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Biomedical subjects

J Bourke

Publications and source records attributed to J Bourke.

At least 19 recordsLinked to original sources
PubMed2003

The phenotype of limb-girdle muscular dystrophy type 2I.

BACKGROUND: Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C). OBJECTIVE: To define the phenotype in LGMD2I. METHODS: The authors assessed 16 patients from 14 families with FKRP gene mutations and LGMD and collected the results of mutation analysis, protein studies, and respiratory and cardiac investigations. RESULTS: Thirteen patients, most with adult presentation, were homozygous for the common C826A mutation in FKRP. The three other cases were compound heterozygotes for C826A and two of them presented in childhood, with more progressive disease. The pattern of muscle involvement, frequently including calf hypertrophy, was similar to dystrophinopathy. Complications in patients with LGMD2I were common and sometimes out of proportion to the skeletal muscle involvement. Six patients had cardiac involvement, and 10 had respiratory impairment: five required nocturnal respiratory support. All patients had serum creatine kinase at least 5 to 70 times normal. The most consistent protein abnormality found on muscle biopsy was a reduction of laminin alpha2 immunolabeling, either on muscle sections or immunoblotting alone. CONCLUSIONS: LGMD2I due to FKRP mutations appears to be a relatively common cause of LGMD, with respiratory and cardiac failure as prominent complications.

Adolescent↗
PubMed2003

Clinical and electrophysiological differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia.

AIMS: Radiofrequency catheter ablation is considered first line treatment for symptomatic patients with right ventricular outflow tract tachycardia (RVOT). The role of ablation in arrhythmogenic right ventricular dysplasia (ARVD) is more limited. As such, differentiating between the two conditions is essential. METHODS AND RESULTS: This study compared non-invasive findings, magnetic resonance images (MRI), invasive electrophysiological characteristics, results of ablation and long-term outcome in 50 consecutive patients with RVOT (33) or ARVD (17). Structural abnormalities were uniform in the ARVD group; in addition 18 (54%) of the RVOT tachycardia group had MRI abnormalities. At electrophysiological study the tachycardia in the ARVD group displayed features of re-entry in over 80%, but behaved with a triggered automatic basis in 97% with RVOT. Ablation was complete or partial success in 12 (71%) patients with ARVD and ventricular tachycardia (VT) recurred in eight (48%). In the RVOT patients, ablation was a complete success in 97% with recurrent VT in 6%. Long-term success in the RVOT patients was 95% in both patients with and without MRI abnormalities. CONCLUSIONS: Electrophysiological characterization can differentiate ARVD from RVOT. The finding of abnormalities on MRI does not have any bearing on arrhythmia mechanism, acute or long-term success of RFA.

Adolescent↗
PubMed2002

Detecting and reducing adverse events in an Australian rural base hospital emergency department using medical record screening and review.

OBJECTIVE: To determine if retrospective medical record screening and clinical review followed by appropriate action can effectively and efficiently detect and reduce adverse events in an emergency department. METHOD AND PARTICIPANTS: The medical records of 20 050 patients who attended the emergency department over a two year period were screened for adverse events using five general patient outcome criteria. Records that screened positive were reviewed by the hospital's clinical risk manager. If an adverse event was detected, the record was also reviewed by the director of emergency. For the first three months details of adverse events were recorded to determine a baseline adverse event rate, but no further action was taken. When an adverse event was found in the remaining 21 months, further analysis and recommendations for action to prevent a recurrence were made to relevant hospital staff. SETTING: A rural base hospital in the Wimmera region of Victoria, Australia between October 1997 and September 1999. RESULTS: Of all the patient attendances 573 (2.85%) were screened positive for one or more criteria. An adverse event was confirmed in 250 patient attendances (1.24% of all attendances). Of the adverse occurrences, 81 (32.4%) were determined to be of major severity and 169 (67.6%) of minor severity. Quality improvement activities, mostly changes to hospital policies and work processes, were implemented with the aim of preventing the recurrence of specific adverse patient events. Over two years the number of adverse events fell from 84 (3.26% of all patient attendances) in the pre-intervention quarter to 12 (0.48% of all patient attendances) in the final quarter (relative risk reduction 85.3% (95% CI, 62.7% to 100%)). CONCLUSIONS: Adverse events in emergency departments can be efficiently detected and their rate reduced using retrospective medical record screening together with clinical review, analysis and action to prevent recurrences.

