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1.
The renal Fanconi syndrome which results from renal tubular dysfunction can be either associated with various inbom errors of metabolism or acquired from various etiology. We report a case of gentamycin-induced Fanconi syndrome in a 4-month old infant who presented with aminoaciduria, glucosuria, phosphaturia and compensated metabolic acidosis.  相似文献   
2.
Free iron in serum has been found in several disease conditions including diabetes. In the present work, we studied the relationship between free iron, fasting blood glucose (FBG) and glycated haemoglobin (HbA1c). Study was carried out on 50 type 2 diabetes cases under poor glycemic control associated with complications, 53 type 2 diabetes cases under good glycemic control and 40 healthy controls. We estimated free iron, both ferrous (Fe+2) and ferric (Fe+3) form, protein thiols, lipid hydroperoxides, FBG, HbA1c and serum ferritin levels in serum. There was a significant increase in free iron in Fe+3 state (p <0.01), HbA1c (p<0.01), serum ferritin (p<0.01), lipid hydroperoxides (p<0.01) and significant decrease in protein thiols (<0.01) in diabetes cases under poor glycemic control compared to diabetes cases under good glycemic control and healthy controls. Free iron correlated positively with HbA1c (p<0.01). Poor glycemic control and increase in glycation of haemoglobin is contributing to the increase in free iron pool which is known to increase oxidant generation.  相似文献   
3.
Currently available method(s) for assaying pyrroline-5-carboxylate (P5C), an important intermediate metabolite of ornithine, proline and glutamate metabolic pathways, are cumbersome or not sensitive enough for microanalysis. The present study involving the synthesis of P5C followed by purity check, molecular mass (amu =113.1) determination by mass spectrometry and spectral characterization of P5C-ninhydrin derivative (λ max: 510 nm) confirmed the authenticity of the preparation. Studies on the effect of pH on spectral characteristics of P5C ninhydrin derivative demonstrated a significant change with respect to λ max (620 nm) and several ∼ 12 fold increase in molar extinction coefficient (ε: 1.96 × 105) in alkaline conditions (pH:7.0–8.0) as compared to the reported Molar ε of 1.65 × 104 at max λ 510 nm in ethanolic solution. The modified method, with the improved sensitivity, is adopted for the assay of ornithine amino transferase activity in WBC’s/platelets lysate(s) from human blood.  相似文献   
4.
Leg power is an essential component for success in sports and athletic performance. Therefore, the leg power measurement may help athletes, coaches, athletic trainers, and rehabilitation specialists in selecting, treating, and training athletes for a specific sport. Using a conventional 'jump and reach' test, one can accurately predict the leg power and success in anaerobic-type sports. Nineteen untrained male subjects performed 'jump and reach' vertical jumps on a force platform. Power values were calculated from the force versus time data obtained from the force platform. A regression equation was obtained to predict the power values using the weight of an individual and the 'jump and reach' height as independent variables. The regression equation is given by p = -666.3 + 14.74 [Mass (kg)] + 1925.72 [Height (m)]; [R-square = 0.69, p < 0.05].  相似文献   
5.
Coronary artery disease (CAD) has become the most common cause of mortality in the entire world. Homocysteine is implicated as an early atherosclerotic promoter. We studied the relationship between levels of serum homocysteine with severity of coronary artery disease. Total of 70 subjects who scheduled for coronary angiogram consented to participate in this study. In all the patients Gensini scoring system was used to assess the severity of CAD. Venous samples were taken from the patients in fasting state before angiography. Homocysteine levels in patients were measured by enzyme linked immunosorbant method and were compared with respective Genseni scores of participants. Fasting serum homocysteine levels in CAD patients were significantly higher than patients without coronary artery disease (p < 0.001). Also Homocyseine levels correlated significantly with increasing severity of CAD (p < 0.001). Serum homocysteine levels correlated well with the severity of CAD.  相似文献   
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7.
