Discovery of genes that affect human brain connectivity: A genome-wide analysis of the connectome

Human brain connectivity is disrupted in a wide range of disorders from Alzheimer's disease to autism but little is known about which specific genes affect it. Here we conducted a genome-wide association for connectivity matrices that capture information on the density of fiber connections between 70 brain regions. We scanned a large twin cohort (N=366) with 4-Tesla high angular resolution diffusion imaging (105-gradient HARDI). Using whole brain HARDI tractography, we extracted a relatively sparse 70×70 matrix representing fiber density between all pairs of cortical regions automatically labeled in co-registered anatomical scans. Additive genetic factors accounted for 1-58% of the variance in connectivity between 90 (of 122) tested nodes. We discovered genome-wide significant associations between variants and connectivity. GWAS permutations at various levels of heritability, and split-sample replication, validated our genetic findings. The resulting genes may offer new leads for mechanisms influencing aberrant connectivity and neurodegeneration. © 2012 IEEE.

Brain and cognitive development

'The Millennial Adolescent' offers contemporary, stimulating insights for those currently teaching as well as those preparing to teach. This book investigates the characteristics of Generation Y, using students own voices, generational theory and case studies. The text is structured around the principle that effective teachers need to know who they are teaching as well as what to teach, how to teach it, and how to assess the outcome. Using generational theory, 'The Millennial Adolescent' investigates the characteristics of Generation Y, or the Millennial Generation, and points out what all teachers need to know about working with this current generation of students who are described in a number of ways digital natives, team oriented, confident, multi-taskers, high achievers, and a generation unlike any other. The book contains well-known frameworks for developing understandings about adolescents, blended and contrasted with a contemporary socio-cultural construction of adolescence, set in our particular time, era and society. This book reflects the uniqueness of Australian contexts, while connecting with international trends and global patterns. Engaging and full of insights, this book is essential reading for all professionals dealing with adolescents.

Human brain regions required for the dividing and switching of attention between two features of a single object

This combined PET and ERP study was designed to identify the brain regions activated in switching and divided attention between different features of a single object using matched sensory stimuli and motor response. The ERP data have previously been reported in this journal [64]. We now present the corresponding PET data. We identified partially overlapping neural networks with paradigms requiring the switching or dividing of attention between the elements of complex visual stimuli. Regions of activation were found in the prefrontal and temporal cortices and cerebellum. Each task resulted in different prefrontal cortical regions of activation lending support to the functional subspecialisation of the prefrontal and temporal cortices being based on the cognitive operations required rather than the stimuli themselves.

Girl in the Shadows and resilience and coping strategies in contemporary young adult fiction

The novel manuscript Girl in the Shadows tells the story of two teenage girls whose friendship, safety and sanity are pushed to the limits when an unexplained phenomenon invades their lives. Sixteen-year-old Tash has everything a teenage girl could want: good looks, brains and freedom from her busy parents. But when she looks into her mirror, a stranger’s face stares back at her. Her best friend Mal believes it’s an evil spirit and enters the world of the supernatural to find answers. But spell books and ouija boards cannot fix a problem that comes from deep within the soul. It will take a journey to the edge of madness for Tash to face the truth inside her heart and see the evil that lurks in her home. And Mal’s love and courage to pull her back into life. The exegesis examines resilience and coping strategies in adolescence, in particular, the relationship of trauma to brain development in children and teenagers. It draws on recent discoveries in neuroscience and psychology to provide a framework to examine the role of coping strategies in building resilience. Within this broader context, it analyses two works of contemporary young adult fiction, Freaky Green Eyes by Joyce Carol Oates and Sonya Hartnett’s Surrender, their use of the split persona as a coping mechanism within young adult fiction and the potential of young adult literature as a tool to help build resilience in teen readers.

