Emplacement of pyroclastic deposits offshore Montserrat : insights from 3D seismic data

During the current (1995-present) eruptive phase of the Soufrière Hills volcano on Montserrat, voluminous pyroclastic flows entered the sea off the eastern flank of the island, resulting in the deposition of well-defined submarine pyroclastic lobes. Previously reported bathymetric surveys documented the sequential construction of these deposits, but could not image their internal structure, the morphology or extent of their base, or interaction with the underlying sediments. We show, by combining these bathymetric data with new high-resolution three dimensional (3D) seismic data, that the sequence of previously detected pyroclastic deposits from different phases of the ongoing eruptive activity is still well preserved. A detailed interpretation of the 3D seismic data reveals the absence of significant (> 3. m) basal erosion in the distal extent of submarine pyroclastic deposits. We also identify a previously unrecognized seismic unit directly beneath the stack of recent lobes. We propose three hypotheses for the origin of this seismic unit, but prefer an interpretation that the deposit is the result of the subaerial flank collapse that formed the English's Crater scarp on the Soufrière Hills volcano. The 1995-recent volcanic activity on Montserrat accounts for a significant portion of the sediments on the southeast slope of Montserrat, in places forming deposits that are more than 60. m thick, which implies that the potential for pyroclastic flows to build volcanic island edifices is significant.

Gene expression studies in multiple sclerosis

Multiple sclerosis (MS) is a serious neurological disorder affecting young Caucasian individuals, usually with an age of onset at 18 to 40 years old. Females account for approximately 60x of MS cases and the manifestation and course of the disease is highly variable from patient to patient. The disorder is characterised by the development of plaques within the central nervous system (CNS). Many gene expression studies have been undertaken to look at the specific patterns of gene transcript levels in MS. Human tissues and experimental mice were used in these gene-profiling studies and a very valuable and interesting set of data has resulted from these various expression studies. In general, genes showing variable expression include mainly immunological and inflammatory genes, stress and antioxidant genes, as well as metabolic and central nervous system markers. Of particular interest are a number of genes localised to susceptible loci previously shown to be in linkage with MS. However due to the clinical complexity of the disease, the heterogeneity of the tissues used in expression studies, as well as the variable DNA chips/membranes used for the gene profiling, it is difficult to interpret the available information. Although this information is essential for the understanding of the pathogenesis of MS, it is difficult to decipher and define the gene pathways involved in the disorder. Experiments in gene expression profiling in MS have been numerous and lists of candidates are now available for analysis. Researchers have investigated gene expression in peripheral mononuclear white blood cells (PBMCs), in MS animal models Experimental Allergic Encephalomyelitis (EAE) and post mortem MS brain tissues. This review will focus on the results of these studies.

Towards the retrieval of accurate OD matrices from Bluetooth data : lessons learned from 2 years of data

The Bluetooth technology is being increasingly used to track vehicles throughout their trips, within urban networks and across freeway stretches. One important opportunity offered by this type of data is the measurement of Origin-Destination patterns, emerging from the aggregation and clustering of individual trips. In order to obtain accurate estimations, however, a number of issues need to be addressed, through data filtering and correction techniques. These issues mainly stem from the use of the Bluetooth technology amongst drivers, and the physical properties of the Bluetooth sensors themselves. First, not all cars are equipped with discoverable Bluetooth devices and the Bluetooth-enabled vehicles may belong to some small socio-economic groups of users. Second, the Bluetooth datasets include data from various transport modes; such as pedestrian, bicycles, cars, taxi driver, buses and trains. Third, the Bluetooth sensors may fail to detect all of the nearby Bluetooth-enabled vehicles. As a consequence, the exact journey for some vehicles may become a latent pattern that will need to be extracted from the data. Finally, sensors that are in close proximity to each other may have overlapping detection areas, thus making the task of retrieving the correct travelled path even more challenging. The aim of this paper is twofold. We first give a comprehensive overview of the aforementioned issues. Further, we propose a methodology that can be followed, in order to cleanse, correct and aggregate Bluetooth data. We postulate that the methods introduced by this paper are the first crucial steps that need to be followed in order to compute accurate Origin-Destination matrices in urban road networks.

Prospects for whole genome linkage disequilibrium mapping in domestic dog breeds

Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mapping and has been used with some success for initial disease gene isolation in certain isolated in-bred human populations. An understanding of the population history of domestic dog breeds suggests that LD mapping could be routinely utilized in this species for initial genome-wide scans. Such an approach offers significant advantages over traditional linkage analysis. Here, we demonstrate, using canine copper toxicosis in the Bedlington terrier as the model, that LD mapping could be reasonably expected to be a useful strategy in low-resolution, genome-wide scans in pure-bred dogs. Significant LD was demonstrated over distances up to 33.3 cM. It is very unlikely, for a number of reasons discussed, that this result could be extrapolated to the rest of the genome. It is, however, consistent with the expectation given the population structure of canine breeds and, in this breed at least, with the hypothesis that it may be possible to utilize LD in a genome-wide scan. In this study, LD mapping confirmed the location of the copper toxicosis in Bedlington terrier gene (CT-BT) and was able to do so in a population that was refractory to traditional linkage analysis.

A data mining framework for relevance feature discovery

This thesis is a study for automatic discovery of text features for describing user information needs. It presents an innovative data-mining approach that discovers useful knowledge from both relevance and non-relevance feedback information. The proposed approach can largely reduce noises in discovered patterns and significantly improve the performance of text mining systems. This study provides a promising method for the study of Data Mining and Web Intelligence.

