Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Purpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children. Methods: The sample comprised parents and/or primary caregivers of 20 adults, aged 18–38 years, who were registered with the Australian Rett Syndrome Database. Semi-structured telephone interviews were conducted to investigate aspects of life that were observed to be satisfying or challenging. Data were analyzed using directed content analysis, based on existing QOL domains for children with RTT that related to health and wellbeing, daily activities, and community immersion and services. Results: Each of the domains identified for children with RTT was represented in the adult dataset, with no new domains emerging. Conclusion: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group.IMPLICATIONS FOR REHABILITATION Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues. Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood. Services that maintain functional skills and health throughout the lifespan are valued for their support of quality of life in adults with Rett syndrome

Systematics of RR Lyrae Statistical Parallax III: Apparent Magnitudes and Extinctions

We sing the praises of the central limit theorem. Having previously removed all other possible causes of significant systematic error in the statistical parallax determination of RR Lyrae absolute magnitudes, we investigate systematic errors from two final sources of input data: apparent magnitudes and extinctions. We find corrections due to each of ~0.05 mag, i.e., ~1/2 the statistical error. However, these are of opposite sign and so roughly cancel. The apparent magnitude system that we previously adopted from Layden et al. was calibrated to the photometry of Clube & Dawe. Using Hipparcos photometry we show that the Clube & Dawe system is ~0.06 mag too bright. Extinctions were previously pinned to the HI-based map of Burstein & Heiles. We argue that A_V should rather be based on new COBE/IRAS dust-emission map of Schlegel, Finkbeiner & Davis. This change increases the mean A_V by ~0.05 mag. We find M_V=0.77 +/- 0.13 at [Fe/H]=-1.60 for a pure sample of 147 halo RR Lyraes, or M_V=0.80 +/- 0.11 at [Fe/H]=-1.71 if we incorporate kinematic information from 716 non-kinematically selected non-RR Lyrae stars from Beers & Sommer-Larsen. These are 2 and 3 sigma fainter than recent determinations of M_V from main sequence fitting of clusters using Hipparcos measurements of subdwarfs by Reid and Gratton et al. Since statistical parallax is being cleared of systematic errors and since the chance of a >2 sigma statistical fluctuation is <1/20, we conclude that these brighter determinations may be in error. In the course of three papers, we have corrected 6 systematic errors whose absolute values total 0.20 mag. Had these, contrary to the expectation of the central limit theorem, all lined up one way, they could have resolved the conflict in favor of the brighter determinations. In fact, the net change was only 0.06 mag.Comment: submitted to ApJ, 21 pages, 2 tables, 4 figure

Future challenges in cephalopod research

We thank Anto´nio M. de Frias Martins, past President of the Unitas Malacologica and Peter Marko, President of the American Malacological Society for organizing the 2013 World Congress of Malacology, and the Cephalopod International Advisory Committee for endorsing a symposium held in honour of Malcolm R. Clarke. In particular, we would like to thank the many professional staff from the University of the Azores for their hospitality, organization, troubleshooting and warm welcome to the Azores. We also thank Malcolm Clarke’s widow, Dorothy, his daughter Zoe¨, Jose´ N. Gomes-Pereira and numerous colleagues and friends of Malcolm’s from around the world for joining us at Ponta Delgada. We are grateful to Lyndsey Claro (Princeton University Press) for granting copyright permissions.Peer reviewedPublisher PD

Epipodial tentacle gene expression and predetermined resilience to summer mortality in the commercially important greenlip abalone, Haliotis laevigata

