 026 Conclusion pandemics COVID1 COVID- (SDQ (PSQI PedsQL4. (PedsQL4.0 110/34 11034 11 (110/3 [32 3810 38/1 [35% 054 0.54 54 79/34 7934 (79/3 [23 2910 29/1 [27% 041 0.41 41 3.7 37 9 (9 2.00–7.0 20070 000 0.00 2.0 20 1.08–3.8 10838 8 0.02 002 02 2.1 21 1.12–4.1 11241 0.9 09 0.93–0.9 09309 0000 0.000 0.95–0.9 09509 0.01 01 0.3 03 0.19–0.7 01907 0.16–0.7 01607 (PedsQL4. 110/3 1103 (110/ [3 381 38/ [35 0.5 5 79/3 793 (79/ [2 291 29/ [27 04 0.4 3. ( 2.00–7. 2007 0.0 2. 1.08–3. 1083 1.12–4. 1124 0. 0.93–0. 0930 0.95–0. 0950 0.19–0. 0190 0.16–0. 0160 (PedsQL4 110/ (110 [ 79/ (79 2.00–7 200 1.08–3 1.12–4 112 0.93–0 093 0.95–0 0.19–0 019 0.16–0 016 (PedsQL (11 (7 2.00– 1.08– 1.12– 0.93– 0.95– 0.19– 0.16– (1 2.00 1.08 1.12 0.93 0.19 0.16 1.0 1.1 0.1 1.
8.
Ceramidas Plasmáticas na Estratificação de Risco das Doenças Cardiovasculares
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Junqueira, Débora L. M.
; Stach, Alline
; Caixeta, Adriano
; Sallum, Juliana
; Yasaki, Erika
; Tsutsui, Jeane
; Rizatti, Edgar
; Rochitte, Carlos E.
; Ching-Jianhong,
; Kovalik, Jean-Paul
; Krieger, José E.
; Richards, A. Mark
; Chan, Mark Y.
; Carvalho, Leonardo P. de
.
Arquivos Brasileiros de Cardiologia
- Métricas do periódico
Resumo A produção de ceramida ocorre em todo o corpo e desempenha um papel importante na manutenção da fisiologia normal. No entanto, os níveis de ceramidas são alterados em estados de doença, principalmente durante o desenvolvimento de diabetes e dislipidemia. A produção de ceramidas também está associada à instabilidade das placas ateroscleróticas. Estudos recentes revelam que pacientes com doença arterial coronariana instável apresentam níveis plasmáticos aumentados de ceramidas (principalmente C16, C18 e C24:1). Atualmente, são consideradas biomarcadores emergentes nas doenças cardiovasculares, sendo utilizadas na predição de instabilidade da placa aterosclerótica e eventos cardiovasculares adversos de forma independente aos fatores de risco tradicionais. Com o objetivo de descrever e discutir o papel das ceramidas na estratificação das doenças cardiovasculares, o desenvolvimento desta revisão narrativa contextualiza a importância desse biomarcador no cenário atual da cardiologia.
Abstract Ceramide production takes place throughout the body and plays a key role in the maintenance of normal physiology. However, ceramide levels are altered during disease states, particularly considering the development of diabetes and dyslipidemia. Ceramide production is also associated with atherosclerotic plaque instability. Recent studies revealed that patients with unstable coronary artery disease (CAD) presented increased plasma ceramide levels (especially C16, C18, and C24:1). These molecules are currently considered emerging biomarkers of cardiovascular diseases (CVD), being used for predicting atherosclerotic plaque instability and adverse cardiovascular events independently from traditional risk factors. With the aim of describing and discussing the role of ceramides in the stratification of cardiovascular diseases, this narrative review contextualizes the importance of this biomarker in the present cardiology scenario.
9.
Breaking bad news in ophthalmology: a literature review
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Vasconcellos, Cecília Francini Cabral de
; Pellissari, Marina Cruz
; Zin, Olivia Araujo
; Salles, Mariana Valim
; Sallum, Juliana Maria Ferraz
; Vasconcellos, José Paulo Cabral de
.
RESUMO O reconhecimento sobre a comunicação de más notícias como mitigadora de conversas difíceis por outras especialidades médicas, incentiva o estudo desta temática na oftalmologia. Sendo assim, o objetivo deste estudo é revisar a produção de pesquisas científicas sobre a comunicação de más notícias em oftalmologia. Para isso, foi realizada uma revisão de literatura. As bases de dados utilizadas foram MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE e SCIELO. Dois revisores independentes leram todos os artigos e selecionaram a amostra final. Sete artigos foram escolhidos nos formatos de artigo original, revisão, editorial, comunicação oral e correspondência. Os oftalmologistas estão preocupados em comunicar as más notícias de forma eficaz, mas faltam estudos sobre o tema. No entanto, há uma crescente percepção de que o treinamento de comunicação de más notícias aumenta a confiança dos médicos na comunicação, beneficiando a relação terapêutica. Portanto, seria valioso incluir este treinamento no currículo das residências.
