Pathology Commons^™

Tbl1xr1 In Physiological And Pathological States, J. Y. Li, G. Daniels, J. Wang, X. Zhang

Journal Articles

Transducin (beta)-like 1X related protein 1 (TBL1XR1/TBLR1) is an integral subunit of the NCoR (nuclear receptor corepressor) and SMRT (silencing mediator of retinoic acid and thyroid hormone receptors) repressor complexes. It is an evolutionally conserved protein that shares high similarity across all species. TBL1XR1 is essential for transcriptional repression mediated by unliganded nuclear receptors (NRs) and othe regulated transcription factors (TFs). However, it can also act as a transcription activator through the recruitment of the ubiquitin-conjugating/19S proteasome complex that mediates the exchange of corepressors for coactivators. TBL1XR1 is required for the activation of multiple intracellular signaling pathways. TBL1XR1 germline mutations …

Utility Of Telepathology As A Consultation Tool Between An Off-Site Surgical Pathology Suite And Affiliated Hospitals In The Frozen Section Diagnosis Of Lung Neoplasms, T. Vitkovski, T. Bhuiya, M. Esposito

Journal Articles

BACKGROUND: Increasingly, as in our institution, operating rooms are located in hospitals and the pathology suite is located at a distant location because of off-site consolidation of pathology services. Telepathology is a technology which bridges the gap between pathologists and offers a means to obtain a consultation remotely. We aimed to evaluate the utility of telepathology as a means to assist the pathologist at the time of intraoperative consultation of lung nodules when a subspecialty pathologist is not available to directly review the slide. METHODS: Cases of lung nodules suspicious for a neoplasm were included. Frozen sections were prepared in …

Mrsa Clonal Complex 22 Strains Harboring Toxic Shock Syndrome Toxin (Tsst-1) Are Endemic In The Primary Hospital In Gaza, Palestine, N. Al Laham, J. R. Mediavilla, L. Chen, N. Abdelateef, F. A. Elamreen, C. C. Ginocchio, D. Pierard, K. Becker, B. N. Kreiswirth

Journal Articles

BACKGROUND: Methicillin-resistant Staphylococcus aureus (MRSA) is an important pathogen in both community and healthcare-related settings worldwide. Current knowledge regarding the epidemiology of S. aureus and MRSA in Gaza is based on a single community-based carriage study. Here we describe a cross-sectional analysis of 215 clinical isolates collected from Al-Shifa Hospital in Gaza during 2008 and 2012. METHODS: All isolates were characterized by spa typing, SCCmec typing, and detection of genes encoding Panton-Valentine leukocidin (PVL) and toxic shock syndrome toxin (TSST-1). Representative genotypes were also subjected to multilocus sequence typing (MLST). Antibiotic susceptibility testing was performed using VITEK2 and MicroScan. RESULTS: …

Novel Fus-Klf17 And Ewsr1-Klf17 Fusions In Myoepithelial Tumors, S. C. Huang, H. W. Chen, L. Zhang, Y. S. Sung, N. P. Agaram, M. Davis, M. Edelman, C. D. M. Fletcher, C. R. Antonescu

Journal Articles

Myoepithelial (ME) tumors of soft tissue and bone display a heterogeneous histologic spectrum and in about half of the cases harbor EWSR1 gene rearrangements. Despite rare case reports, the prevalence of fused in sarcoma (FUS) gene abnormalities and its related fusion partners remains undetermined among ME tumors. Therefore, we screened 66 EWSR1-negative ME tumors for FUS abnormalities by fluorescence in situ hybridization (FISH). In an index FUS-rearranged case, 3-rapid amplification of cDNA ends (RACE) was applied to identify the fusion partner. Results were further confirmed by reverse transcription-PCR, followed by FISH screening the entire cohort of FUS-rearranged and EWSR1-positive ME …

Pathological And Molecular Evaluation Of Pancreatic Neoplasms, A. Rishi, M. Goggins, L. D. Wood, R. H. Hruban

Journal Articles

Pancreatic neoplasms are morphologically and genetically heterogeneous and include a wide variety of tumors ranging from benign to malignant with an extremely poor clinical outcome. Our understanding of these pancreatic neoplasms has improved significantly with recent advances in cancer sequencing. Awareness of molecular pathogenesis brings new opportunities for early detection, improved prognostication, and personalized gene-specific therapies. Here we review the pathological classification of pancreatic neoplasms from the molecular and genetic perspectives.

