Citations

AbstractBackgroundChronic intestinal pseudo‐obstruction (CIPO) and enteric dysmotility (ED) are small intestinal motility disorders defined by radiological and manometric criteria. In the absence of consensus guidelines, we surveyed opinions on the diagnosis and management of CIPO and ED among experts from different countries.MethodsA survey questionnaire was circulated electronically to members of the European society for Clinical Nutrition and Metabolism, European Society of Neurogastroenterology and Motility, and United European Gastroenterology. Only responses from participants completing all required components were included.Key ResultsOf 154 participants, 93% agreed that CIPO and ED should be classified separately. Overall, 73% reported an increasing incidence of CIPO and ED, with hypermobile Ehlers‐Danlos Syndrome the group with the largest increase in referrals (37%), particularly in the UK (P < .0001). The majority (95%) find diagnosing CIPO and ED difficult. Notably, antroduodenal manometry, a test mandated to diagnose ED, is infrequently used (only 21% respondents use in >50% cases) and full thickness biopsies were reported to seldom influence medical treatment, nutritional management, and prognosis. Respondents reported that very few treatments are useful for most patients, with bacterial overgrowth treatment, prucalopride, and psychological therapies felt to be the most useful. While only 23% of clinicians felt that parenteral nutrition (PN) improves gastrointestinal symptoms in >50% of cases, 68% reported PN dependency at 5 years in the majority of cases.Conclusions and InferencesThese data highlight the difficulties with diagnosing and managing CIPO and ED and underscore the urgent need for international, multidisciplinary, clinical practice guidelines.

AbstractBackgroundWolff–Parkinson–White (WPW) syndrome is a relatively common arrhythmia affecting ~1–3/1,000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in individuals with a structurally normal heart remains poorly understood. Sudden death due to atrial fibrillation (AF) can also occur in these individuals. Several studies have indicated that despite ablation of an accessory pathway, the risk of AF remains high in patients compared to general population.MethodsWe applied exome sequencing in 305 subjects, including 65 trios, 80 singletons, and 6 multiple affected families. We used de novo analysis, candidate gene approach, and burden testing to explore the genetic contributions to WPW.ResultsA heterozygous deleterious variant in PRKAG2 was identified in one subject, accounting for 0.6% (1/151) of the genetic basis of WPW in this study. Another individual with WPW and left ventricular hypertrophy carried a known pathogenic variant in MYH7. We found rare de novo variants in genes associated with arrhythmia and cardiomyopathy (ANK2, NEBL, PITX2, and PRDM16) in this cohort. There was an increased burden of rare deleterious variants (MAF ≤ 0.005) with CADD score ≥ 25 in genes linked to AF in cases compared to controls (P = .0023).ConclusionsOur findings show an increased burden of rare deleterious variants in genes linked to AF in WPW syndrome, suggesting that genetic factors that determine the development of accessory pathways may be linked to an increased susceptibility of atrial muscle to AF in a subset of patients.

AbstractIRD organs are classified by the Public Health Service to be at above‐average risk for harboring human immunodeficiency virus, hepatitis C, and hepatitis B. Traditionally underutilized, there exists even greater reluctance for their use in pediatric patients. We performed a retrospective analysis via the United Network for Organ Sharing database of all pediatric renal and hepatic transplants performed from 2004 to 2008 in the United States. Primary outcomes were patient and graft survival. Proportional hazards regression was performed to control for potentially confounding factors. Waitlist time, organ acceptance rates, and infectious transmissions were analyzed. There were 1830 SRD renal, 92 IRD renal, 1695 SRD hepatic, and 59 IRD hepatic transplants. There were no statistically significant differences in allograft or patient survival in either group. Acceptance rates of IRD organs were lower for kidney (1.5% IRD vs 4.82% SRD) and liver (1.99% IRD vs 4.51% SRD). One transmission of a bloodborne pathogen involving a pediatric recipient out of 7797 unique transplants was reported from 2008 to 2015. IRD organs appear to have equivalent outcomes. Increasing their utilization may improve access to transplant while decreasing wait times and circumventing waitlist morbidity and mortality.

AbstractTwo prior studies suggest genetic counselors self‐disclose primarily because patients ask them to do so (Peters et al., 2004; Thomas et al., 2006). However, scant research has investigated effects of counselor disclosure on genetic counseling processes and outcomes. In this study, 151 students (98 undergraduates, 53 graduates) completed one of three surveys describing a hypothetical genetic counseling session in which a patient at risk for FAP was considering whether to pursue testing or surveillance procedures. Dialogue was identical in all surveys, except for a final response to the question: “What would you do if you were me?” The counselor either revealed what she would do (Personal Disclosure), what other patients have done (Professional Disclosure), or deflected the question (No Disclosure). Imagining themselves as the patient, participants wrote a response to the counselor and indicated their perceptions of her. Participants rated thenon‐disclosingcounselor significantly lower in social attractiveness than either disclosing counselor, and less satisfying than theprofessional disclosingcounselor. Analysis of written responses yielded four themes: Made Decision, Sought Information, Expressed Thoughts/Feelings, and No Decision. Practice implications and research recommendations are provided.