Telemonitoring in Home Mechanical Ventilation

Autor: Katia Vanessa Cantarini, Rosineide Pereira Sanches, Vanessa Vieira Donini, Ruy Pires, Heloisa Amaral Gaspar

Publikováno v: Jornal Brasileiro de Pneumologia, Vol 48, Iss 6 (2022)

Externí odkaz: https://doaj.org/article/ba36a58de8e44e48acb678032dc33dbd

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Autor: Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Márcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Doederlein Schwartz

Publikováno v: Genetics and Molecular Biology, Vol 37, Iss 1, Pp 23-29 (2014)

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label

Externí odkaz: https://doaj.org/article/b5e137168bde4fdea6f2ae68bea6daca

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Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB

Autor: Ruy Pires de Oliveira Sobrinho, Yorran Hardman Araújo Montenegro, Guilherme Baldo, Fabiano de Oliveira Poswar, Roberto Giugliani, Carlos Eduardo Steiner

Publikováno v: Psychiatric genetics. 31(5)

Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient that, at earl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d793d4fa77df6dde38b0bb52533ebe5a
https://pubmed.ncbi.nlm.nih.gov/34347683

Brazilian Versions of the Physical Function ICU Test-scored and de Morton Mobility Index: translation, cross-cultural adaptation, and clinimetric properties

Autor: Vinicius Zacarias Maldaner da Silva, Amanda Sanches Lima, Hillana Nadiele Santos Alves, Ruy Pires-Neto, Linda Denehy, Selina M. Parry

Publikováno v: Jornal Brasileiro de Pneumologia v.46 n.4 2020
Jornal Brasileiro de Pneumologia
Sociedade Brasileira de Pneumologia e Tisiologia (SBPT)
instacron:SBPT
Jornal Brasileiro de Pneumologia, Volume: 46, Issue: 4, Article number: e20180366, Published: 17 APR 2020
Jornal Brasileiro de Pneumologia, Vol 46, Iss 4 (2020)

RESUMO Objetivo O objetivo do presente estudo foi traduzir e adaptar culturalmente o PFIT-s e o DEMMI ao português brasileiro. Métodos Este estudo consistiu na tradução, síntese e retrotradução da versão original do PFIT-s e DOMMI, incluindo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5afc4d6b8e930b95e4ae422f659b53bf
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-37132020000400202