Australian Paediatric Journal[JOURNAL]
Sun
200 papers
Australian paediatricians and the new morbidity: a national survey of changing paediatric practice patterns.
Oberklaid F
Aust Paediatr J · 1988 Feb · PMID 2451498 · Publisher ↗
General paediatricians across Australia were surveyed to determine whether their practice reflected the commonly held assumption that paediatrics was changing, with an increased emphasis on ambulatory and community care...
General paediatricians across Australia were surveyed to determine whether their practice reflected the commonly held assumption that paediatrics was changing, with an increased emphasis on ambulatory and community care and involvement with conditions comprising the new morbidity. A 10 page questionnaire was mailed to every paediatrician in the Australian College of Paediatrics directory of members considered to be practising general paediatrics. Of a total of 287 questionnaires distributed, 224 were returned (response rate 80.9%). Two-thirds of respondents practised in a capital city, while the remaining third were divided equally between isolated paediatricians and those who practised in a provincial city. Only 15 paediatricians (6.8%) spent more than half their time involved in inpatient care, while 60% spent less than one-fifth of their time with inpatients. There was no correlation between inpatient involvement and length of paediatric practice, but surprisingly there was a significant trend (P = 0.007) for paediatricians practising in a capital city to do more inpatient work. Respondents were provided with a list of eight conditions held commonly to comprise the new morbidity, and there was a strong response indicating an increase in children seen with these conditions over the past 5 years, as well as a decrease in children with clearly identifiable organic disease. Furthermore, respondents indicated in absolute terms the numbers of patients seen in the past month with each of the conditions. Results confirmed the significant numbers of children seen with conditions comprising the new morbidity, their increased presentation to paediatricians in the past 5 years and the predominance of non-inpatient work in consultant paediatric practice in Australia.
Early behaviour, development and parenting in a very low birthweight infant group.
English BJ, Parry TS, Donovan M
Aust Paediatr J · 1988 Feb · PMID 2451497 · Publisher ↗
Thirty-seven mothers, their very low birthweight infants and a matched group of term infants of normal birthweight and their mothers were seen when the infants were 12 months old (corrected for prematurity). Data were co...
Thirty-seven mothers, their very low birthweight infants and a matched group of term infants of normal birthweight and their mothers were seen when the infants were 12 months old (corrected for prematurity). Data were collected about infant behaviour and development, mother-infant interaction in a free-play situation, and parenting behaviour indicating child-centred care. Findings for the mother-infant dyads in the two birthweight groups were compared to determine the extent to which the data supported possible outcomes of: differences in behaviour/development only, differences in behaviour/development compounded by disturbances of interaction or parenting, or interaction/parenting disturbances despite apparently normal behaviour and development. Results of this analysis indicated significantly poorer scores for the very low birthweight infants on measures of behaviour and development only. Recent reports that interactional problems, which commonly exist early on, resolve through a process of mother-infant adaptation are discussed in light of the findings of this study. The need to consider developmental problems and interactive failure jointly if early intervention is to be offered is also examined.
Postgraduate training in paediatrics: analysis of deficiencies as perceived by paediatricians.
Oberklaid F
Aust Paediatr J · 1988 Feb · PMID 2451496 · Publisher ↗
A listing of all general paediatricians in the country was obtained from the directory of members of the Australian College of Paediatrics. Each of the 287 paediatricians identified was sent a questionnaire requesting in...
A listing of all general paediatricians in the country was obtained from the directory of members of the Australian College of Paediatrics. Each of the 287 paediatricians identified was sent a questionnaire requesting information about morbidity patterns of patients seen in their practices and their views regarding paediatric training. The response rate was 80.9%. Half the respondents had been in practice for 10 years or less, while two-thirds practised in a capital city. Respondents rated their training in each of 10 organic specialty areas, on average, as having been appropriate. However, when given a listing of nine areas related to child development and behaviour, chronic disease and counselling, 70% rated training in these areas as having been inadequate; this figure was even higher for recent graduates. Less than one-third had formal training in developmental, behavioural and community paediatrics; the remaining two-thirds of respondents acquired their knowledge by clinical experience, books or journals, professional contacts or meetings. This was despite the fact that almost 80% of respondents felt that practical experience was not an adequate substitute for formal training in developmental and behavioural paediatrics. There was an encouraging trend for paediatricians who had been in practice for 10 years or less to have had training in these areas, although the number was still less than half. Almost 90% of respondents felt that changes were needed in paediatric training to equip trainees for general paediatric practice, while 62% of respondents were of the opinion that the present FRACP training system mitigated against appropriate training for general paediatrics.(ABSTRACT TRUNCATED AT 250 WORDS)
Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW.
