Impaired flexibility in patients with tropical spastic paraparesis/HTLV-associated myelopathy: evaluation via pendulum fleximeter / Flexibilidade prejudicada em pacientes com paraparesia espástica tropical/mielopatia associada ao HTLV: avaliação via flexímetro pendular

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.

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

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.

Metabolic control and body composition of children and adolescents with phenylketonuria / Controle metabólico e composição corporal de crianças e adolescentes com diagnóstico neonatal de fenilcetonúria

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.

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.

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

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.

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

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.

Glucose alteration and insulin resistance in asymptomatic obese children and adolescents / Alteração de glicose e resistência à 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.

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.

Performance of commercially available serological screening Tests for human T-Cell lymphotropic virus infection in Brazil

ABSTRACT Serological screening for human T-cell lymphotropic virus type 1 (HTLV-1) is usually performed using enzyme-linked immunosorbent assay (ELISA), particle agglutination, or chemiluminescence assay kits. Due to an antigen matrix improvement entailing the use of new HTLV antigens and changes in the format of HTLV screening tests, as well as newly introduced chemiluminescence assays (CLIAs), a systematic evaluation of the accuracy of currently available commercial tests is warranted. We aimed to assess the performance of commercially available screening tests for HTLV infection diagnosis. A diagnostic accuracy study was conducted on a panel of 397 plasma samples: 200 HTLV-negative plasma samples, 170 HTLV-positive plasma samples, and 27 plasma samples indeterminate by Western blotting (WB). WB-indeterminate samples (i.e., those yielding no specific bands for HTLV-1 and/or HTLV-2) were assessed by PCR, and the results were used to compare agreement among the commercially available ELISA screening tests. For performance analysis, WB-indeterminate samples were excluded, resulting in a final study panel of 370 samples. Three ELISA kits (Murex HTLV-1/2 [Murex], anti-HTLV-1/2 SYM Solution [SYM Solution], and Gold ELISA HTLV-1/2 [Gold ELISA]) and one CLIA kit (Architect rHTLV- 1/2) were evaluated. All screening tests demonstrated 100% sensitivity. Concerning the HTLV-negative samples, the SYM Solution and Gold ELISA kits had specificity values of 99.5%, while the Architect rHTLV-1/2 test presented 98.1% specificity, followed by Murex, which had a specificity of 92.0%. Regarding the 27 samples with WB-indeterminate results, after PCR confirmation, all ELISA kits showed 100% sensitivity but low specificity. Accuracy findings were corroborated by the use of Cohen's kappa value, which evidenced slight and fair agreement between PCR analysis and ELISAs for HTLV infection diagnosis. Based on the data, we believe that all evaluated tests can be safely used for HTLV infection screening.

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

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.

Algorithm for dry eye disease diagnosis in individuals infected with human T-cell lymphotropic virus type 1 / Algoritmo para o diagnóstico da doença do olho seco em indivíduos infectados com vírus linfotrópico de células-T humanas tipo 1

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.

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.

Prevalência de sintomas otoneurológicos em indivíduos com hipotireoidismo congênito: estudo piloto / Prevalence of otoneurological symptoms in individuals with congenital hypothyroidism: pilot study

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.

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

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.

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service / Aleitamento materno e perfil antropométrico de crianças com doença falciforme acompanhadas em serviço de referência em triagem neonatal

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.

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.

Lesão renal aguda em pacientes em uso de inibidor da enzima conversora de angiotensina para tratar insuficiência cardíaca descompensada / Acute kidney injury in patients using angiotensin-converting enzyme inhibitors to treat decompensated heart failure

