Abstract Objective Advances in medicine have increased the life expectancy of pediatric patients with chronic illnesses, and challenges with the guided transition of adolescents and young adults from pediatric clinics to adult clinics have grown. The aim of this study was to better understand readiness and factors related to this transition process in Brazil. Method In this cross-sectional study of 308 patients aged from 16 to 21 years under follow-up in pediatric specialties, the degree of readiness for transition was assessed using the Transition Readiness Assessment Questionnaire (TRAQ) and its domains. Associations with demographic data, clinical data, socio-economic level, medication adherence, family functionality, and parental satisfaction with health care were evaluated. Results The median TRAQ score was 3.7 (3.2 - 4.2). Better readiness was associated with female patients, socio-economic class A-B, current active employment, higher level of education, not failing any school year, attending medical appointments alone, functional family, and a good knowledge of disease and medications. A low correlation was observed between TRAQ and age. TRAQ presented good internal consistency (alpha-Cronbach 0.86). In the multiple linear regression, TRAQ score showed a significant association with female gender, advanced age, socio-economic class A-B, better knowledge of disease and medications, and independence to attend appointments alone. Conclusion TRAQ instrument can guide healthcare professionals to identify specific areas of approach, in order to support adolescents with chronic disease to set goals for their own personal development and improve their readiness to enter into the adult healthcare system. In this study, some factors were related to better TRAQ scores.

Abstract Objective: The aim of this study was to identify clinical and complete blood count differences between pediatric hospitalized patients with sickle cell disease infected or not by SARS-CoV-2 and compare the complete blood count of patients with sickle cell disease infected by SARS-CoV-2 before hospitalization and on admission. Methods: This study was a single-center prospective cohort. Data were collected from medical records of pediatric inpatients with sickle cell disease under 18 years old infected or not with SARS-CoV-2 from the first visit to the hospital until discharge and from the last medical appointment. All patients were tested for SARS-CoV-2 by the real-time reverse transcription polymerase chain reaction. Results: Among 57 pediatric patients with sickle cell disease hospitalized from March to November 2020 in a Brazilian academic hospital, 11 (19.3%) had a positive result for SARS-CoV-2. Patients infected by SARS-CoV-2 had a higher prevalence of comorbidities than the ones who were not infected (63.6 vs. 30.4%; p=0.046). During hospital stay, no clinical or complete blood count differences between groups were found. There was a decrease in eosinophil count on hospital admission in patients with sickle cell disease infected by SARS-CoV-2 (p=0.008). Conclusions: Pediatric hospitalized patients with sickle cell disease infected by SARS-CoV-2 had more comorbidities and had a decrease in eosinophil count between hospital admission and the last medical appointment.

RESUMO Objetivo: Identificar diferenças clínicas e laboratoriais entre pacientes pediátricos hospitalizados com doença falciforme infectados ou não por SARS-CoV-2 e comparar o hemograma completo de pacientes com doença falciforme infectados por SARS-CoV-2 antes da hospitalização e durante a admissão. Métodos: Coorte prospectiva unicêntrica, cujos dados foram coletados em prontuários de pacientes pediátricos internados com doença falciforme, menores de 18 anos, infectados ou não com SARS-CoV-2, desde a primeira visita ao hospital até a alta e desde a última consulta médica. Todos os pacientes foram testados para SARS-CoV-2 pela transcrição reversa seguida de reação em cadeia da polimerase em tempo real. Resultados: Dos 57 pacientes pediátricos com doença falciforme internados de março a novembro de 2020 em um hospital universitário brasileiro, 11 (19,3%) apresentaram resultado positivo para SARS-CoV-2. Pacientes infectados pelo SARS-CoV-2 apresentaram maior prevalência de comorbidades do que aqueles não infectados (63,6 vs. 30,4%; p=0,046). Durante a internação hospitalar, não foram encontradas diferenças clínicas ou laboratoriais entre os grupos. Houve diminuição da contagem de eosinófilos na admissão hospitalar em pacientes com doença falciforme infectados pelo SARS-CoV-2 (p=0,008). Conclusões: Pacientes pediátricos hospitalizados com doença falciforme infectados pelo SARS-CoV-2 apresentaram mais comorbidades e diminuição da contagem de eosinófilos entre a admissão hospitalar e a última consulta médica.

