Biomedical subjects
M X FitzGerald
Publications and source records attributed to M X FitzGerald.
Deletion delta F508 and clinical expression of cystic fibrosis-related liver disease.
A study of liver function in 108 adult cystic fibrosis patients showed that 20 had established liver disease, and that these had significantly better pulmonary function than the subgroup without liver disease. The relative risk of liver disease for homozygotes vs heterozygotes was 2:1 in our series. Four of the liver patients had a sibling with CF, but three of the sibships were discordant for liver disease. Environmental or genetic factors other than the deletion Delta F508 may influence the development of cystic fibrosis-related liver disease.
Bacteraemia and fungaemia in adults with cystic fibrosis.
The incidence of bacteraemia and fungaemia was determined in 29 adults with cystic fibrosis (CF) during 50 consecutive admissions to hospital for management of infective exacerbations of pulmonary disease. Blood was drawn for aerobic, anaerobic and fungal cultures from all patients who were febrile on admission or who became febrile during treatment. The population included eight patients who had indwelling venous access systems in situ. The overall incidence of positive blood cultures in febrile patients was 3.5% [95% confidence interval (C.I.), 1-6%]. We recorded one case of Pseudomonas aeruginosa bacteraemia and two cases of Candida albicans fungaemia. The patient with P. aeruginosa bacteraemia died 5 days after isolation of the organism from her blood. The two patients with C. albicans bacteraemia had totally implantable venous access systems (TIVAS) in situ and both recovered following appropriate therapy. These observations suggest that bacteraemia is rare in patients with CF but that there is a significant risk of fungaemia in a susceptible minority. The implications of these findings, as they relate to management of infections and care of indwelling catheters in such patients, are discussed.
Haemopericardium and cardiac tamponade complicating pulmonary lymphangioleiomyomatosis.
A case of pulmonary lymphangioleiomyomatosis complicated by haemopericardium and cardiac tamponade is reported. This was successfully managed by creating a subdiaphragmatic extraperitoneal window.
"Slurry lung": a report of three cases.
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Comparison of oxygen desaturation during sleep and exercise in patients with cystic fibrosis.
Patients with cystic fibrosis (CF) desaturate during sleep and during exercise but by different mechanisms. To determine the need for supplemental oxygen, many centers measure resting and exercise arterial oxygen saturation (SaO2). We examined the associations among resting, sleep, and exercise SaO2 to ascertain the validity of this approach. We studied 21 adult and adolescent CF patients, eight of whom were hypoxemic (SaO2 less than 95 percent; group A) and 13 of whom were nonhypoxemic (SaO2 greater than or equal to 95 percent; group B) by overnight oximetry and treadmill exercise testing. The whole group desaturated more during sleep than during exercise, the change in SaO2 being 10.59 +/- 8.35 vs 6.25 +/- 4.44 (p less than 0.002). Group B desaturated significantly more during sleep than during exercise, with a reduction in SaO2 of 7.9 +/- 3.3 vs 3.3 +/- 1.49 (p less than 0.05). Group A desaturated more during exercise than group B, with a reduction of 11 +/- 3.2 vs 3.3 +/- 1.5 (p less than 0.001). Despite a strong correlation between awake SaO2 and mean sleep SaO2 (r = 0.68; p less than 0.001), minimum sleep SaO2 (r = 0.55; p less than 0.01), and minimum exercise SaO2 (r = 0.92; p less than 0.001), there was no correlation between awake SaO2 and sleep-related desaturation or between exercise- and sleep-related desaturation. In conclusion, clinically significant oxygen desaturation during sleep may be missed unless specifically checked in CF patients, and awake and exercise SaO2 may not give an indication of the degree of sleep-related desaturation.
Analysis of patients lost to follow up at a sarcoid clinic.
An analysis was made of an outpatient population attending a specialized sarcoidosis clinic in order to identify and quantify the number of patients who had become lost to follow up. In addition we wished to elucidate the reasons why they had not returned and to determine the consequences, if any, of not having continuing medical surveillance. Ninety-four patients were identified as being lost to follow up from our specialized sarcoidosis clinic and were invited to return for review. Forty-six patients (49%) responded and were evaluated. The main reason for clinic non-attendance given by 91% (42/46) of the clinic reattenders was that they were asymptomatic. Comparing this group with a cohort of 50 patients who are regular clinic attenders, we found that the lost to follow up patients had a strikingly more benign disease profile. In spite of this, analysis of this respondent group revealed some evidence of continuing disease activity or progression, with 37% (17/46) of the group fulfilling at least one of our defined criteria for disease progression. While none of these patients warranted the immediate addition of corticosteroid medication at their first recall visit, their continuing disease activity warrants close supervision at a specialized sarcoidosis clinic. We conclude that educational strategies require to be developed in order to minimize clinic non-attendance by patients with sarcoid. Furthermore more positive action needs to be taken by clinicians in attracting those patients, who become lost to follow up, to return for clinic review.
Meconium ileus equivalent in association with nebulised ipratropium bromide in cystic fibrosis.
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Frequency of deletion 508 among Irish cystic fibrosis patients.
We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries.
Pseudomonas colonization in cystic fibrosis: lack of correlation with secretion of ABO blood group antigens.
