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Biomedical subjects

E Phelan

Publications and source records attributed to E Phelan.

At least 19 recordsLinked to original sources
PubMed2006

Powered instrumentation in obstructing laryngeal tumours.

Traditionally, debulking of obstructing laryngeal tumours has been performed with cold steel instruments or CO2 lasers. With recent technological advances and increased availability of microdebriders, powered instrumentation for debulking laryngeal tumours has become a viable option. We describe the use of the Xomed laryngeal Tricut blade in re-establishing the airways in four patients with obstructing laryngeal tumours. In all cases a tracheostomy was avoided, thus allowing adequate time to stage each patient and tailor surgery to the individual.

Aged↗
PubMed2005

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

BACKGROUND: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associated with severe neurological signs. METHODS AND RESULTS: We report a new phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype. This phenotype is associated with a splice site mutation in FLNA c.1923C>T, resulting in the generation of both normal and aberrant mRNA. CONCLUSIONS: We postulate that the patient retains enough FLNA function to avoid the usual lethality associated with loss of function mutations in males and suggest that the severe constipation may be a clue to the molecular aetiology of other X linked conditions associated with severe constipation.

Abnormalities, Multiple↗
PubMed2005

Chondro-osseous respiratory epithelial adenomatoid hamartoma of the nasal cavity: a case report.

Chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH) of the nasal cavity is an exceedingly rare benign lesion of the nasal cavity. We report a case arising in an 11-year-old male patient, who presented with a 6-month history of right-sided nasal obstruction. Examination revealed a large fleshy, tender polyp in the right nasal cavity. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the large mass in the anterior nasal cavity extending superiorly to the cribriform plate on the right hand side. The polyp was resected endoscopically and confirmed histologically as a COREAH. The clinical differential diagnosis includes cartilaginous tumours and other hamartomatous lesions. Local resection should be curative.

Cartilage↗
PubMed2004

Childhood stroke following varicella infection.

Stroke in childhood remains unexplained in a significant proportion of those affected. We present a 4 year-old boy who presented with a stroke following a recent uncomplicated chickenpox infection. Varicella is increasingly recognized as a cause of acute ischaemic events in childhood and a recent history of chickenpox should be sought in children who present with a stroke.

Chickenpox↗
PubMed2003

Pure alcohol injection of a congenital splenic cyst: a valid alternative?

Congenital splenic cysts are a rare entity. They are more frequent in children and young adults. They are true cysts, lined by epithelium with a typical trabeculation. Aspiration and injection with antibiotics (minocycline-tetracycline) or pure alcohol has been reported sparsely with variable results. The purpose of this case study is to report our experience with ultrasound (US)-guided aspiration and injection of a congenital splenic cyst, which, in our case, did not prove a viable alternative to surgical defenestration.

Abdominal Pain↗
PubMed1998

Congenital muscular dystrophy, white-matter abnormalities, and neuronal migration disorders: the expanding concept.

The congenital muscular dystrophies are a heterogeneous, recessively inherited group of disorders that have been subclassified on the basis of clinical central nervous system involvement. We report two children with "pure" congenital muscular dystrophy, one merosin negative and one merosin positive with extensive white matter and occipital cortical neuromigration abnormalities on magnetic resonance imaging (MRI). The first patient (merosin-negative congenital muscular dystrophy) presented with hypotonia and weakness in the neonatal period and subsequently was found to have a leukoencephalopathy and occipital cortical dysplasia on magnetic resonance imaging. The second patient presented with developmental delay without definite weakness. Initial investigations revealed a leukoencephalopathy and cortical dysplasia, but the patient subsequently was shown to have merosin-positive congenital muscular dystrophy. These patients illustrate that white-matter changes are not specific for merosin-negative congenital muscular dystrophy alone and that extensive cortical abnormality can be found in both groups of patients. In addition, our second patient illustrates a nonmuscular mode of congenital muscular dystrophy presentation that should be considered in patients with a "nonprogressive leukodystrophy."

Canavan Disease↗
PubMed1997

The cost benefit of changing protocols in the management of intussusception.

