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Ethylene glycol poisoning: toxicokinetic and analytical factors affecting laboratory diagnosis.

Ethylene glycol poisoning is an important toxicological problem in medical practice because early diagnosis and treatment can prevent considerable morbidity and mortality. When ingested in the form of antifreeze or other automotive products, ethylene glycol results in central nervous system depression, cardiopulmonary compromise, and renal insufficiency. Metabolism of ethylene glycol to organic acids is required for metabolic derangement and organ damage. Laboratory features of ethylene glycol poisoning include increased anion gap metabolic acidosis, increased osmolal gap, calcium oxalate crystalluria, and detectable ethylene glycol in serum. This Case Conference integrates discussion of the toxicokinetic and analytical variables that affect the laboratory diagnosis of ethylene glycol intoxication.

Acidosis↗

Prospective comparison of cell cultures and nucleic acid amplification tests for laboratory diagnosis of Chlamydia trachomatis Infections.

Specimens submitted in M5 medium for cell culture detection of Chlamydia trachomatis were tested by nucleic acid amplification testing (NAAT) and in cell cultures. Of 35 (genital) and 26 (nongenital) specimens positive for C. trachomatis, 21 and 14 specimens, respectively, were detected exclusively by NAAT. NAAT is significantly (P<0.0001) more sensitive than cell culture and should be considered the new "gold standard" for the laboratory diagnosis of C. trachomatis infections.

Bacteriological Techniques↗

Laboratory diagnosis of keratomycosis: comparative evaluation of direct microscopy and culture results.

In a prospective study, we evaluated the sensitivities of direct microscopy using potassium hydroxide 10% wet-mount preparations and culture for definitive diagnosis of keratomycosis in 171 clinically suspected fungal corneal ulcers. Although cultures were positive in 88 eyes (51.46%), the fungus could be demonstrated by KOH preparation in 94.3% (83 of 88) of the culture-proved cases and 93.6% (160 of 171) of the overall eyes. Direct microscopic examination of a KOH wet-mount preparation is a rapid, reliable, and superior technique of laboratory diagnosis. It is particularly important for the early initiation of antifungal treatment in mycotic keratitis.

Adolescent↗

[Stefin A--potential application in oncological laboratory diagnosis].

This is a review of studies on stefin A, an intracellular cysteine peptidase inhibitor of cystatin superfamily. Cystatins and target cysteine peptidases, such as cathepsins B and L have been implicated in malignant progression. The biochemical characteristics of human stefin A and its functions are presented. Special attention was paid to the potential usefulness of stefin A determination in serum and tissue cytosol (ELISA test) or tissue sections (immunohistochemistry) in the oncological laboratory diagnosis.

Cystatin A↗

[Laboratory diagnosis of congenital thrombophilia].

We examined the incidence of thrombophilia in deep vein thrombosis (DVT). Of 38 cases, we found 4 cases of protein C abnormality, 2 cases each of protein S abnormality and lupus anticoagulant, 1 case of antithrombin III abnormality. The total incidence was 23.7%, whereas only 2 cases (6.2%) of plasminogen abnormality were found among 32 healthy individuals. The incidence of thrombophilia was apparently higher among patients with DVT than that of healthy subjects, although the incidence of Japanese DVT was lower than that of Caucasian DVT, as previously reported. By SSCP analysis in one case of protein C abnormality, we demonstrated an abnormality of exon 9-3. To establish laboratory diagnosis of thrombophilia, it is recommended that (1) severe liver diseases, DIC, and oral anticoagulant be ruled out, (2) abnormality be confirmed by repeated examination, (3) family study determine inheritance mode, if possible. It was strongly suggested that laboratory examination of thrombophilia should be routinely applied to cases of venous thrombosis including DVT, not only for diagnostic interest but also for appropriate treatment of these cases.

Adult↗

Counter immunoelectrophoresis technique in laboratory diagnosis of bacterial meningitis.

Fifty cerebrospinal fluid specimens were studied by counter-immunoelectrophoresis (CIE), Gram's staining and culture techniques. Out of 33 test cases of pneumococcal, meningococcal and Haemophilus influenzae meningitides, 31 cases, were CIE positive, 24 were detected by Gram's staining while 27 were positive by culture. The 17 cases which served as controls did not give false positive results. The CIE is recommeded as an adjunct to bacterial culture in laboratory diagnosis of bacterial meningitis especially in areas where there is poor control of drug usage by people with resultant self antibiotic medication which makes definite bacterial meningitis specimens "sterile" on culture.

Bacteriological Techniques↗

Clinical and laboratory diagnosis of Salla disease in infancy and childhood.

