Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism.

Background: Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appear to suffer from airway obstruction related to infection or exercise, prompting use of inhaled therapies.

Immunohistology and remodeling in fatal pediatric and adolescent asthma.

Background: Thickening of reticular basement membrane, increased airway smooth muscle mass and eosinophilic inflammation are found in adult fatal asthma. At the present study the histopathology of fatal paediatric and adolescent asthma is evaluated.

Methods: Post-mortem lung autopsies from 12 fatal asthma cases and 8 non-asthmatic control subjects were examined.

Measurement of tidal breathing flows in infants using impedance pneumography.

Tidal breathing flow volume (TBFV) profiles have been used to characterise altered lung function. Impedance pneumography (IP) is a novel option for assessing TBFV curves noninvasively. The aim of this study was to extend the application of IP for infants and to estimate the agreement between IP and direct pneumotachograph (PNT) measurements in assessing tidal airflow and flow-derived indices.

Lung function, airway remodeling, and inflammation in infants: outcome at 8 years.

Background: Associations between early deficits of lung function, infant airway disease, and outcome at school age in symptomatic infants are still unclear.

Objective: To report follow-up data on a unique cohort of children investigated invasively in infancy to determine predictive value of airway disease for school-aged respiratory outcomes.

Methods: Fifty-three infants previously studied using bronchoscopy and airway conductance were approached at 8 years of age.

Bone health and risk factors of cardiovascular disease--a cross-sectional study in healthy young adults.

Objective: Both osteoporosis and cardiovascular disease (CVD) are diseases that comprise a growing medical and economic burden in ageing populations. They share many risk factors, including ageing, low physical activity, and possibly overweight. We aimed to study associations between individual risk factors for CVD and bone mineral density (BMD) and turnover markers (BTMs) in apparently healthy cohort.

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.

Assessing direct and indirect airway hyperresponsiveness in children using impulse oscillometry.

Background: Airway hyperresponsiveness (AHR) is a hallmark of asthma but its assessment is usually restricted to older children who are capable of performing the maneuvers involved in spirometry. In younger children, a feasible option to perform the lung function measurement is impulse oscillometry (IOS), which requires less cooperation.

Objective: To evaluate whether assessment of AHR by IOS could differentiate children with various obstructive symptoms from one another.

Bronchoalveolar lavage in infants with recurrent lower respiratory symptoms.

Background: Few data are available about the inflammatory cytokine profile of bronchoalveolar lavage (BAL) from young children with frequent wheeze. The first aim was to investigate the BAL cellular and cytokine profiles in infants with recurrent lower respiratory symptoms in whom bronchoscopy was indicated for clinical symptom evaluation. The second aim was to relate the BAL results with the histological findings of the endobronchial carina biopsies.

Breast-fed infants and their later cardiovascular health: a prospective study from birth to age 32 years.

The aim of the present study was to evaluate the impact of infant breast-feeding on cardiovascular risk in young adults. This unique study group involved 158 subjects (eighty-two females) originally collected prospectively at birth in 1975 and followed up to the age of 32 years. Frequent visits during the first year guaranteed the knowledge of the precise duration of breast-feeding.

BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.

Interstitial lung disease (ILD) is a complex and heterogeneous disorder that is often associated with autoimmune syndromes. Despite the connection between ILD and autoimmunity, it remains unclear whether ILD can develop from an autoimmune response that specifically targets the lung parenchyma. We examined a severe form of autoimmune disease, autoimmune polyglandular syndrome type 1 (APS1), and established a strong link between an autoimmune response to the lung-specific protein BPIFB1 (bactericidal/permeability-increasing fold-containing B1) and clinical ILD.

Very low birth weight and respiratory outcome: association between airway inflammation and hyperresponsiveness.

Background: The respiratory outcomes after preterm birth have changed, and it is unclear whether increased airway hyperresponsiveness (AHR) later in childhood is associated with airway inflammation.

Objective: To investigate the association between AHR and fractional exhaled nitric oxide (FeNO), including the alveolar concentration of nitric oxide, in school-age children with very low birth weight (VLBW).

Methods: Twenty-nine children with VLBW, 33 children with a history of early wheeze, and 60 healthy controls underwent a FeNO measurement and bronchial challenge test with histamine.

Neuroendocrine cell hyperplasia of infancy: a prospective follow-up of nine children.

Neuroendocrine cell hyperplasia of infancy (NEHI) has recently been described as an obstructive airway disease that affects infants aged 1-24 months, and presents typically with tachypnoea, crackles and hypoxia. The pathogenesis of the disease is unknown. We describe the clinical course of nine infants with radiologically and histologically confirmed NEHI.

The effect of montelukast on respiratory symptoms and lung function in wheezy infants.

Our aim was to investigate the effectiveness of montelukast in recurrently wheezy infants. We randomised 113, 6-24-month-old children with recurrent wheezing to receive either placebo or montelukast daily for an 8-week period. The primary end-point was symptom-free days.

