13 research outputs found

    Truncus Arteriosus in a 43 year old Male: Case Report

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    In truncus arteriosus, the embryologic truncus fails to properly divide in-utero resulting in the pulmonary, aortic and coronary arteries arising from a single ascending portion of this trunk. This condition is usually fatal within the first year of life without correction. Over the past two decades, there has been a dramatic expansion in access to diagnostic echo cardiography in Kenya and greater ability to diagnose congenital heart diseases. We present the case of a 43 year old male from western Kenya, newly diagnosed with heart failure due to truncus arteriosus. This case highlights the value of echo-cardiography in Kenya, and supports the need for surgical and interventional cardiac services to grow in tandem with these diagnostic capabilities

    CEH sequence fixity and crossover frequencies from <i>HLA-DQA2</i> to <i>DAXX</i>.

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    <p>Chromosomal location is shown to scale on the abscissa and starts at the mid-point between <i>HLA-DRB1 and HLA-DQB1</i> (A–C) or at <i>HLA-DQB1</i> (D–O). The locations of several HLA class II and extended class II genes are marked by arrows below Figures 3A–C and 3O. The 11 regions analyzed for normalized crossover frequency (NCF) are enumerated in Figure 3D. The numbers of haplotypes analyzed for each CEH are given in <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen-1004637-t001" target="_blank">Table 1</a>. Sequence fixities (A) and NCFs (D–F) are shown for the CEHs B7,DR15 (black open circles), (D); B8,DR3 (green closed circles), (E); and B18,DR3 (red squares), (F). Sequence fixities (B) and NCFs (G–J) are shown for the CEHs C4,B44,DR7 (green closed circles), (G); C16,B44,DR7 (purple open circles), (H); B57,DR7 (red squares), (I); and B44,DR4,DQ7 (blue diamonds), (J). Asterisks (*) in Figures 3B, 3G and 3H indicate that sequence fixities and NCFs could not be determined centromeric to the last data points for the two B44,DR7 CEHs. Sequence fixities (C) and NCFs (K–O) for various DR4,DQ8 CEHs are shown. These include the CEHs B44,SC30/SC31 (black diamonds), (K); B62,SC33 (green closed circles), (L); B38,SC21 (purple open circles), (M); B60,SC31 (red squares), (N); and B62,SB42 (blue triangles), (O). NCFs are normalized to the remaining conserved sequences and to 1 Mb relative to the distance over which crossovers were observed, and values are displayed for 11 sub-regions (<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen.1004637.s005" target="_blank">Table S2</a>).</p

    A map of the MHC class II and extended class II regions of chromosome 6p21.

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    <p>Sequenced sub-regions are marked by colored blocks (top). Distances (kb) are to scale from the human reference sequence. Gene locations from <i>HLA-DRA</i> on the telomeric (T) end to <i>DAXX</i> on the centromeric (C) end are shown.</p

    MHP cell line and CEH allele-level typing in the core MHC region and <i>HLA-DPB1</i>.

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    <p>Shown are MHC alleles for the eight MHP cell lines and, underneath each, for the population CEH(s) that share HLA-DR-DQ specificities with them. Although a known CEH shares HLA-DR-DQ specificities with APD, that CEH does not share significant class II sequence similarity to APD, and is not displayed. Genes are in chromosomal order from telomere to centromere, except <i>CFB</i> and <i>C2</i> are switched because complotype was historically defined in the order shown. HLA gene alleles are shown at the highest definition known up to 4-digit resolution. Alleles containing “/” indicate microvariation.</p>a<p>Abbreviations: UNK  =  Unknown (insufficient data).</p>b<p>This CEH has two possible <i>HLA-C</i> alleles: <i>*04:01</i> and <i>*04:09N</i><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen.1004637-Romero1" target="_blank">[14]</a>, <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen.1004637-Pinto1" target="_blank">[16]</a>.</p><p>MHP cell line and CEH allele-level typing in the core MHC region and <i>HLA-DPB1</i>.</p

    Shared and divergent sequences in related CEHs.

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    <p>A) A region of nearly identical sequence for the B8,DR3 and B18,DR3 CEHs was previously reported <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen.1004637-Traherne1" target="_blank">[19]</a> and is represented by the broken line rectangle, and ends just centromeric to <i>MTC30P1</i>, approximately 50 kb centromeric to <i>HLA-DQB1</i><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004637#pgen.1004637-Stewart1" target="_blank">[18]</a>. B) Shared sequence for the B7,DR15 and B18,DR15 CEHs is shown in the broken line rectangle. Sequence identity for these two CEHs ends centromerically between introns 8 and 6 of <i>TAP2</i>. C) Shared and divergent sequences for four DR4,DQ8 CEHs are shown in the broken line rectangle. <i>HLA-B*15:01</i> and <i>HLA-B*40:01</i> are alleles of the B62 and B60 specificities, respectively.</p

    Supplementary Material for: A Multi-Institutional Feasibility Study on the Use of Automated Screening Systems for Quality Control Rescreening of Cervical Cytology

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    <p><b><i>Objective:</i></b> To evaluate the efficacy of the automated screening system FocalPoint for cervical cytology quality control (QC) rescreening. False-negative rates (FNRs) were evaluated by a multi-institutional retrospective study. <b><i>Study Design:</i></b> Cervical cytology slides that had already been reported as negative for intraepithelial lesion or malignancy (NILM) were chosen arbitrarily for FocalPoint rescreening. Slides stratified into the highest 15% probability of being abnormal were rescreened by a cytotechnologist. The slides that were abnormal were reevaluated by a cytopathologist to be false negatives. <b><i>Results:</i></b> Rescreening of 12,000 slides, i.e. 9,000 conventional slides and 3,000 liquid-based cytology (LBC) slides, was performed; 9,826 (7,393 conventional and 2,433 LBC) were satisfactory for FocalPoint (2,174 were determined unsatisfactory) and those within the highest 15% of probability (1,496, i.e. 1,123 conventional and 373 LBC) were rescreened. As a result, 117 (96 conventional and 21 LBC) were determined as abnormal (other than NILM) and the FNR was 1.19%. Among these 117 slides, 40 (35 conventional and 5 LBC) were determined as high-grade squamous intraepithelial lesion and greater (HSIL+). <b><i>Conclusion:</i></b> Of 117 (1.19%) abnormal slides detected, 40 (0.41%) were determined to be HSIL+. This result suggests that FocalPoint is effective for QC rescreening of cervical cytology.</p
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