Endobronchial lesion in a premature neonate.

Endobronchial and endotracheal tumours are rare in the paediatric population, especially in neonates. The common presentation is respiratory distress with persistent lung collapse or hyperinflation. Treatment usually involves endoscopic or surgical lobar resection. This case presents a preterm neonate who developed acute respiratory distress with persistent right upper lobe atelectasis. A flexible bronchoscopy showed a pediculate violaceous endobronchial lesion in the right main bronchus. Endoscopic resection was not possible due to the patient's low weight and the decision was made to support the patient with continuous positive airway pressure (CPAP) at home, while monitoring her closely. Remarkably, the lesion spontaneously resolved, and CPAP support was discontinued successfully. The case emphasises the importance of early bronchoscopy, continuous monitoring and the possibility of using CPAP support until conditions are reunited for an eventual resection. This unique case also demonstrates the potential for spontaneous resolution in some cases.

Changes in the global hospitalisation burden of respiratory syncytial virus in young children during the COVID-19 pandemic: a systematic analysis.

BACKGROUND: The COVID-19 pandemic is reported to have affected the epidemiology of respiratory syncytial virus (RSV), which could have important implications for RSV prevention and control strategies. We aimed to assess the hospitalisation burden of RSV-associated acute lower respiratory infection (ALRI) in children younger than 5 years during the pandemic period and the possible changes in RSV epidemiology from a global perspective. METHODS: We conducted a systematic literature search for studies published between Jan 1, 2020, and June 30, 2022, in MEDLINE, Embase, Global Health, Web of Science, the WHO COVID-19 Research Database, CINAHL, LILACS, OpenGrey, CNKI, WanFang, and CqVip. We included unpublished data on RSV epidemiology shared by international collaborators. Eligible studies reported data on at least one of the following measures for children (aged <5 years) hospitalised with RSV-associated ALRI: hospital admission rates, in-hospital case fatality ratio, and the proportion of hospitalised children requiring supplemental oxygen or requiring mechanical ventilation or admission to intensive care. We used a generalised linear mixed-effects model for data synthesis to measure the changes in the incidence, age distribution, and disease severity of children hospitalised with RSV-associated ALRI during the pandemic, compared with the year 2019. FINDINGS: We included 61 studies from 19 countries, of which 14 (23%) studies were from the published literature (4052 identified records) and 47 (77%) were from unpublished datasets. Most (51 [84%]) studies were from high-income countries; nine (15%) were from upper-middle-income countries, one (2%) was from a lower-middle-income country (Kenya), and none were from a low-income country. 15 studies contributed to the estimates of hospitalisation rate and 57 studies contributed to the severity analyses. Compared with 2019, the rates of RSV-associated ALRI hospitalisation in all children (aged 0-60 months) in 2020 decreased by 79·7% (325 000 cases vs 66 000 cases) in high-income countries, 13·8% (581 000 cases vs 501 000 cases) in upper-middle-income countries, and 42·3% (1 378 000 cases vs 795 000 cases) in Kenya. In high-income countries, annualised rates started to rise in 2021, and by March, 2022, had returned to a level similar to 2019 (6·0 cases per 1000 children [95% uncertainty interval 5·4-6·8] in April, 2021, to March, 2022, vs 5·0 cases per 1000 children [3·6-6·8] in 2019). By contrast, in middle-income countries, rates remained lower in the latest period with data available than in 2019 (for upper-middle-income countries, 2·1 cases [0·7-6·1] in April, 2021, to March, 2022, vs 3·4 [1·2-9·7] in 2019; for Kenya, 2·2 cases [1·8-2·7] in 2021 vs 4·1 [3·5-4·7] in 2019). Across all time periods and income regions, hospitalisation rates peaked in younger infants (aged 0 to <3 months) and decreased with increasing age. A significantly higher proportion of children aged 12-24 months were hospitalised with RSV-associated ALRI in high-income and upper-middle-income countries during the pandemic years than in 2019, with odds ratios ranging from 1·30 (95% uncertainty interval 1·07-1·59) to 2·05 (1·66-2·54). No consistent changes in disease severity were observed. INTERPRETATION: The hospitalisation burden of RSV-associated ALRI in children younger than 5 years was significantly reduced during the first year of the COVID-19 pandemic. The rebound in hospitalisation rates to pre-pandemic rates observed in the high-income region but not in the middle-income region by March, 2022, suggests a persistent negative impact of the pandemic on health-care systems and health-care access in the middle-income region. RSV surveillance needs to be established (or re-established) to monitor changes in RSV epidemiology, particularly in low-income and lower-middle-income countries. FUNDING: EU Innovative Medicines Initiative Preparing for RSV Immunisation and Surveillance in Europe (PROMISE), Bill & Melinda Gates Foundation, and WHO.

