ObjectiveTo explore how to enhance services to support the self-care of children and young people (CYP) clinically considered ‘disengaged’ by diabetes services.DesignQualitative study.SettingTwo ...diabetes clinics in an ethnically diverse and socially disadvantaged urban area in the UK. Eligible participants were CYP living with type 1 or type 2 diabetes aged between 10 and 25 years who did not attend their last annual hospital appointment.Participants22 CYP (14 female and 8 male) aged between 10 and 19 years old took part. The sample was diverse in terms of ethnicity, age at diagnosis, family composition and presence of diabetes among other family members.Data collectionSemistructured interviews.Data analysisData were analysed thematically.ResultsAnalysis of participant accounts confirmed the crucial importance of non-medicalised care in CYP diabetes care. A life plan was considered as important to participants as a health plan. Participants valued the holistic support provided by friends, family members and school teachers. However, they found structural barriers in their health and educational pathways as well as disparities in the quality of support at critical moments along the life course. They actively tried to maximise their well-being by balancing life priorities against diabetes priorities. Combined, these features could undermine participants engagement with health services where personal strategies were often held back or edited out of clinical appointments in fear of condemnation.ConclusionWe demonstrate why diabetes health teams need to appreciate the conflicting pressures experienced by CYP and to coproduce more nuanced health plans for addressing their concerns regarding identity and risk taking behaviours in the context of their life-worlds. Exploring these issues and identifying ways to better support CYP to address them more proactively should reduce disengagement and set realistic health outcomes that make best use of medical resources.
KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with ...excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients.
In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817.
90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3–10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA1c and sulfonylurea at all time points (ie, pre-transfer for HbA1c, year 1, and most recent follow-up; n=64)—median HbA1c was 8·1% (IQR 7·2–9·2; 65·0 mmol/mol 55·2–77·1) before transfer to sulfonylureas, 5·9% (5·4–6·5; 41·0 mmol/mol 35·5–47·5; p<0·0001 vs pre-transfer) at 1 year, and 6·4% (5·9–7·3; 46·4 mmol/mol 41·0–56·3; p<0·0001 vs year 1) at most recent follow-up (median 10·3 years IQR 9·2–10·9). In the same patients, median sulfonylurea dose at 1 year was 0·30 mg/kg per day (0·14–0·53) and at most recent follow-up visit was 0·23 mg/kg per day (0·12–0·41; p=0·03). No reports of severe hypoglycaemia were recorded in 809 patient-years of follow-up for the whole cohort (n=81). 11 (14%) patients reported mild, transient side-effects, but did not need to stop sulfonylurea therapy. Seven (9%) patients had microvascular complications; these patients had been taking insulin longer than those without complications (median age at transfer to sulfonylureas 20·5 years IQR 10·5–24·0 vs 4·1 years 1·3–10·2; p=0·0005). Initial improvement was noted following transfer to sulfonylureas in 18 (47%) of 38 patients with CNS features. After long-term therapy with sulfonylureas, CNS features were seen in 52 (64%) of 81 patients.
High-dose sulfonylurea therapy is an appropriate treatment for patients with KCNJ11 permanent neonatal diabetes from diagnosis. This therapy is safe and highly effective, maintaining excellent glycaemic control for at least 10 years.
Wellcome Trust, Diabetes UK, Royal Society, European Research Council, Norwegian Research Council, Kristian Gerhard Jebsen Foundation, Western Norway Regional Health Authority, Southern and Eastern Norway Regional Health Authority, Italian Ministry of Health, Aide aux Jeunes Diabetiques, Societe Francophone du Diabete, Ipsen, Slovak Research and Development Agency, and Research and Development Operational Programme funded by the European Regional Development Fund.
Testicular tumours are very rare in children. Germ cell tumours (GCTs) account for the majority of testicular tumours in young people, and embryonal carcinomas are a common component of GCTs in ...adolescents.
A 9.8-year-old boy presented with the development of pubic and facial hair over a period of 2 years. He had a growth spurt and examination revealed pubertal staging of G4 P4 A2 with a 6-mls testis on the right and a 4-mls testis on the left. Investigations revealed suppressed gonadotrophins, a testosterone concentration of 10.3 nmol/l and normal 17-hydroxyprogesterone and adrenal androgen levels. Tumour markers were negative. Following treatment with anastrazole, his height velocity slowed down. At the age of 13.7 years, his treatment was stopped. At the age of 14.8 years, he presented with a grossly enlarged right testis and elevated beta human chorionic gonadotrophin (>1,400 IU/l). He underwent right orchidectomy and histology revealed an embryonal carcinoma with no vascular invasion. Analysis of luteinizing hormone/choriogonadotrophin receptor revealed no mutation.
We present a case of testicular embryonal carcinoma in a boy who had presented 5 years before with features suggestive of gonadotrophin-independent precocious puberty.
Twenty-five adult asthmatic patients were entered into a double-blind random crossover comparison of Theocontin Continus tablets with Nuelin S.A. The patients received additional therapy with inhaled ...salbutamol and/or beclomethasone diproprionate. Four patients withdrew because of persistent unwanted side-effects, nausea and headaches in three, and mental confusion in one, and a fifth withdrew for non-medical reasons. Analysis of the results of the remaining twenty patients showed no difference between the effects of the two preparations in symptom scoring, reduction in salbutamol inhaler use and improvement in respiratory function as measured by daily PEFR, at similar serum levels. The same dosage per kilogram for either preparation gave virtually identical mean serum levels suggesting there is no difference in the rate of absorption between the two preparations.
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