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Biomedical subjects

R J Hardie

Publications and source records attributed to R J Hardie.

At least 19 recordsLinked to original sources
PubMed2005

Cyclosporine treatment of anal furunculosis in 26 dogs.

OBJECTIVES: To evaluate the effect of cyclosporine on anal furunculosis lesions in 26 dogs. METHODS: Lesions were graded as mild in 11 dogs, moderate in eight and severe in seven. Each dog was treated with approximately 4 mg/kg cyclosporine orally every 12 hours until the lesions resolved or showed no further improvement. Residual lesions were resected surgically. RESULTS: Eighteen dogs (69 per cent) experienced complete resolution, seven (27 per cent) improved but had residual lesions and one (4 per cent) showed no improvement. The mean duration of treatment until resolution or no further improvement was 8.8 weeks (range four to 24 weeks). Nine dogs (35 per cent) experienced recurrence. Six were from the group that had shown complete resolution and three were from the group that had surgery. Fifteen dogs (58 per cent) developed side effects to cyclosporine, although none required treatment to be discontinued. Mean duration of follow-up was 6.8 months (range one to 20 months). CLINICAL SIGNIFICANCE: Cyclosporine was effective at resolving or reducing anal furunculosis lesions in 25 of 26 dogs (96 per cent). However, residual or recurrent lesions remain a potential problem, and surgical resection or long-term cyclosporine treatment may be necessary in some dogs.

Animals↗
PubMed2002

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

Chorea↗
PubMed2002

Goal attainment scaling in evaluating a multidisciplinary pain management programme.

OBJECTIVE: To examine the value of Goal Attainment Scaling (GAS) as a therapeutic tool and an outcome measure in a rehabilitation programme in the management of chronic pain. DESIGN: A prospective observational study. SETTING: A 15-day pain management programme, day case or residential, in an NHS Regional rehabilitation centre. SUBJECTS: One hundred and forty-nine consecutive patients enrolled during a 15-month period. INTERVENTIONS: Multidisciplinary structured educational programme of physiotherapy, occupational therapy and clinical psychology. MAIN OUTCOME MEASURES: GAS; timed tests of physical mobility measures; McGill Pain Questionnaire (MPQ); Pain Intensity Numerical Rating Scale (NRS); Oswestry low back pain Disability Questionnaire (ODQ); General Health Questionnaire (GHQ); Pain and Impairment Relationship Scale (PAIRS). GAS and physiotherapy measures were compared with baseline data at enrollment and at discharge 15 days later. At six-month follow-up all measures were repeated. RESULTS: Significant improvements at discharge were found for GAS, and physiotherapy measures. One hundred and twelve patients returned for review at six months, when improvements were maintained for GAS, sit/stand, Pain, ODQ and GHQ. GAS was shown to be a valid measure of ability, correlating significantly with walking improvement and somewhat less with a therapist-defined measure, suggesting some ability to discriminate. CONCLUSIONS: The improvement measured by GAS showed that patients were enabled by the programme to achieve personally valued goals over a six-month period and to improve on these more than on other more conventional outcome measures.

Adult↗
PubMed2001

Acanthocytosis and neurological disorders.

Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E deficiency results in a progressive spinocerebellar syndrome associated with peripheral neuropathy and retinitis pigmentosa. Neuroacanthocytosis is also probably an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysarthria, areflexia, seizures and dementia. McLeod syndrome is an X-linked recessive disorder usually presenting in males as a benign myopathy with areflexia, in association with a particular abnormality of expression of Kell blood group antigens. However, occasionally the neurological features are more severe and indistinguishable from those of neuroacanthocytosis. Recent advances in molecular genetics may assist better understanding of the disease mechanisms and the search for more effective treatments.

Abetalipoproteinemia↗
PubMed1999

An unusual case of Lafora body disease.

A case is described in which non-convulsive status epilepticus (NCSE) prompted further investigation leading to the diagnosis of Lafora body disease (LBD). The onset of NCSE was temporally related to the withdrawal of sodium valproate and introduction of carbamazepine, which may have been precipitating factors. NCSE has not previously been reported in LBD. Implications for its drug management are discussed.

Adolescent↗
PubMed1997

Evaluation of selected cardiopulmonary and cerebral responses during medetomidine, propofol, and halothane anesthesia for laparoscopy in dogs.

