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H Staunton

Publications and source records attributed to H Staunton.

At least 37 records · Page 2Linked to original sources
PubMed1996

Multifocal remitting-relapsing cerebral demyelination twenty years following allogeneic bone marrow transplantation.

We report a case study of a female who received an allogeneic bone marrow transplantation (BMT) from a sex-mismatched related donor and who, after a twenty-year interval, developed an acute fulminant biopsy-proven demyelinating disorder of cerebral white matter which followed a remitting-relapsing chronic course. In situ hybridization studies using Y-chromosome-specific markers revealed Y-chromosome-positive mononuclear cells in biopsy samples of white matter. Magnetic resonance imaging (MRI) studies of the asymptomatic healthy male donor showed multiple white matter lesions. These observations suggest that donor lymphocytes were sensitized to central nervous system (CNS) antigens prior to or at the time of transplantation but remained dormant for 20 years before becoming activated to cause widespread demyelination.

Adult↗
PubMed1996

Peripheral nerve amyloidosis.

Peripheral nerve amyloidosis is the cardinal feature of familial amyloid polyneuropathy (FAP) but can also be seen in primary light chain (AL) amyloidosis and dialysis (beta 2-microglobulin) related amyloidosis. The generalized neuropathy seen in all forms of peripheral nerve amyloidosis is similar, characterized by a severe progressive mixed neuropathy with autonomic dysfunction. Pathologically, amyloid is found in the peripheral nervous system as amorphous, eosinophilic, extracellular deposits. FAP is most commonly associated with variant plasma transthyretin (TTR), although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. There are now at least 36 point mutations in the TTR gene associated with FAP and these continue to be described. Recent studies on the possible role individual point mutations in the TTR gene may play in amyloidosis have helped give us an insight into the mechanisms behind peripheral nerve amyloidosis. This article reviews the clinical and pathological features of the peripheral nerve amyloidosis and discusses theories of amyloidogenesis based on studies of FAP.

Amino Acid Sequence↗
PubMed1995

Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.

A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are descended from a founder in north west Ireland. There is evidence for reduced penetrance of this disorder. A population based study showed that 1.1% of the population in this area in north west Ireland carry the mutation. This has implications in terms of diagnosis, genetic counselling, and treatment in the future.

Aged↗
PubMed1991

Granulomatous gastritis: part of a vasculitic syndrome.

The previously unreported association of granulomatous gastritis and mononeuritis multiplex occurring in the setting of a vasculitic syndrome is described. The two conditions are considered to be associated and to be immune mediated. The previously accepted concept of isolated granulomatous gastritis is disputed.

Female↗
PubMed1991

Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.

A cluster of cases of late onset amyloidosis, presenting chiefly with peripheral neuropathy and cardiac failure, has been described in Donegal, north-west Ireland. Molecular genetic and protein analyses show that two new patients from the same region have a mutation in the transthyretin gene previously reported in a family with an Irish ancestor from the Appalachian region of the United States.

Aged↗
PubMed1990

The inheritance of MS susceptibility.

The object of this study was to determine, if possible, the mode of inheritance of the susceptibility to multiple sclerosis (MS). It was known that no single-gene model could fit the observations, so oligogenic models (models involving a small number of genes) were sought. Oligogenic hypotheses were tested against the available population data for MS until a reasonable level of agreement was found. The best-fitting simple hypothesis was this: MS occurs only in people who are homozygous for a recessive gene and carry a dominant X gene, and then only with reduced penetrance. The dangerous allele m- at the autosomal locus appears to be fairly uniformly distributed across England, Ireland and Canada, occurring in 10-30% of the gene pool. There are large variations in the frequency of the allele s- at the X-locus, ranging from 10% up to 72% of the gene pool. The penetrance varies significantly with geographical location, but nowhere approaches unity, so that the environmental factors are of great importance. The hypothesis explains the broad features of the population pattern of the occurrence of MS and it gives an outstanding fit to the best available data on MS in relatives. The result may assist attempts to map the genetic data on MS, opens the way for a reassessment of the attempts to identify the environmental factors, and it makes possible the completion of nonempirical risk tables for various countries. Similar techniques may be applied to other disorders with a genetic component in their aetiology.

Disease Susceptibility↗
PubMed1989

The effect of prednisolone in Refsum's disease.

A 16 year old schoolgirl with an established peripheral neuropath (motor conduction velocity in peroneal nerve of 5 metres/sec., absent sural nerve potential and CSF protein of 160 mg%) presented with a progressive worsening to the point of physical incapacitation over the course of 23 days. Serum phytanic acid was 33 mg/100 ml. Following the exhibition of prednisolone she was discharged walking well after 5 days. After 3 weeks the steroid medication was stopped and a phytanic acid free diet instituted. Despite continued abnormal electrophysiological findings, (e.g. motor conduction velocity in peroneal nerve 3 metres/sec., and in ulnar nerve 8 metres/sec), she remains well three years later. It is probable that the steroid medication had a pronounced beneficial effect, though the mechanism of action remains unexplained.

Adolescent↗
PubMed1988

Microdysgenesis in resected temporal neocortex: incidence and clinical significance in focal epilepsy.

Fifty patients underwent superficial temporal lobectomy for intractable temporal lobe epilepsy. Total cure rate was 52%, and significant improvement was achieved in 88%. Cytoarchitectural changes in gray and white tissue were analyzed under light microscopy. Neuronal dysgenesis was correlated with the duration of seizure disorder, age of onset, and other etiologic factors, and with clinical outcome. Temporal lobes from 33 neurologically normal autopsy brains which were age- and sex-matched with patients were examined as controls. Severe neuronal ectopia (greater than 8 neurons/2 mm2 white matter) was present in 42% of patients with epilepsy and in none of controls. There was neuronal clustering in 28% of those with epilepsy, and Chaslin's (subpial) gliosis in 38%. Controls did not have these changes. The presence of severe neuronal ectopia and clustering was predictive of a favorable clinical outcome following surgery (p less than 0.05). No correlation was found between microdysgenesis and other factors. These findings suggest that the presence of neuronal dysgenesis may be of significance in the clinical outcome following surgery, and that the abnormal tissue may be important as a morphologic substrate for seizures in some patients.

Adolescent↗
PubMed1987

Hereditary amyloid polyneuropathy in north west Ireland.

Seven cases of chronic sensorimotor polyneuropathy due to amyloidosis, from 7 different families, are described, in addition to the pathology in a sibling of 1 case. The age of onset ranged from 55 to 72 years. Cardiac involvement, intermittent diarrhoea and syncopal attacks were a frequent occurrence. Motor conduction velocity showed a moderate degree of slowing in 5 of 6 cases studied and marked slowing in 1. Amyloid deposits were seen in nerve biopsy material of all 8 subjects and in rectal mucosa from 1. Immunohistochemical identification revealed AF (transthyretin-derived)--amyloid in all 8 instances, confirming the presence of type 1 familial amyloid neuropathy. The genealogical data supported this analysis. Six of the 8 cases originated in a small area of the north-west coast of County Donegal in Ireland. The remaining cases also originated in the same county.

Aged↗
PubMed1982

Polio revisited.

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Adult↗