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.

Leaving family behind: Understanding the irregular migration of unaccompanied asylum-seeking minors - A qualitative study

This qualitative study investigated the drivers and determinants of irregular maritime migration among 17 protection visa holders who arrived in Australia as unaccompanied asylum-seeking minors. Semi-structured interviews were also conducted with eight non-government service providers working with unaccompanied minors in the Greater Brisbane area.

Randomized controlled trial of an improved version of MobileMums, an intervention for increasing physical activity in women with young children

Background Women with young children (<5 years) are an important group for physical activity intervention. Purpose To evaluate the feasibility, acceptability and efficacy of MobileMums- a physical activity intervention for women with young children. Methods Women were randomized to MobileMums (n=133) or a control group (n=130). MobileMums was delivered primarily via individually-tailored text messages. Moderate to vigorous physical activity (MVPA) was measured by self-report and accelerometer at baseline, end of the intervention (13-weeks) and 6-months later (9-months). Changes were analyzed using repeated measures models. Results MobileMums was feasible to deliver and acceptable to women. Self-reported MVPA duration (minutes/week) and frequency (days/week) increased significantly post intervention (13-week intervention effect 48.5 min/week, 95%CI [13.4, 82.9] and 1.6 days/week, 95%CI [0.6, 2.6]). Intervention effects were not maintained 6-months later. No effects observed in accelerometer-derived MVPA. Conclusions MobileMums increased women’s self-reported MVPA immediately post intervention. Future investigations need to target sustained physical activity improvements.

A randomised controlled trial evaluating outcomes of emergency nurse practitioner service

The emergency nurse practitioner role was developed as an innovative and cost effective approach to meet increasing patient demand for health care. This thesis is the first contemporary study to evaluate clinical outcomes of the role within a complex systems-intervention framework. Emergency nurse practitioner service effectiveness was demonstrated through superior performance in delivery of timely analgesia for emergency department patients. The results validate nurse practitioner service as being able to demonstrate comparable outcomes. This research provides a much-needed evidence base supporting nurse practitioner service and its role in the changing health system and the reform agenda for service innovation.

Children who are homeless with their family: A literature review

This literature review was commissioned by the Commissioner for Children and Young People Western Australia to provide an overview of the issues affecting the wellbeing of children who are homeless with their families. This review outlines the scholarly evidence in relation to the following issues. • The causes and extent of children’s homelessness in Western Australia (and Australia), including pathways leading to family homelessness; • The impact of homelessness on children’s near-term and long-term wellbeing; • The service and support needs of children and families at risk of or experiencing homelessness; • Strategic approaches and systems for providing services to children and families; • Successful programs that are evidence-based and have been evaluated to show positive effects on children’s wellbeing (particularly programs replicated in multiple jurisdictions or applied across diverse population groups); • Children’s own views and experiences of homelessness and support services (particularly direct consultations with children), and; • Gaps in knowledge.

Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis

Objective: To follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease. Design Case-control study. Setting Academic research. Subject(s) The cases comprised 2,271 women with surgically confirmed endometriosis; the controls comprised 939 women with self-report of no endometriosis and 1,770 unscreened population samples. Intervention(s) Sequencing of the CYP2C19 region and follow-up of 80 single nucleotide polymorphisms (SNPs) in two case-control samples. Main Outcome Measure(s) Allele frequency differences between cases and controls. Result(s) Sequencing of the CYP2C19 gene region resulted in the detection of a large number of known and novel SNPs. Genotyping of 80 polymorphic SNPs in 901 endometriosis cases and 939 controls resulted in study-wide significant association signals for SNPs in moderate or complete linkage disequilibrium with rs4244285, a functional SNP in exon 5 that abrogates CYP2C19 function through the creation of an alternative splice site. Evidence of association was also detected for another functional SNP in the CYP2C19 promoter, rs12248560, which was highlighted in our previous study. Conclusion(s) Functional variants in CYP2C19 may contribute to endometriosis susceptibility in both familial and sporadic cases. © 2014 by American Society for Reproductive Medicine.