JUSTIFICATIVA E OBJETIVO: Esse estudo procurou descrevera incidência de lesão renal aguda (LRA) em pacientes com insuficiência cardíaca (IC) descompensada pós uso de inibidor de enzima conversora de angiotensina (IECA) e o perfil clínico-epidemiológico desses pacientes. MÉTODOS: Trata-se de um estudo de coorte prospectiva. Foram incluídos no estudo pacientes com insuficiência cardíaca classe IV segundo critérios doNew York Heart Association (NYHA) descompensada admitidos nas enfermarias de Clínica Médica do Hospital Santo Antônio no período de 01/03/2011 a 30/10/2012. Foram excluídos pacientescom doença renal crônica estágios III, IV, V e com dados incompletos. A lesão renal aguda foi definida de acordo como critério RIFLE (Risk/Injury/Failure/Loss/End-stage). Os dados foram analisados através do programa estatístico SPSS 14.0.Esse projeto foi aprovado pelo Comitê de Ética e Pesquisa do Hospital Santo Antônio. RESULTADOS: Dos 100 pacientes estudados, a maioria era do sexo masculino, de etnia afrodescendentee apresentavam como etiologia da insuficiência cardíaca amiocardiopatia chagásica crônica. O sexo feminino, a presença de hipertensão arterial prévia, maiores valores médios basais depressão arterial sistólica (PAS) e pressão arterial diastólica (PAD)e maiores valores médios de idade foram associados à ocorrência de lesão renal aguda, bem como valores médios mais elevados de creatinina sérica basal. Doses médias maiores de inibidores de enzima conversora de angiotensina e de furosemida venosadurante a primeira semana de tratamento foram associadas à ocorrência lesão renal aguda. A área sob a curva ROC (Receiver Operating Characteristic) Curve (AuROC) para uso de inibidores da enzima conversora de angiotensina foi de 0,70 com p=0,001...

BACKGROUND AND OBJECTIVE: This study sought to describe the incidence of acute kidney injury (AKI) in patients with decompensated heart failure after angiotensin converting enzyme (ACE) inhibitors and the clinical - epidemiological profile of these patients. METHODS: This is a prospective cohort study. Patients with New York Heart Association (NYHA) class IV were included in the study. They were admitted in thewards of Internal Medicine, Hospital Santo Antonio in theperiod from 01/03/2011 to 30/10/2012. Patients with chronic kidney disease stages III, IV, V, and without complete data were excluded. Acute kidney injury was defined according to the RIFLE (Risk/Injury/Failure/Loss/End-stage) criteria. Data were analyzed using SPSS 14.0 statistical program. This project was approved by the Ethics and Research Comitee of Hospital St. Anthony. RESULTS: Of the 100 patients, the majority were male, of african descente and and had Chagas´ cardiomyopathy as a cause of heart failure. Females, the presence of previous hypertension and higher baseline mean of diastolic or sistolic pressure and higher mean values of age were associated with the occurrence of acute kidney injury, as well as higher values of baseline serum creatinine. Higher doses of angiotensin converting enzyme inhibitors and furosemide were associated with the occurrence of renal injury. The area under the Receiver Operating Characteristic (ROC) Curve (AUROC) for angiotensin converting enzyme inhibitors (ACEI) was 0.70 with p-0.001. CONCLUSION: High doses of angiotensin converting enzyme inhibitors and intravenous furosemide are associated with acute kidney injury especially in the first week of introduction of angiotensin converting enzyme inhibitors...

Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects

Introduction: 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, in the Metropolitan Region of Salvador, Bahia, Brazil, to compare the accuracy of the dried blood spot in filter paper and venipuncture serological as screening methods for HIV, HTLV, VHB, VHC, Treponema pallidum, and Toxoplasma gondii during prenatal period. Results of the venous blood sample collected in tubes were considered the gold standard. Results: Serum samples and dried blood spot were obtained from 692 pregnant women aged between 14 and 42 years, with a median age of 26. Thirteen women were seropositive for T. gondii (1.88%; 95% CI: 0.60–2.71%), five for T. pallidum (0.72%; 95% CI: 0.15–1.61%), two for HBV (0.29%; 95% CI: 0.050.95%) and one for HTLV-1 (0.14%; 95% CI: 0.01–0.71%). No one was positive for HCV and HIV. The dried blood spot accuracy for syphilis and HTLV were 100% (95% CI: 99.25–100) and 100% (95% CI: 99.45–100%), respectively. The average time between blood collection and recording of the sample in the reference laboratory was 4.93 (3.82) days and between dried blood spot processing and active search for pregnant women was 3.44 (4.27) days. Conclusions: The use of dried blood spot may represent a secure way to expedite access to results of vertically transmitted diseases in the prenatal period, particularly in regions with scarce healthcare resources. .

