Practical approach to the gastrointestinal manifestations of cystic fibrosis.

Cystic fibrosis (CF) is the most common, life-shortening, genetic illness affecting children in Australia and New Zealand. The genetic abnormality results in abnormal anion transport across the apical membrane of epithelial cells in a number of organs, including the lungs, gastrointestinal tract, liver and genito-urinary tract. Thus, CF is a multi-system disorder that requires a multi-disciplinary approach. Respiratory disease is the predominant cause of both morbidity and mortality in patients with CF. However, there are significant and clinically relevant gastrointestinal, liver, pancreatic and nutritional manifestations that must be detected and managed in a timely and structured manner. The aim of this review is to provide evidence-based information and clinical algorithms to guide the nutritional and gastrointestinal management of patients with CF.

Achieving normal pulmonary function following tracheoplasty in infancy.

Infant long-segment congenital tracheal stenosis (LTS) is rare and presents a challenging clinical scenario. We describe the management of a child who required extracorporeal membrane oxygenation following a respiratory arrest and underwent slide tracheoplasty in infancy for severe LTS and required repeated bronchoscopic reinterventions for recurrent tracheal granulations. At 9 years of age, the child has normal pulmonary function testing and a normal exercise tolerance.

Clinical Utility of Bronchoalveolar Lavage in Pediatric Oncology Patients.

BACKGROUND: Lower airway sampling is important in the assessment of lower respiratory tract infection in children with cancer or posthematopoietic stem cell transplant and can be done via bronchoalveolar lavage (BAL). Clinicians can struggle with balancing the benefits of BAL against the risks. This study aimed to define the diagnostic and clinical utility of BAL in this population. METHODS: A single-center retrospective review of BAL performed in children with cancer or posthematopoietic stem cell transplant. Data extracted included demographics, BAL method and results and antimicrobial treatment. Variables significantly associated with diagnostic yield, diagnostic impact (confirmation or exclusion of infection), and clinical impact (any change in antimicrobial or nonantimicrobial therapy) were assessed in both univariate and multivariate analysis. RESULTS: Seventy-three BAL episodes were included. In 26 (35.6%) episodes, a pathogen was identified on BAL. Forty-nine (67%) BAL episodes had a diagnostic impact and 15 (21%) had a clinical impact. Late BAL (>72 hours) compared with early BAL (odds ratio 3.27; 95% CI: 1.03-10.86), and flexible bronchoscopy compared with nonbronchoscopic lavage (odds ratio 6.10; 95% CI: 1.90-24.0), were more likely to have a diagnostic impact on multivariate analysis. No associations were found for clinical impact. CONCLUSIONS: One-third of BAL episodes identified a pathogen, two-thirds had a diagnostic impact, and almost a quarter of episodes impacted antimicrobial prescribing. The method and timing of BAL may be important, with flexible bronchoscopy 6-fold more likely and late BAL 3-fold more likely to have a diagnostic impact.

Investigating transmission of Mycobacterium abscessus amongst children in an Australian cystic fibrosis centre.

BACKGROUND: Mycobacterium abscessus is an emerging pathogen in cystic fibrosis (CF) lung disease. Hospital transmission of M. abscessus has been described. This paper details the investigation into possible cross-transmission of M. abscessus locally at our paediatric hospital CF centre, and the subsequent infection control response. METHODS: Whole genome sequencing (WGS) of M. abscessus respiratory isolates with epidemiological linkage analysis using hospital electronic medical records. RESULTS: 6.7% (22/328) of CF patients had M. abscessus isolated from respiratory specimens. WGS revealed a cluster of three patients with genomically related isolates that differed by <7 single nucleotide polymorphisms (SNPs), suggesting a shared recent ancestor and probable cross-transmission. Epidemiological investigation revealed multiple potential crossovers between patients with genomically similar M. abscessus isolates. CONCLUSIONS: Cross-infection of NTM occurs in CF hospital patients. Hospital infection control practices should be upgraded to reflect this. Consensus is needed between centres.

