Familial hypercholesterolaemia and quality of life in family members.

BACKGROUND: Awareness of genetic disease in the family may influence quality of life. The purpose of this study was to describe quality of life among nonaffected members of families with familial hypercholesterolaemia. All were aware of the risk for coronary heart disease. Their quality of life was compared with a reference group and with the patients with familial hypercholesterolaemia themselves. METHODS: Names of family members (n = 129) were given by the patients with familial hypercholesterolaemia. A randomly selected reference group (n = 1485) and patients with familial hypercholesterolaemia (n = 185) were included for comparison. They all completed the questionnaire Quality of Life Index, the Hospital Anxiety and Depression Scale, and the Mastery Scale measuring coping. Family members and patients with familial hypercholesterolaemia also completed a questionnaire on health and lipids. RESULTS: Family members were more satisfied with family life, mean 22.1 +/- 3.5 (SD), and psychological/spiritual life, 22.9 +/- 4.0, than the reference group, 21.4 +/- 4.3 and 21.1 +/- 4.8, respectively; this was particularly expressed among partners, P < 0.05. Of family members, 91% were anxious about the patient with familial hypercholesterolaemia developing coronary heart disease. CONCLUSIONS: Family members have as good a quality of life as members of the reference group, but they were anxious about the patient with familial hypercholesterolaemia developing coronary heart disease.

Quality of life in patients with familial hypercholesterolaemia.

OBJECTIVES: The primary aim of this study was to analyse quality of life in adult patients with familial hypercholesterolaemia (FH), a genetic disorder with increased risk of coronary heart disease (CHD). Secondary aims were to find explanatory factors for quality of life and anxiety. DESIGN: A descriptive cross-sectional design was used. SETTING: Outpatients from lipid clinics at two university hospitals in Sweden were included. Patients with heterozygous FH and a randomly selected control group participated by filling out questionnaires. SUBJECTS: Two hundred and eighty patients with heterozygous FH above 18 years of age were asked, and 212 of whom 185 were free of overt CHD, participated. Of a control group of 2980 persons 1485 were included for comparison. METHODS: We used Likert-type questionnaires: the Quality of Life Index (QLI) consisting of four subscales, the Hospital Anxiety and Depression Scale (HAD), the Mastery Scale measuring coping and a questionnaire on health and lipids constructed for FH patients. RESULTS: Patients with FH were significantly more satisfied with overall quality of life 21.8 +/- 0.3 (SEM) vs. controls 21.1 +/- 0.1 and this was also the case in three of four subscales, all differences P < 0.05. Anxiety about getting CHD was expressed amongst 86% of the patients with FH. CONCLUSIONS: Quality of life amongst patients with FH was at least as good as in controls but they were worried about getting CHD.

Pediatric sedation: the art and science.

Successful completion of diagnostic and therapeutic orthopaedic procedures in children requires a high level of cooperation and pain control. This article provides a framework for safe and effective sedation of children undergoing such procedures. Following the definition of levels of sedation, the dynamics of the three phases of sedation (pre, intra, and post) are described. Specific sedative-analgesic agents, monitoring, and transport are discussed. Finally, the art of working with children who require sedation is outlined.

Helium-oxygen improves Clinical Asthma Scores in children with acute bronchiolitis.

OBJECTIVE: To determine the efficacy of a helium-oxygen mixture in children admitted to the pediatric intensive care unit with acute respiratory syncytial virus (RSV) bronchiolitis. DESIGN: Randomized, double-blind, controlled, crossover study and nonrandomized, prospective study. SETTING: A pediatric intensive care unit in a university hospital. PATIENTS: Nonintubated children with signs of acute lower respiratory tract infection and a positive rapid immunoassay for RSV admitted to the pediatric intensive care unit. INTERVENTIONS: Treatment with either helium-oxygen or air-oxygen was administered in random order for 20 mins. Nonrandomized patients received helium-oxygen as initial therapy. MEASUREMENTS AND MAIN RESULTS: Clinical Asthma Score, respiratory rate, heart rate, and pulse oximetry oxygen saturation values were recorded at baseline (before randomization) and at the end of each 20-min treatment period (helium-oxygen or air-oxygen). Nonrandomized patients were studied 20 mins into helium-oxygen delivery. Eighteen patients were studied, 13 of whom were randomized. Five children with severe bronchiolitis (Clinical Asthma Score of > or =6) were initially given helium-oxygen and scored at 20 mins. Mean Clinical Asthma Score was 3.04 (range 1 to 7.5) in the 13 randomized patients and 4.25 (range 1 to 9) in the 18 patients overall. Clinical Asthma Score decreased in the 13 randomized patients (mean 0.46, p < .05) and in the 18 patients overall (mean 1.23, p < .01) during helium-oxygen delivery. In randomized patients with Clinical Asthma Scores of <6 (n = 12), a positive correlation (rs = .72) was observed between the Clinical Asthma Score at baseline and the change in Clinical Asthma Score during helium-oxygen administration (p = .009). Respiratory rate and heart rate decreased during helium-oxygen treatment but were not statistically significant. No complications occurred during helium-oxygen delivery. CONCLUSIONS: Inhaled helium-oxygen improves the overall respiratory status of children with acute RSV lower respiratory tract infection. In patients with mild-to-moderate bronchiolitis (Clinical Asthma Scores of <6), the beneficial effects of helium-oxygen were most pronounced in children with the greatest degree of respiratory compromise.

Results of a pediatric sedation program on head MRI scan success rates and procedure duration times.

The purpose of this study was to determine if a pediatric sedation program improved head magnetic resonance imaging (MRI) scan success rates and procedure duration times compared with the year preceding the program. Sedation was successful in 189 (85.1%) of 222 children before the program compared with 211 (98.1%) of 215 children during the program (P < 0.001). Mean procedure duration times for head MRI scans with and without contrast were shorter in the program compared with before the program (58.7 +/- 1.4 min versus 71.8 +/- 3.0 min, P < 0.001, and 46.7 +/- 1.2 min versus 58.5 +/- 1.9 minutes, P < 0.001, respectively). No major complications occurred during the 15-month period in the sedation program. We conclude that sedation for pediatric MRI, managed by an organized pediatric sedation program, is highly successful, efficient, and safe.

Overt glucocorticoid excess due to inhaled corticosteroid therapy.

Inhaled corticosteroids have become an important therapeutic option in the treatment of childhood asthma. The preparations currently available for pediatric use (beclomethasone dipropionate and triamcinolone acetonide) do not, in general, cause significant hypothalamic-pituitary-adrenal axis suppression and physical signs of glucocorticoid excess have not been described with their use. We report an 8-year-old girl with asthma in whom obesity, hirsutism, and growth retardation developed during treatment with inhaled triamcinolone acetonide alone. Laboratory studies showed suppression of endogenous cortisol production but did not demonstrate suppression of the hypothalamic-pituitary-adrenal axis. Cessation of inhaled triamcinolone acetonide therapy resulted in resolution of obesity and hirsutism, resumption of normal growth, and a return to normal of serum cortisol levels and urinary 17-hydroxycorticosteroid excretion. Careful monitoring of growth velocity and (if clinically indicated) morning serum cortisol levels in asthmatic children using inhaled corticosteroids will detect the rare instance of glucocorticoid excess resulting from systemic absorption of these drugs.