Lesão renal aguda séptica versus não séptica em pacientes graves: características e desfechos clínicos / Septic versus non-septic acute kidney injury in critically ill patients: characteristics and clinical outcomes

Objetivo: 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 horas. Presença de sepse e óbito intra-hospitalar representaram, respectivamente, a exposição e o desfecho principal. Análise de confundimento foi realizada com a regressão logística. Resultados: Não houve diferenças na média de idade entre os grupos com lesão renal aguda séptica e não séptica [65,30±(21,27) anos versus 66,35±12,82 anos; p=0,75]. Nos dois grupos, similarmente, observou-se predomínio do sexo feminino (57,4% versus 52,4%; p=0,49) e de afrodescendentes (81,5% versus 76,2%; p=0,49). Os pacientes com sepse apresentaram maiores médias de escore Acute Physiology and Chronic Health Evaluation II [21,73±7,26 versus 15,75± (5,98; p<0,001)] e maiores médias de balanço hídrico (p=0,001). Hipertensão arterial (p=0,01) e insuficiência cardíaca (p<0,001) foram mais frequentes entre os não sépticos. A lesão renal aguda séptica foi associada à maior necessidade de diálise (p=0,001) ...

Objective: This study aimed to describe and compare the characteristics and clinical outcomes of patients with septic and non-septic acute kidney injury. Methods: This study evaluated an open cohort of 117 critically ill patients with acute kidney injury who were consecutively admitted to an intensive care unit, excluding patients with a history of advanced-stage chronic kidney disease, kidney transplantation, hospitalization or death in a period shorter than 24 hours. The presence of sepsis and in-hospital death were the exposure and primary variables in this study, respectively. A confounding analysis was performed using logistic regression. Results: No significant differences were found between the mean ages of the groups with septic and non-septic acute kidney injury [65.30±21.27 years versus 66.35±12.82 years, respectively; p=0.75]. In the septic and non-septic acute kidney injury groups, a predominance of females (57.4% versus 52.4%, respectively; p=0.49) and Afro-descendants (81.5% versus 76.2%, respectively; p=0.49) was observed. Compared with the non-septic patients, the patients with sepsis had a higher mean Acute Physiology and Chronic Health Evaluation II score [21.73±7.26 versus 15.75±5.98; p<0.001)] and a higher mean water balance (p=0.001). Arterial hypertension (p=0.01) and heart failure (p<0.001) were more common in the non-septic patients. Septic acute kidney injury was associated with a greater number of patients who required dialysis (p=0.001) and a ...

Lung function in the absence of respiratory symptoms in overweight children and adolescents / Função pulmonar de crianças e adolescentes sem sintomas respiratórios e com excesso de peso / Função pulmonar de crianças e adolescentes sem sintomas respiratórios e com excesso de peso

OBJECTIVE: To describe lung function findings in overweight children and adolescents without respiratory disease. METHODS: This was a cross-sectional study involving male and female overweight children and adolescents in the 8-18 year age bracket, without respiratory disease. All of the participants underwent anthropometric assessment, chest X-ray, pulse oximetry, spirometry, and lung volume measurements. Individuals with respiratory disease were excluded, as were those who were smokers, those with abnormal chest X-rays, and those with an SpO2 = 92%. Waist circumference was measured in centimeters. The body mass index-for-age Z score for boys and girls was used in order to classify the individuals as overweight, obese, or severely obese. Lung function variables were expressed in percentage of the predicted value and were correlated with the anthropometric indices. RESULTS: We included 59 individuals (30 males and 29 females). The mean age was 11.7 ± 2.7 years. Lung function was normal in 21 individuals (35.6%). Of the 38 remaining individuals, 19 (32.2%), 15 (25.4%), and 4 (6.7%) presented with obstructive, restrictive, and mixed ventilatory disorder, respectively. The bronchodilator response was positive in 15 individuals (25.4%), and TLC measurements revealed that all of the individuals with reduced VC had restrictive ventilatory disorder. There were significant negative correlations between the anthropometric indices and the Tiffeneau index in the individuals with mixed ventilatory disorder. CONCLUSIONS: Lung function was abnormal in approximately 65% of the individuals evaluated here, all of whom were overweight. Obstructive ventilatory disorder and positive bronchodilator response predominated. .

