Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Association between severe asthma and changes in the stomatognathic system / Associação entre asma grave e alterações do sistema estomatognático

ABSTRACT Objective: To describe orofacial muscle function in patients with severe asthma. Methods: This was a descriptive study comparing patients with severe controlled asthma (SCA) and severe uncontrolled asthma (SUA). We selected 160 patients, who completed a sociodemographic questionnaire and the 6-item Asthma Control Questionnaire (ACQ-6), as well as undergoing evaluation of orofacial muscle function. Results: Of the 160 patients evaluated, 126 (78.8%) and 34 (21.2%) presented with SCA and SUA, respectively, as defined by the Global Initiative for Asthma criteria. Regardless of the level of asthma control, the most frequent changes found after evaluation of muscle function were difficulty in chewing, oronasal breathing pattern, below-average or poor dental arch condition, and difficulty in swallowing. When the sample was stratified by FEV1 (% of predicted), was significantly higher proportions of SUA group patients, compared with SCA group patients, showed habitual open-mouth chewing (24.8% vs. 7.7%; p < 0.02), difficulty in swallowing water (33.7% vs. 17.3%; p < 0.04), and voice problems (81.2% vs. 51.9%; p < 0.01). When the sample was stratified by ACQ-6 score, the proportion of patients showing difficulty in swallowing bread was significantly higher in the SUA group than in the SCA group (66.6% vs. 26.6%; p < 0.01). Conclusions: The prevalence of changes in the stomatognathic system appears to be high among adults with severe asthma, regardless of the level of asthma control. We found that some such changes were significantly more common in patients with SUA than in those with SCA.

RESUMO Objetivo: Descrever os achados da avaliação miofuncional orofacial em pacientes com asma grave. Métodos: Estudo descritivo comparando pacientes com asma grave controlada (AGC) e asma grave não controlada (AGNC). Foram selecionados 160 participantes, que responderam a um questionário sociodemográfico e o Asthma Control Questionnaire com seis questões (ACQ-6) e realizaram avaliação miofuncional orofacial. Resultados: Na amostra estudada, 126 (78,8%) e 34 (21,2%) pacientes, respectivamente, apresentavam AGC e AGNC segundo os critérios da Global Initiative for Asthma. Independentemente do nível de controle da asma grave, as alterações mais frequentes observadas na avaliação miofuncional foram problemas de mastigação, padrão de respiração oronasal, estado de conservação da arcada dentária médio ou ruim e problemas na deglutição. Quando a amostra foi estratificada pelo VEF1 (% do previsto), os resultados foram significativamente maiores no grupo AGNC que no grupo AGC quanto a mastigação habitual com boca aberta (24,8% vs. 7,7%; p < 0,02), deglutição de água com dificuldade (33,7% vs. 17,3%; p < 0,04) e problemas de voz (81,2% vs. 51,9%; p < 0,01). Quando estratificada pelo ACQ-6, os resultados do grupo AGNC foram significativamente maiores que no grupo AGC quanto à deglutição de pão com dificuldade (66,6% vs. 26,6%; p < 0,01). Conclusões: A prevalência de alterações do sistema estomatognático parece ser alta em adultos com asma grave independentemente do nível de controle da doença. No grupo AGNC, algumas dessas alterações foram significativamente mais frequentes que no grupo AGC.

Association between severe asthma and changes in the stomatognathic system.

