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Impaired flexibility in patients with tropical spastic paraparesis/HTLV-associated myelopathy: evaluation via pendulum fleximeter
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Landim, Caroline

; Dias, Cristiane Maria Carvalho Costa

; Nascimento, Celso

; Goes, Ana Lucia Barbosa

; Araújo, Thessika Hialla Almeida

; Ribeiro, Adriele

; Oliveira, Francisco Tiago de

; Castro-Lima, Humberto

; Boa-Sorte, Ney

; Galvão-Castro, Bernardo

Arquivos de Neuro-Psiquiatria

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mar 2023, Volume 81 N. 3 Pages 271 - 283

Abstract: En Pt | Text: En Pt | PDF: En | PDF: Pt

Abstract Background Flexibility is crucial to the harmonious execution of joint movements. While skeletal muscle dysfunction in patients with HTLV-1 can interfere with mobility, it is unclear whether these patients experience reduced flexibility. Objective To evaluate the differences in flexibility between HTLV-1-infected individuals with and without myelopathy compared with uninfected controls. We also investigated whether age, sex, body mass index (BMI), physical activity level, or lower back pain influence flexibility in HTLV-1-infected individuals. Methods The sample consisted of 56 adults, of which 15 did not have HTLV-1, 15 had HTLV-1 without myelopathy, and 26 had TSP/HAM. Their flexibility was assessed using the sit-and-reach test and a pendulum fleximeter. Results No differences in flexibility were observed between the groups with and without myelopathy and controls without HTLV-1 infection using the sit-and-reach test. The pendulum fleximeter results of individuals with TSP/HAM presented the lowest flexibility among the groups with respect to trunk flexion, hip flexion and extension, knee flexion, and ankle dorsiflexion, even after adjusting for age, sex, BMI, level of physical activity, and lower back pain using multiple linear regression models. Additionally, HTLV-1-infected individuals without myelopathy demonstrated reduced flexibility in movements: knee flexion, dorsiflexion, and ankle plantar flexion. Conclusions Individuals with TSP/HAM demonstrated reduced flexibility in most of the movements evaluated by the pendulum fleximeter. Additionally, HTLV-1-infected individuals without myelopathy demonstrated reduced knee and ankle flexibility, potentially representing a marker of myelopathic development.

Resumo Antecedentes A flexibilidade é fundamental para a execução harmoniosa dos movimentos articulares. Embora a disfunção do músculo esquelético em pacientes com HTLV-1 possa interferir na mobilidade, não está claro se esses pacientes apresentam flexibilidade reduzida. Objetivo Avaliar as diferenças de flexibilidade entre os indivíduos infectados com e sem mielopatia e o grupo controle sem infecção HTLV-1. Também investigamos se idade, sexo, índice de massa corporal (IMC), nível de atividade física ou dor lombar influenciam a flexibilidade em indivíduos infectados pelo HTLV-1. Métodos A amostra foi composta por 56 adultos, dos quais 15 não possuíam HTLV-1, 15 possuíam HTLV-1 sem mielopatia e 26 possuíam TSP/HAM. A flexibilidade foi avaliada por meio do teste de sentar e alcançar e do flexímetro de pêndulo. Resultados Não foram observadas diferenças na flexibilidade entre os grupos com e sem mielopatia no teste de sentar e alcançar. Os resultados do flexímetro pendular dos indivíduos com TSP/HAM apresentaram a menor flexibilidade entre os grupos em relação à flexão do tronco, flexão e extensão do quadril, flexão do joelho e dorsiflexão do tornozelo, mesmo após ajuste para idade, sexo, IMC, nível de atividade física e dor lombar usando modelos de regressão múltipla linear. Além disso, os indivíduos infectados pelo HTLV-1 sem mielopatia demonstraram redução da flexibilidade nos movimentos de flexão do joelho, dorsiflexão e flexão plantar do tornozelo. Conclusão Indivíduos com TSP/HAM demonstraram redução da flexibilidade na maioria dos movimentos avaliados pelo flexímetro pendular. Além disso, indivíduos infectados pelo HTLV-1 sem mielopatia demonstraram redução da flexibilidade do joelho e tornozelo, representando potencialmente um marcador de desenvolvimento mielopático.

https://doi.org/10.1055/s-0043-1764417

Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil
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Godoy, Carolina

; Paixão, Danielle C.

; Boa-Sorte, Ney C.A.