OBJETIVO: Descrever os achados de função pulmonar em crianças e adolescentes sem doenças respiratórias e com excesso de peso. MÉTODOS: Estudo transversal com crianças e adolescentes de 8 a 18 anos de ambos os sexos, com excesso de peso e sem doença respiratória, submetidos à avaliação antropométrica, radiografia de tórax, oximetria de pulso, espirometria e medidas de volume pulmonar. Indivíduos com patologias respiratórias, tabagistas ativos, radiografia anormal ou SpO2 = 92% foram excluídos do estudo. A circunferência da cintura foi medida em centímetros. O escore z para índice de massa corpórea/idade e sexo foi utilizado para classificar os indivíduos como com sobrepeso, obesos e obesos graves. As variáveis dos testes de função pulmonar foram expressas em percentual do previsto e correlacionadas com os índices antropométricos. RESULTADOS: Foram incluídos 59 indivíduos (30 meninos e 29 meninas). A média de idade foi de 11,7 ± 2,7 anos. Os resultados dos testes de função pulmonar foram normais em 21 indivíduos (35,6%). Dos 38 indivíduos restantes, 19 (32,2%), 15 (25,4%) e 4 (6,7%) apresentaram, respectivamente, distúrbio ventilatório obstrutivo, restritivo e misto. A resposta ao broncodilatador foi positiva em 15 indivíduos (25,4%), e a medida da CPT revelou que todos os indivíduos com CV reduzida apresentavam distúrbio ventilatório restritivo. Houve correlações negativas significantes entre os índices antropométricos e índice de Tiffeneau nos indivíduos com distúrbio ventilatório misto. CONCLUSÕES: A função pulmonar apresentou-se alterada em aproximadamente 65% dos indivíduos com sobrepeso aqui avaliados, predominando distúrbio ventilatório obstrutivo ...

Avaliação dos hábitos de higiene bucal em pacientes pediátricos obesos / Evaluation of oral hygiene habits in pediatric obese patients

Objetivo: Avaliar os hábitos de higiene bucal em pacientes pediátricos obesos. Métodos: Foi realizado estudo transversal no período de 2011 a 2012, a partir da avaliação de 180 crianças e adolescentes na faixa etária de 6 a 14 anos, de ambos os sexos, divididos em dois grupos (obesos e eutróficos), de acordo com a avaliação do índice de massa corporal. Para isso foi aplicado um formulário do tipo entrevista, considerando, além das características sociais, dados sobre os hábitos de higiene bucal, como a frequência de visitas ao dentista, frequência de escovação e uso do fio dental. Resultados: A análise dos dados demonstrou que 25 obesos (41,7%) e 87 eutróficos (72,5%) frequentaram o consultório odontológico há menos de um ano; 19 obesos (31,7%) e 62 eutróficos (51,7%) realizaram avaliação odontológica pelo menos uma vez ao ano; e 5 obesos (8,3%) e 50 eutróficos (41,7%) escovavam os dentes três vezes por dia, variáveis que apresentaram diferença significativa entre os grupos (p < 0,001). Apenas dois obesos (3,3%) e 23 eutróficos (19,2%) utilizaram o fio dental (p = 0,004) e 6 obesos (10%) e apenas 1 eutrófico (0,8%) utilizaram enxaguatório bucal (p = 0,003). Conclusões: Os hábitos de higiene bucal dos pacientes obesos são realizados com menor frequência, quando comparados aos eutróficos...

Triagem neonatal para fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias no recôncavo baiano: avaliação da cobertura em Cruz das Almas e Valença, Bahia, Brasil / Neonatal screening for phenylketonuria, congenital hypothyroidism and hemoglobinopathies: evaluation of cooverage in Cruz das Almas and Valença-Bahia, Brazil / Tamizaje neonatal para fenilcetonuria, hipotiroidismo congénito y hemoglobinopatías en el recóncavo baiano: evaluación de la cobertura en Cruz das Almas y Valença, Bahia, Brasil

O Programa de Triagem Neonatal (PTN) realizado pelo SUS na Bahia abrange o diagnóstico da fenilcetonúria (PKU), hipotireoidismo congênito (HC) e hemoglobinopatias, patologias que devem ser tratadas precocemente. O objetivo deste artigo é avaliar a cobertura do PTN e a incidência das doenças triadas em Cruz das Almas e Valença, Bahia. Trata-se de estudo descritivo de incidência das doenças triadas pelo Serviço de Referencia em Triagem Neonatal (SRTN)-APAE Salvador, com dados obtidos nos registros das Secretarias Municipais de Saúde (SMS) de Cruz das Almas e Valença, do Serviço de Referência em Tiragem Neonatal (SRTN) e do DATASUS, entre 2001 e 2009. Os resultados indicam que a cobertura observada foi crescente, alcançando 87,6% e 88,8%, respectivamente, em Valença e Cruz das Almas, em 2009. Nestes municípios, encontrou-se incidência de dois casos/1000 nascidos vivos(NV) para hemoglobinas variantes; 0,5 casos/1000NV para HC e nenhum caso de PKU, respectivamente. Incongruências quanto ao número de nativivos e amostras triadas pelo PTN foram observadas. Concluiu-se que houve aumento da cobertura do PTN, com incidência relevante de hemoglobinopatias nos municípios estudados. O sucesso da cobertura doprograma depende da adesão dos municípios, sendo necessária a implantação de um serviço de gestão dessas informações nas SMSs para planejamento de políticas de saúde pública.

