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1.
Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007–December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.  相似文献   

2.
As the oxygen tension of inspired air falls with increasing altitude in normal subjects, hyperventilation ensues. This acute respiratory alkalosis, induces increased renal excretion of bicarbonate, returning the pH back to normal, giving rise to compensated respiratory alkalosis or chronic hypocapnia. It seems a contradiction that so many normal people at high altitude should permanently live as chronic acid–base patients. Blood gas analyses of 1,865 subjects at 3,510 m, reported a P aCO2 (arterial carbon dioxide tension ± SEM) = 29.4 ± 0.16 mmHg and pH = 7.40 ± 0.005. Base excess, calculated with the Van Slyke sea level equation, is −5 mM (milliMolar or mmol/l) as an average, suggesting chronic hypocapnia. THID, a new term replacing “Base Excess” is determined by titration to a pH of 7.40 at a P aCO2 of 5.33 kPa (40 mmHg) at sea level, oxygen saturated and at 37°C blood temperature. Since our new modified Van Slyke equations operate with normal values for P aCO2 at the actual altitude, a calculation of THID will always result in normal values—that is, zero.  相似文献   

3.
The development of metabolic acidosis during cardio-pulmonary bypass (CPB) is a well recognized but poorly explained phenomenon. It has been hypothesized that it is purely a development after the delivery of pump prime. A retrospective study was conducted at our hospital on 68 patients who underwent elective coronary artery bypass grafting (CABG). Sampling of arterial blood was performed at three time intervals: (T1) Baseline, prior to induction; (T2) 5 minutes after initiation of CPB and prior to administration of cardioplegia solution; (T3) during rewarming prior to weaning the patient off CPB. Measurements of Na+, K+, Cl−, pH, pCO2, HCO3 −, Base excess, Anion gap, Strong ion difference at each collection point were performed. Results were analyzed in a quantitative manner. On delivery of pump prime, all patients' developed metabolic acidosis. However, it is very important to distinguish the metabolic acidosis as their management varies. Anion gap has been found to be useful in managing peri-operative metabolic acidosis.  相似文献   

4.
The concentration of serum lipid peroxides, tocopherol and glutathione peroxidase (GPx) activity was measured in 75 patients (43 males and 32 females) of different respiratory diseases aged 15–40 years. The results were compared with the values obtained from 100 healthy persons of comparabie age. The patients of respiratory diseases showed elevated levels of lipid peroxides with concomitant reduction of tocopherol and glutathione peroxidase activity. When these patients were categorised into different groups depending on the type of the disease like pulmonary tuberculosis (PT), chronic obstructive pulmonary disease (COPD), pulmonary tuberculosis and chronic obstructive pulmonary disease (PT and COPD) and suppurative lung disease (SLD). There was no significant difference between the groups. A significant inverse relation was found between lipid peroxides versus tocopherol and glutathione peroxidase activity in patients of respiratory diseases. The results suggest the involvement of lipid peroxidation process in pulmonary damage.  相似文献   

5.
Vitiligo is an idiopathic, acquired, circumscribed, hypomelanotic skin disorder, characterized by milky white patches of different sizes and shapes. It is due to the destruction of melanocytes resulting in the absence of pigment production of the skin and mucosal surfaces. Oxidative stress has been implicated in pathophysiology of vitiligo. To study the activity of blood Superoxide dismutase (SOD) and Glutathione peroxidase (GPx) in vitiligo patients. A case–control study was conducted in which 100 patients were enrolled after written consent. 50 cases were of active vitiligo and 50 served as control (25 healthy control and 25 with stable vitiligo). SOD—In our study, among the active vitiligo cases 90% had high level of SOD and 10% had normal level of SOD. Among the stable vitiligo controls, 92% had normal level of SOD and 8% had low levels of SOD.The difference between active vitiligo cases and stable vitiligo control as well as with healthy control was statistically significant (P value < 0.05). GPx—Among the active vitiligo cases 74% had normal GPx levels, 22% had low and only 4% had high levels of GPx. Among the stable vitiligo controls, 64% had normal GPx levels, 16% had low, and 20% had high levels of GPx. The difference between active vitiligo cases and stable vitiligo control as well as with healthy control was statistically not significant (P value > 0.05). Our study shows that oxidative stress is involved in the pathophysiology of vitiligo, as indicated by the high levels of serum superoxide dismutase activity.  相似文献   

