Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome

ABSTRACT Objective: This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Materials and methods: Observational, analytical, and cross-sectional study. The SF-36 was applied along with an additional questionnaire regarding specific characteristics of TS. Results: There were no differences in quality of life (QoL) in TS women regarding median height and appropriate height according to parental target height, however, participants satisfied and who did not desire to change their height had better scores in the mental health and role emotional domains than those not satisfied and desired to change it. When comparing participants who were or were not bothered by physical appearance, the results showed that those not bothered by physical appearance had a better score in the vitality and social function domains. Considering patients who did or did not desire to change physical appearance, those who did not want to change their physical appearance had higher scores in the mental component and in the social function and mental health domains of the SF-36. Conclusion: This study indicated that anthropometric factors and physical appearance may possibly be associated to QoL in TS, and also emphasizes the need to develop and validate an official questionnaire regarding specific TS characteristics in order to assess in more detail how specific characteristics of TS interfere with their QoL.

Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?

OBJECTIVE: To determine whether abnormal continuous glucose monitoring (CGM) readings (hypoglycemia/hyperglycemia) can predict the onset of cystic fibrosis-related diabetes (CFRD) and/or clinical impairment (decline in BMI and/or FEV1) in pediatric patients with cystic fibrosis (CF). METHODS: This was a longitudinal prospective cohort study involving CF patients without diabetes at baseline. The mean follow-up period was 3.1 years. The patients underwent 3-day CGM, performed oral glucose tolerance test (OGTT), and had FEV1 and BMI determined at baseline. OGTT, FEV1, and BMI were reassessed at the end of the follow-up period. RESULTS: Thirty-nine CF patients (10-19 years of age) had valid CGM readings at baseline, and 34 completed the follow-up period (mean = 3.1 ± 0.5 years). None of the study variables predicted progression to CFRD or were associated with hypoglycemic events. CGM could detect glucose abnormalities not revealed by OGTT. Patients with glucose levels ≥ 140 mg/dL, as compared with those with lower levels, on CGM showed lower BMI values and z-scores at baseline-17.30 ± 3.91 kg/m2 vs. 19.42 ± 2.07 kg/m2; p = 0.043; and -1.55 ± 1.68 vs. -0.17 ± 0.88; p = 0.02, respectively-and at the end of follow-up-17.88 ± 3.63 kg/m2 vs. 19.95 ± 2.56 kg/m2; p = 0.039; and -1.65 ± 1.55 vs. -0.42 ± 1.08; p = 0.039. When comparing patients with and without CFRD, the former were found to have worse FEV1 (in % of predicted)-22.67 ± 5.03 vs. 59.58 ± 28.92; p = 0.041-and a greater decline in FEV1 (-36.00 ± 23.52 vs. -8.13 ± 17.18; p = 0.041) at the end of follow-up. CONCLUSIONS: CGM was able to identify glucose abnormalities not detected by OGTT that were related to early-stage decreases in BMI. CGM was ineffective in predicting the onset of diabetes in this CF population. Different diagnostic criteria for diabetes may be required for individuals with CF.

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study

Abstract BACKGROUND: Because normal male sexual differentiation is more complex than normal female sexual differentiation, there are more cases of disorders of sex development (DSDs) with 46,XY karyotype that have unclear etiology. However, Leydig and Sertoli cell markers are rarely used in distinguishing such individuals. OBJECTIVES: To evaluate the function of Leydig and Sertoli cells in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion. STUDY DESIGN AND SETTING: Case-control study with 77 patients, including eight with partial androgen insensitivity syndrome, eight with 5α-reductase deficiency type 2 (5ARD2) and 19 with idiopathic 46,XY DSD, and 42 healthy controls, from the Interdisciplinary Study Group for Sex Determination and Differentiation (GIEDDS), at the State University of Campinas (UNICAMP), Campinas, Brazil. METHODS: Baseline levels of gonadotropins, anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), testosterone and dihydrotestosterone in cases, and AMH, inhibin B, and INSL3 levels in controls, were assessed. RESULTS: There was no significant difference in age between cases and controls (P = 0.595). AMH and inhibin B levels were significantly lower in cases than in controls (P = 0.031 and P < 0.001, respectively). INSL3 levels were significantly higher in cases than in controls (P = 0.003). Inhibin B levels were lower in 5ARD2 patients (P = 0.045) and idiopathic patients (P = 0.001), in separate comparisons with the controls. CONCLUSION: According to our findings, we can speculate that inhibin B levels may be used to differentiate among DSD cases.

Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome? / O monitoramento contínuo da glicose pode prever diabetes relacionado à fibrose cística e pior desfecho clínico?

