Haemoglobin A2 (HbA2) levels were determined on 25 beta-thalassaemia carriers by the microcolumn method and were found to range from 4.5-7.2 per cent (mean 5.2 +/- 0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 consecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be beta-thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all beta-thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut-off level of 70 fl, 8 per cent of the population screened would require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut-off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and beta-thalassaemia. The presence of iron deficiency in beta-thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study.(ABSTRACT TRUNCATED AT 250 WORDS)

Erythrocyte Indices↗

PubMedDate not supplied

Quantitative demonstration of somatic synapse sprouting following dendritic deafferentation in neonatal rat interpeduncular nucleus.

Neonatal habenular lesions deafferent the dendrites of interpeduncular nucleus (IPN) neurons by preventing formation of S and crest synapses. The small number of synapses normally contacting IPN neuronal perikarya are of unknown, but non-habenular, origin. The number of synapses on IPN perikarya is significantly increased (p less than 0.001) when 10 control animals are compared to 7 animals with unilateral habenular lesions and 7 animals with bilateral lesions. The increases with bilateral lesions are approximately twice those resulting from unilateral lesions (p less than 0.01). This phenomenon involves sprouting of both the somatic synapses which contain spherical vesicles and those with flattened vesicle endings, and is greater when the latter are considered alone (p less than 0.001). Only the small group of somatic synapses with asymmetrical contacts failed to show a change. The increases suggest a postsynaptic control mechanism which acts in the direction of preserving synaptic input, but permits displacement of the site of input from dendrites to soma. Factors which may be important in determining this outcome are the production of the lesions prior to synaptogenesis, and the presumed shrinkage of the dendrites of the IPN neurons.

Animals↗

PubMedDate not supplied

Open label trial with vigabatrin in children with intractable epilepsy.

Thirty children (20 males, 10 females) with intractable epilepsy received vigabatrin (VGB) as an open label basis to preexisting antiepileptic drugs. The seizure types consisted of generalized tonic clonic seizure [10], complex partial seizure [8], myoclonic seizure [7], and mixed type with simple partial seizure, complex partial seizure and/or generalized seizure [5]. The cause of the epilepsy was cryptogenic in 16 and symptomatic in 12. The current dosage regime of anticonvulsants were maintained during the trial period. VGB at 40-80 mg/kg/day were titrated according to the clinical response for a period of 2-24 months. The result of treatment was categorized as 'responders' with 13 (43%) having 50-75% reduction of seizure frequency; and 'non-responders' which consisted of 17 children. There was no relationship between outcome of VBG add-on therapy and the sex, age of onset, type of seizure, type of epileptic syndrome, etiology, associated neurological abnormality, mental retardation or abnormal brain CT/MRI findings.

Adolescent↗

PubMedDate not supplied

Outcome of facial nerve palsy in 24 children.

Of 24 children with facial palsy, 6 (25%) had recurrent attacks. Complete recovery occurred in 21 (88%). Electrophysiological tests including direct stimulation of the facial nerve and blink reflex were performed in 12 serially to compare the prognostic value. Only direct response had prognostic significance in predicting the outcome. A normal direct response predicts a better prognosis (P = 0.002) whereas abnormal blink reflex can be associated with complete or incomplete recovery.

Acute Disease↗

PubMedDate not supplied

The double duct sign.

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Aged↗

PubMedDate not supplied

Glycometabolic status and acute myocardial infarction: has the time come for glucose-insulin-(potassium) therapy?

Glucose-insulin-potassium infusion as a metabolic therapy was first advocated for the management of acute myocardial infarction (AMI) in 1960s. Over the subsequent decades, enthusiasm for its use has been patchy, especially with the availability of other effective treatments such as reperfusion therapy for AMI. Several clinical studies in the mid-1990s revived the interest in the glycometabolic aspects of patients with AMI. The somewhat conflicting results of these recent studies have generated debate over the significance of the glycometabolic state following acute coronary occlusion and the role of insulin-based infusion therapy. Although most of the available evidence is in favour of an insulin-based therapy, there are still many aspects of this therapy that require clarification. More evidence will be required from further clinical trials before it is adopted in routine clinical practice.

