The role of primary care in management of rare diseases in Ireland.

BACKGROUND: 'Slaintecare' aims to address complex patient care needs in an integrated fashion with an emphasis on patient-centred, patient-empowered community care.Currently there is a lack of knowledge of the impact of rare disease management in primary care and of the information tools required by general practitioners to deliver integrated care for rare disease patients. AIMS: To complete a pilot survey to estimate the general practice clinical workload attributable to selected rare diseases and assess the use of relevant information sources. METHODS: A retrospective cross-sectional survey was carried out of general practice consultations (2013-2017) for patients with 22 commonly recognised rare diseases. RESULTS: Around 31 general practitioners from 10 Irish practices completed information on 171 patients with rare diseases over 3707 consultations. General practice-specific coding systems were inadequate for rare disease patient identification. Over 139 (81.3%) patients were adult, and 32 (18.7%) were children. Management of care was hospital and not primary care based in 63%. Those eligible for state-reimbursed care had a significantly higher median number of consultations (23 consultations, IQR = 13-37, or 5.8 consultations/year) than those who paid privately (10 consultations, IQR = 4-19, or 2.5 consultations/year) (p < 0.005).General practitioners had access to public information resources on rare diseases but few had knowledge of (35.5%), or had ever used (12.9%) Orphanet, the international rare disease information portal. CONCLUSIONS: Both specific rare disease-specific coding and use of the relevant rare disease information sources are lacking in general practice in Ireland.

Physical activity is associated with risk factors for chronic disease across adult women's life cycle.

OBJECTIVE: The purpose of this study was to examine the association of age (young, midlife, and older) and activity level (active and sedentary), determined by a pedometer, with risk factors of chronic disease, including body composition, dietary intake, serum lipids, insulin, leptin, C-reactive protein (CRP), plasma glucose, and resting metabolic rate (RMR) in women across the adult life cycle. METHODS: Young (aged 20 to 30 years) (n=49), midlife (aged 40 to 50 years) (n=62), and older (aged 60 years and older) (n=47) women were recruited for this cross-sectional study. For 7 days, participants completed weighed food records and wore a pedometer. Based on the average number of steps per day, the women were further classified as active (>/=7,500 steps per day) or sedentary (<7,500 steps per day). Height, weight, and waist circumference were determined for each participant. Fasting blood samples were taken to assess serum lipid, CRP, insulin, leptin, thyroid stimulating hormone, and plasma glucose levels. RMR and body composition (via dual-energy x-ray absorptiometry) were assessed. RESULTS: Young and midlife women had lower concentrations compared to older women for serum cholesterol (P<0.01), low-density lipoprotein cholesterol (P<0.01), triglycerides (P<0.01), leptin (P<0.01), and plasma glucose (P<0.01); midlife women had lower serum insulin concentrations vs young and older groups (P=0.01); young women had smaller waist circumference compared to midlife and older groups (P<0.01); percent body fat (P<0.01) and percent fat-free mass (P<0.01) differed between all ages. Lower values were found in active vs sedentary women for serum insulin (P=0.02), serum leptin (P<0.01), waist circumference (P<0.01) and percent body fat (P<0.01). A higher percent fat-free mass (P<0.01) was also found in active compared to sedentary women. No differences were found between activity groups for serum cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, CRP, plasma glucose levels, or RMR. RMR was higher in young and midlife vs the older women (P<0.01). Significant inverse correlations were found between activity (steps per day) and body mass index, insulin level, CRP concentration, leptin level, waist circumference, and body fat. Significant positive correlations were found between age and body mass index, total serum cholesterol level, low-density lipoprotein cholesterol level, serum triglyceride level, leptin level, plasma glucose level, CRP concentration, waist circumference, and body fat. Young and midlife women reported consuming more relative energy (kilocalories per kilogram body weight) and protein (grams per kilogram body weight) than older women (P<0.01). The midlife women reported consuming more dietary cholesterol compared to the young and older women (P<0.01). Active women reported a higher relative energy (kilocalories per kilogram body weight) and protein (grams per kilogram body weight) intake vs the sedentary women (P<0.01). Active women also reported a higher intake of dietary carbohydrates (grams per day, P<0.01; percent of energy, P=0.04). CONCLUSIONS: Overall, these results indicate that younger age and greater physical activity, despite age, are associated with fewer risk factors for chronic disease, such as cardiovascular disease, type 2 diabetes, and obesity.

