Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide

Abstract:  Neonatal diabetes mellitus is rare, may either be transient or permanent, and may be caused by mutations in any of the several different genes. Until recently, most forms of permanent neonatal diabetes required lifelong subcutaneous insulin for management; however, permanent neonatal diabetes due to activating mutations in the KCNJ11 gene, which encodes the Kir6.2 protein subunit of the ATP-sensitive K⁺ (K_ATP) channel, may be amenable to oral sulfonylurea therapy. We describe a case of an 18-month-old infant with permanent neonatal diabetes due to an activating KCNJ11 mutation successfully transitioned from subcutaneous insulin therapy to oral sulfonylurea therapy in the outpatient setting.     

Quality of Life in a Randomized Trial of Nasogastric Tube Feeding in Acute Pancreatitis

Background: Recent clinical studies have shown that nasogastric tube feeding is safe in the majority of patients with acute pancreatitis. Patient‐reported outcomes are important, but the impact of nasogastric tube feeding on the quality of life has not been investigated. This study aims to compare quality of life between nasogastric tube feeding and nil‐by‐mouth groups during and after hospitalization. Methods: Patient‐reported outcomes were recorded daily in a patient diary during hospitalization. The Abdominal Surgery Impact Scale questionnaire was used to determine patients' quality of life. The patients were then followed up at 1 week and 1, 3, and 6 months after discharge. Results: While 17 patients were randomized to nasogastric tube feeding, 18 were put on nil‐by‐mouth. The overall quality of life and individual domains did not differ significantly between the groups during hospitalization (P = .500) or follow‐up. For the entire cohort, individual quality‐of‐life domains during hospitalization improved significantly, including functional impairment (P < .001), pain (P < .001), sleep (P = .035), and psychological function (P < .001). Quality of life further improved for all patients from time of hospital discharge to 3 (P = .002) and 6 months follow‐up (P < .001) but not to 1 week and 1 month. Conclusions: The use of nasogastric tube feeding, in comparison with nil‐by‐mouth, does not impair patients' quality of life. Given the clinical benefits of nasogastric tube feeding, nasogastric feeding should be considered the first‐line approach in all acute pancreatitis patients requiring enteral nutrition.     

Lessons from extreme human obesity: monogenic disorders

Human obesity has a strong genetic component. Most genes that influence an individual's predisposition to gain weight are not yet known. However, the study of extreme human obesity caused by single gene defects has provided a glimpse into the long-term regulation of body weight. These monogenic obesity disorders have confirmed that the hypothalamic leptin-melanocortin system is critical for energy balance in humans, because disruption of these pathways causes the most severe obesity phenotypes. Approximately 20 different genes and at least three different mechanisms have been implicated in monogenic causes of obesity; however, they account for fewer than 5% of all severe obesity cases. This finding suggests that the genetic basis for human obesity is likely to be extremely heterogeneous, with contributions from numerous genes acting by various, yet undiscovered, molecular mechanisms.     

Adaptive step goals and rewards: a longitudinal growth model of daily steps for a smartphone-based walking intervention

Adaptive interventions are an emerging class of behavioral interventions that allow for individualized tailoring of intervention components over time to a person’s evolving needs. The purpose of this study was to evaluate an adaptive step goal + reward intervention, grounded in Social Cognitive Theory delivered via a smartphone application (Just Walk), using a mixed modeling approach. Participants (N = 20) were overweight (mean BMI = 33.8 ± 6.82 kg/m²), sedentary adults (90% female) interested in participating in a 14-week walking intervention. All participants received a Fitbit Zip that automatically synced with Just Walk to track daily steps. Step goals and expected points were delivered through the app every morning and were designed using a pseudo-random multisine algorithm that was a function of each participant’s median baseline steps. Self-report measures were also collected each morning and evening via daily surveys administered through the app. The linear mixed effects model showed that, on average, participants significantly increased their daily steps by 2650 (t = 8.25, p < 0.01) from baseline to intervention completion. A non-linear model with a quadratic time variable indicated an inflection point for increasing steps near the midpoint of the intervention and this effect was significant (t² = ?247, t = ?5.01, p < 0.001). An adaptive step goal + rewards intervention using a smartphone app appears to be a feasible approach for increasing walking behavior in overweight adults. App satisfaction was high and participants enjoyed receiving variable goals each day. Future mHealth studies should consider the use of adaptive step goals + rewards in conjunction with other intervention components for increasing physical activity.