Showing papers by "Hospital for Sick Children published in 1987"
TL;DR: Examination of the 5′‐flanking sequences of the murine EPA/TIMP gene reveals a set of repeated elements with structural similarity to those previously described as inducer‐responsive elements in the human IFN‐beta 1 gene.
Abstract: A genomic clone encompassing the entire coding region of a murine gene homologous to human erythroid potentiating activity/tissue inhibitor of metalloproteinase (EPA/TIMP) was isolated and sequenced. Based on alignment with human EPA/TIMP cDNAs we deduce a structure comprising five exons and four introns extending over 4.3 kb of DNA. In mouse and hamster cell lines transcription from this gene and interferon genes is induced by Newcastle Disease virus (NDV). Examination of the 5'-flanking sequences of the gene reveals a set of repeated elements with structural similarity to those previously described as inducer-responsive elements in the human IFN-beta 1 gene. The 4.3-kb DNA fragment encompassing the homologous murine EPA/TIMP gene was transfected into human T98G cells and transfectants tested for NDV inducibility. In contrast to the endogenous human gene, the integrated murine EPA/TIMP gene was NDV-inducible and TIMP activity was detectable in the cell culture fluid.
81 citations
TL;DR: This test allows a rapid genetic classification of FA patients which appears to be a prerequisite for investigations of the biochemical defect(s) in FA.
Abstract: The two genetic complementation groups reported for Fanconi's anemia (FA) correspond to two phenotypic classes as characterized by measurements of the rate of DNA semiconservative synthesis after 8-methoxypsoralen photo-addition. This test allows a rapid genetic classification of FA patients which appears to be a prerequisite for investigations of the biochemical defect(s) in FA.
71 citations
TL;DR: The high frequency of ventricular arrhythmia after repair of tetralogy of Fallot cannot be attributed to the effect of operation alone because in the majority of patients it was already present before operation.
Abstract: Ventricular arrhythmia is common after repair of tetralogy of Fallot. Such arrhythmia could be caused by damage at surgical repair or it could be part of the course of the disease. Fifty patients, 32 aged 1-7 years and 18 aged 13-43 years at surgical repair, underwent 24 hour electrocardiographic monitoring before and 2-75 (mean 44) months after repair. Before operation none of the younger group had appreciable ventricular arrhythmia, whereas ventricular arrhythmia was already present in eight (45%) of 18 patients in the older group. At follow up ventricular arrhythmia was present in four patients from the younger group and seven from the older group. Three of these four younger patients had had insertion of a conduit from the right ventricle to the pulmonary artery or reoperation. Six of the seven older patients had had appreciable ventricular arrhythmia before operation. New ventricular arrhythmia developed in only two (5%) of the 43 patients who had uncomplicated repair of tetralogy of Fallot. Thus the high frequency of ventricular arrhythmia after repair of tetralogy of Fallot cannot be attributed to the effect of operation alone because in the majority of patients it was already present before operation. Preoperative ventricular arrhythmia occurred almost exclusively in older patients; this suggests that early surgery may reduce the occurrence of this late complication.
70 citations
TL;DR: The results revealed a limited resilience of language to the effects of early hydrocephalus, and hydrocephalics were either less skilled or less able to maintain age-appropriate skill mastery than normal peers within particular language domains.
Abstract: How adequate a substrate for the development of language is the young hydrocephalic brain? To answer this question, the development of five language domains (word finding, fluency and automaticity, immediate sentence memory, understanding of grammar, and metalinguistic awareness) was studied in children and adolescents, 75 with hydrocephalus in the first year of life, and 50 normal controls. The results revealed a limited resilience of language to the effects of early hydrocephalus. Resilience was indicated by the finding that, for several language skills, hydrocephalics scored at comparable levels to normals and improved their test performances as they matured. The limits to resilience were also apparent. Language development was not uniform after early hydrocephalus, and, within particular language domains, hydrocephalics were either less skilled or less able to maintain age-appropriate skill mastery than normal peers. Early hydrocephalus had diverse effects on language development: Of the variables measuring its forms, manifestations, and treatments, some were indicative of preserved language functioning while others were predictive of language deficit. The young hydrocephalic brain mediates language development in a manner that is adequate, but far from ideal.
68 citations
TL;DR: Using a myelin proteolipid protein (PLP) cDNA as probe, a 1kb cDNA was isolated from a human retinal cDNA library as discussed by the authors.
42 citations
01 May 1987
TL;DR: Homology between the DNA sequence at the 5' end of the deletion and the donor splicing consensus sequence suggests that PLP and DM-20 transcripts are derived from a single PLP gene by alternate splicing.
Abstract: Using a myelin proteolipid protein (PLP) cDNA as probe, a homologous 2 Kb cDNA was isolated from a human retinal cDNA library. This clone, designated pDM-20, contained all of the coding sequence of PLP except for 105 bp of sequence which encodes amino acids 116 to 150 of PLP. This in frame deletion resulting in the absence of 35 amino acids from intact PLP would reduce the molecular weight by 4385, resulting in a protein of the size of DM-20, the second major proteolipid of CNS myelin. The finding is also in agreement with the evidence from preliminary sequencing of bovine DM-20 protein which indicated the deletion of residues 100-140. Homologies between DNA sequences at the 5' and 3' ends of the DM-20 deletion and the donor and acceptor slicing consensus sequences, respectively, are suggestive that PLP and DM-20 transcripts are derived from a single PLP gene by alternate splicing. The DM-20 deletion comprises a strongly positively charged hydrophilic segment which is believed to be orientated cytoplasmically. The availability of probes capable of distinguishing PLP and DM-20 mRNAs will enable the elucidation of temporal and spatial control of their expression in the CNS.
