Medical Anatomy Commons^™

Genome Editing Technology, Crispr Cas-9, Provides A Potential Future For Xenotransplantation: Can Pigs Become Our New Organ Donors?, Shelby Smith, Bs, Emanual Rubin, Md

Department of Pathology Honors Program Student Research Symposium

Organ shortage has been a significant issue in United States for many decades. There were over 116,000 people on the transplant waiting list as of August 2017, with a new person added every 10 minutes. Animals have been considered as potential organ donors for humans, with the pig being the most ideal candidate because of its excellent breeding profile, low maintenance costs, large litters, rapid growth and organ similarity. A notable challenge that comes with porcine organs are endogenous retroviruses that establish themselves in the DNA of offspring in utero, thereby allowing for no time to prevent infection and integration. …

Acquired Resistance Mutations To Egfr Treatment In Non-Small Cell Lung Cancer, Benjamen Schoenberg, Gregory Omerza, Phd

Department of Pathology Honors Program Student Research Symposium

Non-small cell lung cancer (NSCLC) is currently the number one cause of cancer death in the United States for both men and women.1 Mutations in the epidermal growth factor receptor (EGFR) gene are detected in approximately 30% of individuals with advanced NSCLC in Asia and 10-15% in Western countries.2 For patients harboring activating EGFR mutations, treatment includes the use of first or second-generation EGFR-tyrosine kinase inhibitors (EGFR-TKIs), such as afatinib, gefitinib, or erlotinib.

The purpose of this case study is to review the pathophysiology of the progression of NSCLC in a 63-year-old non-smoking Caucasian woman. The patient presented with worsening …

A New Frontier In Breast Cancer Management: Oncotype Dx, Gabriella Rollo, Jeremy Molligan, Md, Juan P. Palazzo, Md

Department of Pathology Honors Program Student Research Symposium

Diagnosing and prognosticating breast cancer has traditionally relied upon histomorphologic analysis and immunohistochemistry. With the recent advent of multigene molecular assays, traditional methods are being augmented with molecular biomarkers. Implementation of the Oncotype DX assay has led to a change in treatment of patients with early stage, estrogen positive cancer. Oncotype DX uses the expression of 21 genes at the mRNA level to determine a 10 year recurrence risk in node negative and 5 year recurrence risk in node positive cancer. 16 malignancy markers related to estrogen, HER2, cell proliferation, and invasion potential are compared with 5 reference genes and …

Primary Cns Small Mature B-Cell Lymphoma With Plasmacytic Differentiation Presenting As An Amyloidoma: A Case Report And Review Of Literature, Andrew Lynch, Geetha Jagannathan, Md

Department of Pathology Honors Program Student Research Symposium

Primary central nervous system lymphomas (PCNSL) without systemic involvement are rare and account for only 2-3% of all brain tumors and <1% of all non-Hodgkin’s lymphoma (NHL). Close to 40% of PCNSL are associated with immunosuppression, however, the incidence of primary central nervous system (CNS) lymphomas has shown an increasing trend in immunocompetent patients in recent decades due to better control of HIV and drug-induced immunosuppression [2]. Here, we describe a case of a primary CNS non-Hodgkin’s small mature B-cell lymphoma with plasmacytic differentiation in an immunocompetent individual. A previously healthy 87-year-old Caucasian woman presented to the neurology clinic with complaints of slowly progressing left sided weakness, predominantly in the left arm and leg over the last 6 months. Magnetic resonance imaging of the brain revealed a large, confluent white matter T2-hyperintensity in the right frontal lobe with multifocal nodular enhancement involving the left cerebral hemisphere, cerebellum, and leptomeninges, consistent morphologically with lymphoplasmacytic lymphoma. A bone marrow biopsy showed normal trilineage hematopoiesis with no evidence of lymphoma, myeloma or amyloidosis. Our patient was treated with Rituximab but developed an ischemic infarct of the left frontal white matter. She and her family decided to forego further treatment and switch to hospice care.

