Carrier screening for Canavan disease in Australia

This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.     

A pilot study of dendroaspis natriuretic peptide in aneurysmal subarachnoid hemorrhage

OBJECTIVE: Hypovolemia after aneurysmal subarachnoid hemorrhage (SAH) may be mediated by natriuretic peptides and can further impair cerebral perfusion in dysautoregulated and vasospastic arterial territories. Dendroaspis natriuretic peptide (DNP), derived from the venom of Dendroaspis augusticeps, the Green Mamba snake, has recently been discovered in human plasma and atrial myocardium. There is no information regarding the presence or putative role of this peptide in patients with aneurysmal SAH. METHODS: A sensitive and specific DNP radioimmunoassay was performed on venous blood samples obtained on post-SAH Days 1, 3, and 7 from 10 consecutive SAH patients (cases) and randomly from 9 healthy volunteers (controls). Clinical and laboratory data, including daily serum sodium concentration and fluid balance, were collected prospectively up to 7 days after the ictus. RESULTS: Increase in plasma DNP levels occurred in five (63%) of eight patients who had DNP levels measured on Days 1 and 3 (mean increase, 29%). An increase in DNP level was significantly associated with development of a negative fluid balance (P = 0.003) and hyponatremia (P = 0.008). Three (75%) of the four patients who developed cerebral vasospasm during this study experienced an increase in DNP levels from Days 1 to 3. CONCLUSION: The present study is the first to find a significant association between elevated levels of DNP, a new member of the natriuretic peptide family, and the development of diuresis and natriuresis in patients with aneurysmal SAH. Our findings warrant further investigation by means of a large-scale, prospective, case-control study.     

The impact of sildenafil on molecular science and sexual health

OBJECTIVE: Sexual medicine has evolved greatly in the past several years, to a large extent because of the introduction of the phosphodiesterase-5 (PDE5) inhibitor, Viagra (sildenafil citrate), as a highly effective oral therapy for erectile dysfunction. METHODS: Recent literature pertaining to the development and clinical applications of sildenafil citrate was reviewed. RESULTS: The emergence of PDE5 inhibitor therapy for erectile dysfunction represents a major scientific and clinical breakthrough, and it has impacted on the field in such prominent areas as scientific discovery, clinical management, and public health awareness of sexual health disorders. CONCLUSION: The development of sildenafil citrate has had a major role in advancing the field of sexual medicine.     

Nurse management of intractable functional constipation: a randomised controlled trial

Aims: To evaluate the effectiveness of a nurse led clinic (NLC) compared with a consultant led paediatric gastroenterology clinic (PGC) in the management of chronic constipation. Methods: Children (age 1–15 years) with functional constipation were randomised following a detailed medical assessment to follow up in either the NLC or PGC. An escalating algorithm of treatment was used as the basis of management in both the NLC and PGC. Main outcome measures were: time to cure at last visit or later confirmed by telephone; time to cure at last visit; and time to prematurely leaving the study. Results: A total of 102 children were recruited, of whom 52 were randomly assigned to NLC and 50 to PGC. Outcome assessment showed that 34 children in the NLC and 25 children in the PGC were confirmed cured at their last visit or later confirmed by telephone. The median time to cure was 18.0 months in the NLC and 23.2 months in the PGC. The probability of being cured was estimated as 33% higher in the NLC compared to PGC (hazard ratio 1.33). Attending the NLC hastened time to cure by an estimated 18.4%. Conclusion: Children who attend an NLC are equally as, if not more likely to be cured of intractable constipation, than those attending a PGC and on average their cure will occur sooner. Results suggest that an NLC can significantly improve follow up for children with intractable constipation and highlight the important role for clinic nurse specialists in management of children with gastrointestinal disease.     

Participation bias in a population-based echocardiography study

PURPOSE: To compare the characteristics of participants and non-participants in a population-based study of cardiac ventricular function. METHODS: Subjects aged 45 years and older on January 1, 1997 were recruited from a sampling frame of Olmsted County residents from the Rochester Epidemiology Project. Subjects were asked to complete a 17-page questionnaire and participate in a 4-hour clinical examination that included a brief physical examination, echocardiography, spirometry, and an electrocardiogram. With specific IRB approval, the community medical records of participants and non-participants from the first wave of recruitment were examined by trained nurse abstractors to elicit details of past medical history. RESULTS: Of the first 963 persons invited to participate in the study, 488 (51%) completed all phases of the examination. Participation rates were similar among men and women (53% vs. 49%, respectively). By age, participation rates were lowest among persons aged 75 years and older (44.7% and 34.9%) and 45 to 54 years (45.4% and 44.3%) for men and women. Participation rates were not different according to past history of coronary heart disease, congestive heart failure, or other cardiovascular disease. Persons with a history of chronic obstructive pulmonary disease were less likely to participate (19.4% vs. 51%; odds ratio, 0.36; 95% confidence interval, 0.18, 0.76) after adjustment for age, sex, and comorbid conditions. CONCLUSIONS: These results provide some reassurance that participation bias in this study may have little influence on its overall findings, although this cannot be conclusive.     

Association between particulate air pollution and first hospital admission for childhood respiratory illness in Vancouver, Canada

In this study, the authors assessed the impact of particulate air pollution on first respiratory hospitalization. Study subjects were children less than 3 years of age living in Vancouver, British Columbia, who had their first hospitalization as a result of any respiratory disease (ICD-9 codes 460-519) during the period from June 1, 1995, to March 31, 1999. The authors used logistic regression to estimate the associations between ambient concentrations of particulate matter (PM) and first hospitalization. The adjusted odds ratios for first respiratory hospitalization associated with mean and maximal PM10-2.5 with a lag of 3 days were 1.12 (95% confidence interval: 0.98, 1.28) and 1.13 (1.00, 1.27). After adjustment for gaseous pollutants, the corresponding odds ratios were 1.22 (1.02, 1.48) and 1.14 (0.99, 1.32). The data indicated the possibility of harmful effects from coarse PM on first hospitalization for respiratory disease in early childhood.     

Decompensated heart failure: is there a role for the outpatient use of nesiritide?

Heart failure (HF) management has seen enormous advances in the past two decades, including publication of HF management guidelines targeted at further reduction of morbidity and mortality. Nonetheless, the morbidity of HF has steadily increased and now represents one of the largest health care expenditures in this country. Because hospitalization for HF is most likely for patients with more advanced HF, they share a disproportionate burden of the hospitalization costs and will require treatment regimens beyond the current guidelines, if this burden is to be alleviated. In June 2004, a group of investigators who helped establish the natriuretic peptide treatment paradigm, met to discuss the potential role of nesiritide as an outpatient treatment option for patients with symptomatic HF who were at high risk for repeated admissions, a syndrome now described as "chronic decompensated HF." This report presents their considerations on the contribution of natriuretic peptide physiology to the amelioration of progressive left ventricular dysfunction, the therapeutic use of B-type natriuretic peptide, and its potential application to the outpatient management of acute and chronic decompensated HF. The use of outpatient IV nesiritide was considered a promising treatment option for symptomatic chronic decompensated HF patients that merits further investigation. Such an approach, once validated, should be integrated into an evidence-based HF disease management program.