; Amorim, Tatiana

; da Silva Filho, Luiz Vicente R.F.

; Souza Filho, Edna Lúcia

Jornal de Pediatria

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jan 2023, Volume 99 N. 1 Pages 23 - 30

Abstract: En | Text: En | PDF: En

Abstract Objective: To analyze the performance of the cystic fibrosis (CF) newborn screening (NBS) program over its first five years in a Brazilian northeastern state. Methods: A population-based study using a screening algorithm based on immunoreactive trypsinogen (IRT)/IRT. Data were retrieved from the state referral screening center registry. The program performance was evaluated using descriptive indicators such as the results of an active search, coverage, newborn’s age at the time of blood sampling, the time between sample collection and its arrival at the laboratory, and the child’s age at diagnosis of disease. Results: The public CF screening program covered 82.6% of the 1,017,576 births that occurred, with an accumulated five-year incidence of 1:20,767 live births. The median (25th-75th) age at diagnosis was 3.5 (2.3–7.3) months. The sampling before 7 days of life for the first IRT (IRT1) increased between 2013 and 2017 from 42.2 to 48.3%. Around 5% of IRT1 samples and 30% of the second samples were collected after 30 days of life. In the first and second stages of screening, 23.6% and 19.9% of the infants, respectively, were lost to follow-up. In both stages of screening, the samples were retained at the health units for a median (25th–75th) of 9.0 (7.0–13.0) days. Conclusions: The coverage by the CF-NBS program was satisfactory as compared to other Brazilian state rates and the percentage of IRT1 samples collected within the first week of life increased progressively. However, time of samples retention at the health units, inappropriate sampling, inherent methodological problems, and loss of follow-up need to improve.

https://doi.org/10.1016/j.jped.2022.04.002

METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA
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Nogueira, Zeni Drubi

; Boa-Sorte, Ney

; Leite, Maria Efigênia de Queiroz

; Toralles, Maria Betânia Pereira

; Amorim, Tatiana

Revista Paulista de Pediatria

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2021, Volume 39 elocation e2020095

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Objetivo: Caracterizar o controle metabólico e verificar se existe relação entre ele, variáveis socioeconômicas, demográficas e composição corporal de crianças e adolescentes com fenilcetonúria (FNC) diagnosticada no período neonatal. Métodos: Coorte com coleta retrospectiva de dados de 53 crianças e adolescentes fenilcetonúricos. Foram coletados dados de renda familiar, moradia, idade e escolaridade materna e realizaram-se medidas antropométricas de composição e distribuição corporal. Todas as dosagens de fenilalanina (Fal) dos últimos cinco anos (2015-2019) foram avaliadas e classificadas quanto à adequação (cortes: 0-12 anos: 2-6 mg/dL; 12-19 anos: 2-10 mg/dL). A proporção de dosagens adequadas ≥70% foi considerada como controle metabólico adequado. Resultados: A média (±desvio padrão) de idade, no último ano, foi de 10,1±4,6 anos. A maioria tinha menos de 12 anos (33/53; 62,3%) e apresentava a forma clássica da doença (39/53; 73,6%). Observou-se melhor controle metabólico entre os adolescentes (68,4 vs. 51,4%; p=0,019). Excesso de peso foi encontrado em 9/53 (17%) e maiores níveis séricos de Fal foram descritos nesse grupo (p<0,001). O percentual de controle metabólico com 70% ou mais de adequação dos níveis de Fal foi decrescente de acordo com a área muscular do braço (AMB; ptendência=0,042), sendo de 70% entre os de baixa reserva (AMB reduzida) e de 18,5% entre os com excesso (AMB elevada). Conclusões: Observou-se controle metabólico adequado na maioria dos avaliados e os achados sugerem que, nesta amostra, os níveis de fenilalanina podem estar relacionados com alterações da composição corporal.

