Economical genotyping of little blue penguin (Eudyptula minor) clades from feather-based DNA

Determination of clade membership is a crucial requirement for many research questions addressing phylogeography, population structure, mating patterns, speciation, and hybridisation. The little blue penguin (Eudyptula minor) can be separated into two deeply divergent clades. However, assigning clade membership in little blue penguins requires molecular methods. Genetic sequencing can be used to identify clade membership but is expensive. Here, we present an economical alternative to the use of sequencing to determine little blue penguin clade membership. We extracted DNA from feathers using a method that produced reasonable quantities of DNA. We then amplified the D-loop section of the mitochondrial control region from total genomic DNA extracts, using the primers 'C L-tRNAglu' and 'D H-Dbox' followed by digestion with the restriction enzyme AluI. When visualised on a gel, distinctive banding patterns clearly indicated clade membership. We sequenced a subset of our samples and verified the accuracy of this method. The methods we present should facilitate little blue penguin research through a cost-effective approach to clade analysis as well as a successful technique to extract DNA from feathers when blood or tissue samples are not available

Exploring joint hypermobility syndrome, developmental coordination disorder and pain

INTRODUCTION Floppy, clumsy, hypermobile children are increasingly referred to occupational and physical therapy under the label of dyspraxia. Motor impairments associated with the umbrella diagnosis of developmental coordination disorder (DCD) have been reported as persisting into adolescence and adulthood and subsequently affecting functional abilities (Cousins and Smyth 2003). Within this heterogeneous condition the underlying mechanisms causing the motor difficulties remains unclear. Ayers (1985) hypothesised that some individuals might have somatosensory processing issues contributing to their poor motor planning and coordination difficulties. Similarities in functional difficulties have been noted in children with a diagnosis of DCD and joint hypermobility syndrome (JHS) (Kirby and Davies 2006). There is limited understanding of the relationship between the two conditions. JHS is a multisystemic inherited connective tissue disorder, in which hypermobile joints, pain, clumsiness, poor proprioception and dislocations are familiar features (Grahame and Hakim 2006; Adib et al 2005). It has been suggested that adults with JHS show poor movement patterns which contribute to biomechanical dysfunction and continuing pain (Clark et al 2009). Pain and disability reported in adults with JHS often leads to anxiety, depression, work incapacity and social isolation (Grahame and Hakim 2006). The purpose of this study was to explore the association between adults with JHS and DCD and long term pain. METHODOLOGY/ METHODS A mixed methods design influenced by a pragmatic paradigm was utilised. Subjects: 90 patients with JHS (18-65 years) recruited from a hypermobility clinic were compared, using a questionnaire, with 113 healthy volunteers (18-65 years) with no pain recruited from a university. Analysis: Quantitative data were described and examined by regression, odds ratios were calculated. Qualitative data was analysed thematically FINDINGS The percentage of subjects who reported DCD in patients with JHS and healthy volunteers were 56% and 19% respectively. A significant association between patients with JHS and DCD was noted, chi square = 30.11, p < .001. Patients with JHS were 6 times [95% CI 2.9 – 10.3] more likely to report DCD than healthy volunteers. Pain was a significant feature with an average of 9.8 pain sites reported (out of a total of 17). Open ended questions revealed many patients recalling pain starting in early childhood and adolescence. DISCUSSION These results suggest a significant association between patients with JHS and DCD and the reporting of long term pain. Early recognition and understanding of the needs of children with DCD who present with somatosensory impairment, pain modulation and JHS is therefore essential. Sensory integration therapy as part of a comprehensive early intervention program has the potential to mitigate long term problems. A multidisciplinary approach which involves health professionals and teachers is also recommended. CONCLUSION This research may be considered an early step in the identification of an association of DCD and JHS. Further studies are required to explore somatosensory processing issues experienced by those with DCD and JHS as this might be an important underlying mechanism

An Exploration of Neurophysiological Symptoms in Patients with Joint Hypermobility Syndrome and their Impact on Quality of Life.

Purpose: The purpose of this study was to explore the prevalence of neurophysiological symptoms in patients with Joint Hypermobility Syndrome (JHS) and their impact on quality of life. Relevance: Clinical experience suggests patients with JHS suffer from neurophysiological symptoms contributing to skill and health impairments affecting quality of life. MethodsA sample of 90 JHS-patients (mean age 34.7 ± 9.9 years), diagnosed according to the Brighton Criteria were compared with 113 healthy volunteers (mean age 35.7 ± 12.9) with no musculoskeletal pain. Neurophysiological symptoms were collected in a self report questionnaire. The Functional Difficulties Questionnaire was used for the assessment of developmental coordination disorder (DCD). A pain chart was employed to collect data relating to musculoskeletal pain. The SF-12 medical outcomes questionnaire was used for assessing quality of life. Analysis: Chi-square was employed to compare group proportions. Continuous numerical data comparisons were analysed using independent sample t-tests. Regression analysis was employed to analyse multiple variables. Results: Patients with JHS were significantly more likely to report the following than healthy volunteers; autonomic symptoms (70%, 12%); gastrointestinal symptoms (71%, 9%); DCD (56%, 19%) and chronic fatigue syndrome (31%, 1%). The mean number of pain sites reported for patients with JHS were 9.83 ± 4.18. Patients with JHS reported significantly lower physical component summary scores (PCS) of the SF-12 than healthy volunteers (p < 0.001). Pain was a significant predictor of reduced PCS of the SF-12 (p < 0.001) in a model that explained 23% of the variance. Conclusions Neurophysiological symptoms were common. Pain was a significant contributor to the health burden of patients with JHS. Research is required to explore the connectivity and implications of these symptoms in relation to the central nervous system. Implications: There is a requirement to acknowledge and understand the multidimensional nature of JHS

Ecosystem carbon 7 dioxide fluxes after disturbance in forests of North America

Disturbances are important for renewal of North American forests. Here we summarize more than 180 site years of eddy covariance measurements of carbon dioxide flux made at forest chronosequences in North America. The disturbances included stand-replacing fire (Alaska, Arizona, Manitoba, and Saskatchewan) and harvest (British Columbia, Florida, New Brunswick, Oregon, Quebec, Saskatchewan, and Wisconsin) events, insect infestations (gypsy moth, forest tent caterpillar, and mountain pine beetle), Hurricane Wilma, and silvicultural thinning (Arizona, California, and New Brunswick). Net ecosystem production (NEP) showed a carbon loss from all ecosystems following a stand-replacing disturbance, becoming a carbon sink by 20 years for all ecosystems and by 10 years for most. Maximum carbon losses following disturbance (g C m−2y−1) ranged from 1270 in Florida to 200 in boreal ecosystems. Similarly, for forests less than 100 years old, maximum uptake (g C m−2y−1) was 1180 in Florida mangroves and 210 in boreal ecosystems. More temperate forests had intermediate fluxes. Boreal ecosystems were relatively time invariant after 20 years, whereas western ecosystems tended to increase in carbon gain over time. This was driven mostly by gross photosynthetic production (GPP) because total ecosystem respiration (ER) and heterotrophic respiration were relatively invariant with age. GPP/ER was as low as 0.2 immediately following stand-replacing disturbance reaching a constant value of 1.2 after 20 years. NEP following insect defoliations and silvicultural thinning showed lesser changes than stand-replacing events, with decreases in the year of disturbance followed by rapid recovery. NEP decreased in a mangrove ecosystem following Hurricane Wilma because of a decrease in GPP and an increase in ER

Understanding Schools and Schooling. (Book Review)

A review of a book written by Clive Chitty (2002 with a useful focus on issues of equity and social justice, including prejudice, discrimination and bullying in secondary schools. Education policy makers need to explore the extent to which it is important to produce interested, motivated and socially balanced young adults. It is well researched and documented

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations

Syndromic ciliopathies and retinal degenerations are large heterogeneous groups of genetic diseases. Pathogenic variants in the CFAP418 gene may cause both disorders, and its protein sequence is evolutionarily conserved. However, the disease mechanism underlying CFAP418 mutations has not been explored. Here, we apply quantitative lipidomic, proteomic, and phosphoproteomic profiling and affinity purification coupled with mass spectrometry to address the molecular function of CFAP418 in retinas. We show that CFAP418 protein binds to lipid metabolism precursor phosphatidic acid (PA) and mitochondrion-specific lipid cardiolipin but does not form a tight and static complex with proteins. Loss of Cfap418 in mice disturbs membrane lipid homeostasis and membrane-protein association, which subsequently causes mitochondrial defects and membrane remodeling abnormalities across multiple vesicular trafficking pathways in photoreceptors, especially the endosomal sorting complexes required for transport (ESCRT) pathway. Ablation of Cfap418 also increases the activity of PA-binding protein kinase Cα in the retina. Overall, our results indicate that membrane lipid imbalance is a pathological mechanism underlying syndromic ciliopathies and retinal degenerations, which is associated with other known causative genes of these diseases