SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.

PURPOSE OF REVIEW: This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms. SHORT syndrome results from dysfunction of PI3K, but the mechanisms behind the clinical manifestations are not entirely understood. Elucidating these mechanisms may contribute to the understanding of the roles of insulin signaling and PI3K signaling in humans. There are paucity of data on treatment and outcomes. RECENT FINDINGS: The clinical spectrum of the disorder appears wider than previously understood, and overlaps with other clinical syndromes. PI3K malfunction is associated with insulin resistance, decreased lipogenesis, increased energy expenditure, and possible IGF1 resistance. SHORT syndrome may be underdiagnosed, and should be considered in individuals with growth failure, craniofacial dysmorphism, and lipodystrophy. Much is still unknown about the optimal management and long-term outcomes.

The Effect of a Nutritional Supplement on Growth and Body Composition in Short and Lean Preadolescent Boys following One Year of Intervention.

INTRODUCTION: Adequate nutrition plays an important role in linear growth throughout childhood, including puberty. However, not all children are willing or able to consume an adequate and balanced diet daily. We aimed to evaluate the 1-year effectiveness and safety of nutritional supplementation on linear growth, weight gain, and changes in body composition in short and lean peripubertal boys. METHODS: A 1-year, 2-phase multicenter interventional study comprising 1-6 months of a double-blinded intervention with nutritional formula or placebo, followed by 6-12 months of an open-label extension with the nutritional formula for all participants. RESULTS: The outcomes of the double-blinded intervention were reported previously. A total of 79/98 (81%) boys, aged ≥10 years, Tanner stages 1-3, completed the open-labeled extension phase. For this phase, a significant dose-response correlation (p < 0.05) was found of the consumption of the formula with Δ height-SDS, Δ weight-SDS, and Δ muscle mass (crude correlations and after adjustment for baseline age and end-of-study Tanner stage). In the extension phase and in the 12-month analysis, participants who were good formula consumers (intake ≥50% of the recommended dose) maintained their height-SDS, while poor consumers had a significant decline in their height-SDS (p = 0.028 and p = 0.009, between group difference in the extension phase and 12-month analysis, respectively). Between-group differences were not observed in the Tanner stage at any point of the study. No serious adverse events were reported. CONCLUSIONS: An intervention in healthy peripubertal boys suggests that 1-year consumption of a multi-nutrient, protein-rich nutritional supplement is efficacious and safe. The induced changes in growth and body composition, although modest, may be clinically significant. The effect of the formula on growth parameters was not mediated by enhancement of the pubertal tempo.

Consensus Recommendations for the Use of Automated Insulin Delivery Technologies in Clinical Practice.

The significant and growing global prevalence of diabetes continues to challenge people with diabetes (PwD), healthcare providers, and payers. While maintaining near-normal glucose levels has been shown to prevent or delay the progression of the long-term complications of diabetes, a significant proportion of PwD are not attaining their glycemic goals. During the past 6 years, we have seen tremendous advances in automated insulin delivery (AID) technologies. Numerous randomized controlled trials and real-world studies have shown that the use of AID systems is safe and effective in helping PwD achieve their long-term glycemic goals while reducing hypoglycemia risk. Thus, AID systems have recently become an integral part of diabetes management. However, recommendations for using AID systems in clinical settings have been lacking. Such guided recommendations are critical for AID success and acceptance. All clinicians working with PwD need to become familiar with the available systems in order to eliminate disparities in diabetes quality of care. This report provides much-needed guidance for clinicians who are interested in utilizing AIDs and presents a comprehensive listing of the evidence payers should consider when determining eligibility criteria for AID insurance coverage.

Clinical Impact of ß-Lactamase-producing Enterobacteriaceae in Sputum of Cystic Fibrosis Patients.

This case series describes 18 cystic fibrosis (CF) patients of a 135-patient CF center cohort with extended spectrum ß-lactamase-producing Enterobacteriaceae, from 2003 to 2012. Four had chronic infection. Prevalence increased annually from 0 to 6.35%. Risk factors compared with the 2010 CF center cohort included continuous inhaled antibiotics (P = 0.014) and courses of intravenous antibiotics during the year before first isolation (P = 0.009). Hospitalization rates were 1.05/year and 0.47/year preinfection and postinfection, respectively (P = 0.02). Slope of forced expiratory volume at 1 second% predicted remained unchanged during 12 months.