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At least 1,063 records · Page 59Linked to original sources
PubMed1979

Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency.

1. Jejunal biopsy specimens from three children with congenital sucrase-isomaltase deficiency were assayed for disaccharidase activity and were subjected to analytical subcellular fractionation with enzymic microanalysis. 2. By use of the highly sensitive fluorigenic modification of the disaccharidase assay, brush-border sucrase and isomaltase activities were depressed but nevertheless detectable in each child. 3. Apart from the expected decrease in brush-border alpha-glucosidase activity, the other enterocyte marker-enzyme activities were normal. 4. There were no abnormalities in the enterocytes of any child on analytical subcellular fractionation or on electron microsocopy.

Acetylglucosaminidase↗
PubMed2001

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

Lamellar ichthyosis, one form of congenital autosomal recessive ichthyosis, is caused by mutations in the gene (TGM1) encoding the transglutaminase 1 enzyme. Mutations, deletions, or insertion of TGM1 have been reported so far. Here we report that three novel mutations of TGM1, D101V, N288T, and R306W, cause lamellar ichthyosis in two different families. The patient in family LI-KD has N288T and R306W mutations, and the patient in family LI-LK has D101V and R306W mutations. The activity of the transglutaminase 1 enzyme of the patient in family LI-LK was only about 15% of normal. Also, three-dimensional structural prediction analyses revealed that the N288T and R306W mutations, and possibly the D101V mutation, cause misfolding in the central catalytic core domain of the transglutaminase 1 enzyme that would probably result in reduced enzyme activity. Our data suggest that the greatly reduced transglutaminase 1 activities are due to disruptions of the native folding of transglutaminase 1, and that these mutations may play a critical role in the pathology of lamellar ichthyosis.

Amino Acid Substitution↗
PubMed1998

Tyrosine hydroxylase and insulin-like growth factor II but not insulin are adjacent in the teleost species barramundi, Lates calcarifer.

In humans, the genes encoding tyrosine hydroxylase (TH), insulin and insulin-like growth factor II (IGF-II) form an extremely tight linkage group on chromosome 11p15. Characterisation of the homologous genomic region of a teleost, the barramundi Lates calcarifer, revealed tight linkage of the TH and IGF-II genes, and the absence of the gene encoding insulin.

Animals↗
PubMed2003

Generation of a conditionally immortalized myeloid progenitor cell line requiring the presence of both interleukin-3 and stem cell factor to survive and proliferate.

The H-2Kappab temperature-sensitive (ts) A58 transgenic (Immorto) mouse has been used previously to generate conditionally immortalized cells from a number of tissues. The present study aimed to investigate characteristics of primitive myeloid precursor cells derived from H-2Kappab-tsA58 bone marrow. Cell populations were enriched for granulocyte/macrophage progenitors by centrifugal elutriation, and were cultured in the presence and absence of cytokines at the permissive and restrictive temperatures for the A58 oncogene. Cells derived from H-2Kappab-tsA58 mice required both A58 activation and the growth factors, stem cell factor (SCF) and interleukin-3 (IL-3), for long-term cell survival and growth; cells were maintained for > 300 d in culture under these conditions. IL-3- and SCF-dependent clonal cell lines were derived with a phenotype (lin-, Sca-1+, CD34+, ER-MP 58+, ER-MP 12+, ER-MP 20-) characteristic of primitive myeloid progenitors. These cells differentiated on addition of granulocyte/macrophage colony-stimulating factor (GM-CSF) or macrophage colony-stimulating factor (M-CSF) and acquired mature cell morphology with some upregulation of differentiation markers. In conclusion, the A58 oncogene can immortalize haemopoietic progenitor cells. These cells require two cytokines for growth, IL-3 and SCF; as such, they constitute a useful resource for the study of synergistic interactions between growth factors. The ability to develop monocytic cell characteristics also permits the investigation of cytokine-mediated early haemopoietic progenitor cell development.

Animals↗
PubMed1997

Reported infant feeding, oral hygiene and dental attendance patterns in children aged 5 years and under referred for extraction of teeth under general anaesthesia.

