Rapidly progressive lung disease in a patient with cystic fibrosis on long-term azithromycin: possible role of mycoplasma infection.

Macrolides is effective therapy in patients with cystic fibrosis (CF). We describe a girl with CF given long-term azithromycin who died of rapidly progressive lung disease. She was found to have rising titers of mycoplasma serology, suggesting a possible causative role of a resistant mycoplasma infection. Mycoplasma infection should be considered in CF patients who are deteriorating, even if they are being treated with macrolides, to which these organisms are usually susceptible.

Microbiological identification in cystic fibrosis patients with CFTR I1234V mutation.

Recurrent and chronic bacterial pulmonary infection is the major cause of morbidity and mortality in cystic fibrosis (CF). Over 6 months, 72 sputa or oropharyngeal samples were examined from 36 Arab Bedouin CF patients attending Hamad General Hospital, Doha, Qatar. More than 100 pathogens were isolated, mostly Haemophilus influenzae, Staphylococcus aureus and Pseudomonas aeruginosa. Unusual pathogens included Stenotrophomonas maltophilia, Acaligenes xylosoxidans and Mycobacterium abscessus. It is concluded that microbiological biodiversity in the lower airways of CF patients continues to be underestimated and that CF patients harbouring mucoid strains of P. aeruginosa are at a higher risk of acquiring more unusual organisms and probably have a worse prognosis.

Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.

An Egyptian infant with the common CFTR mutation N1303K in exon 21 developed alkalosis, electrolyte disturbance, and pancreas insufficiency. We emphasized the need to consider the possibility of cystic fibrosis (CF) in the Arab world. The frequency of N1303K mutation in the Middle East and its distribution are both reviewed.

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

AIM: To describe the clinical spectrum of anomalies of a new type of Ehlers-Danlos syndrome in 32 patients from a large inter-related extended family in Qatar. METHODS: Among the 32 patients (from 22 families), there were 6 affected pairs of siblings and 2 families with 3 affected siblings. The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4 y). RESULTS: Anomalies included a variable degree of skin hyperextensibility, hypermobility of small and large joints, and tortuous systemic arteries. Peculiar facial features included epicanthic folds, flat saggy cheeks, elongated faces and micrognathia. The combination of an elongated aortic arch and tortuous brachiocephalic arteries was seen in 30 patients (93.8%), aneurysm of the ascending aorta in 3 patients (9.4%), bifid pulmonary artery in 27 patients (84.4%) and multiple severe peripheral stenosis of the right and/or left pulmonary artery in 7 patients (21.9%). A prominent aortic knuckle was observed on the chest roentgenograms of 30 patients (93.8%); inguinal hernia in 11 patients (34%), diaphragmatic hernia and/or hiatus hernia in 7 patients (21.9%); and laryngo-tracheomalacia in 2 patients (6.3%). Generalized muscle hypotonia was found in 15 neonates (46.9%). Parental consanguinity involved in all the patients was traced to a common ancestor from a large Bedouin tribe in Qatar. These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers-Danlos syndrome and other connective tissue disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was excluded by using specific DNA markers, confirming the uniqueness of this disorder. CONCLUSION: The study describes a large cohort of patients from the same closely related family, sharing peculiar dysmorphisim and consistent radiological and echocardiographic features different from known types of Ehlers-Danlos syndrome. As known loci involved in Ehlers-Danlos syndrome and other connective tissue disorders were excluded by specific DNA markers, this appears to be a new type of Ehlers-Danlos syndrome or even a new syndrome.

Cystic fibrosis in a child from Syria.

We describe a Syrian child with typical features of severe cystic fibrosis (CF) phenotype and a positive sweat test. DNA analysis confirmed homozygosity for the delta F508 mutation on chromosome 7. This report stresses the need to draw attention to and consider CF in Arab populations. The frequency and distribution of delta F508 in the Middle East are reviewed.

Recurrent milk aspiration produces changes in airway mechanics, lung eosinophilia, and goblet cell hyperplasia in a murine model.

Recurrent aspiration of milk into the respiratory tract has been implicated in the pathogenesis of a variety of inflammatory lung disorders including asthma. However, the lack of animal models of aspiration-induced lung injury has limited our knowledge of the pathophysiological characteristics of this disorder. This study was designed to evaluate the effects of recurrent milk aspiration on airway mechanics and lung cells in a murine model. Under light anesthesia, BALB/c mice received daily intranasal instillations of whole cow's milk (n = 7) or sterile physiologic saline (n = 9) for 10 d. Respiratory system resistance (Rrs) and dynamic elastance (Edyn,rs) were measured in anesthetized, tracheotomized, paralyzed and mechanically ventilated mice 24 h after the last aspiration of milk. Rrs and Edyn,rs were derived from transrespiratory and plethysmographic pressure signals. In addition, airway responses to increasing concentrations of i.v. methacholine (Mch) were determined. Airway responses were measured in terms of PD(100) (dose of Mch causing 100% increase from baseline Rrs) and Rrs,max (% increase from baseline at the maximal plateau response) and expressed as % control (mean +/- SE). We found recurrent milk aspiration did not affect Edyn and baseline Rrs values. However, airway responses to Mch were increased after milk aspiration when compared with control mice. These changes in airway mechanics were associated with an increased percentage of lymphocytes and eosinophils in the bronchoalveolar lavage, mucus production, and lung inflammation. Our findings suggest that recurrent milk aspiration leads to alterations in airway function, lung eosinophilia, and goblet cell hyperplasia in a murine model.

Inhaled morphine to relieve dyspnea in advanced cystic fibrosis lung disease.

Inhaled morphine has been used to treat dyspnea in a variety of clinical settings. There are, however, no reports of its use in treating patients with end-stage lung disease due to cystic fibrosis (CF). We report on the use of inhaled morphine sulfate in a 13-year-old boy with CF, advanced lung disease, and acute respiratory failure. Therapy was effective in reducing his subjective feeling of air hunger and improving his BORG score. His sole significant adverse effect was headache after 2 days of treatment at 4-hourly intervals.