Multiple Radiolucencies Of The Jaws In A 6 Year Old, J.T. Hansford, R.D. Kelsch, M. Wiltz

Journal Articles

No abstract provided.

An Immunohistochemical Analysis Of Stathmin 1 Expression In Uterine Smooth Muscle Tumors: Differential Expression In Leiomyosarcomas And Leiomyomas, M. M. Allen, J. J. Douds, S. X. Liang, M. M. Desouki, V. Parkash, O. Fadare

Journal Articles

The oncogenic phosphatidylinositol 3-kinase-AKT-mammlian target of rapamycin pathway (PI3K-AKT-mTOR) pathway is known to be activated in uterine smooth muscle tumors, and Stathmin 1 (STMN1) expression has been identified as a marker of PI3K-AKT-mTOR pathway activation. We hypothesized that STMN1 may have some diagnostic utility and explored how well STMN1 expression correlated with histologic classifications of uterine smooth muscle tumors into benign and malignant groupings. 84 smooth muscle tumors were assessed for STMN1 expression by immunohistochemistry. These included spindle cell leiomyosarcoma (n=32), conventional spindle cell leiomyomas (n=30), atypical (symplastic) leiomyoma (n=5), cellular leiomyoma (n=7), smooth muscle tumor of uncertain malignant potential …

Loss Of Plzf Expression In Prostate Cancer By Immunohistochemistry Correlates With Tumor Aggressiveness And Metastasis, G. Q. Xiao, P. Unger, Q. Yang, Y. Kinoshita, K. Singh, L. Mcmahon, K. Nastiuk, K. Sha, J. Krolewski, D. Burstein

Journal Articles

PLZF is a transcription repressor, which plays a critical role in development, spermatogenesis and oncogenesis. Down-regulation of PLZF has been found in various tumor cell lines. There has been virtually no tissue study on the expression of PLZF in prostate cancer (PCa). PCa is a heterogeneous disease, most of which are indolent and non-lethal. Currently there are no biomarkers that distinguish indolent from aggressive PCa; therefore there is an urgent need for such markers to provide clinical decision support. This study aimed to investigate the expression of PLZF by immunohistochemistry in different grade as well as metastatic PCa and to …

Quality Control Material For The Detection Of Somatic Mutations In Fixed Clinical Specimens By Next-Generation Sequencing, Catherine I. Dumur, Jorge A. Almenara, Celeste N. Powers, Andrea Ferreira-Gonzalez

Pathology Publications

Background

Targeted next generation sequencing (NGS) technology to assess the mutational status of multiple genes on formalin-fixed, paraffin embedded (FFPE) tumors is rapidly being adopted in clinical settings, where quality control (QC) practices are required. Establishing reliable FFPE QC materials for NGS can be challenging and/or expensive. Here, we established a reliable and cost-effective FFPE QC material for routine utilization in the Ion AmpliSeq™ Cancer Hotspot Panel v2 (CHP2) assay.

Methods

The performance characteristics of the CHP2 assay were determined by sequencing various cell line mixtures and 55 different FFPE tumors on the Ion Torrent PGM platform. A FFPE QC …

An Innovative Interactive Modeling Tool To Analyze Scenario-Based Physician Workforce Supply And Demand, Saurabh Gupta, W. Stephen Black-Schaffer, James M. Crawford, David Gross, Donald S. Karcher, Jill Kaufman, +13 Additional Authors

Pathology Faculty Publications

Effective physician workforce management requires that the various organizations comprising the House of Medicine be able to assess their current and future workforce supply. This information has direct relevance to funding of graduate medical education. We describe a dynamic modeling tool that examines how individual factors and practice variables can be used to measure and forecast the supply and demand for existing and new physician services. The system we describe, while built to analyze the pathologist workforce, is sufficiently broad and robust for use in any medical specialty. Our design provides a computer-based software model populated with data from surveys …

The Transcriptional Profile Of Coronary Arteritis In Kawasaki Disease., Anne H Rowley, Kristine M Wylie, Kwang-Youn A Kim, Adam J Pink, Amy Yang, Jan M. Orenstein, +6 Additional Authors

Pathology Faculty Publications

BACKGROUND: Kawasaki Disease (KD) can cause potentially life-threatening coronary arteritis in young children, and has a likely infectious etiology. Transcriptome profiling is a powerful approach to investigate gene expression in diseased tissues. RNA sequencing of KD coronary arteries could elucidate the etiology and the host response, with the potential to improve KD diagnosis and/or treatment.