The Neonatal Screening Program (NSP) in Brazil carried out by The Unique Health System (SUS) identifies the following congenital disorders: phenylketonuria, congenital hypothyroidism and hemoglobinapathies which should be treated in advance. The objective of this study is to evaluate the coverage of the neonatal Screening Program and the incidence of the identified disease by The Newborn Screening Reference Service at APAE-Salvador.The data were collected from registrations in The Municipal Department of health of Cruz das Almas e Valença, Newborn Screening Reference Service and DATASUS from 2001 to 2009. The results show that there was an increase in the coverage in Cruz das Almas (88.8%) and Valença (87.6%) respectively. In these two municipalities in Bahia it was found out an incidence of emoglobinapathies (two cases per 1000 live-births), three cases per 1000 congenital hypothyroidism and none of phenylketonuria. There were prominent inconsistencies in the registry of newborns and their blood samples as identified by the NSP. It can be concluded that there was an increase in the coverage of the NSP with relevant incidence of hemoglobinapathies in the municipalities studied. The success of the neonatal screening program in Cruz das Almas and Valença depends on the adherence of the municipalities. Therefore, it is necessary to implement a management service of information at the municipal Departments of health for planning public health policies.

El Programa de Tamizaje Neonatal (PTN) realizado por el SUS, en laBahia, abarca el diagnóstico de la fenilcetonuria (PKU), hipotiroidismo congénito (HC) y hemoglobinopatías, patologías que deben tratarse precozmente. El objetivo de este estudio es evaluar la cobertura del PTN y la incidencia de las enfermedades triadas en Cruz das Almas y Valença, Bahia. Estudio retrospectivo sobre la incidencia de enfermedades triadas por el Servicio de Referencia en Tamizaje Neonatal (SRTN) ? APAE, Salvador, con datos obtenidos en los registros de las Secretarías Municipales de Salud (SMS) de Cruz das Almas y Valença, del Servicio de Referencia en Tamizaje Neonatal (SRTN) y del DATASUS, entre los años de 2001 y 2009. Los resultados indican que la cobertura observada fue creciente alcanzando, en Valença y Cruz das Almas, 87,6% y 88,8%, respectivamente, durante el año de 2009. En estos municipios, se encontró, respectivamente, la incidencia de dos casos/1000 nacidos vivos(NV) de hemoglobinas variantes; 0,5 casos/1000 NV de HC y ningún caso de PKU. Fueron observadas incoherencias con relación al número de nacidos vivos y las muestras triadas por el PTN. Se concluye que, en los municipios investigados, hubo un aumento en la cobertura del PTN, con relevante incidencia de hemoglobinopatías. El suceso de la cobertura del programa depende de la adhesión de los municipios, siendo necesaria la implantación de un servicio de gestión de esas informaciones en las SMSs, para la planificación de políticas de salud pública.

Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia / Clinical and demographic aspects of phenylketonuria in Bahia State, Brazil

OBJETIVO:Descrever as características clínicas e demográficas dos pacientes com diagnóstico de hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal da Bahia. MÉTODOS: Estudo transversal de 99 famílias (111 afetados) com fenótipo bioquímico de hiperfenilalaninemia, com coleta de dados em prontuários e em banco de dados laboratorial, incluindo aspectos demográficos e clínicos. RESULTADOS: A incidência de hiperfenilalaninemia na Bahia foi de um caso a cada 16.334 nascidos vivos, com cobertura de 91 por cento. Dentre os pacientes acompanhados, 82 por cento foram diagnosticados pela triagem neonatal e, em 11 famílias, havia mais de um caso. O fenótipo clássico da fenilcetonúria foi diagnosticado em 63 (57 por cento) pacientes. Entre os triados, a mediana de idade na primeira consulta foi 39,5 dias e, deles, 34 por cento apresentavam sintomatologia nesse momento; nenhum com atraso no desenvolvimento neuropsicomotor. A consanguinidade foi descrita em 32 por cento dos casos e houve predomínio de pacientes classificados como brancos (63 por cento). Os pais tinham baixa escolaridade e baixa renda. Dos 417 municípios da Bahia, 15 por cento apresentavam pelo menos um caso, com concentração na região nordeste (10 por cento) e na capital do Estado (14 por cento). CONCLUSÕES: Os resultados evidenciaram idade tardia ao início do tratamento, o que pode comprometer os resultados do programa. Observou-se também presença de consanguinidade e recorrência familiar, reforçando a importância da investigação familiar para diagnosticar indivíduos com deficiência mental de etiologia não esclarecida que podem se beneficiar de tratamento.

