Speech rhythm: a metaphor?

Is speech rhythmic? In the absence of evidence for a traditional view that languages strive to coordinate either syllables or stress-feet with regular time intervals, we consider the alternative that languages exhibit contrastive rhythm subsisting merely in the alternation of stronger and weaker elements. This is initially plausible, particularly for languages with a steep ‘prominence gradient’, i.e. a large disparity between stronger and weaker elements; but we point out that alternation is poorly achieved even by a ‘stress-timed’ language such as English, and, historically, languages have conspicuously failed to adopt simple phonological remedies that would ensure alternation. Languages seem more concerned to allow ‘syntagmatic contrast’ between successive units and to use durational effects to support linguistic functions than to facilitate rhythm. Furthermore, some languages (e.g. Tamil, Korean) lack the lexical prominence which would most straightforwardly underpin prominence alternation. We conclude that speech is not incontestibly rhythmic, and may even be antirhythmic. However, its linguistic structure and patterning allow the metaphorical extension of rhythm in varying degrees and in different ways depending on the language, and that it is this analogical process which allows speech to be matched to external rhythms

Rhythm and Vowel Quality in Accents of English

In a sample of 27 speakers of Scottish Standard English two notoriously variable consonantal features are investigated: the contrast of /m/ and /w/ and non-prevocalic /r/, the latter both in terms of its presence or absence and the phonetic form it takes, if present. The pattern of realisation of non-prevocalic /r/ largely confirms previously reported findings. But there are a number of surprising results regarding the merger of /m/ and /w/ and the loss of non-prevocalic /r/: While the former is more likely to happen in younger speakers and females, the latter seems more likely in older speakers and males. This is suggestive of change in progress leading to a loss of the /m/ - /w/ contrast, while the variation found in non-prevocalic /r/ follows an almost inverse sociolinguistic pattern that does not suggest any such change and is additionally largely explicable in language-internal terms. One phenomenon requiring further investigation is the curious effect direct contact with Southern English accents seems to have on non-prevocalic /r/: innovation on the structural level (i.e. loss) and conservatism on the realisational level (i.e. increased incidence of [r] and [r]) appear to be conditioned by the same sociolinguistic factors

Rhythm in the speech of a person with right hemisphere damage: Applying the pairwise variability index

Although several aspects of prosody have been studied in speakers with right hemisphere damage (RHD), rhythm remains largely uninvestigated. This study compares the rhythm of an Australian English speaker with right hemisphere damage (due to a stroke, but with no concomitant dysarthria) to that of a neurologically unimpaired individual. The speakers' rhythm is compared using the pairwise variability index (PVI) which allows for an acoustic characterization of rhythm by comparing the duration of successive vocalic and intervocalic intervals. A sample of speech from a structured interview between a speech and language therapist and each participant was analysed. Previous research has shown that speakers with RHD may have difficulties with intonation production, and therefore it was hypothesized that there may also be rhythmic disturbance. Results show that the neurologically normal control uses a similar rhythm to that reported for British English (there are no previous studies available for Australian English), whilst the speaker with RHD produces speech with a less strongly stress-timed rhythm. This finding was statistically significant for the intervocalic intervals measured (t(8) = 4.7, p < .01), and suggests that some aspects of prosody may be right lateralized for this speaker. The findings are discussed in relation to previous findings of dysprosody in RHD populations, and in relation to syllable-timed speech of people with other neurological conditions

Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection

<p>Abstract</p> <p>Background</p> <p>Breast cancer is one of the most common diseases affecting women. Inherited susceptibility genes, <it>BRCA1 </it>and <it>BRCA2</it>, are considered in breast, ovarian and other common cancers etiology. <it>BRCA1 </it>and <it>BRCA2 </it>genes have been identified that confer a high degree of breast cancer risk.</p> <p>Objective</p> <p>Our study was performed to identify germline mutations in some exons of <it>BRCA1 </it>and <it>BRCA2 </it>genes for the early detection of presymptomatic breast cancer in females.</p> <p>Methods</p> <p>This study was applied on Egyptian healthy females who first degree relatives to those, with or without a family history, infected with breast cancer. Sixty breast cancer patients, derived from 60 families, were selected for molecular genetic testing of <it>BRCA1 </it>and <it>BRCA2 </it>genes. The study also included 120 healthy first degree female relatives of the patients, either sisters and/or daughters, for early detection of presymptomatic breast cancer mutation carriers. Genomic DNA was extracted from peripheral blood lymphocytes of all the studied subjects. Universal primers were used to amplify four regions of the <it>BRCA1 </it>gene (exons 2,8,13 and 22) and one region (exon 9) of <it>BRCA2 </it>gene using specific PCR. The polymerase chain reaction was carried out. Single strand conformation polymorphism assay and heteroduplex analysis were used to screen for mutations in the studied exons. In addition, DNA sequencing of the normal and mutated exons were performed.</p> <p>Results</p> <p>Mutations in both <it>BRCA1 </it>and <it>BRCA2 </it>genes were detected in 86.7% of the families. Current study indicates that 60% of these families were attributable to <it>BRCA1 </it>mutations, while 26.7% of them were attributable to <it>BRCA2 </it>mutations. Results showed that four mutations were detected in the <it>BRCA1 </it>gene, while one mutation was detected in the <it>BRCA2 </it>gene. Asymptomatic relatives, 80(67%) out of total 120, were mutation carriers.</p> <p>Conclusions</p> <p><it>BRCA1 </it>and <it>BRCA2 </it>genes mutations are responsible for a significant proportion of breast cancer. <it>BRCA </it>mutations were found in individuals with and without family history.</p

Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study

Introduction Mammographic breast density is one of the strongest known risk factors for breast cancer. We present a novel technique for estimating breast density based on 3D T1-weighted Magnetic Resonance Imaging (MRI) and evaluate its performance, including for breast cancer risk prediction, relative to two standard mammographic density-estimation methods.Methods The analyses were based on MRI (n = 655) and mammography (n = 607) images obtained in the course of the UK multicentre magnetic resonance imaging breast screening (MARIBS) study of asymptomatic women aged 31 to 49 years who were at high genetic risk of breast cancer. The MRI percent and absolute dense volumes were estimated using our novel algorithm (MRIBview) while mammographic percent and absolute dense area were estimated using the Cumulus thresholding algorithm and also using a 21-point Visual Assessment scale for one medio-lateral oblique image per woman. We assessed the relationships of the MRI and mammographic measures to one another, to standard anthropometric and hormonal factors, to BRCA1/2 genetic status, and to breast cancer risk (60 cases) using linear and Poisson regression.Results MRI percent dense volume is well correlated with mammographic percent dense area (R = 0.76) but overall gives estimates 8.1 percentage points lower (P < 0.0001). Both show strong associations with established anthropometric and hormonal factors. Mammographic percent dense area, and to a lesser extent MRI percent dense volume were lower in BRCA1 carriers (P = 0.001, P = 0.010 respectively) but there was no association with BRCA2 carrier status. The study was underpowered to detect expected associations between percent density and breast cancer, but women with absolute MRI dense volume in the upper half of the distribution had double the risk of those in the lower half (P = 0.009).Conclusions The MRIBview estimates of volumetric breast density are highly correlated with mammographic dense area but are not equivalent measures; the MRI absolute dense volume shows potential as a predictor of breast cancer risk that merits further investigation

Nuclear structure and reaction studies at SPIRAL

The SPIRAL facility at GANIL, operational since 2001, is described briefly. The diverse physics program using the re-accelerated (1.2 to 25 MeV/u) beams ranging from He to Kr and the instrumentation specially developed for their exploitation are presented. Results of these studies, using both direct and compound processes, addressing various questions related to the existence of exotic states of nuclear matter, evolution of new "magic numbers", tunnelling of exotic nuclei, neutron correlations, exotic pathways in astrophysical sites and characterization of the continuum are discussed. The future prospects for the facility and the path towards SPIRAL2, a next generation ISOL facility, are also briefly presented.Comment: 48 pages, 27 figures. Accepted for publication in Journal of Physics

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Peer reviewedPublisher PD

Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis

BACKGROUND: Dysregulation of the cell cycle is a hallmark of many cancers including ovarian cancer, a leading cause of gynaecologic cancer mortality worldwide.METHODS: We examined single nucleotide polymorphisms (SNPs) (n = 288) from 39 cell cycle regulation genes, including cyclins, cyclin-dependent kinases (CDKs) and CDK inhibitors, in a two-stage study. White, non-Hispanic cases (n = 829) and ovarian cancer-free controls (n = 941) were genotyped using an Illumina assay.RESULTS: Eleven variants in nine genes (ABL1, CCNB2, CDKN1A, CCND3, E2F2, CDK2, E2F3, CDC2, and CDK7) were associated with risk of ovarian cancer in at least one genetic model. Seven SNPs were then assessed in four additional studies with 1689 cases and 3398 controls. Association between risk of ovarian cancer and ABL1 rs2855192 found in the original population [odds ratio, ORBB vs AA 2.81 (1.29-6.09), P = 0.01] was also observed in a replication population, and the association remained suggestive in the combined analysis [ORBB vs AA 1.59 (1.08-2.34), P = 0.02]. No other SNP associations remained suggestive in the replication populations.CONCLUSION: ABL1 has been implicated in multiple processes including cell division, cell adhesion and cellular stress response. These results suggest that characterization of the function of genetic variation in this gene in other ovarian cancer populations is warranted. British Journal of Cancer (2009) 101, 1461-1468. doi: 10.1038/sj.bjc.6605284 www.bjcancer.com Published online 8 September 2009 (C) 2009 Cancer Research U