Name-calling by a child diagnosed with asperger’s syndrome

Rendle-Short, Wilkinson, and Danby show how social interaction is directly relevant to maintaining friendships, mental health and well-being, and supportive peer relations. Using conversation analysis, the chapter focuses on conversational participants’ pursuit of affiliation and intimacy from a language as action perspective. It focuses on the use of derogatory naming practices by a 10-year-old girl diagnosed with Asperger’s Syndrome. The analysis shows how derogatory address terms, part of a wider pattern of behaviour evident in this child’s interaction, result in behaviour that might be thought of as impolite or lacking in restraint. It also illustrates how a single case study can draw attention to the context-specific nature of interaction when working with children with Asperger’s Syndrome. The chapter contributes to our understanding of the difficulty in pinpointing, with precision and with clear evidence, what counts as a ‘social interaction difficulty’ due to the context specific nature of interaction.

Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation

Background Premature aging syndromes recapitulate many aspects of natural aging and provide an insight into this phenomenon at a molecular and cellular level. The progeria syndromes appear to cause rapid aging through disruption of normal nuclear structure. Recently, a coding mutation (c.34G > A [p.A12T]) in the Barrier to Autointegration Factor 1 (BANF1) gene was identified as the genetic basis of Néstor-Guillermo Progeria syndrome (NGPS). This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure. Results Here we demonstrate that the BANF1 A12T protein is indeed correctly folded, stable and that the observed phenotype, is likely due to the disruption of the DNA binding surface of the A12T mutant. We demonstrate, using biochemical assays, that the BANF1 A12T protein is impaired in its ability to bind DNA while its interaction with nuclear envelope proteins is unperturbed. Consistent with this, we demonstrate that ectopic expression of the mutant protein induces the NGPS cellular phenotype, while the protein localizes normally to the nuclear envelope. Conclusions Our study clarifies the role of the A12T mutation in NGPS patients, which will be of importance for understanding the development of the disease.

Permanent shift: the topology of Didier Vermeiren's Cariatide à la Pierre

Photographic documentation of sculpture produces significant consequences for the way in which sculptural space is conceived. When viewed as discrete mediums the interaction of the photograph and its sculptural subject is always framed by notions of loss. However, when taken as a composite system, the sculpture-photograph proposes a new ontology of space. In place of the fixity of medium, we can observe a topology at play: a theory drawn from mathematics in which space is understood not as a static field but in terms of properties of connectedness, movement and differentiation. Refracted through the photographic medium, sculpture becomes not a field of fixed points in space, but rather as a fluid set of relations - a continuous sequence of multiple ‘surfaces’, a network of shifting views. This paper will develop a topological account of studio practice through an examination of the work of the contemporary Belgian sculptor Didier Vermeiren (b. 1951). Since the 1980s, Vermeiren has made extensive use of photography in his sculptural practice. By analysing a series of iterations of his work Cariatide à la Pierre (1997-1998), this paper proposes that Vermeiren’s use of photography reveals patterns of connection that expand and complicate the language of sculpture, while also emphasising the broader topology of the artist’s practice as a network of ‘backward glances’ to previous works from the artist’s oeuvre and the art-historical canon. In this context, photography is not simply a method of documentation, but rather a means of revealing the intrinsic condition of sculpture as medium shaped by dynamic patterns of connection and change. In Vermeiren’s work the sculpture-photograph, has a composite identity that exceeds straightforward categories of medium. In their place, we can observe a practice based upon the complex interactions of objects whose ontology is always underpinned by a certain contingency. It is in this fundamental mobility, that the topology of Vermeiren’s practice can be said to rest.

Devenir plurilingue : la perspective des littératies multiples

Abstract - English Multiple literacies refers to reading, reading the world and self. This article proposes an understanding of reading that goes beyond its definition in psychology and applied linguistics. This longitudinal project is interested in a conceptualisation of what reading is, how it functions and what it produces in becoming multilingual. Reading is explored through the lens of an empirical study involving five female pupils from senior Kindergarten to Grade 3 observed and interviewed in relation to activities at school and at home. The study took place in Ottawa schools where French is the sole language of instruction. Reading in the context of multiple literacies is conceptualised to disrupt /deterritorialise and to be immanent, offering the potentiality to go beyond what is to what could be. Becoming multilingual is a continuous movement involving networks of rhizomatic connections and reading the world and self. Résumé - Francais Les littératies multiples se réfèrent à la lecture, la lecture du monde et la lecture de soi. Cet article propose une compréhension de la lecture qui dépasse sa définition usuelle en psychologie et en linguistique appliquée. Ce projet longitudinal porte sur la conceptualisation de la lecture, son fonctionnement et ce qu’elle produit dans le devenir plurilingue. La lecture est examinée selon l’optique d’une étude empirique durant laquelle cinq écolières du jardin d’enfants à la 3e année étaient observées et interviewées par rapport à des activités à l’école et à la maison. L’étude a eu lieu dans des écoles d’Ottawa dont la seule langue d’enseignement est le français. Dans le contexte des littératies multiples, la lecture est conceptualisée comme étant perturbatrice/déterritorialisante et immanente. Elle offre la potentialité d’aller au-delà de ce qui est vers ce qui pourrait être. Devenir plurilingue est un mouvement continu faisant appel à des réseaux de connexions rhizomatiques et à la lecture du monde et de soi.

