We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.
One hundred and sixteen patients with proven bronchiectasis diagnosed at least five years previously were studied to determine the clinical outcome, change in pulmonary function, and degree of social disability. Twenty-two patients had died and the mean duration of follow-up in the survivors was 14 years. The patients who died were characterised by a poorer initial ventilatory capacity than the survivors and cor pulmonale was present in 37 % at the time of death. The survivors showed a tendency for improvement in symptoms whether treated surgically or medically. Thirty per cent were better than at diagnosis while only 11 % were worse. Measurements of FEV1 and FVC were made at diagnosis and at review, mild airways obstruction being the predominant abnormality. The change in pulmonary function was expressed as the decline in FEV1 in ml/yr. The decline in FEV1 was no greater than expected in 80 % of patients and in a further 15 % was of the order seen in cigarette smokers with mild airways obstruction. Poor ventilatory capacity was therefore not an important limitation in these patients. Of the survivors 77 % had a good work record with less than two weeks loss of work annually from chest illness. The spouses of all married patients were interviewed at home by a trained social worker. Fifty per cent reported no social problem but 46 % of spouses found the patient's cough distasteful and 29 % of couples had experienced difficulties with normal sexual life. Seven per cent of the patients were severely disabled. While the overall prognosis of our patients was good a minority still have severe physical and social problems as a result of bronchiectasis.
Poster sessions A158Thorax 2012;67(Suppl 2):A1-A204 Introduction and Objectives Cardiac arrhythmias are regularly found in patients with COPD, with higher frequencies reported during exacerbations. We wished to examine the impact of tachycardia and new onset atrial fibrillation (AF) on long term outcome in patients hospitalised with a COPD exacerbation.
Introduction. Although bronchiectasis particularly affects people 65 years of age, data describing clinical characteristics of the disease in this population are lacking. This study aimed at evaluating bronchiectasis features in older adults and elderly, along with their clinical outcomes.Methods. This was a secondary analysis of six European databases of prospectively enrolled adult outpatients with bronchiectasis. Bronchiectasis characteristics were compared across three study groups: younger adults (18-65 years), older adults (66-75 years), and elderly (and >76 years). 3-year mortality was the primary study outcome.Results. Among 1,258 patients enrolled (median age: 66 years; 42.5% males), 50.9% were >65 years and 19.1 >75 years old. Elderly patients were more comorbid, had worse quality of life and died more frequently than the others. Differences were detected among the three study groups with regard to neither the etiology nor the severity of bronchiectasis, nor the prevalence of chronic infection with P. aeruginosa. In multivariate regression model, age (OR: 1.05; p-value: <0.0001), low BMI (OR: 2.63; p-value: 0.02), previous hospitalizations (OR: 2.06; p-value: 0.006), and decreasing FEV1 (OR: 1.02; p-value: 0.001) were independent predictors of 3-year mortality, after adjustment for covariates. Conclusion.Bronchiectasis does not substantially differ across age groups. Poor outcomes in elderly patients with bronchiectasis might be directly related to individual's frailty that should be further investigated in clinical studies.were used as appropriate. The association between 3-year mortality and collected variables was evaluated using uni-and multi-variate logistic regressions reporting odds ratios (OR) and 95% confidence intervals [CI]. Age and m-BSI scores were divided in tertiles, while CCI score was dichotomized (i.e., <1 vs. >2), according to their distribution. The covariates were chosen with a priori-selection based on previous research and clinical rationale (i.e., independent association with mortality in elderly patients with respiratory diseases). The calculated p-values were twotailed, with values less than 0.05 considered statistically significant.
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