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Genetic and non‐genetic factors that increase the risk of non‐syndromic cleft lip and/or palate development 下载免费PDF全文
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S Sampath BL Somani YV Sharma MM Arora VN Arabade 《Medical Journal Armed Forces India》2002,58(4):315-318
Ornithine carbamoyl transferase (OCT) activity and other liver function tests were studied in a total of 50 patients of clinical malaria and 15 controls. They were grouped as group I (positive for malarial parasite on peripheral blood smear, n=18), group II (negative for malarial parasite on peripheral blood smear (PBS) but responded to antimalarials, n=17) and group III (peripheral blood smear negative and did not respond to antimalarial therapy, n=15). The mean OCT levels were significantly raised in group I (6.79 ± 1.84 IU/L, p value = 0.006) and group II (5.0 ± 1.15 IU/L, p value = 0.014) as compared to controls (2.5 ± 1.13 IU/L) and returned to normal after treatment In contrast, group III had normal levels except in a case of kala azar and septicemia where OCT levels were high and increased further on treatment. Taking PBS positivity as a gold standard of diagnostic criteria, OCT had a sensitivity of 83% and specificity of 86% with a high positive predictive value of 88% as compared to ALT which had a lower sensitivity of 55% and specificity of 80%. The clinical response rate in PBS negative cases of fever having high OCT level was 83% as compared to 35% in cases with normal OCT level, making OCT a good surrogate marker of malaria. OCT levels could also be of prognostic significance as 2 cases of cerebral malaria had high OCT levels of 11.1 UAL and 10.7 IU/L, respectively.Key Words: Malaria, Ornithine carbamoyl transferase 相似文献
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V A Almazov V N Khirmanov A I Shcherbak A N Krutikov A R Danil'chenko I S Kireenkov 《Kardiologiia》1992,32(1):56-60
Blood levels of natriuretic hormones (atrial natriuretic peptide and digitalis-like natriuretic factor) were measured in 93 patients with Stages I and II essential hypertension and 31 healthy individuals. The baseline level of digitalis-like natriuretic factor was higher in the patients with Stage II essential hypertension than in the healthy individuals. This parameter was normal in the patients with Stage I hypertension. The concentration of atrial natriuretic peptide was not greatly different in the patients from that in the healthy persons. Water and salt loads were reported to affect the blood levels of natriuretic hormones. The levels of the hormones were shown to be correlated between them and with blood pressures and the activity of the renin-angiotension-aldosterone system. It was suggested that the natriuretic hormones might play a compensatory role in the pathogenesis of essential hypertension. 相似文献
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Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis 总被引:3,自引:0,他引:3
Recent biochemical studies have led to the identification of abnormal spectrins in the erythrocytes of patients with hereditary pyropoikilocytosis (HPP) and hereditary elliptocytosis (HE). In this report we describe the biochemical characterization of the erythrocytes from a proband with severe HPP who is doubly heterozygous for two mutant spectrins (Sp): Sp alpha I/74 and a new, previously undetected, mutant of alpha-spectrin designated Sp alpha I/61. The proband's erythrocytes are unstable when exposed to 45 degrees C, and her membrane skeletons exhibit instability to shear stress. The content of spectrin in the proband's erythrocyte membranes is decreased to 75% of control values. The amount of spectrin dimers in crude 4 degrees C spectrin extracts is increased (58%) as compared with control values (6% +/- 4%). Limited tryptic digestion reveals a marked decrease in the normal 80,000-dalton alpha I domain, an increase in the 74,000-dalton fragment that is characteristic of Sp alpha I/74, and an increase in a series of new fragments of 61,000, 55,000, 21,000, and 16,000 daltons. Both parents are asymptomatic, but they have increased amounts of spectrin dimers (17% to 25%). Limited tryptic digestion of the father's spectrin demonstrates the presence of a previously identified abnormal spectrin (Sp alpha I/74) that is characterized by a decrease in content of the 80,000-dalton peptide and an increase in concentration of the 74,000-dalton peptide. The mother's spectrin digests show a decrease in the amount of 80,000-dalton peptide and the formation of new peptides of 61,000, 55,000, 21,000, and 16,000 daltons. The data indicate that this severe form of HPP is due to the inheritance of two distinct abnormal spectrins, Sp alpha I/74 and a new spectrin mutant, Sp alpha I/61. 相似文献
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Long-term studies on congenital hepatic fibrosis in children 总被引:1,自引:0,他引:1
VN Perisic 《Acta paediatrica (Oslo, Norway : 1992)》1995,84(6):695-696
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