ABSTRACT 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 level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges. Results: The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA). Conclusions: Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.

https://doi.org/10.1590/1984-0462/2021/39/2020095 874 downloads

Revisiting Keratoconjunctivitis sicca associated with Human T-Cell Lymphotropic Virus Type 1: prevalence, clinical aspects and proviral load
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Rathsam-Pinheiro, Regina Helena

; Boa-Sorte, Ney

; Grassi, Maria Fernanda Rios

; Copello, Úrsula Cury

; Rios, Karla Tayrine Silva Guimarães

; Araújo, Thessika

; Galvão-Castro, Bernardo

Brazilian Journal of Infectious Diseases

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mar 2019, Volume 23 N. 2 Pages 95 - 101

Abstract: En | Text: En | PDF: En

ABSTRACT 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 study was conducted between June 2004 and September 2017 at the Integrative and Multidisciplinary Center for HTLV in Salvador, Bahia-Brazil. Data from 758 HTLV-1-infected patients was collected. A complete ophthalmologic examination was performed in both eyes. Lacrimal function was evaluated by breakup time, Rose Bengal and Schirmer I Tests. KCS diagnosis was considered in the presence of at least two out of three positive tests. HTLV-1 proviral load Crude and Adjusted Prevalence Rates (PR) with 95% Confidence Intervals (95% CI) were estimated using multivariate Poisson Regression with robust error variance. Results: The overall prevalence of KCS was 31.7%, with higher rates observed in HTLV-1-associated myelopathy/tropical spastic paraparesis patients (crude PR: 1.84; CI95%: 1.50-2.26) even after adjusting for age, sex, time of HTLV-1 diagnosis and schooling (adjusted PR: 1.63; CI95%: 1.31-2.02). Proviral load, low corrected visual acuity, burning and/or pain and itching were all significantly higher in patients with KCS. Conclusion: Burning and/or pain and itching and low corrected visual acuity were the most common alterations of HTLV-1/KCS. High Proviral load was found to be associated with the presence of KCS. It is strongly recommended that HTLV-1 patients undergo periodic ophthalmologic examination to promote the early diagnosis of KCS and prevent the consequences associated with dry eye disease.

https://doi.org/10.1016/j.bjid.2019.04.002 501 downloads

Increasing awareness of human T-lymphotropic virus type-1 infection: a serious, invisible, and neglected health problem in Brazil
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Puccioni-Sohler, Marzia

; Grassi, Maria Fernanda Rios

; Galvão-Castro, Bernardo

; Caterino, Adele

; Proietti, Anna Bárbara de Freitas Carneiro

; Vicente, Ana Carolina Paulo

; Galvão-Castro, Ana Verena

; Vallinoto, Antonio Carlos

; Paiva, Arthur

; Penalva, Augusto

; Rosadas, Carolina

; Miyashiro, Denis

; Barbosa, Edel Figueiredo

; Carvalho, Edgar Marcelino de

; Batista, Everton da Silva

; Smid, Jerusa

; Casseb, Jorge

; Vidal, Jose

; Sousa, Maisa Silva

; Viana, Maria Graça de Castro

; Bastos, Michele de Souza

; Lírio, Monique

; Boa-Sorte, Ney

; Ferreira Jr, Orlando C.

; Takayanagui, Osvaldo

; Moura, Patrícia

; Rocco, Regina

; Cunha, Rodrigo Guimaraes

; Haddad, Simone Kashima

; Assone, Tatiane

; Araújo, Thessika Hialla Almeida

Revista da Sociedade Brasileira de Medicina Tropical

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2019, Volume 52 elocation e20190343

Abstract: En | Text: En | PDF: En

https://doi.org/10.1590/0037-8682-0343-2019 953 downloads

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis
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Cerqueira, Taíse Lima de Oliveira

; Ramos, Yanne Rocha

; Strappa, Giorgia Bruna

; Jesus, Mariana Souza de

; Santos, Jailciele Gonzaga

; Sousa, Camila

; Carvalho, Gildásio

; Fernandes, Vladimir

; Boa-Sorte, Ney

; Amorim, Tatiana

; Silva, Thiago Magalhães

; Ladeia, Ana Marice Teixeira

; Acosta, Angelina Xavier

; Ramos, Helton Estrela

Archives of Endocrinology and Metabolism

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aug 2018, Volume 62 N. 4 Pages 466 - 471

Abstract: En | Text: En | PDF: En

ABSTRACT 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 realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. Results: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). Conclusions: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.

https://doi.org/10.20945/2359-3997000000065 1088 downloads

Glucose alteration and insulin resistance in asymptomatic obese children and adolescents
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Assunção, Silvana Neves Ferraz de

; Boa Sorte, Ney Christian Amaral

; Alves, Crésio de Aragão Dantas

; Mendes, Patricia S. Almeida

; Alves, Carlos Roberto Brites

; Silva, Luciana Rodrigues

Jornal de Pediatria

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jun 2018, Volume 94 N. 3 Pages 268 - 272

