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Biomedical subjects

Claire L Jackson

Publications and source records attributed to Claire L Jackson.

7 recordsLinked to original sources
PubMed2023

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

BACKGROUND: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. METHODS: Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV1) Global Lung Index z-scores and body mass index z-scores. RESULTS: 68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. 45 individuals from 40 families had 17 clinically actionable variants and four had variants of unknown significance in 14 PCD genes. CCDC39, DNAH11 and DNAAF11 were the most commonly mutated genes. 100% of variants were homozygous. Patients had a median age of 10.0 years at diagnosis, were highly consanguineous (93%) and 100% were of Arabic descent. Clinical features included persistent wet cough (99%), neonatal respiratory distress (84%) and situs inversus (43%). Lung function at diagnosis was already impaired (FEV1 z-score median -1.90 (-5.0-1.32)) and growth was mostly within the normal range (z-score mean -0.36 (-3.03-2.57). 19% individuals had finger clubbing. CONCLUSIONS: Despite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.

Journal Article↗
PubMed2006

General practice in Australia 2020: "robust and ready" or "rudderless and reeling"?

The future role and structure of Australian general practice remains uncertain, despite a decade of seemingly constant change following the release of the National Health Strategy papers. Some of the suggested change strategies (such as rural Practice Incentive Payments and practice accreditation) have been implemented; others (such as general practitioner involvement with area health authorities in delivering national goals and targets for communities) still await attention. An overarching vision for our health care system in 2020 and general practice's role within it are still to be clearly enunciated. Australia is at variance with other Western countries, such as the United Kingdom, Canada and New Zealand, which have spent significant time refocusing their health systems to deal with an ageing population with an increased burden of chronic disease. Health bureaucrats and governments need to invest strategically in operational primary care now. This will require the active commitment of general practice's national bodies to articulate and actively promote a shared vision for Australian general practice.

Australia↗
PubMed2006

Online referral and OPD booking from the GP desktop.

The Brisbane Inner South E-referral Project (BISEP) developed an application which allowed general practitioners, from their desktop, to successfully search for and book an available hospital outpatient appointment for patients with suspected cancer, send the referral electronically, and inform the patient of both the appointment and referral during the consultation. The hospital changed their outpatient department processes to allow such functionality for local GPs with patients with suspected cancer, working from a mutually agreed set of best practice referral criteria. A group of 19 GPs participated in an 11-week pilot implementation of the application, and were enthusiastic about continuing and expanding the approach. Patient satisfaction measures post intervention indicated that they perceived no major disadvantage in this form of outpatient department referral.

Appointments and Schedules↗
PubMed2005

Alpha-melanocyte-stimulating hormone suppresses antigen-induced lymphocyte proliferation in humans independently of melanocortin 1 receptor gene status.

Studies in mice indicate that alpha-melanocyte-stimulating hormone (alphaMSH) is immunosuppressive, but it is not known whether alphaMSH suppresses human immune responses to exogenous Ags. Human PBMCs, including monocytes, express the melanocortin 1 receptor (MC1R), and it is thought that the ability of alphaMSH to alter monocyte-costimulatory molecule expression and IL-10 release is mediated by this receptor. However, the MC1R gene is polymorphic, and certain MC1R variants compromise receptor signaling via cAMP, resulting in red hair and fair skin. Here, we have investigated whether alphaMSH can suppress Ag-induced lymphocyte proliferation in humans and whether these effects are dependent on MC1R genotype. alphaMSH suppressed streptokinase-streptodornase-induced lymphocyte proliferation, with maximal inhibition at 10(-13)-10(-11) M alphaMSH. Anti-IL-10 Abs failed to prevent suppression by alphaMSH, indicating that it was not due to MC1R-mediated IL-10 release by monocytes. Despite variability in the degree of suppression between subjects, similar degrees of alphaMSH-induced immunosuppression were seen in individuals with wild-type, heterozygous variant, and homozygous/compound heterozygous variant MC1R alleles. RT-PCR of streptokinase-streptodornase-stimulated PBMCs for all five melanocortin receptors demonstrated MC1R expression by monocytes/macrophages, MC1R and MC3R expression by B lymphocytes, but no melanocortin receptor expression by T lymphocytes. In addition, alphaMSH did not significantly inhibit anti-CD3 Ab-induced lymphocyte proliferation, whereas alphaMSH and related analogs (SHU9119 and MTII) inhibited Ag-induced lymphocyte proliferation in monocyte-depleted and B lymphocyte-depleted assays. These findings demonstrate that alphaMSH, acting probably via MC1R on monocytes and B lymphocytes, and possibly also via MC3R on B lymphocytes, has immunosuppressive effects in humans but that suppression of Ag-induced lymphocyte proliferation by alphaMSH is independent of MC1R gene status.