Resumo Introdução: A nefropatia falciforme começa na infância e apresenta aumentos precoces na filtração glomerular, que, em longo prazo, podem levar à insuficiência renal crônica. Várias doenças têm aumentado a atividade da enzima conversora da angiotensina (ECA) urinária e circulante, mas há pouca informação sobre alterações na atividade das ECAs em crianças com doença falciforme (DF). Objetivo: Examinamos a atividade da ECA-1 circulante e urinária em crianças com DF. Métodos: Este estudo transversal comparou crianças que eram portadoras de DF com crianças que compunham um Grupo Controle (GC). As atividades séricas e urinárias da ECA foram avaliadas, assim como os fatores bioquímicos, a relação albumina/creatinina urinária e a taxa de filtração glomerular estimada. Resultados: A atividade urinária da ECA foi significativamente maior em pacientes com DF do que em crianças saudáveis (mediana 0,01; intervalo 0,00-0,07 vs mediana 0,00; intervalo 0,00-0,01 mU/mL·creatinina, p < 0,001. Não foi observada diferença significativa nas atividades séricas da ECA entre os grupos DF e GC (mediana 32,25; intervalo 16,2-59,3 vs mediana 40,9; intervalo 18,0-53,4) mU/mL·creatinina, p < 0,05. Conclusão: Nossos dados revelaram uma alta atividade urinária da ECA-1, diferente do nível plasmático, em pacientes com DF, sugerindo uma dissociação entre o Sistema Renina Angiotensina Aldosterona (SRAA) intra-renal e sistêmico. O aumento da atividade urinária da ECA-1 em pacientes com DF sugere níveis mais elevados de Ang II com predominância do eixo clássico do SRAA, que pode induzir lesão renal.

Abstract Introduction: Sickle cell nephropathy begins in childhood and presents early increases in glomerular filtration, which, over the long term, can lead to chronic renal failure. Several diseases have increased circulating and urinary angiotensin-converting enzyme (ACE) activity, but there is little information about changes in ACEs activity in children with sickle cell disease (SCD). Objective: We examined circulating and urinary ACE 1 activity in children with SCD. Methods: This cross-sectional study compared children who were carriers of SCD with children who comprised a control group (CG). Serum and urinary activities of ACE were evaluated, as were biochemical factors, urinary album/creatinine rates, and estimated glomerular filtration rate. Results: Urinary ACE activity was significantly higher in patients with SCD than in healthy children (median 0.01; range 0.00-0.07 vs median 0.00; range 0.00-0.01 mU/mL·creatinine, p < 0.001. No significant difference in serum ACE activities between the SCD and CG groups was observed (median 32.25; range 16.2-59.3 vs median 40.9; range 18.0-53.4) mU/m`L·creatinine, p < 0.05. Conclusion: Our data revealed a high urinary ACE 1 activity, different than plasmatic level, in SCD patients suggesting a dissociation between the intrarenal and systemic RAAS. The increase of urinary ACE 1 activity in SCD patients suggests higher levels of Ang II with a predominance of classical RAAS axis, that can induce kidney damage.

ABSTRACT Introduction: It is important to know if patients with hemoglobinopathy could be more susceptible to COVID-19. Objective: Analyze SARS-CoV-2 infection in pediatric patients with hemoglobinopathy. Methods: Using the online platforms LILACS, PUBMED and EMBASE, on 17- JUL-2020 a search was made for the terms COVID-19 and SARS-CoV-2 associated with "sickle cell", "thalassemia" and "hemoglobinopathy". Results: There were 623 pediatric and adult patients with sickle cell disease (SCD) or beta thalassemia (BT) and COVID-19. Total mortality rate was 6.42%. No pediatric patient with BT has been described. So, our analysis focused on children and adolescents with SCD: there were 121 pediatric patients, one adolescent died, prophylactic anticoagulation was prescribed to six patients, 11.76% needed intensive care unit, blood transfusion was prescribed in 29.70%. Vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) were the main clinical manifestations in SCD. Discussion: Pediatric patients with SCD and COVID-19 have a low mortality rate when compared to adults, although is higher than the global pediatric population with COVID-19 (0−0.67%). The comorbidities associated with age and the long-term complications inherent to hemoglobinopathies may contribute to the increased mortality outside the pediatric age group. In SCD the clinical manifestations, both in children and adults, are VOC and ACS, and there was increase in blood requirement. Pediatric SCD patients with COVID-19 need more intensive care unit than the global pediatric population (3.30%). Conclusion: Despite pediatric population with SCD needs more intensive care, the outcome after infection by COVID-19 is favorable.