Emergency Service, Hospital↗
PubMed2001

Detecting and reducing hospital adverse events: outcomes of the Wimmera clinical risk management program.

OBJECTIVES: To determine if an integrated clinical risk management program that detects adverse patient events in a hospital, analyses their risk and takes action can alter the rate of adverse events. DESIGN: Longitudinal survey of adverse patient events over eight years of progressive implementation of the risk management program. PARTICIPANTS AND SETTING: 49,834 inpatients (July 1991 to September 1999) and 20,050 emergency department patients (October 1997 to September 1999) at a rural base hospital in the Wimmera region of Victoria. MAIN OUTCOME MEASURES: Rates of adverse events detected by medical record review and clinical incident and general practitioner reporting. RESULTS: The annual rate of inpatient adverse events decreased between the first and eighth years of the study from 1.35% of all patient discharges (69 events) to 0.74% (49 events) (P<0.001). Absolute risk reduction was 0.61% (95% CI, 0.23%-0.99%), and relative risk reduction was 44.9% (95% CI, 16.9%-72.9%). The quarterly rate of emergency department adverse events decreased between the first and eighth quarters of monitoring from 3.26% of all attendances (84 events) to 0.48% (12 events) (P< 0.001). Absolute risk reduction was 2.78% (95% CI, 2.04%-3.52%), and relative risk reduction was 85.3% (95% CI, 62.7%-100%). CONCLUSIONS: Adverse patient events can be detected, and their frequency reduced, using multiple detection methods and clinical improvement strategies as part of an integrated clinical risk management program.

Clinical Competence↗
PubMed2001

Guidelines for care of contact dermatitis.

These guidelines for the management of contact dermatitis have been prepared for dermatologists on behalf of the British Association of Dermatologists. They present evidence-based guidance for treatment, with identification of the strength of evidence available at the time of preparation of the guidelines, including details of relevant epidemiological aspects, diagnosis and investigation.

Dermatitis, Contact↗
PubMed2001

Nationwide study of haemolytic uraemic syndrome: clinical, microbiological, and epidemiological features.

AIMS: To establish the incidence and aetiology of haemolytic uraemic syndrome (HUS) in Australia and compare clinical and microbial characteristics of sporadic and outbreak cases. METHODS: National active surveillance through the Australian Paediatric Surveillance Unit with monthly case notification from paediatricians, July 1994 to June 1998. Children under 15 years presenting with microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal impairment were identified. RESULTS: Ninety eight cases were identified (incidence 0.64 per 10(5) children <15 years/annum and 1.35 per 10(5) children <5 years/annum). Eighty four were associated with diarrhoea (64 sporadic, 20 constituting an outbreak) and 14 were atypical. Shiga toxin producing Escherichia coli (STEC) O111:H- was the most common isolate in sporadic HUS and caused the outbreak. However O111:H- isolates from outbreak and sporadic cases differed in phage type and subtyping by DNA electrophoresis. STEC isolates from sporadic cases included O26:H-, O113:H21, O130:H11, OR:H9, O157:H-, ONT:H7, and ONT:H-. STEC O157:H7 was not isolated from any case. Only O111:H- isolates produced both Shiga toxins 1 and 2 and possessed genes encoding E coli attaching and effacing gene (intimin) and enterohemolysin. Outbreak cases had worse gastrointestinal and renal disease at presentation and more extrarenal complications. CONCLUSIONS: Linking national surveillance with a specialised laboratory service allowed estimation of HUS incidence and provided information on its aetiology. In contrast to North America, Japan, and the British Isles, STEC O157:H7 is rare in Australia; however, non-O157:H7 STEC cause severe disease including outbreaks. Disease severity in outbreak cases may relate to yet unidentified virulence factors of the O111:H- strain isolated.