BACKGROUND: At a time when pressure is being applied to healthcare systems to reduce costs and improve efficiency, both the medical and financial implications of changing practices need to be documented. METHODS: A review was undertaken of 703 patients with intussusception, treated during a 10-year period from 1983. RESULTS: This review showed that changes to the protocol for the management of intussusception have not only benefited the patient by reducing the morbidity and the operative rate, but also have led to a reduction in the length of hospital stay, providing significant cost savings to the health system. The reduction in the operative rate accounts for an estimated annual saving at the Royal Children's Hospital of $139,000. CONCLUSIONS: Improvements in the management of intussusception have resulted in significant reductions in the costs of treatments. The recent diagnosis-related group casemix funding arrangements mean, however, that the Royal Children's Hospital benefits more financially from inappropriate operative management of intussusception, than from non-operative management. Funding arrangements should not discourage optimal treatment.

Barium Sulfate↗
PubMed1994

Intussusception: a repeat delayed gas enema increases the nonoperative reduction rate.

The operative rate in intussusception has been significantly reduced by (1) expansion of the indications for attempted enema reduction of intussusception to include all children except those with peritonitis or septicaemia and (2) use of the gas (oxygen) enema rather than barium. This prospective study looked at the value of performing a delayed repeat gas enema in children in whom only partial reduction was achieved during the first enema, and who remained clinically stable. Twenty-one patients (of 156 with proven intussusception) had a repeat delayed gas enema, 30 minutes or more after the first attempt at reduction. This was successful in over 50%, reducing the number of patients requiring surgery at our institution by 24% and saving approximately five children a year from surgery.

Child↗
PubMed1993

Gas enema for the reduction of intussusception: relationship between clinical signs and symptoms and outcome.

OBJECTIVE: The aim of this study was to establish the extent to which the clinical features of intussusception can be used to predict successful outcome of gas enema and to determine whether the nonsurgical management of intussusception in children can be improved by refining the criteria used to select patients for gas enema. SUBJECTS AND METHODS: Clinical data on 282 consecutive episodes of intussusception (255 patients) were collected prospectively from January 1987 to July 1991. Gas enema was performed in 273 episodes, in which the clinical signs and symptoms were studied by using logistic regression. Nine patients had primary surgery. RESULTS: Gas enema was successful in 216 (79%) of 273 enemas attempted. Fifty-seven patients had surgery after unsuccessful enema. Univariate analysis showed significant associations between successful enema and duration of signs and symptoms less than 12 hr, no rectal bleeding, absence of small-bowel obstruction, presence of a palpable mass, and normal hydration. Multivariate analysis showed that dehydration, small-bowel obstruction, and duration of signs and symptoms longer than 12 hr were significant predictors of unsuccessful enema; yet, in these groups the rate of success still justified attempted enema. Even in severe dehydration, the successful enema reduction rate was 31%. CONCLUSION: Our data suggest that although the factors identified had some predictive value in determining the outcome of attempted enema reduction, they could not be used to indicate patients in whom enema reduction should not be attempted. All patients with intussusception should have a gas enema if the absolute contraindications to enema (i.e., peritonitis or perforation) are absent.

Child↗
PubMed1991

Serum concentrations of retinol and retinyl esters in adults in response to mixed vitamin A and carotenoid containing meals.

Previous studies using spectrophotometric methods for vitamin A analysis concluded that fasting prior to blood collection is not necessary for determining vitamin A status of children or young adult subjects. We measured the effect of mixed vitamin A and carotenoid containing meals with less than 3, 50, and 100% of the recommended dietary allowance (RDA) for vitamin A on serum concentrations of retinyl esters, retinol, and carotenoids in elderly and young adults after an overnight fast. Retinyl ester concentrations rose significantly in both age groups with a numerically higher rise over baseline in the elderly subjects: 6.0 +/- 0.9 micrograms/dl for elderly (p less than 0.001), 5.0 +/- 0.5 micrograms/dl for young (p less than 0.001) at 50% RDA; 9.0 +/- 1.3 micrograms/dl for elderly (p less than 0.001) and 6.8 +/- 1.6 micrograms/dl for young (p less than 0.05) at 100% RDA. We conclude that in both young and elderly adults, but especially in the elderly, fasting conditions are necessary for the accurate assessment of vitamin A status if spectrophotometric methods are used for measuring vitamin A.

