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Peripheral neuropathy in elderly CBA mice. 老年CBA小鼠周围神经病变。
Australian paediatric journal Pub Date : 1988-01-01
M Pollock, S Cameron, S Allpress
{"title":"Peripheral neuropathy in elderly CBA mice.","authors":"M Pollock,&nbsp;S Cameron,&nbsp;S Allpress","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A late-onset peripheral neuropathy in a mouse with a wider progressive neurological disorder is morphologically characterized for comparison with late life human neuropathies. Preliminary studies indicate the presence of a proximal, predominantly motor, axonopathy in the mouse model.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"64-5"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13986440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neonatal myotonic dystrophy. 新生儿肌强直性营养不良。
Australian paediatric journal Pub Date : 1988-01-01
A Cunningham, P G Procopis
{"title":"Neonatal myotonic dystrophy.","authors":"A Cunningham,&nbsp;P G Procopis","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Six cases of congenital myotonic dystrophy are described. Only two survived the neonatal period. There were seven neonatal deaths in the immediate families and six reported miscarriages. Of the two survivors one is moderately retarded and the other at 9 months is at the developmental level of 5-6 months. Facial diplegia and depressed deep tendon reflexes are clues to the presence of neonatal myotonic dystrophy and the diagnosis is confirmed by examining the mother who will show some of the features of the disorder. Infants may also present with non-specific respiratory problems, hypotonia and poor sucking.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"74-6"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14332745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DNA probes in Charcot-Marie-Tooth neuropathy. Charcot-Marie-Tooth神经病变的DNA探针。
Australian paediatric journal Pub Date : 1988-01-01
G A Nicholson, L R Griffiths, J G McLeod
{"title":"DNA probes in Charcot-Marie-Tooth neuropathy.","authors":"G A Nicholson,&nbsp;L R Griffiths,&nbsp;J G McLeod","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed-probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"90-1"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14332747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW. 具有新南威尔士州杜兴和贝克肌营养不良家族的DNA分析经验。
Australian paediatric journal Pub Date : 1988-01-01
G Morgan, J A Donald, J Chen, S Serravalle, P Colley, M J Denton
{"title":"Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW.","authors":"G Morgan,&nbsp;J A Donald,&nbsp;J Chen,&nbsp;S Serravalle,&nbsp;P Colley,&nbsp;M J Denton","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"98-9"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14332749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nerve-muscle interactions in the embryo. 胚胎中神经-肌肉的相互作用。
Australian paediatric journal Pub Date : 1988-01-01
N G Laing
{"title":"Nerve-muscle interactions in the embryo.","authors":"N G Laing","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Nerve and muscle develop in the embryo through a process of continuous interaction. Some of these interactions have been known in simple fashion for some time, for example, that full development of muscle requires the presence of innervating nerves and vice versa. However, the mechanisms by which the interactions proceed are still largely unknown and current re-examination of nerve-muscle interactions in the embryo are providing interesting insights into, among other things, the development of fast and slow muscle fibres and mutual recognition by muscles and nerves.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"40-2"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14191925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Biochemical defects in mitochondrial cytopathies: a new classification. 线粒体细胞病变的生化缺陷:一种新的分类。
Australian paediatric journal Pub Date : 1988-01-01
E Byrne
{"title":"Biochemical defects in mitochondrial cytopathies: a new classification.","authors":"E Byrne","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Current classifications of mitochondrial cytopathies neglect rigorous assessment of the literature which consists often of single case reports. In addition no attempt is made by many workers to distinguish between primary and secondary respiratory chain defects. Current biochemical classifications also fail to take into account the considerable number of patients who have ragged red fibre myopathies and lactic acidosis but who do not show demonstrable respiratory enzyme defects. For this reason a new approach is advocated with consideration of possible respiratory chain defects, probable primary respiratory chain defects, probable secondary respiratory chain defects, and mitochondrial cytopathies with normal respiratory chain enzyme function in vitro. Existing knowledge is reviewed under these categories to which are added further original observations.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"58-61"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14191928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Update on the molecular genetics of Duchenne muscular dystrophy. 杜氏肌营养不良症分子遗传学研究进展。
Australian paediatric journal Pub Date : 1988-01-01
T Siddique, R Bartlett, M Pericak-Vance, L Yamaoka, J Koh, J Chen, W Y Hung, R Kandt, A D Roses