ABSTRACT Objective: To determine whether abnormal continuous glucose monitoring (CGM) readings (hypoglycemia/hyperglycemia) can predict the onset of cystic fibrosis-related diabetes (CFRD) and/or clinical impairment (decline in BMI and/or FEV1) in pediatric patients with cystic fibrosis (CF). Methods: This was a longitudinal prospective cohort study involving CF patients without diabetes at baseline. The mean follow-up period was 3.1 years. The patients underwent 3-day CGM, performed oral glucose tolerance test (OGTT), and had FEV1 and BMI determined at baseline. OGTT, FEV1, and BMI were reassessed at the end of the follow-up period. Results: Thirty-nine CF patients (10-19 years of age) had valid CGM readings at baseline, and 34 completed the follow-up period (mean = 3.1 ± 0.5 years). None of the study variables predicted progression to CFRD or were associated with hypoglycemic events. CGM could detect glucose abnormalities not revealed by OGTT. Patients with glucose levels ≥ 140 mg/dL, as compared with those with lower levels, on CGM showed lower BMI values and z-scores at baseline-17.30 ± 3.91 kg/m2 vs. 19.42 ± 2.07 kg/m2; p = 0.043; and −1.55 ± 1.68 vs. −0.17 ± 0.88; p = 0.02, respectively-and at the end of follow-up-17.88 ± 3.63 kg/m2 vs. 19.95 ± 2.56 kg/m2; p = 0.039; and −1.65 ± 1.55 vs. −0.42 ± 1.08; p = 0.039. When comparing patients with and without CFRD, the former were found to have worse FEV1 (in % of predicted)-22.67 ± 5.03 vs. 59.58 ± 28.92; p = 0.041-and a greater decline in FEV1 (−36.00 ± 23.52 vs. −8.13 ± 17.18; p = 0.041) at the end of follow-up. Conclusions: CGM was able to identify glucose abnormalities not detected by OGTT that were related to early-stage decreases in BMI. CGM was ineffective in predicting the onset of diabetes in this CF population. Different diagnostic criteria for diabetes may be required for individuals with CF.

RESUMO Objetivo: Verificar se leituras de continuous glucose monitoring (CGM, monitoramento contínuo da glicose) anormais (hipoglicemia/hiperglicemia) podem prever o aparecimento de diabetes relacionado à fibrose cística (DRFC) e/ou comprometimento clínico (declínio do IMC e/ou do VEF1) em pacientes pediátricos com fibrose cística (FC). Métodos: Estudo de coorte longitudinal prospectivo envolvendo pacientes com FC sem diabetes no início do estudo. O tempo médio de acompanhamento foi de 3,1 anos. Os pacientes foram submetidos a CGM de três dias, teste oral de tolerância à glicose (TOTG) e medida de VEF1 e IMC no início do estudo. TOTG, VEF1 e IMC foram reavaliados ao final do acompanhamento. Resultados: Trinta e nove pacientes com FC (10-19 anos de idade) apresentaram leituras de CGM válidas no início do estudo, e 34 completaram o acompanhamento (média = 3,1 ± 0,5 anos). Nenhuma das variáveis estudadas previu evolução para DRFC ou apresentou associação com eventos hipoglicêmicos. O CGM conseguiu detectar anormalidades glicêmicas não reveladas pelo TOTG. Pacientes com níveis de glicose ≥ 140 mg/dL no CGM, comparados àqueles com níveis menores, apresentaram valores de IMC e escores z de IMC menores no início do estudo - 17,30 ± 3,91 kg/m2 vs. 19,42 ± 2,07 kg/m2; p = 0,043; e −1,55 ± 1,68 vs. −0,17 ± 0,88; p = 0,02, respectivamente - e no final do acompanhamento - 17,88 ± 3,63 kg/m2 vs. 19,95 ± 2,56 kg/m2; p = 0,039; e −1,65 ± 1,55 vs. −0,42 ± 1,08; p = 0,039. Na comparação dos pacientes com e sem DRFC, os primeiros apresentaram pior VEF1 (em % do previsto) - 22,67 ± 5,03 vs. 59,58 ± 28,92; p = 0,041 - e maior declínio do VEF1 (−36,00 ± 23,52 vs. −8,13 ± 17,18; p = 0,041) no final do acompanhamento. Conclusões: O CGM foi capaz de identificar anormalidades glicêmicas não detectadas pelo TOTG que se relacionaram com reduções precoces do IMC. O CGM foi ineficaz na previsão do aparecimento de diabetes nesta população com FC. Diferentes critérios diagnósticos para diabetes podem ser necessários para indivíduos com FC.

Standard reference and percentiles of maximum respiratory pressures values of healthy children aged 7-10 years / Distribuição padrão e percentuais dos valores de pressão respiratória máxima de crianças saudáveis de 7 a 10 anos de idade

Abstract Objective: This study aims to present standard reference for values of maximum respiratory pressures of healthy schoolchildren, according to gender. Methods: This is a cross-sectional study involving healthy children aged 7-10 years. Data of body mass and height were evaluated to calculate body mass index (BMI). In addition, forced expiratory volume in 1 second (FEV1) and maximal expiratory pressure values were evaluated according to the American Thoracic Society. The maximal inspiratory pressure (MIP) and data of maximal expiratory pressure (MEP) obtained in the study showed normal distribution and curves were built by the Lambda-Mu-Sigma (LMS) method, as well as the values of MIP and MEP percentiles 3, 10, 25, 50, 75, 90, and 97 for each gender. Results: MIP and MEP data were collected from 399 schoolchildren. All schoolchildren in the sample had adequate FEV1 and BMI. The study showed an increase in respiratory pressure values with age progression. The MIP and MEP values of girls were of 53.4±11.0 and 61.8±12.5cmH2O, respectively, and those of boys were 59.9±13.6 and 69.6±15.7cmH2O, respectively. Conclusions: Normal curves and percentiles were developed for MIP and MEP values of healthy schoolchildren. The extreme percentiles (3rd and 97th) were determined, and a specific graph was elaborated for each group. These graphs may help clinical follow-up and therapeutic monitoring of different pediatric populations.