Ewing’S Sarcoma, Chris Lucasti, Bs, Bruce A. Fenderson, Phd

Department of Pathology Honors Program Student Research Symposium

Ewing’s sarcoma is the second most common malignant tumor of the bone occurring in children and adolescents. Typically, patients present between the ages of 10 and 20, with the disease having a slight predilection for males.1 Tumors often arise in the mid-shaft with the femur being the most frequently affected bone. The most common chromosome translocation, t(11;22)(q24;q12), occurs between the EWS gene and the FLI-1 gene. This translocation has been implicated in these aggressive and malignant tumors.1–4 Oftentimes, patients present with pain and swelling in the area of the affected bone or joint.5 While there has been some improvement in …

Clinico-Pathological Features And Pd-1/Pd-L1 Expression In Primary Mediastinal Large B Cell Lymphoma, Lydia Glick, Geetha Jagannathan, Md, Guldeep Uppal, Md

Department of Pathology Honors Program Student Research Symposium

Primary Mediastinal Large B Cell Lymphoma (PMBCL) is a distinct subtype of Diffuse Large B Cell Lymphoma (DLBCL) that has been historically reported to have a worse prognosis than DLBCL. Occasional studies have reported PD-L1 expression in PMBCL, which can emerge as an important target for immune-check point therapy. This study aimed to evaluate clinico-pathological features and characterize the expression of PD-1 and PD-L1 in a single cohort of 15 patients with PMBCL.

A total of 15 cases of PMBCL were retrieved from records of the department of Pathology; eleven of these had tissue available for additional immunohistochemistry, specifically, PD-L1 …

Comparative Analysis Of Tumor Capsule Thickness And Other Histologic Features In Encapsulated Follicular Variant Of Papillary Thyroid Carcinoma (Efvptc) And Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (Niftp), Brenda French, Stacey K. Mardekian, Md

Department of Pathology Honors Program Student Research Symposium

Recent reclassification of a subset of non-invasive encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) tumors as non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) has led to important changes in the clinical management of patients with these indolent lesions. Although there are established diagnostic criteria to differentiate NIFTP from EFVPTC, our objective was to determine further differences in histological characteristics between NIFTP and noninvasive EFVPTC. Additionally, we sought to identify histological differences between non-invasive and invasive EFVPTC lesions beyond the key finding of invasion. 68 encapsulated follicular lesions with papillary-like nuclear features from patients treated at Thomas Jefferson …

Implications Of Hobnail Features In Anaplastic Thyroid Carcinoma And Precursor Lesions, Caroline Dunne, Ba, Stacey K. Mardekian, Md

Department of Pathology Honors Program Student Research Symposium

Anaplastic thyroid carcinoma (ATC) has the poorest prognosis of all thyroid cancers. Morphologically, it is characterized by pleomorphic undifferentiated cells. In some cases, a differentiated precursor lesion, either papillary thyroid carcinoma (PTC) or follicular thyroid carcinoma, can be identified adjacent to the anaplastic component. There are certain morphological variants of PTC that are known to be associated with more aggressive behavior, but a recently described, understudied variant is the hobnail variant. It is characterized histologically by micropapillary structures lined by cells with abundant eosinophilic cytoplasm and apically-placed bulging nuclei. The aim of this study was to evaluate the frequency of …

Atypical Presentation Of Upshaw Schulman Syndrome: A Case Report, Goutham Ravipati, Bs, David Strayer, Md, Phd, Douglas Drelich, Md

Department of Pathology Honors Program Student Research Symposium

Thrombotic thrombocytopenic purpura (TTP) is a rare coagulation disorder with a typical clinical presentation of low platelets and excessive clotting. Mortality for this disorder may be high if untreated and therefore necessitates a high clinical suspicion. Here we describe a 46-year-old African American woman with a past medical history of multiple cerebrovascular accidents presenting to hematology after a suspected diagnosis of TTP. Presumptive diagnosis of acquired TTP called for treatment with IVIg, but a diagnosis of congenital TTP (Upshaw Schulman syndrome) was made after testing showed a lack of ADAMTS13 antibodies. Treatment with fresh frozen plasma (FFP) showed increase in …

Determining The Role Of Point-Of-Care Hemoglobin Testing In The Resuscitation Of Acutely Hemorrhaging Patients, Eugene P. Warnick, Alexis R. Peedin, Md

Department of Pathology Honors Program Student Research Symposium

Point-of-care hemoglobin (Hb) testing has not been evaluated in the resuscitation of acutely hemorrhaging patients to guide transfusion therapy. This study assessed the correlation of Hb values determined by point-of-care (EPOC) and traditional laboratory (CBC) methods in patients undergoing massive transfusion. All patients transfused per the massive transfusion protocol (MTP) between February 2013 and October 2017 were identified. The EPOC result was most often within 1 g/dL of the CBC result when EPOC resulted in a Hb between 7-10 g/dL and when drawn within 15 minutes of the CBC specimen. In patients on MTP with an EPOC Hb between 7-10 …