METHODS: Deep RNA sequencing was performed on KD (n = 8) and childhood control (n = 7) coronary artery tissues, revealing 1074 differentially expressed mRNAs. Non-human RNA sequences were subjected to a microbial discovery bioinformatics platform, and microbial sequences were analyzed by Metastats for association …

Brca1 185delag Mutation Enhances Interleukin-1Β Expression In Ovarian Surface Epithelial Cells, Kamisha T. Woolery, Mai Mohamed, Rebecca J. Linger, Kimberly P. Dobrinski, Jesse Roman, Patricia A. Kruk

Pathology and Cell Biology Faculty Publications

Familial history remains the strongest risk factor for developing ovarian cancer (OC) and is associated with germline BRCA1 mutations, such as the 185delAG founder mutation. We sought to determine whether normal human ovarian surface epithelial (OSE) cells expressing the BRCA1 185delAG mutant, BRAT, could promote an inflammatory phenotype by investigating its impact on expression of the proinflammatory cytokine, Interleukin-1β (IL-1β). Cultured OSE cells with and without BRAT were analyzed for differential target gene expression by real-time PCR, western blot, ELISA, luciferase reporter, and siRNA assays. We found that BRAT cells expressed increased cellular and secreted levels of …

Tp53 And Mdm2 Single Nucleotide Polymorphisms Influence Survival In Non-Del(5q) Myelodysplastic Syndromes, Kathy L. Mcgraw, Thomas Cluzeau, David A. Sallman, Ashley A. Basiorka, Brittany A. Irvine, Ling Zhang, P.K. Epling-Burnette, Dana E. Rollison, Mar Mallo, Lubomir Sokol, Francesc Solé, Jaroslaw Maciejewski, Alan F. List

Pathology and Cell Biology Faculty Publications

P53 is a key regulator of many cellular processes and is negatively regulated by the human homolog of murine double minute-2 (MDM2) E3 ubiquitin ligase. Single nucleotide polymorphisms (SNPs) of either gene alone, and in combination, are linked to cancer susceptibility, disease progression, and therapy response. We analyzed the interaction of TP53 R72P and MDM2 SNP309 SNPs in relationship to outcome in patients with myelodysplastic syndromes (MDS). Sanger sequencing was performed on DNA isolated from 208 MDS cases. Utilizing a novel functional SNP scoring system ranging from +2 to −2 based on predicted p53 activity, we found statistically significant differences …

Ceftriaxone-Resistant Salmonella Enterica Serotype Typhimurium Sequence Type 313 From Kenyan Patients Is Associated With The Blactx-M-15 Gene On A Novel Inchi2 Plasmid, Samuel Kariuki, Chinyere Okoro, John Kiiru, Samuel Njoroge, Geoffrey Omuse, Gemma Langridge, Robert A. Kingsley, Gordon Dougan, Gunturu Revathi

Pathology, East Africa

Multidrug-resistant bacteria pose a major challenge to the clinical management of infections in resource-poor settings. Although nontyphoidal Salmonella (NTS) bacteria cause predominantly enteric self-limiting illness in developed countries, NTS is responsible for a huge burden of life-threatening bloodstream infections in sub-Saharan Africa. Here, we characterized nine S. Typhimurium isolates from an outbreak involving patients who initially failed to respond to ceftriaxone treatment at a referral hospital in Kenya. These Salmonella enterica serotype Typhimurium isolates were resistant to ampicillin, chloramphenicol, cefuroxime, ceftriaxone, aztreonam, cefepime, sulfamethoxazole-trimethoprim, and cefpodoxime. Resistance to β-lactams, including to ceftriaxone, was associated with carriage of a combination …

Proceedings Of The African Pathologists Summit; March 22-23, 2013; Dakar, Senegal: A Summary, Shahin Sayed

Pathology, East Africa

Context: This report presents the proceedings of the African Pathologists Summit, held under the auspices of the African Organization for Research and Training in Cancer.

Objectives: To deliberate on the challenges and constraints of the practice of pathology in Sub-Saharan Africa and the avenues for addressing them.

