摘要:

SummaryThe monovalent and divalent anion transport in red blood cells from patients with cystic fibrosis and controls is not significantly different. The protein pattern of the erythrocyte membrane, as seen by sodium dodecyl sulfate‐polyacrylamide gel electropherograms, is similar in cystic fibrosis and control red blood cells. The 2,3‐diphosphoglycerate content of the investigated cystic fibrosis red blood cells is normal.AbbreviationsDIDS, 4,4'‐diisothiocyanate‐1,2‐diphenylethane‐2,2'‐disulfonic acidCF, cystic fibrosis2,3‐DPG, 2,3‐diphosphoglycerateSDS, sodium dodecyl sulfate

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryTwo children in a family with five siblings were investigated because of low levels of fibroblast arylsulfatase A activity. Neither child had metachromatic leukodystrophy (MLD) and they were diagnosed as having benign pseudo arylsulfatase A deficiency trait (PD). Analysis of arylsulfatase A subunit profiles in fibroblasts provided data for genotype assignments for each family member. Father and mother were assigned an n/pd and n/mld phenotype, respectively. The low enzyme siblings were both assigned pd/mld; two of the three normal enzyme siblings were assigned an n/n phenotype and one an n/mld.AbbreviationsMLD, metachromatic leukodystrophyPD, pseudo arylsulfatase A deficiencyN, normal

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryA 3‐week‐old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. Biochemical studies showed markedly decreased succinate‐cyto‐chromecreductase and rotenone‐sensitive NADH‐cytochromecreductase activities, while other mitochondrial enzymes were normal. In isolated mitochondria, cytochrome spectra showed a severe defect of reducible cytochromeband a less marked defect of cytochromecc1, while the content of cytochromeaa3(cyto‐chromecoxidase) was normal. Histiocytoid cardiomyopathy appears to be due to a defect of complex III (reduced coenzyme Q‐cytochromecreductase) in the respiratory chain of heart mitochondria.

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryTwo experimental animal models exhibiting functional and morphologic changes of exocrine glands similar to those seen in patients with cystic fibrosis (CF) have been reported in the rat: chronic stimulation with reserpine (Martinezet al.1973 Pediatr. Res. 9:463, 470) and chronic stimulation with isoprenaline (Sturgess and Reid 1973 Br. J. Exp. Pathol. 54:388). We have studied the pulmonary function of these models induced by injecting rats subcutaneously with reserpine (RES, 0.5 mg/kg/day), isoproterenol (ISO, 25 mg/kg/day), or saline (Con, 1.0 ml/kg/day) for 6 days. Plethysmorgraphic measurements were made for functional residual capacity (FRC), airways resistance (Raw), specific airways conductance (sGaw), phase difference between air flow rate and mean alveolar pressure (PD), frequency of breathing (f), and tidal volume (VT) of the anesthetized rats. In the RES and ISO rats, the FRC, Rawand f were not different from Con values. The PD was greater and the VTwas less than Con values (p< 0.05). The results of both studies indicate uneven ventilation (increased PD) andpenduluft(decreased VT) consistent with maldistribution of resistance and/or compliances of the peripheral airways and/or alveolar compartments. These physiologic effects can be related to the morphologic changes reported for the airways of rats under chronic adrenergic stimulation (ISO) and expected for rats under chronic catecholamines depletion (RES). Since peripheral airways involvement is usually the earliest pulmonary lesion found in CF, these studies indicate that the RES and ISO models may be representative of the early pulmonary involvement of CF.AbbreviationsCF, cystic fibrosisRES, reserpineISO, isoproterenol sulfateCon, saline

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryThe detection of enzymatic deficiency in cultured amniotic cells from second trimester pregnancies is presently used for prenatal diagnosis of lysosomal diseases. The possibility of obtaining and processing trophoblast tissue at 8‐10 weeks of gestation would permit first trimester prenatal diagnosis. Using trophoblast tissue samples from normal fetuses before voluntary abortion and from placenta after therapeutic abortions of fetuses affected by several lysosomal diseases, we conclude that early diagnosis of lysosomal disorders would be possible.

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryIn order to test the hypothesis that there are ultrastructural and supramolecular differences between fetal and adult erythrocyte membranes that are manifested in their functional characteristics, the cells were studied by freeze‐etching and transmission microscopy and biochemical methods. Freeze‐etching and transmission electron microscopy of fetal erythrocyte membranes showed that the protoplasmic and exoplasmic fracture faces have 24% and 45% greater intramembrane particles respectively compared to adult cells (p< 0.01). The apparent diameters of the intramembrane particles estimated on the exoplasmic fracture face averaged as follows: 4.84, 7.74, 11.42, and 15.64 nm, which are similar to estimates in adult cell membranes, suggesting similar dimensions for the presumptive glycoprotein structures in the fluid mosaic complex of the cell membranes. The average total cholesterol, phospholipid, and protein content per fetal erythrocyte ghost as well as ratios of protein/lipid, protein/cholesterol, and protein/phospholipids were all significantly greater than in the adult ghost (p< 0.01). Analysis of fetal and adult ghost proteins by sodium dodecyl sulfate‐polyacrylamide gel electrophoresis showed similar qualitative and quantitative polypeptide and glycopeptide bands except for the intense appearance of bands 4.5 and 8 in the fetal samples. Polypeptide chains per ghost membrane were significantly greater in fetal ghosts than in adult ghosts. However, the molar ratios of the major polypeptides relative to band 3, the predominant protein in the ghost membrane, are comparable for the two cell types except for bands 4.5 and 8. These findings suggest that the molecular characteristics of the erythroid plasma membrane vary with the developmental age.AbbreviationsRBC, red blood cellIMPs, intramembrane particlesPF, protoplasmic fracture faceEF, exoplasmic fracture faceSDS‐PAGE, sodium dodecyl sulfate‐polyacrylamide gel electro‐phoresisHb, hemoglobinPAS, periodic acid‐Schiff reagent

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

摘要:

SummaryDeficient arylsulfatase A activity in man has long been associated with the neurodegenerative disease, metachromatic leukodystrophy. However, similar deficiency has been noted in clinically normal individuals, and is referred to as the pseudoarylsulfatase A deficiency condition. Although direct quantitative analysis of arylsulfatase A activity failed to differentiate between these two conditions, analysis of residual arylsulfatase A activity with either Cellogel electrophoresis or isoelectric focusing in polyacrylamide gels now has been shown to distinguish between them unequivocally. With both techniques, cultured fibroblasts from patients with pseudo‐arylsulfatase A deficiency showed faint but clear bands of arylsulfatase A activity. Under identical conditions, fibroblasts from patients with metachromatic leukodystrophy showed no trace of activity. These methods can be adapted easily for general laboratory analysis in cases when results from quantitative arylsulfatase A assays are noninformative.AbbreviationsARSA, arylsulfatase AMLD, metachromatic leukodystrophy4‐MUS, 4‐methylumbelliferyl sulfatep‐NCS,p‐nitrocatechol sulfatePD, pseudo‐arylsulfatase A deficiency

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID

ISSN:0031-3998    

出版商:OVID    

年代:1984

数据来源: OVID