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Biomedical subjects

N Cavanagh

Publications and source records attributed to N Cavanagh.

14 recordsLinked to original sources
PubMed2003

The role of transferrin saturation as a screening test for hereditary haemochromatosis in an Irish population seeking medical care.

BACKGROUND: Genetic studies have indicated a high prevalence of mutations for hereditary haemochromatosis (HH) in Irish populations. Given the high cost of genetic screening and the ethical implications thereof, we assessed the role of transferrin saturation (TS) as a primary screening test for HH in an Irish population seeking medical care. METHODS: TS and ferritin were measured on 330 consecutive blood specimens received in the laboratory for routine screening. Patients with TS > 45% were genetically screened for the C282Y and H63D mutations. RESULTS: Twenty-six patients had TS values > 45%. Of these, specimens were available for genetic screening on 20 patients. Three previously undiagnosed patients were found to be C282Y homozygotes and one a compound heterozygote (C282Y/H63D). The prevalence of C282Y homozygotes was 0.93%, which is similar to the reported prevalence found in Irish populations by genetic screening. CONCLUSION: Given the number of positive findings in this study, we conclude that, in the absence of a national programme, TS could be used as part of a health-screening panel in the Irish setting. Patients expressing iron overload would be detected before organ damage occurred, leading to less severe clinical disease and better patient prognosis.

Adolescent↗
PubMed2002

The effect of a change from conventional cardiac enzymes to troponin I on overall hospital costs in patients with suspected myocardial infarction.

A random sample of patients presenting to this hospital in 1996 and 2000 with chest pain was assessed retrospectively with respect to patient bed stay and associated costs. The laboratory testing protocol had been changed from traditional cardiac markers AST, CK and CKMB, to troponin I, in the intervening period. The average bed stay for patients with chest pain of non-AMI origin was reduced by 2 days, as a result of the change in testing protocol. As ward costs contribute 49% of total cost of treatment, this resulted in decreased cost per patient, and more efficient use of hospital beds.

Adult↗
PubMed2001

Psoriasis, psoriatic arthropathy and relapsing orbital myositis.

Orbital myositis is an inflammatory disorder of the orbital muscles causing orbital pain and restriction of eye movements. Although rare in children, it is most frequently seen after orbital trauma or as a post-infectious process. We describe a child with chronic relapsing psoriasis, juvenile psoriatic arthritis and relapsing bilateral orbital myositis.

Arthritis, Psoriatic↗
PubMed1986

Intracranial calcification in paediatric computed tomography.

An analysis of the computed tomograms of 18000 children examined consecutively form the basis of an assessment of the diagnostic significance of intracranial calcification. The low incidence of physiological calcification in the pineal and choroid of about 2% up to the age of 8 years, but increasing 5-fold by the age of 15 years, is confirmed. Pathological calcification occurred in 1.6%, the commonest causes being neoplasms (43%), neuroectodermal syndromes (20%) and infections (12%). Diffuse basal ganglia calcification (15%) bore little relation to the diverse clinical symptomatology, and routine biochemical studies showed a disorder of metabolism to be present in only 6 cases. Calcification has not been previously noted in acute haemorrhagic leukoencephalitis, Pertussis or Cocksackie encephalitis, infantile neuraxonal dystrophy, Marinesco-Sjögren syndrome or in the basal ganglia in neurofibromatosis.

Acute Disease↗
PubMed1986

High density on computed tomography in infantile Krabbe's disease: a case report.

In a child with a compatible clinical presentation and course of illness, Krabbe's disease was proven by white blood-cell galactocerebrosidase estimation in the homozygous range. A CT head scan performed at five months of age revealed symmetrical high density in the thalami, posterior limbs of the internal capsules and corona radiata. It also showed low density in the deep white-matter of the cerebral and cerebellar hemispheres and minor cerebral atrophy. Similar CT findings have been recorded in four other cases of infantile Krabbe's disease, and the authors consider that they are sufficient to alert the clinician to the probability of this diagnosis when the clinical signs are appropriate.

Atrophy↗
PubMed1982

Metachromatic leucodystrophy: review of 38 cases.

Clinical and laboratory features of 38 children suffering from metachromatic leucodystrophy (MLD) are reported. Twenty-four children with the late infantile form of MLD presented between ages 6 and 25 (mean 17) months with a delay or deterioration in walking, followed by a general loss of abilities. There was severe handicap by age 3 years and death occurred between 5 months and 8 years after presentation. Neurological signs at the time of diagnosis were varied. Motor nerve conduction velocity was slowed in the 18 children tested. The disease became evident at a later age in 14 children. One boy presented at 13 years, while in the remainder there appeared to be two clinical patterns of the disease which could be termed (1) early juvenile or intermediate and (2) juvenile MLD. In 7 children with early juvenile or intermediate MLD a gait disorder developed between ages 4 and 6 (mean 5) years. This was accompanied in 4 children, and followed between 8 and 26 months later in the remaining 3, by loss of other abilities. Neurological signs were varied. Motor nerve conduction velocity was slowed in 2 of the 5 patients tested. Six children with juvenile MLD presented between ages 6 and 10 years with educational or behavioural difficulties. Motor disorders arose from 6 months to 4 years later. Neurological signs at the time of diagnosis, although mixed, were predominantly extrapyramidal and motor nerve conduction velocity was slowed in 2 of the 3 children tested. In the early juvenile form of MLD, progression of the disease was slower than in the late infantile form and death occurred between 31/2 and 18 years after presentation. Only one-third of patients had fits and these tended to be a late feature.

Child↗
PubMed1979

Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.

A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.

Abnormalities, Multiple↗