Resumo Objetivo: Apresentar distribuição normal para os valores das pressões respiratórias máximas de escolares saudáveis, de acordo com o gênero. Métodos: Estudo transversal envolvendo crianças saudáveis de 7 a 10 anos. Foram avaliados os dados de massa corporal e estatura, para o cálculo do índice de massa corporal (IMC). Os valores de volume expiratório forçado no primeiro segundo (VEF1) e pressão expiratória máxima foram avaliados de acordo com a American Thoracic Society. Os dados de pressão inspiratória máxima (PImáx) e pressão expiratória máxima (PEmáx) obtidos no estudo deram origem à distribuição normal, cuja construção foi elaborada pelo método the Lambda-Mu-Sigma (LMS), bem como os percentis 3, 10, 25, 50, 75, 90 e 97 de PImáx e PImáx de cada sexo. Resultados: Os dados de PImáx e PImáx foram coletados de 399 escolares. Todos os escolares da amostra apresentavam VEF1 e índice de massa corporal adequados. O estudo mostrou aumento dos valores de pressão respiratória com o avançar da idade. Os valores de PImáx e PImáx das meninas foram de 53,49±11,07 e 61,80±12,51cmH2O, respectivamente; e os meninos de 59,96±13,66 e 69,68±15,72 cmH2O, respectivamente. Conclusões: Foram desenvolvidas curvas e percentis normais para os valores de PImáx e PImáx de escolares saudáveis o que poderia auxiliar no acompanhamento clínico e terapêutico de diferentes populações pediátricas.

The bone densitometry is normal in Turner syndrome prepubertal patients after height age correction / A densitometria óssea é normal em pacientes pré-púberes com síndrome de turner quando corrigida pela idade estatura

Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone densitometry (BD), height, body mass index (BMI) and BD result. The result of the BD was corrected using HA. BMI and BD were calculated on Z score for chronological age (CA) and for HA. Results: thirty-seven prepubertal patients were selected and after exclusion criteria, 13 cases between 10 and 13 years old were included in the study. The BD for HA was significantly higher than for CA (0.39 ± 1.18 x −1.62 ± 1.32), without karyotype (p=0.369) and BMI (p=0.697) influence. Conclusion: prepubertal TS patients present normal BD when corrected for HA, without influence of karyotype and BMI.

Resumo Objetivos: avaliar a massa óssea de pacientes pré-púberes com Síndrome de Turner (ST) de acordo com a idade estatura (IE) e verificar a influência do cariótipo e da adiposidade. Métodos: estudo retrospectivo e analítico de pacientes pré-púberes com ST. As variáveis analisadas foram: cariótipo, idade na realização da densitometria óssea (DO); estatura, índice de massa corporal (IMC) e resultado da DO. Realizou-se a correção do resultado da DO utilizando a IE. O IMC e a DO foram calculados em Z score para idade cronológica (IC) e para IE. Resultados: foram selecionadas 37 pacientes pré-púberes e após critério de exclusão foram incluídas no estudo 13 casos entre 10 e 13 anos de idade. A DO para IE foi significativamente maior que para IC (0,39 ± 1,18 × −1,62 ± 1,32), sem influência do cariótipo (p=0,369) e do IMC (p=0,697). Conclusão: pacientes pré-púberes com ST apresentam DO normal quando corrigida para IE, sem influência do cariótipo e do IMC.

Risk factors for recurrent wheezing in preterm infants who received prophylaxis with palivizumab.

OBJECTIVE: To determine the prevalence of recurrent wheezing (RW) in preterm infants who received prophylaxis against severe infection with respiratory syncytial virus (RSV) and to identify genetic susceptibility (atopy or asthma) and risk factors for RW. METHODS: This was a cross-sectional study involving preterm infants who received prophylaxis with palivizumab at a referral center in Brazil during the first two years of age. A structured questionnaire was administered in a face-to-face interview with parents or legal guardians. RESULTS: The study included 410 preterm infants (median age = 9 months [0-24 months]). In the sample as a whole, 111 children (27.1%; [95% CI, 22.9-31.5]) had RW. The univariate analysis between the groups with and without RW showed no differences regarding the following variables: sex, ethnicity, maternal level of education, gestational age, birth weight, breastfeeding, number of children in the household, day care center attendance, pets in the household, and smoking caregiver. The prevalence of RW was twice as high among children with bronchopulmonary dysplasia (adjusted OR = 2.08; 95% CI, 1.11-3.89; p = 0.022) and almost five times as high among those with a personal/family history of atopy (adjusted OR = 4.96; 95% CI, 2.62-9.39; p < 0.001) as among those without these conditions. CONCLUSIONS: Preterm infants who received prophylaxis with palivizumab but have a personal/family history of atopy or bronchopulmonary dysplasia are more likely to have RW than do those without these conditions.

