De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
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Alleles↗
Biomedical subjects
G Wise
Publications and source records attributed to G Wise.
Regulation of differentiation/maturation in vascular smooth muscle cells by hormones and growth factors.
Smooth muscle cells (SMC) within atherosclerotic lesions show marked alterations in their differentiated properties as compared to normal medial SMC. This process of de-differentiation of SMC has been referred to as "phenotypic modulation", and is characterized by increased growth responsiveness, altered lipid metabolism, increased matrix production, and loss of contractile proteins, all of which can contribute to the development and/or progression of atherosclerotic disease. As such there has been much interest in understanding mechanisms and factors that control the differentiation of the vascular SMC. This paper reviews the effects of growth factors, growth inhibitors, and other extrinsic factors on differentiation/maturation of SMC, with a particular emphasis on consideration of factors that may contribute to abnormal control of SMC differentiation in vascular disease. In addition, we will briefly summarize what is currently known regarding molecular mechanisms that control the coordinate expression of genes encoding for SMC-selective/specific proteins that are required for the differentiated function of the vascular SMC.
Animals↗
Comparison of warfarin use in total knee replacement vs total hip replacement.
The purpose of this retrospective study was to determine the efficacy of warfarin prophylaxis against deep vein thrombosis (DVT) in total hip arthroplasty (THA) vs total knee arthroplasty (TKA). A review of venograms in 223 patients with THA and in 189 cases of TKA was carried out. The overall DVT rate in THA was 22%. The overall DVT rate in TKA was 46%. We conclude that combined or alternate methods need to be used to decrease the rate of DVT following TKA to that of THA.
Aged↗
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
We have previously reported that heterozygosity for myelin Po gene mutations were associated with Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas disease. We investigated the Po gene in a family with clinical Dejerine-Sottas disease and found two children were homozygous for a deletion of Phe 64. The parents were heterozygous first cousins with subclinical CMT1B and slow nerve conduction velocities. These results suggest that the effect of homozygous Phe 64 deletion on impairment of myelination is dosage-dependent. Clinical phenotype and/or myelin impairment may be determined both by the type of mutation and by the dosage of mutated gene.
Base Sequence↗
Photophobia and lithium.
CLINICAL PICTURE: We report the case of a 45 year old woman who developed photophobia after 6 months on lithium at non-toxic levels. TREATMENT AND OUTCOME: Lithium was reintroduced twice and on both occasions this side-effect reoccurred within days. CONCLUSIONS: Photophobia has only been described previously as a symptom of lithium intoxication.
Antimanic Agents↗
Painful torticollis with tongue atrophy--a different neck-tongue syndrome.
Two children were referred with neck pain, torticollis, dysarthria, and atrophy of the tongue. The erythrocyte sedimentation rate was markedly elevated in both cases. Radiologic appearances were similar. In both cases the cervical spine was stable. Computerised tomography showed soft-tissue swelling surrounding the odontoid process and distorting the theca. Magnetic resonance imaging showed gadolinium enhancement of the soft tissue overlying the clivus and around the odontoid, impinging on the medulla and high cervical cord. Biopsy in the second case was not diagnostic. Steroids led to a dramatic and sustained improvement in symptoms and a marked decrease in soft tissue mass. The history, elevated inflammatory indices, radiologic appearance and response to steroids, are consistent with an inflammatory process.
Atrophy↗
Intravenous therapy: are physicians asking the wrong nurses to do the task?
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Clinical Competence↗
Hypertrichosis "cubiti" with facial asymmetry.
Hypertrichosis of the elbow region may be the only abnormality in hypertrichosis cubiti (hairy elbow syndrome). Only 6 cases have been reported; 2 Amish sibs also had additional short stature and, in the most recent case report, a patient had asymmetry of the face, generalized hypotonia, ptosis, epicanthic folds, highly arched palate, and delayed growth and development. The child reported here also had asymmetry of facial growth, ptosis, delayed speech development, and hypertrichosis in a patchy distribution which included the elbow regions, face, trunk, and thighs. There was no family history of hypertrichosis, and the karyotype of cultured fibroblasts was normal in the skin of an area of hypertrichosis. These patients appear to have a distinct condition compared to other hypertrichosis syndromes.
Elbow↗
Dose dependent effects of alcohol on visual evoked potentials.
The effects of various alcohol doses on components of the visual evoked potential were investigated. Using a repeated measures, Latin square design, five alcohol dose conditions were administered to ten male subjects: 0.00 (placebo); 0.28; 0.36; 0.54 and 0.72 g/kg total body weight. EEG responses to a reversing checker board stimulus were measured in a standard oddball paradigm. In the alcohol conditions, latencies of the P1 and P2 components of the VEP were unaffected. However, reaction time, and the latencies of N2 and P3 displayed significant dose related increases with increasing blood alcohol levels. Further, RMS power of the P3 complex was reduced by higher alcohol doses, as was the N2-P3 amplitude difference at central and parietal sites. It is concluded that the latency and power of the endogenous components of the VEP are altered by alcohol, without effects being seen in earlier components.
Adolescent↗
Smith-Fineman-Myers syndrome in two brothers.
We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.
Abnormalities, Multiple↗
Glyceryl ethers in peroxisomal disease.
1-O-Alkyl and 1-O-alk-1-enyl (plasmalogens) glyceryl ether lipid levels were measured in post-mortem brain and/or liver biopsies from 7 patients with ultrastructural and biochemical evidence of a defect in peroxisomal biogenesis and/or enzymological evidence of a disturbance in ether lipid synthesis. Near normal levels of both species of glyceryl ether lipids were found in neonatal adrenoleukodystrophy and infantile Refsum's disease but marked deficiencies were found in Zellweger's syndrome and rhizomelic chondrodysplasia punctata, the latter manifesting the most profound reduction in ether lipid levels. These observations suggest that little ether lipid biosynthesis occurs in vivo in rhizomelic chondrodysplasia punctata or Zellweger's syndrome. However, in some phenotypes with apparently gross reductions in peroxisomal numbers, e.g. neonatal adrenoleukodystrophy and infantile Refsom's disease, there is significant ether lipid synthesis in liver and brain.