Evidence for an X-linked genetic component in familial typical migraine

Migraine is a common complex disorder that shows strong familial aggregation. There is a general increased prevalence of migraine in females compared with males, with recent studies indicating that migraine affects 18% of females compared with 6% of males. This preponderance of females among migraine sufferers coupled with evidence of an increased risk of migraine in first degree relatives of male probands but not in relatives of female probands suggests the possibility of an X-linked dominant gene. We report here the localization of a typical migraine susceptibility locus to the X chromosome. Of three large multigenerational migraine pedigrees two families showed significant excess allele sharing to Xq markers (P = 0.031 and P = 0.012). Overall analysis of data from all three pedigrees gave significant evidence in support of linkage and heterogeneity (HLOD = 3.1). These findings provide conclusive evidence that familial typical migraine is a heterogeneous disorder. We suggest that the localization of a migraine susceptibility locus to the X chromosome could in part explain the increased risk of migraine in relatives of male probands and may be involved in the increased female prevalence of this disorder.

Migraine association and linkage analyses of the human 5-hydroxytryptamine (5HT2A) receptor gene

5-Hydroxytryptamine (5HT), commonly known as serotonin, which predominantly serves as an inhibitory neurotransmitter in the brain, has long been implicated in migraine pathophysiology. This study tested an Mspl polymorphism in the human 5HT2A receptor gene (HTR2A) and a closely linked microsatellite marker (D13S126), for linkage and association with common migraine. In the association analyses, no significant differences were found between the migraine and control populations for both the Mspl polymorphism and the D13S126 microsatellite marker. The linkage studies involving three families comprising 36 affected members were analysed using both parametric (FASTLINK) and non-parametric (MFLINK and APM) techniques. Significant close linkage was indicated between the Mspl polymorphism and the D13S126 microsatellite marker at a recombination fraction (θ) of zero (lod score=7.15). Linkage results for the Mspl polymorphism were not very informative in the three families, producing maximum and minimum lod scores of only 0.35 and 0.39 at recombination fractions (θ) of 0.2 and 0.00, respectively. However, linkage analysis between the D13S126 marker and migraine indicated significant non-linkage (lod2) up to a recombination fraction (θ) of 0.028. Results from this study exclude the HTR2A gene, which has been localized to chromosome 13q14-q21, for involvement with common migraine.

Fundamental understanding on the use of Bluetooth scanner as a complementary transport data

Literature is limited in its knowledge of the Bluetooth protocol based data acquisition process and in the accuracy and reliability of the analysis performed using the data. This paper extends the body of knowledge surrounding the use of data from the Bluetooth Media Access Control Scanner (BMS) as a complementary traffic data source. A multi layer simulation model named Traffic and Communication Simulation (TCS) is developed. TCS is utilised to model the theoretical properties of the BMS data and analyse the accuracy and reliability of travel time estimation using the BMS data.

Migraine association and linkage studies of an endothelial nitric oxide synthase (NOS3) gene polymorphism

Migraine shows strong familial aggregation. However, the number of genes involved in the disorder is unknown and not identified. Nitric oxide is involved in the central processing of pain stimuli and plays an important role in the regulation of basal or stimulated vasodilation. Nitric oxide synthase, which controls the synthesis of nitric oxide, could possibly be a cause, or candidate gene, in migraine etiology. In this study, we detected a polymorphism for endothelial nitric oxide synthase by polymerase chain reaction and tested this for association and linkage to migraine. Results from the study did not show an association of the nitric oxide synthase microsatellite when tested in 91 affected and 85 unaffected individuals. Using the FASTLINK program for parametric linkage analysis, the polymorphism did not show significant linkage to migraine when tested in four migraine pedigrees composed of 116 individuals, 52 affected. Total LOD scores excluded linkage up to 8.5 cM between the nitric oxide synthase polymorphism and migraine. Results using the nonparametric affected pedigree member form of analysis also did not support a role for this gene in migraine etiology.

Regional chromosomal assignment of human renin gene to 1q12→qter and use in linkage studies in Charcot-Marie-Tooth disease

The gene for renin, previously mapped to human chromosome 1, was further localized to 1q12 → qter using human-mouse somatic cell hybrid DNAs. The renin DNA probe used (λ HR5) could detect a HindIII restriction fragment length polymorphism. When used in studies of 12 informative families, no linkage could be found between the renin and Charcot-Marie-Tooth disease. Furthermore, an association of any renin allele with hypertension was not apparent.

Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers - Duffy (Fy), antithrombin III (AT3), renin (REN), β-nerve growth factor (NGFB), and salivary amylase (AMY1) - in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate that possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.

Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 and 10 cM or less, α-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α-spectrin.

Improving the PLDA based speaker verification in limited microphone data conditions

A significant amount of speech data is required to develop a robust speaker verification system, but it is difficult to find enough development speech to match all expected conditions. In this paper we introduce a new approach to Gaussian probabilistic linear discriminant analysis (GPLDA) to estimate reliable model parameters as a linearly weighted model taking more input from the large volume of available telephone data and smaller proportional input from limited microphone data. In comparison to a traditional pooled training approach, where the GPLDA model is trained over both telephone and microphone speech, this linear-weighted GPLDA approach is shown to provide better EER and DCF performance in microphone and mixed conditions in both the NIST 2008 and NIST 2010 evaluation corpora. Based upon these results, we believe that linear-weighted GPLDA will provide a better approach than pooled GPLDA, allowing for the further improvement of GPLDA speaker verification in conditions with limited development data.