Risk factors for recurrent wheezing in preterm infants who received prophylaxis with palivizumab / Fatores de risco para sibilância recorrente em crianças pré-termo que receberam profilaxia com palivizumabe

ABSTRACT Objective: To determine the prevalence of recurrent wheezing (RW) in preterm infants who received prophylaxis against severe infection with respiratory syncytial virus (RSV) and to identify genetic susceptibility (atopy or asthma) and risk factors for RW. Methods: This was a cross-sectional study involving preterm infants who received prophylaxis with palivizumab at a referral center in Brazil during the first two years of age. A structured questionnaire was administered in a face-to-face interview with parents or legal guardians. Results: The study included 410 preterm infants (median age = 9 months [0-24 months]). In the sample as a whole, 111 children (27.1%; [95% CI, 22.9-31.5]) had RW. The univariate analysis between the groups with and without RW showed no differences regarding the following variables: sex, ethnicity, maternal level of education, gestational age, birth weight, breastfeeding, number of children in the household, day care center attendance, pets in the household, and smoking caregiver. The prevalence of RW was twice as high among children with bronchopulmonary dysplasia (adjusted OR = 2.08; 95% CI, 1.11-3.89; p = 0.022) and almost five times as high among those with a personal/family history of atopy (adjusted OR = 4.96; 95% CI, 2.62-9.39; p < 0.001) as among those without these conditions. Conclusions: Preterm infants who received prophylaxis with palivizumab but have a personal/family history of atopy or bronchopulmonary dysplasia are more likely to have RW than do those without these conditions.

RESUMO Objetivo: Determinar a prevalência de sibilância recorrente (SR) em crianças pré-termo que receberam profilaxia contra infecção grave pelo vírus sincicial respiratório (VSR) e identificar susceptibilidade genética (atopia ou asma) e fatores de risco para SR. Métodos: Estudo transversal envolvendo crianças pré-termo que receberam profilaxia com palivizumabe em um centro de referência no Brasil durante os primeiros dois anos de vida. Um questionário estruturado foi aplicado em entrevista presencial com os pais ou responsáveis. Resultados: O estudo incluiu 410 crianças pré-termo (mediana de idade = 9 meses [0-24 meses]). Na amostra total, 111 crianças (27,1%; IC95%: 22,9-31,5) apresentavam SR. A análise univariada entre os grupos com e sem SR não mostrou diferenças em relação às seguintes variáveis: sexo, etnia, escolaridade materna, idade gestacional, peso ao nascer, aleitamento materno, número de crianças no domicílio, frequência em creche, presença de animais de estimação no domicílio e cuidador tabagista. A prevalência de SR foi duas vezes maior entre crianças com displasia broncopulmonar (OR ajustada = 2,08; IC95%: 1,11-3,89; p = 0,022) e quase cinco vezes maior entre aquelas com história pessoal/familiar de atopia (OR ajustada = 4,96; IC95%: 2,62-9,39; p < 0,001) do que entre aquelas sem essas condições. Conclusões: Crianças pré-termo que receberam profilaxia com palivizumabe, mas apresentam história pessoal/familiar de atopia ou displasia broncopulmonar, têm maior probabilidade de apresentar SR do que aquelas sem essas condições.

Avaliação do controle da asma entre diferentes medidas e avaliação da capacidade de exercício funcional em crianças e adolescentes com asma / Assessment of asthma control among different measures and evaluation of functional exercise capacity in children and adolescents with asthma

RESUMO Objetivo Avaliar a concordância entre as medidas de controle da asma e a capacidade de exercício funcional em crianças e adolescentes com asma não controlada e controlada. Métodos Selecionamos crianças e adolescentes com asma de 7 a 17 anos, que foram atendidos no Ambulatório de Pneumologia Pediátrica da Universidade Estadual de Campinas. Todos os pacientes tiveram nível de controle da asma avaliado pelo questionário da Global Initiative for Asthma (GINAq), Teste de Controle da Asma (TCA), espirometria e teste de caminhada de seis minutos (TC6M). Os pacientes foram classificados como asma não controlada ou controlada em cada teste e a concordância entre as medidas foi avaliada pelas estatísticas do Kappa. A curva ROC foi calculada para o TC6M. O índice espirométrico da espirometria foi composto por FEV1, FEV1/FVC e FEF25-75%. Os resultados da espirometria e do TC6M foram comparados entre o grupo de asma não controlada e controlada pela GINAq. Resultados Dos 138 sujeitos incluídos, 78 (56,5%) eram do sexo masculino com idade média de 11,00 (7-17) anos. O GINAq detectou 68,8% dos pacientes com asma não controlada. Foi observada concordância moderada (p<0,001; k=0,56) e alta especificidade (100%) entre o GINAq e o TCA. No TC6M, o ponto de corte de 82,03% da distância prevista possibilitou a distinção de pacientes com asma controlada e não controlada. O índice espirométrico apresentou 73,4% de sensibilidade com o GINAq. Foram observados resultados piores no TC6M em pacientes com asma não controlada. Conclusões Este estudo destaca a importância de avaliar mais de uma medida para diferenciar o nível de controle da asma. O GINAq identificou mais pacientes com asma não controlada e apresentou concordância moderada com o TCA. O índice espirométrico foi associado à asma não controlada de acordo com o GINAq. O TC6M foi uma boa medida para distinguir pacientes com asma controlada e não controlada.