Continuity and change in family engagement in home learning activities across the early years

This research utilised data from The Longitudinal Study of Australian Children and explored continuity and change in parental engagement in home learning activities with young children. The findings indicated a decrease over time in parental engagement with children, from age to 2-3 years to 6-7 years. Rate of decrease impacted negatively on learning outcomes for language and literacy, and mathematical thinking, in the early years of school, when children were aged 6-7 years. Shared reading with children and interactions around everyday home activities and play, in which children and parents participate together, impact on children's later development.

The effects of parental illness and other ill family members on the adjustment of children

Background This study addresses limitations of prior research that have used group comparison designs to test the effects of parental illness on youth. Purpose This study examined differences in adjustment between children of a parent with illness and peers from ‘healthy’ families controlling for the effects of whether a parent or non-parent family member is ill, illness type, demographics and caregiving. Methods Based on questionnaire data, groups were derived from a community sample of 2,474 youth (‘healthy’ family, n = 1768; parental illness, n = 336; other family member illness, n = 254; both parental and other family illness, n = 116). Results The presence of any family member with an illness is associated with greater risk of mental health difficulties for youth relative to peers from healthy families. This risk is elevated if the ill family member is a parent and has mental illness or substance misuse. Conclusions Serious health problems within a household adversely impact youth adjustment.

Evaluating emergency nurse practitioner service effectiveness on achieving timely analgesia: A pragmatic randomized controlled trial

Objectives The rapid uptake of nurse practitioner (NP) services in Australia has outpaced evaluation of this service model. A randomized controlled trial was conducted to compare the effectiveness of NP service versus standard medical care in the emergency department (ED) of a major referral hospital in Australia. Methods Patients presenting with pain were randomly assigned to receive either standard ED medical care or NP care. Primary investigators were blinded to treatment allocation for data analyses. The primary outcome measure was the proportion of patients receiving analgesia within 30 minutes from being seen by care group. Secondary outcome measures were time to analgesia from presentation and documentation of and changes in pain scores. Results There were 260 patients randomized; 128 received standard care (medical practitioner led), and 130 received NP care. Two patients needed to be excluded due to incomplete consent forms. The proportion of patients who received analgesia within 30 minutes from being seen was 49.2% (n = 64) in the NP group and 29.7% (n = 38) in the standard group, a difference of 19.5% (95% confidence interval [CI] = 7.9% to 31.2%; p = 0.001). Of 165 patients who received analgesia, 64 (84.2%) received analgesia within 30 minutes in the NP group compared to 38 (42.7%) in the standard care group, a difference in proportions of 41.5% (95% CI = 28.3% to 54.7%; p < 0.001). The mean (±SD) time from being seen to analgesia was 25.4 (±39.2) minutes for NP care and 43.0 (±35.5) minutes for standard care, a difference of 17.6 minutes (95% CI = 6.1 to 29.1 minutes; p = 0.003). There was a difference in the median change in pain score of 0.5 between care groups, but this was not statistically significant (p = 0.13). Conclusions Nurse practitioner service effectiveness was demonstrated through superior performance in achieving timely analgesia for ED patients.

“They are like family”: The emotional cost experienced by nurses when caring for haemodialysis patients

Background Haemodialysis (HD) nursing is characterised by frequent, intense interactions with patients over long periods of time resulting in a unique nurse-patient relationship. Due to the life-limiting nature of end-stage renal failure, nurses are likely to have repeated exposures to the death of patients with whom they have formed relationships. Repeated exposure to patient death translates into frequent grief experiences. There is scant literature on the psychological impact of patient death for nurses working in the HD setting. Aims To explore HD nurses experiences of patient death and coping mechanisms used. Methods A sequential mixed method study investigating job satisfaction, stress and burnout found that HD nurses had high levels of stress and burnout. These results were explored in more detail during 8 semi-structured interviews with HD nurses. Interviews were audio-recorded, transcribed verbatim and subjected to thematic analysis. Results Three themes were identified that highlight the stress experienced by nurses when a haemodialysis patient dies. The first theme, “quazi-family” describes the close relationship which forms between nurses and patients. The “complicated grief” theme outlines the impact of death on HD nurses, and the final theme, “remembrance” explains some of the coping mechanisms used in the grieving process. Conclusion Nurses develop individual coping mechanisms to accommodate the grief and loss experienced when a “close” patient dies. The grieving process caused by the death of patient’s needs to be recognised by nurses and nurse managers as causing psychological stress and strain.

