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Biomedical subjects

P A Tiffin

Publications and source records attributed to P A Tiffin.

6 recordsLinked to original sources

The use of antiepileptic drugs in learning disabled people with epilepsy: an audit of adult in-patients in a treatment and continuing care service.

The primary aim of the audit described was to examine antiepileptic drug use among adult in-patients with learning disability. A secondary aim was to examine investigation in those patients. For the purposes of this paper "Learning disability" is synonymous with ICD-10 "Mental Retardation", "Mental Handicap" or "Intellectual Impairment" and should not be confused with the North American use of the term which refers to discrete, specific problems in mental abilities such as reading. A total of 75 adult patients on both the Northgate and Prudhoe sites (managed by Northgate and Prudhoe NHS Trust) were identified as being treated with antiepileptic drugs (AEDs) for postulated epilepsy. Only 12 (16%) patients were being treated with three AEDs or more, the remainder being on either one or two AEDs. All patients with a history of status epilepticus were prescribed rectal diazepam or, more rarely, intranasal midazolam. The number and type of investigations performed on patients varied widely and was sometimes limited by the patient's ability to co-operate with procedures. Overall, 28 patients were identified who might benefit from a reduction in the number of AEDs prescribed. In 15 of these patients antiepileptic drug regime was currently being reduced. The increased utilization of sleep/sedated electroencephalogram (EEG) and magnetic resonance imaging (MRI--for partial seizures), where practical, may also increase diagnostic accuracy in identifying epilepsy and its aetiology. Audit will be repeated in 12 months.

Adult↗

Acute acquired comitant esotropia: a prospective study.

PURPOSE: To define the clinical characteristics of patients presenting with acute onset esotropia and features suggestive of possible underlying central nervous system pathology. To assess the prognosis for the return of binocular function and to consider the most appropriate management. METHODS: A prospective clinical study was carried out of all patients presenting to the department of paediatric ophthalmology at a university teaching hospital over the period January 1994 to April 1997. Each patient underwent a full ophthalmological examination (including assessment of sensory status). All patients were referred to a paediatric neurologist for examination and CT and/or MRI scan. RESULTS: Ten patients presented during the study period. Uncorrected hypermetropia and/or decompensated monofixation syndrome were the commonest aetiological factors. One patient was found to have a cerebellar tumour. In 5 patients prescription of the full hypermetropic correction alone was sufficient to restore binocularity. Five patients required bilateral medial rectus recession. Binocular function was restored in all cases--in 5 cases with bifoveal fusion. CONCLUSION: Decompensation of a pre-existing phoria or monofixation syndrome appears the commonest aetiology. Prescription of the full hypermetropic correction found at cycloplegic refraction forms an essential part of initial management. No single clinical sign can reliably indicate the rare patient harbouring a tumour. A high index of suspicion should be maintained and neuro-imaging considered in the absence of expected findings such as hypermetropia or fusion potential or in the presence of atypical features or neurological signs.

Acute Disease↗

Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.

PURPOSE: The gene for progressive bifocal chorioretinal atrophy (PBCRA) has been linked to chromosome 6q, near the genomic assignment for North Carolina macular dystrophy. A study was undertaken to define the clinical features of a large PBCRA pedigree and to determine whether PBCRA and North Carolina macular dystrophy are phenotypically distinct entities. METHODS: Fifteen affected individuals from 1 large family were examined clinically, which included angiography and electrophysiologic studies. RESULTS: The PBCRA is an autosomal dominant chorioretinal dystrophy of early onset characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow progression. A large atrophic macular lesion and nasal subretinal deposits are evident soon after birth. An atrophic area nasal to the optic nerve head appears in the second decade, which enlarges progressively. Electro-oculographic and electroretinographic studies indicated marked, diffuse abnormalities of rod and cone function. Fluorescein and indocyanine green angiography showed a large circumscribed area of macular choroidal atrophy with staining of deposits in the peripheral retina. In addition to previously documented features, nasal retinal abnormalities from a few weeks of age, marked photopsia in a number of patients, and retinal detachments in three eyes are reported as new features of the disease. CONCLUSIONS: An extended description of PBCRA is presented highlighting that the phenotype is distinct from North Carolina macular dystrophy, although some phenotypic similarities exist between the two conditions. These disorders may be the result of different mutations on the same gene or nearby genes.

Adolescent↗

Acquired palsy of the oculomotor, trochlear and abducens nerves.

There have been few studies primarily concerned with the relative frequencies, aetiologies and prognoses of ocular motor palsies. Those published have emanated largely from neurological tertiary referral centres rather than primary ophthalmology departments. We have performed a retrospective study of all patients with acquired III, IV or VI cranial nerve palsy who were seen in the orthoptic department at Ninewells Hospital, Dundee, over the 9 year period from 1984 to 1992. A total of 165 cases were identified. VI nerve palsies accounted for the majority of patients (57%), with IV nerve palsies (21%) occurring more frequently than III nerve palsies (17%) and multiple palsies (5%). Thirty-five per cent of cases were of unknown aetiology and 32% of vascular aetiology. The incidence of sinister pathology-neoplasia (2%) and aneurysm (1%)-was surprisingly low. Fifty-seven per cent of all patients made a total recovery (in a median time of 3 months) and 80% made at least a partial recovery. The results are contrasted with those of previous studies and the value of associated symptoms and of further investigation in the assessment of these patients is discussed.

Abducens Nerve↗

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. We have performed genetic linkage analysis on a five-generation British pedigree. Two-point linkage analysis showed significant linkage with nine microsatellite marker loci mapping to chromosome 6q. Multipoint analysis gave a maximum lod score of 11.8 (theta = 0.05) between D6S249 and D6S283. This region overlaps with that to which the gene for North Carolina macular dystrophy (MCDR1) has been assigned. However, given the range of differences in phenotype between these two retinal disorders, it is likely that different mutation mechanisms are responsible for each disease.

Atrophy↗