Diffuse alveolar haemorrhage in children: an international multicentre study.

Background: Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome. Methods: A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children's and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children's Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years. Results: Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0-12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function. Conclusions: Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined.

Burden and severity of children's hospitalizations by respiratory syncytial virus in Portugal, 2015-2018.

BACKGROUND: Respiratory syncytial virus (RSV) is a leading cause of acute lower respiratory infection (ALRI) in young children and is of considerable burden on healthcare systems. Our study aimed to evaluate ALRI hospitalizations related to RSV in children in Portugal. METHODS: We reviewed hospitalizations potentially related to RSV in children aged <5 years from 2015 to 2018, using anonymized administrative data covering all public hospital discharges in mainland Portugal. Three case definitions were considered: (a) RSV-specific, (b) (a) plus unspecified acute bronchiolitis (RSV-specific & Bronchiolitis), and (c) (b) plus unspecified ALRI (RSV-specific & ALRI). RESULTS: A total of 9697 RSV-specific hospitalizations were identified from 2015 to 2018-increasing to 26 062 for RSV-specific & ALRI hospitalizations-of which 74.7% were during seasons 2015/2016-2017/2018 (November-March). Mean hospitalization rates per season were, for RSV-specific, RSV-specific & Bronchiolitis, and RSV-specific & ALRI, respectively, 5.6, 9.4, and 11.8 per 1000 children aged <5 years and 13.4, 22.5, and 25.9 in children aged <2 years. Most RSV-specific hospitalizations occurred in healthy children (94.9%) and in children aged <2 years (96.3%). Annual direct costs of €2.4 million were estimated for RSV-specific hospitalizations-rising to €5.1 million for RSV-specific & ALRI-mostly driven by healthy children (87.6%). CONCLUSION: RSV is accountable for a substantial number of hospitalizations in children, especially during their first year of life. Hospitalizations are mainly driven by healthy children. The variability of the potential RSV burden across case definitions highlights the need for a universal RSV surveillance system to guide prevention strategies.

Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.

Primary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected, however, these are considered rare. We report on three eleven-year-old children with PCD due to CCNO mutations. All children presented early-onset respiratory symptoms, no cardiac or situs anomalies and moderate to severe clinical courses. Patients 1 and 3 were admitted to a neonatal intensive care unit due to respiratory distress. Patients 1 and 2 had atelectasis and lobar collapse, for which lobectomy was performed for patient 1. Patient 3 also presented otitis media with effusion with conductive hearing loss, requiring tympanostomy tube insertion twice. Diagnosis of PCD for all three required repeated nasal brushings, delaying diagnostic confirmation. Microscopy analysis revealed severely decreased numbers of cilia, but normal ultrastructure and uncoordinated beat pattern in the residual cilia. Surprisingly, the prevalence of pathogenic CCNO variants in our centre is higher than expected (three out of sixteen patients). Pathogenic variants in PCD-causing genes lead to specific ultrastructural defects, and there is a suggestion for genotype-phenotype association. However, there are little longitudinal data evaluating the impact of specific defects on disease progression, but a recent study showed a worse lung disease and poorer nutritional status. Concluding, this report underlies the importance of patient-oriented diagnosis and management in highly experienced PCD centres.