ABSTRACT Objective To assess the agreement among asthma control measures and functional exercise capacity in children and adolescents with uncontrolled and controlled asthma. Methods Children and adolescents with asthma from 7-17 years old were selected, and they were attended in the "Pediatric Pulmonology Outpatient Clinic of State University of Campinas", in Brazil. All patients had asthma control level assessed by Global Initiative for Asthma questionnaire (GINAq), Asthma Control Test (ACT), spirometry and six-minute-walk-test (6MWT). Patients were classified as uncontrolled or controlled asthma in each test and agreement among measures was assessed by kappa statistics. The ROC curve was calculated for the 6MWT. The spirometric index obtained from spirometry was composed by FEV1, FEV1/FVC and FEF25-75%. Spirometry and 6MWT results were compared between uncontrolled and controlled asthma group by GINAq. Results Of the 138 subjects included, 78 (56.5%) were male with median age of 11 (7-17) years old. GINAq detected 68.8% of patients with uncontrolled asthma. Moderate agreement (p < 0.001; k = 0.56) and high specificity (100%) was observed between GINAq and ACT. In 6MWT, the cut-off point of 82.03% of predicted distance was able to distinguish patients with controlled and uncontrolled asthma. Spirometric index presented 73.4% of sensitivity according to GINAq. The results for 6MWT in patients with uncontrolled asthma were the worst of all. Conclusion This study highlights the importance of assessing more than one measure to differentiate asthma control level. GINAq identified more patients with uncontrolled asthma and presented moderate agreement with ACT. Spirometric index was associated with uncontrolled asthma according to GINAq. 6MWT was a suitable measure to distinguish patients with controlled and uncontrolled asthma.

Recurrent wheezing in preterm infants: Prevalence and risk factors / Sibilância recorrente em prematuros: prevalência e fatores de risco

ABSTRACT Objective: To evaluate the prevalence and risk factors associated with progression to recurrent wheezing in preterm infants. Methods: The cross-sectional study was carried out in 2014 and 2015 and analyzed preterm infants born between 2011 and 2012. The search for these children was performed in a university maternity hospital and a Special Immunobiological Reference Center. The evaluation was performed through a questionnaire applied during a telephone interview. Results: The study included 445 children aged 39 (18-54) months. In the univariate analysis, the risk factors with the greatest chance of recurrent wheezing were birth weight <1000 g, gestational age <28 weeks, living with two or more siblings, food allergy, and atopic dermatitis in the child, as well as food allergy and asthma in the parents. In the multivariate analysis, there was a significant association between recurrent wheezing and gestational age at birth <28 weeks, food allergy and atopic dermatitis in the child, and living with two or more children. Of the 445 analyzed subjects, 194 received passive immunization against the respiratory syncytial virus, and 251 preterm infants were not immunized. There was a difference between the gestational age of these subgroups (p < 0.001). The overall prevalence of recurrent wheezing was 27.4% (95% CI: 23.42-31.70), whereas in the children who received passive immunization it was 36.1% (95% CI: 29.55-43.03). Conclusions: Personal history of atopy, lower gestational age, and living with two or more children had a significant association with recurrent wheezing. Children with lower gestational age who received passive immunization against the respiratory syncytial virus had a higher prevalence of recurrent wheezing than the group with higher gestational age.

RESUMO Objetivo: Avaliar a prevalência e os fatores de risco associados à evolução para sibilância recorrente em prematuros. Métodos: O estudo transversal foi feito em 2014 e 2015 e analisou crianças prematuras nascidas entre 2011 e 2012. A busca dessas crianças foi feita em maternidade de hospital universitário e em um Centro de Referência para Imunobiológicos Especiais. A avaliação foi feita por questionário dirigido em entrevista telefônica. Resultados: O estudo incluiu 445 crianças com 39 (18-54) meses de vida. Na análise univariada, os fatores de risco com maior chance de sibilância recorrente foram peso de nascimento menor do que 1.000 g, idade gestacional menor do que 28 semanas, convivência com dois ou mais irmãos, alergia alimentar e dermatite atópica na criança e alergia alimentar e asma nos pais. Na análise multivariada houve associação significativa entre sibilância recorrente e idade gestacional ao nascer menor do que 28 semanas, alergia alimentar e dermatite atópica na criança e a convivência com duas ou mais crianças. Dos 445 sujeitos analisados, 194 receberam imunização passiva contra vírus sincicial respiratório e 251 eram prematuros não imunizados. Houve diferença entre a idade gestacional desses subgrupos (p < 0,001). A prevalência geral de sibilância recorrente foi 27,4% (IC 95%: 23,42-31,70) e nas crianças que receberam a imunização passiva foi 36,1% (IC 95%: 29,55-43,03). Conclusões: História pessoal de atopia, menor idade gestacional e convivência com duas ou mais crianças apresentaram associação significativa com sibilância recorrente. As crianças com menor idade gestacional, que receberam a imunização passiva contra o vírus sincicial respiratório, apresentaram maior prevalência de sibilância recorrente que o grupo de maior idade gestacional.

Acute-subacute paracoccidioidomycosis: A paediatric cohort of 141 patients, exploring clinical characteristics, laboratorial analysis and developing a non-survival predictor.

