Structured type 1 diabetes education delivered in routine care in Australia reduces diabetes-related emergencies and severe diabetes-related distress: The OzDAFNE program.

AIMS: To evaluate structured type 1 diabetes education delivered in routine practice throughout Australia. METHODS: Participants attended a five-day training program in insulin dose adjustment and carbohydrate counting between April 2007 and February 2012. Using an uncontrolled before-and-after study design, we investigated: HbA1c (% and mmol/mol); severe hypoglycaemia; diabetes ketoacidosis (DKA) requiring hospitalisation, and diabetes-related distress (Problem Areas in Diabetes scale; PAID), weight (kg); body mass index. Data were collected pre-training and 6-18 months post-training. Change in outcome scores were examined overall as well as between groups stratified by baseline HbA1c quartiles. Data are mean ± SD or % (n). RESULTS: 506 participants had data eligible for analysis. From baseline to follow-up, significant reductions were observed in the proportion of participants reporting at least one severe hypoglycaemic event (24.7% (n=123) vs 12.1% (n=59), p<0.001); and severe diabetes-related distress (29.3% (n=145) vs 12.6% (n=60), p<0.001). DKA requiring hospitalisation in the past year reduced from 4.1% (n=20) to 1.2% (n=6). For those with above target baseline HbA1c there was a small, statistically significant improvement (n=418, 8.4 ± 1.1% (69 ± 12 mmol/mol) to 8.2 ± 1.1% (66 ± 12 mmol/mol). HbA1c improvement was clinically significant among those in the highest baseline quartile (n=122, 9.7 ± 1.1% (82 ± 11 mmol/mol) to 9.0 ± 1.2% (75 ± 13 mmol/mol), p<0.001). CONCLUSIONS: The proportion of participants reporting severe hypoglycaemia, DKA and severe diabetes-related distress was at least halved, and HbA1c reduced by 0.7% (7 mmol/mol) among those with highest baseline levels. Structured type 1 diabetes education delivered in routine practice offers clinically important benefits for those with greatest clinical need.

Quality assurance through quality improvement and professional development in the National Breast and Cervical Cancer Early Detection Program.

Quality assurance (QA) is the process of providing evidence that the outcome meets the established standards. Quality improvement (QI), by contrast, is the act of methodically developing ways to meet acceptable quality standards and evaluating current processes to improve overall performance. In the case of the National Breast and Cervical Cancer Early Detection Program (NBCCEDP), the desired outcome is the delivery of quality health care services to program clients. The NBCCEDP provides professional development to ensure that participating providers have current knowledge of evidence-based clinical standards regarding breast and cervical cancer screening and diagnosis and are monitoring women with abnormal screening results for timely follow-up. To assess the quality of clinical care provided to NBCCEDP clients, performance data are collected by NBCCEDP grantees and compared against predetermined Centers for Disease Control and Prevention (CDC) benchmarks known as Data Quality Indicator Guides. In this article, the authors describe 1) the development and use of indicators for QI in the NBCCEDP and 2) the professional development activities implemented to improve clinical outcomes. QA identifies problems, whereas QI systematically corrects them. The quality of service delivery and improved patient outcomes among NBCCEDP grantees has enhanced significantly because of continuous monitoring of performance and professional development. By using QA, NBCCEDP grantees can maximize the quality of patient screening, diagnostic services, and follow-up. Examples of grantee activities to maintain quality of care are also described in this report.

Abnormal mitral valve anatomy in d-transposition of the great arteries: anatomic characterization and surgical outcomes.

Mitral valve anomalies can occur with S,D,D-transposition of the great arteries (d-TGA). Their influence on surgical technique and outcome after an arterial switch operation (ASO) has not been well described. Patients with d-TGA who underwent ASO from February 1990 to January 2011 were identified. Echocardiograms, operative reports, hospital course, and latest follow-up evaluation were reviewed. A total of 218 infants underwent ASO at a median age of 15.8 days. Survival was 95 % during a mean follow-up period of 60 months. Nine patients (4 %) were found to have similar mitral valve anomalies including anterior malalignment conoventricular septal defect, anterior displacement of the mitral valve toward the left ventricular outflow tract (LVOT), malpositioning of the posteromedial papillary muscle, unusual rotation of the mitral valve leaflets orienting the commissure toward the anterior ventricular septum, and redundant mitral valve tissue extending into the LVOT. Coarctation was more frequent in this subgroup (33 vs. 10 %; p = 0.05). Preoperative echocardiography consistently indicated suspicion of a cleft mitral valve with chordal attachments to the ventricular septum causing potential LVOT obstruction. Operative inspection did not identify a cleft or anomalous attachments in any patient, and no valvuloplasty or chordal manipulation was performed. The average hospital length of stay were similar (30.7 vs. 25.3 days; p = 0.54). One patient died late due to progressive LVOT obstruction, and one required heart transplantation. No patient had significant mitral valve regurgitation. We conclude that mitral valve anomalies associated with d-TGA are rare but present with consistent anatomic features and higher risk of coarctation. Unusual mitral valve apparatus positioning and chordal redundancy can suggest the need for valvuloplasty and chordal resection preoperatively, but this is rarely needed.