In cystic fibrosis, a majority of patients develop persistent lifelong respiratory tract colonisation with pseudomonas aeruginosa while a minority do not appear to become colonised. There is some evidence that non-secretion of ABO Blood Group antigens into body secretions is a marker for susceptibility to certain gram negative infections. Therefore, we studied 47 adult patients with cystic fibrosis to identify an association, if any, between secretor status and the presence or absence of pseudomonas aeruginosa in their sputum. Overall, we found no difference between the prevalence of non-secretors in our patient group and in the normal population. Furthermore, there was no association between secretor status and presence or absence of pseudomonas aeruginosa in sputum. We conclude that secretor status is unlikely to play a major role in susceptibility to pseudomonas aeruginosa infection in patients with cystic fibrosis.
Talc lung in a drug abuser.
We report a case of intravenous talcosis in a 36 year old woman. Although she initially denied drug abuse clinical suspicion was aroused by the finding of obliterated peripheral veins, a pleural rub and a peripheral nodular lesion on chest x-ray. Diagnosis of intravenous talcosis was confirmed by finding birefringent particles on transbronchial biopsy. Confronted with this evidence the patient admitted long-standing drug abuse, including intravenous injection of crushed methadone tablets which contain talc filler.
Pseudomonas aeruginosa septicaemia in a young adult with cystic fibrosis.
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Skin reactivity to atypical mycobacteria in cystic fibrosis.
Atypical mycobacterial disease has been described in a small number of patients with cystic fibrosis. Apart from one uncontrolled study, there is little information regarding atypical mycobacterial skin reactivity in this group of patients. We evaluated delayed cutaneous hypersensitivity to purified extracts of Mycobacterium avium, Mycobacterium intracellular, Mycobacterium kansasii and Mycobacterium bovis in 23 healthy controls and 43 adult and adolescent patients with cystic fibrosis. Fifteen of the cystic fibrosis group were receiving regular corticosteroids. Additionally, direct smear examination and Lowenstein Jensen culture were performed on sputum from the cystic fibrosis group. The prevalence of positive skin reactions was similar in the group with cystic fibrosis (30%) and in the control group (57%). Subgroup analysis showed that those cystic fibrosis patients receiving corticosteroids had a markedly lower prevalence of positive reactions (7%) compared to controls (P less than 0.01). When this subgroup was excluded from analysis, the prevalence of positive skin reactions among patients with cystic fibrosis was 43%. In the prospective sputum bacteriology study, one of the 43 cases grew Mycobacterium avium-intracellulare and had clinical and radiological evidence of this disease. Of note, this patient showed positive skin tests to all four mycobacterial species tested. Our data show no difference in the prevalence rate of positive skin reactions to atypical mycobacterial antigens between a control population and an adult cystic fibrosis population. In addition, the predictive value of skin testing is low in cystic fibrosis due to the high prevalence of cross-reactivity between different mycobacterial species and the high prevalence of anergy among those patients with advanced disease receiving treatment with corticosteroids.
Bronchoalveolar lavage in patients with mild and severe rheumatoid lung disease.
The reported prevalence of interstitial lung disease in patients with rheumatoid arthritis has varied from 10% to 50%, yet less than 5% of patients with arthritis develop severe fibrosing interstitial lung disease. This suggests that subclinical disease may not always presage progressive disease. Bronchoalveolar lavage fluid from patients with rheumatoid arthritis and either clinically evident interstitial lung disease or subclinical disease was examined for the presence of factors with a putative role in the development of interstitial fibrosis. Patients with subclinical disease were identified by prospective radiographic and lung function screening of 93 patients with rheumatoid arthritis. Fourteen patients were identified in this manner and an association between subclinical disease and smoking history was noted. Eleven patients with established interstitial lung disease had increased neutrophils (p less than 0.05), collagenase, and type III procollagen N terminal peptide levels (p less than 0.01) in the bronchoalveolar lavage fluid. Preliminary characterisation of the bronchoalveolar lavage collagenase suggested that it originated from neutrophils. Ten patients with subclinical interstitial lung disease underwent bronchoalveolar lavage. Of these, one had increased neutrophils and two had increased collagenase concentrations--abnormalities associated with advanced interstitial lung disease and a poor prognosis. These results suggest that in arthritis patients with evidence of subclinical pulmonary interstitial disease bronchoalveolar lavage might be useful in identifying those who may require careful monitoring in the hope that early treatment will prevent severe fibrosis.
Captopril and lymphocytic alveolitis.
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Pulmonary alveolar proteinosis: primary and secondary, a report of three cases.
Three cases of the rare disorder pulmonary alveolar proteinosis (PAP) presented to our unit over the past thirteen years. Two of the patients conformed to the classical description of idiopathic or "primary" PAP. One patient appeared to have co-existing extrinsic allergic alveolitis with "secondary" PAP, an association not previously described. This patient has required continued steroid therapy, a mode of treatment usually contraindicated in PAP.
Type 3 procollagen peptide in bronchoalveolar lavage fluid. Poor indicator of course and prognosis in sarcoidosis.
To investigate the role of bronchoalveolar lavage type 3 procollagen peptide as a prognostic indicator in sarcoidosis, we measured type 3 procollagen N-terminal peptide levels in lavage fluids from 84 sarcoidosis patients and monitored disease progress in these patients for a period of 12 months. Lavage procollagen peptide levels were significantly elevated in sarcoidosis patients compared to control subjects (p less than 0.001). No association was observed between lavage type 3 procollagen peptide and disease severity, as assessed by lung function tests. Follow-up monitoring of patients failed to demonstrate any relationship between subsequent functional deterioration and initial lavage type 3 procollagen peptide. These results suggest that elevated lavage type 3 procollagen peptide concentrations in sarcoidosis may reflect increased type 3 collagen synthesis associated with the inflammatory process rather than signal an early event in the development of chronic disease.