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METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLK...
Nogueira,Zeni Drubi; Boa-Sorte,Ney; Leite,Maria Efigênia de Queiroz; Toralles,Maria Betânia Pereira; Amorim,TatianaABSTRACT Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. Methods: This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother’s age and schooling l...
Revisiting Keratoconjunctivitis sicca associated with Human T-Cell Lymphotropic...
Rathsam-Pinheiro,Regina Helena; Boa-Sorte,Ney; Grassi,Maria Fernanda Rios; Copello,Úrsula Cury; Rios,Karla Tayrine Silva Guimarães; Araújo,ThessikaABSTRACT Background: The prevalence of keratoconjunctivitis sicca (KCS) associated with Human T-Cell Lymphotropic Virus Type 1 (HTLV-1) (HTLV-1/KCS) has been estimated at around 37%, but its clinical manifestations are poorly described. Purpose: To determine the prevalence and associated factors of HTLV-1/KCS in a large cohort of HTLV-1-infected individuals living in Salvador, Brazil. Methods: A cross-sectional...
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 ...
Poloni,Soraia; Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the...
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Bra...
Cerqueira,Taíse Lima de Oliveira; Ramos,Yanne Rocha; Strappa,Giorgia Bruna; Jesus,Mariana Souza de; Santos,Jailciele Gonzaga; Sousa,CamilaABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realize...
Algorithm for dry eye disease diagnosis in individuals infected with human T-ce...
Castro-Lima-Vargens,Cristina; Grassi,Maria Fernanda Rios; Boa-Sorte,Ney; Rathsam-Pinheiro,Regina Helena; Almeida,Paula Caroline MatosABSTRACT Purpose: To evaluate the accuracy of lacrimal film tests and propose an algorithm for the diagnosis of dry eye disease in individuals infected with human T-cell lymphotropic virus type 1. Methods: Ninety-six patients infected with human T-cell lymphotropic virus type 1 were enrolled in the study. To assess clinical complaints, patients completed the Ocular Surface Disease Index questionnaire. To evalua...
Prevalência de sintomas otoneurológicos em indivíduos com hipotireoidismo congê...
Andrade,Caio Leônidas de; Machado,Gabriela Carvalho; Fernandes,Luciene da Cruz; Braga,Hélida; Boa-Sorte,Ney; Ramos,Helton Estrela; Alves,CrésioResumo Objetivo Investigar a frequência de sintomas otoneurológicos em crianças com hipotireoidismo congênito e relacioná-los com os aspectos clínicos. Métodos Estudo exploratório de caráter descritivo seccional. A casuística foi composta pelos pais e/ou cuidadores de 105 crianças com diagnóstico de hipotireoidismo congênito e com 5 anos ou mais de idade. A coleta de dados utilizou um questionário estruturado e...
Hemoglobin A2 values in sickle cell disease patients quantified by high perform...
Fonseca,Silvana Fahel da; Amorim,Tatiana; Purificação,Antônio; Gonçalves,Marilda; Boa-Sorte,NeyBACKGROUND: In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/ß0-thalassemia.OBJECTIVE: To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without concomitant alpha thalassemia.METHODS: This is a retrospecti...
Breastfeeding and the anthropometric profile of children with sickle cell anemi...
Nogueira,Zeni Drubi; Boa-Sorte,Ney; Leite,Maria Efigênia de Queiroz; Kiya,Márcia Miyuki; Amorim,Tatiana; Fonseca,Silvana Fahel daOBJECTIVE: To study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD). METHODS: A cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening Reference Service (NSRS) between November 2007 and January 2009. The outcome was anthropometric status and the exposures were: BF pattern, type of hemoglobinopat...
Lesão renal aguda séptica versus não séptica em pacientes graves: característic...
Cruz,Marília Galvão; Dantas,João Gabriel Athayde de Oliveira; Levi,Talita Machado; Rocha,Mário de Seixas; Souza,Sérgio Pinto de; Boa-Sorte,NeyObjetivo: Descrever e comparar as características e os desfechos clínicos de pacientes com lesão renal aguda séptica e não séptica. Métodos: Coorte aberta com 117 pacientes graves com lesão renal aguda consecutivamente admitidos em unidade de terapia intensiva, sendo excluídos aqueles que apresentavam doença renal crônica em estágio avançado, transplante renal, internação ou morte em um período inferior a 24 ho...
Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, to...
Boa-Sorte,Ney; Purificação,Antônio; Amorim,Tatiana; Assunção,Lorena; Reis,Alan; Galvão-Castro,BernardoIntroduction:Screening for vertically transmitted infection is mandatory and must be conducted at the first prenatal consultation. The most vulnerable women's groups are those at the lowest socio-economic level. Dried blood spot testing on filter paper could represent a secure way to screen pregnant women in the prenatal period.Methods:A cross-sectional study was conducted between November 2009 and March 2010, ...