Regional differences in diagnosing asthma and other allergic diseases in Estonian schoolchildren.

UNLABELLED: The aim of this study was to estimate the prevalence of asthma and other allergic diseases among Estonian schoolchildren of the cities lacking special (pediatric allergological) health care. MATERIAL AND METHODS: The study, carried out through 1 March to 8 May, 2003, enrolled 5th- to 12th-grade schoolchildren of 4 schools in different regions of Estonia. A three-step protocol was followed: screening questionnaire, examination by a pulmonary resident, and consultation by a pediatric allergologist. RESULTS: Of the 3132 questionnaires distributed, 1561 (49%) were returned. A total of 828 schoolchildren answered positively to any of the questions about possible allergic disease. After examination by the pulmonary resident, 255 schoolchildren (15.7%) were referred to an allergologist for final diagnosis. Asthma was diagnosed in 4.8%, allergic rhinoconjunctivitis in 4.9%, and atopic eczema in 8.3% of schoolchildren. Asthma, allergic rhinoconjunctivitis, and urticaria occurred more frequently in Narva as compared with Võru. CONCLUSION: The 12-month prevalence of asthma among Estonian schoolchildren was 4.8%, and the prevalence of allergic diseases varied from region to region. Less than half (40%) of all asthma cases identified during the study were newly diagnosed, and this clearly indicates that there is a considerable underdiagnosis of the disease among schoolchildren living outside of the centers in Estonia.

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 784 039)×1) encompassing only 9 genes - HOXB1 to HOXB9. The deletion was not found in her mother or father. This is the first report of a patient with a HOXB gene cluster deletion involving only HOXB1 to HOXB9 genes. By comparing our case to previously reported five patients with larger chromosomal aberrations involving the HOXB gene cluster, we can suppose that HOXB gene cluster deletions are responsible for growth retardation, developmental delay, and specific facial dysmorphic features. Also, we suppose that bilateral inguinal hernias, tracheo-esophageal abnormalities, and lung malformations represent features with incomplete penetrance. Interestingly, previously published knock-out mice with targeted heterozygous deletion comparable to our patient did not show phenotypic alterations.

Fluticasone furoate nasal spray: effective monotherapy for symptoms of perennial allergic rhinitis in adults/adolescents.

Intranasal corticosteroids are widely prescribed for the treatment of perennial allergic rhinitis (PAR). The purpose of this study was to evaluate the efficacy and tolerability of intranasal fluticasone furoate, a novel enhanced-affinity glucocorticoid, in patients > or =12 years of age with PAR in a global, randomized, double-blind, placebo-controlled, 6-week study. Patients (n = 302) received fluticasone furoate nasal spray (FFNS) 110 microg or vehicle placebo once daily (q.d.). The primary efficacy measure was mean change from baseline over the 6-week treatment period in daily reflective total nasal symptom score (TNSS). Secondary end points included mean change from baseline in total and individual reflective nasal and ocular symptom scores and in daily peak nasal inspiratory flow (PNIF). FFNS was significantly more effective than placebo in reducing daily reflective TNSS over the treatment period (least square [LS] mean difference, -1.256; p < 0.001). Significant improvements were also established in total ocular symptom score (LS mean difference, -0.506; p = 0.004 versus placebo) and in all individual nasal (p < 0.001) and ocular (p < 0.03) symptoms assessed in a reflective manner. Improvements in daily PNIF were significantly greater with FFNS than placebo (LS mean difference, 8.376 L/minute; p = 0.004). FFNS was well tolerated. In this study, FFNS 110 microg q.d. was well tolerated and effective in reducing the nasal and ocular symptoms of PAR in adult and adolescent patients > or =12 years of age.