Salla disease is an autosomal recessive lysosomal storage disorder; increased amounts of free sialic acid (N-acetylneuraminic acid) are found in urine and tissues. The disease causes severe psychomotor retardation, with onset by 1 year of age, but the patients have an apparently normal life-span. This paper describes the clinical features of Salla disease in six infants and young children and provides the background for laboratory diagnosis by thin-layer chromatography or spectrophotometric determination of sialic acid in urine.

Age Factors↗

Fatal rickettsial meningitis in Hong Kong: a need for rapid laboratory diagnosis.

A 22-year-old Chinese male, investigated elsewhere for fever and myalgia, was transferred to our hospital drowsy, unresponsive to commands and with a petechial rash. Partially treated meningococcal meningitis was suspected and high-dose antibiotics were immediately started. Rising Weil-Felix titres occurred too late for anti-rickettsial therapy to prevent a fatal outcome. Subsequent specific serology showed rising titres against Rickettsia conori. The desirability of more rapid and reliable methods of laboratory diagnosis of rickettsial infection is evident.

Adult↗

Laboratory diagnosis in andrology.

Evaluation of male fertility traditionally has relied on analysis of spermatozoa and seminal plasma. Technology has consisted almost exclusively of subjective motility assessment and morphology of stained sperm-cell preparations. Evaluation of seminal plasma components, particularly anti-sperm antibodies, was based on functional properties of sperm immobilization and agglutination. In the last few years, objective measurements of sperm motility have become available, and new methods for immunological evaluation have been applied to andrology laboratory evaluations. This review discusses methods of laboratory diagnosis of male infertility, including many of these new technologies.

Humans↗

[The use of immunoenzyme analysis in the laboratory diagnosis of plague].

The possibility of using the enzyme immunoassay (EIA) for the early diagnosis of pneumonic plague was studied in experiments on monkeys. EIA was shown to be more effective than the passive hemagglutination test. The diagnostic value of blood serum samples was found to be higher than that of nasopharyngeal mucus samples taken from the sick animals. The conclusion on the suitability of EIA for the early laboratory diagnosis of this disease was made.

Animals↗

Immunochemical identification and detection of a 36-kDa Toxoplasma gondii circulating antigen in sera of infected women for laboratory diagnosis of toxoplasmosis.

The detection of Toxoplasma gondii circulating antigens has been indicated to be a reliable diagnostic approach of active human toxoplasmosis. However, few reports have appeared in the literature regarding the diagnostic potential of T. gondii circulating antigens. Here, a specific antibody and western blot analyses were used to demonstrate the presence of a highly reactive antigen of 36-kDa, not only in the extract of T. gondii tachyzoites, but also in selected sera of women with confirmed laboratory and clinical signs of recent toxoplasmosis. The 36-kDa Toxoplasma antigen was purified from T. gondii tachyzoites and human serum using electroelution from preparative polyacrylamide gels. The purified polypeptides showed a single peak at 10.9 min when analyzed by capillary zone electrophoresis. Based on the above encouraging results, we have developed an ELISA format for the detection of target Toxoplasma antigen (TAg-ELISA) in human serum samples. The TAg-ELISA detected the target antigen in 88% sera of acutely infected women and showed high degree of specificity (91%) among sera from non-infected women. In conclusion, the detection of 36-kDa Toxoplasma circulating antigen in human sera appears to be a promising alternative approach for laboratory diagnosis of active T. gondii infection.

Adult↗

Laboratory diagnosis of Lyme borreliosis at the Portuguese National Institute of Health (1990-2004).

Lyme borreliosis is considered to be an emerging infection in some regions of the world, including Portugal. The first Portuguese human case of Lyme borreliosis was identified in 1989. Since 1999, this disease is considered a notifiable disease (DDO) in Portugal, but only a few cases are reported each year, which does not allow consistent analysis of risk factors and the impact on public health. In this study the authors analyse the data available at the Centre for Vectors and Infectious Diseases Research (CEVDI) laboratory, at the Instituto Nacional de Saude Dr. Ricardo Jorge (National Institute of Health, INSA) during the past 15 years (1990-2004) and evaluate them against the registry of national reported cases (1999-2004). Serological tests were the basis for laboratory diagnosis. Data on year of diagnosis, sex, age, geographical origin and clinical signs are available for 628 well documented Portuguese positive cases. The number of cases per year varied between 2 and 78, with the highest number of cases reported in 1997. Of the positive cases, 53.5% were female and the age group most affected was 35-44 years old. Neuroborreliosis was the most common clinical manifestation (37.3%). Human cases were detected in 17 of the 20 regions of Portugal, and the highest number of laboratory confirmed cases were from the Lisbon district. The comparison of the number of notified cases and the number of positive cases confirmed by our laboratory show that Lyme borreliosis is clearly an underreported disease. Due to the scattered distribution of the positive cases and the low prevalence of the tick species Ixodes ricinus, the most effective prevention measure for Lyme borreliosis in Portugal is education of the risk groups on how to prevent tick bites.