{"title":"Update on the molecular genetics of Duchenne muscular dystrophy.","authors":"T Siddique,&nbsp;R Bartlett,&nbsp;M Pericak-Vance,&nbsp;L Yamaoka,&nbsp;J Koh,&nbsp;J Chen,&nbsp;W Y Hung,&nbsp;R Kandt,&nbsp;A D Roses","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Three separate lines of evidence led to the assignment of the Duchenne muscular dystrophy (DMD) gene to the 21.2 band on the short arm of the X chromosome. A portion of the putative gene, thought to extend over 1-2 million base pairs has been recently cloned. DNA probes from the Xp21.2 region detect large deletions in 5-20% DMD boys and are presumed to lead to the DMD phenotype in those individuals. Deletions have also been noted in the DNA of patients with Becker muscular dystrophy. These exciting developments have a direct bearing on carrier detection and prenatal diagnosis. Prenatal diagnosis in deletion families approaches greater than 99% accuracy and can be utilized to save 50% of normal male fetuses carried by carrier mothers who would otherwise choose to abort all male fetuses.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"9-14"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14191932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systematic gene mapping in man: data management considerations. 人类的系统基因定位:数据管理方面的考虑。
Australian paediatric journal Pub Date : 1988-01-01
M A Pericak-Vance, W Y Hung, L Yamaoka, C Haynes, R J Bartlett, J M Vance, J Lee, T Siddique, P C Gaskell, J Stajich
{"title":"Systematic gene mapping in man: data management considerations.","authors":"M A Pericak-Vance,&nbsp;W Y Hung,&nbsp;L Yamaoka,&nbsp;C Haynes,&nbsp;R J Bartlett,&nbsp;J M Vance,&nbsp;J Lee,&nbsp;T Siddique,&nbsp;P C Gaskell,&nbsp;J Stajich","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The application of recombinant DNA technology to linkage analysis is revolutionizing the gene mapping field through the availability of an increasing number of restriction fragment length polymorphisms (RFLP). The successful mapping of the human genome will lead to a new era of research in human genetics with implications for carrier detection and prenatal diagnosis in any number of disorders. In addition, the development of RFLP tightly linked to a disease is critical for the potential identification of the genetic defect. A systematic approach to human gene mapping whereby it is possible to simultaneously screen several disorders for linkage is discussed. Guidelines for the database management, field studies, DNA and lymphoblast cell transformation, family history and laboratory data are included. This methodology represents the integration and application of statistical and molecular genetic, clinical and tissue culture expertise to human gene mapping.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"87-9"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14041380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New techniques in diagnosis, assessment of progression and research in muscular dystrophy. 肌萎缩症诊断、进展评估及研究的新技术。
Australian paediatric journal Pub Date : 1988-01-01
L Stern
{"title":"New techniques in diagnosis, assessment of progression and research in muscular dystrophy.","authors":"L Stern","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A number of imaging techniques has been used in Duchenne muscular dystrophy and other neuromuscular conditions. Ultrasound reflects the changes occurring in muscle and allows differentiation between myopathies and neuropathies. It may also be of help in deciding where to take a needle biopsy. Computerized tomography (CT) has been used to assess progression over a 6 month period in Duchenne dystrophy. The density changes observed on CT scans give an accurate indication of progression and will be a useful tool in clinical trials. CT scans of obligate carriers of Duchenne dystrophy showed lower muscle densities than male controls. Magnetic resonance imaging also accurately reflects pathological changes in muscle. A pilot project to improve respiratory muscle strength and endurance showed that it was possible to improve endurance. A longer term project is currently being carried out to improve respiratory muscle endurance by the use of computer games connected to a thermistor. A certain inspiratory effort is required to continue the games, which provide the motivating factor.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"34-6"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14191983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Human mitochondrial respiratory chain deficiencies. 人类线粒体呼吸链缺陷。
Australian paediatric journal Pub Date : 1988-01-01
J A Morgan-Hughes, A H Schapira, J M Cooper, D J Hayes, J B Clark
{"title":"Human mitochondrial respiratory chain deficiencies.","authors":"J A Morgan-Hughes,&nbsp;A H Schapira,&nbsp;J M Cooper,&nbsp;D J Hayes,&nbsp;J B Clark","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In this paper selected data from 43 patients with histologically defined mitochondrial myopathies who have been investigated biochemically as previously described are presented. The defect was localized to NADH-ubiquinone oxidoreductase (complex I) in 22 cases and to ubiquinol-cytochrome c oxidoreductase (complex III) in a further 10. Two patients had defects of more than one respiratory enzyme complex and another had a deficiency of H+-ATPase. The lesion was not localized in two cases and in vitro mitochondrial studies were normal in five cases.</p>","PeriodicalId":75574,"journal":{"name":"Australian paediatric journal","volume":"24 Suppl 1 ","pages":"55-7"},"PeriodicalIF":0.0,"publicationDate":"1988-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13986438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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