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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