732 research outputs found
Primary ciliary dyskinesia: a report from ATS 2001, May 18–23, San Francisco
Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and function that leads to defective mucociliary clearance, resulting in oto-sino-pulmonary disease, and infertility. The disease is currently under intense investigation by a number of research groups worldwide. At the recent American Thoracic Society meeting in San Francisco in May 2001, two sessions focused on PCD; a symposium session on May 21 with several featured expert speakers was followed by a mini-symposium on Tuesday May 22, with one featured speaker and presentation of nine abstracts covering a range of research topics. Mattias Salathe (University of Miami, USA) and Stephen Brody (Washington University, St Louis, USA) chaired the symposium session. Presentations focused on the clinical spectrum of PCD, the genetics of PCD, a proteomics approach to detail the structure of cilia, the role of cilia in the embryology of situs laterality, and airway epithelial cell biology. The mini-symposium was chaired by Peadar Noone (University of North Carolina, USA) and Malcolm King (University of Alberta, USA) and included presentations on the use of PCD as a human disease model, accurate definition of the phenotype using clinical and cell biologic markers, and molecular studies. The latter reports ranged from isolation of a protein involved in ciliary structure and function to genetic studies using linkage analysis and the candidate gene approach. Clinicians and scientists alike displayed considerable interest at both sessions, and there were several lively question–answer sessions
Primary ciliary dyskinesia: a report from ATS 2001, May 18-23, San Francisco
Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and function that leads to defective mucociliary clearance, resulting in oto-sino-pulmonary disease, and infertility. The disease is currently under intense investigation by a number of research groups worldwide. At the recent American Thoracic Society meeting in San Francisco in May 2001, two sessions focused on PCD; a symposium session on May 21 with several featured expert speakers was followed by a mini-symposium on Tuesday May 22, with one featured speaker and presentation of nine abstracts covering a range of research topics. Mattias Salathe (University of Miami, USA) and Stephen Brody (Washington University, St Louis, USA) chaired the symposium session. Presentations focused on the clinical spectrum of PCD, the genetics of PCD, a proteomics approach to detail the structure of cilia, the role of cilia in the embryology of situs laterality, and airway epithelial cell biology. The mini-symposium was chaired by Peadar Noone (University of North Carolina, USA) and Malcolm King (University of Alberta, USA) and included presentations on the use of PCD as a human disease model, accurate definition of the phenotype using clinical and cell biologic markers, and molecular studies. The latter reports ranged from isolation of a protein involved in ciliary structure and function to genetic studies using linkage analysis and the candidate gene approach. Clinicians and scientists alike displayed considerable interest at both sessions, and there were several lively question–answer sessions
Recommended from our members
Influence of Sea-Ice Anomalies on Antarctic Precipitation Using Source Attribution in the Community Earth System Model
We conduct sensitivity experiments using a general circulation model that has an explicit water source tagging capability forced by prescribed composites of pre-industrial sea-ice concentrations (SICs) and corresponding sea surface temperatures (SSTs) to understand the impact of sea-ice anomalies on regional evaporation, moisture transport and sourcereceptor relationships for Antarctic precipitation in the absence of anthropogenic forcing. Surface sensible heat fluxes, evaporation and column-integrated water vapor are larger over Southern Ocean (SO) areas with lower SICs. Changes in Antarctic precipitation and its source attribution with SICs have a strong spatial variability. Among the tagged source regions, the Southern Ocean (south of 50 S) contributes the most (40 %) to the Antarctic total precipitation, followed by more northerly ocean basins, most notably the South Pacific Ocean (27%), southern Indian Ocean (16 %) and South Atlantic Ocean (11 %). Comparing two experiments prescribed with high and low pre-industrial SICs, respectively, the annual mean Antarctic precipitation is about 150 Gt yr1 (or 6 %) more in the lower SIC case than in the higher SIC case. This difference is larger than the model-simulated interannual variability in Antarctic precipitation (99 Gt yr1). The contrast in contribution from the Southern Ocean, 102 Gt yr1, is even more significant compared to the interannual variability of 35 Gt yr1 in Antarctic precipitation that originates from the Southern Ocean. The horizontal transport pathways from individual vapor source regions to Antarctica are largely determined by large-scale atmospheric circulation patterns. Vapor from lower-latitude source regions takes elevated pathways to Antarctica. In contrast, vapor from the Southern Ocean moves southward within the lower troposphere to the Antarctic continent along moist isentropes that are largely shaped by local ambient conditions and coastal topography. This study also highlights the importance of atmospheric dynamics in affecting the thermodynamic impact of sea-ice anomalies associated with natural variability on Antarctic precipitation. Our analyses of the seasonal contrast in changes of basin-scale evaporation, moisture flux and precipitation suggest that the impact of SIC anomalies on regional Antarctic precipitation depends on dynamic changes that arise from SICSST perturbations along with internal variability. The latter appears to have a more significant effect on the moisture transport in austral winter than in summer
