Biochemical Marker For Diagnosis Research Articles

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures

Background Increased lactate is an important biochemical marker in diagnosis of children with suspicion of mitochondrial disorders. A diagnostic dilemma may originate if analyses are performed after seizures, when the increased lactate levels may be considered to result from the seizures. To address this problem, we ascertained the diagnostic value of lactate and alanine in blood (B) and cerebrospinal fluid (CSF) in children with mitochondrial disorders ( n = 24), epilepsy ( n = 32), psychomotor retardation ( n = 23), meningitis ( n = 12) and meningism ( n = 16). Methods Lactate concentration was measured using a spectrophotometric method. Amino acids in serum and CSF were analyzed by ion exchange chromatography with ninhydrin detection. Results Average blood and CSF-lactate levels were significantly higher in children with mitochondrial disorders (3.87 ± 0.48 and 4.43 ± 0.55 mmol/l) and meningitis (2.77 ± 0.45 and 8.58 ± 1.08 mmol/l) than in children with epilepsy (1.72 ± 0.13 and 1.62 ± 0.04 mmol/l), psychomotor retardation (1.79 ± 1.40 and 1.68 ± 0.06 mmol/l) or meningism (1.70 ± 0.13 and 1.64 ± 0.07 mmol/l). Blood and CSF-alanine levels were also higher in children with mitochondrial disorders (558 ± 44 and 51 ± 8 μmol/l) than in children with epilepsy (327 ± 23 and 27 ± 3 μmol/l) or psychomotor retardation (323 ± 27 and 26 ± 3 μmol/l). The CSF-lactate levels of children with epilepsy were similar whether the samples were obtained 3 ± 0.6 h after an attack of brief seizures or from children without history of recent seizures. Conclusion Elevated cerebrospinal fluid lactate level is a reliable marker pointing to mitochondrial origin of disease, even in children who have recently suffered short-lasting seizures. Some children with mitochondrial disorders manifest only mild or intermittent elevation of lactate levels.

Do metabolic alterations serve as biochemical markers in the diagnosis of malignant biliary obstruction? An observational study

The aim of this study was to investigate the changes in serum lipid profiles in biliary obstruction associated with benign and malignant conditions and to find whether they can be used as adjunctive biochemical tumor markers in the differential diagnosis. One hundred and twenty patients (60 malignant, 60 benign) who underwent endoscopic retrograde cholangiopancreatography with the clinical picture of intrahepatic and extrahepatic cholestasis were reviewed in the period from January to July 2008. In the malignant group, significantly higher cholesterol (P<0.001), low-density lipoprotein (P<0.001), and triglycerides (P<0.001) were observed, whereas high-density lipoprotein (P<0.001) levels were lower. The receiver operating characteristic analysis showed that high-density lipoprotein 19.5 mg/dl or less [sensitivity: 88.3%, specificity: 83.3%, area under the curve: 0.906 (0.851-0.961), P<0.001] and total to -high-density lipoprotein cholesterol ratio at least 17.7 [sensitivity: 80.0%, specificity: 93.1%, area under the curve: 0.921 (0.871-0.971)] were strong predictors of malignant biliary obstruction. Serum lipid profile may be used as an adjunctive marker to identify malignant causes of the obstructive jaundice.

S1940 Biochemical Markers for Diagnosis of Fibrosis and Predicting SVR in HCV Genotype 2/3 Treated for 12 or 24 Weeks

S1940 Biochemical Markers for Diagnosis of Fibrosis and Predicting SVR in HCV Genotype 2/3 Treated for 12 or 24 Weeks

The spectrum of carcinoid tumours and carcinoid syndromes.

Carcinoids are neuroendocrine tumours of the gut which may also be found in the bronchus, pancreatic islets and retroperitoneum. They probably arise from gastrointestinal or bronchopulmonary pluripotential stem cells. Carcinoid tumours derived from these cells are potentially malignant; the strength of the tendency for aggressive growth correlates with the site of origin, depth of local penetration and the size of the tumour. Carcinoids occur sporadically or result from specific hereditary tumour syndromes. Mutations and/or aberrant expression of specific genes induce and promote tumour growth. Clinical features include local symptoms due to angulation or obstruction and hepatomegaly due to liver metastases. The carcinoid syndrome commonly involves flushing, diarrhoea, bronchospasm and hypotension. Other distinct syndromes may be caused by tumour release of products that may also be used as biochemical markers in diagnosis and follow-up. Scanning using radiolabelled octreotide, an analogue of somatostatin, sensitively identifies occult primary and metastatic deposits. Localized carcinoid tumours should be resected. Some patients benefit from hepatic resection. Palliation of symptoms is best achieved with octreotide. Hepatic artery chemoembolization may produce long-acting palliation. Further genetic characterization of the different types and stages of carcinoid development as well as assessment of gene expression profiles may improve differential diagnosis, prognosis and treatment.