Metastatic Lobular Breast Carcinoma In A Meningioma: A Case Study, Sara Chapin, Msii, Lawrence C. Kenyon, Md, Phd

Department of Pathology Honors Program Student Research Symposium

Hormonal relationships between breast carcinoma and meningioma have long been reported in the literature. This association may be related to the widespread expression of progesterone receptors in meningiomas. Indeed, meningiomas are more common in women and may demonstrate increased growth during pregnancy. Women have an increased risk of meningioma following breast carcinoma diagnosis and vice versa. However, much more uncommon is a tumor to tumor metastases of breast carcinoma into a meningioma. We report a case of a 56 year old female with a past medical history of breast cancer, found to have a right sphenoorbital meningioma with metastatic lobular …

Self-Directed Learning Modules Enhance Mastery Of Diagnostic Imaging In Dissection-Based Anatomy Course For Physician Assistant Students, Guiyan Zhang, Bruce Fenderson, Xuan Zuo

Department of Pathology, Anatomy, and Cell Biology Posters

Abstract

The virtues of using computer-based learning modules as an alternative to traditional didactic lectures were tested in a human anatomy course for Physician Assistant (PA) students. Self-directed learning modules on diagnostic imaging were created using ArticulateTM software and provided online as homework assignments for PA students taking a human anatomy lecture and dissection laboratory course. These interactive self-learning modules replaced the content of traditional didactic lectures on the same topics that had been given in previous years. For the PA class of 2016 (n=103), diagnostic imaging was taught via traditional lectures, whereas for the PA class of 2017 (n=100), …

Induction Of Immune Surveillance Of The Dysmorphogenic Lens., Caitlin M. Logan, Caitlin J. Bowen, A. Sue Menko

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The lens has been considered to be an immune privileged site not susceptible to the immune processes normally associated with tissue injury and wound repair. However, as greater insight into the immune surveillance process is gained, we have reevaluated the concept of immune privilege. Our studies using an N-cadherin lens-specific conditional knockout mouse, N-cadΔlens, show that loss of this cell-cell junctional protein leads to lens degeneration, necrosis and fibrotic change, postnatally. The degeneration of this tissue induces an immune response resulting in immune cells populating the lens that contribute to the development of fibrosis. Additionally, we demonstrate that the lens …

Ros Control Mitochondrial Motility Through P38 And The Motor Adaptor Miro/Trak., Valentina Debattisti, Akos A. Gerencser, Masao Saotome, Sudipto Das, György Hajnóczky

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondrial distribution and motility are recognized as central to many cellular functions, but their regulation by signaling mechanisms remains to be elucidated. Here, we report that reactive oxygen species (ROS), either derived from an extracellular source or intracellularly generated, control mitochondrial distribution and function by dose-dependently, specifically, and reversibly decreasing mitochondrial motility in both rat hippocampal primary cultured neurons and cell lines. ROS decrease motility independently of cytoplasmic [Ca2+], mitochondrial membrane potential, or permeability transition pore opening, known effectors of oxidative stress. However, multiple lines of genetic and pharmacological evidence support that a ROS-activated mitogen-activated protein kinase (MAPK), p38α, is …

A Comparative Analysis Of The Paris System And Institutional Reporting System For Urine Cytology In Upper Tract Urothelial Specimens, Kim Hookim, Md, James P. Casey, Md, Rossitza Draganova-Tacheva, Md, Marluce Bibbo, Md, Charalambos C. Solomides, Md

Department of Pathology, Anatomy, and Cell Biology Posters

The authors of this abstract have no conflicts of interest

Introduction

Cytology is integral in the assessment of urothelial cell carcinoma (UCC). However, upper urinary tract (UUT) specimens are cytologically challenging due to limited tissue and reactive atypia. At our institution UUT biopsies are processed as cell blocks (CB). We compared our institution’s reporting system (IRS) with the recently proposed Paris System for Reporting Urine Cytology (PRS) (Table 1) in UUT specimens and correlated the findings with CB and follow-up resections.