Relevancia a corto plazo de la coinfección viral en pacientes menores de 2 años hospitalizados con infecciones de las vías respiratorias inferiores / Short-term relevance of lower respiratory viral coinfection in inpatients under 2 years of age

Introducción: Avances en el diagnóstico molecular han hecho posible la detección de agentes virales desconocidos en infecciones de las vías respiratorias inferiores (IVRI). Sin embargo, sigue habiendo dudas relativamente a su frecuencia y relevancia. Objetivo: Comparar la clínica y la gravedad entre la infección por virus único y la coinfección en niños admitidos por IVRI. Métodos: Se realizó un estudio durante 3 años consecutivos (2012-2015) que incluyó a niños menores de 2 años ingresados por IVRI. La identificación viral se realizó mediante la técnica de PCR para 16 virus. Los datos clínicos y el uso de los recursos hospitalarios se recogieron de forma estándar durante la estancia hospitalaria y se compararon la infección única con coinfecciones virales. Resultados: Fueron analizadas 524 muestras (451 pacientes); 448 (85,5%) tuvieron al menos un virus identificado. Coinfecciones virales se encontraron en 159 (35,5%). RSV y HRV fueron los virus más frecuentes; bronquiolitis y neumonía, los diagnósticos principales. Los pacientes con coinfecciones virales eran mayores, iban a la guardería, tenían sibilancias recurrentes con más frecuencia y eran más sintomáticos al ingreso. No fueron sometidos a más exámenes, pero les fueron prescritos medicamentos con más frecuencia. El grupo de la coinfección viral no mostró una mayor duración de la estancia hospitalaria, de la necesidad de oxígeno, de UCI o soporte ventilatorio. Discusión: Nuestro estudio mostró una proporción significativa de coinfecciones virales en los niños pequeños ingresados con IVRI y confirma dados previos que muestran que la prescripción es más frecuente en las coinfecciones virales, sin asociación con peor resultado clínico (AU)

Introduction: Advances in molecular diagnosis have made it possible to detect previously unknown viral agents as causative agents of lower respiratory tract infections (LRTI). The frequency and relevance of viral coinfections is still debatable. Objective: compare clinical presentation and severity between single virus infection and viral coinfection in children admitted for LRTI. Methods: A 3-year period observational study (2012-2015) included children younger than two years admitted for LRTI. Viral identification was performed using PCR technique for 16 viruses. Clinical data and use of health resources was gathered during hospital stay using a standard collection form and we compared single virus infection and viral coinfections. Results: The study included 524 samples (451 patients); 448 (85,5%) had at least one virus identified. Viral coinfections were found in 159 (35,5%). RSV and HRV were the most commonly identified virus; bronchiolitis and pneumonia the most frequent diagnosis. Patients with viral coinfections were older, attended day-care centers, had previous recurrent wheezing more frequently and were more symptomatic at admission. These patients did not have more complementary exams performed but were prescribed medications more often. Viral coinfection group did not show longer length of hospital stay and oxygen need, more need for ICU nor ventilatory support. Discussion: Our study showed a significant proportion of viral coinfections in young infants admitted with LRTI and confirmed previous data showing that prescription was more frequent in inpatients with viral coinfections, without an association with worst clinical outcome (AU)

[Short-term relevance of lower respiratory viral coinfection in inpatients under 2 years of age]. / Relevancia a corto plazo de la coinfección viral en pacientes menores de 2 años hospitalizados con infecciones de las vías respiratorias inferiores.

INTRODUCTION: Advances in molecular diagnosis have made it possible to detect previously unknown viral agents as causative agents of lower respiratory tract infections (LRTI). The frequency and relevance of viral coinfections is still debatable. OBJECTIVE: compare clinical presentation and severity between single virus infection and viral coinfection in children admitted for LRTI. METHODS: A 3-year period observational study (2012-2015) included children younger than two years admitted for LRTI. Viral identification was performed using PCR technique for 16 viruses. Clinical data and use of health resources was gathered during hospital stay using a standard collection form and we compared single virus infection and viral coinfections. RESULTS: The study included 524 samples (451 patients); 448 (85,5%) had at least one virus identified. Viral coinfections were found in 159 (35,5%). RSV and HRV were the most commonly identified virus; bronchiolitis and pneumonia the most frequent diagnosis. Patients with viral coinfections were older, attended day-care centers, had previous recurrent wheezing more frequently and were more symptomatic at admission. These patients did not have more complementary exams performed but were prescribed medications more often. Viral coinfection group did not show longer length of hospital stay and oxygen need, more need for ICU nor ventilatory support. DISCUSSION: Our study showed a significant proportion of viral coinfections in young infants admitted with LRTI and confirmed previous data showing that prescription was more frequent in inpatients with viral coinfections, without an association with worst clinical outcome.