Central nervous system candidiasis in preterm infants: Limited value of biochemical markers for diagnosis

Two rare cases of isolated central nervous system (CNS) candidiasis in preterm infants have been diagnosed in a tertiary neonatal centre over the past 6 years. Despite the life-threatening nature of the disease, biochemical infection markers were not useful for the early identification of localized fungal infection. Because the infection was likely to have been blood borne, we postulated that the initial fungal load was probably low and that the organisms were rapidly eliminated from the circulation after a few had been deposited in the CNS. Hence, the absence of fungaemia or systemic involvement precluded the activation of cytokines and cellular markers. Clinicians should be aware of the limitation of biochemical infection markers so that diagnosis and treatment of fungal infection will not be delayed.

Total Synthesis of (+)-Deoxypyrrololine: A Potential Biochemical Marker for Diagnosis of Osteoporosis.

The collagen cross-link (+)-deoxypyrrololine (Dpl, 1), a potential biochemical marker for diagnosis of osteoporosis, has been obtained by a general and convergent total synthesis. The key synthetic features involve utilization of a L-glutamic acid derivative as a source for all three chiral centers in (+)-1, and construction of the pyrrole ring by condensation of an alpha-acetoxynitro compound with benzyl isocyanoacetate.

Creatine kinase as a biochemical marker in diagnosis of placenta increta and percreta

We describe 1 case of placenta increta and 1 of placenta percreta, both associated with elevated maternal serum creatine kinase concentration. In patients with placenta previa and ultrasonographic findings of an abnormally adherent placenta, an unexplained elevation in maternal serum creatine kinase level should alert the clinician to the possibility of placenta increta or placenta percreta, with an attendant increase in maternal morbidity. (Am J Obstet Gynecol 1999;180:1039-40.)

O.15 Post-absorptive plasma citrulline concentration is a biochemical marker for diagnosis and severity assessment of post surgical chronic intestinal failure in humans

O.15 Post-absorptive plasma citrulline concentration is a biochemical marker for diagnosis and severity assessment of post surgical chronic intestinal failure in humans

Multicenter evaluation of a second-generation assay for cardiac troponin T

We report on the evaluation of the second-generation assay for cardiac troponin T (cTnT) on the Enzymun system. This new assay is completely specific for the cardiac isoform of TnT, utilizing two cardiospecific monoclonal antibodies. The assay time is reduced to 45 min. The interassay precision shows a median CV of 5.5%; 20% interassay CV was found between 0.05 and 0.1 microg/L. The cardiosensitivity of the second-generation cTnT assay in patients with ischemic myocardial injury appears equivalent when compared with the first-generation assay. We found no falsely positive results in patients with skeletal muscle damage including multitraumas, surgery patients, and marathon runners who showed highly increased values with the unspecific first-generation assay. In Duchenne disease cTnT was still increased, but to a much lower extent. cTnT remains increased in renal failure, but to a lesser degree than with the first-generation assay. The cause of this increase remains unclear. Although a cross-reactivity of skeletal muscle TnT in the second-generation assay could be excluded by our findings, minor myocardial damage or expression of the cardiac isoform of TnT in regenerating muscles cannot be ruled out in those cases with apparently falsely increased cTnT values. The second-generation cTnT assay is a step forward in the combination of cardiosensitivity and cardiospecificity in biochemical markers for diagnosis of heart disease.

Peritoneal Fluid Lactate Dehydrogenase in Ovarian Cancer

In attempt to identify patients with ovarian carcinoma and differentiate them from patients with benign ovarian tumor or other gynecological malignancies, peritoneal fluid and serum lactate dehydrogenase (LDH) levels were measured in 51 patients: 15 with ovarian carcinoma, 15 with endometrial carcinoma, 4 with cervical carcinoma, and 17 with benign ovarian tumor. Peritoneal fluid and serum LDH levels in ovarian cancer patients were significantly higher than those in patients with benign ovarian tumor (P< 0.001) or other gynecological malignancies (P< 0.001 andP< 0.03, respectively). Yet, peritoneal fluid LDH demonstrated higher diagnostic sensitivity (87%) and greater diagnostic accuracy (90%) than serum LDH (60 and 77%, respectively) or serum CA-125 (73 and 83%, respectively). Comparing the histological types of ovarian cancer, serous cystadenocarcinoma presented higher peritoneal fluid LDH levels than endometrioid or mucinous cystadenocarcinoma. No difference in peritoneal fluid LDH was observed comparing different stages of ovarian cancer. The results suggest that peritoneal fluid LDH may be an efficient biochemical marker in diagnosis of ovarian cancer.