6.
Breast cancer is a hormone dependent neoplasm. Conflicting results regarding the clinical correlation between breast cancer and thyroid diseases have been reported. The objective of this study was to determine the association of anti — TPO levels in patients having complaints of a lump in breast. Serum samples and Fine needle aspiration cytology (FNAC) samples were collected from 31 female patients with a lump in breast between the age group of 20–75 years. 31 age matched normal healthy controls were also examined for the same parameters. Serum samples were analyzed for its anti — TPO levels. FNAC reports confirmed patients as having duct cell carcinoma. They had raised serum anti — TPO levels compared to controls. FNAC results of others (n=26) were reported as fibroadenoma whose anti — TPO levels were less than the controls.  相似文献   

7.
Little is known of conditions which influence the stability of urinary enzymes upon storage in the bladder at 37°C. Using a continuous flow system simulatingin vivo conditions, we studied the influence of the pH of urine on the stability of two renal parenchymal enzymes N—Acetyl—β—D—Glucosaminidase (2—acetamido—2—deoxy—β—D—glucoside acetamidodeoxy glucohydrolase, NAG, EC 3.2.1.30) and L—Alanine aminopeptidase (Aminopeptidase N, AAP, EC 3.4.11.2). This continuous flow model that we have described can be employed to study the influence of pH on the stability of any renal enzyme excreted in urine. We also studied thein vitro effects of varying concentrations of low molecular weight regulatory metabolites such as urea, creatinine and uric acid and of some drugs excreted in urine, on the assay of these two enzymes. Urinary pH, urea content and some antibiotics seem to influence measured urinary NAG and AAP activities and we therefore express the need for caution before diagnostic interpretation of the urinary enzyme activities are made.  相似文献   

8.
The aim of this study is to delineate laboratory diagnostic strategies for subclinical hypothyroidism in patients who are clinically symptomatic but may have a normal thyroid profile. Tri — iodothyronine (T3), thyroxine (T4), thyroid stimulating hormone (TSH) and anti thyroid peroxidase antibodies (anti-TPO) were estimated on fasting blood samples from 99 patients using electrochemiluminescence methods on ELECSYS 1010 (Roche). 74% of study subjects had elevated anti-TPO levels.61% patients had subclinical hypothyroidism. 45 of the 61 subclinical hypothyroid patients had elevated anti-TPO levels (73%). This is an important finding suggesting an autoimmune etiology for subclinical thyroid dysfunction with a higher risk of developing overt hypothyroidism.  相似文献   

9.
This study confirms the fact that in different respiratory disorders, the status of plasma oxidants and antioxidants shifts from normal. The status of oxidants in plasma as represented by malondialdehyde (MDA) levels increased significantly in the conditions of chronic obstructive pulmonary disease (COPD), emphysema, bronchiectasis and bronchial asthma. The two vitamin antioxidants vitamin C and vitamin E showed decreased levels than in controls. In patients with COPD the endogenous antioxidant viz. reduced glutathione (GSH) estimated from whole blood was comparable to that of control group, whereas in patients with emphysema, bronchiectasis and bronchial asthma, GSH concentration was increased to that of control group. The activity of enzyme superoxide dismutase (SOD) was significantly decreased in all study groups. Pulmonary function tests were found to have no correlation with MDA and antioxidants  相似文献   

10.
A number of factors are linked with non-alcoholic fatty liver diseases (NAFLD), a condition that ranges from clinically benign fatty liver to its more severe form, non alcoholic steatohepatitis (NASH). In this study, we evaluated the role of cytokines secreted from adipose tissue in the pathogenesis and progression of NAFLD. We also compared anthropometric profile, lipid profile and insulin resistance data in 105 NAFLD patients with 77 normal subjects. These subjects showed a normal serum albumin level, prothrombin time and renal function but elevated aminotransferases. Predisposing factors were diabetes mellitus (35%), overweight (56%) and hyperlipidemia (44%). Insulin resistance (IR), determined by homeostasis model assessment (HOMA) was confirmed in 70% patients with NAFLD and 42% patients fulfilled the minimum criteria for insulin resistance syndrome (IRS). NAFLD patients showed elevated levels of pro-inflammatory cytokines tumor necrosis factor (TNF)-α, and interleukin (IL)-6, while anti-inflammatory cytokines IL-4 level decreased and IL-10 level remain unchanged; however, TGF-β1 level elevated significantly compared to normal subjects. While insulin level and HOMA-IR both were significantly positively correlated with BMI, waist-to-hip ratio, total cholesterol, VLDL-cholesterol, triglyceride and TGF-β1; glucose, IL-6 and TNF-α levels were significantly positively correlated with HOMA-IR only. In conclusion, pro-inflammatory cytokines play an important link between metabolic and liver disorders in the fat accumulation, and thereby cause IR, inflammation and liver fibrosis.  相似文献   

