Detection and reporting of RB1 promoter hypermethylation in diagnostic screening

Background: RB1 gene screening aids clinical management and genetic counselling in retinoblastoma families. Here we present epigenetic changes identified during routine molecular RB1 screening of tumor and blood samples. Complications in interpreting RB1 methylation are discussed.

Materials and Methods: Screening for RB1 promoter hypermethylation was carried out by Methylation Specific PCR (MS-PCR) after bisulphite modification of DNA. The cohort consisted of 315 tumors, and 204 blood samples, from 497 retinoblastoma patients (22 patients had both blood and tumor screened).

Results: 11.4% of retinoblastoma tumors had promoter hypermethylation. It was not routinely detected in blood samples, or in tumors with two other oncogenic RB1 changes. One blood sample had promoter hypermethylation due to an X;13 translocation. One tumor had low level methylation as well as two other oncogenic changes. Histopathological analysis of a small subset of age-matched tumors was similar regardless of promoter hypermethylation status.

Conclusions: Promoter hypermethylation was detected in 11.4% of the retinoblastoma tumors and should be tested for in routine RB1 screening programmes. Constitutional samples are not expected to display RB1 hypermethylation. In a small proportion of cases it may not be possible to use this somatic change in patient management.     

Early introduction of allergenic foods for the prevention of food allergy from an Asian perspective—An Asia Pacific Association of Pediatric Allergy,Respirology & Immunology (APAPARI) consensus statement

Emerging evidence for the early introduction of allergenic foods for the prevention of food allergies, such as peanut allergy in Western populations, has led to the recent publication of guidelines in the USA and Europe recommending early peanut introduction for high‐risk infants with severe eczema or egg allergy. Peanut allergy is, however, much less prevalent in Asia compared to the West. Varying patterns of food allergy are seen even within Asian countries—such as a predominance of wheat allergy in Japan and Thailand and shellfish allergy in Singapore and the Philippines. Customs and traditions, such as diet and infant feeding practices, also differ between Asian populations. Hence, there are unique challenges in adapting guidelines on early allergenic food introduction to the Asian setting. In this paper, we review the evidence and discuss the possible approaches to guide the timely introduction of allergenic food in high‐risk infants in Asia.     

Exploring Mental Health and Substance use Treatment Needs of Commercially Sexually Exploited Youth Participating in a Specialty Juvenile Court

The study sought to: (1) describe the mental health and substance use profiles among participants of a specialty trafficking court program (the Succeed Though Achievement and Resilience Court); (2) describe youths' mental health and substance use treatment prior to participating in the program; and (3) examine whether abuse influences report of mental health problems and/or substance use. Retrospective case review of court files was performed on commercially sexually exploited youth who volunteered to participate in the court from 2012 to 2014 (N = 184). All participants were female. Mental health problems and report of substance use was high among this population. Substance use differed at statistically significant levels between youth with a documented abuse history compared to those with no abuse history. Substance use also differed by report of mental health problems. Unexpected findings included the high rate of hospitalization for mental health problems and relatively low substance use treatment prior to STAR Court participation. Opportunities for improvement in critical points of contact to identify commercially sexually exploited youth and address their health needs are discussed.     

Associations Between Initial Subjective Experiences with Tobacco and Self-Reported Recent Use in Young Adulthood

Background: Youth tobacco use behaviors are predictive of patterns in adulthood and effect long-term health outcomes. Yet, few studies have examined the effect of initial subjective experiences (ISEs) during first tobacco use, which has been found to be an indicator of individuals. sensitivity to nicotine and vulnerability to dependence. Objective: The present study aimed to determine the prevalence of ISEs across a variety of tobacco products, evaluate the factor structure of ISEs by first tobacco product used, and examine the relationship between ISEs and recent (30-day) use of tobacco products across time, using a university sample. Methods: Exploratory factor analyses were conducted to identify latent factors present with respect to items measuring ISEs with tobacco, separately by tobacco product (e.g. cigarettes, cigars, hookah, e-cigarettes). Factor scores for positive and negative ISEs were calculated. Multiple logistic regression analyses were conducted to examine associations between ISEs and recent use of each tobacco product, adjusted for age at first use, sex, race/ethnicity, and cohort. Results: ISEs differ by the first tobacco product used. Associations between factor scores for positive and negative ISEs and recent use were found across a variety of tobacco products. Overall, positive ISEs were more strongly associated with recent use, relative to negative ISEs. Conclusions: Further research is needed to identify genetic and biological pathways and social contexts influencing initial subjective experiences with tobacco use, in efforts to delay the initiation for tobacco use and reduce risk for continued use among young adults.