Method for the Collection and HPLC Analysis of Hydrogen Peroxide and C\u3csub\u3el\u3c/sub\u3e and C\u3csub\u3e2\u3c/sub\u3e Hydroperoxides in the Atmosphere
An HPLC (high-performance liquid chromatography) method was developed to quantify hydrogen peroxide, methyl hydroperoxide. Hydroxymethyl hydroperoxide, ethyl hydroperoxide, and peroxyaectic acid in the atmosphere. Gas-phase hydroperoxides are collected in aqueous solution using a continuous-flow glass scrubbing coil and then analyzed by an HPLC postcolumn derivatization system. The detection system is based on fluorescence, produced by the product of the reaction of hydroperoxides with peroxidase and p-hydroxyphenylacetic acid. Reproducibilities are better than 3% for all hydroperoxides in aqueous concentrations of 1 × 10−7–6 × 10−7 M. Detection limits in aqueous concentration are 1.2 × 10−9 M for hydrogen peroxide, 1.5 × 10−9 M for hydroxymethyl hydroperoxide, 2.9 × 10−9 M for methyl hydroperoxide, 16 × 10−9 M for peroxyaectic acid, and 19 × 10−9 M for ethyl hydroperoxide. Corresponding gas-phase detection limits are 5 PPtv for hydrogen peroxide, 7 pptv for hydroxymethyl hydroperoxide, 13 pptv for methyl hydroperoxide, 72 pptv for peroxyacetic acid, and 84 pptv for ethyl hydroperoxide for an air sample flow rate of two standard liters per minute and collection solution flow rate of 4 × 10−4 L min−1. The gas-phase detection limits for the latter three hydroperoxides vary depending on temperature, pressure, air sample flow rate, and collection solution flow rate. This system was used for several airborne and ground measurements and showed reliable performance
Enhanced Primary Care - A rural perspective
Copyright © 2003 Australian College of General Practitioners Copyright to Australian Family Physician. Reproduced with permission. Permission to reproduce must be sought from the publisher, The Royal Australian College of General Practitioners.BACKGROUND: The Enhanced Primary Care (EPC) program is designed to promote better management of and improved health outcomes for people with chronic illness. Specific Medicare item numbers provide government funding to encourage general practitioners to take up health assessments, care plans and case conferences. AIM: We investigated elements of the EPC program from a rural general practice perspective. METHOD: Questionnaires summarising experience of EPC for patients and health care providers, undertaken over four weeks at three rural general practices, and observation. RESULTS: The EPC program assisted the management and coordination of care for patients with multidisciplinary care needs. General practitioners were generally positive about the EPC program. The main barrier was the extra time required. The main concern of allied health workers was the lack of appropriate remuneration for their participation. Patients were positive in their responses, but many appeared to lack the motivation and self management skills to take full advantage of the program. DISCUSSION: Strategies seeking to increase the uptake of EPC items need to address efficiency and accessibility, and funding for participating health professionals.Philippa Lewis, Angela White, Gary Misan, Peter Harvey, Jerome Connolly, Joe Noon
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
Abstract Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between 'severe' mutations in the gene that encodes the cystic fibrosis transmembrane regulator (CFTR) and pancreatic insufficiency. The relationship between 'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, allergic bronchopulmonary aspergillosis, and possibly even asthma may also be associated with mutations in the CFTR gene, but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences
Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,000 patients in the US have a well-established diagnosis
European principles of care for physiotherapy provision for persons with inherited bleeding disorders: Perspectives of physiotherapists and patients
Introduction: In their Chronic Care Model, the World Health Organisation states that people with chronic disorders and their families should be informed about the expected course, potential complications, and effective strategies to prevent complications and manage symptoms. Physiotherapists are a key professional group involved in the triage, assessment and management of musculoskeletal conditions of persons with a bleeding disorder (PWBD). Nevertheless, recent reports describe access to physiotherapy for those with these conditions is only sometimes available.