Associations of Eating Two Breakfasts With Childhood Overweight Status, Sociodemographics, and Parental Factors Among Preschool Students.

BACKGROUND: School breakfast may contribute to increased risk for obesity because children may be consuming two breakfasts: at home and at school. The purpose of this study is to determine the prevalence of preschoolers consuming two breakfasts and to assess relationships with overweight/obesity and other factors. METHOD: Head Start parents (n = 273, 84.6% Hispanic) in the southwest completed cross-sectional surveys on child breakfast patterns and parental perceptions of school breakfast and personal breakfast consumption habits. Surveys were linked with sociodemographics and body mass index in Head Start databases in 2013. General estimating equation binomial models (schools as a random effect) were used to assess the relationship between two breakfasts (at home and school) and key variables, adjusting for gender, race, ethnicity, and household income. RESULTS: The prevalence of consuming two breakfasts was 34%. Children's overweight/obesity status was inversely related to two-breakfast consumption, but it was significant only for the Hispanic subgroup; the odds of being overweight/obese was 60% lower among those who ate two breakfasts (p < .05). The likelihood of consuming a second breakfast increased over twofold among children who woke up before 7 a.m. (p = .004). Among Hispanic families, a significant association was observed between children's two-breakfast consumption and parental perceptions about whether they perceived the breakfast at Head Start was culturally appropriate (p = .040). CONCLUSIONS: Not only was eating two breakfast not associated with obesity, the association was in the opposite of the expected direction and significant for Hispanic participants. Factors such as earlier wake-up time were related to reports of two breakfast intake. While more research is needed, these findings provide information for policy makers and practitioners; caution should be exercised when suggesting that breakfast programs may be related to the consumption of two breakfasts and the risk for childhood obesity, particularly among the preschool students in this study.

Infarct size and left ventricular remodelling after preventive percutaneous coronary intervention.

OBJECTIVE: We hypothesised that, compared with culprit-only primary percutaneous coronary intervention (PCI), additional preventive PCI in selected patients with ST-elevation myocardial infarction with multivessel disease would not be associated with iatrogenic myocardial infarction, and would be associated with reductions in left ventricular (LV) volumes in the longer term. METHODS: In the preventive angioplasty in myocardial infarction trial (PRAMI; ISRCTN73028481), cardiac magnetic resonance (CMR) was prespecified in two centres and performed (median, IQR) 3 (1, 5) and 209 (189, 957) days after primary PCI. RESULTS: From 219 enrolled patients in two sites, 84% underwent CMR. 42 (50%) were randomised to culprit-artery-only PCI and 42 (50%) were randomised to preventive PCI. Follow-up CMR scans were available in 72 (86%) patients. There were two (4.8%) cases of procedure-related myocardial infarction in the preventive PCI group. The culprit-artery-only group had a higher proportion of anterior myocardial infarctions (MIs) (55% vs 24%). Infarct sizes (% LV mass) at baseline and follow-up were similar. At follow-up, there was no difference in LV ejection fraction (%, median (IQR), (culprit-artery-only PCI vs preventive PCI) 51.7 (42.9, 60.2) vs 54.4 (49.3, 62.8), p=0.23), LV end-diastolic volume (mL/m2, 69.3 (59.4, 79.9) vs 66.1 (54.7, 73.7), p=0.48) and LV end-systolic volume (mL/m2, 31.8 (24.4, 43.0) vs 30.7 (23.0, 36.3), p=0.20). Non-culprit angiographic lesions had low-risk Syntax scores and 47% had non-complex characteristics. CONCLUSIONS: Compared with culprit-only PCI, non-infarct-artery MI in the preventive PCI strategy was uncommon and LV volumes and ejection fraction were similar.