Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue.

Array comparative hybridization has been used successfully to identify genomic alterations in stillbirth material; however, high DNA quantity and quality requirements may limit its utility in some fetal samples. Molecular inversion probe (MIP) array analysis of FFPE stillbirth autopsy samples circumvents the challenges associated with karyotype and short-term fetal cell culture, requires limited DNA input, and allows for retrospective evaluation of fetal loss. We performed MIP analysis on archival FFPE autopsy tissue to identify underlying genetic abnormalities not previously detected using traditional cytogenetic methods.

The influence of age, sex, and posture on the measurement of atlantodental interval in a normal population.

Objective: The atlantodental interval (ADI) is used in assessing atlantoaxial stability. This measurement may potentially be affected by several features encountered during patient examination. This study examined the influence of 3 features: age, sex, and posture, on the measurement of ADI in a normal population.

A novel technique for inferior vena cava filter extraction.

Inferior vena cava (IVC) filters are used to protect against pulmonary embolism in high-risk patients. Whilst the insertion of retrievable IVC filters is gaining popularity, a proportion of such devices cannot be removed using standard techniques. We describe a novel approach for IVC filter removal that involves snaring the filter superiorly along with the use of flexible forceps or laser devices to dissect the filter struts from the caval wall.

Toward understanding normal craniocervical rotation occurring during the rotation stress test for the alar ligaments.

Background: The rotation stress test is recommended for assessing alar ligament integrity. Although some authors, in the literature regarding the rotation stress test, accept that rotation will occur during testing, estimates of range occurring with a normal test response vary between 20 and 40 degrees. None of these estimates are based on formal examination of the test.

The effects of selective history and environmental heterogeneity on inbreeding depression in experimental populations of Drosophila melanogaster.

Inbreeding depression varies considerably among populations, but only some aspects of this variation have been thoroughly studied. Because inbreeding depression requires genetic variation, factors that influence the amount of standing variation can affect the magnitude of inbreeding depression. Environmental heterogeneity has long been considered an important contributor to the maintenance of genetic variation, but its effects on inbreeding depression have been largely ignored by empiricists.

Gene-environment interplay in Drosophila melanogaster: chronic food deprivation in early life affects adult exploratory and fitness traits.

Early life adversity has known impacts on adult health and behavior, yet little is known about the gene-environment interactions (GEIs) that underlie these consequences. We used the fruit fly Drosophila melanogaster to show that chronic early nutritional adversity interacts with rover and sitter allelic variants of foraging (for) to affect adult exploratory behavior, a phenotype that is critical for foraging, and reproductive fitness. Chronic nutritional adversity during adulthood did not affect rover or sitter adult exploratory behavior; however, early nutritional adversity in the larval period increased sitter but not rover adult exploratory behavior.

PAM50 breast cancer subtyping by RT-qPCR and concordance with standard clinical molecular markers.

Background: Many methodologies have been used in research to identify the "intrinsic" subtypes of breast cancer commonly known as Luminal A, Luminal B, HER2-Enriched (HER2-E) and Basal-like. The PAM50 gene set is often used for gene expression-based subtyping; however, surrogate subtyping using panels of immunohistochemical (IHC) markers are still widely used clinically. Discrepancies between these methods may lead to different treatment decisions.

Genomic basis of a polyagglutinating isolate of Neisseria meningitidis.

Containment strategies for outbreaks of invasive Neisseria meningitidis disease are informed by serogroup assays that characterize the polysaccharide capsule. We sought to uncover the genomic basis of conflicting serogroup assay results for an isolate (M16917) from a patient with acute meningococcal disease. To this end, we characterized the complete genome sequence of the M16917 isolate and performed a variety of comparative sequence analyses against N.

Differentiation of malignant melanoma from benign nevus using a novel genomic microarray with low specimen requirements.

Context: Histologic examination of clinically suspicious melanocytic lesions is very sensitive and specific for the detection of malignant melanoma. Yet, the malignant potential of a small percentage of melanocytic lesions remains histologically uncertain. Molecular testing offers the potential to detect the genetic alterations that lead to malignant behavior without overt histologic evidence of malignancy.

A hybrid approach for the automated finishing of bacterial genomes.

Advances in DNA sequencing technology have improved our ability to characterize most genomic diversity. However, accurate resolution of large structural events is challenging because of the short read lengths of second-generation technologies. Third-generation sequencing technologies, which can yield longer multikilobase reads, have the potential to address limitations associated with genome assembly.

Presence, genetic variability, and potential significance of "Candidatus Midichloria mitochondrii" in the lone star tick Amblyomma americanum.

We used next generation sequencing to detect the bacterium "Candidatus Midichloria mitochondrii" for the first time in lone star ticks (Amblyomma americanum) from the eastern United States. 177 individuals and 11 tick pools from seven sites in four states were tested by pyrosequencing with barcoded 16S rRNA gene eubacterial primers targeting variable regions 5-3. Average infection prevalence was 0.

Relative effectiveness of mating success and sperm competition at eliminating deleterious mutations in Drosophila melanogaster.

Condition-dependence theory predicts that sexual selection will facilitate adaptation by selecting against deleterious mutations that affect the expression of sexually selected traits indirectly via condition. Recent empirical studies have provided support for this prediction; however, their results do not elucidate the relative effects of pre- and postcopulatory sexual selection on deleterious mutations. We used the Drosophila melanogaster model system to discern the relative contributions of pre- and postcopulatory processes to selection against deleterious mutations.