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo Objetivo A obesidade está associada ao metabolismo da glicose anormal que antecede o diabetes mellitus tipo 2. Assim, uma investigação adicional sobre a predição desse resultado letal deve ser antecipada. O objetivo era a avaliação do perfil glicêmico de crianças e adolescentes obesos assintomáticos de Salvador, Brasil. Método Uma amostra de sangue venoso em jejum foi obtida de 90 indivíduos obesos consecutivos entre 8-18 anos, de ambos os sexos, para determinações laboratoriais de hemoglobina glicosilada, insulina basal e Índice do Modelo de Avaliação da Homeostase de Resistência à Insulina (HOMA-IR). A avaliação clínica incluiu peso, estatura, circunferência da cintura, avaliação do desenvolvimento puberal e pesquisa sobre a acantose nigricans. Utilizamos o indicador de índice de massa corporal/idade referente à gravidade da avaliação de sobrepeso. Resultados Alterações glicêmicas foram comprovadas clínica e bioquimicamente, apesar de esses indivíduos não apresentarem queixas ou sintomas relacionados a níveis de açúcar no sangue. Variáveis quantitativas e qualitativas foram, respectivamente, medidas expressas de tendência central/dispersão e amostra/frequência relativa, com o software Pacote Estatístico para as Ciências Sociais, versão 20.0. O valor de p < 0,05 foi considerado significativo. Conclusão Observamos, contudo, alta prevalência de distúrbios de glicose e insulina em crianças e adolescentes obesos assintomáticos.

Abstract Objective Obesity is associated with the abnormal glucose metabolism preceding type 2 diabetes mellitus. Thus, further investigation on the prediction of this lethal outcome must be sought. The objective was the profile glycemic assessment of asymptomatic obese children and adolescents from Salvador, Brazil. Method A fasting venous blood sample was obtained from 90 consecutive obese individuals aged 8-18 years, of both sexes, for laboratory determinations of glycated hemoglobin, basal insulin, and the Homeostasis Model Assessment Insulin Resistance index. The clinical evaluation included weight, height, waist circumference, assessment of pubertal development, and acanthosis nigricans research. The body mass index/age indicator was used for the severity of overweight assessment. Results Glycemic alterations were evidenced clinically and biochemically, although these individuals had no complaints or symptoms related to blood sugar levels. Quantitative and qualitative variables were respectively expressed measures of central tendency/dispersion and simple/relative frequency, using the SPSS, version 20.0. A p-value <0.05 was considered significant. Conclusion Notably, this study found a high prevalence of glucose and insulin disorders in asymptomatic obese children and adolescents.

https://doi.org/10.1016/j.jped.2017.06.008 5819 downloads

Nonalcoholic steatohepatitis in posttransplantation liver: Review article
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Andrade, Antônio Ricardo Cardia Ferraz de

; Cotrim, Helma P.

; Bittencourt, Paulo L.

; Almeida, Carolina G.

; Sorte, Ney Christian Amaral Boa

Revista da Associação Médica Brasileira

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feb 2018, Volume 64 N. 2 Pages 187 - 194

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo Introdução: A doença hepática gordurosa não alcoólica (DHGNA) é a terceira causa de transplante hepático no mundo. Tem elevada prevalência após transplante hepático (TH) e é representada pela recorrência da esteato-hepatite (NASH), ou por NASH de novo, que ocorre em pacientes transplantados por outra etiologia. Objetivo: Realizar uma revisão da literatura para avaliar a relevância da recorrência ou do NASH de novo em pacientes transplantados de fígado. Método: Realizada revisão da literatura através de artigos indexados no Medline, Scielo e Lilacs até 2016 publicados em inglês e português. Foram considerados elegíveis estudos que incluíram local e ano de publicação, prevalência e características clínicas dos pacientes. Resultados: Foram identificados 110 artigos e selecionados 63, que avaliaram a recorrência de NASH, NASH de novo e sobrevida após o TH. A sobrevida foi de 90% a 100% em um ano e de 52-100% em 5 anos. A recorrência de esteatose variou de 15-100% e a de NASH de 4-71%, enquanto esteatose e NASH de novo variaram de 18-67% e 3-17%, respectivamente. A frequência de síndrome metabólica, diabetes, dislipidemia e hipertensão variaram de 45-58%, 18-59%, 25-66% e 52-82%, respectivamente. Conclusão: No pós-transplante de fígado, os pacientes apresentam elevada prevalência de recorrência, de NASH de novo e de distúrbios metabólicos. Entretanto, essas alterações parecem não influenciar a sobrevida dos pacientes.

