Unknown biological mixtures evaluation using STR analytical quantification.

Allelic quantification of STRs, where the presence of three or more alleles represents mixtures, provides a novel method to identify mixtures from unknown biological sources. The allelic stutters resulting in slightly different repeat containing products during fragment amplification can be mistaken for true alleles complicating a simple approach to mixture analysis. An algorithm based on the array of estimated stutters from known samples was developed and tuned to maximize the identification of true non-mixtures through the analysis of three pentanucleotide STRs.

Behavioral risk exposure and host genetics of susceptibility to HIV-1 infection.

Background: Some individuals are readily infected with low human immunodeficiency virus type 1 (HIV-1) exposure, whereas others appear less susceptible, suggesting that host genetics plays a role in the viral entry pathway. The matched case-control study design with measured risk exposures provides an avenue for discovering genes involved in susceptibility to infection.

Methods: We conducted a nested case-control study of African Americans (266 HIV-1 seroconverter cases and 532 seronegative controls from the AIDS Link to Intravenous Experience cohort), to examine the association between 50 single-nucleotide polymorphisms (SNPs) in 9 candidate genes (CCR5, CCR2, RANTES, MIP1A, MCP2, IL10, IFNG, MCSF, and IL2) and susceptibility to HIV-1 infection.

Detection and measurement of alternative splicing using splicing-sensitive microarrays.

Splicing and alternative splicing are major processes in the interpretation and expression of genetic information for metazoan organisms. The study of splicing is moving from focused attention on the regulatory mechanisms of a selected set of paradigmatic alternative splicing events to questions of global integration of splicing regulation with genome and cell function. For this reason, parallel methods for detecting and measuring alternative splicing are necessary.

Validation of a visual gait assessment scale for children with hemiplegic cerebral palsy.

This study reports the experience of reliability testing and validation of a visual assessment of gait based on the Physician Rating Scale in children with hemiplegic cerebral palsy. Comparison with three-dimensional gait analysis showed excellent correlation between observers and full gait analysis for sagittal plane motion at the knee in stance. Inter and intra-rater reliability showed moderate to almost perfect agreement for foot contact characteristics and ankle in stance.

Urea cycle disorders: clinical presentation outside the newborn period.

Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated with acute illness are also common. A disorder of urea cycle metabolism should be considered in children who have recurrent symptoms, especially neurologic abnormalities associated with periods of decompensation.

Diagnosis of invasive pneumococcal infection by serotype-specific urinary antigen detection.

Widespread use of conjugate pneumococcal polysaccharide-protein vaccines may alter the spectrum of pneumococci producing invasive disease. Novel sensitive diagnostic methods would be valuable for monitoring the epidemiology of pneumococcal disease within populations and vaccine recipients. Ideally, these methods should allow determination of the serotype of the infecting clone.

Individual variation in rapid eye movement sleep is associated with pain perception in healthy women: preliminary data.

Study Objectives: Sleep-deprivation experiments suggest that sleep loss increases pain sensitivity. It is unclear from preliminary studies, however, whether sleep-related processes are directly associated with pain perception or whether hyperalgesia is due to the secondary effects of sleep deprivation and/or demand characteristics. Consequently, we sought to evaluate relationships between sleep architecture and laboratory measures of pain processing in healthy women, sleeping under normal conditions.

Mapping by admixture linkage disequilibrium: advances, limitations and guidelines.

Mapping by admixture linkage disequilibrium (MALD) is a theoretically powerful, although unproven, approach to mapping genetic variants that are involved in human disease. MALD takes advantage of long-range haplotypes that are generated by gene flow among recently admixed ethnic groups, such as African-Americans and Latinos. Under ideal circumstances, MALD will have more power to detect some genetic variants than other types of genome-wide association study that are carried out among more ethnically homogeneous populations.

Genetic and clonal diversity of two cattail species, Typha latifolia and T. angustifolia (Typhaceae), from Ukraine.

Genetic and clonal diversity vary between two closely related cattail species (Typha angustifolia and T. latifolia) from Ukraine. This diversity was calculated from microsatellite data.

Cognitive behavior therapy for chronic insomnia occurring within the context of medical and psychiatric disorders.

Insomnia is a pervasive problem for many patients suffering from medical and psychiatric conditions. Even when the comorbid disorders are successfully treated, insomnia often fails to remit. In addition to compromising quality of life, untreated insomnia may also aggravate and complicate recovery from the comorbid disease.

Experimental evidence for multivariate stabilizing sexual selection.

Stabilizing selection is a fundamental concept in evolutionary biology. In the presence of a single intermediate optimum phenotype (fitness peak) on the fitness surface, stabilizing selection should cause the population to evolve toward such a peak. This prediction has seldom been tested, particularly for suites of correlated traits.

Dominant effects of CCR2-CCR5 haplotypes in HIV-1 disease progression.

Three haplotypes for the CCR2-CCR5 region previously have been shown to affect AIDS progression; however, it is not known if the protective and accelerating effects of the haplotypes are relatively constant throughout infection or exert their effects early or late in HIV type 1 infection. The authors report the relative contributions to AIDS progression of CCR2 64I, CCR5 Delta32, and the CCR5 promoter haplotype +.P1.

Theory and methodology for utilizing genes as biomarkers to determine potential biological mixtures.