Increased Density Of Axonal Spheroids In The Nucleus Gracilis Of The Lower Brainstem In Diabetic Versus Non-Diabetic Patients, Tiffany Morrison, Msiv, Lawrence C. Kenyon, Md, Phd

Department of Pathology, Anatomy, and Cell Biology Posters

Abstract

The presence of axonal spheroids is unusual in the absence of a clinical history of CNS injury. Nevertheless, increased numbers of axonal spheroids in the lower brainstem have been consistently observed in autopsied diabetic patients. A prospective comprehensive investigation of the density, size, and distribution of axonal spheroids in the brainstem and spinal cord was undertaken in 22 patients and correlated with comorbidities, age, and gender. In most cases, an increased density of axonal spheroids was identified within the nucleus gracilis of the lower brainstem. Moreover, the highest densities (p = 0.013) and circumferences (p = 0.002) of axonal …

Microscopic Examination Of Findings Encountered During Cadaver Dissection: Malignant, Benign Or Anatomic Variation?, Maria Cicioni, Vandi Ly, Guiyun Zhang, Bruce Fenderson

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Pathologic findings encountered during cadaver dissection provide an opportunity for integrating the preclinical basic sciences and encouraging critical thinking. The objective of this study was to determine whether it is possible to make a pathologic diagnosis of an unknown mass from an embalmed cadaver. Diagnoses would have to be based solely on gross and microscopic appearance of tissue, without clinical histories of the cadaveric donors. The tissue samples we removed from each mass were surprisingly well preserved and showed minimal autolysis. Indeed, some of the histological detail was as clear as may be found in any textbook. We were able …

Calcium Uptake Hotspots In The Mitochondria Of Cardiac Muscle At The Interface With Dyadic Sr, Sergio De La Fuente, Celia Fernandez-Sanz, Caitlin Vail, Elorm J. Agra, Kira Holmstrom, Junhui Sun, Jyotsna Mishra, Toren Finkel, Elizabeth Murphy, Suresh K. Joseph, Shey-Shing Sheu, György Csordás

Department of Pathology, Anatomy, and Cell Biology Posters

Introduction

• Control of the mitochondrial ATP production by SR-derived Ca2+ signals includes local, nanodomain Ca2+ transfer from ryanodine receptors (RyR2) to the mitochondrial matrix (excitation-bioenergetics coupling).

• Ca2+ crosses the inner mitochondrial membrane (IMM) via the mtCU, a low-affinity Ca2+-activated Ca2+ channel complex.

• The surface area of cardiac IMM is extensively enhanced by cristae folding; however, mitoplast patch clamp studies showed mtCU current density the lowest amongst a range of tissues (Fieni 2012. Nat Commun).

Activated Clotting Time (Act): Comparison Of The Hemochron Signature Elite And The Abbott I-Stat, Lilah Evans, Susanne Gallo, Joseph J. Leo, Barbara Goldsmith, Phd, Facb

Department of Pathology, Anatomy, and Cell Biology Posters

BACKGROUND

ACT is commonly used for heparin anticoagulation monitoring during procedures including cardiopulmonary bypass surgery, coronary angioplasty, and interventional radiology. To prevent thrombosis, moderate to high levels of heparin anticoagulation are required. The Hemochron Signature Elite (HSE, Accriva Diagnostics, formerly ITC, San Diego, CA) was implemented at TJUH as a replacement for the older model Hemochron Response (Accriva/ITC Model HRS.110, San Diego, CA). Operating room (OR) perfusionists reported irreproducible high results using HSE that could not be explained clinically. In consideration of use of i-STAT analyzers (Abbott Point of Care, Princeton, NJ) as an alternative to HSE, we performed a …

Performance Of Creatinine And Chloride On The Epoc Analyzer, Lilah Evans, Susanne Gallo, Stacey K. Mardekian, Barbara Goldsmith, Phd, Facb

Department of Pathology, Anatomy, and Cell Biology Posters

BACKGROUND

The epoc Blood Analysis System (Alere, Orlando, FL) performs blood gases, electrolytes, and metabolites using a Blood Gas Electrolyte and Metabolite (BGEM) Test Card panel on 92 uL of whole blood. The BGEM test card uses potentiometric sensors to measure sodium, potassium, ionized calcium, pH, pCO2; amperometric sensors to measure pO2, glucose, and lactate; and a conductometric sensor to measure hematocrit. Results are available in 3-10 minutes, depending upon the time between calibration and patient testing. TJUH implemented the epoc in its ICUs in 2012 to provide Point of Care (POC) results. Alere recently added creatinine and chloride sensors …

Use Of Propensity Score Matching To Identify A Strong Association Between Strategic Concentration To Mitochondria-Sr Associations Of The Mitochondrial Ca2+ Uniporter: Ca2+ Uptake Hotspots In The Cardiac Mitochondria, Sergio De La Fuente, Caitlin Vail, Elorm J. Agra, Kira Holmstrom, Junhui Sun, Jyotsna Mishra, Toren Kinkel, Elizabeth Murphy, Suresh K. Joseph, Shey-Shing Shen, György Csordás