Human gene copy number spectra analysis in congenital heart malformations.

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency "spectra" to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (≥200 kb) and losses (≥100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ≤ 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ≤ 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways.

Exploring the environmental and genetic etiologies of congenital heart defects: the Wisconsin Pediatric Cardiac Registry.

INTRODUCTION: The Wisconsin Pediatric Cardiac Registry (WPCR) collects information on infants born in the state of Wisconsin with structural congenital heart disease (CHD). METHODS: The WPCR actively ascertains CHD cases in the state of Wisconsin. Cases must be conceived and born in Wisconsin after January 1, 2000. Once ascertained, subjects are approached to participate in genetic sampling and completion of a questionnaire that assesses family history of CHD, maternal health, and environmental exposures before pregnancy and during the first trimester. In 2009, the WPCR underwent a transition to a new database and from a paper questionnaire to a Web-based questionnaire. RESULTS: The WPCR has screened over 5,100 children and has ascertained 4,919 cases of CHD in the state of Wisconsin during the years 2000 to 2009. During this interval, 1,982 completed questionnaires and 1,062 DNA samples have been obtained from consented subjects. Another 1,774 DNA samples have been obtained from blood relatives of CHD subjects. DISCUSSION: The WPCR operates as a specialized resource of genetic and environmental information on children with CHD for researchers focusing on the multifactorial causes of CHD.

Impact of a chest-pain guideline on clinical decision-making.

OBJECTIVE: To evaluate the impact of a chest-pain guideline on clinical decision-making and medium-term outcomes of patients presenting to a hospital emergency department (ED) with non-traumatic chest pain. DESIGN: Before-and-after guideline implementation study. SETTING: Bankstown-Lidcombe Hospital, Sydney, NSW (454-bed metropolitan teaching hospital), in the six-month periods before and after guideline implementation in February 2001. PARTICIPANTS: Patients presenting to the ED with non-traumatic chest pain who had chest-pain assessment forms completed by ED doctors, comprising 422/768 (54.9%) of those presenting before and 461/691 (66.7%) after guideline implementation. MAIN OUTCOME MEASURES: Appropriateness of admission/discharge decisions compared with decision of senior cardiologist based on guideline; death, recurrent chest pain, ED re-presentation and hospital readmission in the ensuing three months. RESULTS: After guideline implementation, appropriate admission/discharge decisions increased significantly from 180/265 (68%) to 261/324 (81%) (difference, 13%; 95% CI, 6%-20%). The largest increase was for patients at moderate risk of death or acute myocardial infarction within six months, from 39/96 (38%) to 57/103 (55%) (difference, 18%; 95% CI, 4%-31%). Increases were seen for both junior doctors (interns and resident medical officers) (18%; 95% CI, 7%-30%) and senior doctors (11%; 95% CI, 2%-19%). Logistic regression showed that implementation of the guideline, seniority of assessing doctor and patient history of coronary disease were independent predictors of appropriate decisions. There was a significant decline in re-presentations to ED with recurrent chest pain in patients previously presenting with cardiac or possibly cardiac pain, from 46/201 (23%) before implementation to 32/247 (13%) after (difference, 210%; 95% CI, 217% to 23%). CONCLUSIONS: The chest-pain guideline resulted in a significant improvement in clinical decision-making in the ED and reduced re-presentations with cardiac/possibly cardiac chest pain.

Satisficing in hypothesis generation.

Research in hypothesis generation suggests that people might act as satisficers and be less likely to generate plausible alternative hypotheses when they already have a hypothesis that accounts for the data in hand. Three experiments simulated scientific hypothesis development. In all 3, participants who had been given a hypothesis consistent with available data generated proportionally fewer of the simplest alternative hypotheses than participants given no such satisficing hypothesis. Furthermore, participant satisficing occurred regardless of whether the provided hypothesis was generated a priori or post hoc and despite high incentives for completeness. Limitations and implications of these findings are discussed for hypothesis development and the practice of taking post hoc hypotheses suggested by one's results and presenting them as a priori hypotheses.