Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications for the implementation of RAD51C into routine clinical genetic testing. Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the first study of unselected patients diagnosed with ovarian cancer.

Improving paediatric asthma outcomes in primary health care: a randomised controlled trial.

Objective: To evaluate the effectiveness of the Practitioner Asthma Communication and Education (PACE) Australia program, an innovative communication and paediatric asthma management program for general practitioners.

Design: Randomised controlled trial.

Setting: General practices from two regions in metropolitan Sydney.

Development of a multi-dimensional measure of resilience in adolescents: the Adolescent Resilience Questionnaire.

Background: The concept of resilience has captured the imagination of researchers and policy makers over the past two decades. However, despite the ever growing body of resilience research, there is a paucity of relevant, comprehensive measurement tools. In this article, the development of a theoretically based, comprehensive multi-dimensional measure of resilience in adolescents is described.

Too big to swallow.

The failure of current treatment approaches to severe obesity has resulted in significant investment by the scientific community to develop new treatments for this challenging health problem. Any new treatment must be scientifically tested to determine its potential role and any innovation in healthcare can be associated with moral and ethical challenges. This reflective piece is based on the experience of running the first randomised controlled trial to compare laparoscopic adjustable gastric banding to an intensive behaviourally-based intervention in adolescents with severe obesity during which many moral and ethical concerns were articulated by other health professionals.

Confidentiality with adolescents in the medical setting: what do parents think?

Purpose: When confidential health care is provided to adolescents they are more likely to seek care, disclose sensitive information, and return for future visits. Guidelines for health professionals recommend seeing young people alone to facilitate confidential care. We sought to document parental views regarding confidentiality with adolescents, aiming to identify topics that parents believe they should be informed about despite an assurance of confidentiality between their child and the doctor.

A snapshot of general practitioner attitudes, levels of confidence and self-reported paediatric asthma management practice.

The prevalence of asthma in Australia is high. Previous findings have suggested that asthma management, particularly in primary care, remains suboptimal and recent government initiatives to improve asthma management and encourage the use of written asthma action plans (WAAPs) in general practice have been implemented. We aimed to assess the attitudes, confidence and self-reported paediatric asthma management practices of a convenience sample of Australian general practitioners (GPs).

Species-specific features of DARC, the primate receptor for Plasmodium vivax and Plasmodium knowlesi.

The DARC (Duffy antigen/receptor for chemokines) gene, also called Duffy or FY, encodes a membrane-bound chemokine receptor. Two malaria parasites, Plasmodium vivax and Plasmodium knowlesi, use DARC to trigger internalization into red blood cells. Although much has been reported on the evolution of DARC null alleles, little is known about the evolution of the coding portion of this gene or the role that protein sequence divergence in this receptor may play in disease susceptibility or zoonosis.

Obscured phylogeny and possible recombinational dormancy in Escherichia coli.

Background: Escherichia coli is one of the best studied organisms in all of biology, but its phylogenetic structure has been difficult to resolve with current data and analytical techniques. We analyzed single nucleotide polymorphisms in chromosomes of representative strains to reconstruct the topology of its emergence.

Results: The phylogeny of E.

An NCI perspective on creating sustainable biospecimen resources.

High-quality biospecimens with appropriate clinical annotation are critical in the era of personalized medicine. It is now widely recognized that biospecimen resources need to be developed and operated under established scientific, technical, business, and ethical/legal standards. To date, such standards have not been widely practiced, resulting in variable biospecimen quality that may compromise research efforts.

Global burden of disease in young people aged 10-24 years: a systematic analysis.

Background: Young people aged 10-24 years represent 27% of the world's population. Although important health problems and risk factors for disease in later life emerge in these years, the contribution to the global burden of disease is unknown. We describe the global burden of disease arising in young people and the contribution of risk factors to that burden.

Identifying patient-specific beliefs and behaviours for conversations about adherence in asthma.

Background: Asthma guidelines advise addressing adherence at every visit, but no simple tools exist to assist clinicians in identifying key adherence-related beliefs or behaviours for individual patients.

Aims: To identify potentially modifiable beliefs and behaviours that predict electronically recorded adherence with controller therapy.

Methods: Patients aged ≥ 14 years with doctor-diagnosed asthma who were prescribed inhaled corticosteroid/long-acting β(2)-agonist (ICS/LABA) completed questionnaires on medication beliefs/behaviours, side-effects, Morisky adherence behaviour score and Asthma Control Test (ACT), and recorded spirometry.

Carnitine palmitoyltransferase 1C promotes cell survival and tumor growth under conditions of metabolic stress.

Tumor cells gain a survival/growth advantage by adapting their metabolism to respond to environmental stress, a process known as metabolic transformation. The best-known aspect of metabolic transformation is the Warburg effect, whereby cancer cells up-regulate glycolysis under aerobic conditions. However, other mechanisms mediating metabolic transformation remain undefined.