The acute-subacute form of paracoccidioidomycosis (PCM) is a severe systemic mycosis that affects children and adolescents from endemic regions, leading to generalised lymphadenopathy, fever, weight loss, anaemia, eosinophilia, hypoalbuminemia and hypergammaglobulinemia. The objective of this study is to describe the clinical and laboratorial characteristics of acute-subacute PCM, to determine a mortality risk factor and to propose a test for non-survival hazard related to the disease. Children and adolescents diagnosed with PCM, under 15 years were included in the study. Their epidemiological, clinical and laboratorial data were obtained from the hospital records. Descriptive analysis, comparison of means, univariate logistic regression, multivariate logistic regression and a ROC curve were performed in order to identify significant information (P < .05). Through a period of 38 years, 141 children and adolescents were diagnosed with acute-subacute PCM. The main antifungal agent used for the treatment was sulfamethoxazole-trimethoprim (SMX-TMP). The complication rate was 17%, the relapse rate was 7.8% and the mortality rate was 5.7%. A low albumin dosage was identified as a predictor factor for mortality. The cut-off for serum albumin was 2.18 g/dL, above which, the survival rate is 99.1%. Thus, simple clinical and laboratorial examinations may lead to the diagnosis of acute-subacute PCM, and the beginning of the treatment is encouraged even before the isolation of the fungus in biological samples, preventing unfavourable outcomes. Patients with an albumin dosage ≤ 2.18g/dL must receive special attention, preferably hospitalised, during the first four weeks of treatment for presenting an elevated mortality hazard.

Managing costs in primary immunodeficiency: minimal immunophenotyping and three national references.

Our aim was to evaluate the cost-effectiveness of a minimal lymphocyte subset quantification (LSQ) by flow cytometry as the first screening in children with clinically suspected primary immunodeficiency (PID). Two hundred sixty-eight Brazilian patients (0-21 years old) were studied. They were divided by clinical and phenotypical features into those fulfilling criteria for PID (PID phenotype) according to the 2017 International Union of Immunological Societies (IUIS) classification and those not fulfilling these criteria (non-PID phenotype). We evaluated how many patients had values below the 10th percentile for five lymphocyte subsets in peripheral blood, (suggestive of PID) according to reference values for Brazil, Italy and USA. Three lymphocyte subsets (T CD3/CD4, B CD19 and NK CD16/CD56) had p-value < 0.05 and Odds Ratio (OR) indicating a risk at least two times higher for the diagnosis of a PID phenotype. The application of Kappa coefficient (k) on Brazilian vs Italian and Brazilian vs US data sets resulted in k compatible with strong or excellent level of agreement between the three classification systems. The authors conclude that a number of CD3+ /CD4+ , CD19+ and CD16+ /CD56+ (NK) cells in peripheral blood <10th percentile represented a significant risk for the diagnosis of PID in this cohort. Natural killer (NK) deficiency is quite rare and has a very specific clinical profile. So, the analysis of these cells could be requested only in some cases, saving even more costs. The minimal immunophenotyping, with quantification of T CD4+ , CD19+ and in some cases CD16+ /CD56+ cells, may be a useful tool for the first screening of PID, saving costs, especially in developing countries.

Lung disease and vitamin D levels in cystic fibrosis infants and preschoolers.

INTRODUCTION: Vitamin D acts on the immune system and lung response. Patients with cystic fibrosis (CF) may be deficient in this vitamin. The aims of the study were to evaluate vitamin D levels and severity of lung disease in infants and preschoolers diagnosed with CF, and to compare them to a group of children without pancreatic insufficiency (PI). METHODS: Patients with CF up to 4 years old were included, and compared to an age-matched group of children without diagnosis of CF. CF group had medical records and High Resolution Thorax Computed Tomography (HRCCT) evaluated in order to verify the severity of lung disease. Information on demographic data, sun exposure habits, supplemental vitamin D therapy, and on the season at the time of vitamin D sampling were collected for both groups. RESULTS: This study included 45 patients in the CF group and 102 in the non-CF group, with no differences in age (P = 0.327) between them. There was no association between vitamin D levels and markers of lung disease in the CF group. The non-CF group had lower daily sun exposure (P = 0.034), and lower supplementation than the CF group (P < 0.001). Supplementation and seasonality were the determinant variables for vitamin D levels, which were lower for non-supplemented children and for assessments during fall/winter. CONCLUSION: There was no association between lung disease severity and vitamin D levels in CF group. Supplementation and seasonality were associated to higher vitamin levels.

Resilience and mental health problems in children and adolescents who have been victims of violence / Resiliência e problemas de saúde mental em crianças e adolescentes vítimas de violência

ABSTRACT OBJECTIVE: To understand the process of resilience (social support and resources of the family environment) and the chance of mental health problems in children and adolescents (9-16 years) who have been victims of domestic violence, assisted in specialized services (Group 1 - G1) and in school services without reports of domestic violence (Group 2 - G2). METHODS: Various semi-structured instruments were applied to the pairs (guardian and child or adolescent): the Strengths and Difficulties Questionnaire (SDQ); the Resiliency Scales for Children and Adolescents (RSCA), including Scale I (SI - sense of control), Scale II (SII - relationship skills) and Scale III (SIII - emotional reactivity); the Social Support Appraisals; the Home Environment Resources Scale and a questionnaire created by the authors to characterize the population. RESULTS: There was no difference in the prevalence of resilience between G1 and G2. Children and adolescents of both groups had a higher chance of low resilience in the absence of perception of social support from the teacher (SI; SIII) and other people in the community (SI; SII). Girls had higher chance of low resilience (SIII). The establishment of routine or rules in the lives of the children and adolescents facilitated the development of resilience (SIII). In G1, the prevalence of mental health problems was 65% for the self-application version of the SDQ for children and adolescents (SDQ/CA) and 54% for the version answered by the guardians (SDQ/G). In G2, it was 33% for SDQ/CA and 37.9% for SDQ/G. Domestic violence against children and adolescents was a risk factor for the development of mental disorders (SDQ/G). Subjects with low resilience (SI) had a higher chance of developing mental health problems (SDQ/CA). Despite originating from the same regions, the groups had socioeconomic differences, which showed no relationship with resilience. CONCLUSIONS: The quality and perception of social support and resources present in the home environment may have facilitated the development of resilience in the studied children and adolescents. Violence may have increased the chance of mental health problems, domestic violence being an aggravating factor. There is need for research on aspects that predict resilience and investment in intervention strategies for this population, as a way to promote mental health.