Brain-derived neurotrophic factor (BDNF) gene : no major impact on antidepressant treatment response

The brain-derived neurotrophic factor (BDNF) has been suggested to play a pivotal role in the aetiology of affective disorders. In order to further clarify the impact of BDNF gene variation on major depression as well as antidepressant treatment response, association of three BDNF polymorphisms [rs7103411, Val66Met (rs6265) and rs7124442] with major depression and antidepressant treatment response was investigated in an overall sample of 268 German patients with major depression and 424 healthy controls. False discovery rate (FDR) was applied to control for multiple testing. Additionally, ten markers in BDNF were tested for association with citalopram outcome in the STAR*D sample. While BDNF was not associated with major depression as a categorical diagnosis, the BDNF rs7124442 TT genotype was significantly related to worse treatment outcome over 6 wk in major depression (p=0.01) particularly in anxious depression (p=0.003) in the German sample. However, BDNF rs7103411 and rs6265 similarly predicted worse treatment response over 6 wk in clinical subtypes of depression such as melancholic depression only (rs7103411: TT

Controversies of prophylactic hypothermia and the emerging use of brain tissue oxygen tension monitoring and decompressive craniectomy in traumatic brain-injured children

Background Despite being the leading cause of death and disability in the paediatric population, traumatic brain injury (TBI) in this group is largely understudied. Clinical practice within the paediatric intensive care unit (PICU) has been based upon adult guidelines however children are significantly different in terms of mechanism, pathophysiology and consequence of injury. Aim To review TBI management in the PICU and gain insight into potential management strategies. Method To conduct this review, a literature search was conducted using MEDLINE, PUBMED and The Cochrane Library using the following key words; traumatic brain injury; paediatric; hypothermia. There were no date restrictions applied to ensure that past studies, whose principles remain current were not excluded. Results Three areas were identified from the literature search and will be discussed against current acknowledged treatment strategies: Prophylactic hypothermia, brain tissue oxygen tension monitoring and decompressive craniectomy. Conclusion Previous literature has failed to fully address paediatric specific management protocols and we therefore have little evidence-based guidance. This review has shown that there is an emerging and ongoing trend towards paediatric specific TBI research in particular the area of moderate prophylactic hypothermia (MPH).

RatSLAM on the edge : revealing a coherent representation from an overloaded rat brain

The RatSLAM system can perform vision based SLAM using a computational model of the rodent hippocampus. When the number of pose cells used to represent space in RatSLAM is reduced, artifacts are introduced that hinder its use for goal directed navigation. This paper describes a new component for the RatSLAM system called an experience map, which provides a coherent representation for goal directed navigation. Results are presented for two sets of real world experiments, including comparison with the original goal memory system's performance in the same environment. Preliminary results are also presented demonstrating the ability of the experience map to adapt to simple short term changes in the environment.

Do clients with acquired brain injury use the splints prescribed by occupational therapists? A descriptive study

Clients with acquired brain injury often demonstrate hypertonicity and decreased function in their upper limbs, requiring appropriate intervention. Splinting is one of the intervention methods that is widely used to address these issues. Literature shows that some clients are not using splints following fabrication. However, there is a paucity of research about the factors that influence clients to use or not use splints. This study aims to investigate these influential factors for clients with upper limb hypertonicity. Two survey tools including therapist and client questionnaires were developed and completed by both therapists and clients. Six therapists and 14 clients participated in this study and completed the relevant questionnaires. The results illustrate that most clients (13 out of 14) were continuing to use their splints four weeks following discharge from hospital. The main goals of choosing splints for both therapists and clients were prevention of contracture and deformity. The most indicated client reasons for adhering to the splint wearing program were therapist-related factors including clients’ trust and reliance on their therapists. Further reasons for clients implementing the recommended splint-wearing program and clinical implications are discussed.

