Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.

BACKGROUND: Knowledge about Cystic Fibrosis (CF) in Egypt is very limited. The objective of this study was to screen for CF in Egyptian children with suggestive clinical features and to identify causative genetic mutations. METHODS: Sixty-one patients from the Chest Unit, Cairo University Children's Hospital, Egypt, were included. Subjects presented with persistent or recurrent respiratory symptoms, failure to thrive, diarrhea and/or steatorrhea and unexplained persistent jaundice. Patients were screened using the CF Indicatortrade mark sweat test system (PolyChrome Medical, Inc., Brooklyn Center, MN). A quantitative sweat testing was conducted on 10 of the 12 positive patients. Seven probands and one sibling underwent molecular analysis by direct DNA sequencing of the coding region and of the intronic sequences adjacent to the 27 exons of the CFTR gene. RESULTS: Of 61 patients, 12 (20%) had positive sweat chloride screening. Ten of the 12 patients underwent quantitative sweat testing and were positive. Eight CFTR sequence changes were identified in seven affected probands and two were confirmed in one sibling by direct DNA sequencing. CONCLUSION: The study results suggest that CF is more common in Egypt than previously anticipated. Larger studies are warranted to identify the incidence, molecular basis and clinical pattern of CF in the Egyptian population.

Use of laryngeal mask airway in flexible bronchoscopy in infants and children.

In the past two decades, flexible bronchoscopy (FB) has gained increasing popularity among pediatric pulmonologists. The objective of this study was to review our experience with pediatric flexible bronchoscopy over the past 15 years, with special focus on route of bronchoscopy. This is a retrospective study. We reviewed our pediatric FB procedures performed at the University of Michigan, Mott Children's Hospital, from 1988-2003. The study included 1,947 procedures in 1,548 patients, with a mean of 1.3 procedures/patient. The male:female ratio was 1.66:1, and age was 4.9 +/- 5.6 years (mean +/- SD). Patients <2 years of age represented 46.6% of the study population. The laryngeal mask airway (LMA) was the most common route for flexible bronchoscopy in children 2 years of age and above. Complication rates were lower with the use of the LMA (1.9%) compared to the nasal route (3.5%). Stridor was the most common indication in the age group <2 years (20.8%), while persistent pulmonary infiltrates were more common in the older age groups (32.2-37%). Laryngomalacia was the most common finding in patients with stridor (31.5%), while inflammatory changes were more common with other indications. Procedure-related complications were reported in 2.3% of procedures. Bronchoalveolar lavage (BAL) samples were obtained and analyzed in 51.2% of FB procedures (n=1,000), of which 19.4% yielded positive microbiology cultures. In conclusion, FB is a safe procedure in pediatrics. Children less than 7 years of age represent the majority of FB subjects. The LMA offered a lower rate of procedure-related complications when compared to the nasal route or endotracheal tube. It also reduced procedure time and anesthesia time.