Department of Pathology, Anatomy, and Cell Biology Posters

Introduction:

• Control of the mitochondrial ATP production by SR-derived Ca²⁺ signals includes local, nanodomain Ca²⁺ transfer from ryanodine receptors (RyR2) to the mitochondrial matrix (excitation-bioenergetics coupling).
• Ca²⁺ crosses the inner mitochondrial membrane (IMM) via the mtCU, a low-affinity Ca²⁺-activated Ca²⁺ channel complex.
• The surface area of cardiac IMM is extensively enhanced by cristae folding; however, mitoplast patch clamp studies showed mtCU current density the lowest amongst a range of tissues (Fieni 2012. Nat Commun).

Gaining Competencies During Early Medical Training: Medical Students As Teaching Assistants In Dissection-Based Anatomy Course, Martin T. Brown, Bruce Fenderson, Guiyan Zhang

Department of Pathology, Anatomy, and Cell Biology Posters

Introduction and Objectives

• In 2002, ACGME identified six ACGME Core Competencies: patient care; medical knowledge; practice-based learning and improvement; interpersonal and communication skills; professionalism; and systems-based practice.
• AAMC recommended lists of similar competencies for the curricula of medical schools. Competency based curricula have been widely implemented in medical schools.
• Effective shifting in the graduate medical educational programs has been reported in various clinical specialties.
• There is a lack of reported efforts and development on competency training in early preclinical years of medical education.

Objectives:

• To explore methods for strengthening medical students’ competency training during preclinical undergraduate medical education.
• To measure …

Microcystic, Elongated, And Fragmented (Melf) Pattern Invasion In Ovarian Endometrioid Carcinoma: Immunohistochemical Profile And Prognostic Implications, Allison F. Goldberg, Md, Lauren Cooper, Md, D. De Cotiis, Norman G. Rosenblum, Md, Phd, Joanna Chan, Md

Department of Pathology, Anatomy, and Cell Biology Resident's Posters

BACKGROUND

•Microcystic, Elongated and Fragmented (MELF) is a well-recognized pattern of uterine endometrioid carcinoma (UEC) associated with lymphovascular space invasion and occult lymph node metastasis

•MELF in UEC may be seen with Lynch Syndrome

•MELF in UEC is hypothesized to be histologic evidence of an epithelial mesenchymal transition

•MELF pattern invasion in ovarian endometrioid carcinoma (OEC) was first described at USCAP 2015 •

Current study evaluates MELF in OEC for

•Prognostic implications

•Immunohistochemical (IHC) profile related to

•Lynch Syndrome

•Epithelial mesenchymal transition

DESIGN

•42 consecutive cases of OEC without concurrent UEC (1996-2014) evaluated by 2 pathologists

•MELF defined as at …

Two Separate Colorectal Granular Cell Tumors: A Case Report, Danica N. Giugliano, Md, Danielle Fortuna, Md, Scott D. Goldstein, Md, Benjamin Philllips, Md, Gerald A. Isenberg, Md

Department of Surgery Posters

Introduction, Case Report, Discussion, Conclusion and References.

In-Silico Identification Of Prognostically Inversely Correlated Mirnas And Mrnas (Pic’S) In Multiple Cancers, Chirayu Pankaj Goswami, Zi-Xuan Wang

Department of Pathology, Anatomy, and Cell Biology Posters

Despite numerous methods available to identify potential mRNA targets for miRNAs, prognostic relationship of these molecules in diseases like cancers where deregulation of gene expression is a major pathogenic factor, has not yet been emphasized. We performed in-silico identification of prognostically inversely correlated miRNA - mRNA pairs (PIC’s) in multiple cancers using expression data from The Cancer Genome Atlas. Partners in a PIC show inverse correlation of expression and opposite hazard implication. Using a three step approach, we identified a total of 1,253,443 PIC’s from 23 cancer types, several of which have previously been shown to have a predicted or …

Turn-Around-Time Improvements For Positive Blood Cultures From Incorporation Of Workflow Modifications, Brent Bobik, Allison F. Goldberg, Md, P. Prior, Amity L. Roberts, Phd, D(Abmm)

Department of Pathology, Anatomy, and Cell Biology Resident's Posters

Background:

Emergence of direct from positive blood culture bottle identification (ID) methods reveal opportunities for improving bacterial ID and select resistance marker detection turn-around-times. Each system has various advantages and disadvantages; each institution must select the method/s that best fit the laboratory and patient needs. Here we elucidate improvements in 24 hour workflow through incorporating multiple rapid technologies for positive blood culture ID into a 24 hour algorithm.