RESUMO OBJETIVO: Compreender o processo de resiliência (suporte social e recursos do ambiente familiar) e a chance de problemas de saúde mental em crianças e adolescentes (9-16 anos) vítimas de violência doméstica acompanhados em serviços especializados (Grupo 1 - G1) e em escolares sem relatos de situações de violência doméstica (Grupo 2 - G2). MÉTODOS: Diversos instrumentos semiestruturados foram aplicados às díades (responsável e criança ou adolescente): Strengths and Difficulties Questionnaire (SDQ); Resiliency Scales for Children and Adolescents (RSCA), incluindo a Escala I (EI - sentido do controle), a Escala II (EII - capacidade de relacionamento) e a Escala III (EIII - reatividade emocional); Social Support Appraisals; Inventário de Recursos no Ambiente Familiar e um questionário elaborado pelos autores para caracterizar a população. RESULTADOS: Não houve diferença na prevalência de resiliência entre G1 e G2. As crianças e adolescentes de ambos os grupos tiveram maior chance de baixa resiliência na ausência de percepção do suporte social do professor (EI; EIII) e de outras pessoas da comunidade (EI; EII). Meninas apresentaram maior chance de baixa resiliência (EIII). O estabelecimento de rotina ou regras na vida das crianças e adolescentes facilitou o desenvolvimento da resiliência (EIII). No G1 a prevalência de problemas de saúde mental foi de 65% pela versão de autoaplicação do SDQ para crianças e adolescentes (SDQ/CA) e de 54% pela versão respondida pelos responsáveis (SDQ/R). No G2 foi de 33% pelo SDQ/CA e de 37,9% pelo SDQ/R. A violência doméstica infanto-juvenil foi fator de risco para o desenvolvimento de transtornos mentais (SDQ/R). Os sujeitos com baixa resiliência (EI) apresentaram maior chance de problemas de saúde mental (SDQ/CA). Embora provenientes das mesmas regiões, os grupos apresentaram diferenças socioeconômicas, as quais não apresentaram relação com a resiliência. CONCLUSÕES: A qualidade e percepção do suporte social e de recursos presentes no ambiente familiar podem ter facilitado o desenvolvimento da resiliência nas crianças e adolescentes estudados. A violência pode ter aumentado a chance de problemas de saúde mental, sendo a violência doméstica um agravante. Há necessidade de pesquisas sobre os aspectos preditores de resiliência e de investimento em estratégias de intervenção para esta população, como forma de promover a saúde mental.

Factors affecting diagnosis of primary pediatric central nervous system neoplasias in a developing country.

PURPOSE: Understand the variables that could interfere with diagnosis and prompt treatment in CNS childhood cancer in Brazil, a developing country with continental dimensions. METHODS: From 2005 to 2010, we retrospectively evaluated factors, which could represent a negative influence on the time period elapsing from the onset of symptoms until the diagnosis of the central nervous system (CNS) neoplasia in children and adolescents attended in our service. RESULTS: Two hundred seventeen records were analyzed retrospectively. Factors of the households were evaluated, and this data was related to the time period elapsing from presentation of the first symptoms until the diagnosis of CNS neoplasia. The average time elapsed from the onset of the symptoms until seeking medical assistance was 96 days, and from medical assistance to patient referral to a reference service was 33 days. The symptoms which most contributed to a shorter delay in diagnosis were changes in gait and paresis, mother's occupation, father's education level, patient gender, and living in the state of São Paulo. Besides that, variables such as male gender, mother's education level, and lower patient age were associated with an early diagnosis time. CONCLUSION: There is great difficulty in performing early diagnosis of CNS tumors, partly due to parent's inability to recognize signs and symptoms, and in part due to an educational deficit among healthcare professionals. Identification of measures that can minimize these causes of delay is fundamental to increasing the chance of cure and survival of these patients.

Acidentes com crianças e adolescentes, segundo o Inquérito Sentinela / Accidents involving children and adolescents, according to Sentinel Survey