Short-term relevance of lower respiratory viral coinfection in inpatients under 2 years of age.

INTRODUCTION: Advances in molecular diagnosis have made it possible to detect previously unknown viral agents as causative agents of lower respiratory tract infections (LRTI). The frequency and relevance of viral coinfections is still debatable. OBJECTIVE: Compare clinical presentation and severity between single virus infection and viral coinfection in children admitted for LRTI. METHODS: A 3-year period observational study (2012-2015) included children younger than two years admitted for LRTI. Viral identification was performed using PCR technique for 16 viruses. Clinical data and use of health resources was gathered during hospital stay using a standard collection form and we compared single virus infection and viral coinfections. RESULTS: The study included 524 samples (451 patients); 448 (85.5%) had at least one virus identified. Viral coinfections were found in 159 (35.5%). RSV and HRV were the most commonly identified virus; bronchiolitis and pneumonia the most frequent diagnosis. Patients with viral coinfections were older, attended day-care centers, had previous recurrent wheezing more frequently and were more symptomatic at admission. These patients did not have more complementary exams performed but were prescribed medications more often. Viral coinfection group did not show longer length of hospital stay and oxygen need, more need for ICU nor ventilatory support. DISCUSSION: Our study showed a significant proportion of viral coinfections in young infants admitted with LRTI and confirmed previous data showing that prescription was more frequent in inpatients with viral coinfections, without an association with worst clinical outcome.

INTRODUCCIÓN: Avances en el diagnóstico molecular han hecho posible la detección de agentes virales desconocidos en infecciones de las vías respiratorias inferiores (IVRI). Sin embargo, sigue habiendo dudas relativamente a su frecuencia y relevancia. OBJETIVO: Comparar la clínica y la gravedad entre la infección por virus único y la coinfección en niños admitidos por IVRI. MÉTODOS: Se realizó un estudio durante 3 años consecutivos (2012-2015) que incluyó a niños menores de 2 años ingresados por IVRI. La identificación viral se realizó mediante la técnica de PCR para 16 virus. Los datos clínicos y el uso de los recursos hospitalarios se recogieron de forma estándar durante la estancia hospitalaria y se compararon la infección única con coinfecciones virales. RESULTADOS: Fueron analizadas 524 muestras (451 pacientes); 448 (85,5%) tuvieron al menos un virus identificado. Coinfecciones virales se encontraron en 159 (35,5%). RSV y HRV fueron los virus más frecuentes; bronquiolitis y neumonía, los diagnósticos principales. Los pacientes con coinfecciones virales eran mayores, iban a la guardería, tenían sibilancias recurrentes con más frecuencia y eran más sintomáticos al ingreso. No fueron sometidos a más exámenes, pero les fueron prescritos medicamentos con más frecuencia. El grupo de la coinfección viral no mostró una mayor duración de la estancia hospitalaria, de la necesidad de oxígeno, de UCI o soporte ventilatorio. DISCUSIÓN: Nuestro estudio mostró una proporción significativa de coinfecciones virales en los niños pequeños ingresados con IVRI y confirma dados previos que muestran que la prescripción es más frecuente en las coinfecciones virales, sin asociación con peor resultado clínico.

Child Health in Portugal.

Portugal has experienced rapid decline of neonatal and infant mortality in the last century, similar to that of other western European states. The joint venture of pediatricians and obstetricians with adequate top-down government commissions for maternal and child health for the decision making by health administrators and a well-defined schedule of preventive and managerial measures in the community and in hospitals are the most likely explanations for this success. Another achievement of child health care services is the registry for special diseases. Education of health care workers plays a fundamental role in improving health statistics. Portugal has a reasonable number of doctors, nurses, and health technicians per capita. Quality assurance monitoring systems and implementation of evidence-based clinical guidelines with digital records, including international coding, are essential steps to improve health care systems.