RESUMO Objetivo: Avaliar aspectos sociodemográficos e clínicos de crianças com doença falciforme (DF) e suas características comportamentais. Métodos: Aplicação de entrevista sobre aspectos socioeconômicos e outras condições de saúde e do questionário de capacidades e dificuldades (SDQ) em pais de pacientes de quatro a dez anos com DF, em um ambulatório de referência. Dados clínicos foram obtidos dos prontuários médicos. Critérios de exclusão: uso de hidroxiureia, diagnóstico prévio de acidente vascular cerebral, encefalopatia crônica e/ou deficiência intelectual. Resultados: Analisados 45 pacientes (19 meninas e 26 meninos). Mediana de idade=7 anos. Diagnóstico da DF=26 hemoglobinopatia SC; 19 hemoglobinopatia SS. Classe econômica (SES): D=24,4%; C2=44,4%; C1=28,8%; B2=2,2%. Antecedentes clínicos: síndrome torácica aguda=40%; transfusões=66,7%; internações=82,2%. Achados SDQ=88,9% alteração clínica (subescala emocional=68,9%); pontuação total=alterada em 48,9%. Não foi possível estabelecer relação entre gravidade da doença e os resultados do SDQ. Com relação à SES, entre indivíduos das classes B2 e C1, 21,4% tiveram alteração na pontuação total; nas classes C2 e D, esse percentual foi de 61,3%. Quanto à escolaridade do chefe da família, com no mínimo ensino fundamental completo, 39,3% das crianças tiveram alteração; para menor escolaridade, esse percentual foi 64,7%. Conclusões: Alterações comportamentais são altamente prevalentes em crianças com DF. Indivíduos das classes C2 e D tiveram mais alterações comportamentais em relação aos indivíduos das classes B2 e C1.

ABSTRACT Objective: To evaluate sociodemographic and clinical aspects of children with sickle cell disease (SCD) and their behavioral characteristics. Methods: Interview with parents of patients with SCD from four to ten years old, addressing socioeconomic aspects and other health conditions, and using the Strengths and Difficulties Questionnaire (SDQ). Clinical data were obtained from medical records. Exclusion criteria were the use of hydroxyurea, previous diagnosis of stroke, chronic encephalopathy and/or intellectual disability. Results: 45 patients (19 girls and 26 boys) were assessed. The median age was seven years. Diagnosis of SCD: 26 hemoglobinopathy SC; 19 hemoglobinopathy SS. Socioeconomic class: D: 24.4%; C2: 44.4%; C1: 28.9%; B2: 2.2%. Clinical history: acute chest syndrome: 40%; transfusions: 66.7%; hospitalizations: 82.2%. SDQ findings: 88.9% clinical impact (emotional subscale: 68.9%); total score: impact in 48.9%. It was not possible to establish a relation between the severity of the disease and the results of the SDQ. Regarding socioeconomic class: among individuals of classes B2 and C1, 21.4% had impact at the total score; in classes C2 and D, this percentage was 61.3%. Regarding the schooling of the head of the family, with Elementary School at least, 39.3% of the children had impacts; for fewer education, this percentage was 64.7%. Conclusions: Behavioral impacts are highly prevalent in children with SCD. Individuals in socioeconomic classes C2 and D suffered more behavioral impacts than individuals in classes B2 and C1.