OBJECTIVE:: To describe orofacial muscle function in patients with severe asthma. METHODS:: This was a descriptive study comparing patients with severe controlled asthma (SCA) and severe uncontrolled asthma (SUA). We selected 160 patients, who completed a sociodemographic questionnaire and the 6-item Asthma Control Questionnaire (ACQ-6), as well as undergoing evaluation of orofacial muscle function. RESULTS:: Of the 160 patients evaluated, 126 (78.8%) and 34 (21.2%) presented with SCA and SUA, respectively, as defined by the Global Initiative for Asthma criteria. Regardless of the level of asthma control, the most frequent changes found after evaluation of muscle function were difficulty in chewing, oronasal breathing pattern, below-average or poor dental arch condition, and difficulty in swallowing. When the sample was stratified by FEV1 (% of predicted), was significantly higher proportions of SUA group patients, compared with SCA group patients, showed habitual open-mouth chewing (24.8% vs. 7.7%; p < 0.02), difficulty in swallowing water (33.7% vs. 17.3%; p < 0.04), and voice problems (81.2% vs. 51.9%; p < 0.01). When the sample was stratified by ACQ-6 score, the proportion of patients showing difficulty in swallowing bread was significantly higher in the SUA group than in the SCA group (66.6% vs. 26.6%; p < 0.01). CONCLUSIONS:: The prevalence of changes in the stomatognathic system appears to be high among adults with severe asthma, regardless of the level of asthma control. We found that some such changes were significantly more common in patients with SUA than in those with SCA. OBJETIVO:: Descrever os achados da avaliação miofuncional orofacial em pacientes com asma grave. MÉTODOS:: Estudo descritivo comparando pacientes com asma grave controlada (AGC) e asma grave não controlada (AGNC). Foram selecionados 160 participantes, que responderam a um questionário sociodemográfico e o Asthma Control Questionnaire com seis questões (ACQ-6) e realizaram avaliação miofuncional orofacial. RESULTADOS:: Na amostra estudada, 126 (78,8%) e 34 (21,2%) pacientes, respectivamente, apresentavam AGC e AGNC segundo os critérios da Global Initiative for Asthma. Independentemente do nível de controle da asma grave, as alterações mais frequentes observadas na avaliação miofuncional foram problemas de mastigação, padrão de respiração oronasal, estado de conservação da arcada dentária médio ou ruim e problemas na deglutição. Quando a amostra foi estratificada pelo VEF1 (% do previsto), os resultados foram significativamente maiores no grupo AGNC que no grupo AGC quanto a mastigação habitual com boca aberta (24,8% vs. 7,7%; p < 0,02), deglutição de água com dificuldade (33,7% vs. 17,3%; p < 0,04) e problemas de voz (81,2% vs. 51,9%; p < 0,01). Quando estratificada pelo ACQ-6, os resultados do grupo AGNC foram significativamente maiores que no grupo AGC quanto à deglutição de pão com dificuldade (66,6% vs. 26,6%; p < 0,01). CONCLUSÕES:: A prevalência de alterações do sistema estomatognático parece ser alta em adultos com asma grave independentemente do nível de controle da doença. No grupo AGNC, algumas dessas alterações foram significativamente mais frequentes que no grupo AGC.

Microbiology of the middle meatus compared to sputum in young patients with cystic fibrosis from Bahia - Brazil.

Lower airway infection is a major cause of morbidity and mortality in patients with cystic fibrosis. It is currently unknown if the infection of the upper airway can cause exacerbation of lower respiratory tract infection. This study aimed to determine the microbiological profile of the anterior paranasal sinuses outflow tract (middle meatus) of cystic fibrosis outpatients. The microbiological profile was defined using endoscopically directed middle meatal cultures. Paired middle meatal and sputum specimens were collected from 56 outpatients for aerobic cultures. A semi-quantitative leukocyte count of the middle meatal samples was performed. The median age of patients was nine years (3-20 years). Staphylococcus aureus (37%), Staphylococcus coagulase-negative (25%), Neisseriac (14%), Pseudomonas aeruginosa (11%), and Streptococcus pneumoniae (7%) were the most prevalent microorganisms in the middle meatal cultures. Using the middle meatal leukocyte count, 16 out of 54 patients (29.6%) presented sinus infection. The most frequently identified pathogens in patients with sinus infections were Staphylococcus aureus (10 patients), Pseudomonas aeruginosa (4 patients), and Streptococcus pneumoniae (3 patients). Agreement of paired middle meatal and sputum cultures was significantly higher among patients with infection in middle meatal (69%). The most common middle meatal pathogens were the typical cystic fibrosis spectrum. This suggests the potential for participating in post-nasal lower airway seeding.

[Symptoms of obstructive sleep apnea-hypopnea syndrome in children]. / Sintomas da síndrome de apnéia-hipopnéia obstrutiva do sono em crianças.