"Summer mortality" is a phenomenon that occurs during warm water temperature spikes that results in the mass mortality of many ecologically and economically important mollusks such as abalone. This study aimed to determine whether the baseline gene expression of abalone before a laboratory-induced summer mortality event was associated with resilience to summer mortality. Tentacle transcriptomes of 35 greenlip abalone (Haliotis laevigata) were sequenced prior to the animals being exposed to an increase in water temperature — simulating conditions which have previously resulted in summer mortality. Abalone derived from three source locations with different environmental conditions were categorized as susceptible or resistant to summer mortality depending on whether they died or survived after the water temperature was increased. We detected two genes showing significantly higher expression in resilient abalone relative to susceptible abalone prior to the laboratory-induced summer mortality event. One of these genes was annotated through the NCBI non-redundant protein database using BLASTX to an anemone (Exaiptasia pallida) Transposon Ty3-G Gag Pol polyprotein. Distinct gene expression signatures were also found between resilient and susceptible abalone depending on the population origin, which may suggest divergence in local adaptation mechanisms for resilience. Many of these genes have been suggested to be involved in antioxidant and immune-related functions. The identification of these genes and their functional roles have enhanced our understanding of processes that may contribute to summer mortality in abalone. Our study supports the hypothesis that prestress gene expression signatures are indicative of the likelihood of summer mortality

Healthy together Victoria and childhood obesity: a methodology for measuring changes in childhood obesity in response to a community-based, whole of system cluster randomized control trial

BACKGROUND: Healthy Together Victoria (HTV) - a complex \u27whole of system\u27 intervention, including an embedded cluster randomized control trial, to reduce chronic disease by addressing risk factors (physical inactivity, poor diet quality, smoking and harmful alcohol use) among children and adults in selected communities in Victoria, Australia (Healthy Together Communities). OBJECTIVES: To describe the methodology for: 1) assessing changes in the prevalence of measured childhood obesity and associated risks between primary and secondary school students in HTV communities, compared with comparison communities; and 2) assessing community-level system changes that influence childhood obesity in HTC and comparison communities. METHODS: Twenty-four geographically bounded areas were randomized to either prevention or comparison (2012). A repeat cross-sectional study utilising opt-out consent will collect objectively measured height, weight, waist and self-reported behavioral data among primary [Grade 4 (aged 9-10y) and Grade 6 (aged 11-12y)] and secondary [Grade 8 (aged 13-14y) and Grade 10 (aged 15-16y)] school students (2014 to 2018). Relationships between measured childhood obesity and system causes, as defined in the Foresight obesity systems map, will be assessed using a range of routine and customised data. CONCLUSION: This research methodology describes the beginnings of a state-wide childhood obesity monitoring system that can evolve to regularly inform progress on reducing obesity, and situate these changes in the context of broader community-level system change

Innate secretory antibodies protect against natural Salmonella typhimurium infection

The production of IgA is induced in an antigen-unspecific manner by commensal flora. These secretory antibodies (SAbs) may bind multiple antigens and are thought to eliminate commensal bacteria and self-antigens to avoid systemic recognition. In this study, we addressed the role of “innate” SAbs, i.e., those that are continuously produced in normal individuals, in protection against infection of the gastrointestinal tract. We used polymeric immunoglobulin receptor (pIgR−/−) knock-out mice, which are unable to bind and actively transport dimeric IgA and pentameric IgM to the mucosae, and examined the role of innate SAbs in protection against the invasive pathogen Salmonella typhimurium. In vitro experiments suggested that innate IgA in pIgR−/− serum bound S. typhimurium in a cross-reactive manner which inhibited epithelial cell invasion. Using a “natural” infection model, we demonstrated that pIgR−/− mice are profoundly sensitive to infection with S. typhimurium via the fecal-oral route and, moreover, shed more bacteria that readily infected other animals. These results imply an important evolutionary role for innate SAbs in protecting both the individual and the herd against infections, and suggest that the major role of SAbs may be to prevent the spread of microbial pathogens throughout the population, rather than protection of local mucosal surfaces

Coupled genomic evolutionary histories as signatures of organismal innovations in cephalopods: co-evolutionary signatures across levels of genome organization may shed light on functional linkage and origin of cephalopod novelties

© The Author(s), 2019. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Ritschard, E. A., Whitelaw, B., Albertin, C. B., Cooke, I. R., Strugnell, J. M., & Simakov, O. Coupled genomic evolutionary histories as signatures of organismal innovations in cephalopods: co-evolutionary signatures across levels of genome organization may shed light on functional linkage and origin of cephalopod novelties. BioEssays, 41, (2019): 1900073, doi: 10.1002/bies.201900073.How genomic innovation translates into organismal organization remains largely unanswered. Possessing the largest invertebrate nervous system, in conjunction with many species‐specific organs, coleoid cephalopods (octopuses, squids, cuttlefishes) provide exciting model systems to investigate how organismal novelties evolve. However, dissecting these processes requires novel approaches that enable deeper interrogation of genome evolution. Here, the existence of specific sets of genomic co‐evolutionary signatures between expanded gene families, genome reorganization, and novel genes is posited. It is reasoned that their co‐evolution has contributed to the complex organization of cephalopod nervous systems and the emergence of ecologically unique organs. In the course of reviewing this field, how the first cephalopod genomic studies have begun to shed light on the molecular underpinnings of morphological novelty is illustrated and their impact on directing future research is described. It is argued that the application and evolutionary profiling of evolutionary signatures from these studies will help identify and dissect the organismal principles of cephalopod innovations. By providing specific examples, the implications of this approach both within and beyond cephalopod biology are discussed.E.A.R. and O.S. are supported by the Austrian Science Fund (Grant No. P30686‐B29). E.A.R. is supported by Stazione Zoologica Anton Dohrn (Naples, Italy) PhD Program. The authors wish to thank Graziano Fiorito (SZN, Italy), Hannah Schmidbaur (University of Vienna, Austria), Thomas Hummel (University of Vienna, Austria) for many insightful comments and reading of the draft manuscript. The authors would like to apologize to all colleagues whose work has been omitted due to space constraints

Disentangling genetic from environmental effects on phenotypic variability of Southern rock lobster (Jasus edwardsii) postlarvae

Environmental conditions experienced during larval dispersal of marine organisms can determine size-at-settlement of recruits. It is, therefore, not uncommon that larvae undergoing different dispersal histories would exhibit phenotypic variability at recruitment. Here we investigated morphological differences in recently settled southern rock lobster (Jasus edwardsii) recruits, known as pueruli, along a latitudinal and temporal gradient on the east coast of Tasmania, Australia. We further explored whether natural selection could be driving morphological variation. We used double digest restriction-site associated DNA sequencing (ddRADseq) to assess differences in genetic structure of recently settled recruits on the east coast of Tasmania over three months of peak settlement during 2012 (August, September and October). Phenotypic differences in pueruli between sites and months of settlement were observed, with significantly smaller individuals found at the northernmost site. Also, there was a lack of overall genetic divergence; however, significant differences in pairwise FST values between settlement months were observed at the southernmost study site, located at an area of confluence of ocean currents. Specifically, individuals settling into the southernmost earlier in the season were genetically different from those settling later. The lack of overall genetic divergence in the presence of phenotypic variation indicates that larval environmental history during dispersal of J. edwardsii could be a possible driver of the resulting phenotype of settlers

Temporal genetic patterns of diversity and structure evidence chaotic genetic patchiness in a spiny lobster

Population structure of many marine organisms is spatially patchy and varies within and between years, a phenomenon defined as chaotic genetic patchiness. This results from the combination of planktonic larval dispersal and environmental stochasticity. Additionally, in species with bi-partite life, postsettlement selection can magnify these genetic differences. The high fecundity (up to 500,000 eggs annually) and protracted larval duration (12–24 months) and dispersal of the southern rock lobster, Jasus edwardsii, make it a good test species for chaotic genetic patchiness and selection during early benthic life. Here, we used double digest restriction site-associated DNA sequencing (ddRADseq) to investigate chaotic genetic patchiness and postsettlement selection in this species. We assessed differences in genetic structure and diversity of recently settled pueruli across four settlement years and between two sites in southeast Australia separated by approximately 1,000 km. Postsettlement selection was investigated by identifying loci under putative positive selection between recently settled pueruli and postpueruli and quantifying differences in the magnitude and strength of the selection at each year and site. Genetic differences within and among sites through time in neutral SNP markers indicated chaotic genetic patchiness. Recently settled puerulus at the southernmost site exhibited lower genetic diversity during years of low puerulus catches, further supporting this hypothesis. Finally, analyses of outlier SNPs detected fluctuations in the magnitude and strength of the markers putatively under positive selection over space and time. One locus under putative positive selection was consistent at both locations during the same years, suggesting the existence of weak postsettlement selection