The four I's of adolescent transition in type 1 diabetes care: A qualitative study.

AIMS: To explore adolescent perspectives on programme design in the transition to adult care. METHODS: We conducted five focus groups on adolescents with type 1 diabetes nearing the age of transition to adult care. Study participants also completed an embedded survey where they rated a wide range of potential transition interventions. Focus group transcripts were analysed with three iterations of line-by-line coding to triangulate themes and subthemes. RESULTS: Four themes were identified: Individualization-how to personalize the transition experience (having choices in the transition experience, meeting adult provider before transition and specific transition preparation); Identity-how the world relates to my diabetes (stigma of type 1 diabetes, confusion with type 2 diabetes, diagnosis disclosure and resilience); Interconnection-how my support system can help me with my diabetes (peer support, near peer support, parental support, loss of bond with paediatric team and fear of not having a bond with adult team); and Impediment-how my diabetes limits me (self-care takes work and time, unpredictability and restrictiveness, and emotional burden). Highly rated interventions from the survey included: good communication between the paediatric and adult teams, medical summary of past diabetes care, and having paediatric and adult teams in the same building. CONCLUSIONS: The design of future transition interventions for adolescents with type 1 diabetes should address the issues of Individualization, Identity, Interconnection and Impediment. Collaborative processes between paediatric and adult providers were also rated as important strategies to facilitate the transition to adult care.

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Treatment of chronic hypertension with intravenous enalaprilat and transdermal clonidine.

We report an 11-year-old boy with hypertension and chronic intestinal pseudo-obstruction, which renders him totally dependent on parenteral nutrition and prevents the use of oral medications. Here we report the feasibility of utilizing chronic i.v. enalaprilat and transdermal clonidine on a chronic basis to control hypertension. Over the last 10 months, the patient's hypertension has been well controlled by 1.25 mg i.v. enalaprilat every 8 h and a 0.2-mg clonidine patch every 6 days, with no apparent side-effects. There are no reports of i.v. enalaprilat usage exceeding 3 weeks' duration. Therefore we believe that it is possible to effect reasonable management of chronic hypertension with the use of chronic i.v. enalaprilat and transdermal clonidine therapy.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

UNLABELLED: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. CONCLUSION: Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

Cholelithiasis following Escherichia coli O157:H7-associated hemolytic uremic syndrome.

Sequelae of Escherichia coli O157:H7-associated hemolytic uremic syndrome (HUS) 2-3 years following an outbreak in Washington State have been prospectively studied to identify predictors of adverse sequelae. Logistic regression analysis was used to examine associations between findings in the acute course and long-term renal and gastrointestinal outcomes. Twenty-one percent of patients had gastrointestinal sequelae, which included cholelithiasis resulting in cholecystectomy (3/29), persistent pancreatitis (2/29), late colon stricture (1/29), and/or glucose intolerance (1/29). Logistic regression analysis found long-term gastrointestinal sequelae were higher in patients who, during HUS, had hypertension [odds ratio (OR) = 21.2, 95% confidence interval (CI) = 1.9-164.4, P = 0.01] or gastrointestinal complications (OR = 21.2, 95% CI = 1.9-164.4, P = 0.01). Renal sequelae were seen in 35% of patients. One patient (4%) had persistent hypertension and 9 (31%) had minor urinary findings (hematuria or proteinuria). Thrombocytopenia lasting longer than 10 days during the acute illness was associated with a risk for subsequent renal sequelae (OR = 15.0, 95% CI = 1.98-1,703.0, P = 0.009). We conclude a high incidence of gastrointestinal sequelae, especially cholelithiasis presenting long after the acute illness, may be seen with HUS. The short follow-up period may underestimate the extent and severity of eventual renal sequelae.