11.
The present study was conducted to study the significance of lactate as a prognostic marker in patients of septic shock with acute respiratory distress syndrome. This study was conducted on 50 critically ill patients of septic shock with acute respiratory distress syndrome between the age group of 20–60 years and 50 controls. Plasma lactate and serum electrolytes were determined among controls and patients. Arterial blood gas analysis for pO2, pCO2 and pH was carried out among patients. Arterial base excess and anion gap were calculated and lactate was correlated with base excess, anion gap and pCO2 at 5% level of significance. Higher lactate, negative arterial base excess, high anion gap, low pO2 and high pCO2 were observed among patients. Lactate was positively correlated pCO2 and anion gap and negatively with pO2 and base excess among patients. Hyperlactatemia increasing with progression of septic shock with acute respiratory distress syndrome may suggest that lactate may be used as noninvasive prognostic marker or guide to resuscitation.  相似文献   

12.
In this study antioxidant activity of methanol extract of rhizomes ofCurculigo orchioides (MEC) was investigated using carbon tetrachloride (CCl4)-intoxicated rat liver as the experimental model. The hepatotoxic rats were administered MEC for 90 days (daily, orally at the dose of 70 mg per kg body weight). Lipid peroxidation (LPO) in CCl4-intoxicated rats was evidenced by a marked increment in the levels of thiobarbituric acid reactive substances (TBARS) and diene conjugates (CD), and also a distinct diminution in glutathione (GSH) content in the liver. In CCl4+MEC—treated rats these biochemical parameters attained an almost normal level. The decreased activity of antioxidant enzymes, such as superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX) and glutathione reductase (GRD) in CCl4—intoxicated rats, and its retrieval towards near normalcy in CCl4+MEC—administered rats revealed the efficacy of MEC in combating oxidative stress due to hepatic damage. Elevated level of glutathione transferase(GTS) observed in hepatotoxic rats too showed signs of retuming towards normalcy in MEC co-administered animals, thus corroborating the antioxidant efficacy of MEC. The findings provide a rationale for further studies on isolation of active principles and its pharmacological evaluation.  相似文献   

13.
A number of preparations are available in Ayurved for treatment of anemia and iron deficiency. This study was designed to evaluate efficacy of some of them. Six most commonly used Ayurvedic iron containing preparations (Navayasa Curna, Punarnavadi Mandura, Dhatri Lauha, Pradarantaka Lauha, Sarva-Juara-Hara Lauha and Vrihat Yakrdari Lauha) were given in a dose of 250 mg b.d. for 30 days to six groups of iron deficient anemic patients; each group consisting of 20 patients. A control group was given Allopathic preparation—Irex-12, (containing—ferrous fumarate, vitamin C, folic acid and vitamin B12); 1 capsule daily for 30 days for comparison. All hematological and iron parameters were determined before and after completion of treatment. The results showed that there was statistically significant rise (p<0.001) in all of them—Hb, PCV, TRBC, MCV, MCH, MCHC and plasma iron, percent saturation and plasma ferritin. Total iron binding capacity decreased significantly (p<0.001). The response of most of Ayurvedic preparations was better than Allopathic preparation and there was no side effect as observed with iron salts The Hb regeneration rate was 0.10 g/dl/day for Allopathic preparation; while it was above this value for all Ayurvedic preparations exceptPradarantaka Lauha which was least effective.Sarva-Juara-Hara Lauha was the drug of choice as Hb regeneration with it was highest 0.16 g/dl/day. Upon analysis of Ayurvedic drugs, these results were found to be consistent and correlated with iron content of the preparation.  相似文献   

14.
With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an "antioxidant", a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms.  相似文献   

15.
Indian black tea; CTC leaf and dust, produced by Tata Tea Limited, Kolkata, (India) was studiedin vitro as potential scavenger of oxygen free radicals. Super oxide anions were generated in a system containing xanthine—xanthine oxidase (enzymic system) and by NADH- phenozine methosulphate (non enzymic system). Anions were assayed in terms of uric acid formation and reduction of nitroblue tetrazolium salt, which were shown to be suppressed by tea extracts. Extracts from both leaf and dust also inhibted the formation of hydroxyl radicalsin vitro in the enzymic system comprising hypoxanthine—Cu+2—sodium ascorbate and xanthine oxidase and in non enzymic system of deoxyribose—Cu+2—sodium ascorbate and H2O2 as well as the Cu+2 induced lipid peroxidation in human low density lipoprotein. Feeding with black tea in normal rats for sixty days increased their antioxidant activity and their liver microsomes were shown to be protected against peroxidation of lipids as stimulated by metal ions with enzymic or non enzymic reactants. Furthermore feeding with tea extracts in normal as well as triton WR—1339 induced hyperlipidemic rats caused decrease in their plasma levels of total cholesterol, phospholipids and triglycerides. The antioxidant and lipid lowering activities of both extracts from CTC leaf and dust tea was comparable and may be due to the presence of natural products like catechin and others.  相似文献   

