OBJECTIVEMonogenic diabetes is rare but is an important diagnosis in pediatric diabetes clinics. These patients are often not identified as this relies on the recognition of key clinical features by an alert clinician. Biomarkers (islet autoantibodies and C-peptide) can assist in the exclusion of patients with type 1 diabetes and allow systematic testing that does not rely on clinical recognition. Our study aimed to establish the prevalence of monogenic diabetes in U.K. pediatric clinics using a systematic approach of biomarker screening and targeted genetic testing. RESEARCH DESIGN AND METHODSWe studied 808 patients (79.5% of the eligible population) <20 years of age with diabetes who were attending six pediatric clinics in South West England and Tayside, Scotland. Endogenous insulin production was measured using the urinary C-peptide creatinine ratio (UCPCR). C-peptide-positive patients (UCPCR ‡0.2 nmol/mmol) underwent islet autoantibody (GAD and IA2) testing, with patients who were autoantibody negative undergoing genetic testing for all 29 identified causes of monogenic diabetes. RESULTSA total of 2.5% of patients (20 of 808 patients) (95% CI 1.6-3.9%) had monogenic diabetes (8 GCK, 5 HNF1A, 4 HNF4A, 1 HNF1B, 1 ABCC8, 1 INSR). The majority (17 of 20 patients) were managed without insulin treatment. A similar proportion of the population had type 2 diabetes (3.3%, 27 of 808 patients). CONCLUSIONSThis large systematic study confirms a prevalence of 2.5% of patients with monogenic diabetes who were <20 years of age in six U.K. clinics. This figure suggests that ∼50% of the estimated 875 U.K. pediatric patients with monogenic diabetes have still not received a genetic diagnosis. This biomarker screening pathway is a practical approach that can be used to identify pediatric patients who are most appropriate for genetic testing.

Carbohydrate restriction was an effective method of achieving short-term weight loss compared with standard advice, but this was at the expense of an increase in relative saturated fat intake.

OBJECTIVESmall studies using ultrasensitive C-peptide assays suggest endogenous insulin secretion is frequently detectable in patients with long-standing type 1 diabetes (T1D), but these studies do not use representative samples. We aimed to use the stimulated urine C-peptide-to-creatinine ratio (UCPCR) to assess C-peptide levels in a large cross-sectional, population-based study of patients with T1D. RESEARCH DESIGN AND METHODSWe recruited 924 patients from primary and secondary care in two U.K. centers who had a clinical diagnosis of T1D, were under 30 years of age when they received a diagnosis, and had a diabetes duration of >5 years. The median age at diagnosis was 11 years (interquartile range 6-17 years), and the duration of diabetes was 19 years (11-27 years). All provided a home postmeal UCPCR, which was measured using a Roche electrochemiluminescence assay. RESULTSEighty percent of patients (740 of 924 patients) had detectable endogenous C-peptide levels (UCPCR >0.001 nmol/mmol). Most patients (52%, 483 of 924 patients) had historically very low undetectable levels (UCPCR 0.0013-0.03 nmol/mmol); 8% of patients (70 of 924 patients) had a UCPCR ‡0.2 nmol/mmol, equivalent to serum levels associated with reduced complications and hypoglycemia. Absolute UCPCR levels fell with duration of disease. Age at diagnosis and duration of disease were independent predictors of C-peptide level in multivariate modeling. CONCLUSIONSThis population-based study shows that the majority of long-duration T1D patients have detectable urine C-peptide levels. While the majority of patients are insulin microsecretors, some maintain clinically relevant endogenous insulin secretion for many years after the diagnosis of diabetes. Understanding this may lead to a better understanding of pathogenesis in T1D and open new possibilities for treatment.Recent studies have challenged the traditional view of type 1 diabetes (T1D) leading to absolute insulin deficiency. Sensitive C-peptide assays have shown that 43-74% people with long-standing (.5 years) T1D are microsecretors of endogenous insulin (1,2) with C-peptide levels in a range not detected by previous assays (1-30 pmol/L).