Adrenoleukodystrophy↗
A survey of local anaesthesia use in cataract surgery in Australia.
A survey of the use of local anaesthesia in cataract surgery by ophthalmologists in Australia is presented. The main conclusions drawn from the survey were: 1. A marked trend towards the use of local anaesthesia in cataract surgery during the years 1983-88 throughout Australia. A less marked trend in country areas and in Western Australia. 2. The use of local anaesthesia did not correlate with the number of cataract operations performed by an ophthalmologist. 3. Day case cataract surgery was more often performed under local anaesthesia in private than in public hospitals. 4. Throughout Australia retrobulbar local anaesthesia was preferred to the peribulbar technique. 5. The most commonly used local anaesthetic mixture was 2% lignocaine and 0.5% marcaine with or without adrenaline and/or hyalase.
Anesthesia, Local↗
Hereditary sensory neuropathy type II without trophic changes.
Three cases with sensory peripheral neuropathies are reported. Case 1 presented with scoliosis, and cases 2 and 3 presented with abnormal gait. None had trophic limb changes, evidence of weakness, or a tendency to self-mutilation and each had normal motor studies on neurophysiological testing. Sural nerve biopsies showed a severe loss of myelinated fibres and case 3 had evidence of denervation on muscle biopsy. These cases are presented as examples of hereditary sensory neuropathy type II. They are unusual in that they do not have trophic changes.
Adolescent↗
Conal anaesthesia: a new approach to retrobulbar anaesthesia.
We have set out critically to assess the current percutaneous technique of retrobulbar anaesthesia. Access to the confined space within the muscle cone is limited by the globe itself and the medially directed lateral orbital wall. By approaching the retrobulbar muscle space with a curved needle through the inferior conjunctival sac these anatomical constraints are overcome. This technique is referred to as conal anaesthesia. A quantitative comparison of the two techniques demonstrates that the conal approach produces more reliable and effective muscle block with faster onset of action than conventional percutaneous anaesthesia. The conal approach is safe and offers advantages with its ease of application, excellent anaesthesia and akinesis and through its rapid and consistent results.
Anesthesia, Local↗
Effect of the hemopump left ventricular assist device on regional myocardial perfusion and function. Reduction of ischemia during coronary occlusion.
The Hemopump is a new 7-mm diameter left ventricular assist device that provides as much as 3.5 l/min of nonpulsatile cardiac output after fluoroscopic placement into the left ventricle through a femoral artery cutdown. The purpose of this study was to measure the effects of Hemopump assist on hemodynamics, left ventricular function, and perfusion in the presence and absence of ischemia. Eight dogs were instrumented under pentobarbital anesthesia with left ventricular, left atrial, and aortic catheters, a loose silk ligature around the midleft anterior descending coronary artery, and sonomicrometer crystals in midwall myocardium within the left anterior descending and circumflex perfusion territories. Hemodynamic variables, regional systolic fractional shortening, and myocardial perfusion after left atrial injection of 15-microns radiolabeled microspheres were measured in the presence and absence of Hemopump assist before and after left anterior descending artery occlusion. In the absence of ischemia, Hemopump left ventricular assist resulted in reduced left ventricular end-diastolic pressure while aortic mean pressure was maintained, and there was significant reduction in regional systolic fractional shortening (reflecting systolic unloading) that correlated with an 18% decline in regional myocardial perfusion. During left anterior descending artery occlusion, left ventricular systolic and diastolic pressures were reduced during Hemopump assist while aortic mean pressure was maintained. Perfusion rose in the ischemic territory (from 13.0 +/- 8.7% to 26.2 +/- 19.8% of nonischemic flow, p = 0.045). Reduced fractional shortening was again seen in nonischemic tissue with Hemopump assist during left anterior descending artery occlusion, and this was often correlated with reduced perfusion (r = 0.67).(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
Interleukin 5 and interleukin 2 cooperate with interleukin 4 to induce IgG1 secretion from anti-Ig-treated B cells.
We have analyzed requirements for IL-4-induced secretion of IgG1 from anti-Ig-activated B cells. Activated B cell blasts prepared by culture of high density B cells with anti-Ig failed to secrete IgG1 upon subsequent culture with LPS and IL-4. However, IL-4 markedly suppressed IgM secretion in the same cultures. Addition of a mixture of T cell-derived lymphokines or rIL-5 to LPS-stimulated anti-Ig blasts restored IL-4-stimulated IgG1 secretion; rIL-2 further enhanced the response to IL-4 + rIL-5. These results suggest that IL-4, IL-5, and IL-2 cooperate in the regulation of B lymphocyte Ig isotype expression.
Animals↗
Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.
Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26:C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26:C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.
Eicosanoic Acids↗
Neuropathology in glutaric acidaemia type 1.
The neuropathology in three cases of glutaric acidaemia type 1 is presented. All three showed extensive neuronal loss in the caudate nucleus and the putamen, with only small numbers of large neurons surviving. The globus pallidus showed moderate shrinkage and gliosis but no conspicuous decreases in neurons. Severe spongiform change was seen in many regions, involving predominantly white matter. These features are very similar to some cases described previously in familial striatal degeneration in childhood, but are different from other cases. If found in a brain at autopsy, they should lead to studies to diagnose glutaric acidaemia type 1 retrospectively, so that accurate genetic counselling and prenatal diagnosis in future pregnancies can be offered.
Child↗