Objetivo Os acidentes são a principal causa de mortalidade entre crianças e adolescentes. Para sua prevenção, faz-se necessário conhecer esses eventos. O objetivo deste estudo foi descrever as características dos acidentes e das vítimas crianças e adolescentes, atendidas nos serviços sentinela de urgência em Campinas, comparando os dados obtidos nos Inquéritos Sentinela dos anos de 2011 e 2014. Métodos Trata-se de estudo descritivo transversal, em que foram incluídas vítimas de acidentes na faixa etária de 0 a 19 anos, residentes em Campinas, e que procuraram atendimento por essas ocorrências pela primeira vez, durante trinta dias consecutivos, em 2011 ou em 2014. Realizou-se análise descritiva por meio de distribuição de frequências e, para a avaliação da associação entre variáveis, empregou-se o teste de Qui-Quadrado. Resultados Foram analisados os dados de 284 atendimentos prestados em 2011, bem como os 414 atendimentos de 2014, de forma comparativa. O estudo concluiu que as vítimas mais frequentes pertenciam ao sexo masculino (59,9% e 63,3%, respectivamente em 2011 e 2014) e foram transportadas ao serviço por veículo particular (66,9% e 69,9%). Os acidentes mais frequentes foram quedas (45,4% e 41,3%) e outros eventos (39,8% e 42,8%), predominando o choque contra objeto/pessoa. Os acidentes ocorreram, principalmente, na residência (39,8% e 46,1%), de segunda a sexta-feira (64,4% e 64,3%), no período entre 12h e 18h (50,0% e 46,9%). A lesão predominante foi contusão (33,8% e 25,8%), principalmente nos membros superiores (38,6% e 29,2%) e nos inferiores (33,7% e 25,6%). A evolução nas primeiras 24 horas foi alta em 90,5% e 92,8% dos casos, respectivamente. Conclusão Em síntese, o estudo concluiu que predominaram vítimas do sexo masculino, que chegaram ao hospital por veículo particular. Prevaleceram quedas dentro da residência, causando contusões em membros, que evoluíram para alta.

Objective Accidents are the main cause of children and adolescent's mortality. For prevention purposes, it is necessary to understand these events. The objective of this study was to describe the characteristics of the accidents and their victims, children and adolescents, at the emergency sentinel health services of Campinas, based on Sentinel Survey 2011 and 2014. Methods A transversal descriptive study with accident victims from 0 to 19 years old, residents in Campinas, seeking treatment for the first time, during 30 consecutive days in 2011 and 2014. A descriptive analysis was carried out by frequency distribution and for the evaluation of the association between variables, a Chi-Square test was performed. Results There were 284 and 414 cases respectively. The most frequent victims were: male (59.9% and 63.3%), transported by private vehicles (66.9% and 69.9%). The accidents were: 45.4% and 41.3% fall; 39.8% and 42.8% others (mainly collision against object/ person). The events occurred mainly at home (39.8% and 46.1%), from Monday to Friday (64.4% and 64.3%), between 12 p.m. and 6 p.m. (50.0% and 46.9%). The most frequent injury was contusion (33.8% and 25.8%), especially upper limbs (38.6% and 29.2%) and lower limbs (33.7% and 25.6%). The evolution in the first 24 hours was discharge in 90.5% and 92.8%. Conclusion The main victims were males that arrived at the hospital on private vehicles. Falls at home that resulted in limb contusions with discharge prevailed.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.

BACKGROUND: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males. AIMS: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development. METHODS: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages. Data on prescribed glucocorticoid dose and serum levels of 17- hydroxyprogesterone (17-OHP), androstenedione (Andro), ACTH, renin, and LH were obtained from medical records. RESULTS: Thirty-eight males were evaluated. The mean age on ultrasonography was 15.2 ± 6.7 (3-27) years. Nine patients (23.7%) had TART, 4 of them were prepubertal and the youngest was 5 years old. No association was found between TART and 21-OHD phenotype, glucocorticoid dose, or 17-OHP, ACTH, LH, renin, and inhibin B levels measured in the 6 preceding years. However, 50% of the patients who presented increased Andro 2 years prior to the evaluation had TART (p = 0.018, OR = 8.00 [95% CI: 1.42-44.92]), whereas in the normal Andro group only 16.7% had tumors. CONCLUSION: This study showed that TART can occur in prepubertal patients and that disease control could be a factor associated with its development. Therefore, we suggest investigating TART development early in childhood, mainly in poorly controlled 21-OHD patients.

Continuous glucose monitoring to evaluate glycaemic abnormalities in cystic fibrosis.

OBJECTIVE: This study aimed to determine the glycaemic profile of patients with cystic fibrosis using a continuous glucose monitoring system (CGMS), and to evaluate the associations of glycaemic abnormalities with sex, age, pubertal stage, CFTR gene mutations, nutritional status, lung function, oral glucose tolerance test, glycated haemoglobin concentrations, fasting insulin concentrations, C peptide concentrations and exocrine pancreatic function. STUDY DESIGN: This observational study evaluated CGMS data from 39 patients with cystic fibrosis who were treated at a referral centre. The patients were 10-19.9 years old, and were categorised according to whether they had normal results (27 patients) or glucose intolerance (12 patients) during the oral glucose tolerance test. RESULTS: The maximum interstitial glucose concentration among individuals with normal oral glucose tolerance test results was 174.9±65.1 mg/dL (9.7-3.61 mmol/L), compared with 170.4±40.9 mg/dL (9.46-2.27 mmol/L) among individuals with glucose intolerance. The CGMS revealed that 18 of the 27 patients with normal oral glucose tolerance test results had peak interstitial glucose concentrations of >140 mg/dL (7.8 mmol/L), and that 4 of these individuals had peak levels of >200 mg/dL (11.1 mmol/L). None of the analysed clinical or laboratory characteristics predicted the occurrence of hyperglycaemic peaks on CGMS. CONCLUSIONS: The present study revealed that CGMS could detect hyperglycaemia among patients with cystic fibrosis and 'normal' oral glucose tolerance test results, and that their clinical and laboratory characteristics were not useful in discerning between patients who did and did not exhibit these excursions.