OBJECTIVE: To investigate the symptoms most frequently found in children with a polysomnographic diagnosis of obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: We evaluated 38 children consecutively referred to the sleep laboratory with suspicion of OSAHS between June of 2003 and December of 2004. The patients were submitted to a pre-sleep questionnaire and to polysomnography. RESULTS: The mean age was 7.8 +/- 4 years (range, 2-15 years), and 50% of the children were male. Children without apnea accounted for 7.9% of the sample. The obstructive sleep apnea observed in the remainder was mild in 42.1%, moderate in 28.9% and severe in 22.1%. Severe cases of apnea were most common among children under the age of six (pre-school age). In children with OSAHS, the most common symptoms were snoring and nasal obstruction, which were observed in 74.3 and 72.7% of the children, respectively. Excessive sleepiness and bruxism were seen in 29.4 and 34.3%, respectively, and reflux disease was seen in only 3.1%. Restless legs and difficulty in falling asleep were identified in 65 and 33%, respectively. All of the children diagnosed with severe OSAHS also presented snoring and bruxism. CONCLUSIONS: Snoring and nasal obstruction were the most common symptoms found in our sample of children and adolescents with OSAHS. In addition, OSAHS severity was associated with being in the lower age bracket.

Sintomas da síndrome de apnéia-hipopnéia obstrutiva do sono em crianças / Symptoms of obstructive sleep apnea-hypopnea syndrome in children

OBJETIVOS: Investigar os sintomas mais freqüentes encontrados em crianças com diagnóstico polissonográfico de síndrome da apnéia-hipopnéia obstrutiva do sono (SAHOS). MÉTODOS: Foram avaliadas 38 crianças consecutivamente encaminhadas ao laboratório do sono com suspeita de SAHOS no período de junho de 2003 a dezembro de 2004. Os pacientes foram submetidos a um questionário pré-sono e a polissonografia. RESULTADOS: A idade média foi de 7,8 ± 4 anos (variação, 2-15 anos), sendo 50 por cento das crianças do sexo masculino. Não apnéicos corresponderam a 7,9 por cento dos pesquisados, distúrbio leve obstrutivo do sono ocorreu em 42,1 por cento, moderado em 28,9 por cento e severo em 22,1 por cento. Observou-se maior freqüência de casos severos de apnéia entre crianças menores de seis anos (idade pré-escolar). Dentre as crianças com SAHOS, os sintomas mais citados foram ronco e obstrução nasal, presentes em 74,3 e 72,7 por cento das crianças, respectivamente. Sonolência excessiva e bruxismo ocorreram em, respectivamente, 29,4 e 34,3 por cento dos casos e doença do refluxo em apenas 3,1 por cento. Agitação das pernas e dificuldade para iniciar o sono foram encontradas em, respectivamente, 65 e 33 por cento dos avaliados. Todas as crianças que apresentaram SAHOS de grau severo tinham queixa de ronco e bruxismo. CONCLUSÕES: Nossos resultados mostraram que os sintomas mais freqüentes em crianças e adolescentes com SAHOS são ronco e obstrução nasal. Além disso, quadros mais graves da SAHOS estão associados à menor faixa etária.

OBJECTIVE: To investigate the symptoms most frequently found in children with a polysomnographic diagnosis of obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: We evaluated 38 children consecutively referred to the sleep laboratory with suspicion of OSAHS between June of 2003 and December of 2004. The patients were submitted to a pre-sleep questionnaire and to polysomnography. RESULTS: The mean age was 7.8 ± 4 years (range, 2-15 years), and 50 percent of the children were male. Children without apnea accounted for 7.9 percent of the sample. The obstructive sleep apnea observed in the remainder was mild in 42.1 percent, moderate in 28.9 percent and severe in 22.1 percent. Severe cases of apnea were most common among children under the age of six (pre-school age). In children with OSAHS, the most common symptoms were snoring and nasal obstruction, which were observed in 74.3 and 72.7 percent of the children, respectively. Excessive sleepiness and bruxism were seen in 29.4 and 34.3 percent, respectively, and reflux disease was seen in only 3.1 percent. Restless legs and difficulty in falling asleep were identified in 65 and 33 percent, respectively. All of the children diagnosed with severe OSAHS also presented snoring and bruxism. CONCLUSIONS: Snoring and nasal obstruction were the most common symptoms found in our sample of children and adolescents with OSAHS. In addition, OSAHS severity was associated with being in the lower age bracket.