South Australian school teachers' perceptions of occupational therapy reports.

BACKGROUND/AIM: The qualitative research reported here investigated the perceptions of primary school teachers regarding the usefulness of occupational therapy reports from the Flinders Medical Centre. The reports included either recommendations alone or in conjunction with written programs for the students. METHODS: This qualitative descriptive study employed in-depth semistructured interviews to gather the perspectives of four school teachers from primary schools in the southern suburbs of Adelaide. The interviews were audiotaped, transcribed, and analysed using a thematic inductive approach. RESULTS: Four themes emerged from the data in relation to teachers' perceptions of the reports: (i) Understandable but not always useful; (ii) It's important ... we can't do it all; (iii) We never actually speak; and (iv) It's probably impossible but ... in an ideal world. CONCLUSIONS: The research findings provide an insight into the professional relationship between education and health professionals in the presence of minimal collaboration. The participants in this study described the occupational therapy reports as useful but they all wanted a higher level of interaction with therapists. The participants also gave suggestions for improving the current procedure to increase collaboration between health and education professionals. Such improvements could enhance educational outcomes for South Australian children with a disability.

Elimination of Australian epidemic strain (AES1) pseudomonas aeruginosa in a pediatric cystic fibrosis center.

INTRODUCTION: In this cohort study spanning an 18-year period, we evaluated the prevalence and associated mortality rate of epidemic strains of pseudomonas aeruginosa (PsA), especially Australian Epidemic Strain Type 1 (AES1), in a pediatric cystic fibrosis center practicing cohort segregation and early PsA eradication. METHODS: Cohort segregation was introduced in January 2000. PsA clonal strain was determined by pulse-field-gel-electrophoresis (PFGE) at the time of routine collection of airway specimens. Children with PsA underwent eradication treatment with anti-pseudomonal antibiotics over 2-3 months. We analyzed changes in prevalence and mortality from 1999 to 2016. RESULTS: The prevalence of AES1 declined from 69 (20%) in 1999 to 16 (5.4%) in 2006, to 1 (0.4%) in 2016. The prevalence of PsA overall diminished less over the same period, from 128 (37%) patients in 1999 to 57 (23%) in 2016. New acquisition of AES1 became less common over time, with no new cases identified from 2011. Those who contracted AES1 had a greater risk of death than those who did not (Odds Ratio 4.9, 95%CI 2.5-9.6). Patients with other AES PsA types were uncommon (AES2 n = 5, AES5 n = 2, AES14 n = 3, AES19 n = 1). CONCLUSIONS: Cohort segregation was associated with reduction in AES1 prevalence ascertained by PFGE surveillance for patients in a single large pediatric cystic fibrosis center. Other alterations in practice such as early eradication treatment may also have contributed to reduced PsA prevalence. These factors combined with the transition of chronically infected patients over time to adult centers has eliminated AES1 from our clinic, with an accompanying mortality decrease.

Pulmonary sarcoidosis in a preschool patient.

Sarcoidosis is a rare disease, especially in the preschool age group where it usually presents with eye, joint, and skin involvement sparing the lungs. Multiple treatment regimes have been described with oral prednisolone being the usual first line treatment. We describe a case of a 4-year-old boy presenting with pulmonary sarcoidosis with no other organ involvement. The child was successfully managed with pulse intravenous methylprednisolone followed by oral prednisolone and has had a good outcome. This case reports a rare presentation of preschool sarcoidosis as well as the novel and successful use of pulse methylprednisolone in paediatric pulmonary sarcoidosis.

Geographical differences in first acquisition of Pseudomonas aeruginosa in cystic fibrosis.

