摘要:

Two women had each borne a child who had alpha1-antitrypsin (α1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetescopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean α1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an α1AT concentration calculated as 0.60 g/liter,i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of α1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of α1AT deficiency.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

Menkes fibroblasts contain a significantly greater amount of cysteine-rich 10,000 dalton copper-binding protein(s) (metallothionein) than normal cells. Mutant fibroblasts incorporated 30 to 40% more tritiated amino acids into 10,000 dalton protein(s) than normal cells. The protein(s) was deficient in aromatic amino acids. The amount of35-cysteine incorporated by the same protein(s) in Menkes fibroblasts was twice that of normal fibroblasts. Comparison of the35S:3H isotopic ratios of chromatographic fractions of both normal and Menkes cell lysates showed that only the proteins eluted in the 10,000 dalton peak were enriched in35S-cysteine, and this ratio was always greater in Menkes than in normal cells. The 10,000 molecular weight35S-cysteine- and3H-amino acid-labeled peaks coincided with the84Cu peak in both cell strains. The copper-labeled peak was always greater in Menkes than in normal cells. No difference in the84Cu:35S isotopic ratio in the 10,000 dalton peak was observed between normal and Menkes fibroblast strains. This finding shows the direct relationship between the amount of cysteine-rich 10,000 dalton protein(s) and the amount of84Cu bound by this protein(s) in both Menkes and normal fibroblasts. DEAE-cellulose ion-exchange chromatography resulted in a further two-fold enrichment of the 10,000 dalton, sulfur-rich proteins that were eluted from the Sephadex G-75 column. Most of the labeled proteins from both normal and Menkes fibroblasts were eluted from the ion-exchange column in a single peak at a chloride concentration of approximately 30 mM. Poly-acrylamide disc gel electrophoresis of pooled fractions of the 10,000 dalton proteins eluted from the G-75 column and the DEAE-cellulose ion-exchange column showed no consistent differences in the staining pattern between normal and mutant fibroblast strains. When the acrylamide gels were sliced and subsequently counted for radioactive content, no band showed a further increase in the35S:3H isotopic ratio when compared to the electrophoresed samples that were eluted from the Sephadex G-75 or the ion-exchange columns. Also, no significant increase in the amount of radioactivity associated with a specific protein band could be demonstrated between the Menkes and the normal fibroblast strains.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

The effects of parenteral vitamin E treatment on aspects of the pulmonary biochemical and morphologic response to 100% oxygen were studied in newborn rabbits manifesting chemical evidence of vitamin E deficiency. Pups treated with 2 mg/100 g body weight increased serum vitamin E levels from 0.39 to 2.17 mg/dl by 72 hr and lung tissue vitamin E content from 3.52 to 17 mg/mg wet weight of lung.In vitrolipid peroxidation in lung homoginates of animals in 100% oxygen for 72 hr was inhibited by approximately 80% in animals receiving 100% oxygen plus vitamin E. Hyperoxia-induced increases in the pulmonary antioxidant enzymes, super-oxide dismutase, glutathione peroxidase, and glutathione reductase were diminished by vitamin E administration. Lungs from vitamin E-treated animals did not show the early lung epithelial injury seen in animals exposed to 100% oxygen but not treated with vitamin E. Mophometric analysis of lungs of animals in room air for 72 hr showed 81.6% of lung to be normal as compared with 43.3% normal lung in the group maintained in 100% oxygen for 72 hr. In the group treated with oxygen plus vitamin E., the lungs were similar to room air controls (82.6% normal). This study thus provides further evidence for a direct antioxident affect of vitamin E in lung.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

We banded the trachea of 4-wk-old male rats and studied lung growth, lung morphometry, and static pulmonary mechanics 4 wk later. We compared the experimental animals to sham-operated male littermates of the same age, 8-wk-old normal male litter-mates, and weight-matched rats of a younger age. Tracheal banded animals were smaller and had significantly smaller absolute lung volumes, fewer alveoli, larger interalveolar wall distances, and increased alveolar duct size compared to the other groups. Their lung volumes were significantly smaller than were those of weight-matched controls. Air-filled pressure-volume curves from the tracheal ligation group were shifted to the left and upward when expressed as a percentage of total lung capacity or by fitting exponentials to the pressure-volume curves. There was no difference in saline-filled pressure-volume curves. We conclude that tracheal banding slows somatic growth and alters normal lung growth. Loss of elastic recoil appears to be due to alteration of surface forces.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