Participants: Collaborating organizations included the American Society for Clinical Pathology; Association of Pathologists of Nigeria; British Division of the International Academy of Pathology; College of Pathologists of East, Central and Southern Africa; East African Division of the International Academy of Pathology; Friends of Africa-United States and Canadian Academy of Pathology Initiative; International Academy …

Reassessment Of Risk Genotypes (Grn, Tmem106b, And Abcc9 Variants) Associated With Hippocampal Sclerosis Of Aging Pathology, Peter T. Nelson, Wang-Xia Wang, Amanda B. Partch, Sarah E. Monsell, Otto Valladares, Sally R. Ellingson, Bernard R. Wilfred, Adam C. Naj, Li-San Wang, Walter A. Kukull, David W. Fardo

Pathology and Laboratory Medicine Faculty Publications

Hippocampal sclerosis of aging (HS-Aging) is a common high-morbidity neurodegenerative condition in elderly persons. To understand the risk factors for HS-Aging, we analyzed data from the Alzheimer’s Disease Genetics Consortium and correlated the data with clinical and pathologic information from the National Alzheimer’s Coordinating Center database. Overall, 268 research volunteers with HS-Aging and 2,957 controls were included; detailed neuropathologic data were available for all. The study focused on single-nucleotide polymorphisms previously associated with HS-Aging risk: rs5848 ( GRN ), rs1990622 ( TMEM106B ), and rs704180 ( ABCC9 ). Analyses of a subsample that was not previously evaluated (51 HS-Aging cases …

Clinical Isolates Of Salmonella Enterica Serovar Agona Producing Ndm-1 Metallo-Beta-Lactamase: First Report From Pakistan, Seema Irfan, Erum Khan, Kauser Jabeen, Pushpa Bhawan, Katie L. Hopkins, Martin Day, Amna Nasir, Daniele Meunier, Neil Woodford

Department of Pathology and Laboratory Medicine

We report two cases of infantile diarrhea due to multidrug-resistant, NDM-1 metallo-beta-lactamase-producing Salmonella enterica serovar Agona from Pakistan. This study alerts toward possible risk of NDM-1 transmission to enteric fever pathogens and encourages microbiologists to consider active screening of carbapenem resistance in nontyphoidal Salmonella isolates.

Clinical And Pathologic Significance Of Integrin Α6Β4 Expression In Human Malignancies, Rachel L. Stewart

Theses and Dissertations--Clinical and Translational Science

Integrins are cellular adhesion molecules that bind cells to the extracellular matrix. The integrin α6β4, a receptor for laminins, is predominantly expressed on epithelial cells where it is present at the basal surface adjacent to the basement membrane. This integrin plays a critical role in maintaining normal cellular functions, yet has also been implicated in promoting invasion and metastasis in human malignancies. While overexpression of the integrin α6β4 has been detected in select human cancers, the clinical significance of integrin α6β4 expression in a number of malignancies has not been determined. The purpose of this study was to examine integrin …

Serine Palmitoyltransferase And Giardial Encystation, Monica Delgado

Open Access Theses & Dissertations

Giardia lamblia is a flagellated protozoan parasite responsible for chronic diarrheal disease in humans and animals. Giardia has minimal lipid synThesis machinery and the majority of its lipids are obtained from the small intestine of humans where the trophozoites colonize. Recent results from our laboratory indicate that sphingolipids (SLs) are also important for Giardia and they regulate encystation and cyst production. Only five SL genes are present in this parasite and they are differentially regulated during encystation. In my studies, I found that giardial serine palmitoyltransferase (gSPT) activity is upregulated in encysting cells, suggesting it might play an important role …

Hospital Preparedness In Community Measles Outbreaks-Challenges And Recommendations For Low-Resource Settings, Sadia Shakoor, Fatima Mir, Anita Zaidi, Afia Zafar

Department of Pathology and Laboratory Medicine

We have reviewed various strategies involved in containment of measles in healthcare facilities during community outbreaks. The strategies that are more applicable to resource-poor settings, such as natural ventilation, mechanical ventilation with heating and air-conditioning systems allowing unidirectional air-flow, and protection of un-infected patients and healthcare workers (HCWs), have been examined. Ventilation methods need innovative customization for resource-poor settings followed by validation and post-implementation analysis for impact. Mandatory vaccination of all HCWs with two doses of measles-containing vaccine, appropriate post-exposure prophylaxis of immunocompromised inpatients, and stringent admission criteria for measles cases can contribute toward reduction of nosocomial and secondary transmission …

Gastrointestinal Stromal Tumors: A Clinicopathologic And Risk Stratification Study Of 255 Cases From Pakistan And Review Of Literature, Nasir Ud Din, Zubair Ahmad, Huma Arshad, Romana Idrees, Naila Kayani