Aims Most people with Type 1 diabetes have low levels of persistent endogenous insulin production. The Diabetes Control and Complications Trial showed that close to diagnosis preserved endogenous insulin was associated with lower HbA1c, hypoglycaemia and complication rates, when intensively treated. We aimed to assess the clinical impact of persistent C‐peptide on rate of hypoglycaemia and HbA1c in those with long duration (> 5 years) Type 1 diabetes. Methods We conducted a cross‐sectional case–control study of 221 people (median age 24 years) with Type 1 diabetes. We confirmed ongoing endogenous insulin secretion by measuring C‐peptide after a mixed‐meal tolerance test. We compared self‐reported hypoglycaemia (n = 160), HbA1c, insulin dose and microvascular complications (n = 140) in those with preserved and low C‐peptide. Results Stimulated median (IQR) C‐peptide was 114 (43, 273) pmol/l and < 3 (< 3, < 3) pmol/l in those with preserved and low C‐peptide respectively. Participants with preserved C‐peptide had lower reported monthly rates of hypoglycaemia, with 21% fewer symptomatic episodes, 5.9 vs. 7.5 [incidence rate ratio (IRR) 0.79, P = 0.001], and 65% fewer asymptomatic episodes, 1.0 vs. 2.9 (IRR 0.35, P < 0.001). Those with preserved C‐peptide had a lower insulin dose (0.68 vs. 0.81 units/kg, P = 0.01) but similar HbA1c (preserved 69 vs. low 67 mmol/mol, P = 0.06). Conclusions Adults with Type 1 diabetes and preserved endogenous insulin production receiving usual care in the UK have lower daily insulin doses and fewer self‐reported hypoglycaemic episodes, but no difference in HbA1c. This is consistent with non‐intensive treatment in previous studies, and suggests a need to consider therapy intensification to gain full benefit of preserved endogenous insulin.

UCPCR testing can be used in diabetes duration greater than 2 yr to identify pediatric patients with non-type 1 diabetes. UCPCR testing is a practical non-invasive method for use in the pediatric outpatient setting.

a b s t r a c tIt is widely accepted that health professionals might sometimes underestimate cancer patients' needs for information on the complex process of radiotherapy (RT) planning and delivery. Furthermore, relatives might also feel excluded from the treatment of their loved ones. This pilot study was carried out in order to assess whether both patients and their relatives would welcome further information on RT planning and delivery using the virtual reality (VR) system VERT. One hundred and fifty patients with different types of cancer receiving radical RT were included in the study. Patients and relatives were shown using VERT on a one-to-one basis with an oncologist or a radiographer, a standard room where RT is given, a linear accelerator, and how RT is planned and delivered using their own planning CT Scans. Patients welcomed this information as it helped them to reduce their fears about RT. Relatives felt also more involved in the treatment of their loved one. The results obtained in this pilot study show that VR aids could become an important tool for delivering information on RT to both patients and relatives.© 2015 The College of Radiographers. Published by Elsevier Ltd. All rights reserved. IntroductionThere is clear evidence suggesting there is often a gap between the information provided to patients regarding their disease and management, and the amount of information patients wish to receive.1 Furthermore, it is not uncommon for clinicians to underestimate cancer patients' needs for information, 2 especially when the vast majority of cancer patients want to be thoroughly informed about their illness. 3 Despite this, there are still problems with respect to the provision of information which could satisfy most patients. 4 The importance of the provision of information to patients has been stressed by the Department of Health 5 stating that is a key requirement in current cancer services standards in the UK. However, it cannot be assumed that all patients want substantial information regarding their treatment as some might prefer to fully trust their doctor rather than being involved in taking any decisions that could affect their management. While several studies have addressed these issues, 6,7 further work is still required to improve the understanding of patients' needs. Furthermore, relatives might feel sometimes disengaged in the management of their loved ones and might consider themselves being excluded from several areas within the management process. The negative psychological impact upon partners and other relatives of cancer patients is well documented, 8 and such negative effect is (amongst many other factors) widely associated with lack of medical information given to them. It has long been argued that providing tailored information to relatives as well as patients in general cancer care is a positive aspect of the treatment process 9 and there is little doubt that such inclusionary practice should be encouraged in cancer care.A clear example where provision of information to patien...

