Publications by authors named "Alison Mclean"

Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences and the barriers and enablers to reproductive decision-making are poorly understood. The purpose of this study was to explore the opinions and experiences of individuals with NF in Australia and inform the development of practice recommendations and resources. Focus groups with adults with NF were conducted using a semi-structured interview schedule developed by the research team.

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Article Synopsis
  • The Position Statement offers guidelines for health professionals and lab staff involved in predictive genetic testing, focusing on practical, psychosocial, and ethical considerations for different age groups and cognitive abilities.* -
  • It emphasizes the necessity of pretest and post-test genetic counseling to ensure individuals can make informed and autonomous decisions regarding predictive testing.* -
  • Recommendations for children and young people suggest limiting testing to cases with immediate medical benefits and delaying testing for conditions that show symptoms in adulthood until the individual can make their own informed choice.*
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To investigate the extent to which multivessel disease, incomplete revascularisation and prescribing differences contribute to sex-based outcome disparities in patients with ST-elevation MI (STEMI) and establish whether differences in cardiac death and MI (CDMI) rates persist at long-term follow-up. This observational study evaluates sex-based outcome differences (median follow-up 3.6 years; IQR [2.

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Background: Advances in genomics provide improved opportunities for diagnosis of complex neurogenetic disorders, yet the optimal approach to translate these benefits to the outpatient clinic is unclear.

Aims: We retrospectively reviewed referral indications and outcomes of an integrated multidisciplinary team (MDT) clinic pathway for adults with suspected neurogenetic disorders. The associated cost implications were estimated.

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Aims: Pharmaco-invasive percutaneous coronary intervention (PI-PCI) is recommended for patients with ST-elevation myocardial infarction (STEMI)who are unable to undergo timely primary PCI (pPCI). The present study examined late outcomes after PI-PCI (successful reperfusion followed by scheduled PCI or failed reperfusion and rescue PCI)compared with timely and late pPCI (>120 min from first medical contact).

Methods And Results: All patients with STEMI presenting within 12 h of symptom onset, who underwent PCI during their initial hospitalization at Liverpool Hospital (Sydney), from October 2003 to March 2014, were included.

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Importance: Concussions are common among children and youth. To date, the pediatric concussion literature has focused on quantitative reports of the effects of concussion and return-to-activity guidelines. However, the subjective experiences of children and youth returning to occupations postconcussion have largely been ignored.

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Consistent measurement of respectful maternity care (RMC) is lacking. This Delphi study assessed consensus about indicators of RMC. A multidisciplinary panel assessed items ( = 201) drawn from global literature.

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Background: Heterozygous KMT2B variants are a common cause of dystonia. A novel synonymous KMT2B variant, c.5073C>T (p.

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Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.

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Background: In patients with diabetes mellitus presenting with ST elevation myocardial infarction (STEMI) the degree to which cardiac death rates may be attributed to an increased burden of coronary artery disease is not clear.

Methods: This prospective observational study examines rates of cardiac death between those with and without diabetes at long term follow up, stratified by presence of multivessel disease (MVD), in consecutive STEMI patients from 5 Australian hospitals.

Results: Amongst 2083 patients, 393 patients had diabetes (18.

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Objectives: To evaluate the temporal stability and responsiveness of the Montreal Cognitive Assessment (MoCA) in acquired brain injury (ABI).

Research Design And Methods: English-speaking adults with stroke or moderate-to-severe traumatic brain injury were administered alternate forms of the MoCA (version 1, then 2), 6 weeks apart. Chronic group participants (n = 40) were community-dwelling, at least 1 year post-ABI (mean = 12.

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An increasing number of private clinics in Australia are marketing and providing autologous stem cell therapies to patients. Although advocates point to the importance of medical innovation and the primacy of patient choice, these arguments are unconvincing. First, it is a stark truth that these clinics are flourishing while the efficacy and safety of autologous stem cell therapies, outside of established indications for hematopioetic stem cell transplantation, are yet to be shown.

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Private stem cell clinics throughout Australia are providing autologous stem cell therapies for a range of chronic and debilitating illnesses despite the lack of published literature to support the clinical application of these therapies. The Therapeutic Goods Administration has excluded autologous stem cell therapies from its regulatory domain leaving such therapies to be regulated by the same mechanisms that regulate research, such as the National Health and Medical Research Council Research Ethics Guidelines, and clinical practice, such as the Australian Health Practitioner Regulation Agency. However, the provision of these stem cell therapies does not follow the established pathways for legitimate medical advance--therapeutic innovation or research.

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Purpose: To examine the association between social participation and subjective quality of life (SQOL) for non-employed, community-dwelling adults with moderate to severe traumatic brain injury (TBI) at 1 year or greater post-injury.

Method: A correlational study was conducted involving 46 participants. Social participation was measured using the Community Integration Questionnaire, Social Provisions Scale and the Adult Subjective Assessment of Participation.

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Objectives: The present UK criterion standard for assessing children with suspected inflammatory bowel disease (IBD) is upper endoscopy, ileocolonoscopy, and barium follow-through (BaFT). Significant doses of radiation, unpalatable contrast, and volume intolerance are involved with BaFT. Practice in investigating Crohn disease (CD) is changing with the increasing use of magnetic resonance imaging (MRI).

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Studies of connectivity of natural populations are often conducted at different timescales. Studies that focus on contemporary timescales ask questions about dispersal abilities and dispersal behavior of their study species. In contrast, studies conducted at historical timescales are usually more focused on evolutionary or biogeographic questions.

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Positive sense single-stranded RNA viruses undergo three mutually exclusive processes to replicate within a cell. These are translation to produce proteins, replication to produce RNA viral genomes, and packaging to form virions. The allocation of newly synthesised viral genomes to these processes, which can be regarded as life-history traits, may be subject to natural selection for efficient reproduction.

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The role of endoscopic ultrasound (EUS) in the detection of pancreatic islet cell tumours is reviewed. Functioning islet cell tumours are frequently small at presentation (90%< 2 cm). Advances in cross-sectional imaging with CT and MRI have resulted in improved detection rates of these small lesions.

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The rat muscarinic acetylcholine receptor subtype 3 was modified by swapping the third intracellular loop with the corresponding region of a constitutively active mutant human beta2-adrenergic receptor and attaching Renilla reniformis luciferase to its C terminus. The chimeric fusion receptor displayed constitutive Gq- and Gs-coupled activity as demonstrated in nuclear factor of activated T cell and cAMP response element reporter gene assays. The chimeric receptor displayed a pharmacological binding profile comparable with that of the wild-type receptor for agonists, antagonists, and inverse agonists but showed a large decrease in expression in both human embryonic kidney 293 and COS-7 cells.

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Background: Comprehensive and accurate evaluation is a critical step in the return-to-work process for individuals with head injury. Research findings have been reported on the barriers for a successful return to work. Assessment frameworks have been published, but they do not include a protocol that contains each component for the assessment.

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Catecholamines signal through the beta2-adrenergic receptor by promoting production of the second messenger adenosine 3',5'-monophosphate (cAMP). The magnitude of this signal is restricted by desensitization of the receptors through their binding to beta-arrestins and by cAMP degradation by phosphodiesterase (PDE) enzymes. We show that beta-arrestins coordinate both processes by recruiting PDEs to activated beta2-adrenergic receptors in the plasma membrane of mammalian cells.

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