Abstract Introduction About 10% of sickle cell anemia patients will have ischemic stroke. Adams showed stroke incidence reduction in children receiving monthly erythrocyte transfusions by reducing transcranial Doppler (TCD) velocities. Since then, chronic transfusion is recommended as primary stroke prophylaxis. This study aims to assess the effectiveness of chronic transfusions as stroke prophylaxis. Method Retrospective study, reviewing medical records from 15 sickle cell anemia patients undergoing chronic transfusion. Data collected were age, sex, adverse reactions, stroke, hemoglobin, reticulocytes, ferritin, HbS and TCD values (baseline, after 12 and 24 months of treatment). Results The mean age was 118.67 ± 41.40 months; six patients experienced allergic reactions. No stroke was recorded. One patient had alloimmunization. There was a decrease in the HbS rate and an increase in hemoglobin values in the first 12 months. Values were maintained after 24 months, but with no improvement of data. Before treatment, the mean HbS rate was 75.18%±11.69; after 12 months, 41.63 ± 14.99 and after 24 months, 43.78 ± 10.6. Thirteen patients initiated chelation after 12 months from the beginning of chronic transfusions and ferritin decline after 24 months. Pre-transfusional TCD velocities were 204.28 ± 9.41 cm/s (right) and 198.85 ± 33.37 cm/s (left). After a 12-month treatment, these values were 158.5 ± 28.89 cm/s and 157.62 ± 34.43 cm/s, respectively, and this reduction was statistically significant (p = 0.002 right and p = 0.02 left). After 24 months, these values were 149.63 ± 26.95 cm/s (right) and 143.7 ± 32.27 cm/s (left). Conclusion Significant reduction of TCD velocity occurred after treatment with chronic transfusion in sickle cell anemia patients, leading to a normal or conditional test and reducing stroke risk in all but one patient.

RESUMO Objetivo: Descrever as características socioeconômicas e nutricionais de crianças e adolescentes com anemia falciforme. Fonte de dados: Estudo de revisão sistemática da literatura baseado em artigos publicados em revistas científicas. As buscas foram realizadas na base de dados eletrônica da National Library of Medicine, National Institutes of Health- PubMed.Foram realizadas duas buscas de artigos publicados nos últimos 20anos e sem limitação de idioma. Aprimeira partiu do Descritor em Ciências da Saúde “Anemia Falciforme” associado com “Fatores Socioeconômicos”; e a segunda partiu do descritor “Anemia Falciforme” associado com “Antropometria”. Asbuscas foram direcionadas para pesquisas realizadas em seres humanos na faixa etária de 0 a 18anos. Síntese dos dados: A seleção final foi composta por 11artigos referentes às características socioeconômicas e 21 referentes às características nutricionais. Asamostras estudadas foram de crianças e adolescentes de ambos os sexos, com idade de 0 a 18anos e com predomínio de populações negras. Famílias de crianças e adolescentes com anemia falciforme eram predominantemente de baixo nível socioeconômico. Ospais apresentaram níveis educacionais inferiores, quando comparados a pais de crianças e adolescentes saudáveis. Asmedidas corporais (peso e estatura) e os indicadores antropométricos de crianças com anemia falciforme foram frequentemente menores, quando comparados com os dos grupos saudáveis ou das populações de referência. Conclusão: Crianças e adolescentes com anemia falciforme apresentam limitações socioeconômicas e piores condições nutricionais, quando comparados às populações de referência. Essas limitações podem implicar pior crescimento e maior ocorrência de possíveis complicações, que podem prejudicar sua qualidade de vida.

ABSTRACT Objective: To describe the socioeconomic and nutritional characteristics of children and adolescents with sickle cell anemia. Data sources: The present study is a systematic literature review based on published scientific articles. The searches were carried out using the electronic database of the National Library of Medicine, National Institutes of Health- PubMed. Two searches of articles published in the last 20years and without limitation of language were carried out. Thefirst one started from the Medical Subject Headings term “Anemia, Sickle Cell” associated with “Socioeconomic Factors”; and the second started from the term “Anemia, Sickle Cell” associated with “Anthropometry”. Thesearches were directed to research conducted on humans in the age group from 0 to 18years. Data synthesis: The final selection was composed by 11 articles on socioeconomic characteristics and 21articles on nutritional characteristics. Allstudies included children and adolescents with sickle cells disease (age range 0-18years), both genders, and most of them of black ethnicity. Families of children and adolescents with sickle cell anemia were of predominantly low socioeconomic status. Parents had lower educational levels when compared to parents of healthy children and adolescents. Body measurements (weight and height) and anthropometric indicators of children with sickle cell anemia were often lower when compared to healthy groups or reference populations. Conclusions: Children and adolescents with sickle cell anemia have socioeconomic limitations and worse nutritional conditions, when compared to reference populations. These limitations may lead to worse growth and greater occurrence of possible complications that can impair their quality of life.