Adolescent↗

Pulmonary disease caused by Mycobacterium malmoense. Comments on the possible origin of infection and methods for laboratory diagnosis.

Mycobacterium malmoense was isolated from sputum and gastric lavage from a 68-year-old man with gastric adenocarcinoma. The patient meets the criteria for diagnosis of pulmonary mycobacteriosis. The cultural, physiological and biochemical properties of the isolates were compared with other slowly growing mycobacterial species. Fatty and mycolic acid analyses revealed the presence of 2-methyleicosanoic and 2,4,6-trimethyltetracosanoic acids and alpha-, alpha'-and ketomycolates, all regarded as typical for M. malmoense. The possible origin of M. malmoense infections and methods for laboratory diagnosis are discussed. This is the first case of documented infection due to this organism in Belgium.

Adenocarcinoma↗

[Laboratory diagnosis of the lupus anticoagulants].

The antiphospholipid syndrome is defined as the occurrence of one or more episodes of vascular thrombosis and/or miscarriage together with antiphospholipid antibodies. Some of these antibodies can be detected via coagulation assays by prolonging phospholipids-dependent assays. These unspecific inhibitors are termed lupus anticoagulant, due to their first description by Conley and Hartmann in patients with disseminated lupus erythematosus. Lupus anticoagulants are now defined as acquired autoantibodies directed against a phospholipid-binding protein such as beta2-glycoprotein I or prothrombin. Because of this binding, lupus anticoagulants form bivalent complexes which slow down coagulation reactions in vitro by forming stable complexes on coagulation active phospholipids. In vivo, these complexes may result in cellular activation and cause thrombosis. Laboratory diagnosis for the lupus anticoagulant should be performed by a combination of tests, including phospholipid-dependent clotting assays, plasma mixing studies, and demonstration of the phospholipid-dependency of the inhibitory activity.

Antiphospholipid Syndrome↗

[Coagulopathy with autoantibodies to blood-clotting factors: overview and laboratory diagnosis].

The acquired inhibitors of blood clotting-factors are immunoglobulins that directly inhibit clotting factors or accelerate their clearance from circulation. The majority of inhibitors are directed against factor VIII, which arises spontaneously in healthy elderly, postpartum women, patients with autoimmune disorders or malignancy, and those with various underlying disorders. The most common initial symptom is bleeding into the skin or muscles spontaneously or caused by minor trauma, which sometimes extends to cause severe anemia. Those with acquired hemophilia may not receive a first consultation by a hematologist, resulting in delayed laboratory diagnosis. The activated partial thromboplastin time (APTT) of the hemophilia patient's plasma is prolonged, and is not corrected by mixing with normal plasma for 2 hours. The mixing test provides suggestive evidence of a factor VIII inhibitor, but can not distinguish lupus anticoagulant. Although the factor VIII activity of plasma is remarkably low, the activities of other intrinsic clotting factors can also be reduced apparently in the one-stage assay. A quantitative inhibitor measurement assay is required to confirm that the inhibitor acts specifically on factor VIII.

Autoantibodies↗

Disorders of the hemostatic system and the risk of the development of thrombotic and cardiovascular diseases: limitations of laboratory diagnosis.

The relationship between hemostatic abnormalities and thrombotic and cardiovascular diseases is summarized. All known congenital and acquired abnormalities in the biochemistry of hemostasis are related to thrombotic and cardiovascular diseases in the way that would be expected on the basis of theories about the role of balances between coagulation and fibrinolysis and between activating and inhibiting factors. Notwithstanding the consistency between theory and observed abnormalities, a causal relationship between biochemical abnormality and clinical symptoms has been proved only in a limited number of situations, and it is possible that certain abnormalities only (or also) mark pathologic events. The limitations of laboratory diagnosis of hemostatic disorders in relation to hemostasis as a local process are discussed. It is proposed that more attention be paid to methods of evaluating the local aspects, for example, methods that assess reaction products in the circulation and that can provide an averaged message of the local phenomena. In addition, such methods can provide information about the dynamic balances in the hemostatic system, whereas historically more attention has been paid to the static balances in the potential of hemostatic processes.

Blood Coagulation↗