ABSTRACT
Establishing a diagnosis of fulminant Wilson's disease can be difficult because Kayser-Fleischer rings may not be present and parameters of copper metabolism, including serum and urinary copper, and serum ceruloplasmin levels are neither specific nor diagnostic. In this study, ratios of both the serum alkaline phosphatase to total bilirubin and aspartate transaminase to alanine transaminase were constructed to evaluate their usefulness in differentiating fulminant hepatic failure caused by Wilson's disease (n = 6) from other etiologies (n = 43). An analysis of the data showed that cutoff values of less than 2.0 for the alkaline phosphatase-total bilirubin ratio and greater than 4.0 for the aspartate transaminase ratio were associated with a diagnosis of fulminant hepatic failure caused by Wilson's disease only (P less than 0.001). The alkaline phosphatase-total bilirubin ratio of less than 2.0 provided 100% sensitivity and specificity in identifying fulminant hepatic failure caused by Wilson's disease from other types of fulminant hepatic failure.
Subject(s)
Hepatic Encephalopathy/diagnosis , Hepatolenticular Degeneration/diagnosis , Liver Diseases/diagnosis , Adolescent , Adult , Alanine Transaminase/blood , Alkaline Phosphatase/blood , Analysis of Variance , Aspartate Aminotransferases/blood , Bilirubin/blood , Copper/blood , Diagnosis, Differential , Hepatic Encephalopathy/blood , Hepatolenticular Degeneration/blood , Humans , Liver Diseases/blood , Liver Diseases/etiologyABSTRACT
The polymerase chain reaction (PCR) allows the analysis of DNA from biologic samples containing only nanogram quantities of DNA. We used DNA purified from fresh or frozen peripheral blood (PB) leukocytes and formalin, or B-5 fixed bone marrow aspirate clots (BM). A sequence of the beta-globin gene was amplified via the PCR then hybridized with allele specific oligonucleotide probes for hemoglobin A, S, and C. All DNA preparations, including formalin and B-5 fixed BMs, were successfully amplified; the hybridization of the amplified products resulted in patterns consistent with the hemoglobin phenotype for all patients. PCR can be used on DNA from many sources; retrospective studies using paraffin embedded fixed tissue are possible because extremely small amounts of DNA present in fixed tissue can be successfully amplified.
Subject(s)
Polymerase Chain Reaction/methods , Adult , Aged , Aged, 80 and over , Base Sequence , DNA/genetics , DNA Probes , DNA, Single-Stranded/genetics , Female , Fixatives , Formaldehyde , Humans , Male , Middle Aged , Molecular Sequence Data , Nucleic Acid Hybridization , Specimen Handling/methodsABSTRACT
A typical urine pregnancy test with the enzyme-linked immunoassay for human chorionic gonadotropin (Tandem Icon human chorionic gonadotropin) was performed as was a qualitative serum radioimmunoassay for human chorionic gonadotropin when the positive cutoff for the latter was set at 30 IU/L. There was 99.5% concordance between the two methods when performed on 871 simultaneous urine and serum specimens. Although the serum radioimmunoassay can detect levels of human chorionic gonadotropin as low as 10 IU/L, in this study the majority of patients with serum levels between 10 and 30 IU/L were not pregnant on clinical follow-up. Of nine patients with adequate clinical follow-up, a negative urine pregnancy test result, and a serum human chorionic gonadotropin level between 10 and 30 IU/L, only one proved to be pregnant. The Tandem Icon human chorionic gonadotropin urine test is sufficient for routine pregnancy testing and to rule out the need for immediate intervention in cases of ectopic pregnancy.