Adult↗
PubMed1989

Gas reduction of intussusception.

Efforts to improve the non-surgical management of childhood intussusception centre around (a) reassessment of selection criteria used to ensure as many children as possible have the advantage of hydrostatic reduction, and (b) improvements and modifications of enema technique to ensure successful and safe reductions without increased morbidity. Reports that pneumatic reduction was highly successful in treating childhood intussusception prompted the authors to evaluate this technique over an 18 month period using our previously reported technique of oxygen at 2 litres/minute and a pressure of 80 mm Hg. Pneumatic reduction was attempted in 114 of 129 consecutive cases of intussusception, and was successful in 85 (75%). Fifteen patients (8.6%) were considered unacceptable risks for gas reduction using our current selection criteria and had primary surgery. The overall success rate considering all cases of intussusception managed at our institution over this period was 66% (85/129). As with any form of hydrostatic reduction, pneumatic reduction of intussusception requires careful selection of patients, meticulous technique, and awareness of complications and their appropriate management. Because of its simplicity and improved success rate, pneumatic reduction has replaced traditional barium reduction at our institution. It may be that with further evaluation of selection criteria, higher pressures, and prolonged attempts that results will improve further.

Barium Sulfate↗
PubMed1988

Comparison of oxygen and barium reduction of ileocolic intussusception.

Reports that gas reduction of ileocolic intussusception has a better success rate than traditional barium reduction prompted us to evaluate this technique and to compare the results with our previous experience with barium. Our method of intussusception reduction uses oxygen at a flow rate of 2 l/min and with a maximum pressure of 80 mm Hg. The results of 65 consecutive patients with 69 episodes of intussusception over a 9-month period were retrospectively reviewed. For eight episodes, gas enema was not used, including six patients who had barium reduction during the introduction of the gas technique and two patients in whom no intussusception was seen during gas enema were excluded. In the remaining 61 episodes, six patients were considered to be unacceptable risks for attempted therapeutic reduction with either oxygen or barium, according to our current criteria, and had primary surgery. Enemas with oxygen were attempted in 55 cases and were successful in 40 (73%). If all 61 cases with confirmed intussusception are included, the overall success rate with oxygen was 66%. We had greater success with oxygen than with barium (73% vs 53%), although identical pressures were used and the number of severely ill patients referred for therapeutic enema (90% vs 60%) had increased. The change in the referral pattern reflects the adoption of less conservative criteria for excluding patients from having therapeutic enema. No complications have occurred to date. We have had greater success with the use of oxygen than with that of barium, and have had no complications. Therefore, at our institution, oxygen has superseded barium for the therapeutic reduction of ileocolic intussusception.

Administration, Rectal↗
PubMed1981

Home blood glucose analysers. A consumer survey.

The seven home glucose analysers available on the Australian market were evaluated with respect to accuracy, ease of operation, price and additional features. At the same time, the BM-Test-Glycemie 20-800 dual sticks were assessed. The Boehringer Reflomat and Ames Eyetone can be regarded primarily as hospital instruments. The Ames Dextrometer, the Hypo-Count and both Stan Clark R.A.H.C. Glucose Testers were all adequate for home glucose monitoring. However, the Stan Clark R.A.H.C. Glucose Tester operating on Ames blood glucose reagent strips achieved the highest recommendation over all. The Glucochek was found to be an inconsistent instrument.

Blood Glucose↗
PubMed1976

Granulopoiesis in childhood aplastic anemia.

The soft agar technique was employed to investigate factors involved in the regulation of granulopoiesis in ten children with aplastic anemia. Children with AA had greatly reduced numbers of granulocytic colony-forming cells in their bone marrow and in their peripheral blood when compared to "control" children. Colony-stimulating activity was decreased in five of the ten children tested. Serum from eight children with AA did not inhibit colony formation when added to normal adult bone marrow cells in culture. The defect in AA residues in the stem cell, with involvement of the CSA-producing cells in some cases. The serum of these patients does not contain an inhibitor of granulopoiesis.

Anemia, Aplastic↗