Aim: Access to high quality individualised physiotherapy should be ensured for all PWBD, including those with mild and moderate severities, male and female, people with von Willebrand Disease (vWD) and other rare bleeding disorders. Physiotherapy should be viewed as a basic requisite in their multidisciplinary care.
Methods/ results: Following a series of meetings with physiotherapists representing the European Association for Haemophilia and Allied Disorders (EAHAD) and PWBD representing the European Haemophilia Consortium (EHC) and a review of publications in the field, eight core principles of physiotherapy care for persons with a bleeding disorder have been co-produced by EAHAD and EHC.
Conclusion: These eight principles outline optimum standards of practice in order to advocate personalised patient-centred care for physical health in which both prevention and interventions include shared decision making, and supported self-management
Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary functional and ultra-structural defects; newer screening tools such as nasal nitric oxide levels and genetic testing add to the diagnostic algorithm. There are thirty-two known PCD causing genes, and in the future, comprehensive genetic testing may screen young infants prior to developing symptoms thus improving survival. Therapies include surveillance of pulmonary function and microbiology, in addition to airway clearance, antibiotics and ideally, early referral to bronchiectasis centers. As with CF, standardized care at specialized centers using a multidisciplinary approach likely improves outcomes. In conjunction with the CF foundation, the PCD foundation, and with lead investigators and clinicians, is developing a network of PCD clinical centers to coordinate the effort in North America and Europe. As the network grows, care and knowledge will improve
Adapting data collection methods in the Australian life histories and health survey: a retrospective life course study
OBJECTIVE Ideally, life course data are collected prospectively through an ongoing longitudinal study. We report adaptive multimethod fieldwork procedures that gathered life history data by mail survey and telephone interview, comparable with the face-to-face methods employed in the English Longitudinal Study on Ageing (ELSA). DESIGN The Australian Life Histories and Health (LHH) Survey was a substudy of the Australian 45 and Up Study, with data collection methods modified from the ELSA Study. A self-complete questionnaire and life history calendar were completed by the participants, followed by a computer-assisted telephone interview recording key life events. RESULTS The LHH survey developed and tested procedures and instruments that gathered rich life history data within an ongoing Australian longitudinal survey on ageing. Data collection proved to be economical. The use of a self-complete questionnaire in conjunction with a life history calendar and coordinated computer-assisted telephone interview was successful in collecting retrospective life course information, in terms of being thorough, practical and efficient. This study has a diverse collection of data covering the life course, starting with early life experiences and continuing with socioeconomic and health exposures and outcomes during adult life. CONCLUSIONS Mail and telephone methodology can accurately and economically add a life history dimension to an ongoing longitudinal survey. The method is particularly valuable for surveying widely dispersed populations. The results will facilitate understanding of the social determinants of health by gathering data on earlier life exposures as well as comparative data across geographical and societal contexts.Supported by an Australian Research Council Grant (DP 1096778,
“Socio-economic determinants and health inequalities over the life-course:
Australian and English comparisons”) with investigators from the Universities of Sydney, Newcastle and Queensland (Australia) and the University of
Manchester (UK)
- …