Acute viral bronchiolitis: Physician perspectives on definition and clinically important outcomes.

BACKGROUND: Two key limitations hamper intervention research in bronchiolitis: the absence of a clear definition of disease, and the heterogeneous choice of outcome measures in current clinical trials. We assessed how paediatricians and general practitioners (GPs) perceived definition and clinically important outcomes in bronchiolitis. METHODS: A nationwide online survey (ABBA study) was conducted through the Portuguese Society of Paediatrics and GPs' mailing lists. We assessed agreement with statements on bronchiolitis definition, and participants were asked to score the relative importance of several outcomes. Principal component analysis (PCA) explored dimensions underlying disease definition. Outcomes were ranked by mean score and proportion given highest score. RESULTS: We included 514 paediatricians and 165 GPs (overall 59% were board-certified). Most paediatricians (76.5%) agreed with a definition based on coryza, wheezing and/or crackles/rales, compared to 38.1% GPs (P < 0.001). Less than 5% physicians agreed with a definition commonly used in clinical trials (<12 months, first episode of wheeze). We retained three dimensions on PCA: one based on coryza, rales/crepitations and no sudden onset; another on number of episodes and age; and a third on wheeze. Dimensions varied by physician specialization and training (P < 0.01). Hospital admission and respiratory distress were top rated outcomes by both groups of physicians. CONCLUSIONS: Physician definitions of bronchiolitis have considerable variability and often mismatch those of clinical trials. Rating of important outcomes was consistent. Our results highlight the need for a robust standardized definition of acute bronchiolitis in infants and support the development of a core outcome set for future clinical trials. Pediatr Pulmonol. 2016;51:724-732. © 2015 Wiley Periodicals, Inc.

Vitamin D-dependent rickets: a resurgence of the rachitic lung in the 21st century.

Respiratory complications of rickets may be life-threatening particularly in developing countries. A 7-month-old boy presented with recurrent infections, seizures, failure to thrive, wheezing and respiratory distress progressing to global respiratory failure. Several antimicrobial regimens, bronchodilators and corticosteroids resulted in only short-term improvement. He was transferred from Cape Verde to a third-care hospital in Portugal. He was hypotonic and undernourished, with respiratory anguish and classical skeletal signs of rickets, despite vitamin D supplementation. Hypocalcaemia, normal phosphate levels and normal vitamin D status 25(OH)D3 and 1.25(OH)2D3) pointed to vitamin D-dependent rickets type II. Treatment with high doses of calcium and calcitriol allowed progressive respiratory, musculoskeletal and neurological recovery. Although respiratory manifestations of rickets were described many years ago, the present case raises relevant issues about the level of diagnostic support, the risk of complications and how they should be assessed and monitored.

[Long-term home oxygen therapy in children: evidences and open issues]. / Oxigenoterapia Domiciliária de Longa Duração na Criança: Evidências e Questões em Aberto.

INTRODUCTION: Long-term home oxygen therapy is indicated for patients with chronic hypoxemia. We intend to describe pediatric population on long-term home oxygen therapy followed-up at Pediatric Respiratory Unit of a tertiary care hospital between 2003-2012 and to compare with previous 1991-2000 review; to verify conformity with international and national recommendations and need for specific pediatric national guidelines, non-existent in Portugal. MATERIAL AND METHODS: Retrospective, descriptive and comparative study based on clinical files review. Review the guidelines for oxygen therapy in pediatric population. RESULTS: We studied 86 patients (59.3% males). The median age at the beginning of oxygen therapy was 0.0 (0.0-216.0) months, with a median duration of 15.0 (3.0-223.0) months. The most frequent diagnosis was bronchopulmonary dysplasia (53.5%), followed by bronchiolitis obliterans (14.0%), neurologic disorders (10.5%), cystic fibrosis (8.1%), miscellaneous syndromes (5.8%), sickle-cell disease (3.5%), other neonatal lung diseases (2.3%) and interstitial lung diseases (2.3%). Are maintained on follow-up 53 (61.6%) patients, 38 on oxygen therapy; 12 (13.9%) died. The median time of follow-up was 39.5 (1.0-246.0) months, minim on other neonatal lung diseases and maximum on cystic fibrosis. Comparing with previous review, this shows a relative increase in bronchiolitis obliterans and bronchopulmonary dysplasia patients, with increased duration in the latter, and inclusion of neurologic and hematologic patients. DISCUSSION: Prescription of long-term oxygen therapy in pediatric age mainly occurs in specific diseases of infants and pre-school aged. Neurologic and hematologic patients represent new indications, similarly to international publications. CONCLUSION: The knowledge of national reality and pediatric orientations are needed for care plans and rational prescription.