RESUMO Doppler transcraniano (DTC) é um componente estratégico da prevenção primária do acidente vascular cerebral (AVC) em crianças com doença falciforme (DF). Este estudo foi realizado para examinar as características do DTC de crianças com DF em nove centros médicos diferentes no Brasil. Métodos: DTC foi realizado de acordo com o protocolo de Stroke Prevention Trial in Sickle Cell Anemia Protocol (STOP). Resultados: Dos 396 pacientes avaliados, 69,5% eram homozigotos para hemoglobina SS. DTC foi anormal em 4,8%, condicional em 12,6%, inadequado em 5,3% e anormalmente baixo em 1%. As máximas velocidades de fluxo médio foram 121 ± 23,83cm/s e 124 ± 27,21 cm/s nas artérias cerebrais media esquerda e direita, respectivamente. Um total de 28,8% dos pacientes (média de 9,19 ± 5,92 anos) foram avaliados com o DTC pela primeira vez. Conclusões: Pacientes com DF foram avaliados com DTC numa idade considerada avançada, o que representa uma importante oportunidade perdida para a prevenção de AVC nessa população. Uma vez que a triagem com DTC em pacientes com DF é essencial para detectar aqueles com alto risco de AVC, recomenda-se que essa triagem seja amplamente disponível no país.

ABSTRACT Transcranial doppler (TCD) is a strategic component of primary stroke prevention in children with sickle cell disease (SCD). This study was conducted to examine the TCD characteristics of children with SCD in nine different medical centers in Brazil. Methods: Transcranial doppler was performed in accordance with the Stroke Prevention Trial in Sickle Cell Anemia Protocol. Results: Of the 396 patients, 69.5% had homozygous SS hemoglobin. The TCD result was abnormal in 4.8%, conditional in 12.6%, inadequate in 4.3% and abnormally low in 1% of patients. The highest mean flow velocities were 121±23.83cm/s and 124±27.21cm/s in the left and right middle cerebral artery respectively. A total of 28.8% patients (mean age 9.19±5.92 years) were evaluated with TCD for the first time. Conclusions: The SCD patients were evaluated with TCD at an older age, representing an important missed opportunity for stroke prevention. Since TCD screening in patients with SCD is important to detect those at high risk for stroke, it is recommended that this screening should be made more readily available.

Resumo Objetivo Avaliar a correlação entre os níveis de hemoglobina de mães e de seus filhos em aleitamento materno exclusivo, no primeiro semestre de vida. Métodos Estudo transversal com 221 binômios (mãe-filho) matriculados em programa de incentivo ao aleitamento materno, estratificados em seis grupos de acordo com a faixa etária das crianças. A amostra consistiu de crianças nascidas a termo, com peso normal, sem intercorrências neonatais e cujas mães não apresentavam doença infecciosa e anemia na época da coleta de dados. Foram feitas entrevistas com as mães, coleta de sangue por punção de veia periférica das mães e das crianças e antropometria das crianças. Foram calculados os coeficientes de correlação de Pearson entre os níveis de hemoglobina das mães e das crianças. Foram ajustados seis modelos de regressão linear múltiplos com estimativas de coeficientes de regressão, consideraram-se estatisticamente significantes associações com p ≤ 0,05. Resultados Os coeficientes de correlação dos níveis de hemoglobina das mães e das crianças variaram entre 0,253, aos três meses, e 0,601, aos cinco meses. O nível de hemoglobina das mães esteve mais correlacionado com o das crianças aos quatro meses (r = 0,578) e aos cinco meses (r = 0,601). Na regressão linear múltipla ajustada, os coeficientes de regressão foram maiores aos quatro meses (β = 1,134; p = 0,002) e aos cinco meses (β = 0,845; p < 0,001). Conclusão Esses achados permitem concluir que há correlação entre a hemoglobina de mães e a hemoglobina de seus filhos em aleitamento materno exclusivo no primeiro semestre de vida.