Even in the era of expanded newborn screening, utility of cord blood thyroid stimulating hormone (cTSH) for diagnosis of congenital hypothyroidism (CH) cannot be marginalised. This study was to assess the diagnostic utility of cTSH > 20 μIU/L for screening CH. Generation of new cTSH value was the main outcome measure, to increase specificity. Designed as a cross-sectional analytic study in the neonatal unit of teaching hospital, 1200 term neonates with birth weight ≥2500 g, with no perinatal complications were included. Newborn cTSH assay was done by chemi-luminescence. All screen positive were followed up on day five, 14 and 28 of life, to rule in or out CH (true or false positive). Positive predictive value and specificity were calculated. Receiver operating characteristic (ROC) was done to assess diagnostic accuracy of cTSH > 20 μIU/L and to ascertain new cut-off to reduce false positivity. Of 1200 newborns screened, 69 (5.8%) were screen positive and followed up. In five, CH was confirmed (true positive); one in 240 newborns required thyroxine therapy. False positivity was noted in 59. Recall and dropouts were 6.25 and 7.2% respectively. Median cTSH of screen, true and false positives were 28.8, 43.5 and 27.2 μIU/L respectively. Comparison of median values of cord blood (U = 59; p = 0.017) and day five serum TSH (U = 0.0; p < 0.001) among true and false positive subjects were statistically significant. Specificity calculated was 94.6% and positive predictive value 7.25%. ROC generated new permissible cTSH cut-off value of 30 μIU/L. In conclusion, an extended cTSH cut-off value of 30 μIU/L improves specificity.  相似文献   
8.
Total thiol status of plasma, especially thiol groups over protein contributes maximum to the plasma antioxidant status of the body. Serum protein thiols were found to be decreased in various disease conditions including chronic renal failure patients. Only few studies determined the levels of urinary protein thiols in disease conditions. The current study was designed to know the levels of urinary protein thiols in patients with different grades of proteinuria. The study was conducted on urine of 40 healthy controls and 61 cases with proteinuria. Based on proteinuria cases were further divided into two groups; group I - microproteinuria (150–300 mg protein/d), 32 cases, group II - frank proteinuria (>300 mg protein/d), 29 cases. Urinary thiol levels were determined by spectrophotometric method using dithionitrobenzoic acid. A significant decrease (p<0.01) in urinary thiol in group I and group II cases was observed in present study and this decrease was associated with proteinuria.  相似文献   
9.
Maple Syrup Urine Disease is an autosomal recessive disorder caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. This rare disorder represents one of the causes of acute neonatal illness which results in devastating disturbances of neurological development. On investigation of 1750 infants with neurological impairment for inborn errors of amino acid metabolism, 4 neonates with classical maple syrup urine disease were detected. These otherwise normal neonates presented in the first week after birth with seizures, lethargy and refusal of feeds, hypoglycemia and metabolic acidosis. The plasma and urine concentrations of the branched-chain amino acids were increased and there was ketoaciduria. Two of these neonates expired before specific treatment could be instituted. Routine biochemical screening of neonates with acute illness could unearth many cases of this rare inherited metabolic disease.  相似文献   
10.
Elastase activity was found to be significantly increased in periodontitis (0.872±0.4270 absorbance units/mg protein, mean±S. D., 1.05±0.61 units/ml saliva), gingivitis (0.772±0.416 units/mg protein, 1.515±0.952 units/ml) and diabetes (0.549±0.286 units/mg protein, 1.20±0.769 units/ml) compared to normals (0.255±0.089) units/mg protein, 0.264±0.079 units/ml). Chymotryptic activity was not found to be increased in these disease conditions over the normal level (0.284±0.096 units/mg protein). Aminopeptidase activity was elevated only in periodontitis (0.670+0.140 units/mg protein) compared to normals (0.349±0.100 units/mg protein). Trypsin-like activity was also found to be significantly raised in periodontitis compared to normals when Pro-Phe-Arg-p-nitroanilide (0.666±0.204 units/mg protein), Ile-Pro-Arg-p-nitroanilide (1.59±0.260 units/mg protein) and Pyroglu-Pro-Arg-p-nitroanilide (1.82±0.380 units/mg protein) were used as substrates. The normal values with these three substrates were respectively, 0.454±0.110, 1.04±0.231 and 1.15±0.312 units/mg protein. Total protein level in saliva was found to be significantly elevated in gingivitis (209±66.8 mg/dl) and diabetes (204±68.0) compared to normal values (107±20.7). Increase in periodontitis was marginal (127±28.3 mg/dl). Expression of proteolytic activities normalized to protein level was useful in differential diagnosis. Increase in elastase level in saliva is not a specific marker for periodontal diseases.  相似文献   
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