No abstract

Two different methods for estimating trapped gas volume have been described in the literature. The purpose of this study was to use both of these methods to estimate and compare trapped gas volumes in normal infants and infants with cystic fibrosis (CF). Thirty normal infants and 29 infants with CF, ages 1 month to 3 years, were studied. Pulmonary function tests, including raised volume forced expiratory flows, plethysmographic functional residual capacity (FRC(pleth)), and fractional lung volumes, were measured. Then functional residual capacity was measured by nitrogen washout (FRC(nitrogen)). Following nitrogen washout, lungs were then inflated three times to 30 cm H(2)O, using 100% oxygen. This process was repeated until no further nitrogen could be washed from the lungs. The volume of trapped gas (tg) was calculated from the total additional amounts of nitrogen expired following lung inflations. The difference between FRC(pleth) and FRC(nitrogen) provided a second estimate of trapped gas volume (delta V). Mean tg and delta V values for normal infants were 2.5 +/- 3.5 ml and 15.6 +/- 30.4 ml, respectively. Mean tg and delta V values for infants with CF were 5.8 +/- 7.7 ml and 33.2 +/- 43.8 ml, respectively. Both tg and delta V did not differ significantly between normal infants and infants with CF. Measured following raised volume forced expiratory maneuvers, delta V and tg do not distinguish infants with CF from normal infants as well as do other currently available tests of infant lung function.

The standard Arabic version of the Childhood Asthma Control Test (C-ACT) has never been previously evaluated in Arab countries. We studied its correlation in Arabic speaking children in the United Arab Emirates (UAE), with both the GINA assessment of asthma control and the resulting changes in asthma management. The Arabic C-ACT was completed by the children or by their parents when needed. A GINA based level of asthma control score was assigned by their managing physician. The correlation between the different cut- scores of the C-ACT and GINA were studied. A total of 105 eligible children with asthma (aged between 4 and 11.8 years, 61% boys) were enrolled. The Arabic translated C-ACT had a high reliability (Cronbach alpha 81%) and validity (as it correlated well with the GINA level of control). We found that using it with the traditional cut-score of 19 overestimated the degree of asthma control. Instead, a calculated optimal cut-score of 20 estimated more accurately the level of asthma control as assessed both by the GINA assessment and also by changes in asthma management. The current Arabic version of the C-ACT has a good reliability and validity. By using a single optimal cut-point of 20, it can be used to assess both the level of asthma control and of treatment control. It does not, however, accurately define asthma control when using the originally proposed cut-score of 19. Physicians need to recognise that the C-ACT cut-points may vary in different populations. We suggest that cut-scores of translated versions need to be modified in different geographical settings.

We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

Founder mutations and autosomal recessive (AR) disorders are common in the Arabian Peninsula due to frequent consanguineous marriages. As a result, the pulmonary service at Tawam Hospital (Al Ain, UAE) routinely requests genetic testing for children with persistent (unexplained) respiratory problems. The main purpose of this report was to underscore the usefulness of these tests. Ten children with severe respiratory diseases due to complex genetic findings are described here. Forty‐one variants (six novel) were detected, averaging four per patient (range: 1‐9). Seven (17%) variants were homozygous and 34 (83%) heterozygous; some variants were known to show monoallelic expression. Using binomial probability distribution, the fetal‐risk for having AR disorder(s) as a function of the number of shared variants by a couple ranged from 0.25 (having one shared variant) to 0.9249 (having nine shared variants). In cultures where increased size of homozygous genomic segments is common, children often have multiple variants that could cause complex clinical phenotypes. Identifying pathogenic variants assists in clinical care, family counseling, and disease prevention through genetic screening.