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At least 1,117 records · Page 62Linked to original sources
PubMed2001

Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology.

Type 2N von Willebrand disease encompasses all patients with factor VIII deficiency caused by a markedly decreased affinity of von Willebrand factor for factor VIII. It is recessively inherited and clinically similar to mild haemophilia. The differential biological diagnosis is of major importance for providing the optimal treatment and relevant genetic counselling. This accurate diagnosis is based on an evaluation of the factor VIII-binding capacity of plasma von Willebrand factor. Furthermore, molecular biology techniques allow the identification of missense mutations in the von Willebrand factor gene. All of these induce the substitution of amino acid residues located in the N terminal part of the mature von Willebrand factor molecule, which contains the factor VIII binding site. Most of them induce a classical type 2N von Willebrand disease phenotype with factor VIII deficiency but a normal level and multimeric pattern of von Willebrand factor.

Clinical Laboratory Techniques↗
PubMed2001

[Laboratory diagnosis of ethyl alcohol dependence syndrome].

The authors presented the aspects of diagnostics of alcohol dependence paying special attention to its laboratory and biochemical side. Biological sensitive and specific markers of alcohol dependence and abuse: N-acetyl-beta-hexosoaminidase, carbohydrate deficient transferrin and protein-acetaldehyde adducts were also presented.

Acetaldehyde↗
PubMed1989

The laboratory diagnosis of lupus anticoagulants.

With the well-documented association of lupus anticoagulants with thrombotic disease and recurrent spontaneous abortion, the laboratory approach to diagnosing these inhibitors is more critical now. To this end, we examined plasma samples from 21 patients who initially presented with a prolonged prothrombin time or activated partial thromboplastin time or both for the presence of lupus anticoagulants. We used a battery of coagulation tests, including both immediate and two-hour mixing studies, a platelet neutralization procedure, a tissue thromboplastin inhibition test, and dilute Russell viper venom times. Two patients (10%) had only a prolonged prothrombin time, seven (33%) had only a prolonged activated partial thromboplastin time, and in 12 (57%) both were abnormal. In 15 patients, inhibition was evident on immediate assay of equal-volume mixture studies of patient plasma and normal pooled plasma, but in three additional patients it was evident only after a two-hour incubation. Fifteen of 18 samples showed correction of the abnormal screening study when platelets were used as a source of phospholipid. Both the tissue thromboplastin inhibition test and dilute Russell viper venom times were sensitive assays, being abnormal in 20 of 21 and 13 of 14 samples, respectively. In four patients, discordance of studies necessitated specific coagulation factor levels being measured to confirm the presence of the inhibitor. Because of the variable effect of the inhibitors on all currently available assay procedures, we would suggest that any evaluation will require a laboratory to have a battery of tests available before such an inhibitor can be excluded.

Adolescent↗