Summary Introduction: Nonalcoholic steatohepatitis (NASH) associated or not with cirrhosis is the third leading indication for liver transplantation (LT) around the world. After transplants, NASH has a high prevalence and occurs as both recurrent and de novo manifestations. De novo NASH can also occur in allografts of patients transplanted for non-NASH liver disease. Objective: To evaluate recurrent or de novo NASH in post-LT patients. Method: A literature review was performed using search engines of indexed scientific material, including Medline (by PubMed), Scielo and Lilacs, to identify articles published in Portuguese and English until August 2016. Eligible studies included: place and year of publication, prevalence, clinical characteristics, risk factors and survival. Results: A total of 110 articles were identified and 63 were selected. Most of the studies evaluated recurrence and survival after LT. Survival reached 90-100% in 1 year and 52-100% in 5 years. Recurrence of NAFLD (steatosis) was described in 15-100% and NASH, in 4-71%. NAFLD and de novo NASH were observed in 18-67% and 3-17%, respectively. Metabolic syndrome, diabetes mellitus, dyslipidemia and hypertension were seen in 45-58%, 18-59%, 25-66% and 52-82%, respectively. Conclusion: After liver transplants, patients present a high prevalence of recurrent and de novo NASH. They also show a high frequence of metabolic disorders. Nevertheless, these alterations seem not to influence patient survival.

https://doi.org/10.1590/1806-9282.64.02.187 2216 downloads

Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
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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.

; Kim, Chong A.

; Souza, Carolina F. M. de

; Rocha, Helio

; Ribeiro, Marcia

; Steiner, Carlos E.

; Moreno, Carolina A.

; Bernardi, Pricila

; Valadares, Eugenia

; Artigalas, Osvaldo

; Carvalho, Gerson

; Wanderley, Hector Y. C.

; D’Almeida, Vânia

; Santana-da-Silva, Luiz C.

; Blom, Henk J.

; Schwartz, Ida V. D.

Journal of Inborn Errors of Metabolism and Screening

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2018, Volume 6 elocation e180007

Abstract: En | Text: En | PDF: En

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 earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.

https://doi.org/10.1177/2326409818788900 1352 downloads

10.

Algorithm for dry eye disease diagnosis in individuals infected with human T-cell lymphotropic virus type 1
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Castro-Lima-Vargens, Cristina

; Grassi, Maria Fernanda Rios

; Boa-Sorte, Ney

; Rathsam-Pinheiro, Regina Helena

; Almeida, Paula Caroline Matos

; Galvão-Castro, Bernardo

Arquivos Brasileiros de Oftalmologia

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dec 2017, Volume 80 N. 6 Pages 369 - 372

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

RESUMO Objetivo: Avaliar a precisão da propedêutica do filme lacrimal e propor um algoritmo para o diagnóstico da doença do olho seco em indivíduos infectados com Vírus linfotrópico de células-T humanas tipo 1. Métodos: Noventa e seis pacientes infectados com o vírus linfotrópico de células T humana tipo 1 foram incluídos no estudo. Para avaliar sintomatologia, os pacientes responderam o questionário Índice para Doenças da Superfície Ocular. A fim de avaliar a qualidade do filme lacrimal, os pacientes foram submetidos ao teste de ruptura do filme lacrimal, teste de Schirmer I e coloração com Rosa Bengala. A doença do olho seco foi diagnosticada quando, pelo menos, dois dos testes ruptura do filme lacrimal, teste de Schirmer I e coloração com Rosa Bengala) eram anormais. Foram determinados sensibilidade, especificidade, valor preditivo positivo e negativo e acurácia do questionário e de cada teste sozinho e combinados em paralelo e em série. Resultados: O teste de ruptura do filme lacrimal foi o mais sensível (98%) e o teste de Schirmer I foi o mais específico (100%). A maior acurácia foi encontrada no teste de coloração com Rosa Bengala (88,64%), enquanto sintomas avaliados usando o questionário Índice para Doenças da Superfície Ocular teve a menor acurácia geral (62,65%). O teste de ruptura do filme lacrimal, teste de Schirmer I e Questionário de Doença da Superfície Ocular quando combinados em paralelo mostraram um aumento da sensibilidade e uma diminuição na especificidade de todos os testes. Por outro lado, combinados em série, teste de ruptura do filme lacrimal, Schirmer I e questionário Índice para Doenças da Superfície Ocular tiveram um aumento na especificidade e sensibilidade diminuída. Conclusão: Este estudo apontou a necessidade de utilizar mais do que um teste para avaliar a qualidade do filme lacrimal, bem como utilizar um questionário de sintomas como parte do algoritmo de diagnóstico para doença do olho seco.

