Effects of Vibratory Source on Auditory-Perceptual and Bio-Inspired Computational Measures of Pediatric Voice Quality.

OBJECTIVE: The vibratory source for voicing in children with dysphonia is classified into three categories including a glottal vibratory source (GVS) observed in those with vocal lesions or hyperfunction; supraglottal vibratory sources (SGVS) observed secondary to laryngeal airway injuries, malformations, or reconstruction surgeries; and a combination of both glottal and supraglottal vibratory sources called mixed vibratory source (MVS). This study evaluated the effects of vibratory source on three primary dimensions of voice quality (breathiness, roughness, and strain) in children with GVS, SGVS, and MVS using single-variable matching tasks and computational measures obtained from bio-inspired auditory models. METHODS: A total of 44 dysphonic voice samples from children aged 4-11 years were selected. Seven listeners rated breathiness, roughness, and strain of 1000-ms /ɑ/ samples using single-variable matching tasks. Computational estimates of pitch strength, amplitude modulation filterbank output, and sharpness were obtained through custom-designed MATLAB algorithms. RESULTS: Perceived roughness and strain were significantly higher in children with SGVS and MVS compared to children with GVS. Among the computational measures, only the modulation filterbank output resulted in significant differences among vibratory sources; a posthoc test revealed that children with SGVS had greater amplitude modulation than children with GVS, as expected from their rougher voice quality. CONCLUSIONS: The results indicate that the output of an auditory amplitude modulation filterbank model may capture characteristics of SGVS that are strongly related to the rough voice quality.

Detection of a primer-binding site polymorphism for the STR locus D16S539 using the Powerplex 1.1 system and validation of a degenerate primer to correct for the polymorphism.

Quality assurance samples submitted from the NCSBI as part of a contract with TBTG to outsource DNA Database samples showed unexpected discrepancies for the locus D16S539 when all other loci yielded identical results. Discrepancies observed included allele drop out and an imbalance in sister alleles with samples returned from TBTG. This led to a comprehensive review of the technical procedures used between the two laboratories to determine the cause of the discrepancies noted for the locus D16S539, since both laboratories were using the PowerPlex 1.1 typing kit from the Promega Corporation. The NCSBI and the TBTG utilize different extraction methods (organic extraction vs. FTA) and amplification conditions (AmpliTaq vs AmpliTaq Gold), respectively, so the exact cause of discrepancy observed was not immediately apparent. Experiments at the NCSBI associated the observed allele drop out and the imbalance of the sister alleles with the use of AmpliTaq Gold and a hot start procedure. Sequencing data revealed that a point mutation resides on the D16S539 primer-binding site that reaches polymorphic levels in African-American populations. This led to the development of a degenerate primer by the Promega Corporation to detect "missing" alleles when AmpliTaq Gold is used. The degenerate primer was then thoroughly tested to show its efficacy in detecting the "true" D16S539 profile when used.

Characterization and validation studies of powerPlex 2.1, a nine-locus short tandem repeat (STR) multiplex system and penta D monoplex.

In order to increase the power of discrimination for human identification purposes, a nine-locus short tandem repeat (STR) multiplex, the GenePrint PowerPlex 2.1 system (PowerPlex 2.1) developed by Promega Corporation and a separate pentanucleotide-repeat locus, Penta D, were tested. This megaplex system includes the highly polymorphic loci FGA, TPOX, D8S1179, vWA, Penta E, D18S51, D21S11, TH01, and D3S1358 and may be used in combination with the eight-locus STR multiplex, the GenePrint PowerPlex 1.1 system (PowerPlex 1.1) that has been previously developed. Three of the loci, TPOX, TH01 and vWA, have been included in both systems for quality control purposes. As with PowerPlex 1.1, PowerPlex 2.1 is also based on a two-color detection of fluorescent-labeled DNA products amplified by polymerase chain reaction (PCR) and provides a valuable tool for accurate and rapid allele determination. The primer sequences used in the PowerPlex 2.1/Penta D system are also presented in this report. To meet the "Quality Assurance Standards for Forensic DNA Testing Laboratories" (FBI), we tested the efficiency and reproducibility of the PowerPlex 2.1/PentaD system by several validation studies that were conducted as a joint project among seven laboratories. Validation tests included concordance studies, sensitivity, and species specificity determination, as well as performance in forensic and environmentally impacted samples. The results produced from these tests demonstrated the consistency and reliability of the PowerPlex 2.1/Penta D system.