ABSTRACT Medical specialties have recognized that breaking bad news assists clinical practice by mitigating the impact of difficult conversations. This scenario also encourages various studies on breaking bad news in ophthalmology since certain ocular diagnoses can be considered bad news. Thus, the objective is to review the scientific literature on breaking bad news in ophthalmology. The literature databases like MEDLINE/PUBMED, EMBASE, LILACS, SCOPUS, COCHRANE, and SCIELO, were screened for related research publications. Two independent reviewers read all the articles and short-listed the most relevant ones. Seven articles, in the formats of original article, review, editorial, oral communication, and correspondence, were reviewed. Conclusively it reveals that ophthalmologists are concerned with communicating bad news effectively but lack related studies. Nevertheless, there is a growing realization that training in breaking bad news can increase physicians’ confidence during communication, thus, benefiting the therapeutic relationship with the patient and his family. Therefore, it would be valuable to include breaking bad news training in the curriculum of residencies.
10.
Rare disease day and Ophthalmology
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Palma, Mariana Matioli da
; Vasconcellos, Cecilia Francini Cabral de
; Sallum, Juliana Maria Ferraz
.
Arquivos Brasileiros de Oftalmologia
- Métricas do periódico
https://doi.org/10.5935/0004-2749.202100106
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11.
Poor Sleep quality and health-related quality of life impact in adolescents with and without chronic immunosuppressive conditions during COVID-19 quarantine
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Helito, Alberto C.
; Lindoso, Livia
; Sieczkowska, Sofia M.
; Astley, Camilla
; Queiroz, Ligia B.
; Rose, Natalia
; Santos, Claudia Renata P.
; Bolzan, Thalis
; Peralta, Rita María I.A.
; Franco, Ruth R.
; Cominato, Louise
; Pereira, Rosa Maria R.
; Tannuri, Uenis
; Campos, Lucia Maria A.
; Lourenço, Benito
; Toma, Ricardo K.
; Medeiros, Karina
; Watanabe, Andréia
; Grangeiro, Patricia Moreno
; Farhat, Sylvia C.
; Casella, Caio B.
; Polanczyk, Guilherme V.
; Gualano, Bruno
; Silva, Clovis A.
; Sallum, Adriana M. E.
; Iraha, Amanda Y.
; Ihara, Bianca P.
; Mazzolani, Bruna C.
; Martinez, Claudia A.
; Strabelli, Claudia A. A.
; Fonseca, Claudia B.
; Lima, Dandara C. C.
; Setoue, Debora N. D.
; Roz, Deborah F. P.
; Smaira, Fabiana I.
; Roschel, Hamilton
; Miyatani, Helena T.
; Marques, Isabela G.
; Oba, Jane
; Ferreira, Juliana C. O.
; Simon, Juliana R.
; Kozu, Katia
; Saccani, Ligia P.
; Martiniano, Lorena V. M.
; Miranda, Luana C. A.
; Silva, Luiz E. V.
; Laurentino, Moisés F.
; Aikawa, Nadia E.
; Sakita, Neusa K.
; Tanigava, Nicolas Y.
; Pereira, Paulo R. A.
; Palmeira, Patrícia
; Angelo, Simone S.
; Lavorato, Sofia S. M.
; Bernardes, Tamires M.
; Franco, Tathiane C.
; Viana, Vivianne S. L.
; Barros, Vera P. M. F. R.
; Zheng, Yingying
.
OBJECTIVE: To assess the possible factors that influence sleep quality in adolescents with and without chronic immunosuppressive conditions quarantined during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This cross-sectional study included 305 adolescents with chronic immunocompromised conditions and 82 healthy adolescents. Online surveys were completed, which included questions on socio-demographic data and self-rated healthcare routine during COVID-19 quarantine and the following validated questionnaires: the Pittsburgh Sleep Quality Index (PSQI), Pediatric Quality of Life Inventory 4.0 (PedsQL4.0), and Pediatric Outcome Data Collection Instrument (PODCI). RESULTS: The median current age [14 (10-18) vs. 15 (10-18) years, p=0.847] and frequency of female sex (62% vs. 58%, p=0.571) were similar in adolescents with chronic conditions compared with healthy adolescents. The frequency of poor sleep quality was similar in both groups (38% vs. 48%, p=0.118). Logistic regression analysis, including both healthy adolescents and adolescents with chronic conditions (n=387), demonstrated that self-reported increase in screen time (odds ratio [OR] 3.0; 95% confidence interval [CI] 1.3-6.8; p=0.008) and intrafamilial violence report (OR 2.1; 95% CI 1.2-3.5; p=0.008) were independently associated with poor sleep quality in these adolescents. However, the PODCI global function score was associated with a lower OR for poor sleep quality (OR 0.97; 95% CI 0.94-0.99; p=0.001). Further logistic regression, including only adolescents with chronic conditions (n=305), demonstrated that self-reported increase in screen time (OR 3.1; 95% CI 1.4-6.8; p=0.006) and intrafamilial violence report (OR 2.0; 95% CI 1.2-3.4; p=0.011) remained independently associated with poor quality of sleep, whereas a lower PODCI global function score was associated with a lower OR for sleep quality (OR 0.96; 95% CI 0.94-0.98; p<0.001). CONCLUSION: Self-reported increases in screen time and intrafamilial violence report impacted sleep quality in both healthy adolescents and those with chronic conditions. Decreased health-related quality of life was observed in adolescents with poor sleep quality.
12.
Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospital
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Fink, Thais T.
; Marques, Heloisa H.S.
; Gualano, Bruno
; Lindoso, Livia
; Bain, Vera
; Astley, Camilla
; Martins, Fernanda
; Matheus, Denise
; Matsuo, Olivia M.
; Suguita, Priscila
; Trindade, Vitor
; Paula, Camila S.Y.
; Farhat, Sylvia C.L.
; Palmeira, Patricia
; Leal, Gabriela N.
; Suzuki, Lisa
; Odone Filho, Vicente
; Carneiro-Sampaio, Magda
; Duarte, Alberto José S.
; Antonangelo, Leila
; Batisttella, Linamara R.
; Polanczyk, Guilherme V.
; Pereira, Rosa Maria R.
; Carvalho, Carlos Roberto R.
; Buchpiguel, Carlos A.
; Latronico, Ana Claudia
; Seelaender, Marilia
; Silva, Clovis Artur
; Pereira, Maria Fernanda B.
; Sallum, Adriana M. E.
; Brentani, Alexandra V. M.
; Neto, Álvaro José S.
; Ihara, Amanda
; Santos, Andrea R.
; Canton, Ana Pinheiro M.
; Watanabe, Andreia
; Santos, Angélica C. dos
; Pastorino, Antonio C.
; Franco, Bernadette D. G. M.
; Caruzo, Bruna
; Ceneviva, Carina
; Martins, Carolina C. M. F.
; Prado, Danilo
; Abellan, Deipara M.
; Benatti, Fabiana B.
; Smaria, Fabiana
; Gonçalves, Fernanda T.
; Penteado, Fernando D.
; Castro, Gabriela S. F. de
; Gonçalves, Guilherme S.
; Roschel, Hamilton
; Disi, Ilana R.
; Marques, Isabela G.
; Castro, Inar A.
; Buscatti, Izabel M.
; Faiad, Jaline Z.
; Fiamoncini, Jarlei
; Rodrigues, Joaquim C.
; Carneiro, Jorge D. A.
; Paz, Jose A.
; Ferreira, Juliana C.
; Ferreira, Juliana C. O.
; Silva, Katia R.
; Bastos, Karina L. M.
; Kozu, Katia
; Cristofani, Lilian M.
; Souza, Lucas V. B.
; Campos, Lucia M. A.
; Silva Filho, Luiz Vicente R. F.
; Sapienza, Marcelo T.
; Lima, Marcos S.
; Garanito, Marlene P.
; Santos, Márcia F. A.
; Dorna, Mayra B.
; Aikawa, Nadia E.
; Litvinov, Nadia
; Sakita, Neusa K.
; Gaiolla, Paula V. V.
; Pasqualucci, Paula
; Toma, Ricardo K.
; Correa-Silva, Simone
; Sieczkowska, Sofia M.
; Imamura, Marta
; Forsait, Silvana
; Santos, Vera A.
; Zheng, Yingying
.
OBJECTIVES: To prospectively evaluate demographic, anthropometric and health-related quality of life (HRQoL) in pediatric patients with laboratory-confirmed coronavirus disease 2019 (COVID-19) METHODS: This was a longitudinal observational study of surviving pediatric post-COVID-19 patients (n=53) and pediatric subjects without laboratory-confirmed COVID-19 included as controls (n=52) was performed. RESULTS: The median duration between COVID-19 diagnosis (n=53) and follow-up was 4.4 months (0.8-10.7). Twenty-three of 53 (43%) patients reported at least one persistent symptom at the longitudinal follow-up visit and 12/53 (23%) had long COVID-19, with at least one symptom lasting for >12 weeks. The most frequently reported symptoms at the longitudinal follow-up visit were headache (19%), severe recurrent headache (9%), tiredness (9%), dyspnea (8%), and concentration difficulty (4%). At the longitudinal follow-up visit, the frequencies of anemia (11% versus 0%, p=0.030), lymphopenia (42% versus 18%, p=0.020), C-reactive protein level of >30 mg/L (35% versus 0%, p=0.0001), and D-dimer level of >1000 ng/mL (43% versus 6%, p=0.0004) significantly reduced compared with baseline values. Chest X-ray abnormalities (11% versus 2%, p=0.178) and cardiac alterations on echocardiogram (33% versus 22%, p=0.462) were similar at both visits. Comparison of characteristic data between patients with COVID-19 at the longitudinal follow-up visit and controls showed similar age (p=0.962), proportion of male sex (p=0.907), ethnicity (p=0.566), family minimum monthly wage (p=0.664), body mass index (p=0.601), and pediatric pre-existing chronic conditions (p=1.000). The Pediatric Quality of Live Inventory 4.0 scores, median physical score (69 [0-100] versus 81 [34-100], p=0.012), and school score (60 [15-100] versus 70 [15-95], p=0.028) were significantly lower in pediatric patients with COVID-19 at the longitudinal follow-up visit than in controls. CONCLUSIONS: Pediatric patients with COVID-19 showed a longitudinal impact on HRQoL parameters, particularly in physical/school domains, reinforcing the need for a prospective multidisciplinary approach for these patients. These data highlight the importance of closer monitoring of children and adolescents by the clinical team after COVID-19.
13.
Septo-optic dysplasia with late-onset seizure: MRI and ophthalmological features
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Freitas, Julian Letícia
; Rezende Filho, Flávio Moura
; Lucato, Leandro Tavares
; Sallum, Juliana Maria
; Pedroso, José Luiz
; Barsottini, Orlando G.
.
https://doi.org/10.1590/0004-282x20190039
1132 downloads
14.
Retinal dystrophies and variants in PRPH2
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Palma, Mariana Matioli da
; Martin, Daniel
; Salles, Mariana Vallim
; Motta, Fabiana Louise Teixeira
; Abujamra, Suel
; Sallum, Juliana Maria Ferraz
.
Arquivos Brasileiros de Oftalmologia
- Métricas do periódico
RESUMO | Este relato apresenta três pacientes com diagnóstico de distrofias maculares com mutações no PRPH2. Periferina 2, a proteína deste gene, é importante na morfogênese e estabilização do segmento externo dos fotorreceptores. Deficiências de periferina 2 causam apoptose celular. Além disso, variantes patogênicas no PRPH2 estão relacionadas a diferentes doenças, como distrofia padrão, distrofia padrão em asa de borboleta, distrofia central areolar, distrofia viteliforme do adulto, retinose pigmentar, distrofia de cones e bastonetes, retinite punctata albscens, amaurose congênita de Leber, fundus flavimaculatus e doença de Stargardt.
ABSTRACT | This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.
https://doi.org/10.5935/0004-2749.20190033
2132 downloads
15.
A Vivência de Mães e Pais de Bebês Prematuros com Doença Ocular
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Resumo Esta pesquisa tem por objetivo identificar os aspectos psicológicos da experiência de mães e pais em relação à retinopatia da prematuridade (ROP) de seus filhos através de entrevista psicológica. As entrevistas foram transcritas e analisadas segundo a técnica de análise de conteúdo. O impacto do diagnóstico variou de acordo com a expectativa dos pais e a compreensão sobre a doença, sendo amenizado pelo suporte familiar e profissional. As dificuldades foram sentidas em relação ao posicionamento social da criança e suas limitações. Mães e pais adiaram projetos, apresentaram insegurança e receio de sequelas futuras. A assistência psicológica pode ocorrer desde o momento do diagnóstico, levando em consideração os significados compartilhados, promovendo a adequação de expectativas e priorizando a qualidade de vida da família.
Abstract This research aims to identify the psychological aspects of how parents experience their child’s retinopathy of prematurity (ROP), through a psychological interview. The interviews were transcribed and analyzed according to the content analysis method. The impact of the diagnosis varied according to the expectations of parents and their understanding of the disease, being softened by family and professional support. The difficulties were felt regarding the social positioning of the children and their limitations. Parents postponed projects, presented insecurity and fear of future sequels. Psychological assistance can occur since the time of diagnosis, considering the shared meanings, promoting the adequacy of expectations and prioritizing the family’s quality of life.
https://doi.org/10.1590/0102.3772e35nspe5
1074 downloads
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