The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). This mutation led to impaired interaction between p85α and IRS-1 and reduced AKT-mediated insulin signaling in fibroblasts from affected subjects and in reconstituted Pik3r1-knockout preadipocytes. Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling.

A substantial increase in mean BMI and the prevalence of obesity occurred in the younger age-groups at the same time as an increase in the prevalence of diabetes. A greater increase in diabetes prevalence in this ethnically stable Western European population may follow if effective primary preventive strategies are not undertaken.

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

ObjectiveTo assess the status of type 2 diabetes care in general practice and changes in the quality of care between 2005 and 2014, and to identify areas of diabetes care requiring improvement.Research design and methodsTwo cross-sectional surveys were performed that included patients with type 2 diabetes in selected areas (n=9464 in 2014, n=5463 in 2005). Quality of care was assessed based on key recommendations in national guidelines. Differences in clinical performance between 2005 and 2014 were assessed in regression models adjusting for age, sex, counties and clustering within general practices.ResultsTreatment targets were achieved in a higher proportion of patients in 2014 compared with 2005: hemoglobin A1c ≤7.0% (≤53 mmol/mol) in 62.8% vs 54.3%, blood pressure ≤135/80 mm Hg in 44.9% vs 36.6%, and total cholesterol ≤4.5 mmol/L in 49.9% vs 33.5% (all adjusted P≤0.001). Regarding screening procedures for microvascular complications, fewer patients had recorded an eye examination (61.0% vs 71.5%, adjusted P<0.001), whereas more patients underwent monofilament test (25.9% vs 18.7%, adjusted P<0.001). Testing for albuminuria remained low (30.3%) in 2014. A still high percentage were current smokers (22.7%).ConclusionsWe found moderate improvements in risk factor control for patients with type 2 diabetes in general practice during the last decade, which are similar to improvements reported in other countries. We report major gaps in the performance of recommended screening procedures to detect microvascular complications. The proportion of daily smokers remains high. We suggest incentives to promote further improvements in diabetes care in Norway.

BackgroundThe prevalence of diabetes and the use of electronic health (eHealth) are increasing. People with diabetes need frequent monitoring and follow-up of health parameters, and eHealth services can be of great value. However, little is known about the association between the use of eHealth and provider-based health care services among people with diabetes.ObjectiveThe objective of this study was to investigate the use of 4 different eHealth platforms (apps, search engines, video services, and social media sites) and associations with the use of provider-based health care visits among people diagnosed with type 1 diabetes mellitus (T1DM).MethodsWe used email survey data collected from 1250 members of the Norwegian Diabetes Association (aged 18 to 89 years) in 2018. Eligible for analyses were the 523 respondents with T1DM. Using descriptive statistics, we estimated the use of eHealth and the use of general practitioners (GPs) and somatic specialist outpatient services. By logistic regressions, we studied the associations between the use of these provider-based health services and the use of eHealth, adjusted for gender, age, education, and self-rated health.ResultsOf the sample of 523 people with T1DM, 90.7% (441/486) had visited a GP once or more, and 61.0% (289/474) had visited specialist services during the previous year. Internet search engines (such as Google) were used for health purposes sometimes or often by 84.0% (431/513), apps by 55.4% (285/514), social media (such as Facebook) by 45.2% (232/513), and video services (such as YouTube) by 23.3% (118/506). Participants aged from 18 to 39 years used all forms of eHealth more than people aged 40 years and older, with the exception of social media. The use of search engines was positively associated with the use of somatic specialist services (odds ratio 2.43, 95% CI 1.33-4.45). GP visits were not associated with any kind of eHealth use.ConclusionseHealth services are now widely used for health support and health information by people with T1DM, primarily in the form of search engines but often in the form of apps and social media as well. We found a positive association between the use of search engines and specialist visits and that people with T1DM are frequent users of eHealth, GPs, and specialist services. We found no evidence that eHealth reduces the use of provider-based health care; these services seem to be additional rather than alternative. Future research should focus on how health care services can meet and adapt to the high prevalence of eHealth use. Our results also indicate that many patients with T1DM do not visit specialist clinics once a year as recommended. This raises questions about collaboration in health care services and needs to be followed up in future research.