Animals↗
PubMed2004

Randomised controlled trial of health assessments for older Australian veterans and war widows.

OBJECTIVE: To assess the effect of home-based health assessments for older Australians on health-related quality of life, hospital and nursing home admissions, and death. DESIGN: Randomised controlled trial of the effect of health assessments over 3 years. PARTICIPANTS AND SETTING: 1569 community-living veterans and war widows receiving full benefits from the Department of Veterans' Affairs and aged 70 years or over were randomly selected in 1997 from 10 regions of New South Wales and Queensland and randomly allocated to receive either usual care (n = 627) or health assessments (n = 942). INTERVENTION: Annual or 6-monthly home-based health assessments by health professionals, with telephone follow-up, and written report to a nominated general practitioner. MAIN OUTCOME MEASURES: Differences in health-related quality of life, admission to hospital and nursing home, and death over 3 years of follow-up. RESULTS: 3-year follow-up interviews were conducted for 1031 participants. Intervention-group participants who remained in the study reported higher quality of life than control-group participants (difference in Physical Component Summary score, 0.90; 95% CI, 0.05-1.76; difference in Mental Component Summary score, 1.36; 95% CI, 0.40-2.32). There was no significant difference in the probability of hospital admission or death between intervention and control groups over the study period. Significantly more participants in the intervention group were admitted to nursing homes compared with the control group (30 v 7; P < 0.01). CONCLUSIONS: Health assessments for older people may have small positive effects on quality of life for those who remain resident in the community, but do not prevent deaths. Assessments may increase the probability of nursing-home placement.

Aged↗
PubMed2002

Can Australian general practitioners effectively screen for diabetic retinopathy? A pilot study.

BACKGROUND: Diabetes has been identified as one of the national health priority areas in Australia. After 20 years of diabetes most patients can be expected to develop diabetic retinopathy which, if undetected, is likely to cause significant visual loss or blindness. This paper reports on a pilot study aimed to test the ability of Australian GPs to clinically recognise diabetic retinopathy following a brief training intervention. METHOD: 17 GPs from a Brisbane Division of General Practice were recruited to participate in a clinical upskilling intervention pilot. Participant scores on clinical assessments were used to analyse GP sensitivity and specificity in screening for diabetic retinopathy. Results were compared with the NHMRC guidelines for acceptable screening accuracy. RESULTS: Ten of the 17 GPs (59%) achieved a screening sensitivity of 25% or less in the pre test, three (18%) a sensitivity of 50%, and four (23%) achieved a sensitivity of >or= 75%. In the post-test, all seventeen GPs achieved between 50 and 100% sensitivity. In the pre-test, thirteen (76%) GPs achieved a screening specificity of less than or equal to 50%, and four (23%) a specificity of 75 %. In the post test, four GPs (23%) rated a screening specificity of less than 50%, six (35%) achieved a specificity of 66%, and seven (41%) 100% specificity. CONCLUSION: 24% of GPs met the NHMRC diabetic retinopathy screening criterion prior to the workshop, and 94% following this brief training intervention. Australian GPs are capable of a much more significant role in community screening for diabetic retinopathy.

Australia↗