Purpose: Genetically determined mixture information can be used as a surrogate for physical or behavioral characteristics in epidemiological studies examining research questions related to socially stigmatized behaviors and horizontally transmitted infections. A new measure, the probability of mixture discrimination (PMD), was developed to aid mixture analysis that estimates the ability to differentiate single from multiple genomes in biological mixtures.

Methods: Four autosomal short tandem repeats (STRs) were identified, genotyped and evaluated in African American, European American, Hispanic, and Chinese individuals to estimate PMD.

Meteorologic factors and subjective sleep continuity: a preliminary evaluation.

Little research has been undertaken to evaluate whether environmental factors other than bright light influence the individual's ability to initiate and maintain sleep. In the present analyses, nine meteorologic variables were evaluated for their possible relationship to self-reported sleep continuity in a sample of 43 subjects over a period of 105 days. In this preliminary analysis, high barometric pressure, low precipitation, and lower temperatures were significantly correlated with good sleep continuity.

The effects of modafinil and cognitive behavior therapy on sleep continuity in patients with primary insomnia.

Background: Daytime fatigue, if not frank sleepiness, is a common symptom among patients with insomnia, one that is exacerbated during acute treatment with cognitive behavior therapy (CBT). The present study was undertaken to assess whether modafinil could be used to reduce daytime fatigue, sleepiness, or both in patients with primary insomnia and whether the pharmacologic augmentation of wakefulness might produce improved sleep by itself or in combination with CBT.

Methods: 30 subjects with primary insomnia were enrolled in this study and were randomly assigned to 1 of 3 treatment conditions: (1) placebo plus CBT, (2) 100 mg modafinil plus CBT, or (3) 100 mg modafinil plus a contact control (monitor-only condition).

A high-density admixture map for disease gene discovery in african americans.

Admixture mapping (also known as "mapping by admixture linkage disequilibrium," or MALD) provides a way of localizing genes that cause disease, in admixed ethnic groups such as African Americans, with approximately 100 times fewer markers than are required for whole-genome haplotype scans. However, it has not been possible to perform powerful scans with admixture mapping because the method requires a dense map of validated markers known to have large frequency differences between Europeans and Africans. To create such a map, we screened through databases containing approximately 450000 single-nucleotide polymorphisms (SNPs) for which frequencies had been estimated in African and European population samples.

High-throughput gene discovery in the rat.

The rat is an important animal model for human diseases and is widely used in physiology. In this article we present a new strategy for gene discovery based on the production of ESTs from serially subtracted and normalized cDNA libraries, and we describe its application for the development of a comprehensive nonredundant collection of rat ESTs. Our new strategy appears to yield substantially more EST clusters per ESTs sequenced than do previous approaches that did not use serial subtraction.

How do sleep disturbance and chronic pain inter-relate? Insights from the longitudinal and cognitive-behavioral clinical trials literature.

Sleep disturbance is perhaps one of the most prevalent complaints of patients with chronically painful conditions. Experimental studies of healthy subjects and cross-sectional research in clinical populations suggest the possibility that the relationship between sleep disturbance and pain might be reciprocal, such that pain disturbs sleep continuity/quality and poor sleep further exacerbates pain. This suggests that aggressive management of sleep disturbance may be an important treatment objective with possible benefits beyond the improvement in sleep.

Transplantation of neuronal and glial precursors dramatically improves sensorimotor function but not cognitive function in the traumatically injured brain.

Embryonic stem (ES) cells have been investigated in various animal models of neurodegenerative disease; however, few studies have examined the ability of ES cells to improve functional outcome following traumatic brain injury (TBI). The purpose of the present study was to examine the ability of pre-differentiated murine ES cells (neuronal and glial precursors) to improve functional outcome. Rats were prepared with a unilateral controlled cortical impact injury or sham and then transplanted 7 days later with 100K ES cells (WW6G) (~30% neurons) or media.

Laboratory evaluation of a fully automated chemiluminescence immunoassay for rapid detection of HBsAg, antibodies to HBsAg, and antibodies to hepatitis C virus.

The performance of a fully automated, random access, enhanced chemiluminescence immunoassay (Ortho/ECi) for the detection of antibody to hepatitis C virus (HCV) (anti-HCV), HBsAg, and antibody to HBsAg (anti-HBsAg), in human serum was compared to a Abbott second-generation enzyme immunoassay (EIA 2.0). The Ortho/ECi assays employ an immunometric technique with enhanced chemiluminescence for optimal assay performance.

Cognitive behavior therapy for chronic insomnia.

Approximately 20% of patients presenting in general medical settings have severe and persistent insomnia. Studies consistently find that trouble initiating and maintaining sleep are independent risk factors for medical and psychiatric morbidity, but insomnia is often underdetected and undertreated in primary care settings. Cognitive-behavioral treatment approaches for chronic insomnia and related sleep disorders have been shown to be effective in various patient populations.

Rapid diagnosis of bacteremic pneumococcal infections in adults by using the Binax NOW Streptococcus pneumoniae urinary antigen test: a prospective, controlled clinical evaluation.

The diagnosis of severe pneumococcal infections is inadequate, relying heavily on culture of Streptococcus pneumoniae from blood or other normally sterile fluids, and is severely limited by prior administration of antibiotics. We evaluated prospectively the Binax NOW S. pneumoniae urinary antigen test, a rapid immunochromatographic assay, for the diagnosis of bacteremic pneumococcal infections in hospitalized adult patients.