Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia, Klippel-Trenaunay syndrome, CLAPO syndrome, fibroadipose hyperplasia or overgrowth, hemihyperplasia multiple lipomatosis, and megalencephaly capillary malformation-polymicrogyria (MCAP) syndrome. MCAP is a sporadic overgrowth disorder that exhibits core features of progressive megalencephaly, vascular malformations, distal limb malformations, cortical brain malformations, and connective tissue dysplasia. In 2012, our research group contributed to the identification of predominantly mosaic, gain-of-function variants in PIK3CA as an underlying genetic cause of the syndrome. Mosaic variants are technically more difficult to detect and require implementation of more sensitive sequencing technologies and less stringent variant calling algorithms. In this study, we demonstrated the utility of deep sequencing using the Illumina TruSight Oncology 500 (TSO500) sequencing panel in identifying variants with low allele fractions in a series of patients with PROS and suspected mosaicism: pathogenic, mosaic PIK3CA variants were identified in all 13 individuals, including 6 positive controls. This study highlights the importance of screening for low-level mosaic variants in PROS patients. The use of targeted panels with deep sequencing in clinical genetic testing laboratories would improve diagnostic yield and accuracy within this patient population.

Developing a food allergy curriculum for parents.

BACKGROUND: Food allergy (FA) is potentially severe and requires intensive education to master allergen avoidance and emergency care. There is evidence suggesting the need for a comprehensive curriculum for food allergic families. METHODS: This paper describes the results of focus groups conducted to guide the development of a curriculum for parents of food allergic children. The focus groups were conducted using standard methodology with experienced parents of food allergic children. RESULTS: Participants were parents (n = 36) with experience managing FA recruited from allergy clinics at two academic centers. Topics identified by parents as key for successful management included as expected: (i) early signs/symptoms, (ii) 'cross-contamination', (iii) label-reading, (iv) self-injectable epinephrine; and (v) becoming a teacher and advocate. Participants also recommended developing a 'one page-road map' to the information, and to provide the information early and be timed according to developmental stages/needs. Suggested first points for curriculum dissemination were emergency rooms, obstetrician and pediatrician offices. Participants also recommended targeting pediatricians, emergency physicians, school personnel, and the community-at-large in educational efforts. Parents often sought FA information from non-medical sources such as the Internet and support groups. These resources were also accessed to find ways to cope with stress. Paradoxically, difficulties gaining access to resources and uncertainty regarding reliability of the information added to the stress experience. DISCUSSION: Based on reports from experienced parents of food allergic children, newly diagnosed parents could benefit from a comprehensive FA management curriculum. Improving access to clear and concise educational materials would likely reduce stress/anxiety and improve quality of life.

Perceptions of factors influencing healthful food consumption behavior in the Lower Mississippi Delta: focus group findings.

OBJECTIVE: To identify perceptions of Lower Mississippi Delta (LMD) residents regarding factors that influence a change in healthful food consumption behavior to assist in planning sustainable nutrition interventions in the LMD. DESIGN: Nine focus groups were conducted with LMD residents in 9 counties in Arkansas, Louisiana, and Mississippi. One focus group was held in each county on the topical area of behavioral change. SETTING: Nine counties in Arkansas, Louisiana, and Mississippi. PARTICIPANTS: The study population included 91 persons, 85 females and 6 males (18-60+ years of age), of whom 71 were African Americans, 17 were Caucasians, and 3 were Hispanics, who participated in the focus group discussions. ANALYSIS: Data analyses were completed by general and specific content coding. Data were reviewed for emerging themes for each topic. The Social Cognitive Theory served as the framework for understanding the determinants of a change in healthful food consumption behavior. RESULTS: The study showed considerable variability in perceptions that are influenced by both personal and external factors. These factors include health concerns, family influence, and need for and availability of nutrition information. Participants were interested in learning about healthful eating, food preparation skills, and portion control. CONCLUSIONS: Focus groups in the LMD identified many important themes relevant to the development of nutrition interventions in these communities. These data will be used to guide the community-based participatory interventions that will be developed and implemented in the LMD. The findings could be applicable to other researchers designing interventions for similar populations.