ABSTRACT 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 evaluate lacrimal film quality, patients underwent the tear breakup time test, Schirmer I test, and Rose Bengal staining. Dry eye disease was diagnosed when at least two of the three test results were abnormal. The sensitivity, specificity, positive and negative predictive values, and overall accuracy of the questionnaire as well as of each test alone and combined in parallel and in series were determined. Results: The most sensitive test was the tear breakup time test (98%), whereas the most specific was the Schirmer I test (100%). Rose Bengal staining had the highest overall accuracy (88.64%), whereas the Ocular Surface Disease Index had the lowest overall accuracy (62.65%). The tear breakup time test, Schirmer I test, and Ocular Surface Disease Index combined in parallel showed increased sensitivity and decreased specificity for all tests. In contrast, when combined in series, these tests demonstrated increased specificity and decreased sensitivity. Conclusion: This study shows the need to use multiple tests to evaluate tear film quality and include a symptom questionnaire as part of the diagnostic algorithm for dry eye disease.

https://doi.org/10.5935/0004-2749.20170090 897 downloads

11.

Nonalcoholic fatty liver disease (NAFLD) pathophysiology in obese children and adolescents: update
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Neves Ferraz de Assunção, Silvana

; Boa Sorte, Ney Christian

; Dantas Alves, Crésio

; Almeida Mendes, Patricia S

; Brites Alves, Carlos Roberto

; Rodrigues Silva, Luciana

Nutrición Hospitalaria

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jun 2017, Volume 34 N. 3 Pages 727 - 730

Abstract: En Es | Text: En Es | PDF: En | PDF: Es

Abstract Objective: Although the nonalcoholic fatty liver disease was first identified in 1980, it presents multifactorial and unclear pathophysiology. In this review, we intend to update the pathophysiological mechanisms of a high morbidity and mortality associated disease that is affecting obese children worldwide. Data sources: The PubMed and the Cochrane Library databases were used in the search strategy for articles related to nonalcoholic fatty liver disease and published in the last three decades. Data summary: This review describes the current knowledge on the different mechanisms related to the pathophysiology of nonalcoholic fatty liver disease focused on histological, anatomical and biochemical aspects involved in triggering steatohepatitis and leading to cirrhosis. Conclusions: The clinical research and advanced technological resources demonstrated several determinants pathophysiological mechanisms of nonalcoholic fatty liver disease trying to assist in their treatment and change its natural course.

Resumen Objetivo: aunque la enfermedad de hígado graso no alcohólico se identificó por primera vez en 1980, presenta una fisiopatología multifactorial y mal definida. En esta revisión, tenemos la intención de actualizar los mecanismos fisiopatológicos de esta enfermedad con alta morbilidad y mortalidad asociadas que está afectando a niños obesos en todo el mundo. Fuentes de datos: las bases de datos PubMed y la Biblioteca Cochrane se utilizaron en la estrategia de búsqueda de los artículos relacionados con la enfermedad de hígado graso no alcohólico publicados en las últimas tres décadas. Resumen de datos: esta revisión describe el conocimiento actual acerca de los diferentes mecanismos relacionados con la fisiopatología de la enfermedad de hígado graso no alcohólico, con especial énfasis en aspectos histológicos, anatómicos y bioquímicos implicados en el desencadenamiento de la esteatohepatitis y conducentes a la cirrosis. Conclusiones: la investigación clínica y los recursos tecnológicos avanzados han demostrado diversos mecanismos fisiopatológicos determinantes de la enfermedad de hígado graso no alcohólico, tratando de ayudar en su tratamiento y cambiar su curso.

https://doi.org/10.20960/nh.723 606 downloads

12.

