To assess the prevalence of sleep-disordered breathing in a nonselected group of children with Down syndrome and to determine significant predisposing factors for this condition. Prospective study. Tertiary care university hospital in Madrid, Spain. The study population included 108 consecutive children with Down syndrome (mean [SD] age, 7.9 [4.5] years; range, 1–18 years) independently of whether or not suggestive clinical features of sleep-disordered breathing were present. In addition to history, physical examination, and lateral radiographs of the nasopharynx, all participants underwent an overnight cardiorespiratory polygraphy at the hospital using a portable ambulatory device (Apnoescreen II plus). An apnea-hypopnea index of at least 3 was required for defining the presence of sleep-disordered breathing. The prevalence of sleep-disordered breathing was 54.6%, with a significantly higher prevalence in boys (64.7%) than in girls (38.5%) (P < .05). The group with sleep-disordered breathing was significantly younger (6.4 [3.9] years) than those with normal polysomnographic recordings (9.6 [4.6] years) (P < .001). In the multivariate analysis, age (less than 8 years old) (odds ratio [OR], 3.36; 95% confidence interval [CI], 1.40, 8.06); male sex (OR, 3.32; 95% CI, 1.32, 8.12); and tonsillar hyperplasia (OR, 5.24; 95% CI, 1.52, 19.03) were significantly associated with sleep-disordered breathing. Body mass index, adenoid hyperplasia, previous tonsillectomy or adenoidectomy, congenital heart disease, malocclusion, and macroglossia did not affect the prevalence of sleep-disordered breathing. The prevalence of sleep-disordered breathing in children with Down syndrome is very high, particularly in boys. Tonsillar hyperplasia may play a role in the pathophysiology of sleep-disordered breathing in these patients. Adenoid hyperplasia, obesity, and congenital heart disease were not important risk factors for sleep-disordered breathing.

Chronic obstructive pulmonary disease (COPD) is commonly associated with heart failure (HF) in clinical practice since they share the same pathogenic mechanism. Both conditions incur significant morbidity and mortality. Therefore, the prognosis of COPD and HF combined is poorer than for either disease alone. Nevertheless, usually only one of them is diagnosed. An active search for each condition using clinical examination and additional tests including plasma natriuretic peptides, lung function testing, and echocardiography should be obtained. The combination of COPD and HF presents many therapeutic challenges. The beneficial effects of selective ß1-blockers should not be denied in stable patients who have HF and coexisting COPD. Additionally, statins, angiotensin-converting enzyme inhibitors, and angiotensin-receptor blockers may reduce the morbidity and mortality of COPD patients. Moreover, caution is advised with use of inhaled ß2-agonists for the treatment of COPD in patients with HF. Finally, noninvasive ventilation, added to conventional therapy, improves the outcome of patients with acute respiratory failure due to hypercapnic exacerbation of COPD or HF in situations of acute pulmonary edema. The establishment of a combined and integrated approach to managing these comorbidities would seem an appropriate strategy. Additional studies providing new data on the pathogenesis and management of patients with COPD and HF are needed, with the purpose of trying to improve quality of life as well as survival of these patients.

OBJECTIVE To test if knowledge of type 2 diabetes genetic variants improves disease prediction. RESEARCH DESIGN AND METHODS We tested 40 single nucleotide polymorphisms (SNPs) associated with diabetes in 3,471 Framingham Offspring Study subjects followed over 34 years using pooled logistic regression models stratified by age (<50 years, diabetes cases = 144; or ≥50 years, diabetes cases = 302). Models included clinical risk factors and a 40-SNP weighted genetic risk score. RESULTS In people <50 years of age, the clinical risk factors model C-statistic was 0.908; the 40-SNP score increased it to 0.911 (P = 0.3; net reclassification improvement (NRI): 10.2%, P = 0.001). In people ≥50 years of age, the C-statistics without and with the score were 0.883 and 0.884 (P = 0.2; NRI: 0.4%). The risk per risk allele was higher in people <50 than ≥50 years of age (24 vs. 11%; P value for age interaction = 0.02). CONCLUSIONS Knowledge of common genetic variation appropriately reclassifies younger people for type 2 diabetes risk beyond clinical risk factors but not older people.

Background: COPD is currently the fourth cause of morbidity and mortality in the developed world. Patients with COPD experience a progressive deterioration and disability, which lead to a worsening in their health-related quality of life (HRQoL). The aim of this work is to assess the Health-Related Quality of Life (HRQoL) of patients with stable COPD followed in primary care and to identify possible predictors of disease.Methods: It is a multicenter, epidemiological, observational, descriptive study. Subjects of both sexes, older than 40 years and diagnosed of COPD at least 12 months before starting the study were included. Sociodemographic data, severity of disease, comorbidity, and use of health resources in the previous 12 months were collected. All patients were administered a generic quality-of-life questionnaire, the SF-12, that enables to calculate two scores, the physical (PCS-12) and the mental (MCS-12) component summary scores.Results: 10,711 patients were evaluated (75.6% men, 24.4% women), with a mean age of 67.1 years (SD 9.66). The mean value of FEV₁was 35.9 ± 10.0%. Mean PCS-12 and MCS-12 scores were 36.0 ± 9.9 and 48.3 ± 10.9, respectively. Compared to the reference population, patients with COPD had a reduction of PCS-12, even in mild stages of the disease. The correlation with FEV₁was higher for PCS-12 (r = 0.38) than for MCS-12 (r = 0.12). Predictors for both HRQoL components were sex, FEV₁, use of oxygen therapy, and number of visits to emergency rooms and hospital admissions. Other independent predictors of PCS-12 were age, body mass index and educational level.Conclusion: Patients with stable COPD show a reduction of their HRQoL, even in mild stages of the disease. The factors determining the HRQoL include sex, FEV₁, use of oxygen therapy, and number of visits to emergency rooms and hospital admissions.