BackgroundTraditionally, some teenagers and young adults with diabetes have not engaged well at diabetes appointments, giving rise to concerns about long-term health risks. We considered that apps might help this group of patients to improve preparation for, and therefore engagement at their appointments. Although there are already many apps for young people with type 1 diabetes (YPD), we thought that by supporting YPD themselves to develop apps, the resulting products would have greater “authenticity” and relevance.ObjectiveTo test the feasibility of an online competition to (1) recruit and support YPD to develop apps (mobile or Internet based) to help prepare for clinic appointments, and (2) for these apps to be tested and rated by YPD.MethodsThe “Diabetes App Challenge” was a United Kingdom (UK) national competition, run between June and October 2012 for teams including at least one YPD (aged 16-25) to pilot the design and development of apps for use by other YPD prior to clinic appointments. The competition was advertised by social media, email, AdWords and postings on the Diabetes UK website. Registrants for the competition were supported via email and discussion forum. After app development, other YPD were invited (November 2012-February 2013) to trial the apps, choose and use one prior to a clinic appointment, and review their experiences.ResultsOf 56 people (including 28 YPD) who expressed interest in the competition, 6 teams (14 people) developed and submitted an app. Two apps aimed to facilitate agenda setting in clinic consultations, 2 enabled data logging and 2 helped insulin dose calculation. Of 135 YPD who registered to trial the apps, 83 (61.5%) took part (mean age 18.98, 37/83 male). Agenda setting apps were considered most useful for preparing for and setting the focus of clinic appointments (P=.02). Just over half (46/83, 55%) said they would use their chosen app again and 4/5 (67/83, 81%) would recommend it to a friend.ConclusionsThis competition to engage YPD in developing and reviewing apps proved successful. App designers and testers saw a need for a range of functions. However, this may, in part, reflect a lack of detailed knowledge of all existing apps and be limited by the technical skills of YPD. App competitions appear worth applying to other patient groups, but future competitions should include a review stage and perhaps focus on ideas for app design for subsequent professional implementation.

Aims/hypothesis Diabetes diagnosed at <6 months of age is usually monogenic. However, 10–15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. We characterised infants diagnosed at <6 months of age without a pathogenic variant to assess whether polygenic type 1 diabetes could arise at early ages. Methods We studied 166 infants diagnosed with type 1 diabetes at <6 months of age in whom pathogenic variants in all 26 known genes had been excluded and compared them with infants with monogenic neonatal diabetes (n = 164) or children with type 1 diabetes diagnosed at 6–24 months of age (n = 152). We assessed the type 1 diabetes genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features. Results We found an excess of infants with high T1D-GRS: 38% (63/166) had a T1D-GRS >95th centile of healthy individuals, whereas 5% (8/166) would be expected if all were monogenic (p < 0.0001). Individuals with a high T1D-GRS had a similar rate of autoantibody positivity to that seen in individuals with type 1 diabetes diagnosed at 6–24 months of age (41% vs 58%, p = 0.2), and had markedly reduced C-peptide levels (median <3 pmol/l within 1 year of diagnosis), reflecting rapid loss of insulin secretion. These individuals also had reduced birthweights (median z score −0.89), which were lowest in those diagnosed with type 1 diabetes at <3 months of age (median z score −1.98). Conclusions/interpretation We provide strong evidence that type 1 diabetes can present before the age of 6 months based on individuals with this extremely early-onset diabetes subtype having the classic features of childhood type 1 diabetes: high genetic risk, autoimmunity and rapid beta cell loss. The early-onset association with reduced birthweight raises the possibility that for some individuals there was reduced insulin secretion in utero. Comprehensive genetic testing for all neonatal diabetes genes remains essential for all individuals diagnosed with diabetes at <6 months of age.