Prevalência de sintomas otoneurológicos em indivíduos com hipotireoidismo congênito: estudo piloto
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Andrade, Caio Leônidas de

; Machado, Gabriela Carvalho

; Fernandes, Luciene da Cruz

; Braga, Hélida

; Boa-Sorte, Ney

; Ramos, Helton Estrela

; Alves, Crésio

Cadernos Saúde Coletiva

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apr 2017, Volume 25 N. 2 Pages 144 - 151

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo 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 elaborado e testado pelos pesquisadores. As informações clínicas e laboratoriais foram obtidas dos prontuários médicos. Resultados A maioria dos indivíduos (72,4%) demonstrou sintomas relacionados à disfunção vestibulococlear, na qual a tontura/vertigem correspondeu a 56,2% dos sintomas, seguida pela hipoacusia (43,8%) e pelo zumbido (12,4%). Houve correlação estatística entre os sintomas de hipoacusia (p=0,016) e a idade para o teste de rastreio neonatal, bem como os sintomas de tontura/vertigem com a etiologia do hipotireoidismo congênito (p=0,003). Na percepção da hipoacusia (RP=0,49; IC=0,31-0,77), a exposição ao fator demonstrou associação com a probabilidade de 95%. Conclusão Os achados sugerem significativa prevalência e associação entre hipotireoidismo congênito e sintomas otoneurológicos, especialmente tontura, hipoacusia e zumbido.

Abstract Purpose To investigate the frequency of otoneurological symptoms in children with congenital hypothyroidism and correlate them to the clinical aspects. Methods Exploratory study of sectional descriptive character. The sample was composed by parents and/or caregivers of 105 children diagnosed with congenital hypothyroidism and age of 5 years or more. Data collection used a structured questionnaire developed and tested by researchers. Clinical and laboratory data were obtained from medical records. Results Most subjects (72.4%) showed symptoms related to vestibulocochlear disorder, in which dizziness/vertigo corresponded to 56.2% of symptoms, followed by hearing loss (43.8%) and tinnitus (12.4%). We observed statistical correlation between hearing loss (p = 0.016) and age of neonatal screening test, as well as symptoms of dizziness/vertigo with congenital hypothyroidism (p = 0.003). For hearing loss (PR = 0.49; CI = 0.31 to 0.77), the exposure factor showed a correlation with the probability of 95%. Conclusion These findings suggest a significant prevalence and association between congenital hypothyroidism and otoneurological symptoms, especially dizziness, hearing loss and tinnitus.

https://doi.org/10.1590/1414-462x201700020106 2430 downloads

13.

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia
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Fonseca, Silvana Fahel da

; Amorim, Tatiana

; Purificação, Antônio

; Gonçalves, Marilda

; Boa-Sorte, Ney

Revista Brasileira de Hematologia e Hemoterapia

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oct 2015, Volume 37 N. 5 Pages 296 - 301

Abstract: En | Text: En | PDF: En

BACKGROUND: 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 retrospective study of 242 children aged between two and six years with diagnoses of Hb SS or Hb SC. The hemoglobin was evaluated using high performance liquid chromatography and alpha thalassemia [3.7 kb deletion (-a3.7)] was detected by polymerase chain reaction. Patients were classified as homozygous (-a3.7/-a3.7), heterozygous (-a3.7/a), or homozygous wild-type. Analysis of variance was used to compare the mean Hb A2 values between the alpha thalassemia groups.RESULTS: The mean (± standard deviation) Hb A2 concentrations in the Hb SS group (n = 135) was 3.68 ± 0.65%. The mean values for individuals with Hb SS and heterozygous (n = 28) or homozygous for alpha thalassemia (n = 3) were 3.98 ± 0.64% and 4.73 ± 0.25%, respectively. The mean Hb A2 of all the Hb SC patients (n = 107) was 4.01 ± 0.507 with 4.29 ± 0.41% and 4.91 ± 0.22% in individuals heterozygous (n = 23) and homozygous for alpha thalassemia (n = 7), respectively. All patients homozygous for alpha thalassemia had Hb A2 levels above 3.5%. However, Hb A2 values above 5.2% were seen in patients with Hb SS and Hb SC, independently of alpha thalassemia.CONCLUSION: Hb A2 levels are elevated in patients with Hb S or Hb C, and are directly influenced by the alpha thalassemia genotypes.

https://doi.org/10.1016/j.bjhh.2015.05.005 1900 downloads

14.