OBJECTIVES: To compare the dose-sparing effect of medetomidine on the propofol induction dose and concentration of halothane for maintenance of anesthesia during laparoscopy and to provide guidelines for effective and safe use of these anesthetics in dogs to ensure desirable perioperative analgesia. ANIMALS: 14 purpose-bred dogs. PROCEDURE: Cardiopulmonary and electroencephalographic responses were determined during 2 anesthesia protocols in dogs scheduled for laparoscopy. Fifteen minutes before anesthesia induction, all dogs received atropine sulfate (0.02 mg/kg of body weight, i.m.). Seven dogs were then given propofol (6.6 mg/kg, i.v.); anesthesia was maintained with halothane in oxygen. The other dogs were given medetomidine hydrochloride (10 micrograms/kg, i.m.) 5 minutes after administration of atropine sulfate; anesthesia was then induced by administration of propofol (2.8 mg/kg, i.v.) and was maintained with halothane in oxygen. RESULTS: The halothane concentration required for laparoscopy was lower in dogs given medetomidine. Anesthetic requirements were significantly increased during abdominal manipulation in both groups. Total amplitude of the electroencephalograph in medetomidine-treated dogs was not significantly lower than that in dogs not given medetomidine. Pulmonary responses were stable throughout all procedures. The primary cardiovascular response was an increase in blood pressure associated with the medetomidine-atropine preanesthetic combination. Significant differences in total amplitude or frequency shifts (spectral edge) of brain wave activity were not associated with surgical stimulation. CONCLUSION: Lack of neurologic changes during laparoscopy supports the efficacy of either medetomidine-propofol-halothane or propofol-halothane combinations at higher concentrations to provide desirable analgesia and anesthesia in this group of dogs.

Adrenergic alpha-Agonists↗
PubMed1996

The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia.

OBJECTIVE: To identify the neuropsychological profiles of patients with neuroacanthocytosis. PATIENTS: The medical files of 19 previously reported cases of neuroacanthocytosis were reviewed. Ten of the patients involved had undergone comprehensive cognitive assessments, and their neuropsychological records formed the basis of the present study. DATA EXTRACTION: Data on discrepancies between estimated optimal and obtained measures of general intelligence and scores on focal cognitive tests of memory, language, visual perception, and frontal lobe executive skills were tabulated and interpreted. RESULTS: Eight of the patients had evidence of general intellectual deterioration. Five patients presented with memory impairment, two of whom showed visuoperceptual deficits. None of the patients showed any significant high-level language deficits. The most consistent findings across cases was evidence of impairment in frontal lobe executive skills and psychiatric morbidity. CONCLUSION: The cognitive and psychiatric features of the patients suggests that neuroacanthocytosis is a frontosubcortical type of dementia.

Acanthocytes↗
PubMed1991

Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases.

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.

Acanthocytes↗
PubMed1989

Problems and unanswered questions concerning levodopa treatment in Parkinson's disease.

The main problems in long-term treatment of Parkinson's disease with levodopa are: 1. progressive decline in efficacy; 2. psychiatric complications; 3. the development of motor fluctuations. These are discussed, and important unanswered questions addressed, including when levodopa therapy should be started and at what dose; whether levodopa is in fact harmful in any way; what is the pharmacological role of O-methyl-dopa, present in such high concentrations; and the best management of motor fluctuations.

Humans↗
PubMed1989

Acanthocytosis and neurological impairment--a review.

Acanthocytes have a distinct morphology and are not normally found in peripheral blood. They occur in association with at least three neurological syndromes. In abetalipoproteinaemia, a progressive spinocerebellar ataxia and retinopathy occurs secondary to malabsorption of vitamin E. Cases with chorea are often familial, with orofacial dyskinesia and an axonal neuropathy causing areflexia and muscle wasting. Areflexia and a subclinical myopathy also occur in the McLeod syndrome, in which there is abnormal expression of Kell blood group antigens. The exact mechanism of acanthocytosis in each disorder remains uncertain: passive changes in membrane lipids, surface receptor/ligand interactions, and a primary membrane defect are among the possibilities.

Abetalipoproteinemia↗
PubMed1988

Neuroleptic-induced Parkinson's syndrome: clinical features and results of treatment with levodopa.

Twenty six consecutive patients with neuroleptic-induced Parkinson's syndrome (NIPS) are described. Their median age was 61 years, 60% were female, and most had received chronic neuroleptic medication for psychiatric indications. The clinical features were indistinguishable from idiopathic Parkinson's disease, except for the presence of co-existing orofacial chorea, limb dyskinesia or akathisia which provided an aetiological clue in 11 cases. Complete resolution of NIPS occurred in only two patients, one of whom later developed Parkinson's disease. Sixteen patients were treated with 300-1000 mg levodopa/benserazide for up to 4 years with few adverse effects but therapeutic response was disappointing.

Adult↗