Department of Pathology and Laboratory Medicine

Purpose:
To describe the clinicopathological features of gastrointestinal stromal tumors (GIST) diagnosed in our section and to perform risk stratification of our cases by assigning them to specific risk categories and groups for disease progression based on proposals by Fletcher et al and Miettinen and Lasota.
Material and Results:
We retrieved 255 cases of GIST diagnosed between 2003 and 2014. Over 59% were male. The age range was 16 to 83 years with a mean of 51 years. Over 70% occurred between 40 and 70 years of age. Average diameter of tumors was 10 cms. The stomach was the most …

Hiv Prevalence In Blood Donors And Recipients In Pakistan: A Meta-Analysis And Analysis Of Blood-Bank Data, Bushra Moiz, Barkat Ali, Muhammad Hasnain Chatha, Ahmed Raheem, Hasan Abbas Zaheer

Department of Pathology and Laboratory Medicine

Background:
The first instances of HIV-antibody detection in donated blood in Pakistan were reported in 1988. Since then, documentation of HIV in blood donors and of rates of transmission via transfusion has been limited. Previously assumed to have a low prevalence, HIV is an increasing health concern in Pakistan. Since there is no national, centralized blood-banking system, there are no reliable data on which to base estimated risks of transfusion-associated HIV infection. This study was therefore conducted to estimate the prevalence of HIV in blood donors and recipients in Pakistan between 1988 and 2012.
Methods:
Meta-analyses were undertaken of reported …

Mammary-Type Myofibroblastoma Of The Right Thigh: A Case Report And Review Of The Literature, Jamshid Abdul-Ghafar, Nasir Ud Din, Zubair Ahmad, Steven D. Billings

Department of Pathology and Laboratory Medicine

Introduction:
Mammary-type myofibroblastoma of the soft tissue is a very rare, benign, mesenchymal neoplasm with myofibroblastic differentiation. To date, 20 cases of extra-mammary myofibroblastoma have been described in literature. To the best of our knowledge, this is the largest extra-mammary myofibroblastoma described in the literature, and the first case reported in this location.
Case Presentation:
A 50-year-old Pakistani man presented with a long history of a painless, huge lump on his right thigh. His clinical examination showed normal-looking skin and there was no inguinal lymphadenopathy. The mass was excised with a clinical impression of soft tissue sarcoma. Gross examination showed …

Bordetella Petrii Recovered From Chronic Pansinusitis In An Adult With Cystic Fibrosis, Laura Biederman, Marc Rosen Md, Brent S. Bobik, Amity L. Roberts, Phd, D(Abmm)

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

No abstract provided.

Rhesus And Kell Phenotyping Of Voluntary Blood Donors: Foundation Of A Donor Data Bank, Farheen Karim, Bushra Moiz, Fahmida Jan Muhammad, Fatima Ausat, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

OBJECTIVE: To assess the Rhesus (Rh) and Kell (K) phenotype of voluntary blood donors and lay foundation of a data bank of voluntary blood donors. STUDY DESIGN: Cross-sectional study.
PLACE AND DURATION OF STUDY: Blood Bank, The Aga Khan University Hospital, Karachi, in the year 2014.
METHODOLOGY: Voluntary blood donors were inducted after taking written informed consent. Three -5cc of EDTA anticoagulated blood sample was taken to phenotype red cells for C, c, E, e, and Kell antigens using antisera. [DiaMedSwitzerland].
RESULTS: Hundred blood donors were included in the study. ABO blood groups of the donors were: O …

Cryptococcus Neoformans And Streptococcus Pneumoniae Co-Infection In Post-Traumatic Meningitis In A Patient With Unknown Hiv Status, Faryal Saleem, Naima Fasih, Afia Zafar

Department of Pathology and Laboratory Medicine

Meningitis is a serious disease associated with considerable morbidity and mortality. Mixed meningeal infections due to bacteria and fungi are exceptionally rare. Here we report a case of meningeal co-infection with cryptococcus neoformans and streptococcus pneumoniae in a patient with unknown human immunodeficiency virus status. Because of the rarity of such cases, stringent screening of every cerebrospinal fluid specimen to exclude the presence of multiple pathogens is imperative. Assessment of patients for immunodeficiencies in case of isolation of an opportunistic organism like cryptococcus is also needed.

Urological Pathology, Andrew Renshaw

All Publications

No abstract provided.