Variable phenotype in 16p duplication within a family

Background More individuals are now being identified with very rare genetic syndromes. We present a family with an inherited duplication of 16p11.2 to 16q12.1 in ring formation. Three of the four children, (aged 15 months to 10 years), mother, uncle, and grandmother are affected. Our aim was to provide preliminary evidence of possible phenotypic patterns of learning and behaviour associated with this chromosome anomaly. Method Psychometric assessments were undertaken with all four children. The mother and uncle also agreed to participate in the study. Measures of development (Bayley or Mullen), intellectual ability (WISC-IV or WAIS-III), academic achievement (WIAT-II), adaptive behaviour (Vinelands), and other relevant aspects of functioning (e.g., Children’s Memory Scale) were administered. Results. The first-born child is the only one who is unaffected. Her intellectual ability was assessed as being within the superior range. The second child experienced early difficulties with speech and motor skills. Although his intelligence is average, he has learning difficulties and significant auditory memory problems. The third child’s speech and motor milestones were markedly delayed. He has a complex medical history that includes a vitamin B12 deficiency. On the Mullen Scales at age 4 his scores ranged from average to very low. The development of the youngest child (aged 15 months), who also had a B12 deficiency but was treated early, was assessed as being within typical limits. Conclusions There is considerable developmental variability among the three children with this inherited 16p duplication. We discuss the intriguing similarities and differences, considering common features that may reflect phenotypic patterns and speculating about possible explanations for the variable presentations.

Making the transition from pharmacy student to pharmacist: Australian interns' perceptions of professional identity formation

Objectives The experience of transitioning from university to practice influences professional identity formation. It is unclear how this transitioning experience influences pharmacy interns' professional identities. This study aims to examine pharmacy interns' perceptions of their transition from university to the workplace and the influence this had on their pharmacist identities. Methods A qualitative approach using in-depth interviews was adopted for this study. Fifteen interns (community and hospital) from one school of pharmacy in Australia were interviewed. Questions were asked about the nature of their current intern role, their university experiences, how they saw themselves as pharmacists and their perceptions of the transition to practice. Key findings The interns interviewed entered the workplace valuing patient-focused aspects of practice and contributing to patient care. The nature of work meant there were limited opportunities to enact these aspects of their professional identities. The interns were challenged by interactions with patients and doctors, and experienced difficulties reconciling this with their university-derived professional identities. Also, the interns lacked the confidence and strategies to overcome these challenges. Some were exploring alternative ways of being pharmacists. Conclusions This paper argues that graduates' experience of the transition to practice was challenging. This was due to nascent professional identities formed in university and a lack of workplace experiences enabling patient-centred practices. The interns' formation of professional identities was highly responsive to the context of work. To facilitate the development of Australian patient-centred pharmacy practice, supporting professional identity formation should be a focus within pharmacy education.

Using the TARL Model in Psychology: Supporting First and Final Year Students to Compose Reflections

Reflective thinking is an important skill in psychology, both as a tool in the therapeutic process and in professional development. The adapted 4Rs Model provides reflective writing structure and highlights the importance of Reporting & Responding, Relating, Reasoning and Reconstructing to students who are new to writing reflections. This chapter presents a case in which the 4Rs model (modified from the 5Rs model in Chap. 2 of this edition) was adopted to support reflective writing skills of undergraduate psychology students in a first year unit and in a final year unit. Although all students reflected on their learning within the units, the support activities leading up to the reflective tasks were adjusted to account for differences in the abilities of the cohorts and the focus of the units. In an evaluation survey, both groups of students endorsed statements about the importance of reflections and the utility of using the model. First year students also reported some difficulties understanding the 4Rs. This chapter will explore how first and final year students can be supported to develop reflection skills through scaffolding and modification of the same approaches and model.

Driving simulator evaluation of the failure of an audio in-vehicle warning for railway level crossings

It is impracticable to upgrade the 18,900 Australian passive crossings as such crossings are often located in remote areas, where power is lacking and with low road and rail traffic. The rail industry is interested in developing innovative in-vehicle technology interventions to warn motorists of approaching trains directly in their vehicles. The objective of this study was therefore to evaluate the benefits of the introduction of such technology. We evaluated the changes in driver performance once the technology is enabled and functioning correctly, as well as the effects of an unsafe failure of the technology? We conducted a driving simulator study where participants (N=15) were familiarised with an in-vehicle audio warning for an extended period. After being familiarised with the system, the technology started failing, and we tested the reaction of drivers with a train approaching. This study has shown that with the traditional passive crossings with RX2 signage, the majority of drivers complied (70%) and looked for trains on both sides of the rail track. With the introduction of the in-vehicle audio message, drivers did not approach crossings faster, did not reduce their safety margins and did not reduce their gaze towards the rail tracks. However participants’ compliance at the stop sign decreased by 16.5% with the technology installed in the vehicle. The effect of the failure of the in-vehicle audio warning technology showed that most participants did not experience difficulties in detecting the approaching train even though they did not receive any warning message. This showed that participants were still actively looking for trains with the system in their vehicle. However, two participants did not stop and one decided to beat the train when they did not receive the audio message, suggesting potential human factors issues to be considered with such technology.

Psychosocial functioning in patients with alcohol-related liver disease post liver transplantation

Emotional and role functioning difficulties are associated with chronic alcohol use and liver disease. Little is known about prospective changes in psychological and psychosocial functioning following orthotopic liver transplantation (OLT) amongst patients with alcoholic liver disease (ALD). We aimed to assess the functioning of this patient group post liver transplantation. Comprehensive psychosocial assessment of depression (Beck Depression Inventory [BDI]), anxiety (State-Trait Anxiety Inventory-Form X [STAI]) and psychosocial adjustment (Psychosocial Adjustment to Illness Scale-Self-Report version [PAIS-SR]) was conducted with 42 ALD patients available for pre and post OLT testing. Dependence severity was assessed by the Brief Michigan Alcoholism Screening Test (bMAST). Significant reductions in average anxiety and depression symptoms were observed 12-months post-OLT. Significant improvements in psychosocial adjustment to illness were also reported. Patients with higher levels of alcohol dependence severity pre transplant assessment improved comparably to those with lower levels of dependence. In summary, the study found that OLT contributed to reducing overall levels of mood and anxiety symptoms in ALD patients, approximating general (non-clinical) population norms. Psychosocial adjustment also improved significantly post liver transplantation.

Psychological services for asylum seekers in the community: Challenges and solutions

Objective: Given the Australian government’s current policy of placing asylum seekers into the community while their applications for asylum are being considered, it is important that mental health practitioners are able to offer culturally safe, sensitive, and competent services in this context. Method: A qualitative approach was used to interview seven practitioners, who provided services to asylum seekers at a specialist health clinic in the community. These professionals used their experience to identify the psychosocial issues faced by these asylum seekers, the challenges of providing culturally effective services to this group, and how these services can be improved. Result: Data were thematically analysed using NVivo. The findings indicated that participants perceived that clients experienced psychological, health, and cultural difficulties. The stress and uncertainty around visa applications emerged as the most severe factor impacting asylum seekers’ mental health. Working effectively with interpreters and culturally adapting assessment and treatment for these clients emerged as effective strategies. Gathering information in a conversational way and using clients’ different cultural explanatory models were methods used to identify and address mental health issues, rather than using formal measures. Interventions were eclectic and holistic, and reflected treatments that were appropriate for the clients’ cultural backgrounds. Conclusion: The study has implications for how psychological services are offered to asylum seekers in the community. Further, it identifies areas that can be incorporated in the future training of practitioners.

Non-destructive structural integrity assessment of a decommissioned rail wagon system

This paper presents a multi-criteria based approach for nondestructive diagnostic structural integrity assessment of a decommissioned flatbed rail wagon (FBRW) used for road bridge superstructure rehabilitation and replacement applications. First, full-scale vibration and static test data sets are employed in a FE model of the FBRW to obtain the best ‘initial’ estimate of the model parameters. Second, the ‘final’ model parameters are predicted using sensitivity-based perturbation analysis without significant difficulties encountered. Consequently, the updated FBRW model is validated using the independent sets of full-scale laboratory static test data. Finally, the updated and validated FE model of the FBRW is used for structural integrity assessment of a single lane FBRW bridge subjected to the Australian bridge design traffic load.

