Doing talk about speech : a study of speech/language therapists and phonologically disordered children working together.

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'n Marxisties-feministiese ondersoek van Wilma Stockenström se roman, Die kremetartekspedisie

Chapter is an exploration of the meanings which may underly the title of this novel. I have tried initially to establish what kind of "expedition" is undertaken, and have come to the conclusion that "expedition" has a multidimensional meaning, that it implies a search, an expedition into different things: an expedition to the city of rose-quartz; the slave woman's expeditions from the baobab tree and back; an inner expedition to gain self-knowledge; an expedition into womanhood; an expedition into the history of Africa, into religion, into language. The second part of the chapter examines the nature of "baobab", since this tree, like the "Tree of Life", is regarded as one growing upside-down. It is this upside-down nature of the tree which led me to believe that many existing stereotypes and myths are turned upside-down in the novel: about slaves, about woman, language, the Afrikaans literary tradition, the "traditional" structure of the novel, culture transcending nature, the slave woman's language. In chapter 2 I have examined only one of these expeditions, viz. the slave woman's inner expeditions consisting of her experiences as a slave and her journeys of reminiscence. These journeys at the same time embrace all the other expeditions. Her inner expeditions are signified by a number of codes, which fulfil literally the function of processes of knowledge, of self- knowledge, as well as of systems in which meaning is contained. By undertaking this inner expedition, the woman gains greater clarity of vision concerning her own existence and the existence of man/woman in general. Chapter 3 deals mainly with the concept of possession/ownership, which results in two diametrically opposed groups: the owner class and the owned class. The peculiar institution of slavery has given rise to these two irreconcilable groups, and therefore a brief history of slavery is included in this chapter. The slave woman is initially one of the owned class, but through indoctrination, she too aspires to become a member of the owner class. In the second half of the chapter, then, the woman is discussed as owner. Her position becomes a reflection of the position of her owners, to illustrate the peculiarity of the capitalist system in which there will always be the rulers and the subjects, the oppressor and the oppressed, the owner and the owned

Accessory renal arteries in a Caribbean population: a computed tomography based study

INTRODUCTION: The commonest variation to the classic anatomic description of renal arterial supply is the presence of accessory renal arteries. The incidence varies widely according to ethnicity. There is no data on the prevalence of these anomalies in persons of Caribbean ethnicity. METHODS: All CT scans done over two years from July 1, 2010 to June 30, 2012 were retrospectively evaluated. The anatomy of the renal arterial supply was reported from these studies and the anatomy of accessory renal arteries was documented. RESULTS: There were 302 CT scans evaluated and accessory renal arteries were present in 109/302 (36.1%) CT scans, 95% confidence interval 30.6%, 41.4%. There were 71/309 (23.5%) patients with accessory arteries on the left and 54/309 (17.9%) had them on the right (p 0.087). Of these, 16 (14.7%) patients had bilateral accessory renal arteries present. The most common origin for the accessory arteries was the abdominal aorta in 108 (99.1%) cases and in 1 case the accessory artery arose from the coeliac trunk. There were 80 left sided accessory renal arteries: 17 (21.3%) upper polar and 27 (33.8%) lower polar arteries. Of 62 right sided accessory arteries, 14 (22.6%) were upper polar and 26 (42%) were lower polar arteries. CONCLUSION: This is the first population-based report of anatomic anomalies in renal arterial supply in a Caribbean population. These are important findings that may affect vascular and urologic procedures on persons of Caribbean ethnicity

Intrinsic connectivity network disruption in progressive supranuclear palsy

Objective Progressive supranuclear palsy (PSP) has been conceptualized as a large-scale network disruption, but the specific network targeted has not been fully characterized. We sought to delineate the affected network in patients with clinical PSP. Methods Using task-free functional magnetic resonance imaging, we mapped intrinsic connectivity to the dorsal midbrain tegmentum (dMT), a region that shows focal atrophy in PSP. Two healthy control groups (1 young, 1 older) were used to define and replicate the normal connectivity pattern, and patients with PSP were compared to an independent matched healthy control group on measures of network connectivity. Results Healthy young and older subjects showed a convergent pattern of connectivity to the dMT, including brainstem, cerebellar, diencephalic, basal ganglia, and cortical regions involved in skeletomotor, oculomotor, and executive control. Patients with PSP showed significant connectivity disruptions within this network, particularly within corticosubcortical and cortico-brainstem interactions. Patients with more severe functional impairment showed lower mean dMT network connectivity scores. Interpretation This study defines a PSP-related intrinsic connectivity network in the healthy brain and demonstrates the sensitivity of network-based imaging methods to PSP-related physiological and clinical changes. Ann Neurol 2013;73:603-61

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.

Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. SVs can cause a wide range of genetic diseases and are prevalent in rare developmental disorders (DDs). Individuals presenting with DDs are often referred for diagnostic testing with chromosomal microarrays (CMAs) to identify large copy-number variants (CNVs) and/or with single-gene, gene-panel, or exome sequencing (ES) to identify single-nucleotide variants, small insertions/deletions, and CNVs. However, individuals with pathogenic SVs undetectable by conventional analysis often remain undiagnosed. Consequently, we have developed the tool InDelible, which interrogates short-read sequencing data for split-read clusters characteristic of SV breakpoints. We applied InDelible to 13,438 probands with severe DDs recruited as part of the Deciphering Developmental Disorders (DDD) study and discovered 63 rare, damaging variants in genes previously associated with DDs missed by standard SNV, indel, or CNV discovery approaches. Clinical review of these 63 variants determined that about half (30/63) were plausibly pathogenic. InDelible was particularly effective at ascertaining variants between 21 and 500 bp in size and increased the total number of potentially pathogenic variants identified by DDD in this size range by 42.9%. Of particular interest were seven confirmed de novo variants in MECP2, which represent 35.0% of all de novo protein-truncating variants in MECP2 among DDD study participants. InDelible provides a framework for the discovery of pathogenic SVs that are most likely missed by standard analytical workflows and has the potential to improve the diagnostic yield of ES across a broad range of genetic diseases