Ocular refractive and biometric characteristics in patients with tilted disc syndrome

BACKGROUND Tilted disc syndrome (TDS) is associated with characteristic ocular findings. The purpose of this study was to evaluate the ocular, refractive, and biometric characteristics in patients with TDS. METHODS This case-control study included 41 eyes of 25 patients who had established TDS and 40 eyes of 20 healthy control subjects. All participants underwent a complete ocular examination, including refraction and analysis using Fourier transformation, slit lamp biomicroscopy, pachymetry, keratometry, and ocular biometry. Corneal topography examinations were performed in the syndrome group only. RESULTS There were no significant differences in spherical equivalent (P = 0.13) and total astigmatism (P = 0.37) between groups. However, mean best spectacle-corrected visual acuity (Log Mar) was significantly worse in TDS patients (P = 0.003). The lenticular astigmatism was greater in the syndrome group, whereas the corneal component was greater in controls (P = 0.059 and P = 0.028, respectively). The measured biometric features were the same in both groups, except for the lens thickness and lens-axial length factor, which were greater in the TDS group (P = 0.007 and P = 0.055, respectively). CONCLUSIONS Clinically significant lenticular astigmatism, more oblique corneal astigmatism, and thicker lenses were characteristic findings in patients with TDS.

Ocular refractive and biometric characteristics in patients with tilted disc syndrome

Purpose: To evaluate the ocular refractive and biometric characteristics in patients with tilted disc syndrome (TDS). Methods: This case-control study comprised 41 eyes of 25 patients with established TDS and forty eyes of 20 age- and sex-matched healthy control subjects. All had a complete ocular examination including refraction and analysis using Fourier transformation, slit lamp biomicroscopy, pachymetry keratometry, and ocular biometry. Corneal topography examinations were performed in the syndrome group only. Results: There were no significant differences in spherical equivalent (p = 0.334) and total astigmatism (p= 0.246) between groups. However, mean best spectacular corrected visual acuity was significantly worse in TDS patients (P < 0.001). The lenticular astigmatism was significantly greater in the syndrome group, while the corneal component was greater in the controls (p = 0.004 and p = 0.002, respectively). The measured biometric features were the same in both groups, except for the lens thickness, relative lens position, and lens-axial length factor which were greater in the TDS group (p = 0.002, p = 0.015, and p = 0.025, respectively). Conclusions: Clinically significant lenticular astigmatism, more oblique corneal astigmatism, and thicker lens were characteristic findings in patients with TDS.

Efectividad clínica de la intervención terapéutica sobre la mano con realidad virtual en sujetos hemipléjicos: revisión sistemática

Objetivo Revisar de forma sistemática y realizar una evaluación critica de las diferentes publicaciones existentes sobre el uso de la realidad virtual como elemento rehabilitador en la mano. Estrategias de búsqueda Se ha realizado una búsqueda en la base de datos Medline completada con búsquedas en Google Schoolar. Se ha limitado la búsqueda a 10 años de extensión, idiomas: inglés y español. Selección de estudios: se ha centrado sobre aquellos artículos relacionados con la realidad virtual y la rehabilitación funcional de la mano en el accidente cerebrovascular. Síntesis de resultados Debido a la falta de homogeneidad, no ha sido posible evaluar metodológicamente mediante instrumento Caspe. Se detectaron 200 artículos de los cuales 12 cumplen los criterios de selección de los mismos. Dichos artículos han sido agrupados en relación con diferentes criterios como son: tipo de estudio, sistema de evaluación utilizado, periféricos usados o resultados obtenidos entre otros. Conclusiones No se ha obtenido una homogeneidad conjunta sobre los artículos, por ello se debe continuar realizando avances en este ámbito. A pesar de ello, los entornos de realidad virtual pueden ser un instrumento válido para la recuperación funcional de la mano en los accidentes cerebrovasculares, no siendo aptos como elemento único rehabilitador. Abstract in English Objective To make a systematic review and critical assessment of the different existing publications on the use of virtual reality as an element in rehabilitation of the hand. Search Method A search was made in the Medline database completed with searches in Google Schoolar. The search was limited to a period of ten years, and English and Spanish languages. Study selection The study was focused on those articles related to virtual reality and the functional rehabilitation of the hand in stroke. Synthesis of results It was not possible to perform a methodological evaluation using the Caspe instrument due to lack of homogeneity. Two hundred 200 articles were found. Of these, 12 met the criteria for their selection. These articles were grouped in relation to different criteria such as: type of study, assessment system used, hardware used or outcomes results obtained, among others. Conclusions Joint homogeneity was not obtained for the articles. Therefore, progress must still be made in this area. In spite of this, virtual reality environments can be a valid tool for functional recovery of the hand in strokes but they are not adequate for use as a single rehabilitative treatment element.

Contribución de la fuerza y el dolor en la función del paciente con artrosis trapecio metacarpiana. Estudio transversal

Objetivo Establecer una posible relación entre la fuerza (Jamar), el dolor (EVA) y la capacidad funcional referida por el paciente (DASH) determinando en qué grado influyen unas en otras. Estudio observacional transversal analítico. Participantes Muestra de 72 pacientes que presentaban una artrosis trapecio metacarpiana grado 2-3 de Eaton. Los pacientes fueron reclutados cuando acudían a la Unidad de Cirugía de mano. Método Se realizaron mediciones de fuerza de agarre, pinza, valoración del dolor y funcionalidad, y se establecieron las correlaciones entre cada una de ellas. Resultados El modelo más significativo para la función (R2 =0.83) incluye la variable dolor y la fuerza. Pero es la fuerza punta contra punta la que presenta una mayor correlación con el cuestionario DASH (B-estandarizado: –57). Respecto al dolor, influye en todas las mediciones de fuerza realizadas con el dinamómetro, siendo también la fuerza de la pinza punta contra punta la que presenta una mayor correlación. Conclusiones Los hallazgos corroboran que existe una correlación significativa entre la función referida por el paciente y variables que podemos medir en consulta, como la fuerza del puño y la pinza. Pero también esta correlación es significativa entre las variables función y dolor entre sí, pero es la pinza punta contra punta la que presenta una mayor asociación con el cuestionario DASH. Abstract in English Objective To assess the relationship between muscle strength (Jama), and pain (VAS) levels with hand function (DASH) in patients with trapeziometarcapal osteoarthritis. Cross-sectional study. Participants Sample of 72 patients with osteoarthritis stage 2-3 (Eaton) and trapeziometacarpal osteoarthritis. Patients were recruited when they came to the Hand Surgery Unit. Method Grip strength, pinch, pain and hand function were measured, and correlation and regression coefficients between them were obtained. Results For function, the most significant model (R2 = 0.83) included pain and strength. But it is tip to tip pinch force which has a stronger relationship with DASH (Standardized B: –57) questionnaire. Pain also influenced strength measured with the dynamometer but it was tip to tip pinch force that was the most affected. Conclusions Findings confirm that there is a significant correlation between function referred by the patient and variables that can be measured in the clinic such as grip strength and pinch. The correlation between pain intensity and function was also significant, but tip to tip pinch strength had the greatest impact on the function.

Etapas del cambio en personas inactivas tras un programa de promoción de la actividad física en Atención Primaria

Objetivo El objetivo del estudio fue evaluar las Etapas del cambio en relación con la actividad física y el estado de salud general entre personas que participaron en un Programa de promoción de la actividad física (PPAF) de 12 semanas frente a un grupo control. Diseño Ensayo clínico aleatorizado. Participantes Noventa y ocho personas inactivas de ambos sexos con una edad media de 62,82 años procedentes de 2 centros de Atención Primaria del Distrito Sanitario Costa del Sol. Intervención Un PPAF organizado en grupos y siguiendo los criterios del Colegio Americano de Medicina del Deporte, 2 sesiones semanales de 60 min durante 12 semanas. Mediciones principales La variable principal de resultado fue resistencia al cambio en relación con la actividad física. La variable secundaria fue el estado de salud general (componentes físicos y mentales), determinado con el cuestionario de salud general SF12. Resultados Se encontraron diferencias significativas en las etapas del cambio a favor del grupo experimental (p < 0,05). No se encontraron diferencias estadísticamente significativas entre grupos después de la intervención en el estado general de salud. Conclusión Las etapas del cambio se modificaron en las personas inactivas que realizaron el PPAF en Atención Primaria. Futuros estudios son necesarios para identificar qué factores del entorno de los participantes influyen en la resistencia al cambio de la actividad física. Abstract Objective This study has aimed to evaluate the stages of change in relation to physical activity and overall health status among persons who participated in a 12-week Physical activity promotion program (PAPP) compared to a control group. Design Randomized clinical trial. Participants The study included 98 inactive persons of both sexes with a mean age of 62.82 years from 2 of Primary Care Centers of the Malaga Health Care District. Interventions A PAPP organized in groups according to the American College of Sports Medicine criteria including two weekly sessions of 60 minutes each for 3 months. Main measures The primary outcome was to assess resistance to change in relation to physical activity. The secondary variable was overall health (physical and mental components) determined with the SF12 general health questionnaire. Results Significant differences were found in the stages of change (P<.05). There were no significant differences found in general health status improvement in regards to the initial assessment. Conclusion The stages of change were modified in the inactive persons who carried out the PAPP in Primary Care. Future studies are needed to identify which environmental factors influence the resistance to change in physical activity of the participants.

Mapping cortical change in Alzheimer's disease, brain development, and schizophrenia

This paper describes algorithms that can identify patterns of brain structure and function associated with Alzheimer's disease, schizophrenia, normal aging, and abnormal brain development based on imaging data collected in large human populations. Extraordinary information can be discovered with these techniques: dynamic brain maps reveal how the brain grows in childhood, how it changes in disease, and how it responds to medication. Genetic brain maps can reveal genetic influences on brain structure, shedding light on the nature-nurture debate, and the mechanisms underlying inherited neurobehavioral disorders. Recently, we created time-lapse movies of brain structure for a variety of diseases. These identify complex, shifting patterns of brain structural deficits, revealing where, and at what rate, the path of brain deterioration in illness deviates from normal. Statistical criteria can then identify situations in which these changes are abnormally accelerated, or when medication or other interventions slow them. In this paper, we focus on describing our approaches to map structural changes in the cortex. These methods have already been used to reveal the profile of brain anomalies in studies of dementia, epilepsy, depression, childhood- and adult-onset schizophrenia, bipolar disorder, attention-deficit/hyperactivity disorder, fetal alcohol syndrome, Tourette syndrome, Williams syndrome, and in methamphetamine abusers. Specifically, we describe an image analysis pipeline known as cortical pattern matching that helps compare and pool cortical data over time and across subjects. Statistics are then defined to identify brain structural differences between groups, including localized alterations in cortical thickness, gray matter density (GMD), and asymmetries in cortical organization. Subtle features, not seen in individual brain scans, often emerge when population-based brain data are averaged in this way. Illustrative examples are presented to show the profound effects of development and various diseases on the human cortex. Dynamically spreading waves of gray matter loss are tracked in dementia and schizophrenia, and these sequences are related to normally occurring changes in healthy subjects of various ages.

Superior perilimbal epitheliopathy in recurrent corneal erosion syndrome

Purpose To highlight the finding of occult areas of poor epithelial adhesion in the superior perilimbal cornea in a minority of patients with recalcitrant recurrent corneal erosion syndrome presenting with corneal erosion elsewhere on the corneal surface. Patient population 31 eyes of 31 consecutive patients with corneal erosion undergoing mechanical debridement of the epithelium prior to diamond burr keratectomy for recurrent corneal erosion. Methods Determine the location and incidence of poor epithelial adhesion distant from the initial erosion by use of mechanical debridement with a dry microsponge. Results During debridement, 8 of 31 eyes (25.8%) displayed a large arcuate area of occult dysfunction of adhesion in the superior perilimbal area. None of these patients showed recurrence over a mean of 18 month after diamond burr keratectomy (95% confidence interval 0-36.9%). Conclusion Mechanical debridement with a microsponge identified a significant minority of patients with poor adhesion in the superior perilimbal cornea away from the area of obvious erosion and increased the target area for diamond burr keratectomy. This two pronged approach allowed successful management of this group.

Surgical fusion of early onset severe scoliosis increases survival in the child with rett syndrome: A population based study

Introduction. Rett Syndrome is a rare genetic neurodevelopmental disorder usually affecting females. Scoliosis is a common comorbidity and spinal fusion may be recommended if severe. Little is known about long term outcomes. We examined the impact of spinal fusion on survival and risk of severe lower respiratory tract infection (LRTI) in Rett Syndrome. Methods Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry of Rett Syndrome cases established in 1993, and the Australian Institute of Health and Welfare National Death Index database. An extended Cox regression model was used to estimate the effect of spinal surgery on survival in females who developed severe scoliosis (Cobb angle > 45 degrees). Generalized estimating equation modelling was used to estimate the effect of spinal surgery on the odds of developing severe LRTI. Results Severe scoliosis was identified in 140 cases (60.3%) of whom slightly fewer than half (48.6%) developed scoliosis prior to eight years of age. Scoliosis surgery was performed in 98 (69.0%) of those at a median age of 13 years 3 months (IQR 11 years 5 months – 14 years 10 months). After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (HR 0.30, 95% CI 0.12, 0.74, P = 0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06, 0.52, P = 0.002). Spinal fusion was not associated with reduction in the occurrence of a severe LRTI overall (OR 0.60, 95%CI 0.27, 1.33, P=0.206) but was associated with a large reduction in odds of severe LRTI among those with early onset scoliosis (OR 0.32, 95%CI 0.11, 0.93, P=0.036). Conclusion With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.

A systematic review of axillary web syndrome (AWS)

Introduction Axillary web syndrome (AWS) can result in early post-operative and long-term difficulties following lymphadenectomy for cancer and should be recognised by clinicians. This systematic review was conducted to synthesise information on AWS clinical presentation and diagnosis, frequency, natural progression, grading, pathoaetiology, risk factors, symptoms, interventions and outcomes. Methods Electronic searches were conducted using Cochrane, Pubmed, MEDLINE, CINAHL, EMBASE, AMED, PEDro and Google Scholar until June 2013. The methodological quality of included studies was determined using the Downs and Black checklist. Narrative synthesis of results was undertaken. Results Thirty-seven studies with methodological quality scores ranging from 11 to 26 on a 28-point scale were included. AWS diagnosis relies on inspection and palpation; grading has not been validated. AWS frequency was reported in up to 85.4 % of patients. Biopsies identified venous and lymphatic pathoaetiology with five studies suggesting lymphatic involvement. Twenty-one studies reported AWS occurrence within eight post-operative weeks, but late occurrence of greater than 3 months is possible. Pain was commonly reported with shoulder abduction more restricted than flexion. AWS symptoms usually resolve within 3 months but may persist. Risk factors may include extensiveness of surgery, younger age, lower body mass index, ethnicity and healing complications. Low-quality studies suggest that conservative approaches including analgesics, non-steroidal anti-inflammatory drugs and/or physiotherapy may be safe and effective for early symptom reduction. Conclusions AWS appears common. Current evidence for the treatment of AWS is insufficient to provide clear guidance for clinical practice. Implications for Cancer Survivors Cancer survivors should be informed about AWS. Further investigation is needed into pathoaetiology, long-term outcomes and to determine effective treatment using standardised outcomes.

Prospective external validation of an accelerated (2-h) acute coronary syndrome rule-out process using a contemporary troponin assay

Background: Recently there have been efforts to derive safe, efficient processes to rule out acute coronary syndrome (ACS) in emergency department (ED) chest pain patients. We aimed to prospectively validate an ACS assessment pathway (the 2-Hour Accelerated Diagnostic Protocol to Assess Patients with Chest Pain Symptoms Using Contemporary Troponins as the Only Biomarker (ADAPT) pathway) under pragmatic ED working conditions. Methods: This prospective cohort study included patients with atraumatic chest pain in whom ACS was suspected but who did not have clear evidence of ischaemia on ECG. Thrombolysis in myocardial infarction (TIMI) score and troponin (TnI Ultra) were measured at ED presentation, 2 h later and according to current national recommendations. The primary outcome of interest was the occurrence of major adverse cardiac events (MACE) including prevalent myocardial infarction (MI) at 30 days in the group who had a TIMI score of 0 and had presentation and 2-h TnI assays <99th percentile. Results: Eight hundred and forty patients were studied of whom 177 (21%) had a TIMI score of 0. There were no MI, MACE or revascularization in the per protocol and intention-to-treat 2-h troponin groups (0%, 95% confidence interval (CI) 0% to 4.5% and 0%, 95% CI 0% to 3.8%, respectively). The negative predictive value (NPV) was 100% (95% CI 95.5% to 100%) and 100% (95% CI 96.2% to 100%), respectively. Conclusions: A 2-h accelerated rule-out process for ED chest pain patients using electrocardiography, a TIMI score of 0 and a contemporary sensitive troponin assay accurately identifies a group at very low risk of 30-day MI or MACE.