Expiratory variability index (EVI) is associated with the severity of acute bronchial obstruction in small children: A proof-of-concept study.

BACKGROUND: Lung function testing in small children is cumbersome. However, reduced variability of tidal breathing recorded using impedance pneumography (IP) during sleep was recently found to be a potential objective marker of wheeze in children aged 1-5 years. We aimed to investigate how an acute bronchial obstruction (BO) and its severity, and recovery thereof reflect in expiratory variability index (EVI). METHODS: EVI was measured using a wearable IP system (Ventica®) during sleep in 40 healthy controls (aged 1.5-5.9 years) and 30 patients hospitalized due to acute BO (aged 1.3-5.3 years). In healthy controls, EVI was measured for 1-3 nights at their homes. Patients were measured for several nights during hospitalization, as practically feasible, and at home 2 and 4 weeks post-discharge. RESULTS: We received 79 EVI results from 39 controls and 139 from 30 patients. 90% had previous BO episodes, 30% used asthma controller medication before and 100% after hospitalization. Compared to controls, EVI was significantly lower during hospitalization (P < .0001) having significant correlation with number of days to discharge (r = -.38, P = .004). At 2 or 4 weeks post-discharge, EVI was not significantly different from the controls (P = .14, P = .49, respectively). EVI was significantly associated with chest auscultation findings (P = .0001) being 17.5 (4.9) (median, IQR) with normal auscultation, 15.6 (7.4) in those with prolonged expiration and 11.4 (6.8) in those with wheeze and/or rales and crackles. CONCLUSIONS: EVI was found to be a sensitive, objective marker of acute BO, showing strong association with changes in clinical status in wheezy children aged 1-5 years.

Prevalence of fetal alcohol syndrome and maternal characteristics in a sample of schoolchildren from a rural province of Croatia.

Fetal alcohol syndrome (FAS) is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS) prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6%) answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2%) schoolchildren and disclosed 14 (1.7%) with clinical signs of FAS and 41 (5.0%) of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD.

FAS prevalence in a sample of urban schoolchildren in Croatia.

We present the results of active case ascertainment of fetal alcohol syndrome (FAS). This study included a sample of urban schoolchildren attending 1st to 4th grade elementary school and their mothers. Out of 912 mothers, 575 (63.04%) participated in the interview. Prenatal alcohol consumption was admitted by 15.47% and binge drinking by 3.13% of interviewed mothers. We evaluated 466 (51.09%) schoolchildren for signs of FAS or partial fetal alcohol syndrome (PFAS) using revised Institute of Medicine (IOM) diagnostic criteria. Nineteen students had features consistent with FAS or PFAS. The observed prevalence of FAS is 3 children and of PFAS is 16 children among 466 students, based on 51% participation rate. The estimated prevalence of FAS is 6.44/1000, of PFAS 34.33/1000 and overall prevalence of FAS/PFAS 40.77/1000. This is the first study of FAS prevalence in Croatia and as far as we are aware the second study in Europe.

Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.

UNLABELLED: Although offered, two of our Hurler patients (OMIM 607014) had not undergone bone marrow transplantation at an early stage of their disease. Rapid disease progression had resulted in a range of signs and symptoms representative of advanced neurodegeneration and debilitating somatic Hurler disease. As general palliative care had only little impact on the burden of disease, laronidase (Aldurazyme) treatment was introduced in an attempt to alleviate somatic symptoms and to improve the quality of their lives. Therapeutic benefits from enzyme replacement therapy included improvements in general physical condition and mood, as well as normalisation of the sleep patterns, disappearance of sleep apnoea syndrome and reduction of hepatosplenomegaly. Improvements in the joint mobility were mainly limited to the wrists and hips. In addition, improvements in cardiac function, stool habits, visual acuity, corneal clouding and hearing were observed in one or both patients. Irreversible skeletal changes did not deteriorate. The neurological outcome of these patients is likely not influenced as laronidase is believed not to pass the blood-brain barrier. Therefore, the decision to initiate this therapy in transplant-naïve Hurler patients with an advanced stage of the disease should be taken after careful consideration. CONCLUSION: We are of the opinion that the option of enzyme therapy should not be excluded in severely affected Hurler patients who cannot undergo bone marrow transplantation. Stabilization or amelioration of somatic disease and improvement of the quality of their lives should be embraced as therapeutic goals.