IntroduçÉo: Oxigenoterapia domiciliária de longa duraçÉo está indicada em doentes com hipoxémia crónica. Pretendemos descrever a populaçÉo em programa de oxigenoterapia domiciliária de longa duraçÉo acompanhada numa Unidade de Pneumologia Pediátrica de Hospital Terciário entre 2003-2012 e comparar com revisÉo de 1991-2000; verificar conformidade com orientações nacionais e internacionais, refletindo sobre necessidade de orientações nacionais especificamente pediátricas, inexistentes em Portugal.Material e Métodos: Estudo retrospetivo, descritivo e comparativo por consulta de processo clínico. Pesquisa de orientações sobre oxigenoterapia em idade pediátrica.Resultados: Incluímos 86 doentes (59,3% rapazes). A idade mediana de início da oxigenoterapia foi 0,0 (0,0-216,0) meses e a duraçÉo mediana de 15,0 (3,0-223,0) meses. O diagnóstico mais frequente foi displasia broncopulmonar (53,5%), seguindo-se bronquiolite obliterante (14,0%), doença neurológica (10,5%), fibrose quística (8,1%), síndromes polimalformativas (5,8%), doença de células falciformes (3,5%), outras doenças pulmonares neonatais (2,3%) e doenças pulmonares intersticiais (2,3%). Mantêm acompanhamento 53 (61,6%) doentes, 38 mantendo oxigenoterapia; 12 (13,9%) faleceram. O tempo mediano de seguimento foi 39,5 (1,0-246,0) meses, mínimo nas outras doenças pulmonares neonatais e máximo na fibrose quística. Comparativamente ao estudo anterior revela aumento relativo dos lactentes com bronquiolite obliterante e displasia broncopulmonar, aumento da duraçÉo nestes últimos e inclusÉode doentes neurológicos e hematológicos.DiscussÉo: A prescriçÉo de oxigenoterapia domiciliária de longa duraçÉo em pediatria ocorre sobretudo em doenças específicas dos lactentes e idade pré-escolar. Doentes neurológicos e hematológicos sÉo novos grupos de prescriçÉo, à semelhança da literatura internacional.ConclusÉo: O conhecimento da realidade nacional e orientações pediátricas sÉo relevantes para organizaçÉo de cuidados eprescriçÉo racional.

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature.

The multiple meanings of "wheezing": a questionnaire survey in Portuguese for parents and health professionals.

BACKGROUND: Most epidemiological studies on pediatric asthma rely on the report of "wheezing" in questionnaires. Our aim was to investigate the understanding of this term by parents and health professionals. METHODS: A cross-sectional survey was carried out in hospital and community settings within the south of Portugal. Parents or caregivers self-completed a written questionnaire with information on social characteristics and respiratory history. Multiple choice questions assessed their understanding of "wheezing". Health professionals (physicians, nurses and physiotherapists) were given an adapted version. We used bivariate analysis and multivariate models to study associations between definitions of "wheezing" and participants' characteristics. RESULTS: Questionnaires from 425 parents and 299 health professionals were included. The term "wheezing" was not recognized by 34% of parents, more frequently those who were younger (OR 0.4 per 10-year increment, 95% CI 0.3-0.7), had lower education (OR 3.3, 95% CI 1.5-7.4), and whose children had no history of respiratory disease (OR 4.6, 95% CI 2.5-8.7) (all ORs adjusted). 31% of parents familiar with "wheezing" either did not identify it as a sound, or did not locate it to the chest, while tactile (40%) and visual (34%) cues to identify "wheezing" were frequently used. Nurses reported using visual stimuli and overall assessments more often than physicians (p < 0.01). The geographical location was independently associated with how parents recognized and described "wheezing". CONCLUSIONS: Different meanings for "wheezing" are recognized in Portuguese language and may be influenced by education, respiratory history and regional terminology. These findings are likely applicable to other non-English languages, and suggest the need for more accurate questionnaires and additional objective measurement instruments to study the epidemiology of wheezing disorders.

