Frequency of W4 and W6 antigens in perennial,nonallergic asthmatics

The frequency of W4 and W6 antigens was determined in 39 perennial, nonallergic asthmatics and 53 normal controls. The data indicated that the frequency of asthmatics homozygous for W4 or W6 was not different from the unrelated control population. Hence, our data dispute the hypothesis that intrinsic asthma is an autosomal-recessive disease associated with the W6 antigen.     

A simple method for keeping allergenic extracts at a temperature near 4 °C during in-office use for skin testing and immunotherapy

A method is needed for keeping ragweed pollen aqueous allergenic extracts at a temperature near 4 °C while they are in use for skin testing and immunotherapy in order to prevent deterioration in potency from warming. A polystyrene foam icebox is described which can be cooled with sacks of coolant which have been reduced to a temperature of ?17 °C in the freezing compartment of a standard refrigerator. Both icebox and coolant can be readily obtained from standard commerical sources and are inexpensive. When sufficient adequately cooled coolant is properly employed, this icebox will maintain the temperatures of allergenic extracts in the desirable range of 2 ° to 4 °C while they are in use for skin testing and immunotherapy.     

Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

Variants in ABCA4 are responsible for autosomal‐recessive Stargardt disease and cone‐rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the “missing” variants in these cases, we performed multiplex ligation‐dependent probe amplification‐based deletion scanning of ABCA4. In addition, we sequenced the promoter region, fragments containing five deep‐intronic splice variants, and 15 deep‐intronic regions containing weak splice sites. Heterozygous deletions spanning ABCA4 exon 5 or exons 20–22 were found in two probands, heterozygous deep‐intronic variants were identified in six probands, and a deep‐intronic variant was found together with an exon 20–22 deletion in one proband. Based on ophthalmologic findings and characteristics of the identified exonic variants present in trans, the deep‐intronic variants V1 and V4 were predicted to be relatively mild and severe, respectively. These findings are important for proper genetic counseling and for the development of variant‐specific therapies.     

Retinal vasculitis associated with HLA DR4. Brief definitive report

Inflammation of retinal blood vessels may be associated with a variety of systemic immune diseases. Despite the fact that a number of immunological abnormalities have been reported in patients with retinal vasculitis (RV), previous studies have failed to demonstrate an immunogenetic predisposition to this disease. HLA A, B, and DR locus typing of 25 patients (14 females) with well-characterized RV revealed an increased incidence of HLA DR4 (corrected p value = 0.04, relative risk = 3.5). The HLA DR4 antigen was increased in patients with both central and peripheral RV as well as in patients with idiopathic disease (14 patients) and in those with Behcet's syndrome (8 patients). The results of this study indicate that immune response genes may be involved in the pathogenesis of RV.     

Pharmacogenomics and Opioid Use Disorder: Clinical Decision Support in an African American Cohort

Opioid use disorder (OUD) constitutes a significant public health burden as opioid overdose deaths have continued to rise in the United States. Although treatment modalities are available to manage OUD, some patients experience challenges achieving their OUD management goals. Some of these challenges may be attributable to inherited genetic variations, or polymorphisms, on the genes that code for proteins impacting the pharmacokinetics or pharmacodynamics of medications used in OUD management. Clinical pharmacogenomics testing can elucidate these polymorphisms; however, a lack of real-world evidence for the use of pharmacogenomics in OUD management complicates the implementation process. We conducted a retrospective cohort study of 113 patients undergoing buprenorphine-based OUD management in Northeast Washington D.C. to determine if clinical pharmacogenomics testing for CYP3A4 and CYP3A5 would impact treatment outcomes. Data were collected from the electronic medical record (EMR) from December 30, 2015 to December 31, 2016. Study outcomes were based on presence of withdrawal symptoms, instances of unauthorized substances in urine drug tests (UDTs), and sublingual buprenorphine/naloxone (SBN) dose with standard-of-care (SOC) dosing versus pharmacogenomics (PGx)-based dosing. Pearson correlation tests, Wilcoxon signed rank tests, Wilcoxon rank sum tests, and one-way ANOVA tests were used. Linear and logistic regression analyses were used to assess predictors of withdrawal symptomatology. Kaplan-Meier survival analyses were used to assess time to first withdrawal. Our research suggests that patients with at least one copy of the CYP3A4*1B allele exhibit an accelerated rate of metabolism compared to the wild-type allele CYP3A4*1.