Clinical significance of serum total and heat-stable alkaline phosphatase in leukemia patients.

Variations in serum alkaline phosphatase (ALP) and placental-like (heat stable) alkaline phosphatase (PLAP) are found to be clinically useful in cancer patients. The present study evaluated serum ALP and PLAP levels to establish a blood-based biochemical index for leukemia patients. ALP and PLAP levels were determined in 145 untreated leukemia patients, 77 anemia patients, 150 healthy individuals (controls), 47 leukemic patients in remission and 23 patients with persistent leukemic activity/accelerated leukemic phase (P. Leu./A. Leu.). The enzymes were estimated with highly specific spectrophotometric methods. Serum ALP and PLAP levels were significantly elevated in anemia patients and leukemia patients compared to controls. Comparison between anemia patients and leukemia patients showed insignificant differences for ALP, whereas PLAP levels were significantly raised (p < 0.001) in leukemia patients. ALP showed insignificant difference between untreated leukemia patients, patients with P. Leu./A. Leu. and leukemia patients in remission. PLAP levels were comparable in patients with P. Leu./A. Leu. and were significantly lower (p < 0.02) in leukemia patients in remission than in untreated leukemia patients. The results indicate that serum PLAP levels are a useful biochemical marker for diagnosis and treatment monitoring of leukemia patients. However, serum ALP levels have limited utility for leukemia patients.

Purine metabolism in childhood acute lymphoblastic leukemia: Biochemical markers for diagnosis and chemotherapy

Adenosine deaminase(ADA), purine nucleoside phosphorylase (PNP), 5′ nucleotidase (5′NT), ecto-5′NT, hypoxanthine-guanine phosphoribosyltransferase(HGPRT), adenine phosphoribosyltransferase(APRT), adenosine kinase(AK), AMP deaminase (AMPD) and adenylate kinase(AdKin) activities were assayed in leukemic cells from bone marrow and/or peripheral blood of 43 newly diagnosed children with acute lymphoblastic leukemia(ALL). These enzyme activities have been investigated in relation to some immunological markers. ADA activity was higher in E-rosette positive leukemia(E + ALL), while HGPRT, APRT, PNP, 5′NT, ecto-5′NT and AdKin activities were found to be lower in E + ALL as compared to E − ALL. In common ALL (cALL) antigen positive leukemia, mean ADA activity was significantly lower as compared to cALL − leukemia, whereas PNP, 5′NT, ecto-5′NT and AdKin activities were significantly higher. cALL cells with cytoplasmic immunoglobulin M(IgM) heavy chains were found to have mean 5′NT activities twice as high as cALL cells lacking cytoplasmic IgM heavy chains. In two patients who had surface immunoglobulins on their cell membranes, low 5′NT activities were found. When measuring enzyme activities after 2–4 days of prednisone monotherapy, only mean ADA and HGPRT activities decreased in non-B, non-T ALL. These decreases were not significant in T-ALL patients. Mean enzyme activities in the leukemic cells of five patients with relapse were comparable to those in newly diagnosed patients, except for 5′NT, which was found to be within the activity range of control peripheral blood lymphocytes. It is concluded that ADA and AdKin activities are suitable as markers for E + ALL and cALL + leukemias respectively. 5′NT might help to distinguish between cALL cells having and lacking pre-B characteristics. Since 5′NT activity may also be decreased in B-ALL, it is not suitable as a T-ALL marker. Enzymes of purine metabolism in leukemic relapse need further investigation.

Serum cholinesterase activity in malnutrition and other childhood disorders.

Serum cholinesterase activity wes estimated in 50 cases of malnutrition, 10 of liver disease, five of nephrotic syudrome and 10 healthy controls. There was considerable decrease in cholinesterase activity in cases of malnutrition as compared to controls and other diseases. In five cases cholinesterase levels increased with clinical improvement. Our study shows that cholinesterase is a good biochemical marker for diagnosis and prognosis in cases of malnutrition.