Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
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DNA Mutational Analysis↗
Biomedical subjects
H J L Brackel
Publications and source records attributed to H J L Brackel.
Applicability of interrupter resistance measurements using the MicroRint in daily practice.
This study was performed to evaluate the applicability of a simple device (MicroRint) for measuring airway resistance, to derive normal values and to compare values with maximal expiratory flow volume (MEFV) parameters in asthmatic and healthy children. Repetitive R(int) measurements were performed in 125 healthy children and 107 asthmatic children (age range 0.8-16.8 years). In 42 asthmatic patients R(int) and MEFV values were compared and in 29 asthmatic children bronchodilation testing was performed. Successful R(int) measurements were possible in 91% of the children. The mean coefficient of variation of repeated measurements was 7.1 (+/-6.1)%. R(int) values of healthy children showed a significant curvilinear correlation with age (r=-0.80, P < 0.001) and height (r=-0.81, P < 0.001). In asthmatic and healthy children R(int) values were comparable. A significant inverse correlation was found between R(int) and MEFV values (for FEV1 and R(int) r=-0.80, P < 0.001). After bronchodilation there was a significant increase in FEV1 and decrease in R(int), but changes between the two parameters did not correlate. In conclusion, the interrupter technique is feasible and repeatable in children and has a significant correlation with other parameters of airway caliber. Baseline values do not discriminate healthy from asthmatic children.
Airway Resistance↗
Lung function abnormalities in children with type I diabetes.
Recent developments in intrabronchial administration of insulin raise lung function in patients with type I diabetes as important issue. Several studies in adults report abnormalities of lung function of these patients. The aim of this study was to investigate lung function in children with type I diabetes. Twenty-seven children with type I diabetes performed measurement of airway obstruction (forced flow-volume curves), lung volumes and airway resistance (bodyplethysmography) and of pulmonary carbon monoxide diffusion capacity Mean age (+/- SD) of the children was 12.8 +/- 5 years. Mean time between the detection of type I diabetes and the lung function tests was 5.5 years with a variation from I to 17 years. The total airway resistance (Raw) was significantly higher compared to the reference values (P < 0.001). The other lung function parameters were not significantly different from reference values (P > 0.05). In this relatively small study no relationship between lung function abnormalities and age, the duration of disease or level of HbA1c was observed. Our data show that increase of airway resistance do occur in children withtype I diabetes. Progressive abnormalities in lung function might interfere with the promising results of treatment with intrabronchial administration of insulin.
Adolescent↗
Children with mild asthma: do they benefit from inhaled corticosteroids?
In children with mild asthma, who show hardly any abnormalities in pulmonary function, objective measurement of the effect of inhaled corticosteroids is difficult. The short term effect of fluticasone propionate (FP) in these children was evaluated, using both subjective and objective parameters. A total of 68 children (5-10 yrs old) were randomly assigned to either FP 250 microg or placebo twice daily as metered-dose inhaler via spacer during 12 weeks. Symptom scores, use of rescue medication, wheezing, parent global evaluation and pulmonary function tests including forced expiratory volume in one second (FEV1), peak expiratory flow (PEF) and bronchial responsiveness (provocation dose of methacholine causing a 20% fall in FEV1 (PD20)) were evaluated. FP-treated versus placebo-treated children showed significant changes in percentage symptom-free days, use of beta2-mimetics, morning and evening PEF, FEV1 % pred and wheezing. No significant improvements were found in parent global evaluation, absolute values of FEV1 nor PD20. These findings show that inhaled corticosteroids are effective in children with mild asthma. This effect can be assessed by both objective and subjective parameters. Early start of inhaled corticosteroids should be considered even when pulmonary function is normal.
Administration, Inhalation↗