This study was designed to examine reported infant feeding, oral hygiene, and dental attendance practices in children who had established dental disease before attaining school age. Data were collected by structured interview from the mothers of 150 children aged 5 years and under who were referred to a hospital Paediatric Dentistry Unit for the extraction of teeth under general anaesthesia. Few children in this study had been exclusively breast-fed, and, although unconfirmed by data derived from matched caries-free controls, the development of dental caries would appear to be related to prolonged bottle-feeding, including the use of a night-time bottle until just before weaning, the early introduction and regular consumption of larger than average amounts of confectionery, coupled with reportedly regular but unsupervised toothbrushing. Although decay was already established in over a third of children before they visited a dentist for the first time, little evidence of restorative care was found. It would appear that the primary care services fail this youngest age-group.

Age Factors↗
PubMed2001

Changes in masticatory muscle activity according to food size in experimental human mastication.

The purpose of this study was to investigate the changes in masticatory muscle activity according to food size in human mastication. Sixteen subjects performed deliberate unilateral chewing of similarly cone shaped hard gummy jellies weighing 5 and 10 g. The masseter and anterior temporal muscle activity on both sides was recorded for the first 10 strokes. The normalized muscle activity during the chewing of the 10 g jelly was significantly higher than that of the 5-g jelly, and there was a considerably high significant correlationship between the muscle activity during the chewing of the 10- and 5-g jellies in each muscle on each side. The 10 g/5 g jelly ratio for the masseter muscle activity on the non-chewing side almost coincided with the theoretical energy ratio required to shear, although that of the chewing side was lower than the ratio. The 10 g/5 g jelly ratio for the temporal muscle activity on both sides almost coincided with the food height ratio. The results suggest that anterior temporal and masseter muscle activity changes according to the rate of change in the height of hard coherent food bolus and food resistance required to shear, respectively, during mastication.

Adult↗
PubMed2000

Prognostic value of soluble intercellular adhesion molecule-1 (s-ICAM-1) in HIV-infected children.

Central events in the host defence system and immune-mediated damage are tightly regulated by cell adhesion molecules. Sera from 28 human immunodeficiency virus (HIV)-1 infected children divided into groups according to disease severity, six seroreverting (SR) children and 25 healthy controls were studied to detect the presence of soluble intercellular adhesion molecule-1 (s-ICAM-1). Soluble ICAM-1 levels were found to be significantly increased in HIV-infected children in comparison with SR children or healthy controls. Levels of soluble ICAM-1 were higher in patients with severe forms of HIV-infection than in those with a milder form of the disease. Significant differences in titers of s-ICAM-1 were recorded between SR children and HIV-infected children with mild disease or healthy controls. There was a significant correlation between s-ICAM-1 levels and the concentrations of beta 2 microglobulin (beta 2m) and, to a lesser extend, immunoglobulin A levels (IgA). Soluble ICAM-1 levels didn't change considerably in HIV-infected children in stable clinical conditions, independently of their clinical stage of the disease, during a follow-up period of 9-12 months. Conversely, s-ICAM-1 levels increased simultaneously with the appearance of new well-defined clinical disorders or decreased during the improvement of clinical conditions. A significant negative correlation was recorded between the titers of the s-ICAM-1 and the CD4(+) T-cell levels. These results suggest that the s-ICAM-1 might be another useful tool to evaluate disease progression.

Child↗
PubMed1997

Citrate metabolism by human platelets.

As part of a study on the utilization of substrates by platelets in defined media the metabolism of citrate was measured, since citrate is a common anticoagulant of nearly all such media, and is also an intermediate of oxidative metabolism. Human platelets transferred from plasma to an artificial medium by gel filtration, were incubated with [14C]citrate at 22 degrees C and labelled carbon dioxide produced was measured during short-term incubations of 2 h. Citrate (1 mM) was oxidized to carbon dioxide at low (0.3 nmol per 10(9) platelets h-1) but significant rates, and the oxidation was decreased by the presence of an alternative substrate (acetate) in the medium. There was, however, no significant conversion of citrate to glycogen. It was calculated that under normal storage conditions of platelet concentrates for transfusion purposes, the amount of citrate used cannot decrease citrate concentrations sufficiently to bring about platelet activation.

Blood Platelets↗
PubMed1998

Salicylate toxicity masquerading as malignant hyperthermia.

We report a case of hyperpyrexia presumed due to topical salicylate toxicity occurring immediately following general anaesthesia for appendicectomy in an eleven year old boy. Some of the features strongly suggested the diagnosis of malignant hyperpyrexia.

Administration, Topical↗