Background Functional luminal imaging probe (FLIP) Panometry assesses the esophageal response to distention and may complement the assessment of primary peristalsis on high‐resolution manometry (HRM). We aimed to investigate whether FLIP Panometry provides complementary information in patients with normal esophageal motility on HRM. Methods Adult patients that completed FLIP and had an HRM classification of normal motility were retrospectively identified for inclusion. 16‐cm FLIP studies performed during endoscopy were evaluated to assess EGJ distensibility, secondary peristalsis, and identify an abnormal response to distention involving sustained LES contraction (sLESC). Clinical characteristics and esophagram were assessed when available. Key Results Of 164 patients included (mean(SD) age 48(16) years, 75% female), 111 (68%) had normal Panometry with EGJ‐distensibility index (DI) ≥2.0 mm2/mmHg, maximum EGJ diameter ≥16mm and antegrade contractions. Abnormal EGJ distensibility was observed in 44/164 (27%), and 38/164 (23%) had an abnormal contractile response to distension. sLESC was observed in 11/164 (7%). Among 68 patients that completed esophagram, abnormal EGJ distensibility was more frequently observed with an abnormal esophagram than normal EGJ opening: 14/23 (61%) vs 10/45 (22%); P=0.003. Epiphrenic diverticula were present in 3/164 patients: 2/3 had sLESC. Conclusions & Inferences Symptomatic patients with normal esophageal motility on HRM predominantly have normal FLIP Panometry; however, abnormal FLIP findings can be observed. While abnormal Panometry findings appear clinically relevant via an association with abnormal bolus retention, complementary tests, such as provocative maneuvers with HRM and timed barium esophagram, are useful to determine clinical context.

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SUMMARY Brain-derived neurotrophic factor (BDNF) plays a key role in energy balance. In population studies, single nucleotide polymorphisms (SNPs) of the BDNF locus have been linked with obesity, but the mechanism by which these variants cause weight gain is unknown. Here, we examined human hypothalamic BDNF expression in association with 44 BDNF SNPs. We discovered that the minor C allele of rs12291063 is associated with lower human ventromedial hypothalamic BDNF expression (p<0.001) and greater adiposity in both adult and pediatric cohorts (p’s<0.05). We further demonstrated that the major T allele for rs12291063 possesses a binding capacity for the transcriptional regulator, heterogeneous nuclear ribonucleoprotein D0B, knockdown of which disrupts transactivation by the T allele. Binding and transactivation functions are both disrupted by substituting C for T. These findings provide a rationale for BDNF augmentation as a targeted treatment for obesity in individuals who have the rs12291063 CC genotype.

Summary Background The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) has not been established. We therefore compared hyperphagic symptoms in patients with BBS versus controls. Methods We studied 13 patients with BBS and 23 nonsyndromic controls with similar age, sex, and BMI z-score. A 13-item hyperphagia questionnaire was completed by patients’ parents/guardians. Results Total hyperphagia questionnaire score was higher in BBS than controls (27.6±9.0 vs. 19.1±7.9, p=0.005). Behavior and drive sub-scales were higher for BBS than controls (12.5±4.1 vs. 7.8±3.2, p=0.001, and 11.2±4.1 vs. 8.3±3.8, p=0.04, respectively); severity was not significantly different between groups (3.8±1.5 vs. 3.0±1.3, p=0.072). After adjustment for demographic variables and BMI-Z score, total and behavior subscale scores remained significantly different between groups, suggesting food-seeking activity, rather than preoccupation with food may be the main hyperphagic feature among patients with BBS. Conclusion Appetite dysregulation may contribute to obesity in BBS.