The risk of misclassifying a patient might be dependent on the method used. The aim of this study was to investigate
the concordance between TPMT genotyping and phenotyping.
Methods: The data consist of 7195 unselected and consecutive TPMT genotype and phenotype determinations sent to the division of Clinical Pharmacology, Linkoping, Sweden. TPMT activity was measured in red blood cells (RBC) and the genotype determined by pyrosequencing for the three most common TPMT variants (TPMT *2, *3A, *3C).
Results: TPMT genotyping identified 89% as TPMT wild type (*1/*1), 10% as TPMT heterozygous and 0.5% as TMPT defective. The overall concordance 4EGI-1 between genotyping and phenotyping Volasertib was 95%, while it was 96% among IBD patients (n = 4024). Genotyping would have misclassified 8% of the TPMT defectives as heterozygous as compared to 11% if only TPMT activity had been measured. 11% of the heterozygous patients had a normal TPMT activity (>8.9 U/ml RBC) and 3%
of the TPMT wild-type patients had an intermediate TPMT activity (2.5-8.9 U/ml RBC).
Conclusions: There is a risk for TPMT misclassification when only genotyping or phenotyping is used, but it is not reasonable to check both in all patients. Since TPMT genotyping is the more reliable test, especially in TPMT heterozygotes, we suggest that genotyping should be considered the primary choice for the pre-treatment evaluation of TPMT function before initiation of thiopurine therapy. (C) 2011 European Crohn’s and Colitis Organisation. Published by Elsevier B.V. All rights reserved.”
“P>Diffuse hair loss is a common complaint and cause of significant emotional distress
particularly in women. The best way to alleviate the anxiety is to effectively treat the hair loss. It is paramount to address the symptom systematically. In addition to its psychological impact, hair Apoptosis Compound Library loss may be a manifestation of a more general medical problem. The diagnosis can be established with a detailed patient history focussing on chronology of events, examination of the scalp and pattern of hair loss, a pull test with examination of bulbs of shed hairs, trichoscopy, and few pertinent screening blood tests. In selected cases a scalp biopsy may be required. The most important differential diagnoses include acute and chronic telogen effluvium, female pattern hair loss, and diffuse alopecia areata. Occasionally, patients seeking advice are not necessarily losing hair. In the absence of convincing evidence of hair loss, they are suffering of psychogenic pseudoeffluvium, and thought should be given to an underlying psychological disorder. Once the diagnosis is established, treatment appropriate for that diagnosis is likely to control the hair loss.