16 research outputs found
Household Responses to Pandemic (H1N1) 2009–related School Closures, Perth, Western Australia
Results from closures will determine the appropriateness and efficacy of this mitigation measure
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria)
Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of a combination of tests to confirm a diagnosis. However, there is no definition of what constitutes a defect or consensus on reporting terminology. The aim of this project was to provide an internationally agreed ultrastructural classification for PCD diagnosis by TEM. A consensus guideline was developed by PCD electron microscopy experts representing 18 centres in 14 countries. An initial meeting and discussion were followed by a Delphi consensus process. The agreed guideline was then tested, modified and retested through exchange of samples and electron micrographs between the 18 diagnostic centres. The final guideline a) Provides agreed terminology and a definition of class 1 defects which are diagnostic for PCD; b) Identifies class 2 defects which can indicate a diagnosis of PCD in combination with other supporting evidence; c) Describes features which should be included in a ciliary ultrastructure report to assist multidisciplinary diagnosis of PCD d) Defines adequacy of a diagnostic sample. This tested and externally validated statement provides a clear guideline for the diagnosis of PCD by TEM which can be used to standardise diagnosis internationally.</p
Comparison of Pandemic (H1N1) 2009 and Seasonal Influenza, Western Australia, 2009
TOC summary: Infections were similar in terms of symptoms, risk factors, and proportion of patients hospitalized
Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia and sperm dysmotility. About 12% of cases show perturbed 9+2 microtubule cilia structure and inner dynein arm (IDA) loss, historically termed ‘radial spoke defect’. We sequenced CCDC39 and CCDC40 in 54 ‘radial spoke defect’ families, as these are the two genes identified so far to cause this defect. We discovered biallelic mutations in a remarkable 69% (37/54) of families, including identification of 25 (19 novel) mutant alleles (12 in CCDC39 and 13 in CCDC40). All the mutations were nonsense, splice and frameshift predicting early protein truncation, which suggests this defect is caused by ‘null’ alleles conferring complete protein loss. Most families (73%; 27/37) had homozygous mutations, including families from outbred populations. A major putative hotspot mutation was identified, CCDC40 c.248delC, as well as several other possible hotspot mutations. Together, these findings highlight the key role of CCDC39 and CCDC40 in PCD with axonemal disorganisation and IDA loss, and these genes represent major candidates for genetic testing in families affected by this ciliary phenotype. We show that radial spoke structures are largely intact in these patients and propose this ciliary ultrastructural abnormality be referred to as ‘IDA and nexin-dynein regulatory complex (N-DRC) defect’, rather than ‘radial spoke defect’
Resending a consent form and information package to non-responders increases school-based consent return rate
Since 2007, the Australian immunisation schedule has included adolescent vaccinations for human papilloma virus (females), diphtheria, hepatitis B, pertussis, tetanus, and varicella-zoster year.1 In Western Australian (WA) these vaccinations are offered via a year seven, school-based vaccination program.
Written consent is a pre-requisite for vaccination. Strategies undertaken to improve consent form return (termed return rate) include verbal reminders to the student and/or parent, giving another vaccination information and consent package to the student and/or their parent, and sending a written reminder to parents of students who had not returned a consent form. Class incentives have been used to increase return rate,2 but had not been tried in WA. We aimed to investigate the effectiveness of these strategies on return rate
Comparison of pandemic (HIN1) 2009 and seasonal influenza, Western Australia, 2009
We compared confirmed pandemic (HIN1) 2009 influenza and seasonal influenza diagnosed in Western Australia during the 2009 influenza season. From 3,178 eligible reports, 984 pandemic and 356 seasonal influenza patients were selected; 871 (88.5%) and 288 (80.9%) were interviewed, respectively. Patients in both groups reported a median of 6 of 11 symptoms; the difference between groups in the proportion reporting any given symptom was ≤10%. Fewer than half the patients in both groups had ≥1 underlying condition, and only diabetes was associated with pandemic (H1N1 2009 influenza (odds ratio [OR] 1.9, 95% confidence interval [CI] 1.1-3.5). A total of 129 (14.8%) persons with pandemic (HIN1) 2009 and 36 (12.5%) persons with seasonal influenza were hospitalized (p = 0.22). After controlling for age, we found that patient hospitalization was associated with pandemic (H1N1) 2009 influenza (OR 1.5; 95% CI 1.1-2.1). Contemporaneous pandemic and seasonal influenza infections were substantially similar in terms of patients\u27 symptoms, risk factors, and proportion hospitalized
Chronic disease and hospitalisation for pandemic (H1N1) 2009 influenza in indigenous and non-indigenous Western Australians
Indigenous and non-Indigenous Western Australians with pandemic (H1N1) 2009 influenza (pH1N1) infection were compared for risk factors, influenza vaccination history, symptoms, use of antiviral medications, and hospitalisation. Data were collected systematically on 856 notified cases with laboratory confirmed pH1N1 infection during the first 10 weeks of pH1N1 virus transmission in Western Australia in 2009. Indigenous people with pH1N1 were approximately 3 times more likely to be hospitalised and were more likely to have a range of underlying medical conditions and be smokers, compared with non-Indigenous cases. Age (P \u3c 0.001) and the presence of two or more co-morbidities (P \u3c 0.001) were independent predictors of hospitalisation, while Indigenous status was not, indicating that higher pH1N1 hospitalisation rates in Indigenous Australians during the 2009 winter season were attributable to the higher prevalence of underlying chronic disease. These results underscore the need to ensure that influenza vaccination is delivered as widely as possible among those with chronic health conditions