Team task analysis: differentiating between tasks using team relatedness and team workflow as metrics of team task interdependence.

Objective: As a constructive replication and extension of Arthur, Edwards, Bell, Villado, and Bennett (2005), the objective of the current study was to further investigate the efficacy of team relatedness and team workflow ratings (along with their composite) as metrics of interdependence.

Background: Although an analysis of task and job interdependence has important implications and uses in domains such as job design, selection, and training, the job analysis literature has been slow to develop an effective method to identify team-based tasks and jobs.

Method: To achieve the study's objectives, 140 F-16 fighter pilots (35 four-person teams) rated 34 task and activity statements in terms of their team relatedness and team workflow.

Prolonged Exposure Therapy for PTSD among Individuals in a Residential Substance Use Treatment Program: A Case Series.

Clients with co-occurring posttraumatic stress disorder (PTSD) and substance use disorders present a unique challenge for clinicians in substance use treatment settings. Substance dependent individuals with PTSD tend to improve less during substance use treatment and relapse more quickly following abstinence attempts compared to those without PTSD. Recent scientific efforts have focused on understanding the potential benefit of providing PTSD treatment concurrent with substance use treatment.

The anterior shear and distraction tests for craniocervical instability. An evaluation using magnetic resonance imaging.

Screening for integrity of the ligaments of the craniocervical complex has been suggested prior to the application of manual techniques to the upper cervical spine. However, most tests proposed lack validation limiting their usefulness clinically. This study examined the effect of the anterior shear test for the transverse ligament and the distraction test for the tectorial membrane in normal volunteers.

Function, developmental genetics, and fitness consequences of a sexually antagonistic trait.

Sexual conflict is thought to be a potent force driving the evolution of sexually dimorphic traits. In the water strider Rheumatobates rileyi, we show that elaborated traits on male antennae function to grasp resistant females during premating struggles. Using RNA interference, we uncovered novel roles of the gene distal-less (dll) in generating these male-specific traits.

Gene duplication in the evolution of sexual dimorphism.

Males and females share most of the same genes, so selection in one sex will typically produce a correlated response in the other sex. Yet, the sexes have evolved to differ in a multitude of behavioral, morphological, and physiological traits. How did this sexual dimorphism evolve despite the presence of a common underlying genome? We investigated the potential role of gene duplication in the evolution of sexual dimorphism.

Yap1: a DNA damage responder in Saccharomyces cerevisiae.

Activation of signaling pathways in response to genotoxic stress is crucial for cells to properly repair DNA damage. In response to DNA damage, intracellular levels of reactive oxygen species increase. One important function of such a response could be to initiate signal transduction processes.

Patient and partner correlates of couple relationship functioning in bipolar disorder.

Extensive research in unipolar depressed and population-based samples has shown cross-partner associations between depressive symptoms and relationship adjustment. Yet despite evidence that bipolar disorder (BPD) is a more chronic and severe illness than unipolar depression, that individuals with BPD are at risk for interpersonal dysfunction, and that critical, unsupportive relationships are predictive of the course of depressive symptoms in BPD, there have been limited efforts to understand the correlates of relationship functioning within BPD. The current study addresses this gap in the literature by examining the associations between the depressive and manic symptoms of individuals with BPD, their partner's depressive symptoms, and relationship functioning, using a multimethod, multi-informant approach.

A distinct lineage of influenza A virus from bats.

Influenza A virus reservoirs in animals have provided novel genetic elements leading to the emergence of global pandemics in humans. Most influenza A viruses circulate in waterfowl, but those that infect mammalian hosts are thought to pose the greatest risk for zoonotic spread to humans and the generation of pandemic or panzootic viruses. We have identified an influenza A virus from little yellow-shouldered bats captured at two locations in Guatemala.

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. We report here that mutations in GPR179, encoding an orphan G protein receptor, underlie a form of autosomal-recessive cCSNB. The Gpr179(nob5/nob5) mouse model was initially discovered by the absence of the ERG b-wave, a component that reflects depolarizing bipolar cell (DBC) function.

Couple therapy for military veterans: overall effectiveness and predictors of response.

Despite the numerous challenges facing U.S. veterans and their relationships, there have been no examinations of the effectiveness of couple therapy for relationship distress provided to veterans.

Anisogamy, chance and the evolution of sex roles.

Recently, several authors have challenged the view that anisogamy, the defining feature of the sexes, is an important determinant of the evolution of sex roles. Sex roles are instead suggested to result from chance, or from non-heritable differences in life histories of females and males. Here, we take issue with these ideas.

Sexual conflict and antagonistic coevolution across water strider populations.

Microevolutionary studies have demonstrated sexually antagonistic selection on sexual traits, and existing evidence supports a macroevolutionary pattern of sexually antagonistic coevolution. Two current questions are how antagonistic selection within-populations scales to divergence among populations, and to what extent intraspecific divergence matches species-level patterns. To address these questions, we conducted an intraspecific comparative study of sexual armaments and mating behaviors in a water strider (Gerris incognitus) in which male genitals grasp resistant females and female abdominal structures help ward off males.

Construct validity of clinical tests for alar ligament integrity: an evaluation using magnetic resonance imaging.

Background: The alar ligaments are integral to limiting occipito-atlanto-axial rotation and lateral flexion and enhancing craniocervical stability. Clinical testing of these ligaments is advocated prior to the application of some cervical spine manual therapy procedures. Given the absence of validation of these tests and the potential consequences if manipulation is applied to an unstable upper cervical spine segment, exploration of these tests is necessary.