42 citations
TL;DR: Evidence is presented indicating that a measure of prenatal growth rate predicts right hemispheric specialization for nonverbal processing in extra X males, whereas levels of testosterone, estradiol, luteinizing hormone, and follicle-stimulating hormones do not.
40 citations
TL;DR: Tubular secretion appears to be a major route of the renal elimination of digoxin and does not appear to be associated with the anionic or cationic transport systems, nor the Na+/K+-ATPase receptor.
Abstract: Tubular secretion appears to be a major route of the renal elimination of digoxin. Secretion of the drug by the tubules is modulated by renal blood flow, by a number of commonly coadministered drugs (e.g. quinidine, spironolactone, verapamil, amiodarone), and by age. The maximal transport capacity does not appear to be achieved with clinically relevant concentrations. The tubular transport of digoxin does not appear to be associated with the anionic or cationic transport systems, nor the Na+/K+-ATPase receptor. Further studies are needed to elucidate the exact mechanisms involved in the transtubular movement of the glycoside.
31 citations
23 citations
TL;DR: DNA-fragments from the region of the long arm of human chromosme 7 to which the CF-locus has been mapped recently were isolated by microdissection and microcloning and a new fixation procedure was developed resulting in inserts of 1.0–7.0 kb with a mean value of 2.9 kb.
Abstract: DNA-fragments from the region of the long arm of human chromosme 7 to which the CF-locus has been mapped recently were isolated by microdissection and microcloning. We developed a new fixation procedure resulting in inserts of 1.0–7.0 kb in length with a mean value of 2.9 kb. Regional mapping of three clones on 7q was carried out by the use of different hybrid cell lines containing fragments of human chromosome 7.
22 citations
TL;DR: The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover and an abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharides containing one fucose and two galactose residues.
Abstract: We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect.
TL;DR: Microdefects in the tubing may contribute to delayed calcification of Silastic shunt tubing and clinical consequences of this calcification are discussed.
Abstract: CSF shunts removed from seven patients 5–12 years after placement were studied. Examination in each case revealed gritty mineral deposits adherent to the external surface. The deposits were further analyzed by routine histology, spectroscopy and scanning electron microscopy. Calcium deposition is time related. There is little evidence that infection contributes to the phenomenon or that it is a foreign body or an immune response. Calcification of biomedical prostheses has proven to be a problem in other situations, most notably in cardiovascular prostheses. Calcification of the silicone based pumping diaphragm of the artificial heart has occurred in several species.
Journal Article•
TL;DR: Recombinant human leukocyte interferon was studied to determine its potential as a therapeutic agent for the lethal monocytic malignancy of infancy, juvenile chronic myelogenous leukemia, and it is suggested that IFN may be useful for treatment of this disorder.
TL;DR: Three language factors concerned with lexical access were identified as discrete, that is, as isolable from other language functions in a brain-damaged population, and also as distinct, that was, as having a characteristic set of brain damage features that sustain or disrupt them.
Abstract: Functional distinctions within the language domain can be used to parse the young damaged brain. Parsing means resolving something into its component parts and describing them; parsing the young damaged brain with language involves selecting and grouping features of early brain damage according to how they sustain or disrupt the language performance of brain-injured children and adolescents. And the nature of neural representation for language can be inferred from such brain parsing. Three language factors concerned with lexical access were identified as discrete, that is, as isolable from other language functions in a brain-damaged population, and also as distinct, that is, as having a characteristic set of brain damage features that sustain or disrupt them. Criteria were also outlined for judging the lexical access factors as autonomous, that is, as able to maintain their boundaries with other language functions in the face of brain damage.
TL;DR: Exercise testing can be performed safely in cystic fibrosis patients, and provides a simple and reproducible index of overall health in the disease.
Abstract: Exercise testing can be performed safely in cystic fibrosis patients, and provides a simple and reproducible index of overall health in the disease. A wide variability in exercise capacity of cystic fibrosis patients is found, but, in general, exercise is limited by the degree of lung disease and, to a lesser extent, by compromised nutritional status. Based on the results of exercise tests, patients can then be supplied with individualised exercise prescriptions. Exercise training can be expected to improve the exercise capacity of the majority of cystic fibrosis patients, but pulmonary function generally remains unchanged. Whether exercise rehabilitation will improve the long term prognosis for patients with cystic fibrosis is currently not known.
01 Jan 1987
TL;DR: In 1973, Mulholland published a collection of poems written to and about her child who had died of leukaemia as discussed by the authors and the shortest said simply: "Worst of all was the agony Of not knowing What you knew."
Abstract: In 1973 Claire Mulholland published a collection of poems written to and about her child who had died of leukaemia. The shortest said simply:
Worst of all was the agony Of not knowing What you knew.
TL;DR: In this article, the potential developmental and behavioral effects of mid-trimester genetic amniocentesis were examined, and compared between infants whose mothers had this diagnostic test and control infants yielded no differences in the neonatal period or at age 6 months.
Abstract: The present study examined potential developmental and behavioral effects of midtrimester genetic amniocentesis. Comparisons between infants whose mothers had this diagnostic test and control infants yielded no differences in the neonatal period or at age 6 months. The continued need for longitudinal studies is discussed.