Family health history reporting is sensitive to small changes in wording.

PURPOSE: Family health history is often collected through single-item queries that ask patients whether their family members are affected by certain conditions. The specific wording of these queries may influence what individuals report. METHODS: Parents of Boston Children's Hospital patients were invited to participate in a Web-based survey about the return of individual genomic research results regarding their children. Participants reported whether 11 types of medical conditions affected them or their family. Randomization determined whether participants were specifically instructed to consider their extended family. RESULTS: Family health history was reported by 2,901 participants. Those asked to consider their extended family were more likely to report a positive family history for 8 of 11 medical conditions. The largest differences were observed for cancer (65.1 vs. 45.7%; P < 0.001), cardiovascular conditions (72.5 vs. 56.0%; P < 0.001), and endocrine/hormonal conditions (50.9 vs. 36.7%; P < 0.001). CONCLUSIONS: Small alterations to the way family health history queries are worded can substantially change patient responses. Clinicians and researchers need to be sensitive about patients' tendencies to omit extended family from health history reporting unless specifically asked to consider them.Genet Med 18 12, 1308-1311.

Acute vascular endothelial growth factor expression during hypertrophy is muscle phenotype specific and localizes as a striated pattern within fibres.

Skeletal muscle hypertrophy requires the co-ordinated expression of locally acting growth factors that promote myofibre growth and concurrent adaptive changes in the microvasculature. These studies tested the hypothesis that vascular endothelial growth factor (VEGF) and heparin-binding epidermal growth factor (HB-EGF) expression are upregulated during the early stages of compensatory muscle growth induced by chronic functional overload (FO). Bilateral FO of the plantaris and soleus muscles was induced for 3 or 7 days in the hindlimbs of adult female Sprague-Dawley rats (n = 5 per group) and compared with control (non-FO) rats. Relative muscle mass (in mg (kg body weight)(-1)) increased by 18 and 24% after 3 days and by 20 and 33% after 7 days in the plantaris and soleus muscles, respectively. No differences in HB-EGF mRNA or protein were observed in either muscle of FO rats relative to control muscles. The VEGF mRNA was similar in the soleus muscles of FO and control rats, whereas a significant elevation occurred at 3 and 7 days of FO in the plantaris muscle. However, VEGF protein expression after 3 days of FO exhibited a differential response; expression in the soleus muscle decreased 1.6-fold, whereas that in the plantaris muscle increased 1.8-fold compared with the control muscle. After 7 days of FO, VEGF protein remained elevated within the plantaris muscle, but returned to basal levels in the soleus. Robust basal HB-EGF and VEGF protein expression was consistently seen in control muscles. In all groups, immunohistochemistry for VEGF protein displayed a distinct striated expression pattern within myofibres, with considerably less labelling in extracellular spaces. Constitutive expression of HB-EGF and VEGF in control myofibres is consistent with housekeeping roles for these growth factors in skeletal muscle tissue. However, the specific patterns of VEGF expression in these muscles during FO may reflect the chronic changes in neural recruitment between muscles and the co-ordination of angiogenic and/or other hypertrophic responses.

Preterm Parturient with Polyhydramnios and Pancreatitis: Primary Presentation of Hyperparathyroidism.

OBJECTIVE: To report a case of severe hypercalcemia secondary to primary hyperparathyroidism in a late-preterm pregnant patient and review medical and surgical treatments as well as obstetric and neonatal outcomes. BACKGROUND: Diagnosis of parathyroid disease during pregnancy can be difficult due to nonspecific presentation. Management decisions are complex and require multidisciplinary collaboration. CASE: A 29-year-old G2P1001 woman at 35 weeks and 3 days' gestation presented with preterm contractions, polyhydramnios, pancreatitis, and severe hypercalcemia. Work-up revealed primary hyperparathyroidism with multiple thyroid nodules. Patient history, presentation, and biopsy were suspicious for parathyroid carcinoma. Despite severe hypercalcemia, both patient and fetus remained stable and medical management was pursued in an attempt to optimize mother and fetus prior to delivery. Due to recalcitrant hypercalcemia, surgical resection was ultimately required. She was subsequently delivered in the setting of preterm labor. Final pathology revealed parathyroid adenoma with atypia and occult papillary thyroid carcinoma. CONCLUSION: Symptoms of hypercalcemia can mimic those of a normal third trimester pregnancy and can have serious maternal and fetal effects if left untreated. A coordinated, multidisciplinary approach to these patients is necessary.

Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.

Discussions about disclosing individual genetic research results include calls to consider participants' preferences. In this study, parents of Boston Children's Hospital patients set preferences for disclosure based on disease preventability and severity, and could exclude mental health, developmental, childhood degenerative, and adult-onset disorders. Participants reviewed hypothetical reports and reset preferences, if desired. Among 661 participants who initially wanted all results (64%), 1% reset preferences. Among 336 participants who initially excluded at least one category (36%), 38% reset preferences. Participants who reset preferences added 0.9 categories, on average; and their mean satisfaction on 0 to 10 scales increased from 4.7 to 7.2 ( p < .001). Only 2% reduced the number of categories they wanted disclosed. Findings demonstrate the benefits of providing examples of preference options and the tendency of participants to want results disclosed. Findings also suggest that preference-setting models that do not provide specific examples of results could underestimate participants' desires for information.

The development of a preference-setting model for the return of individual genomic research results.

Understanding participants' preferences for the return of individual research results (IRR) in genomic research may allow for the implementation of more beneficial result disclosure methods. We tested four preference-setting models through cognitive interviews of parents to explore how parents conceptualize the process of setting preferences and which disease characteristics they believe to be most important when deciding what results to receive on their child. Severity and preventability of a condition were highly influential in decision making and certain groups of research results were anticipated by participants to have negative psychological effects. These findings informed the development of an educational tool and preference-setting model that can be scaled for use in the return of IRR from large biobank studies.

Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research.

The perceived benefit of return of individual research results (IRRs) in accordance to participants' preferences in genomic biobank research is unclear. We developed an online preference-setting tool for return of IRRs based on the preventability and severity of a condition, which included an opt-out option for IRRs for mental illness, developmental disorders, childhood-onset degenerative conditions, and adult-onset conditions. Parents of patients <18 years of age at Boston Children's Hospital were randomized to the hypothetical scenario that their child was enrolled in one of four biobanks with different policies for IRRs to receive (a) "None," (b) "All," (c) "Binary"--choice to receive all or none, and (d) "Granular"--use the preference-setting tool to choose categories of IRRs. Parents were given a hypothetical IRRs report for their child. The survey was sent to 11,391 parents and completed by 2,718. The Granular group was the most satisfied with the process, biobank, and hypothetical IRRs received. The None group was least satisfied and least likely to agree that the biobank was beneficial (p < .001). The response to the statement that the biobank was harmful was not different between groups. Our data suggest that the ability to designate preferences leads to greater satisfaction and may increase biobank participation.