OBJECTIVE:To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. METHOD:Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. RESULTS: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91 percent of them. Among patients followed, 82 percent were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57 percent) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34 percent had symptoms at the first medical consultation, none of them with delayed neurodevelopment. Consanguinity was reported in 32 percent of patients. Affected individuals were predominantly classified as white (63 percent). The parents had low education and low income. Among the 417 municipalities of Bahia, 15 percent had at least one case, with a concentration in the Northeast (10 percent) and in the capital of the State (14 percent). CONCLUSIONS: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.

Ocular lesions in sickle cell disease patients from Bahia, Brazil / Lesões oculares em pacientes com doença falciforme da Bahia, Brasil

OBJECTIVE: The present study aims to describe ocular alterations in sickle cell disease patients in Bahia, a Northeast state, with the highest prevalence of the disease in Brazil. METHODS: We carried out a cross-sectional study in a group of 146 (292 eyes) sickle cell disease patients (90 HBSS and 56 HBSC). Ophthalmologic examination including indirect binocular ophthalmoscopy was performed. Examination was completed by fluorescein angiography to detect retinal lesions. RESULTS: The most frequent ocular lesions identified were "vascular tortuosity" and "black sunburst". Proliferative retinopathy was found in 22 (12.2 percent) eyes of HBSS patients and 25 (22.3 percent) eyes of HBSC patients (OR=2.06; CI95 percent: 1.5-4.06, p=0.022); Its frequency was higher among HBSS patients aged 20-39 years, while in HBSC patients, it peaked after 40 years (35.7 percent and 42.8 percent) and dropped sharply afterwards. CONCLUSION: Proliferative retinopathy was described as early as 10 years of age in both patients groups. Proliferative sickle retinopathy can result in blindness and the knowledge of the most prevalent ocular alterations and age risk will be important to establish a protocol of ophthalmologic follow-up, in order to prevent a severe visual loss and increase patient's life quality.

OBJETIVO: O presente estudo teve como objetivo descrever as alterações oculares em pacientes portadores de doença falciforme, na Bahia, um estado do Nordeste, que tem a maior prevalência da doença no Brasil. MÉTODOS: Nós conduzimos um estudo de corte transversal em um grupo de 146 (292 olhos) pacientes com Doença Falciforme (90 HBSS e 56 HBSC). Para exame oftalmológico foi realizada oftalmoscopia binocular indireta complementada pela retinografia fluorescente para detecção de lesões retinianas decorrentes da Doença Falciforme. RESULTADOS: As lesões mais frequentemente encontradas foram o aumento da tortuosidade vascular e "black sumburst" Retinopatia proliferativa foi encontrada em 22 (12,2 por cento) olhos de pacientes HBSS e 25 (22,3 por cento) olhos de pacientes HBSC (OR=2.06; CI95 por cento: 1.5-4.06, p=0. 022); essa frequência foi maior entre os pacientes HBSS com idade entre 20 - 39 anos, enquanto que nos pacientes HBSC foi maior nos acima de 40 anos (35.7 por cento e 42.8 por cento), decaindo abruptamente após essa idade. CONCLUSÃO: Retinopatia proliferativa foi descrita por volta dos dez anos de idade em ambos os grupos. A prevalência da retinopatia falciforme proliferativa pode resultar em cegueira e o conhecimento das alterações oculares mais prevalentes e idade de risco destas em pacientes com Doença Falciforme será importante para estabelecer um protocolo de acompanhamento oftalmológico, para prevenir um dano visual clinicamente grave, aumentando a qualidade de vida destes pacientes.