Which outcomes are most important to people with aphasia and their families? an international nominal group technique study framed within the ICF

PURPOSE: To identify important treatment outcomes from the perspective of people with aphasia and their families using the ICF as a frame of reference. METHODS: The nominal group technique was used with people with aphasia and their family members in seven countries to identify and rank important treatment outcomes from aphasia rehabilitation. People with aphasia identified outcomes for themselves; and family members identified outcomes for themselves and for the person with aphasia. Outcomes were analysed using qualitative content analysis and ICF linking. RESULTS: A total of 39 people with aphasia and 29 family members participated in one of 16 nominal groups. Inductive qualitative content analysis revealed the following six themes: (1) Improved communication; (2) Increased life participation; (3) Changed attitudes through increased awareness and education about aphasia; (4) Recovered normality; (5) Improved physical and emotional well-being; and (6) Improved health (and support) services. Prioritized outcomes for both participant groups linked to all ICF components; primary activity/participation (39%) and body functions (36%) for people with aphasia, and activity/participation (49%) and environmental factors (28%) for family members. Outcomes prioritized by family members relating to the person with aphasia, primarily linked to body functions (60%). CONCLUSIONS: People with aphasia and their families identified treatment outcomes which span all components of the ICF. This has implications for research outcome measurement and clinical service provision which currently focuses on the measurement of body function outcomes. The wide range of desired outcomes generated by both people with aphasia and their family members, highlights the importance of collaborative goal setting within a family-centred approach to rehabilitation. These results will be combined with other stakeholder perspectives to establish a core outcome set for aphasia treatment research. Implications for Rehabilitation Important outcomes for people with aphasia and their families span all components of the ICF. The relevancy and translation of research findings may be increased by measuring and reporting research outcomes which are important to people living with aphasia. The results of this study indicate that important treatment outcomes for people living with aphasia most frequently link to the activity/participation and body function components of the ICF. The outcomes identified in this study suggest a broad role for clinicians working in aphasia rehabilitation. The categories of identified outcomes may be used clinically as a starting point in goal-setting discussions with clients and their families

Assessing health centre systems for guiding improvement in diabetes care

BACKGROUND: Aboriginal people in Australia experience the highest prevalence of diabetes in the country, an excess of preventable complications and early death. There is increasing evidence demonstrating the importance of healthcare systems for improvement of chronic illness care. The aims of this study were to assess the status of systems for chronic illness care in Aboriginal community health centres, and to explore whether more developed systems were associated with better quality of diabetes care. METHODS: This cross-sectional study was conducted in 12 Aboriginal community health centres in the Northern Territory of Australia. Assessment of Chronic Illness Care scale was adapted to measure system development in health centres, and administered by interview with health centre staff and managers. Based on a random sample of 295 clinical records from attending clients with diagnosed type 2 diabetes, processes of diabetes care were measured by rating of health service delivery against best-practice guidelines. Intermediate outcomes included the control of HbA1c, blood pressure, and total cholesterol. RESULTS: Health centre systems were in the low to mid-range of development and had distinct areas of strength and weakness. Four of the six system components were independently associated with quality of diabetes care: an increase of 1 unit of score for organisational influence, community linkages, and clinical information systems, respectively, was associated with 4.3%, 3.8%, and 4.5% improvement in adherence to process standards; likewise, organisational influence, delivery system design and clinical information systems were related to control of HbA1c, blood pressure, and total cholesterol. CONCLUSION: The state of development of health centre systems is reflected in quality of care outcome measures for patients. The health centre systems assessment tool should be useful in assessing and guiding development of systems for improvement of diabetes care in similar settings in Australia and internationally

Prevalence and prognosis of Alzheimer's disease at the mild cognitive impairment stage

Vos et al. compare the prevalence and prognosis of Alzheimer's disease at the mild cognitive impairment stage based on the IWG-1, IWG-2 and NIA-AA criteria. All three aid identification of early Alzheimer's disease, but combining amyloid and neuronal injury markers according to the NIA-AA criteria offers the most accurate prognosi

Cross-species transcriptomic analysis elucidates constitutive aryl hydrocarbon receptor activity

Peer reviewe

The genomes of two key bumblebee species with primitive eusocial organization

Background: The shift from solitary to social behavior is one of the major evolutionary transitions. Primitively eusocial bumblebees are uniquely placed to illuminate the evolution of highly eusocial insect societies. Bumblebees are also invaluable natural and agricultural pollinators, and there is widespread concern over recent population declines in some species. High-quality genomic data will inform key aspects of bumblebee biology, including susceptibility to implicated population viability threats. Results: We report the high quality draft genome sequences of Bombus terrestris and Bombus impatiens, two ecologically dominant bumblebees and widely utilized study species. Comparing these new genomes to those of the highly eusocial honeybee Apis mellifera and other Hymenoptera, we identify deeply conserved similarities, as well as novelties key to the biology of these organisms. Some honeybee genome features thought to underpin advanced eusociality are also present in bumblebees, indicating an earlier evolution in the bee lineage. Xenobiotic detoxification and immune genes are similarly depauperate in bumblebees and honeybees, and multiple categories of genes linked to social organization, including development and behavior, show high conservation. Key differences identified include a bias in bumblebee chemoreception towards gustation from olfaction, and striking differences in microRNAs, potentially responsible for gene regulation underlying social and other traits. Conclusions: These two bumblebee genomes provide a foundation for post-genomic research on these key pollinators and insect societies. Overall, gene repertoires suggest that the route to advanced eusociality in bees was mediated by many small changes in many genes and processes, and not by notable expansion or depauperation