Methods:

MALDI-TOF (Bruker) analysis with sepsityper extraction (aerobic Gram-positive and anaerobic bacteria); MALDI-TOF analysis with serum separator tube concentration (Gram-negative bacteria); and a FilmArray Blood Culture Panel (Biofire) were utilized. MALDI was …

Progtar: A Database Of Prognostically Inversely Correlated Mirnas And Genes (Pics) In Multiple Cancers, Chirayu Pankaj Goswami

Department of Pathology, Anatomy, and Cell Biology Posters

ABSTRACT

PROGTar is a database of Prognostically Inversely Correlated miRNA-mRNA pairs (PIC’s) in 23 cancer types. Partner miRNA and mRNA in a PIC show inverse correlation of expression and opposite hazards. We analyzed miRNA and mRNA expression data downloaded from The Cancer Genome Atlas (TCGA) in a 3 step approach to identify PICs in different cancer types. In first step we performed correlation analysis between miRNAs and mRNAs for each cancer type. This was followed by performing hazard analysis separately for miRNAs and mRNAs using expression data and survival related clinical variables. In the third step we merged the correlation …

Comprehensive Profiling Of Metaplastic Breast Carcinoma Reveals Frequent Over-Expression Of Pd-L1, Zoran Gatalica, Upasana Joneja, Md, Anatole Ghazalpour, Jeffrey Swensen, Rebecca Feldman, Fred Cai, Sting Chen, Nick Xiao, Sandeep Reddy, Semir Vranić

Department of Pathology, Anatomy, and Cell Biology Resident's Posters

Background:

Metaplastic breast carcinoma (MBC) is a rare subtype of breast carcinoma less responsive to conventional chemotherapy relative to usual breast carcinomas such as ductal and lobular subtype. In molecular terms, MBC usually clusters with triple negative breast cancers (TNBC), but MBCs portray a worse prognosis in comparison with TNBC. Published studies investigating MBCs for specific biomarkers of therapy response are rare and limited by the methodological approaches.

Methods:

297 samples [MBC (n=75), triple-negative breast cancer of no-special-type (TNBC-NOS, n=106), HER2-positive breast cancers (n=32) and luminal breast cancers (n=84)] were profiled using direct sequencing analysis [Illumina MiSeq Next Generation Sequencing …

T(3;8)(Q26;Q24) With Myc Rearrangement In Acute Myeloid Leukemia: A Case Report, Vandi Ly, Md, Renu Bajaj, Phd, Jerald Z. Gong, Md, Zi-Xuan Wang, Phd, Stephen C Peiper, Md, Guldeep Uppal, Md

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Rearrangements of 3q26 have been described in 5% of de novo or therapy related acute myeloid leukemia, myelodysplastic syndrome (MDS), and blast phase of chronic myeloid leukemia. The most common translocations involving 3q26 are t(3;12)(q26;p13), t(3;21)(q26;q22), t(3;3)(q21;q26), t(2;3)(p15∼23;q26∼27) and rarely t(3;7)(q26;q21). However, t(3;8)(q26;q24) with or without monosomy 7 is a rare phenomenon and has been reported in only 10 patients so far. Hereby, we describe a 58 year old patient who was diagnosed with refractory anemia with multilineage dysplasia. Cytogenetic studies revealed monosomy 7. He was then lost to follow-up. A year later he was found to have worsening cytopenias …

Strategic Distribution Of The Mitochondrial Ca2+ Uniporter In Cardiac Mitochondria, Sergio De La Fuente, Caitlin Vail, Elorm J. Agra, Kira Holmstrom, Junhui Sun, Jyotsna Mishra, Toren Finkel, Elizabeth Murphy, Shey-Shing Sheu, György Csordás

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Background:

1) Control of the mitochondrial ATP production by SR-derived Ca²⁺ signals includes local, nanodomain Ca²⁺ transfer from ryanodine receptors (RyR2) to the mitochondrial matrix (excitation-bioenergetics coupling).

2) Ca²⁺ crosses the inner mitochondrial membrane (IMM) via the mtCU, a low-affinity Ca²⁺-activated Ca²⁺ channel complex.

3) The surface area of cardiac IMM is extensively enhanced by cristae folding; however, mitoplast patch clamp studies showed mtCU current density the lowest amongst a range of tissues (Fieni 2012. Nat Commun).