Two-stepping through time: mammals and viruses.

Recent studies have identified ancient virus genomes preserved as fossils within diverse animal genomes. These fossils have led to the revelation that a broad range of mammalian virus families are older and more ubiquitous than previously appreciated. Long-term interactions between viruses and their hosts often develop into genetic arms races where both parties continually jockey for evolutionary dominance.

Evolutionary origins of the estrogen signaling system: insights from amphioxus.

Classically, the estrogen signaling system has two core components: cytochrome P450 aromatase (CYP19), the enzyme complex that catalyzes the rate limiting step in estrogen biosynthesis; and estrogen receptors (ERs), ligand activated transcription factors that interact with the regulatory region of target genes to mediate the biological effects of estrogen. While the importance of estrogens for regulation of reproduction, development and physiology has been well-documented in gnathostome vertebrates, the evolutionary origins of estrogen as a hormone are still unclear. As invertebrates within the phylum Chordata, cephalochordates (e.

Virtual labyrinth model of vestibular afferent excitation via implanted electrodes: validation and application to design of a multichannel vestibular prosthesis.

To facilitate design of a multichannel vestibular prosthesis that can restore sensation to individuals with bilateral loss of vestibular hair cell function, we created a virtual labyrinth model. Model geometry was generated through 3-dimensional (3D) reconstruction of microMRI and microCT scans of normal chinchillas (Chinchilla lanigera) acquired with 30-48 μm and 12 μm voxels, respectively. Virtual electrodes were positioned based on anatomic landmarks, and the extracellular potential field during a current pulse was computed using finite element methods.

Overweight and obesity between adolescence and young adulthood: a 10-year prospective cohort study.

Objectives: To assess changes in overweight and obesity between adolescence and young adulthood.

Design: Prospective 8-wave cohort study in Victoria, Australia, with 1,520 adolescents tracked from the age of 14 for a period of 10 years.

Main Outcome Measures: Participants aged <18 years were classified as non-overweight, overweight, or obese according to International Obesity Taskforce cutoff points.

Association of disturbances in the thoracic outlet in subjects with carpal tunnel syndrome: a case-control study.

Introduction: A limited amount of research has investigated the potential relationship between carpal tunnel syndrome (CTS) and thoracic outlet dysfunction.

Purpose Of The Study: To compare the prevalence of positive clinical tests suggestive of disputed neurogenic thoracic outlet syndrome (TOS) in subjects with CTS (CTS+) with that of subjects without CTS (control).

Study Design: Case-control study.

Feasibility study of a communication and education asthma intervention for general practitioners in Australia.

The Physician Asthma Care Education (PACE) program significantly improved asthma prescribing and communication behaviours of primary care paediatricians in the USA. We tested the feasibility and acceptability of a modified PACE program with Australian general practitioners (GP) and measured its impact on self-reported consulting behaviours in a pilot study. Recruitment took place through a local GP division.

Ancient and recent adaptive evolution of primate non-homologous end joining genes.

In human cells, DNA double-strand breaks are repaired primarily by the non-homologous end joining (NHEJ) pathway. Given their critical nature, we expected NHEJ proteins to be evolutionarily conserved, with relatively little sequence change over time. Here, we report that while critical domains of these proteins are conserved as expected, the sequence of NHEJ proteins has also been shaped by recurrent positive selection, leading to rapid sequence evolution in other protein domains.

Boundaries and dual relationships.

Ethical standards are core components of practice standards and codes of conduct for mental health practitioners. Practice standards and ethics related to boundaries are generally based on historical review, study of mental health services, and the impact of boundary crossing or boundary violations on clients receiving services. This article explores some common standards of ethical practice related to boundaries and dual or multiple relationships between mental health professionals and clients.

Protein C as an early biomarker to distinguish pneumonia from sepsis.

Purpose: Patients with pneumonia often are unrecognized as also having sepsis. We evaluated protein C, as a potential biomarker, to differentiate between patients with pneumonia and sepsis.

Materials And Methods: A retrospective chart review was performed for all protein C tests over a 14-month period (January 11, 2007, to March 10, 2008) at an 8-hospital system with 1706 total beds.

Visual storytelling: a beneficial but challenging method for health research with young people.

Visual storytelling is a new research approach drawing on established methods of photovoice and photo elicitation. It appears well suited to research with young people. We explored the feasibility of this approach, reflecting on benefits and challenges encountered while using it during a study of chronic disease self-management in adolescents.

Effects of tai chi exercise on posturography, gait, physical function and quality of life in postmenopausal women with osteopaenia: a randomized clinical study.

Objective: to evaluate the effects of tai chi exercise on risk factors for falls in postmenopausal women with osteopaenia through measurements of balance, gait, physical function and quality of life.

Design: a randomized, controlled, single-blinded, 24-week trial with stratification by age and bone mass.

Setting: general community.