Adolescent↗
PubMed2000

Reducing medical errors: a practical guide.

Healthcare delivery involves complex systems Preventable injuries occur more frequently than in other complex industries. Clinical risk management aims to reduce the probability of adverse patient events occurring. Adverse events can be detected by medical record review, clinical incident reporting and other methods. Events are analysed to determine latent and active errors and ranked in order of risk severity. Action is then planned and implemented to prevent the event from recurring. Effective actions include simplifying systems, standardising procedures, introducing constraints, using reminders and checklists, providing timely information, and small-group interactive education. Organisational factors that may increase the probability of successfully reducing medical errors in hospitals include the availability of adequate resources and education, the presence of clinical, executive and board of management quality champions, and quality improvement and risk management as key objectives in a hospital's strategic plan. Governments can aid the implementation of risk management programs by financially rewarding high quality care.

Algorithms↗
PubMed1999

UTP-preferring P2 receptor mediates inhibition of sodium transport in porcine thyroid epithelial cells.

1. The effects of adenosine 5'-triphosphate (ATP), uridine 5'-triphosphate (UTP) and analogues on forskolin-stimulated absorption of Na+ by porcine thyroid epithelial cells were analysed in cultures grown as confluent monolayers on permeable supports in Transwell Ussing chambers. 2. 85% of the forskolin (10 microM)-stimulated short-circuit current was inhibited by phenamil (1 microM), which is a selective antagonist for epithelial type Na+ channels. 3. Phenamil-sensitive current was inhibited in a dose dependent manner by nucleotides added to the apical compartment of Ussing chambers. In contrast, the phenamil-resistant current, previously shown to represent anion secretion, was unaffected by nucleotides. 4. The order of potency (with EC50 values given in microM) was UTP (0.08)>>ATP (6.3)=uridine 5'-diphosphate (UDP) (6. 6)>2methyl-thio-adenosine-5'-triphosphate (2MeSATP) (84.5)>adenosine 5'-diphosphate (ADP) (147.8)>alpha,beta-methylene ATP (>150)>>adenosine (>1000). 5. P2 receptors mediating inhibition of sodium absorption were present on the apical membrane of the cells since addition of UTP (1-1000 microM) to the basal compartment of the Ussing chambers had little effect while subsequent addition to the apical compartment produced a normal response. 6. Cibachron blue (Reactive blue 2) (1-100 microM), an antagonist at some P2 receptor subtypes, inhibited phenamil sensitive current in a dose dependent manner with half maximal inhibition occurring at 14.25 microM. 7. Suramin (100 microM), pyridoxalphosphate-6-azophenyl-2', 4'-disulphonic acid (PPADS) (100 microM) and pyridoxal 5'-phosphate (P5P) (100 microM) showed only slight competitive antagonism against the response to UTP. 8 These results indicate that a UTP-preferring P2 receptor located on the apical membrane of thyroid epithelial cells mediates inhibition of Na+ absorption.

Animals↗
PubMed1997

Titrated intravenous opioids from the same syringe: an infection risk?

OBJECTIVE: (1) To compare the rate of contamination of syringes prepared under laminar flow conditions in pharmacy with those prepared by nurses in the emergency department; (2) to determine whether the time elapsed since preparation or number of doses given affected the contamination rate; (3) to determine whether any adverse effects resulted from bacterially contaminated drugs. METHODS: Prospective, blinded trial exploring the effect of method of preparation, time since preparation, and number of doses given on contamination rates and infective adverse events associated with bacterially contaminated specimens. RESULTS: The rate of bacterial contamination was 12% (95% confidence interval 6% to 18%). There was no difference in contamination rate in respect of method of preparation, number of doses given, or time since preparation. No infective complications were identified. CONCLUSIONS: Abandonment of titrated intravenous opioids is not justified by the results. However, there is concern about the use of this technique of pain control for immunocompromised patients and those with prosthetic heart valves.