16.
The role of oxidant damage to red cells in sickle cell anaemia has been of interest in recent years. Although, available reports suggest that sickle cell erythrocytes are susceptible to endogenous free radical mediated oxidant damage there remains discrepancy in the status of antioxidant enzymes and antioxidant vitamins in these patients. In view of this, 107 cases of sickle cell anaemia (36 ‘SS’ and 71 ‘AS’ pattern—as confirmed by haemoglobin electrophoresis) were subjected to analysis of malondialdehyde, ascorbic acid, superoxide dismutase and albumin. The results were compared with 54 age and sex matched healthy controls. The results indicate a marked increase in lipid peroxidation and superoxide dismutase levels in both ‘SS’ and ‘AS’ types of sickle cell anaemia as compared to controls. Although no difference was observed in the levels of albumin in these groups the levels of ascorbic acid were significantly depleted in sickle cell anaemia patients. The results are indicative of enhanced lipid peroxidation along with imbalance in the pro-oxidant and antioxidant status in patients of sickle cell anaemia.  相似文献   

17.
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   

18.
The presentation of long-chain fatty acid oxidation disorders (FAOD), unlike short and medium-chain disorders can be with secondary defects in mitochondrial function along with typical features of FAOD. We report an infant with Reye-like presentation and acylcarnitine profile suggestive of very-long-chain acyl-CoA dehydrogenase deficiency who had lactic acidosis and urine gas chromatographic pattern of mitochondrial defects.  相似文献   

19.
Sepsis is associated with various metabolic derangements as a consequence of inflammatory response, ischemia and oxidative stress. Four parameters of relevance are procalcitonin (PCT), ischemia modified albumin (IMA) pH and lactate. The study was carried out to highlight the concomitant occurrence of sepsis, ischemia and lactic acidosis, all of which could have deleterious effects on organ function. 26 critically ill patients with a provisional diagnosis of sepsis were the test subjects. The control group had 25 apparently healthy volunteers. PCT, lactate and IMA were assayed. PCT was estimated on an automated analyser using electro-chemiluminescence. Lactate and pH were estimated on a blood gas analyzer. Serum IMA was estimated spectrophotometrically by Albumin Cobalt Binding Test. Statistical tools like students ‘t’ test and Venn diagram were employed to depict the outcome of the study. All critically ill patients had significantly higher IMA levels (0.96746 ± 0.73407) as compared to the control group (0.00728 ± 0.00895) with a p value of <0.0001. The Venn diagram was used to depict the finding that all 26 test subjects had elevated levels of IMA, of which PCT was elevated in 22 and lactate in 20. Both PCT and lactate were abnormal in 17 patients. The most significant observation was that all critically ill patients, irrespective of the presence of sepsis or lactic acidosis had elevated levels of IMA which is clearly indicative of the ubiquitous presence of oxidative stress. The Venn diagram is an elegant representation of the concurrent multiple pathophysiological processes which occur in critically ill patients.  相似文献   

20.
Short-chain acyl-CoA dehydrogenase (ACAD) deficiency is an extremely rare inherited mitochondrial disorder of fat metabolism. This belongs to a group of diseases known as fatty acid oxidation disorders. Screening programmes have provided evidence that all the fatty acid oxidation disorders combined are among the most common inborn errors of metabolism. Mitochondrial beta oxidation of fatty acids is an essential energy producing pathway. It is a particularly important pathway during prolonged periods of starvation and during periods of reduced caloric intake due to gastrointestinal illness or increased energy expenditure during febrile illness. The most common presentation is an acute episode of life threatening coma and hypoglycemia induced by a period of fasting due to defective hepatic ketogenesis. Here, the case of a 4 month old female patient who had seizures since the third day of her birth and persistent hypoglycemia is described. She was born to parents of second degree consanguinity after 10 years of infertility treatment. There was history of delayed cry after birth. Metabolic screening for TSH, galactosemia, 17-OHP, G6PD, cystic fibrosis, biotinidase were normal. Tandem mass spectrometric (TMS) screening for blood amino acids, organic acids, fatty acids showed elevated butyryl carnitine (C4) as 3.40 μmol/L (normal <2.00 μmol/L), hexanoyl carnitine (C6) as 0.92 μmol/L (normal <0.72 μmol/L), C4/C3 as 2.93 μmol/L (normal <1.18 μmol/L). The child was started immediately on carnitor syrup (carnitine) 1/2 ml twice daily. Limitation of fasting stress and dietary fat was advised. Baby responded well by gaining weight and seizures were controlled. Until now, less than 25 patients have been reported worldwide. The limited number of patients diagnosed until now is due to the rarity of the disorder resulting in under diagnosis.  相似文献   

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