The benefits of newborn screening for cystic fibrosis: The Canadian experience.

BACKGROUND: The impact of newborn screening (NBS) for cystic fibrosis (CF) on early indicators of long-term health was evaluated in the context of government-sponsored healthcare and access to current therapies. METHODS: Using data from the Canadian CF Registry between 2008 and 2013, we compared the rates of respiratory infections and markers of nutritional status in those diagnosed through NBS to those who were diagnosed clinically within the same time period using Mann-Whitney and Fischer's exact test as appropriate. RESULTS: The study included 303 subjects, 201 in the NBS group and 102 in the non-NBS group. NBS patients were diagnosed earlier and had their first clinic visit at a younger age. Pancreatic insufficiency was less common in NBS patients. The incidence of Pseudomonas aeruginosa and Staphylococcus aureus were lower in NBS patients. After adjusting for age at clinic visit, gender, pancreatic status, and Pseudomonas aeruginosa infection status, mean z-scores for weight-for-age and height-for-age were higher in NBS patients, with no differences in BMI-for-age. CONCLUSIONS: NBS programs for CF lead to improved long-term health outcomes for the CF population.

Cystic fibrosis (cf) and ovarian reserve: A cross-sectional study examining serum anti-mullerian hormone (amh) in young women.

BACKGROUND: Reduced female fertility in CF is believed to be due to thick cervical mucous, poor nutritional status, functional hypogonadotropic hypogonadism and possibly increased inflammation. Literature suggests that reduced ovarian reserve may also play a role. METHODS: 20 women with CF and 20 controls age 18-35 years were recruited. Serum anti-mullerian hormone (AMH), estradiol and follicle stimulating hormone (FSH) were assessed as well as antral follicle count (AFC) using transvaginal ultrasound. RESULTS: Women with CF had significantly lower AMH levels than controls (17.8+/-4.7 vs. 33.2+/-21.0 pmol/L respectively; p=0.004). There were no differences in estradiol, FSH or AFC. CONCLUSIONS: Women with CF have reduced ovarian reserve which may contribute to sub-fertility. CF care providers should consider referring women with CF to fertility specialists early to optimize chances of pregnancy.

Impaired exercise performance after successful liver transplantation.

BACKGROUND: Recipients of heart, lung, and kidney transplants have impaired peak exercise performance (peak Vo2 40% to 60% predicted, reduced anaerobic threshold [AT]) without evidence of ventilatory or cardiac limitations. The aim of this study was to determine whether similar exercise impairment occurs in liver transplant recipients. METHODS: We studied eight healthy liver transplant recipients (age 42+/-9 [SD] years, 6 male, 31+/-13 months posttransplant). Immunosuppression included FK506 or cyclosporine, azathioprine or mycophenolate mofetil, and prednisone. Subjects underwent lung function testing and cardiopulmonary exercise testing on a cycle ergometer. RESULTS: Peak exercise oxygen consumption (Vo2) was 22+/-8 ml/min/kg (66+/-20% predicted maximum). No subject demonstrated exercise desaturation or ventilatory limitation (peak minute ventilation 55+/-8% predicted maximum voluntary ventilation). Peak heart rate was 87+/-8% of predicted maximum. Early AT was evident (1.2+/-0.34 L/min, 48+/-11% predicted Vo2max). CONCLUSIONS: Liver transplant recipients exhibit impaired peak exercise performance similar to that observed after other solid organ transplants, possibly as a result of chronic deconditioning or myopathy related to immunosuppressive medications.

Adolescent suicide and families: an ecological approach.

Suicide is an issue of increasing concern for professionals who work with adolescents and their families. Over the past three decades, the rate of suicide has increased dramatically among 15- to 24-year-olds and is the third leading cause of death in this age group. Previous theoretical approaches to understanding adolescent suicide (i.e., Durkheim's sociological theory of suicide, social learning theory, psychological theory, and family systems theory) are reviewed, and the utilization of human ecological theory is proposed. Factors associated with adolescent suicide at the organism (individual), microsystem, mesosystem, exosystem, and macrosystem levels are examined. Finally, examples of prevention and intervention at each level are presented.

Family characteristics and adolescent substance use.

Using self-report questionnaire data from high school students (N = 253), the relation between adolescents' perceptions of family characteristics and adolescent substance use patterns were examined. Results indicated that adolescents' perception of maternal substance use, family hardiness, and age of the adolescent were significant predictors of adolescent substance use. Implications are presented.

The environmental and economic sustainability of potential bioethanol from willow in the UK.

Life cycle assessment has been used to investigate the environmental and economic sustainability of a potential operation in the UK in which bioethanol is produced from the hydrolysis and subsequent fermentation of coppice willow. If the willow were grown on idle arable land in the UK, or, indeed, in Eastern Europe and imported as wood chips into the UK, it was found that savings of greenhouse gas emissions of 70-90%, when compared to fossil-derived gasoline on an energy basis, would be possible. The process would be energetically self-sufficient, as the co-products, e.g. lignin and unfermented sugars, could be used to produce the process heat and electricity, with surplus electricity being exported to the National Grid. Despite the environmental benefits, the economic viability is doubtful at present. However, the cost of production could be reduced significantly if the willow were altered by breeding to improve its suitability for hydrolysis and fermentation.

Myositis associated graft-versus-host-disease presenting as respiratory muscle weakness.

Myositis associated with graft-versus-host-disease (GVHD) typically presents with proximal muscle weakness, myalgias, and a raised creatinine phosphokinase (CPK) level. We report a case of a 51 year old man who developed respiratory muscle weakness five years after an allogeneic bone marrow transplant for multiple myeloma. His symptoms included tachypnoea, abdominal paradox, and orthopnoea. Pulmonary function tests revealed diminished vital capacity and maximal inspiratory and expiratory pressures. Serum CPK levels were raised and a peripheral muscle biopsy specimen was consistent with GVHD. He improved with immunosuppressive therapy.