Heterozygous ACAN mutations result in a phenotypic spectrum ranging from mild and proportionate short stature to a mild skeletal dysplasia with disproportionate short stature and brachydactyly. Many affected individuals developed early-onset osteoarthritis and degenerative disc disease, suggesting dysfunction of the articular cartilage and intervertebral disc cartilage. Additional studies are needed to determine the optimal treatment strategy for these patients.

Background: We examined the reliability of trained dogs to alert to hypoglycemia in individuals with type 1 diabetes. Methods: Patients with type 1 diabetes who currently used diabetes alert dogs participated in this exploratory study. Subjects reported satisfaction, perceived dog glucose sensing ability and reasons for obtaining a trained dog. Reliability of dog alerts was assessed using capillary blood glucose (CBG) and blinded continuous glucose monitoring (CGM) as comparators in 8 subjects (age 4-48). Hypoglycemia was defined as CBG or CGM <70 mg/dL. Results: Dog users were very satisfied (8.9/10 on a Likert-type scale) and largely confident (7.9/10) in their dog’s ability to detect hypoglycemia. Detection of hypoglycemia was the primary reason for obtaining a trained dog. During hypoglycemia, spontaneous dog alerts occurred at a rate 3.2 (2.0-5.2, 95% CI) times higher than during euglycemia (70-179 mg/dL). Dogs provided timely alerts in 36% (sensitivity) of all hypoglycemia events (n = 45). Due to inappropriate alerts, the PPV of a dog alert for hypoglycemia was 12%. When there was concurrence of a hypoglycemic event between the dog alert and CGM (n = 30), CGM would have alerted prior to the dog in 73% of events (median 22-minute difference). Conclusions: This is the first study evaluating reliability of trained dogs to alert to hypoglycemia under real-life conditions. Trained dogs often alert a human companion to otherwise unknown hypoglycemia; however due to high false-positive rate, a dog alert alone is unlikely to be helpful in differentiating hypo-/hyper-/euglycemia. CGM often detects hypoglycemia before a trained dog by a clinically significant margin.

Youth with chronic illnesses have the greatest risk for a decline in their health management during transition-age. Because of this demonstrated and well-known issue, research has focused on how to improve the transition of care process. Despite the increasing number of technological devices on the market and the advances in telemedicine modalities available to patients with type 1 diabetes (T1D), the utilization of technology is still suboptimal among patients of transition-age (ages 13-25). This article reviews the available resources, patterns of use in transition-age youth, and explores opportunities to advance technology use in transitioning patients with T1D from pediatric to adult care.

Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; P<0.05). Elevated systolic BP was positively associated with obesity (56% versus 31%; P<0.05). Because the prevalence of obesity in the studied population was similar to Center for Disease Control published data for obesity in all girls and the prevalence of increased BP is approximately twice that of the general population, the Turner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population.

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Considerable evidence supports the role of oxidative stress in adult type 2 diabetes (T2D). Due to increasing rates of pediatric obesity, lack of physical activity, and consumption of excess food calories, it is projected that the number of children living with insulin resistance, prediabetes, and T2D will markedly increase with enormous worldwide economic costs. Understanding the factors contributing to oxidative stress and T2D risk may help develop optimal early intervention strategies. Evidence suggests that oxidative stress, triggered by excess dietary fat consumption, causes excess mitochondrial hydrogen peroxide emission in skeletal muscle, alters redox status, and promotes insulin resistance leading to T2D. The pathophysiological events arising from excess calorie-induced mitochondrial reactive oxygen species production are complex and not yet investigated in children. Systems medicine is an integrative approach leveraging conventional medical information and environmental factors with data obtained from “omics” technologies such as genomics, proteomics, and metabolomics. In adults with T2D, systems medicine shows promise in risk assessment and predicting drug response. Redoxomics is a branch of systems medicine focusing on “omics” data related to redox status. Systems medicine with a complementary emphasis on redoxomics can potentially optimize future healthcare strategies for adults and children with T2D.

The worldwide prevalence of type 2 diabetes (T2D) and prediabetes is rapidly increasing, particularly in children, adolescents, and young adults. Oxidative stress (OxS) has emerged as a likely initiating factor in T2D. Natural antioxidant products may act to slow or prevent T2D by multiple mechanisms, i.e., (1) reducing mitochondrial oxidative stress, (2) preventing the damaging effects of lipid peroxidation, and (3) acting as essential cofactors for antioxidant enzymes. Natural antioxidant products should also be evaluated in the context of the complex physiological processes that modulate T2D-OxS such as glycemic control, postprandial OxS, the polyol pathway, high-calorie, high-fat diets, exercise, and sleep. Minimizing processes that induce chronic damaging OxS and maximizing the intake of natural antioxidant products may provide a means of preventing or slowing T2D progression. This “optimal redox” (OptRedox) approach also provides a framework in which to discuss the potential benefits of natural antioxidant products such as vitamin E, vitamin C, beta-carotene, selenium, and manganese. Although there is a consensus that early effective intervention is critical for preventing or reversing T2D progression, most research has focused on adults. It is critical, therefore, that future research include pediatric populations.

At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by more frequent death investigations and autopsies. The presentation included an overview of autopsy methods, strategies for utilizing autopsy, and biobanking to address research questions about TS, and the role of palliative care in the context of autopsy. This review highlights strategies to promote autopsy and tissue donation, culminating with an action plan to increase autopsy rates in the TS community.