Rastreio de patologia respiratória em crianças em idade escolar com o uso de espirometria portátil / Respiratory disease screening in school-aged children using portable spirometry

OBJETIVOS: Avaliar a prevalência de doença respiratória em crianças em idade escolar e determinar o valor da espirometria de campo. MÉTODOS: Avaliaram-se 313 alunos do primeiro e quarto ano de quatro escolas de Lisboa. Aplicou-se questionário respiratório auto-preenchido, e efetuou-se espirometria. Realizou-se análise descritiva e bivariada seguida de análise de regressão logística múltipla. RESULTADOS: Trinta e cinco por cento das crianças tiveram pelo menos um episódio de sibilância (18 por cento > 2 episódios), e 4 por cento tiveram diagnóstico de asma. Sibilância foi mais frequente com história familiar de atopia (OR ajustado = 2,7, IC95 por cento 1,4-5,1), tabagismo na gravidez, infecção respiratória baixa (IRB) (OR ajustado = 2,8; IC95 por cento 1,2-6,2), bronquiolite (OR ajustado = 3,3; IC95 por cento 1,3-8,2) e alergia a aeroalérgenos (OR ajustado = 3,2; IC95 por cento 1,4-7,2). Asma foi mais frequente com história de IRB (OR ajustado = 14,6; IC95 por cento 1,7-122,9) e alergia a aeroalérgenos (OR ajustado = 8,2; IC95 por cento 2,0-34,2). Cento e sessenta e nove (54 por cento) valores espirométricos preencheram critérios de aceitabilidade. O grupo com sibilância tinha em média valores de escore z inferiores para volume expiratório forçado no primeiro segundo (VEF1), razão entre VEF1 e capacidade vital forçada (CVF) (VEF1/CVF) e fluxo expiratório forçado entre 25 e 75 por cento (FEF25-75) (p < 0,05), além de maior percentagem de crianças com valores anormais para VEF1, VEF1/CVF e FEF25-75 (FEF25-75, p < 0,05). CONCLUSÕES: Este estudo piloto revelou frequência elevada de sintomatologia respiratória obstrutiva em escolares em Lisboa. Verificou-se boa correlação entre o questionário e os valores espirométricos. A baixa prevalência de asma leva-nos a especular que este diagnóstico esteja subestimado nesta população.

OBJECTIVES: To assess the prevalence of respiratory disease in school-aged children and to determine the value of field spirometry. METHODS: Data on 313 1st and 4th graders from four public schools in Lisbon were analyzed. A respiratory self-answered questionnaire and standard spirometry were performed. Descriptive and bivariate analysis was followed by multiple logistic regression. RESULTS: Thirty-five percent of the children presented at least one episode of wheezing (18 percent > 2 episodes), and 4 percent had asthma. Wheezing was more frequent with family history of atopy (adjusted OR = 2.7; 95 percentCI 1.4-5.1), maternal smoking during pregnancy, lower respiratory tract infection (LRTI) (adjusted OR = 2.8; 95 percentCI 1.2-6.2), bronchiolitis (adjusted OR = 3.3; 95 percentCI 1.3-8.2), and allergy to aeroallergens (adjusted OR = 3.2; 95 percentCI 1.4-7.2). Asthma was more frequent with previous history of LRTI (adjusted OR = 14.6; 95 percentCI 1.7-122.9) and allergy to aeroallergens (adjusted OR = 8.2; 95 percentCI 2.0-34.2). Fifty-five percent of spirometry measurements met the acceptability criteria of the American Thoracic Society and of the European Respiratory Society. Wheezers presented mean lower z scores for forced expiratory volume in 1 second (FEV1), ratio between FEV1 and forced vital capacity (FVC) (FEV1/FVC), and forced expiratory flow between 25 and 75 percent (FEF25-75) (p < 0.05), as well as higher percentage of abnormal FEV1, FEV1/FVC and FEF25-75 (FEF25-75, p < 0.05). CONCLUSIONS: This pilot study showed a high prevalence of obstructive airway symptoms in school-aged children in Lisbon. Symptoms assessed by the questionnaire showed good correlation with spirometric values. The small prevalence of asthma leads us to speculate that asthma is under-diagnosed in this population.