A study protocol: A community pharmacy-based intervention for improving the management of sleep disorders in the community settings

Background Sleep disorders are very common in the community and are estimated to affect up to 45% of the world’s population. Pharmacists are in a position to give advice and provide appropriate services to individuals who are unable to easily access medical care. The purpose of this study is to develop an intervention to improve the management of sleep disorders in the community. The aims are: (1) to evaluate the effectiveness of a community pharmacy-based intervention in managing sleep disorders; (2) to evaluate the role of actigraph as an objective measure in monitoring certain sleep disorders, and; (3) to evaluate the extended role of community pharmacists in managing sleep disorders. This intervention is developed to monitor individuals undergoing treatment and overcome the difficulties in validating self-reported feedback. Method/design This is a community-based intervention, prospective, controlled trial, with one intervention group and one control group, comparing individuals receiving a structured intervention with those receiving usual care for sleep-related disorders at community pharmacies. Discussion This study will demonstrate the utilisation and efficacy of community pharmacy-based intervention to manage sleep disorders in the community, and will assess the possibility of implementing this intervention into the community pharmacy workflow.

Privacy, modesty, hospitality and the design of Muslim homes in Australia

The home environment is conceptualised in prolific ways within the academic literature. A home is an unparalleled base for human settlement and habitation that embodies a sensorial space that is layered with personal memories and traces of history. The success of a home in providing a strong ‘sense of place’ depends on various factors such as geographical location, monetary funds or personal perceptions. A home too, is an influential medium that allows its dwellers to express, perform and continue their cultural traditions and religious faiths. Traditional Islamic teachings and practices involve guidelines that apply directly to the domestic space. The principles of privacy, modesty and hospitality are paramount to these guidelines and each has a significant influence upon the design of Muslim homes and the home owners’ or dwellers’ domestic behaviours. Despite a significant increase of Muslim population in Australia over the last decade, very little is known about their perceptions of domestic life and their use of domestic spaces within an Australian context. This research investigated on how Muslims in Brisbane live and adapt within their Australian homes and if these homes meet their personal and familial needs to perform their daily activities, as well as maintaining and practising their Islamic faiths and traditions. Specific attention has been given to their perceptions on tripartite principles of privacy, modesty, and hospitality (PMH) and how they achieve these three objectives. A qualitative case study approach was used to investigate six Muslim families living in four Brisbane suburbs, consisting of: a) Case Study 1: three Muslim families residing in one suburb of Brisbane and, b) Case Study 2: three international Muslim students living in three different Brisbane suburbs. This research indicates that apart from minor ‘design-related’ difficulties, case study participants were able to continue to perform their daily activities within their current homes through minor changes to the use of the available interior spaces. Above all, case study participants opined that their current Australian homes provide them with adequate safety and privacy for their families without any major disturbances. Insight gained from these cases suggests that greater research attention needs to be given to the potential development of Australian home designs that are adaptable to the ever-changing needs of the Australian multicultural society. Awareness of the multifactorial nature of the influences on Muslims’ perceptions of home and their use of domestic space is needed if architects, building designers, engineers and builders are to be properly equipped to meet the needs of their Muslim clients.

