A healthy patient with positive mantoux test but negative quantiferon Gold assay and no evidence of risk factors - to treat or not to treat?

A 56-year-old woman who vaccinated as a child with the Bacillus Calmette-Guerin (BCG), now tests positive to the tuberculin skin test (TST) but test negative to the Quantiferon Gold assay. She has no history of tuberculosis contact and is asymptomatic. This dilemma now is, should be treated for tuberculosis or not, based only on the TST results? To prevent these falsepositive results with TST and avoid treatment with isoniazid (INH) it may be helpful to use interferon-gamma release assay (IGRA) instead, which unlike the TB skin test is not affected by prior BCG vaccination.

Impact of CYP2D6 on venlafaxine metabolism in Trinidadian patients with major depressive disorder.

Aim: This study aimed to assess the impact of CYP2D6 and CYP2C19 variation on venlafaxine (VEN) at steady state in patients from Trinidad and Tobago of Indian and African descent with major depressive disorder.

Patients & Methods: Patients were phenotyped with dextromethorphan, genotyped for CYP2D6 and CYP2C19, and metabolic ratios for VEN obtained at 2-week intervals.

Results: Of 61 patients, 55 were genotyped and phenotyped and 47 completed 8 weeks of VEN treatment.

SNP genotyping using TaqMan technology: the CYP2D6*17 assay conundrum.

CYP2D6 contributes to the metabolism of many clinically used drugs and is increasingly tested to individualize drug therapy. The CYP2D6 gene is challenging to genotype due to the highly complex nature of its gene locus. TaqMan technology is widely used in the clinical and research settings for genotype analysis due to assay reliability, low cost, and the availability of commercially available assays.

Subjective response to alcohol and ADH polymorphisms in a select sample of young adult male East Indians and Africans in Trinidad and Tobago.

Objective: Level of response to alcohol has been associated with risk of alcohol dependence in a number of ethnic groups. In the present study, subjective and objective responses to alcohol were evaluated in Indo-Trinidadians (Indo-T) and Afro-Trinidadians (Afro-T). Associations of alcohol dehydrogenase polymorphisms with response to alcohol, using the Subjective High Assessment Scale (SHAS), and breath alcohol concentrations (BrAC) were tested.

Characterization of the CYP2D6 gene locus and metabolic activity in Indo- and Afro-Trinidadians: discovery of novel allelic variants.

Background: The highly polymorphic CYP2D6 gene has extensively been studied in many populations, but there is a void of knowledge regarding CYP2D6 pharmacogenetics and activity in populations with unique ancestries and admixture, such as those residing in Trinidad and Tobago.

Materials & Methods: 167 healthy Indo- and 103 Afro-Trinidadians were phenotyped with dextromethorphan and extensively genotyped. Gene resequencing was performed to resolve cases with genotype/phenotype discordance.

Identification of Novel CYP2D7-2D6 Hybrids: Non-Functional and Functional Variants.

Polymorphic expression of CYP2D6 contributes to the wide range of activity observed for this clinically important drug metabolizing enzyme. In this report we describe novel CYP2D7/2D6 hybrid genes encoding non-functional and functional CYP2D6 protein and a CYP2D7 variant that mimics a CYP2D7/2D6 hybrid gene. Five-kilobyte-long PCR products encompassing the novel genes were entirely sequenced.