Analgesia↗
PubMed1997

Idiopathic anaphylaxis.

Three cases of idiopathic anaphylaxis are presented. This condition represents a rare but important cause of collapse. The development of atrial fibrillation, reported here for the first time, may lead to diagnostic difficulties. Early recognition and treatment is essential and will result in a good prognosis.

Adult↗
PubMed1997

Thymoma-associated cutaneous graft-versus-host-like reaction.

A 47-year-old man presented with diarrhoea, acquired hypogammaglobulinaemia and a cutaneous graft-versus-host-like reaction in association with a spindle cell thymoma. Graft-versus-host reactions usually occur following allogeneic transplantation or transfusion of immunocompetent lymphoid cells but have been described rarely in the context of a thymoma.

Agammaglobulinemia↗
PubMed1994

Value of a second freeze-thaw cycle in cryotherapy of common warts.

A study of open, randomized, parallel-group design was performed to investigate the impact of a second freeze-thaw cycle on the cure rate, at 3 months, from cryotherapy of common warts on the hands and feet. Cryotherapy was performed at 3-week intervals, and subjects were randomized to receive either one or two freeze-thaw cycles. In addition, all subjects used keratolytic wart paints throughout the study, and plantar warts were pared prior to freezing. Three hundred subjects were recruited. At 3 months, 124 were cured, 83 were not cured, and 93 had defaulted. Among those who did not default the cure rate was 57% from the single freeze technique, and 62% from the double freeze technique, a difference of 5% (P = 0.53, 95% CI-8.1-18.6). Separate analyses for subjects with warts on the hands and on the feet demonstrated no effect of double freezing on hand warts. In contrast, for plantar warts, the cure rate was 41% from single freezing and 65% for double freezing, a difference of 24% (P = 0.04, 95% CI 2.9-44.4). The use of a double freeze-thaw cycle confers little or no advantage over a single freeze in the treatment of hand warts, but may be considerably more effective for plantar warts.

Adult↗
PubMed1993

Proteus syndrome with cardiomyopathy and a myocardial mass.

Proteus syndrome is an overgrowth syndrome principally affecting cutaneous and skeletal tissues, accompanied by subcutaneous hamartomas. We report on a patient with predominantly skeletal and visceral involvement, including a cardiac mass and thickening of the myocardial septum affecting cardiac conduction and contraction.

Adult↗
PubMed1993

Pharmacological options for the treatment of acute ureteric colic. An in vitro experimental study.

The effects of opiate and non-steroidal anti-inflammatory agents on the in vitro canine ureter were compared using a new model for the assessment of ureteric pharmacology. A pressure measuring catheter attached to a pressure transducer and pre-calibrated pen recorder was ligated into the lumen of 2.5 cm segments of normal canine ureter. The segments were immersed in an organ bath at physiological pH and temperature and spontaneous contractility was observed in 90% of them. Morphine had a spasmogenic effect on ureteric activity which was unaffected by naloxone. This effect was similar to that of histamine and prostaglandin F2 alpha and was abolished by chlorpheniramine but not by cimetidine. Pethidine produced a transient stimulation followed by inhibition of ureteric activity which was unaffected by naloxone. Both indomethacin and diclofenac produced an abrupt inhibition which was reversible with prostaglandin F2 alpha. These data suggest that pethidine or a non-steroidal anti-inflammatory agent may by virtue of their spasmolytic effects be a superior choice of therapy for the acutely obstructed ureter.

Acute Disease↗