A computer-controlled hyperthermia system

Hyperthermia, raised temperature, has been used as a means of treating cancer for centuries. Hippocrates (400 BC) and Galen (200 BC) used red-hot irons to treat small tumours. Much later, after the Renaissance, there are many reports of spontaneous tumour regression in patients with fevers produced by erysipelas, malaria, smallpox, tuberculosis and influenza. These illnesses produce fevers of about 40 °C which last for several days. Temperatures of at least 40 °C were found to be necessary for tumour regression. Towards the end of the nineteenth century pyrogenic bacteria were injected into patients with cancer. In 1896, Coly used a mixture of erysipelas and B. prodigeosus, with some success...

The influence of family history of hypertension on disease prevalence and associated metabolic risk factors among Sri Lankan adults

Background Hypertension is a major contributor to the global non-communicable disease burden. Family history is an important non-modifiable risk factor for hypertension. The present study aims to describe the influence of family history (FH) on hypertension prevalence and associated metabolic risk factors in a large cohort of South Asian adults, from a nationally representative sample from Sri Lanka. Methods A cross-sectional survey among 5,000 Sri Lankan adults, evaluating FH at the levels of parents, grandparents, siblings and children. A binary logistic regression analysis was performed in all patients with ‘presence of hypertension’ as dichotomous dependent variable and using family history in parents, grandparents, siblings and children as binary independent variables. The adjusted odds ratio controlling for confounders (age, gender, body mass index, diabetes, hyperlipidemia and physical activity) are presented below. Results In all adults the prevalence of hypertension was significantly higher in patients with a FH (29.3 %, n = 572/1951) than those without (24.4 %, n = 616/2530) (p < 0.001). Presence of a FH significantly increased the risk of hypertension (OR:1.29; 95 % CI:1.13-1.47), obesity (OR:1.36; 95 % CI: 1.27–1.45), central obesity (OR:1.30; 95 % CI 1.22–1.40) and metabolic syndrome (OR:1.19; 95 % CI: 1.08–1.30). In all adults presence of family history in parents (OR:1.28; 95 % CI: 1.12–1.48), grandparents (OR:1.34; 95 % CI: 1.20–1.50) and siblings (OR:1.27; 95 % CI: 1.21–1.33) all were associated with significantly increased risk of developing hypertension. Conclusions Our results show that the prevalence of hypertension was significantly higher in those with a FH of hypertension. FH of hypertension was also associated with the prevalence of obesity, central obesity and metabolic syndrome. Individuals with a FH of hypertension form an easily identifiable group who may benefit from targeted interventions.

The optimal frequency of aquatic physiotherapy for individuals with chronic musculoskeletal pain: a randomised controlled trial

Purpose: To establish whether there was a difference in health-related quality of life (HRQoL) in people with chronic musculoskeletal disorders (PwCMSKD) after participating in a multimodal physiotherapy program (MPP) either two or three sessions a week. Methods: Total of 114 PwCMSKD participated in this prospective randomised controlled trial. An individualised MPP, consisting of exercises for mobility, motor-control, muscle strengthening, cardiovascular training, and health education, was implemented either twice a week (G2: n = 58) or three times a week) (G3: n = 56) for 1 year. Outcomes: HRQoL physical and mental health state (PHS/MHS), Roland Morris disability Questionnaire (RMQ), Neck-Disability-Index (NDI) and Western Ontario and McMaster Universities’ Arthritis Index (WOMAC) were used to measure outcomes of MPP for people with chronic low back pain, chronic neck pain and osteoarthritis, respectively. Measures were taken at baseline, 8 weeks (8 w), 6 months (6 m), and 1 year (1 y) after starting the programme. Results: No statistically significant differences were found between the two groups (G2 and G3), except in NDI at 8 w (−3.34, (CI 95%: −6.94/0.84, p = 0.025 (scale 0–50)). All variables showed improvement reaching the following values (from baseline to 1 y) G2: PHS: 57.72 (baseline: 41.17; (improvement: 16.55%), MHS: 74.51 (baseline: 47.46, 27.05%), HRQoL 0.90 (baseline: 0.72, 18%)), HRQoL-VAS 84.29 (baseline: 58.04, 26.25%), RMQ 4.15 (baseline: 7.85, 15.42%), NDI 3.96 (baseline: 21.87, 35.82%), WOMAC 7.17 (baseline: 25.51, 19.10%). G3: PHS: 58.64 (baseline: 39.75, 18.89%), MHS: 75.50 (baseline: 45.45, (30.05%), HRQoL 0.67 (baseline: 0.88, 21%), HRQoL-VAS 86.91 (baseline: 52.64, 34.27%), RMQ 4.83 (baseline: 8.93, 17.08%), NDI 4.91 (baseline: 23.82, 37.82%), WOMAC 6.35 (baseline: 15.30, 9.32%). Conclusions: No significant differences between the two groups were found in the outcomes of a MPP except in the NDI at 8 weeks, but both groups improved in all variables during the course of 1 year under study.

Treatment of proximal interphalangeal joint flexion contracture: Combined static and dynamic orthotic intervention compared with other therapy intervention: randomized controlled trial

Purpose To test the effectiveness of static and dynamic orthoses using them as an exclusive treatment for proximal interphalangeal (PIP) joint flexion contracture compared with other hand therapy conservative treatments described in the literature. Methods 60 patients who used orthoses were compared with a control group that received other hand therapy treatments. Clinical assessments were measured before the experiment and 3 months after and included active PIP joint extension and function. Results A significant improvement in the extension active range of motion at the PIP joint in the second measurement was found in both groups, but it was significantly greater in the experimental group. Improvement in function (Disabilities of the Arm, Shoulder, and Hand score) between the first and second assessment was similar in the control and experimental groups. Conclusions Using night progressive static and daily dynamic orthoses as an exclusive treatment during the proliferative phase led to significant improvements in the PIP joint active extension, but the improvement did not correlate with increased function as perceived by the patient.

L-dopa modulates functional connectivity in striatal cognitive and motor networks: A double-blind placebo-controlled study

Functional connectivity (FC) analyses of resting-state fMRI data allow for the mapping of large-scale functional networks, and provide a novel means of examining the impact of dopaminergic challenge. Here, using a double-blind, placebo-controlled design, we examined the effect of L-dopa, a dopamine precursor, on striatal resting-state FC in 19 healthy young adults.Weexamined the FC of 6 striatal regions of interest (ROIs) previously shown to elicit networks known to be associated with motivational, cognitive and motor subdivisions of the caudate and putamen (Di Martino et al., 2008). In addition to replicating the previously demonstrated patterns of striatal FC, we observed robust effects of L-dopa. Specifically, L-dopa increased FC in motor pathways connecting the putamen ROIs with the cerebellum and brainstem. Although L-dopa also increased FC between the inferior ventral striatum and ventrolateral prefrontal cortex, it disrupted ventral striatal and dorsal caudate FC with the default mode network. These alterations in FC are consistent with studies that have demonstrated dopaminergic modulation of cognitive and motor striatal networks in healthy participants. Recent studies have demonstrated altered resting state FC in several conditions believed to be characterized by abnormal dopaminergic neurotransmission. Our findings suggest that the application of similar experimental pharmacological manipulations in such populations may further our understanding of the role of dopaminergic neurotransmission in those conditions.