Abstract Objective: To evaluate the correlation between hemoglobin levels of mothers and their children on exclusive breastfeeding in the first six months of life. Methods: Cross-sectional study with 221 binomials (mother-child) enrolled in a breastfeeding support program, who were stratified into six groups according to the children's age group. The sample consisted of children born at term with normal weight, with no neonatal complications and whose mothers did not have anemia or infectious disease at the time of data collection. Interviews were carried out with the mothers, blood was collected by peripheral venipuncture from mothers and children, and children's anthropometric data were assessed. Pearson's correlation coefficients between the hemoglobin levels of mothers and children were calculated. Six multiple linear regression models were adjusted with regression coefficient estimates, considering as statistically significant associations with p ≤ 0.05. Results: The correlation coefficients of hemoglobin levels of mothers and children ranged from 0.253, at three months, to 0.601, at five months. The hemoglobin level of mothers was correlated with the hemoglobin level of their children at four months (r = 0.578) and at five months (r = 0.601). In the adjusted multiple linear regression, the regression coefficients were higher at four months (β = 1.134; p = 0.002) and at five months (β = 0.845; p < 0.001). Conclusion: These findings allow for the conclusion that there is a correlation between the hemoglobin of mothers and the hemoglobin of their children on exclusive breastfeeding in the first six months of life.

OBJETIVO: Avaliar a frequência de complicações infecciosas em pacientes portadores de doença falciforme (DF) submetidos à esplenectomia cirúrgica, após episódio de sequestro esplênico (SE). MÉTODOS: Coorte retrospectiva de crianças com DF que nasceram após 2002 e que estavam em acompanhamento regular até julho de 2013. Os pacientes foram divididos em dois grupos, casos (constituído pelas crianças com DF que fizeram esplenectomia cirúrgica após sequestro esplênico) e controles (crianças com DF que não tiveram SE e não foram submetidas ao procedimento), a fim de comparar a frequência de infecções invasivas (sepse, meningite, bacteremia com hemocultura positiva, síndrome torácica aguda e/ou pneumonia) por meio de informações obtidas do prontuário. A análise estatística foi descritiva. RESULTADOS: Foram avaliados 44 pacientes com idade média no momento da esplenectomia de 2,6 anos (1-6,9 anos) e com tempo médio de seguimento após esplenectomia de 6,1 anos (3,8-9,9 anos). O grupo controle foi formado por 69 pacientes com idade média do início do seguimento de 5,6 meses (1-49 meses) e tempo de acompanhamento médio de 7,2 anos (4-10,3 anos). Todos receberam a vacina pneumocócica conjugada. Não foi observada diferença significativa entre os grupos em relação aos processos infecciosos durante o período de seguimento. CONCLUSÕES: A esplenectomia cirúrgica nas crianças com doença falciforme e que sofreram sequestro esplênico não se associou ao aumento na frequência de complicações infecciosas após seis anos de acompanhamento clínico.

OBJECTIVE: To evaluate the frequency of infectious complications in children with sickle cell disease (SCD) after surgical splenectomy for acute splenic sequestration crisis. METHODS: Retrospective cohort of children with SCD who were born after 2002 and were regularly monitored until July 2013. Patients were divided into two groups: cases (children with SCD who underwent surgical splenectomy after an episode of splenic sequestration) and controls (children with SCD who did not have splenic sequestration and surgical procedures), in order to compare the frequency of invasive infections (sepsis, meningitis, bacteremia with positive blood cultures, acute chest syndrome and/or pneumonia) by data collected from medical records. Data were analyzed by descriptive statistical analysis. RESULTS: 44 patients were included in the case group. The mean age at the time of splenectomy was 2.6 years (1-6.9 years) and the mean postoperative length of follow-up was 6.1 years (3.8-9.9 years). The control group consisted of 69 patients with a mean age at the initial follow-up visit of 5.6 months (1-49 months) and a mean length of follow-up of 7.2 years (4-10.3 years).All children received pneumococcal conjugate vaccine. No significant difference was observed between groups in relation to infections during the follow-up. CONCLUSIONS: Surgical splenectomy in children with sickle cell disease that had splenic sequestration did not affect the frequency of infectious complications during 6 years of clinical follow-up.