312 research outputs found

    Cervical Cancer Screening with Liquid Cytology in Women with Developmental Disabilities

    Full text link
    Abstract Objective: To evaluate the use of liquid cytology in Pap smears in women with developmental disabilities (DD) for endocervical cell yield and abnormalities, via speculum examination or blind technique. Methods: We used retrospective chart review of gynecological visits by women with DD from October 2002 to November 2005. Cervical cytology screening included speculum examination or blind technique. Endocervical cell yield was analyzed via Pearson's chi-square test. Results: Of 240 attempted liquid cytology Pap smears, 199 (82.9%) were completed. Of these, 193 met inclusion criteria for the study, and 120 (62.2%) contained endocervical cells. The endocervical cell yield with liquid cytology/speculum was 80.0% and was 43.6% with liquid cytology/blind (p < 0.001). Two blind smears (1.0%) were abnormal; both revealed atypical squamous cells of undetermined significance (ASCUS) with subsequent negative human papillomavirus (HPV) typing. Conclusions: Cervical screening with liquid cytology in women with DD provides an overall rate of endocervical cells of approximately 44%-80% depending on the technique used. Although this is much lower than in the general population, this compares favorably with slide Pap smear in women with DD. The 44% yield of endocervical cells and the finding of abnormal Pap smears with the blind technique suggest this is a reasonable alternative for obtaining Pap smears in women with difficult pelvic examinations who otherwise would not receive cervical screening.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/78111/1/jwh.2008.0795.pd

    Alterations of Excitation–Contraction Coupling and Excitation Coupled Ca2+ Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle Disease

    Get PDF
    Rippling muscle disease is caused by mutations in the gene encoding caveolin-3 (CAV3), the muscle-specific isoform of the scaffolding protein caveolin, a protein involved in the formation of caveolae. In healthy muscle, caveolin-3 is responsible for the formation of caveolae, which are highly organized sarcolemmal clusters influencing early muscle differentiation, signalling and Ca2+ homeostasis. In the present study we examined Ca2+ homeostasis and excitation–contraction (E-C) coupling in cultured myotubes derived from two patients with Rippling muscle disease with severe reduction in caveolin-3 expression; one patient harboured the heterozygous c.84C>A mutation while the other patient harbored a homozygous splice-site mutation (c.102+ 2T>C) affecting the splice donor site of intron 1 of the CAV3 gene. Our results show that cells from control and rippling muscle disease patients had similar resting [Ca2+]i and 4-chloro-m-cresol-induced Ca2+ release but reduced KCl-induced Ca2+ influx. Detailed analysis of the voltage-dependence of Ca2+ transients revealed a significant shift of Ca2+ release activation to higher depolarization levels in CAV3 mutated cells. High resolution immunofluorescence analysis by Total Internal Fluorescence microscopy supports the hypothesis that loss of caveolin-3 leads to microscopic disarrays in the colocalization of the voltage-sensing dihydropyridine receptor and the ryanodine receptor, thereby reducing the efficiency of excitation–contraction coupling. Hum Mutat 32:309–317, 2011. © 2011 Wiley-Liss, Inc

    Large-scale insertional mutagenesis of a coleopteran stored grain pest, the red flour beetle Tribolium castaneum, identifies embryonic lethal mutations and enhancer traps

    Get PDF
    <p>Abstract</p> <p>Background</p> <p>Given its sequenced genome and efficient systemic RNA interference response, the red flour beetle <it>Tribolium castaneum </it>is a model organism well suited for reverse genetics. Even so, there is a pressing need for forward genetic analysis to escape the bias inherent in candidate gene approaches.</p> <p>Results</p> <p>To produce easy-to-maintain insertional mutations and to obtain fluorescent marker lines to aid phenotypic analysis, we undertook a large-scale transposon mutagenesis screen. In this screen, we produced more than 6,500 new <it>piggyBac </it>insertions. Of these, 421 proved to be recessive lethal, 75 were semi-lethal, and eight indicated recessive sterility, while 505 showed new enhancer-trap patterns. Insertion junctions were determined for 403 lines and often appeared to be located within transcription units. Insertion sites appeared to be randomly distributed throughout the genome, with the exception of a preference for reinsertion near the donor site.</p> <p>Conclusion</p> <p>A large collection of enhancer-trap and embryonic lethal beetle lines has been made available to the research community and will foster investigations into diverse fields of insect biology, pest control, and evolution. Because the genetic elements used in this screen are species-nonspecific, and because the crossing scheme does not depend on balancer chromosomes, the methods presented herein should be broadly applicable for many insect species.</p

    Mediastinal abscess after endobronchial ultrasound with transbronchial needle aspiration: a case report

    Get PDF
    Endobronchial ultrasound (EBUS) with transbronchial needle aspiration is now becoming widely accepted as a preferred staging technique. It has been perceived as a non-invasive and well tolerated procedure with minimal complications. We report the development and treatment of a severe complication that developed 2 weeks after the initial procedure in the form of a complex mediastinal abscess. EBUS although useful in its non-invasive application for diagnosing mediastinal or hilar disease, must be regarded with caution since the potential exists to develop severe complications

    Examining trends in nonĂą fatal strangulation among sexual assault survivors seeking Sexual Assault Nurse Examiner care from 2002 to 2017

    Full text link
    Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154499/1/ijgo13058_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154499/2/ijgo13058.pd

    Day-to-Day Inconsistency in Parent Knowledge: Links With Youth Health and Parents' Stress

    Get PDF
    Considerable evidence documents the linkages between higher levels of parental knowledge about youth activities and positive youth outcomes. This study investigated how day-to-day inconsistency in parental knowledge of youth activities was linked to youth behavioral, psychological, and physical health as well as parents’ stress

    Hand2 delineates mesothelium progenitors and is reactivated in mesothelioma

    Full text link
    The mesothelium lines body cavities and surrounds internal organs, widely contributing to homeostasis and regeneration. Mesothelium disruptions cause visceral anomalies and mesothelioma tumors. Nonetheless, the embryonic emergence of mesothelia remains incompletely understood. Here, we track mesothelial origins in the lateral plate mesoderm (LPM) using zebrafish. Single-cell transcriptomics uncovers a post-gastrulation gene expression signature centered on hand2 in distinct LPM progenitor cells. We map mesothelial progenitors to lateral-most, hand2-expressing LPM and confirm conservation in mouse. Time-lapse imaging of zebrafish hand2 reporter embryos captures mesothelium formation including pericardium, visceral, and parietal peritoneum. We find primordial germ cells migrate with the forming mesothelium as ventral migration boundary. Functionally, hand2 loss disrupts mesothelium formation with reduced progenitor cells and perturbed migration. In mouse and human mesothelioma, we document expression of LPM-associated transcription factors including Hand2, suggesting re-initiation of a developmental program. Our data connects mesothelium development to Hand2, expanding our understanding of mesothelial pathologies

    Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

    Get PDF
    Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions associated with the presence of carotid plaque (P < 5 × 10 -8). The associated SNPs mapped in or near genes related to cellular signaling, lipid metabolism and blood pressure homeostasis, and two of the regions were associated with coronary artery disease (P < 0.006) in the Coronary Artery Disease Genome-Wide Replication and Meta-Analysis (CARDIoGRAM) consortium. Our findings may provide new insight into pathways leading to subclinical atherosclerosis and subsequent cardiovascular events
    • 

    corecore