Cardioplegic Solutions↗

PubMedDate not supplied

Outcome measure for paediatric rehabilitation: use of the Functional Independence Measure for children (WeeFIM). A pilot study in Chinese children with neurodevelopmental disabilities.

PURPOSE: To study the use of Functional Independence Measure for children (WeeFIM) in monitoring neurorehabilitation programmes for children with neurodevelopmental disabilities. METHODS: The neurorehabilitation team of the Children's Habilitation Institute of the Duchess of Kent Children's Hospital were trained to administer the WeeFIM. The WeeFIM was administered to children with various neuro-developmental impairment groups undergoing neurorehabilitation programmes in the hospital inpatient and also outpatient setting. The WeeFIM was scored on hospital admission and prior to discharge for those admitted for the rehabilitation programme. The WeeFIM profile was then monitored half yearly. The pilot study used WeeFIM in assessing 104 children with different medical disease categories. The disease or impairment categories included very low birth weight babies (n = 44), cerebral palsy (n = 19), Down's syndrome (n = 9), pervasive developmental disorder (n = 11), Duchenne Muscular Dystrophy (n = 18), and others (n = 3). RESULTS: WeeFim could be used to measure disability, monitor progress, enhance communication, measure the effectiveness of treatment, and document the benefits of rehabilitation intervention. It also served as a networking of neurorehabilitation programmes for different impairment categories in a continuum of settings: hospital, community, school and at home. WeeFIM was found to be a quick and reliable functional assessment instrument in this rehabilitation facility. CONCLUSIONS: WeeFIM could be used to assist neurorehabilitation clinicians in the selection of short term realistic goals and long term rehabilitation strategies for children with various neurodevelopmental disabilities, and the subsequent progress of the children could be monitored objectively.

China↗

PubMedDate not supplied

Hypertransfusion for spinal cord compression secondary to extramedullary hematopoiesis.

A 19-year-old girl with thalassemia intermedia presented with signs of thoracic spinal cord compression secondary to extramedullary hematopoiesis. She was started on a transfusion regimen to maintain a hemoglobin level of more than 12.5 g/dL. Clinical signs disappeared within the first week and circulating erythroblastemia was completely suppressed by the second week. Magnetic resonance imaging 4 weeks after diagnosis revealed near-complete resolution of the extradural mass, followed by gradual improvement in the posterior tibial somatosensory evoked potentials. Transfusion therapy may be diagnostically and therapeutically useful in spinal cord compression secondary to extramedullary hematopoiesis, obviating the need for surgery or radiotherapy.

Blood Transfusion↗

PubMedDate not supplied

Characteristics of two new retinoblastoma cell lines: WERI-Rb24 and WERI-Rb27.

From 49 eyes enucleated for retinoblastoma, two new cell lines, WERI-Rb24 (W-24) and WERI-Rb27 (W-27), were established in long-term culture (greater than 5 years). The W-24 cell line was derived from a 22-month-old boy with sporadic retinoblastoma; the W-27 cell line was derived from a 24-month-old boy with bilateral retinoblastoma. Both cell lines show abnormal mRNA transcripts corresponding to the retinoblastoma gene. At the DNA level, one retinoblastoma allele was not present in the W-24 cell line. In the W-27 cell line a mutation was identified in one allele, while the other appears grossly normal. Since no normal retinoblastoma mRNA can be detected in either cell line, a subtle mutation must occur on the grossly normal allele. Comparison of DNA in W-27 lymphocytes and tumor cells with DNA probe p6NR-0.5 indicates that the observed mutation occurred somatically. The application of these two new retinoblastoma cell lines to the characterization of defects in the retinoblastoma gene and to gene replacement therapy in retinoblastoma is discussed.

Alleles↗

PubMedDate not supplied

Hepatitis C: a novel cause of progressive multifocal leucoencephalopathy.

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Hepatitis C↗