Morgan G, Donald JA, Chen J … +3 more , Serravalle S, Colley P, Denton MJ
Aust Paediatr J · 1988 · PMID 3202741
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 i...
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.
Application of DNA probes to carrier detection and prenatal diagnosis of Duchenne (and Becker) muscular dystrophy.
Mulley JC, Gedeon AK, Haan EA … +5 more , Sheffield LJ, White SJ, Bates LJ, Robertson EF, Sutherland GR
Aust Paediatr J · 1988 · PMID 3202740
Thirty-four Duchenne and Becker muscular dystrophy families were initially ascertained from South Australia. These have been tested systematically with the DNA probes XJ1.1 and pERT87-15. DNA results from 21 informative...
Thirty-four Duchenne and Becker muscular dystrophy families were initially ascertained from South Australia. These have been tested systematically with the DNA probes XJ1.1 and pERT87-15. DNA results from 21 informative families have been combined with results of CK testing. Pedigree analysis was carried out using the computer program LINKAGE to provide risk figures to potential female carriers. This simple approach separated potential carriers into low or high risk classes (familial cases) or low or moderate risk classes (isolated cases). No prenatal diagnoses were carried out. The detection of deletions in two probands out of 34 makes possible definitive prenatal diagnosis in those families. For the remaining families, prenatal diagnosis could only be offered in terms of a probability statement after linkage analysis. Risk figures presented from hypothetical pedigrees demonstrated that prenatal diagnosis by linkage usually provided reasonable reliability only where informative flanking markers are used.
DNA probes in Charcot-Marie-Tooth neuropathy.
Nicholson GA, Griffiths LR, McLeod JG
Aust Paediatr J · 1988 · PMID 3202739
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 t...
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.
Congenital myopathies.
Shield LK
Aust Paediatr J · 1988 · PMID 3202738
A retrospective review of 55 children with the clinical (pre-biopsy) suspicion of a congenital or metabolic myopathy was undertaken. After investigations, 45% remained unclassified. The only statistically significant dif...
A retrospective review of 55 children with the clinical (pre-biopsy) suspicion of a congenital or metabolic myopathy was undertaken. After investigations, 45% remained unclassified. The only statistically significant differences between this unclassified group and the others were that males with a history of progressive disease were more likely to have a definable myopathy, while 'neuropathic' features were more common in the unclassified group.
Neonatal myotonic dystrophy.
Cunningham A, Procopis PG
Aust Paediatr J · 1988 · PMID 3202737
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 moder...
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.
A pilot trial of plasma infusions in Duchenne muscular dystrophy.
Arthur H, Austin L, Roberts LJ
Aust Paediatr J · 1988 · PMID 3202736
It has been proposed that a defect in tocopherol transport may lead to a chronic vitamin deficiency in Duchenne muscular dystrophy (DMD). To test this hypothesis, a pilot clinical trial which involved the infusion of toc...
It has been proposed that a defect in tocopherol transport may lead to a chronic vitamin deficiency in Duchenne muscular dystrophy (DMD). To test this hypothesis, a pilot clinical trial which involved the infusion of tocopherol-laden plasma was carried out. An increased uptake of tocopherol into erythrocyte membranes during infusions failed to produce a significant reduction in plasma enzyme levels or to arrest the dystrophic process in the two children examined. Further studies to investigate treatments with increased amounts of tocopherol, in conjunction with other antioxidants, may prove a more fruitful avenue of research.
Becker and Duchenne muscular dystrophy: a comparative morphological study.
Dennett X, Shield LK, Clingan LJ … +1 more , Woolley DA
Aust Paediatr J · 1988 · PMID 3202735
It is important to be able to clearly differentiate between Duchenne (DMD) and Becker (BMD) muscular dystrophies in early childhood in order to offer more accurate prognostic information to parents. In response to this n...