Touchdown General Primer (GP5+/GP6+) PCR and optimized sample DNA concentration support the sensitive detection of human papillomavirus

BACKGROUND: The GP5+/GP6+ PCR assay is a well-established HPV detection technique. This study has examined the effects of incorporating 'hot start' and 'touchdown' steps into the protocol. In addition, dTTP was substituted with dUTP to permit contamination control measures against carry-over PCR product. METHODS: Firstly, HPV-16 was amplified from SiHa cell DNA (0.1 ng–100 ng) diluted in a background of C-33A DNA (100 ng-2 μg). Secondly, the detection of small quantities (15ag-1.5pg) of HPV recombinant plasmids (types 16, 31, 33, 45, 51, 52, and 56) diluted in C-33A DNA was investigated. Thirdly, clinical sample DNA extracts (cervical smears, formalin-fixed vaginal lesions and breast tumors) were tested for HPV. Six different PCR protocols were assessed. HPV was detected by gel electrophoresis, and by Southern and dot blot hybridization. RESULTS: HPV detection sensitivity was dependent on the total amount of DNA in a PCR. Touchdown protocols supported HPV-16 detection from 1 ng or 0.5 ng SiHa cell DNA in a background of 2 μg or 1 μg C-33A DNA respectively, and from 0.1 ng of SiHa cell DNA (~28 copies HPV-16) in 500 ng or 100 ng background DNA. Under standard GP5+/GP6+ annealing conditions, HPV-16 went undetected when the DNA content of a PCR was 2 μg or 1 μg, and with 500 ng C-33A DNA the sensitivity limit was 1 ng SiHa cell DNA. HPV recombinant plasmids were each detected with high (albeit varying) sensitivity by a touchdown protocol. HPV-31 was better amplified under standard annealing conditions (1.5fg in 100 ng background DNA) than by a touchdown approach (15fg detection limit). HPV-52 was not amplified by the standard protocol at the dilutions tested. Seventeen different HPV types were demonstrated in 47/65 (72%) abnormal cytology samples recorded as HPV negative by standard GP5+/GP6+ conditions. Twenty-one different HPV types were recorded in 111/114 (97%) vaginal lesions. Multiple infections were also detectable using a touchdown approach. Of 26 breast tumors, 5 (19%) tested HPV positive by the standard assay and 15/26 (58%) using a touchdown protocol. CONCLUSION: Touchdown modification of the GP5+/GP6+ PCR assay enables the detection of HPV undetected under regular assay conditions. The use of standardized DNA quantities in a PCR rather than standard sample volumes containing arbitrary amounts of DNA is supported. A touchdown approach may be beneficial as an analytical test for the re-evaluation of (apparently) HPV negative abnormal cervical cytological or histological samples, and for investigating the association of HPV with disease conditions at diverse organ sites. The clinical utility of a touchdown approach for HPV detection requires further investigation as increased assay analytical sensitivity may not necessarily equate with improved clinical sensitivity or specificity

Versatility and Stereotypy of Free-Tailed Bat Songs

In mammals, complex songs are uncommon and few studies have examined song composition or the order of elements in songs, particularly with respect to regional and individual variation. In this study we examine how syllables and phrases are ordered and combined, ie “syntax”, of the song of Tadarida brasiliensis, the Brazilian free-tailed bat. Specifically, we test whether phrase and song composition differ among individuals and between two regions, we determine variability across renditions within individuals, and test whether phrases are randomly ordered and combined. We report three major findings. First, song phrases were highly stereotyped across two regions, so much so that some songs from the two colonies were almost indistinguishable. All males produced songs with the same four types of syllables and the same three types of phrases. Second, we found that although song construction was similar across regions, the number of syllables within phrases, and the number and order of phrases in songs varied greatly within and among individuals. Last, we determined that phrase order, although diverse, deviated from random models. We found broad scale phrase-order rules and certain higher order combinations that were highly preferred. We conclude that free-tailed bat songs are composed of highly stereotyped phrases hierarchically organized by a common set of syntactical rules. However, within global species-specific patterns, songs male free-tailed bats dynamically vary syllable number, phrase order, and phrase repetitions across song renditions

A Close Eye on the Eagle-Eyed Visual Acuity Hypothesis of Autism

Autism spectrum disorders (ASD) have been associated with sensory hypersensitivity. A recent study reported visual acuity (VA) in ASD in the region reported for birds of prey. The validity of the results was subsequently doubted. This study examined VA in 34 individuals with ASD, 16 with schizophrenia (SCH), and 26 typically developing (TYP). Participants with ASD did not show higher VA than those with SCH and TYP. There were no substantial correlations of VA with clinical severity in ASD or SCH. This study could not confirm the eagle-eyed acuity hypothesis of ASD, or find evidence for a connection of VA and clinical phenotypes. Research needs to further address the origins and circumstances associated with altered sensory or perceptual processing in ASD

The Global Burden of Disease Study 2010: Interpretation and Implications for the Neglected Tropical Diseases

This article analyzes the "Global Burden of Disease Study 2010" and examines the study's implications for neglected tropical diseases

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine