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    Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN)

    Vaisbich, Maria Helena; Andrade, Luís Gustavo Modelli de; Silva, Cassiano Augusto Braga; Barreto, Fellype de Carvalho.
    J. bras. nefrol; 44 (2), 2022
    Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. The purpose of the present study was to create a consensus aiming to standardize the recommendations regarding the renal involvement of FD wi...
    Enfermedad de Fabry/etiología, Insuficiencia Renal Crónica/complicaciones, Manejo de Atención al Paciente, Enfermedad de Fabry/diagnóstico
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    Neurogenic bladder: concepts and treatment recommendations

    Truzzi, José Carlos; Almeida, Fernando Gonçalves de; Sacomani, Carlos Alberto; Reis, Joceara; Rocha, Flávio Eduardo Trigo.
    Int. braz. j. urol; 48 (2), 2022
    Bladder and urinary sphincter malfunctioning that results from some change in the central and/or peripheral nervous system is defined as neurogenic bladder. The urinary tract symptoms that can be related to its filling, emptying, or both have a significant impact on the quality of life of individuals. Th...
    Calidad de Vida, Encuestas y Cuestionarios, Vejiga Urinaria, Vejiga Urinaria Neurogénica/terapia, Sistema Urinario
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    Sleep quality in COPD patients: correlation with disease severity and health status

    Clímaco, Danielle Cristina Silva; Lustosa, Thais C; Silva, Marcus Vinícius de França Pereira; Lins-Filho, Ozeas L; Rodrigues, Valesca Kehrle; Oliveira-Neto, Luiz de Albuquerque P de; Feitosa, Audes Diógenes Magalhães; Queiroga Jr, Fernando José Pinho; Cabral, Marília Montenegro; Pedrosa, Rodrigo P.
    J. bras. pneumol; 48 (3), 2022
    To evaluate clinical predictors of poor sleep quality in COPD patients with and without obstructive sleep apnea (OSA). Methods: Consecutive stable patients with COPD were evaluated for OSA by means of overnight polysomnography; for sleep quality by means of the Pittsburgh Sleep Quality Index (PSQI); and...
    Enfermedad Pulmonar Obstructiva Crónica/complicaciones, Polisomnografía, Calidad del Sueño, Apnea Obstructiva del Sueño/complicaciones
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