Respiratory disease screening in school-aged children using portable spirometry.

OBJECTIVES: To assess the prevalence of respiratory disease in school-aged children and to determine the value of field spirometry. METHODS: Data on 313 1st and 4th graders from four public schools in Lisbon were analyzed. A respiratory self-answered questionnaire and standard spirometry were performed. Descriptive and bivariate analysis was followed by multiple logistic regression. RESULTS: Thirty-five percent of the children presented at least one episode of wheezing (18% ≥ 2 episodes), and 4% had asthma. Wheezing was more frequent with family history of atopy (adjusted OR = 2.7; 95%CI 1.4-5.1), maternal smoking during pregnancy, lower respiratory tract infection (LRTI) (adjusted OR = 2.8; 95%CI 1.2-6.2), bronchiolitis (adjusted OR = 3.3; 95%CI 1.3-8.2), and allergy to aeroallergens (adjusted OR = 3.2; 95%CI 1.4-7.2). Asthma was more frequent with previous history of LRTI (adjusted OR = 14.6; 95%CI 1.7-122.9) and allergy to aeroallergens (adjusted OR = 8.2; 95%CI 2.0-34.2). Fifty-five percent of spirometry measurements met the acceptability criteria of the American Thoracic Society and of the European Respiratory Society. Wheezers presented mean lower z scores for forced expiratory volume in 1 second (FEV1), ratio between FEV1 and forced vital capacity (FVC) (FEV1/FVC), and forced expiratory flow between 25 and 75% (FEF25-75) (p < 0.05), as well as higher percentage of abnormal FEV1, FEV1/FVC and FEF25-75/ (FEF25-75, p < 0.05). CONCLUSIONS: This pilot study showed a high prevalence of obstructive airway symptoms in school-aged children in Lisbon. Symptoms assessed by the questionnaire showed good correlation with spirometric values. The small prevalence of asthma leads us to speculate that asthma is under-diagnosed in this population.

Clinical, radiological, and physiological differences between obliterative bronchiolitis and problematic severe asthma in adolescents and young adults: the early origins of the overlap syndrome?

PURPOSE: Few reports have compared chronic obstructive lung diseases (OLDs) starting in childhood. AIMS: To describe functional, radiological, and biological features of obliterative bronchiolitis (OB) and further discriminate to problematic severe asthma (PSA) or to diagnose a group with overlapping features. RESULTS: Patients with OB showed a greater degree of obstructive lung defect and higher hyperinflation (P < 0.001). The most frequent high-resolution computed tomography (HRCT) features (increased lung volume, inspiratory decreased attenuation, mosaic pattern, and expiratory air trapping) showed significantly greater scores in OB patients. Patients with PSA have shown a higher frequency of atopy (P < 0.05). ROC curve analysis demonstrated discriminative power for the LF variables, HRCT findings and for atopy between diagnoses. Further analysis released five final variables more accurate for the identification of a third diagnostic group (FVC%t, post-bronchodilator ΔFEV(1) in ml, HRCT mosaic pattern, SPT, and D. pteronyssinus-specific IgE). CONCLUSIONS: We found that OB and PSA possess identifiable characteristic features but overlapping values may turn them undistinguishable.