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Biomedical subjects

J Hungerford

Publications and source records attributed to J Hungerford.

At least 37 records · Page 2Linked to original sources
PubMed1990

Detection of ocular malignancies.

The case notes of new patients attending the oncology clinic at Moorfields Eye Hospital during the first 5 months of 1988 were analysed retrospectively with regard to the origin of the primary referral, the presence of symptoms, the diagnosis and management. Sixty-eight of 94 new patients were diagnosed as having malignant ocular lesions. Of these 68, 47% were first seen and referred by an optician. Half of these patients were asymptomatic at the time of detection.

Adolescent↗
PubMed1989

Mesectodermal leiomyoma of the ciliary body: case report.

The clinical, light microscopical, and electron microscopical features of a mesectodermal leiomyoma of the ciliary body are presented. This exceptionally rare and apparently benign tumour is considered to be of neural crest origin. In the case described the tumour cells were seen to contain thin filaments with focal densities and conspicuous numbers of mitochondria, and smooth muscle protein was demonstrated by immunohistochemical means.

Adult↗
PubMed1989

Local extraocular extension of retinoblastoma following intraocular surgery.

Three cases of local extraocular extension of retinoblastoma following intraocular surgery via a transscleral approach have been seen in one centre during a 12-month period. This number represents a significant increase on the previous incidence of this serious complication, which may be related to more widespread use of vitrectomy techniques. Orbital and local lymph node recurrence of retinoblastoma have been associated with a very poor survival rate in the past, and steps must be taken to limit the chance of this happening should an intraocular surgical procedure be performed inadvertently on an eye containing a retinoblastoma. Early enucleation without implant is advised, and adjuvant orbital radiotherapy is strongly recommended, even when there is no histopathological evidence of local extraocular tumour spread.

Child↗
PubMed1989

Demonstration of bias in series of retinoblastoma.

A register of retinoblastoma is being compiled with the aim of complete ascertainment of all cases with a recorded diagnosis of retinoblastoma in the United Kingdom. Sources of ascertainment include patients seen at St Bartholomew's and Moorfields Eye Hospitals, cases recorded in regional cancer registries, and pathology reports. Ascertainment of the Hospital series is complete, but that of the rest of the country is still incomplete. Comparison between the proportions of bilateral and unilateral cases in an age cohort in the Hospital series and the country as a whole shows that the Hospital series is biased towards an excess of bilateral cases.

Eye Neoplasms↗
PubMed1989

Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma.

The authors have analysed the esterase-D levels in 500 retinoblastoma patients of whom 15 showed red cell enzyme activities of approximately 50% that of normal controls. Chromosome analysis of these 15 patients confirmed the presence of a deletion involving region 13q14 in all cases. Seven of the 15 cases had not previously been diagnosed and all of these showed sub-band deletions within 13q14. None of these seven patients were mentally retarded although the remaining eight who showed larger chromosome deletions demonstrated the full spectrum of psychomotor abnormalities associated with 13q deletions. Two other mentally retarded retinoblastoma patients with normal esterase-D activity showed no karyotypic abnormality, demonstrating that mental retardation cannot be taken to indicate a chromosome deletion in all cases. Eight of the 15 deletion cases were only unilaterally affected. The data presented in this article suggest that esterase-D quantitation could provide the primary means of detection of chromosome deletions in retinoblastoma patients.

Adult↗
PubMed1988

Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma.

During routine screening of retinoblastoma patients for esterase D activity in red blood cell lysates a patient was identified with only 50% of normal enzyme activity. Chromosome analysis showed that this patient had a small deletion within chromosome region 13q14. Parental studies showed that, whereas the father had normal enzyme levels, the mother had esterase D levels which were also 50% of normal and a similar small 13q14 deletion. Ophthalmological examination failed to demonstrate any retinal abnormality in either parent. Thus we present the first case not only of the direct transmission of a 13q14 deletion within a family but also of an individual in whom the deletion has not predisposed to tumour formation.

Cell Line↗
PubMed1988

Medulloepithelioma (diktyoma).

Sixteen cases of medulloepithelioma are described. Clinical data and follow-up were available on 15. Four patients underwent iridocyclectomy initially; all later needed enucleation and one had an orbital recurrence. The remaining 12 patients underwent primary enucleation. All 15 patients with follow-up are alive with no evidence of tumour recurrence. It is suggested that enucleation be performed for all but the most localised tumour. Rubeosis was noted in 13 of the 16 eyes, and this may assist in making the diagnosis. The World Health Organisation histological classification of medulloepithelioma was applied, but some problems were encountered, particularly where the presence of heteroplastic brain tissue was used as a criterion for teratoid tumour and where rosettes were used as a criterion for malignancy.

