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Biomedical subjects

J F Hallpike

Publications and source records attributed to J F Hallpike.

At least 19 recordsLinked to original sources
PubMed1998

Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions.

Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness. This family provides strong evidence of an hereditary form of NIID.

Adult↗
PubMed1994

Epidemiology of multiple sclerosis in Australia. With NSW and SA survey results.

OBJECTIVES: (i) To determine the prevalence of multiple sclerosis (MS) in New South Wales and South Australia; (ii) to compare these prevalences with those in other areas of Australia and to determine the relationship between prevalence and latitude; (iii) to examine the relative contribution of genetic and environmental factors in the aetiology of the disease in Australia; and (iv) to ascertain whether there had been a change in the frequency of the disease since 1961. RESULTS: The crude prevalence of MS in New South Wales on prevalence day (National Census Day, 30 June 1981) was 37.2/100,000 and the age-standardised prevalence 36.6/100,000. The female:male ratio was 2.3:1. The crude prevalence in South Australia was 29.4/100,000 and the age-standardised prevalence 28.8/100,000. The female:male ratio was 2.4:1. No Aborigines or Torres Strait Islanders with MS were identified. There was a significant increase in the prevalence with increasing south latitude in Australia, MS being about seven times more frequent in Hobart than in tropical Queensland, but no genetic differences were found in the surveyed population in different parts of Australia. A significant increase in the prevalence of MS occurred in most areas of Australia between 1961 and 1981, but this may not reflect a true increase in incidence. CONCLUSION: The increasing prevalence with increasing south latitude cannot readily be explained by genetic susceptibility, and suggests that environmental factors are important for expression of the disease.

Adolescent↗
PubMed1991

Kohlmeier-Degos disease: a multisystem vasculopathy with progressive cerebral infarction.

Kohlmeier-Degos disease, or malignant atrophic papulosis, is a rare and clinically distinctive vasculopathy characterised by cutaneous features with frequent gastrointestinal and neurological involvement and, almost invariably, with fatal outcome. The case is reported of a 22-year-old male who died of progressive cerebral infarction nine months from the time of development of pathognomonic skin lesions. Treatments with anti-platelet agents and plasma exchange were ineffectual in altering the progressive course of the disease. At autopsy, there was an extensive small vessel occlusive vasculopathy with similar features in skin, brain and bowel wall. The aetiology of Kohlmeier-Degos disease remains unknown. Diagnosis is on clinico-pathological grounds. Awareness of the disease is important, particularly in the differential diagnosis of cerebrovascular-arteritic-syndromes presenting in young adults.

Adult↗
PubMed1989

The contribution of mortality statistics to the study of multiple sclerosis in Australia.

Mortality statistics provided a valuable source of support for data obtained from prevalence surveys of multiple sclerosis in Australia. Firstly, multiple sclerosis mortality data for the decade 1971-80 in the States of Australia confirmed the relationship between increasing disease frequency and increasing south latitude shown by State and regional point prevalence surveys based on the national census day 30 June 1981. Secondly, a comparison with mortality data from the decade 1950-59 showed that in most States there had been a substantial fall in multiple sclerosis mortality in the more recent decade and this was clearly an important contributing factor to the rise in prevalence noted between the morbidity surveys of 1961 and 1981. Thirdly, multiple sclerosis mortality in the UK-born migrant population dying in Australia was found to be similar to that of the Australian-born population and very much lower than that found in the UK. This observation corroborated evidence from the 1981 morbidity surveys and suggested that migration from the UK to Australia may lower the risk of developing multiple sclerosis either through a reduction in disease incidence or the operation of environmental factors curbing disease expression.

Australia↗
PubMed1986

The fine structure of the intramitochondrial crystalloids in mitochondrial myopathy.

The fine structure of the intramitochondrial crystalloids found in mitochondrial myopathies was investigated using high angle tilting of ultrathin sections and freeze fracture replicas. Observations show the crystalloids to be composed of 8 nm granules in a unique array. Analysis of the arrangement seen in three mutually perpendicular planes has permitted a model of the crystalloid and its relationship to the mitochondrial membranes to be proposed. The biochemical nature and pathophysiological significance of the crystalloids is still undetermined.

Biopsy↗
PubMed1985

Tomaculous neuropathy: hereditary predisposition to pressure palsies.