RATIONALE: Risk of infection with Pseudomonas aeruginosa in cystic fibrosis (CF) may be associated with environmental factors. OBJECTIVES: To determine whether residential location is associated with risk of first acquisition of P. aeruginosa. METHODS: We performed bronchoalveolar lavage and upper airway cultures in children newly diagnosed with CF to identify infection with P. aeruginosa during infancy and early childhood. Children were assessed according to their residence in a regional or metropolitan area. Multilocus sequence typing was used to determine P. aeruginosa genotype. An environmental questionnaire was also administered. MEASUREMENTS AND MAIN RESULTS: A total of 105 of 120 (87.5%) infants diagnosed with CF were included in this study. Diagnosis in 65 infants (61.9%) followed newborn screening at mean age of 4.6 weeks. Sixty subjects (57.1%) were homozygous ΔF508, and 47 (44.8%) were female. Fifty-five (52.3%) infants were regional, of whom 26 (47.3%), compared with 9 of 50 (18.0%) metropolitan children, acquired infection with P. aeruginosa (odds ratio, 4.084; 95% confidence interval, 1.55-11.30). Age at acquisition was similar (regional: median, 2.31 yr; range, 0.27-5.96 yr; metropolitan: median, 3.10 yr, range, 0.89-3.70 yr). Strain typing identified P. aeruginosa genotypes often encountered in different ecological settings and little evidence of cross-infection. Ninety questionnaires (85.7%) were completed. Those who acquired P. aeruginosa were more likely to be living in a household that used water sprinkler systems (P = 0.032), but no differences were identified to explain increased risk of acquisition of P. aeruginosa in regional children. CONCLUSIONS: Geographical difference in residence of children with CF was associated with increased risk of first acquisition of P. aeruginosa, usually with strains associated with the environment rather than with cross-infection.

Lung function in preschool children with a history of wheezing measured by forced oscillation and plethysmographic specific airway resistance.

RATIONALE: Wheezing is common in preschool children, but objective evidence for airway obstruction and its reversibility are rarely available in clinical practice. We assessed whether abnormalities of lung function and bronchodilator response can be detected in preschool children using the forced oscillation technique and measurements of specific airway resistance. METHODS: Fifty-nine children with a history of wheeze and 24 healthy controls aged 3-6 years were recruited. Resistance and reactance at 6 and 8 Hz (Rrs6, Rrs8, Xrs6 and Xrs8, respectively) were measured using the forced oscillation technique and specific airway resistance was measured in a plethysmograph. z-Scores were calculated from published reference data. Tests were repeated 15 min after 400 mcg salbutamol. Bronchodilator response was expressed as the log-transformed ratio of postbronchodilator/prebronchodilator values. RESULTS: Technically acceptable measurements using the forced oscillation technique were obtained in n = 77 (93%) of children and in n = 56 (68%) using plethysmography. There was no significant difference in baseline lung function or bronchodilator response, assessed by either technique, between those with a history of wheeze and healthy controls. CONCLUSION: Measurement of lung function is feasible in preschool children, but neither of these techniques was able to identify diminished lung function or reversibility to bronchodilator in children with a history of wheeze.

Identifying peroxidases and their oxidants in the early pathology of cystic fibrosis.

We aimed to determine whether myeloperoxidase (MPO) is the main peroxidase present in the airways of children with cystic fibrosis (CF) and to assess which oxidants it produces and whether they are associated with clinical features of CF. Children with CF (n=54) and without CF (n=16) underwent bronchoscopy and bronchoalveolar lavage (BAL) for assessment of pulmonary infection and inflammation. BAL fluid was analyzed for MPO, halogenated tyrosines as markers of hypohalous acids, thiocyanate, and protein carbonyls. MPO was the only peroxidase detected in BAL samples from children with CF and its concentration was markedly higher than in controls. Levels of 3-chlorotyrosine and 3-bromotyrosine in proteins were higher in the CF group. They correlated with neutrophils and MPO. The concentration of thiocyanate in BAL samples was below 1µM. Protein carbonyl levels correlated with MPO and halogenated tyrosines in patients with CF. Levels of MPO and halogenated tyrosines were higher in children with infections, especially Pseudomonas aeruginosa, and in the presence of respiratory symptoms. They also correlated with the Kanga clinical score. Our findings suggest that MPO produces hypobromous acid as well as hypochlorous acid in the airways of children with CF and that these oxidants are involved in the early pathogenesis of CF.