Catalogue of inherited disorders found among the Irish Traveller population.

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios. Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population. Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers. Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication. Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group.

Respiratory morbidity, healthcare utilisation and cost of care at school age related to home oxygen status.

UNLABELLED: The aim of the study was to determine whether respiratory morbidity, lung function, healthcare utilisation and cost of care at school age in prematurely born children who had bronchopulmonary dysplasia (BPD) were influenced by use of supplementary oxygen at home after neonatal intensive care unit discharge. Healthcare utilisation and cost of care in years 5 to 7 and respiratory morbidity (parent-completed respiratory questionnaire) and lung function measurements at least at age 8 years were assessed in 160 children. Their median gestational age was 27 (range 22-31) weeks and 65 of them had received supplementary oxygen when discharged home (home oxygen group). The home oxygen group had more outpatient attendances (p = 0.0168) and respiratory-related outpatient attendances (p = 0.0032) with greater related cost of care (p = 0.0186 and p = 0.0030, respectively), their cost of care for prescriptions (p = 0.0409) and total respiratory related cost of care (p = 0.0354) were significantly greater. There were, however, no significant differences in cough, wheeze or lung function results between the two groups. CONCLUSION: Prematurely born children who had BPD and supplementary oxygen at home after discharge had increased healthcare utilisation at school age. Whether such children require greater follow, in the absence of excess respiratory morbidity, merits investigation.

The effects of a monoclonal antibody directed against tumor necrosis factor-alpha in asthma.

RATIONALE: Neutralization of tumor necrosis factor-alpha (TNF-alpha) is an effective antiinflammatory therapy for several chronic inflammatory diseases. METHODS AND OBJECTIVES: We undertook a double-blind, placebo-controlled, parallel-group design study in 38 patients with moderate asthma treated with inhaled corticosteroids but symptomatic during a run-in phase. Infliximab (5 mg/kg) or placebo was administered by intravenous infusion at Weeks 0, 2, and 6. We assessed clinical response by monitoring lung function, symptoms, and inhaled beta(2)-agonist usage using hand-held electronic devices. RESULTS: The primary endpoint, change in morning PEF at Days 50-56 compared with the last 7 d of the run-in, was not significantly different on treatment. However, infliximab was associated with a decrease in mean diurnal variation of PEF at Week 8 (p = 0.02; 95% confidence interval [CI], -8.1 to -0.72). Furthermore, there was a decrease in the number of patients with exacerbations of asthma (p = 0.01; 95% CI, 4.4 to 52.7) and an increased probability of freedom from exacerbation with time (p = 0.03) in patients on infliximab (n = 14) compared with placebo (n = 18). In addition, infliximab decreased levels of TNF-alpha (p = 0.01) and other cytokines in sputum supernatants. There were no serious adverse events related to the study agent. CONCLUSIONS: Treatment with infliximab was well tolerated and caused a decrease in the number of patients with exacerbations in symptomatic moderate asthma. The promising preliminary findings underscore the need to evaluate therapy directed against TNF-alpha in larger trials enrolling patients with more severe asthma.

High versus restricted use of home oxygen therapy, health care utilisation and the cost of care in chronic lung disease infants.

UNLABELLED: Use of home oxygen therapy for prematurely born infants with chronic lung disease (CLD) can facilitate early discharge, but affected infants might require more readmissions. Our aim was to determine if health care utilisation and associated costs in the first 2 years were greater in centres with a high compared to centres with restricted use of home oxygen therapy. A retrospective review of the hospital and general practitioner (GP) medical records of 235 infants with CLD (median gestational age 27 weeks; range 22-33 weeks) was performed to note their readmissions, outpatient attendances, community service referrals and cost of care in the first 2 years after birth. A total of 76 infants (64%) in the high use centres and 12 (10%) in the restricted use centres were discharged home on oxygen. Infants in the high use centres were discharged home from neonatal care at a younger age (median 37.7 versus 39.9 weeks; P<0.001), but subsequently had similar numbers of inpatient events, and less GP (P =0.012) and community care (P < 0.001) contacts, although their duration of home oxygen use was longer (P < 0.001). The post-discharge costs were similar in the two types of centre, but the neonatal costs (P < 0.0001) and total cost of care per infant over the first 2 years (P < 0.0001) were lower in the high use centres. CONCLUSION: Early discharge and high use of home oxygen therapy was not associated with an increased cost of care or increased morbidity.