Stress during the rebuilding phase influenced mental health following two Queensland flood disasters more than the event itself

It has long been known that disasters can have mental health consequences such as increased rates of PTSD, depression and anxiety. While some research has shown that secondary stressors during the aftermath of a disaster can influence psychological outcomes, this aspect of the disaster experience has not been widely studied. This paper reports on two studies that investigated which aspects of the experience of being flooded were most predictive of mental health outcomes. The first study was a qualitative study of adults whose homes had been inundated in the Mackay flood of 2008 (n=16). Thematic analysis of interviews conducted 18-20 months post-flood found that stressors during the flood aftermath such as difficulties and delays during the rebuilding process and a difficult experience with an insurance company were nominated as the most stressful aspect of the flood by the majority of participants. The second study surveyed Mackay flood survivors three and a half years post-flood, and Brisbane 2011 flood survivors 7-9 months post-flood (n=158). Findings indicated aftermath stress contributed to mental health outcomes over and above the contribution of perceived trauma, objective flood severity, prior mental health, self-efficacy and demographic factors. The implications of these results for the provision of community recovery services following natural disasters are discussed, including the need to provide effective targeting of support services throughout the lengthy rebuilding phase; a possible role for co-ordinating tradespeople; and training for insurance company staff aimed at minimising the incidence of insurance company staff inadvertently adding to disaster victims’ stress.

Cross-border malaria: a major obstacle for malaria elimination

Movement of malaria across international borders poses a major obstacle to achieving malaria elimination in the 34 countries that have committed to this goal. In border areas, malaria prevalence is often higher than in other areas due to lower access to health services, treatment-seeking behaviour of marginalised populations that typically inhabit border areas, difficulties in deploying prevention programs to hard-to-reach communities, often in difficult terrain, and constant movement of people across porous national boundaries. Malaria elimination in border areas will be challenging, and key to addressing the challenges is strengthening of surveillance activities for rapid identification of any importation or reintroduction of malaria. This could involve taking advantage of technological advances, such as spatial decision support systems, which can be deployed to assist program managers to carry out preventive and reactive measures, and mobile phone technology, which can be used to capture the movement of people in the border areas and likely sources of malaria importation. Additionally, joint collaboration in the prevention and control of cross-border malaria by neighbouring countries, and reinforcement of early diagnosis and prompt treatment are ways forward in addressing the problem of cross-border malaria.

What is Statutory Interpretation? A Primer QUT law students

In this Primer, our aims are to explain what statutory interpretation is and why it is important. We also aim to note some of the more difficult concepts and ideas you will need to understand when reading a statute, when deciding if it is relevant to a legal problem, and, if so, how it applies to that problem. We do not aim to provide an overview of the rules of Statutory Interpretation, but only to focus on areas that have created well-known difficulties for students and practitioners alike, such as the concept of the intentions of Parliament and the correct use of intrinsic materials.

Inability to swallow tablets is common and cause for concern

We naturally chew food before swallowing, but tablets and capsules require a complicated, conscious mechanism to over-ride the need to chew and the gag reflex, designed to eject foodstuffs that are not adequately chewed...

Inappropriate formulation choices in the administration of medication to elderly patients with dysphagia in nursing homes

Inappropriate food or medication texture in patients with dysphagia is the most significant risk factor for pneumonia. Dysphagia is prevalent within care homes for the older person as it is largely found in conditions associated with ageing. This study was designed to determine the appropriateness of medication formulation choices in elderly patients with dysphagia in care homes.

Nurses’ views on the implementation of Individualised Medication Administration Guides in patients with dysphagia in care homes

As conditions such as stroke, cancer, Parkinson's disease and Huntingdon's chorea are commonly found in care homes between 15% and 30% of residents in care homes have been found to have difficulties in swallowing their medicines.To address the difficulties associated with administering medicines to patients who cannot swallow (with dysphagia), Individualised Medication Administration Guides (I-MAGs) were introduced by a specialised pharmacist in Care for Elderly wards in a general hospital in East Anglia. The guides contained detailed information about how to administer each medication and they were individualised to the needs of the patient. The I-MAGs were printed in green forms and attached to the medication chart in order to be used in conjunction with it. The ward nurses reported an increase in their confidence when administering medication when I-MAGs were present in the ward. Some patients with I-MAG were discharged to care homes where the I-MAG might have been equally useful. However, the design of such guides is not known to be suitable for care homes environment where they have never been used before. This study aims to explore the opinions of nurses and carers within care homes on the relevance and acceptability of individualised medication administration guides for patients with dysphagia (PWD).