In 24 conscious newborn piglets the effects of 20 μg/kg body weight IV 1-deamino-8-d-arginine-vasopressin (DDAVP) in group 1,5 mg/kg PO indomethacin in group 2, and the combined effects of both drugs in group 3 were studied by measuring urinary flow rate, urinary osmolatity, creatinine clearance, total urinary and nephrogenous cyclic-adenosine 3':5'-monophosphate (cAMP) excretion, medullary cAMP content, and renal prostaglandin (PG)E2and PGF20, excretion. DDAVP alone had no significant effects on the above parameters, whereas indomethacin alone reduced only the PG excretion significantly. When both drugs were administered simultaneously, urinary concentration increased significantly (urinary flow rate decreased from 2.4 × 0.4 to 1.4 × 0.3 ml/hr (means × S.E.), and urinary osmolality increased from 444 × 29 to 552 × 33 mOsm/liter). Total urinary and nephrogenous cAMP excretion increased from 590 × 48 to 854 × 78 and 302 × 36 to 590 × 81 pmoles/hr/g kidney weight, respectively, whereas PGE2and PGF20decreased from 249 × 33 to 19 × 4 and 192 × 32 to 43 × 7 pg/hr/g kidney weight, respectively. In addition, medullary cAMP content was considerably higher in group 3 (2010 × 200 pmoles/g medulla) than that observed in the control (1187 × 137), DDAVP (1218 × 115), and indomethacin (1230 × 168) groups.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

Previous data have suggested an age-related increase in renal tubular secretion of digoxin in infants and children receiving long-term digoxin therapy. This phenomenon could be the result of a maturational process or secondary to chronic substrate stimulation. To investigate this question, two groups of 2-week-old paired littermate rats received intraperitoneal injections of either digoxin or an equal volume of normal saline (control) on alternate days until sacrificed at 4, 6, and 8 wk of age. An additional group of 12-wk-old-rats were studied as controls.125I-labeled digoxin uptake was measured in renal cortical slices as the cPM/mg wet tissue slice/medium ratio (S/M). Both digoxin-treated and control rats demonstrated significant age-related increments in digoxin uptake. S/M ratios at 4, 6, 8, and 12 wk in the control group were 1.34 × 0.06, 1.39 × 0.14, 1.62 × 0.18 and 1.93 × 0.23, respectively (mean × S.D.) (r= 0.81;P< 0.001). S/M ratios in the digoxin-treated animals at 4, 6, and 8 wk were 1.28 × 0.16, 1.33 × 0.09, and 1.52 × 0.23, respectively (r= 0.50;P< 0.025), but did not differ significantly at each age from those in the control group.125I uptake was significantly reduced by both dinitrophenol and sodium azide, as well as by a 100% nitrogen atmosphere.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

This paper reports the results of a multielement analysis of postmortem samples of Menkes patients, of which one was untreated and two had been treated for various lengths of time with intramuscular injections of copper-EDTA. The findings have been compared with data from a Menkes fetus and from controls.The results confirm that copper accumulates in various tissues and demonstrate a further increase in copper levels as a result of the treatment with copper-EDTA. Although no clinical improvement was observed, the levels of some copper-containing enzymes normalized during the copper therapy. Furthermore, in agreement with the identification of the copper-binding protein in the kidney as metallothionein, it was found that not only copper, but also zinc, cadmium, and mercury are trapped in this tissue.A low copper concentration in the brain was also found in a Menkes fetus, indicating that brain damage might already have occurred before birth.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

摘要:

We hypothesized that skin fibroblasts from patients with neurofibromatosis (NF) may have abnormalities of growth in tissue culture to correlate with the clinical abnormalities of overgrowth and malignancy seen in this disease. Using five lines of NF cells, age- and passage-matched to normal controls, we found that NF fibroblasts grew more slowly and slopped growing at a lower population density than normal cells (P< 0.0005). The same cells also incorporated [3H] thymidine at a lower rate than normal skin fibrobasts (9,330 × 3,240versus42,100 × 6,840;P< 0.01), The addition of epidermal growth factor to the medium stimulated the growth of both the normal and the NF fibroblasts; however, the stimulation of the NF fibroblasts was inadequate to fully correct the slow growth rate (P< 0.025). NF cells (N= 5) were found to be morphologically different from normal skin fibroblasts (N= 5) in culture by light microscopy. NF cells were larger (approximately 9 x 104x 2 x 104versus2 x 104x 2 x 104A), pleomorphic, and failed to form confluent monolayers when growth ceased.

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID

ISSN:0031-3998    

出版商:OVID    

年代:1981

数据来源: OVID