Adolescent↗
PubMed1988

Familial uveal melanoma.

The cause of uveal melanoma is unknown. In a few cases, however, factors are found in association with the disease which may play some part in the aetiology. One such factor is inheritance. Twelve families have been reported with adequate documentation during the last century in which two or more members have had uveal melanomas. At least some of these may be the result of an inherited disorder. On available data inheritance is most likely autosomal dominant with partial expressivity or incomplete penetrance. This report describes two more families each of which have two members with uveal melanomas.

Adult↗
PubMed1988

Cavernous haemangioma presenting as an orbital mass after enucleation for a choroidal melanoma: case report.

A patient presented with an ipsilateral orbital mass four years after enucleation for a choroidal malignant melanoma. Clinical examination revealed a darkly coloured mass suggestive of recurrent melanoma. CT scanning indicated a locally extensive tumour. Management was by excision without resort to orbital exenteration. Pathological examination revealed a cavernous haemangioma. The natural history of this tumour is discussed.

Choroid Neoplasms↗
PubMed1987

A chromosomal breakpoint that separates the esterase D and retinoblastoma predisposition loci in a patient with del(13)(q14q31).

A patient with severe mental retardation and other congenital abnormalities who developed retinoblastoma was shown to have a deletion on the long arm of chromosome #13 with breakpoints in regions q14 and q31. Quantitation of enzyme activity of the esterase-D gene which, together with the retinoblastoma locus, is located in region 13q14 showed levels that were equal to those of normal controls. The 13q14 breakpoint, therefore, appears to have occurred between the two loci, which places the esterase D gene in a more proximal position in this band than the retinoblastoma locus.

Carboxylesterase↗
PubMed1987

An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom.

Fifty retinoblastoma families have been studied. In 41 it has been possible to determine the esterase-D phenotypes in all family members. Seven families were informative for the enzyme polymorphism and in all cases cosegregation of the retinoblastoma gene and esterase-D alleles was demonstrated, giving a lod score of 2.61. When combined with other published reports the cumulative lod score is 13.69 with no recombination in 45 meioses. In 10-15% of retinoblastoma families therefore, it is possible to offer prenatal diagnosis using the ESD protein polymorphism. The application of this test to the retinoblastoma population in the UK is limited by the low frequency of the rarer allele (0.116) and, as a result of genetic counseling, the smaller families generally associated with retinoblastoma.

Carboxylesterase↗
PubMed1987

Modern lateral external beam (lens sparing) radiotherapy for retinoblastoma.

A standard 6 MV linear accelerator X-ray beam has been adapted to produce a non-divergent and almost penumbra-free beam edge by a beam splitting and extended collimation system. Using a contact lens to provide the reference point on the front surface of the eye and an attached rod-and-scale measuring system that is linked to the sharp beam edge system, it has proved possible to place this field border with an exactitude of within 0.5 mm at a required distance behind the front surface of the eye. This system has been developed for the treatment of small retinoblastomas not amenable to focal treatment methods; the technique may have other applications. Data in this manuscript corroborate an earlier Dutch publication and extend the observations on the physics beam profile obtainable, the immobilization of the patient, the anaesthetic procedure, the contact lens system and the dose prescription. Both scanning densitometry and TLC measurements in an anthropomorphic head shell (with extractable eye) confirm the extreme precision and sharp beam profile obtainable by this technique.

Eye Neoplasms↗
PubMed1987

Orbital recurrence of retinoblastoma.

There were 16 cases of orbital recurrence in a consecutive series of 317 children with retinoblastoma referred to a specialist centre. The incidence of orbital relapse amongst children treated at the centre from the outset of their disease was 2.5%. In every case the patient was the first affected family member. The ocular tumour was therefore not anticipated and had commonly been detected at an advanced stage. Systemic staging investigations detected extraorbital spread in six of the 16 and none of these children survived. One of the remaining ten children with no evidence of dissemination at the time of diagnosis of orbital recurrence is a long-term survivor. No child survived after orbital exenteration or radical orbital radiotherapy alone. Three children received a combination of radiotherapy and adjuvant chemotherapy. Only one of the three was free from systemic disease at relapse and this child is the only survivor. In children apparently free from widespread retinoblastoma at diagnosis of orbital recurrence, distant relapse was the commonest cause of death though several children died from direct intracranial extension. It is advocated that orbital recurrence of retinoblastoma is treated by excision biopsy of the tumour mass followed by radical orbital radiotherapy to a dose of 50 Gy. This should be combined with adjuvant chemotherapy and, where a risk of direct intracranial extension exists, by neuraxis irradiation. No other child in this series with evidence of local extraocular extension of retinoblastoma at enucleation and who had received radical orbital radiotherapy to a full dose of 50 Gy subsequently recurred in the orbit.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