It is important to be able to clearly differentiate between Duchenne (DMD) and Becker (BMD) muscular dystrophies in early childhood in order to offer more accurate prognostic information to parents. In response to this need, biopsies from BMD and DMD patients were compared to see which features, if any, allowed a differentiation to be made. Fifteen biopsies of vastus lateralis muscle from boys with the mild (BMD) X-linked muscular dystrophy were compared with 19 biopsies from patients with the severe (DMD) form using a variety of histochemical and morphometric parameters. Both forms showed many similarities including increases in fibre variation, percentages of Type 1 fibres, internal nuclei counts, split and fragmented fibres and groups of fibres attempting regeneration. Hypercontracted and necrotic fibres, interstitial inflammatory cells and endomysial connective tissue were more commonly increased in DMD. Fibre hypertrophy was initially prominent, particularly in DMD boys until 5 years of age and in BMD patients until approximately 10 years, thereafter the mean fibre sizes became smaller than normal. Type 2B deficiency was again common in DMD as well as occurring in some BMD cases. Nuclear aggregates and small group atrophy were more likely to be found in BMD. In the absence of morphological criteria to accurately discriminate between DMD and BMD, classification of young affected males with muscular dystrophy into one or other groups, remains a difficulty in the first decade of life.
Muscular dystrophy and related diseases. Proceedings of the Second Australian Rotary Health Research Fund Conference. Sydney, 26-28 November 1986.
Aust Paediatr J · 1988 · PMID 3202734
Abstract loading — click title to view on PubMed.
Association of lower motor neuron disorders with fasciculation, neuromyotonia and myoclonus.
Lance JW
Aust Paediatr J · 1988 · PMID 3144266
Fasciculations may be generated at any point on a hyperexcitable lower motor neuron. Physiological ('benign') fasciculations often begin suddenly and persist for years without development of muscular wasting or weakness....
Fasciculations may be generated at any point on a hyperexcitable lower motor neuron. Physiological ('benign') fasciculations often begin suddenly and persist for years without development of muscular wasting or weakness. Fasciculations may be a sign of degeneration of lower motor neurons in which case they may be associated with muscle cramps and neuromyotonia. Both sensory and motor axons are overactive in neuromyotonia, the symptoms of which are relieved by administration of anticonvulsants such as carbamazepine. Spinal muscular atrophy is a feature in some cases of progressive myoclonic epilepsy of the systems degeneration type that may be overlooked because muscular wasting is overshadowed by the dramatic appearance of action myoclonus.
Update on the molecular genetics of Duchenne muscular dystrophy.
Siddique T, Bartlett R, Pericak-Vance M … +6 more , Yamaoka L, Koh J, Chen J, Hung WY, Kandt R, Roses AD
Aust Paediatr J · 1988 · PMID 3060079
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 milli...
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.
Recombinant DNA techniques in medicine.
Brown GK
Aust Paediatr J · 1988 · PMID 3060078
Medical applications of recombinant DNA technology are reviewed. The main impact of these techniques has been in the diagnosis of genetic disease and analysis of the underlying mutations. Two different methods can be use...
Medical applications of recombinant DNA technology are reviewed. The main impact of these techniques has been in the diagnosis of genetic disease and analysis of the underlying mutations. Two different methods can be used for the diagnosis of genetic disease. When the gene defect is known and DNA probes are available, it may be possible to establish the diagnosis directly. In many cases, however, the gene is unknown or the mutation cannot be detected easily. In these situations, it may still be possible to make a diagnosis. The genotype can be determined indirectly by linkage analysis using sequence variations which alter restriction sites (restriction fragment length polymorphisms) and DNA probes for loci close to the disease locus. Recombinant DNA techniques have also led to a process of 'reverse' genetics for identification and analysis of the causes of genetic disease. Genes can be located, isolated and characterized without any prior knowledge of their function. The nature of the gene product can then be determined and its role in the disease process defined.
Myotonic dystrophy: update on progress to define the gene.
Roses AD, Pericak-Vance MA, Bartlett RJ … +7 more , Yamaoka LH, Lee JE, Koh J, Chen JC, Gilbert JR, Ross DA, Herbstreith MH
Aust Paediatr J · 1988 · PMID 3060077
Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restric...
Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restriction fragment length polymorphisms which were developed in the laboratory from flow-sorted chromosome 19 genomic libraries. In over 500 family members from five families only a single cross-over with ApoC2 was detected. Thus a useful probe for antenatal and preclinical diagnosis is now available. Details of the strategy employed within the framework of clinical diagnosis, genetic epidemiology and recombinant DNA techniques is described.
Biochemical defects in mitochondrial cytopathies: a new classification.
Byrne E
Aust Paediatr J · 1988 · PMID 3060076
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 primar...
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.
Lower motoneuron trophic factors and lower motoneuron death: effects and mechanisms.
Raju TR, Bennett MR
Aust Paediatr J · 1988 · PMID 3060075
The characterization of trophic factors for the survival of embryonic montoneurons in vitro is described. Current knowledge and experiments in progress are reported. It seems that trophic support for motoneurons is deriv...
The characterization of trophic factors for the survival of embryonic montoneurons in vitro is described. Current knowledge and experiments in progress are reported. It seems that trophic support for motoneurons is derived from all the cells which they contact during development.
Development of cell density gradients in the retinal ganglion cell layer of marsupials.
Beazley LD, Dunlop SA, Harman AM … +1 more , Coleman LA
Aust Paediatr J · 1988 · PMID 3060074
An area centralis and visual streak, specializations of high cell density in the mammalian retinal ganglion cell layer, develop from a more uniform cell distribution. In the wallaby and kangaroo, this transition is first...
An area centralis and visual streak, specializations of high cell density in the mammalian retinal ganglion cell layer, develop from a more uniform cell distribution. In the wallaby and kangaroo, this transition is first seen 60 days postnatally. Total live cell numbers in this layer fall by approximately one-third as these specializations start to appear and dying cells are seen. However, dying cells have already become concentrated at the retinal rim prior to the emergence of live cell density gradients. Our results suggest that cell death may partially sculpt patterns of live cells, particularly by lowering densities around the entire far periphery. Studies of cell division demonstrate that ganglion cells are generated and enter the ganglion cell layer before the area centralis and visual streak are formed. However, cell addition to the inner and outer nuclear layers continues as cell density gradients become apparent in the ganglion cell layer. Furthermore, this late cell generation ceases first in areas adjacent to the presumptive area centralis. The differential distribution of such prolonged cell addition to the inner and outer nuclear layers may result in an asymmetric expansion of the retina. This process would partially explain the changing topography of cells in the ganglion cell layer. Mathematical analysis of patterns of overall retinal growth support this interpretation.
Nerve-muscle interactions in the embryo.
Laing NG
Aust Paediatr J · 1988 · PMID 3060073
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 pr...
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.
Observations on the pathogenesis of Duchenne muscular dystrophy in the light of recent progress in molecular genetics.
Kakulas BA
Aust Paediatr J · 1988 · PMID 3060072
The gene on the X chromosome which, when abnormal, causes Duchenne muscular dystrophy (DMD) is estimated to be at least 1800 kb in length, making it possibly the largest in the entire human genome. Cloned mRNA derived fr...
The gene on the X chromosome which, when abnormal, causes Duchenne muscular dystrophy (DMD) is estimated to be at least 1800 kb in length, making it possibly the largest in the entire human genome. Cloned mRNA derived from the gene indicates that it codes for a protein with a molecular weight of approximately 400,000 daltons. This protein, which is expressed in very low concentration (one molecule to each of 15 muscle nuclei), has been named dystrophin. It is anticipated that the molecular biology of dystrophin will now be elucidated quickly so that its function in the cell is revealed and steps to correct the biochemical defect initiated. It is also possible that the gene codes for a family of proteins and that these reside within the intermediate filament system of the cytoskeleton. Candidate proteins are spectrin, nebulin and titin, as well as dystrophin. In the light of these advances in the molecular genetics of DMD, it is timely for the myopathologist to suggest possible mechanisms of aetiopathogenesis for the disorder. In this regard the first unequivocal lesion in muscle biopsies in DMD is focal muscle fibre necrosis. Electron microscopy (EM) reveals excessive hypercontraction of sarcomeres, especially in the early stages. These hypercontracted zones correspond to the 'hyalinized' muscle fibres typical of the disorder. It seems possible that such hypercontractions cause tears in the plasma membrane of the muscle fibre which may be weakened by an abnormality of the intermediate filaments which underlie the lipid bilayer.(ABSTRACT TRUNCATED AT 250 WORDS)
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe