An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians

BACKGROUND: Multiple sclerosis (MS) is a disorder of the central nervous system (CNS) characterised by inflammation and neuronal degeneration. It is believed to result from the complex interaction of a number of genes, each with modest effect. Chemokines are vital to the migration of cells to sites of inflammation, including the CNS, and many are implicated in MS pathogenesis. Most of the CC chemokine genes are encoded in a cluster on chromosome 17q11.2-12, which has been identified in a number of genome wide screens as being potentially associated with MS. METHODS: We conducted a two-stage analysis to investigate the chemokine gene cluster for association with MS. After sequencing the chemokine genes in several DNA pools to identify common polymorphisms, 12 candidate single-nucleotide polymorphisms (SNPs) were genotyped in a cohort of Australian MS trio families. RESULTS: Marginally significant (uncorrected) transmission distortion was identified for four of the SNPs after stratification for several factors. We also identified marginally significant (uncorrected) transmission distortion for haplotypes encompassing the CCL2 and CCL11 genes, using two independent cohorts, which was consistent with recent reports from another group. CONCLUSION: Our results implicate several chemokines as possibly being associated with MS susceptibility, and given that chemokines and their receptors are suitable targets for therapeutic agents, further investigation is warranted in this region

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning

Applied screening tests for the detection of superior face recognition.

In recent years there has been growing interest in the identification of people with superior face recognition skills, for both theoretical and applied investigations. These individuals have mostly been identified via their performance on a single attempt at a tightly controlled test of face memory-the long form of the Cambridge Face Memory Test (CFMT+). The consistency of their skills over a range of tests, particularly those replicating more applied policing scenarios, has yet to be examined systematically. The current investigation screened 200 people who believed they have superior face recognition skills, using the CFMT+ and three new, more applied tests (measuring face memory, face matching and composite-face identification in a crowd). Of the sample, 59.5% showed at least some consistency in superior face recognition performance, although only five individuals outperformed controls on overall indices of target-present and target-absent trials. Only one participant outperformed controls on the Crowds test, suggesting that some applied face recognition tasks require very specific skills. In conclusion, future screening protocols need to be suitably thorough to test for consistency in performance, and to allow different types of superior performer to be detected from the outset. Screening for optimal performers may sometimes need to directly replicate the task in question, taking into account target-present and target-absent performance. Self-selection alone is not a reliable means of identifying those at the top end of the face recognition spectrum

Solving the border control problem: evidence of enhanced face matching in individuals with extraordinary face recognition skills.

Photographic identity documents (IDs) are commonly used despite clear evidence that unfamiliar face matching is a difficult and error-prone task. The current study set out to examine the performance of seven individuals with extraordinary face recognition memory, so called “super recognisers” (SRs), on two face matching tasks resembling border control identity checks. In Experiment 1, the SRs as a group outperformed control participants on the “Glasgow Face Matching Test”, and some case-by-case comparisons also reached significance. In Experiment 2, a perceptually difficult face matching task was used: the “Models Face Matching Test”. Once again, SRs outperformed controls both on group and mostly in case-by-case analyses. These findings suggest that SRs are considerably better at face matching than typical perceivers, and would make proficient personnel for border control agencies

Independence of face identity and expression processing: exploring the role of motion

According to the classic Bruce and Young (1986) model of face recognition, identity and emotional expression information from the face are processed in parallel and independently. Since this functional model was published, a growing body of research has challenged this viewpoint and instead support an interdependence view. In addition, neural models of face processing (Haxby, Hoffman & Gobbini, 2000) emphasise differences in terms of the processing of changeable and invariant aspects of faces. This article provides a critical appraisal of this literature and discusses the role of motion in both expression and identity recognition and the intertwined nature of identity, expression and motion processing. We conclude, by discussing recent advancements in this area and research questions that still need to be addressed

The rehabilitation of face recognition impairments: A critical review and future directions

While much research has investigated the neural and cognitive characteristics of face recognition impairments (prosopagnosia), much less work has examined their rehabilitation. In this paper, we present a critical analysis of the studies that have attempted to improve face-processing skills in acquired and developmental prosopagnosia, and place them in the context of the wider neurorehabilitation literature. First, we examine whether neuroplasticity within the typical face-processing system varies across the lifespan, in order to examine whether timing of intervention may be crucial. Second, we examine reports of interventions in acquired prosopagnosia, where training in compensatory strategies has had some success. Third, we examine reports of interventions in developmental prosopagnosia, where compensatory training in children and remedial training in adults have both been successful. However, the gains are somewhat limited-compensatory strategies have resulted in labored recognition techniques and limited generalization to untrained faces, and remedial techniques require longer periods of training and result in limited maintenance of gains. Critically, intervention suitability and outcome in both forms of the condition likely depends on a complex interaction of factors, including prosopagnosia severity, the precise functional locus of the impairment, and individual differences such as age. Finally, we discuss future directions in the rehabilitation of prosopagnosia, and the possibility of boosting the effects of cognitive training programmes by simultaneous administration of oxytocin or non-invasive brain stimulation. We conclude that future work using more systematic methods and larger participant groups is clearly required, and in the case of developmental prosopagnosia, there is an urgent need to develop early detection and remediation tools for children, in order to optimize intervention outcome. © 2014 Bate and Bennetts

An in-depth cognitive examination of individuals with superior face recognition skills

Previous work has reported the existence of "super-recognisers" (SRs), or individuals with extraordinary face recognition skills. However, the precise underpinnings of this ability have not yet been investigated. In this paper we examine (a) the face-specificity of super recognition, (b) perception of facial identity in SRs, (c) whether SRs present with enhancements in holistic processing and (d) the consistency of these findings across different SRs. A detailed neuropsychological investigation into six SRs indicated domain-specificity in three participants, with some evidence of enhanced generalised visuo-cognitive or socio-emotional processes in the remaining individuals. While superior face-processing skills were restricted to face memory in three of the SRs, enhancements to facial identity perception were observed in the others. Notably, five of the six participants showed at least some evidence of enhanced holistic processing. These findings indicate cognitive heterogeneity in the presentation of superior face recognition, and have implications for our theoretical understanding of the typical face-processing system and the identification of superior face-processing skills in applied settings

A case of periodic fever and persistent splenomegaly in a 2-year-old boy

We report an unusual case of periodic fever associated with persistent splenomegaly in a 2-year-old boy. Febrile episodes occurred at regular 2 weekly intervals and each lasted for 1–2 days. Following resolution of the fever on each occasion, the patient developed neck stiffness of 1–2 days duration. The periodic febrile episodes, as well as the splenomegaly, spontaneously resolved 9 months after the onset of disease. Infectious and malignant causes were ruled out as far as possible. This patient’s clinical features are unusual and do not match any known category of periodic fevers in childhood. We believe this case highlights the diagnostic challenges periodic fevers commonly represent