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service
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Nogueira, Zeni Drubi

; Boa-Sorte, Ney

; Leite, Maria Efigênia de Queiroz

; Kiya, Márcia Miyuki

; Amorim, Tatiana

; Fonseca, Silvana Fahel da

Revista Paulista de Pediatria

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jun 2015, Volume 33 N. 2 Pages 154 - 159

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

OBJETIVO: Descrever a história de aleitamento materno (AM) e estado antropométrico de crianças com doença falciforme (DF). MÉTODOS: Estudo transversal com 357 crianças com hemoglobinopatias SS e SC de dois e seis anos, acompanhadas regularmente num Serviço de Referência em Triagem Neonatal (SRTN) entre novembro de 2007 e janeiro de 2009. O desfecho correspondeu ao estado antropométrico e as exposições foram: padrão do AM, tipo de hemoglobinopatia, faixa etária e sexo da criança. RESULTADOS: A média (DP) de idade observada foi de 3,7 (1,1) anos, 52,9% meninos e 53,5% com hemoglobinopatia SS. A prevalência de aleitamento materno exclusivo (AME) até o sexto mês foi de 31,5%, a mediana (p25-p75) do tempo de AME foi de 90 (24-180) dias e a mediana (p25-p75) da idade de desmame foi de 360 (90-720) dias. Crianças eutróficas em relação ao P/A tiveram o tempo de AME, em média, quase quatro vezes maior do que os desnutridos (p < 0,01), bem como foram desmamadas mais tarde (p < 0,05). O déficit de altura foi encontrado em 5% das crianças e todas as crianças com baixa estatura grave tinham hemoglobinopatia SS e mais de quatro anos. CONCLUSÕES: O tempo de AME e a idade de desmame foram superiores aos encontrados na literatura, possível efeito do acompanhamento multidisciplinar. A duração do AME e a idade mais tardia de desmame foram associadas a melhores indicadores antropométricos.

OBJECTIVE: 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 hemoglobinopathy and child's age and gender. RESULTS: The mean (SD) age was 3.7 (1.1) years, 52.9% were boys and 53.5% had SCA (hemoglobin SS). The prevalence of exclusive breastfeeding (EBR) up to six months of age was 31.5%, the median EBR times (p25-p75) was 90.0 (24.0-180.0) days and the median weaning ages (p25-p75) was 360.0 (90.0-720.0) days respectively. Normal W/H children experienced EBR for a mean duration almost four times longer than malnourished children (p=0.01), and were weaned later (p<0.05). Height deficit was found in 5.0% of children, while all the children with severe short stature had had SCA (hemoglobin SS) and were older than 4 years of age. CONCLUSIONS: EBF time and weaning age were greater than that found in the literature, which is a possible effect of the multidisciplinary follow-up. Duration of EBF and later weaning were associated with improved anthropometric indicators.

https://doi.org/10.1016/j.rpped.2014.11.006 3716 downloads

15.

HAM/TSP and major depression: the role of age
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Boa-Sorte, Ney

; Galvão-Castro, Ana Verena

; Borba, Danilo

; Lima, Renan Barbalho Nunes de Castro

; Galvão-Castro, Bernardo

Brazilian Journal of Infectious Diseases

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jun 2015, Volume 19 N. 3 Pages 314 - 318

Abstract: En | Text: En | PDF: En

Objective: To investigate the role of demographic variables in the relationship between the presence of HAM/TSP and current major depression.Methods: It is a cross-sectional study of 108 HTLV-1 infected patients (47 with TSP/HAM) resident of Salvador, Brazil. The Mini International Neuropsychiatric Interview, Brazilian Version 5 was used to evaluate the presence of depression. Prevalence ratios were used to describe relationship between HAM/TSP and depression. The HAM/TSP classification was carried out according to the criteria proposed by Castro-Costa et al.Results: Prevalence of depression was 37.96%. No association was observed between presence of HAM/TSP and diagnosis of current major depression in the global analysis of patients (PR: 0.94; CI 95%: 0.57-1.55). In the stratified analysis, however, greater prevalence of depres- sion was observed amongst individuals with HAM/TSP in the 18-39 age group (PR: 2.59; CI 95%: 1.36-4.95).Conclusion: Our findings suggest that age is an effect modifier in the relationship between HAM/TSP and depression, and this aspect should be considered in future studies on the topic.

https://doi.org/10.1016/j.bjid.2014.12.003 1020 downloads

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