Salmeterol and fluticasone in young children with multiple-trigger wheeze.

Background: Treatment guidelines recommend using an inhaled corticosteroid (ICS) plus a long-acting β(2)-agonist (LABA) for childhood asthma when the symptoms are not controlled by ICS alone, but the appropriate use of LABAs in children continues to be debated.

Objective: To compare the efficacy of an inhaled salmeterol and fluticasone propionate combination, 50/100 μg twice daily, with fluticasone propionate, 100 μg twice daily, or salmeterol, 50 μg twice daily, in children with multiple-trigger wheeze.

Methods: A total of 105 children 4 to 7 years of age with multiple-trigger wheezing based on respiratory symptoms and bronchodilator responsiveness and/or exercise-induced bronchoconstriction without a viral cold were randomized to salmeterol-fluticasone, fluticasone propionate alone, or salmeterol alone via a metered-dose inhaler and a spacer device for 8 weeks.

Breastfeeding and determinants of adult body composition: a prospective study from birth to young adulthood.

Background: The impact of breastfeeding on adult body composition is controversial. We evaluated effects of lifestyle and childhood-related factors, including infant feeding, on adult body composition.

Methods: We determined total body and trunk fat and lean mass by densitometry in 158 adults who were born full-term and prospectively followed from birth to the age of 32 years.

[Congenital ciliary dysfunction in children].

Congenital ciliary dysfunctions are recessively inherited disorders. The disorder is poorly recognized, if the patient has no situs inversus. The diagnosis is delayed, being made on the average at the age of over five years.

Infant milk feeding influences adult bone health: a prospective study from birth to 32 years.

Background: Peak bone mass, attained by early adulthood, is influenced by genetic and life-style factors. Early infant feeding and duration of breastfeeding in particular, associate with several health-related parameters in childhood. The aim of this study was to examine whether the effects of early infant feeding extend to peak bone mass and other bone health characteristics at adult age.

Lung function, airway remodelling and inflammation in symptomatic infants: outcome at 3 years.

Background: Relationships between early deficits of lung function, infant airway pathology and outcome in symptomatic infants are unclear. A study was undertaken to determine the associations between early lung function, airway histology and inflammation in symptomatic infants with the continuance of respiratory symptoms, lung function and subsequent use of inhaled asthma medication at the age of 3 years.

Methods: 53 children who underwent lung function measurements and bronchoscopy following referral to a specialist children's hospital for recurrent lower respiratory symptoms at a mean age of 1 year were followed up at 3 years of age.

Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.

Patients with autoimmune polyendocrine syndrome type 1 (APS-1) suffer from multiple organ-specific autoimmunity with autoantibodies against target tissue-specific autoantigens. Endocrine and nonendocrine organs such as skin, hair follicles, and liver are targeted by the immune system. Despite sporadic observations of pulmonary symptoms among APS-1 patients, an autoimmune mechanism for pulmonary involvement has not been elucidated.

Longitudinal follow-up of bronchial inflammation, respiratory symptoms, and pulmonary function in adolescents after repair of esophageal atresia with tracheoesophageal fistula.

Objective: To characterize symptoms, pulmonary function tests (PFT) and bronchial responsiveness (BR) in adolescents after repaired esophageal atresia with tracheoesophageal fistula and correlate these with endobronchial biopsy findings.

Study Design: After a primary operation, 31 patients underwent endoscopies and bronchoscopies at the age of <3, 3 to 7, and >7 years. A questionnaire on respiratory and esophageal symptoms was sent to patients at a mean age of 13.

Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.

Objective: To assess the prevalence, predictors, and course of bronchiectasis in patients with cartilage-hair hypoplasia.

Study Design: Patients who had undergone high-resolution computed tomography of the lungs or bronchography were included in the study. Hospital records were coorelated for clinical features, respiratory symptoms, and laboratory variables.

Fatal asthma in Finnish children and adolescents 1976-1998: validity of death certificates and a clinical description.

Several studies show that asthma mortality in children and adolescents increased until the mid-1990s, after which it has slightly decreased worldwide. The objective of this study was to describe the mortality rates of childhood asthma in Finland, and to analyze patient characteristics to identify predisposing factors for fatal asthma exacerbation among children and adolescents during 1976-1998 (2004). All death certificates where asthma or related respiratory tract disease was coded as the underlying cause of death were reviewed for those under 20 years of age.

Human rhinovirus in bronchial epithelium of infants with recurrent respiratory symptoms.

Background: Human rhinoviruses (HRVs) are a common cause of upper respiratory tract infections. There is growing evidence that HRVs are also important in lower respiratory tract infections and often induce asthma exacerbations.

Objective: We evaluated the presence of HRV in the lower respiratory tract by obtaining bronchial biopsies from infants with recurrent asthmalike respiratory symptoms.