The sound of violets: the ethnographic potency of poetry?

This paper takes the form of a dialogue between the two authors, and is in two halves, the first half discursive and propositional, and the second half exemplifying the rhetorical, epistemological and metaphysical affordances of poetry in critically scrutinising the rhetoric, epistemology and metaphysics of educational management discourse. Phipps and Saunders explore, through ideas and poems, how poetry can interrupt and/or illuminate dominant values in education and in educational research methods, such as: • alternatives to the military metaphors – targets, strategies and the like – that dominate the soundscape of education; • the kinds and qualities of the cognitive and feeling spaces that might be opened up by the shifting of methodological boundaries; • the considerable work done in ethnography on the use of the poetic: anthropologists have long used poetry as a medium for expressing their sense of empathic connection to their field and their subjects, particularly in considering the creativity and meaning-making that characterise all human societies in different ways; • the particular rhetorical affordances of poetry, as a discipline, as a practice, as an art, as patterned breath; its capacity to shift phonemic, and therewith methodological, authority; its offering of redress to linear and reductive attempts at scripting social life, as always already given and without alternative

Learning from the children : exploring preschool children's encounters with ICT at home

This paper is an account of our attempts to understand preschool children's experiences with information and communication technologies (ICT) at home. Using case study data, we focus on what we can learn from talking directly to the children that might otherwise have been overlooked and on describing and evaluating the methods we adopted to ensure that we maximised the children's contributions to the research. By paying attention to the children's perspectives we have learned that they are discriminating users of ICT who evaluate their own performances, know what gives them pleasure and who differentiate between operational competence and the substantive activities made possible by ICT

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.

BACKGROUND: Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly-Xaa-Yaa amino acid sequence repeat region of the molecule, mRNA missplicing or deletions/duplications that typically leaves the message in-frame. Clinical features include myopia, retinal detachment, craniofacial, joint, and hearing problems. Fibrochondrogenesis is also a COL11A1 related disorder, but here disease-associated variants are recessive and may be either null alleles or substitutions of glycine, and the condition is usually lethal in infancy. METHODS: The patient was assessed in the NHS England Stickler syndrome diagnostic service. DNA from the patient and family were analyzed with Next Generation Sequencing on a panel of genes known to cause Stickler Syndrome. The effect of sequence variants was assessed using minigene analysis. Allele-specific RT-PCR was performed. RESULTS: This patient had clinical type 2 Stickler syndrome but with severe hearing loss and severe ocular features including retinal atrophy and retinal tears in childhood. We identified a de novo in frame deletion of COL11A1 (c.4109_4126del) consistent with dominantly inherited Stickler syndrome but also a second inherited variant (c.1245+2T>C), on the other allele, affecting normal splicing of COL11A1 exon 9. CONCLUSION: Exon 9 of COL11A1 is alternatively expressed and disease causing changes affecting only this exon modify the phenotype resulting from biallelic COL11A1 disease-associated variants and, instead of fibrochondrogenesis, produce a form of Stickler syndrome with severe hearing loss. Disease phenotypes from de novo pathogenic variants can be modified by inherited recessive variants on the other allele. This highlights the need for functional and family analysis to confirm the mode of inheritance in COL11A1-related disorders, particularly for those variants that may alter normal pre-mRNA splicing

Implications of Cognitive Load for Hypothesis Generation and Probability Judgment

We tested the predictions of HyGene (Thomas et al., 2008) that both divided attention at encoding and judgment should affect the degree to which participants’ probability judgments violate the principle of additivity. In two experiments, we showed that divided attention during judgment leads to an increase in subadditivity, suggesting that the comparison process for probability judgments is capacity limited. Contrary to the predictions of HyGene, a third experiment revealed that divided attention during encoding leads to an increase in later probability judgment made under full attention. The effect of divided attention during encoding on judgment was completely mediated by the number of hypotheses participants generated, indicating that limitations in both encoding and recall can cascade into biases in judgments

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investigate a variant in the gene encoding growth factor BMP4 in a family with Stickler syndrome with associated renal dysplasia. Next generation sequencing of the coding region of COL2A1, COL11A1 and a panel of genes associated with congenital anomalies of the kidney and urinary tract (CAKUT) was performed. A novel heterozygous BMP4 variant causing a premature stop codon, c. 130G>T, p.(Gly44Ter), which segregated with clinical features of Stickler syndrome in multiple family members, was identified. No variant affecting gene function was detected in COL2A1 or COL11A1. Skin fibroblasts were cultured with and without emetine, and the mRNA extracted and analysed by Sanger sequencing to assess whether the change was causing nonsense-mediated decay. Nonsense-mediated decay was not observed from the extracted BMP4 mRNA. BMP4 is a growth factor known to contribute to eye development in animals, and gene variants in humans have been linked to microphthalmia/anophthalmia as well as CAKUT. The variant identified here further demonstrates the importance of BMP4 in eye development. This is the first report of a BMP4 DNA variant causing Stickler syndrome, and we suggest BMP4 be added to standard diagnostic gene panels for this condition

Evaluation of Three Primary Teachers’ Approaches to Teaching Scientific Concepts in Persuasive Ways

The research set out in this paper seeks to develop pedagogical knowledge regarding how persuasive teaching approaches can be developed in primary science classrooms. To achieve this, the paper examines three case studies in which the teachers have been charged to develop and implement teaching strategies designed to persuade their children of the usefulness and validity of target scientific concepts. The analysis probes the teachers’ choice of contexts and patterns of discourse using criteria drawn from the sociocultural literature. Outcomes of the study exemplify how the teachers’ choices of learning contexts fail to emphasise the functionality of the target concepts and as a consequence scant rewards are provided for the children to participate actively in conceptually rich discourse. The final part of the paper explores how the development of what the author calls theme-specific plots, could be used to help teachers to stage teaching and learning performances which emphasise the functionality of specific explanatory models

Clinical utility gene card for : inherited optic neuropathies including next-generation sequencing-based approaches

Non peer reviewe

PAPSS2‐related brachyolmia : clinical and radiological phenotype in 18 new cases

Brachyolmia is a skeletal dysplasia characterized by short spine‐short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity. Eight patients presented prenatally with short femora, whereas later in childhood their short‐spine phenotype emerged. We observed the same pattern of changing skeletal proportion in other patients. The radiological findings included platyspondyly, irregular end plates of the elongated vertebral bodies, narrow disc spaces and short over‐faced pedicles. In the limbs, there was mild shortening of femoral necks and tibiae in some patients, whereas others had minor epiphyseal or metaphyseal changes. In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients. Bi‐parental inheritance was established where possible. Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across continents and may be under‐recognized in infancy. This condition should be considered in the differential diagnosis of short femora presenting in the second trimester