"The Lost Lounge" - Split Britches (Lois Weaver, Peggy Shaw)

Digital Scenography and traditional Stage Design for the US premiere of Split Britches "The Lost Lounge" - Lois Weaver and Peggy Shaw, Dixons Place New York, December 2009 Digital Scenography and traditional Stage Design for the UK premiere of Split Britches "The Lost Lounge" - Lois Weaver and Peggy Shaw, The Great Hall, Peoples Palace, London, March 2010

Factors influencing quality of life in patients with benign primary brain tumors : prior to and following surgery

Goals: Few studies have repeatedly evaluated quality of life and potentially relevant factors in patients with benign primary brain tumor. The purpose of this study was to explore the relationship between the experience of the symptom distress, functional status, depression, and quality of life prior to surgery (T1) and 1 month post-discharge (T2). ---------- Patients and methods: This was a prospective cohort study including 58 patients with benign primary brain tumor in one teaching hospital in the Taipei area of Taiwan. The research instruments included the M.D. Anderson Symptom Inventory, the Functional Independence Measure scale, the Hospital Depression Scale, and the Functional Assessment of Cancer Therapy-Brain.---------- Results: Symptom distress (T1: r=−0.90, p<0.01; T2: r=−0.52, p<0.01), functional status (T1: r=0.56, p<0.01), and depression (T1: r=−0.71, p<0.01) demonstrated a significant relationship with patients' quality of life. Multivariate analysis identified symptom distress (explained 80.2%, Rinc 2=0.802, p=0.001) and depression (explained 5.2%, Rinc 2=0.052, p<0.001) continued to have a significant independent influence on quality of life prior to surgery (T1) after controlling for key demographic and medical variables. Furthermore, only symptom distress (explained 27.1%, Rinc 2=0.271, p=0.001) continued to have a significant independent influence on quality of life at 1 month after discharge (T2).---------- Conclusions: The study highlights the potential importance of a patient's symptom distress on quality of life prior to and following surgery. Health professionals should inquire about symptom distress over time. Specific interventions for symptoms may improve the symptom impact on quality of life. Additional studies should evaluate symptom distress on longer-term quality of life of patients with benign brain tumor.

Making sense of brain tumour: A qualitative investigation of personal and social processes of adjustment

This study investigated personal and social processes of adjustment at different stages of illness for individuals with brain tumour. A purposive sample of 18 participants with mixed tumour types (9 benign and 9 malignant) and 15 family caregivers was recruited from a neurosurgical practice and a brain tumour support service. In-depth semi-structured interviews focused on participants’ perceptions of their adjustment, including personal appraisals, coping and social support since their brain tumour diagnosis. Interview transcripts were analysed thematically using open, axial and selective coding techniques. The primary theme that emerged from the analysis entailed “key sense making appraisals”, which was closely related to the following secondary themes: (1) Interactions with those in the healthcare system, (2) reactions and support from the personal support network, and (3) a diversity of coping efforts. Adjustment to brain tumour involved a series of appraisals about the illness that were influenced by interactions with those in the healthcare system, reactions and support from people in their support network, and personal coping efforts. Overall, the findings indicate that adjustment to brain tumour is highly individualistic; however, some common personal and social processes are evident in how people make sense of and adapt to the illness over time. A preliminary framework of adjustment based on the present findings and its clinical relevance are discussed. In particular, it is important for health professionals to seek to understand and support individuals’ sense-making processes following diagnosis of brain tumour.

Pedunculopontine nucleus deep brain stimulation produces sustained improvement in primary progressive freezing of gait

Objective: To assess the efficacy of bilateral pedunculopontine nucleus (PPN) deep brain stimulation (DBS) as a treatment for primary progressive freezing of gait (PPFG). ------ ----- Methods: A patient with PPFG underwent bilateral PPN-DBS and was followed clinically for over 14 months. ------ ----- Results: The PPFG patient exhibited a robust improvement in gait and posture following PPN-DBS. When PPN stimulation was deactivated, postural stability and gait skills declined to pre-DBS levels, and fluoro-2-deoxy-d-glucose positron emission tomography revealed hypoactive cerebellar and brainstem regions, which significantly normalised when PPN stimulation was reactivated. ------ ----- Conclusions: This case demonstrates that the advantages of PPN-DBS may not be limited to addressing freezing of gait (FOG) in idiopathic Parkinson's disease. The PPN may also be an effective DBS target to address other forms of central gait failure.