A family is described in which six members in three generations have been affected by a remittent and pressure-sensitive mononeuritis or mononeuritis multiplex. In addition, nerve conduction studies have demonstrated the presence of peripheral neuropathy in clinically unaffected as well as affected family members, thus providing evidence of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of of an autosomal dominant inheritance pattern. A sural nerve biopsy from one of the clinically affected members of this family showed 'sausage-shaped' swellings of myelin sheaths characteristic of tomaculous neuropathy. This rare condition, which is briefly reviewed, appears to be a distinctive clinicopathological entity and usually follows a benign course.

Adolescent↗
PubMed1983

Clinical features of mitochondrial myopathy.

Five patients with mitochondrial myopathy are discussed. Two presented with progressive external ophthalmoplegia (CPEO), one with CPEO and retinitis pigmentosa, and two with Kearns-Sayre syndrome. Ragged red fibres and intra-mitochondrial paracrystalline inclusions were found in each case. The clinical heterogeneity of the mitochondrial myopathy syndrome in the presence of identical pathological changes in skeletal muscle is emphasised.

Adult↗
PubMed1983

Diffuse infiltrating astrocytoma (gliomatosis cerebri) with twenty-two-year history.

The case is described of a man, aged 46 at his time of death, who suffered from focal motor, adversive and generalised seizures for 22 years. He developed a progressive dementia over the last 2 years of his life. Investigation, including angiography and air encephalography early in the course of the illness and repeated CT head scans later, failed to demonstrate any neoplasm. Death occurred abruptly, due to cerebellar tonsillar herniation. At postmortem an extensive diffuse low grade fibrillary astrocytoma infiltrated both cerebral hemispheres, the corpus callosum, central grey matter, midbrain and pons. Thus, there was gliomatosis cerebri. Attention is drawn to the exceptional length of the history in this case, the difficulties which may arise in displaying diffusely infiltrating low grade astrocytomas radiologically and to the rare occurrence of gliomatosis cerebri.

Adult↗
PubMed1982

Central core disease. Study of a family with five affected generations.

A family is described in which at least 37 members in five generations living in Australia have suffered from a rare congenital myopathy--central core disease (CCD). Histochemical and ultrastructural features typical of CCD were present on muscle biopsy. Although there are variations in clinical expression, a relatively benign and nonprogressive course is usual. Inheritance of CCD in this family conforms to an autosomal dominant pattern with a high degree of penetrance.

Adult↗
PubMed1981

Cerebral malakoplakia.

A case of cerebral malakoplakia is described in an 18-year-old woman who died as the consequence of a postpartum stroke. The malakoplakic lesion occurred in areas of cerebral infarction. The features of this unique case are compared with the small number of previously reported cases of cerebral malakoplakia which occurred in much younger patients and against a background of herpes simplex infection.

Adolescent↗
PubMed1979

Antiopyrine half-life as a measure of hepatic enzyme induction: clinical applications in a chronic epileptic population.

Quantitation of hepatic microsomal enzyme induction in epilepsy has a theoretical role in identifying patients at risk of metabolic bone disease, in assessing drug compliance and in predicting anticonvulsant dose/serum level relationships. The clinical usefulness of antipyrine half-life as a measure of enzyme induction in chronic epilepsy has been explored in this study. Mean antipyrine half-life in a control group (mean 10.7 hours SD 2.0) was significantly longer than in an epileptic group (mean 5.6 hours SD 2.3). Antipyrine t1/2 did not distinguish epileptics with osteomalacia from other epileptic patients and half-lives were similar in patients treated with phenytoin and a barbiturate to those in patients on phenytoin alone. No significant correlation was found between antipyrine half-life and phenytoin dose or between half-life and phenytoin level. In 5 patients with low serum levels of anticonvulsant, antipyrine kinetics suggested poor compliance in 3 and rapid hepatic phenytoin degradation in 2. This study suggests that measurement of antipyrine half-life may be useful in assessing drug compliance, but is not useful in predicting the onset of osteomalacia or dose/serum level relationships.

Adult↗
PubMed1973

Superior orbital fissure syndrome. Some clinical and radiological observations.

A patient is described with features of a superior orbital fissure (Tolosa Hunt) syndrome and a coexistent intraorbital lesion. There was radiological evidence both of narrowing of the carotid artery and of an intraorbital obstruction of venous return from the orbit. The diagnostic value of orbital venography and carotid angiography in the investigation of granulomata in the region of the orbit is stressed. The condition described here is responsive to corticosteroids and it is also inferred that there may be a clinicopathological spectrum encompassing both the Tolosa Hunt syndrome and pseudotumour of the orbit.

Adult↗