Sacred Music Concert

This is the program for The Sacred Music Concert featuring the following artists in order of performance: trombone player Sim Flora, trumpet player Doug Lockard, and pianist Ouida Keck; tenor Steve Garner, violist Meredith Nisbet, and pianist Russell Hodges; Doug Lockard and Ouida Keck; flutists Barry McVinney and Diane McVinney; organist Russell Hodges. This recital took place on February 17, 1997, in the W. Francis McBeth Recital Hall

Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.

This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM

Master\u27s Recital

Program listing performers and works performe

Preliminary Evaluation of Convolutional Neural Network Acoustic Model for Iban Language Using NVIDIA NeMo

For the past few years, artificial neural networks (ANNs) have been one of the most common solutions relied upon while developing automated speech recognition (ASR) acoustic models. There are several variants of ANNs, such as deep neural networks (DNNs), recurrent neural networks (RNNs), and convolutional neural networks (CNNs). A CNN model is widely used as a method for improving image processing performance. In recent years, CNNs have also been utilized in ASR techniques, and this paper investigates the preliminary result of an end-to-end CNN-based ASR using NVIDIA NeMo on the Iban corpus, an under-resourced language. Studies have shown that CNNs have also managed to produce excellent word error (WER) rates for the acoustic model on ASR for speech data. Conversely, results and studies concerned with under-resourced languages remain unsatisfactory. Hence, by using NVIDIA NeMo, a new ASR engine developed by NVIDIA, the viability and the potential of this alternative approach are evaluated in this paper. Two experiments were conducted: the number of resources used in the works of our ASR’s training was manipulated, as was the internal parameter of the engine used, namely the epochs. The results of those experiments are then analyzed and compared with the results shown in existing papers

World Federation of Hemophilia Gene Therapy Registry

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/156126/2/hae14015_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/156126/1/hae14015.pd

Real world outcomes of biopsy-proven oncocytic neoplasm of the kidney managed by surveillance.

OBJECTIVES: To evaluate outcomes of patients diagnosed with oncocytic renal neoplasms on routine renal mass biopsy and to describe the natural history of these tumours when managed with surveillance as opposed to immediate intervention. To report disease-specific survival. PATIENTS AND METHODS: Patients were identified from a retrospective review of pathology databases from three tertiary referral centres that utilise renal mass biopsy in routine clinical practice. All patients with biopsy-proven oncocytic tumours were included and a retrospective review of online patient records was undertaken. RESULTS: There were 184 biopsy-proven oncocytic renal neoplasms identified in 172 patients. There were two biopsy complications (both pneumothorax, Clavien-Dindo Grade I). Of these lesions, 135 were reported as oncocytomas or oncocytic renal neoplasms that were not further classified and 37 were reported as chromophobe carcinoma (ChRCC). The median age at diagnosis was 70 (33-88). The average tumour diameter at diagnosis was 33 mm. One hundred seven tumours were initially managed with surveillance (including 13 ChRCC) with a minimum follow-up of 6 months and a median of 39 months (6-144) whereas 49 patients underwent immediate treatment. The mean growth rate across all oncocytic renal neoplasms managed by surveillance was 3 mm/year. There was no statistically significant difference in growth rates between oncocytic renal neoplasms and ChRCC. Thirteen patients with oncocytic renal neoplasms initially managed by surveillance moved on to an active management strategy during follow-up. The clinical indication given for a change from surveillance was tumour growth in 12 cases and patient choice in 1 case. Where definitive pathology was available, there was 85% concordance with the biopsy. There were no cases of development of metastatic disease or disease-related morbidity or mortality during the study. CONCLUSIONS: This multicentre retrospective cohort study supports the hypothesis that selected biopsy-proven oncocytic renal neoplasms can be safely managed with surveillance in the medium term. Routine renal mass biopsy may reduce surgery for benign or indolent renal tumours and the potential associated morbidity for these patients

Maintenance treatment with quetiapine versus discontinuation after one year of treatment in patients with remitted first episode psychosis: randomised controlled trial

Objective To study rates of relapse in remitted patients with first episode psychosis who either continued or discontinued antipsychotic drugs after at least one year of maintenance treatment

Physiologically-based pharmacokinetic and toxicokinetic models for estimating human exposure to five toxic elements through oral ingestion

Biological monitoring and physiologically-based pharmacokinetic (PBPK) modelling are useful complementary tools in quantifying human exposure to elements in the environment. In this work, we used PBPK models to determine the optimal time for collecting biological samples in a longitudinal study to determine if participants who consumed allotment produce had been exposed to arsenic, cadmium, chromium, nickel or lead. There are a number of PBPK models for these elements published in the literature, which vary in size, complexity and application, given the differences in physiochemical properties of the elements, organs involved in metabolism and exposure pathways affected. We selected PBPK models from the literature to simulate the oral ingestion pathway from consumption of allotment produce. Some models required modification by reducing or removing selected compartments whilst still maintaining their original predictability. The performance of the modified models was evaluated by comparing the predicted urinary and blood elemental levels with experimental data and other model simulations published in the literature. Overall, the model predictions were consistent with literature data (r > 0.7, p < 0.05), and were influential in predicting when samples should be collected. Our results demonstrate the use of mathematical modelling in informing and optimising the design of longitudinal studies

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements [RETRACTED]

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A–D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A–B 22q11.2 deletion carry inversions of LCR22B–D or LCR22C–D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders

TriTrypDB: a functional genomic resource for the Trypanosomatidae

TriTrypDB (http://tritrypdb.org) is an integrated database providing access to genome-scale datasets for kinetoplastid parasites, and supporting a variety of complex queries driven by research and development needs. TriTrypDB is a collaborative project, utilizing the GUS/WDK computational infrastructure developed by the Eukaryotic Pathogen Bioinformatics Resource Center (EuPathDB.org) to integrate genome annotation and analyses from GeneDB and elsewhere with a wide variety of functional genomics datasets made available by members of the global research community, often pre-publication. Currently, TriTrypDB integrates datasets from Leishmania braziliensis, L. infantum, L. major, L. tarentolae, Trypanosoma brucei and T. cruzi. Users may examine individual genes or chromosomal spans in their genomic context, including syntenic alignments with other kinetoplastid organisms. Data within TriTrypDB can be interrogated utilizing a sophisticated search strategy system that enables a user to construct complex queries combining multiple data types. All search strategies are stored, allowing future access and integrated searches. ‘User Comments’ may be added to any gene page, enhancing available annotation; such comments become immediately searchable via the text search, and are forwarded to curators for incorporation into the reference annotation when appropriate