Exposure of pipe insulation to high temperatures from domestic pumped storage (split) solar water heating systems in Australia and New Zealand

Pipe insulation between the collector and storage tank on pumped storage (commonly called split), solar water heaters can be subject to high temperatures, with a maximum equal to the collector stagnation temperature. The frequency of occurrence of these temperatures is dependent on many factors including climate, hot water demand, system size and efficiency. This paper outlines the findings of a computer modelling study to quantify the frequency of occurrence of pipe temperatures of 80 degrees Celsius or greater at the outlet of the collectors for these systems. This study will help insulation suppliers determine the suitability of their materials for this application. The TRNSYS program was used to model the performance of a common size of domestic split solar system, using both flat plate and evacuated tube, selective surface collectors. Each system was modelled at a representative city in each of the 6 climate zones for Australia and New Zealand, according to AS/NZS4234 - Heat Water Systems - Calculation of energy consumption, and the ORER RECs calculation method. TRNSYS was used to predict the frequency of occurrence of the temperatures that the pipe insulation would be exposed to over an average year, for hot water consumption patterns specified in AS/NZS4234, and for worst case conditions in each of the climate zones. The results show; * For selectively surfaced, flat plate collectors in the hottest location (Alice Sprints) with a medium size hot water demand according to AS/NZS2434, the annual frequency of occurrence of temperatures at and above 80 degrees Celsius was 33 hours. The frequency of temperatures at and above 140 degrees Celsius was insignificant. * For evacuated tube collectors in the hottest location (Alice Springs), the annual frequency of temperatures at and above 80 degrees Celsius was 50 hours. Temperatures at and above 140 degrees Celsius were significant and were estimated to occur for more than 21 hours per year in this climate zone. Even in Melbourne, temperatures at and above 80 degrees can occur for 12 hours per year and at and above 140 degrees for 5 hours per year. * The worst case identified was for evacuated tube collectors in Alice Springs, with mostly afternoon loads in January. Under these conditions, the frequency of temperatures at and above 80 degrees Celsius was 10 hours for this month only. Temperatures at and above 140 degrees Celsius were predicted to occur for 5 hours in January.

Energy and cost savings from pipe insulation on domestic, pumped storage (split), solar water heating systems in Australia and New Zealand

Appropriate pipe insulation on domestic, pumped storage (split), solar water heating systems forms an integral part of energy conservation measures of well engineered systems. However, its importance over the life of the system is often overlooked. This study outlines the findings of computer modelling to quantify the energy and cost savings by using pipe insulation between the collector and storage tank. System sizes of 270 Litre storage tank, together with either selectively surfaced, flat plate collectors (4m2 area), or 30 evacuated tube collectors, were used. Insulation thicknesses of 13mm and 15mm, pipe runs both ways of 10, 15 and 20 metres and both electric and gas boosting of systems were all considered. The TRNSYS program was used to model the system performance at a representative city in each of the 6 climate zones for Australia and New Zealand, according to AS/NZS4234 – Heat Water Systems – Calculation of energy consumption and the ORER RECs calculation method. The results show:  Energy savings from pipe insulation are very significant, even in mild climates such as Rockhampton. Across all climates zones, savings ranged from 0.16 to 3.5GJ per system per year, or about 2 to 23 percent of the annual load.  There is very little advantage in increasing the insulation thickness from 13 to 15mm. For electricity at 19c/kWh and gas at 2 c/MJ, cost savings of between $27 and $100 per year are achieved across the climate zones. Both energy and cost savings would increase in colder climates with increased system size, solar contribution and water temperatures.  The pipe insulation substantially improves the solar contribution (or fraction) and Renewable Energy Certificates (RECs), as well as giving small savings in circulating pump running costs in milder climates. Solar contribution increased by up to 23 percent points and RECs by over 7 in some cases.  The study highlights the need to install and maintain the integrity of appropriate pipe insulation on solar water heaters over their life time in Australia and New Zealand.