Pathology Commons^™

Metabolic And Vascular Imaging Biomarkers In Down Syndrome Provide Unique Insights Into Brain Aging And Alzheimer Disease Pathogenesis, Elizabeth Head, David K. Powell, Frederick A. Schmitt

Pharmacology and Nutritional Sciences Faculty Publications

People with Down syndrome (DS) are at high risk for developing Alzheimer disease (AD). Neuropathology consistent with AD is present by 40 years of age and dementia may develop up to a decade later. In this review, we describe metabolic and vascular neuroimaging studies in DS that suggest these functional changes are a key feature of aging, linked to cognitive decline and AD in this vulnerable cohort. FDG-PET imaging in DS suggests systematic reductions in glucose metabolism in posterior cingulate and parietotemporal cortex. Magentic resonance spectroscopy studies show consistent decreases in neuronal health and increased myoinositol, suggesting inflammation. There are …

Comprehensive Review Of The Cardinal Ligament., Seif Eid, Joe Iwanaga, Rod J Oskouian, Marios Loukas, R Shane Tubbs

Articles, Abstracts, and Reports

The cardinal ligament is thought to be one of the important structures in providing support and stabilization for the pelvic organs e.g., the uterus. However, many discrepancies exist in the literature regarding terminology, anatomy, and histology. The cardinal ligament attaches the lateral side of the vagina and cervix to the lateral pelvic wall, which provides support to the vagina and cervix. Studies have shown variable findings in the collagen content and distribution in the cardinal ligaments of women with a prolapsed uterus. Uterine vessels and the branches of the inferior hypogastric plexus travel in the cardinal ligament, which is of …

The Deep Fascia Of The Forearm And The Ulnar Nerve: An Anatomical Study., Paul J Choi, Chidinma Nwaogbe, Joe Iwanaga, Georgi P Georgiev, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

Introduction A reoperation for a cubital tunnel syndrome is not uncommon. Patients often complain of sensorimotor symptoms in the ulnar nerve distribution after their primary surgery. The documented etiologies for such a phenomenon include a "new" kinking of the distal ulnar nerve and a "new" compression of the ulnar nerve by the fascial septum in between or tendinous bands over the muscles of the forearm. The deep fascial plane along which the ulnar nerve travels in the forearm has had scant attention. We present an anatomical study to provide a better understanding of such etiologies to aid physicians in performing …

Review Of The Variations Of The Superficial Veins Of The Neck., Dominic Dalip, Joe Iwanaga, Marios Loukas, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

The venous drainage of the neck can be characterized into superficial or deep. Superficial drainage refers to the venous drainage of the subcutaneous tissues, which are drained by the anterior and external jugular veins (EJVs). The brain, face, and neck structures are mainly drained by the internal jugular vein (IJV). The superficial veins are found deep to the platysma muscle while the deep veins are found encased in the carotid sheath. The junction of the retromandibular vein and the posterior auricular vein usually form the EJV, which continues along to drain into the subclavian vein. The anterior jugular vein is …

Ophthalmic Artery Aneurysm In A Cadaver: Case Report., Dominic Dalip, Joe Iwanaga, Marios Loukas, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

The ophthalmic artery arises from the supraclinoid segment of the internal carotid artery (ICA) and enters the orbit through the optic canal. It perfuses the orbit and the orbit apparatus. Ophthalmic artery aneurysms (OAA) account for 0.5% to 11% of all intracerebral aneurysms. Patients are usually asymptomatic but, in some cases, patients can present with ophthalmoplegia and total blindness if these aneurysms rupture. Aneurysms are usually diagnosed using computed tomography (CT) angiography but can also be seen on magnetic resonance imaging (MRI) and four-vessel digital subtraction angiography. Treatment of OAA entails either surgical or endovascular approaches with the mortality rate …

An Unusual Back Muscle Identified Bilaterally: Case Report., Juan J Altafulla, Mayank Patel, R Shane Tubbs, Joe Iwanaga, Zachary Litvack

Articles, Abstracts, and Reports

Most muscular structures in the human body are named based on their function, origin/insertion, or shape. During routine dissection of the back, an unusual muscle was found deep to the rhomboid muscles. The details of this case and a review of the extant literature are provided.

Inherited Bleeding Disorders-Experience Of A Not-For-Profit Organization In Pakistan, Shabneez Hussain, Shahida Baloch, Azra Parvin, Akbar Najmuddin, Farhana Musheer, Mubashra Junaid, Rab Nawaz Memon, Fareeda Bhanbhro, Hayat Ullah, Bushra Moiz

Department of Pathology and Laboratory Medicine

Patient registry is a powerful tool for planning health care and setting groundwork for research. This survey reports a detailed registry of inherited bleeding disorders (IBD) and their management at a not-for-profit organization in a developing country to form the basis for planning development and research. We reviewed medical records of patients with IBD from 8 hemophilia treatment centers of Fatimid Foundation located in various cities. Information collected included sociodemographic data, diagnostic tests, severity of hemophilia A and B, number of bleeding episodes per year, site and frequency of hemarthrosis, and seropositivity for viral diseases. We analyzed 1497 patients from …

Pelvic Kidney: A Review Of The Literature., Seif Eid, Joe Iwanaga, Marios Loukas, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

Kidney development is a complex process that begins during the sixth to eighth weeks of life. Failure of ascent of the kidney will cause the kidney to remain in the pelvis i.e., pelvic kidney. Here, we review this entity in detail and illustrate such embryological derailment. In most cases, a pelvic kidney is an incidental finding and is usually asymptomatic. Anatomic variations of the renal vasculature have been reported in cases of pelvic kidneys and these are highlighted in this review. Clinicians who treat patients for renal or pelvic disease or interpret images of the pelvis should be well informed …

An Unusual Variation Of The Accessory Nerve., Yusuf Alimi, Joe Iwanaga, Marios Loukas, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

The accessory nerve is an important nerve in the head and neck regions. Some variants of this nerve's anatomy have been reported. Herein, we present an unusual report and review the extant medical literature regarding other more commonly found derailments of this nerve's anatomy.

Evaluation Of Breast Cancer Biomarkers Using Genexpert® On Core Biopsy-A Retrospective Laboratory Based Validation Study., Erick Chesori

Master of Medicine in Anatomic Pathology

Introduction: Breast cancer is the most common malignancy in women worldwide. It is a significant cause of cancer related morbidity and mortality among Kenyan women. Evaluation of Estrogen receptor (ER), Progesterone receptor (PR), and Human epidermal growth factor receptor 2 (HER2) in breast cancer tissue is standard of care as these biomarkers have been shown to have both prognostic and predictive utility. Immunohistochemistry (IHC) is the gold standard for evaluation of ER/PR/HER2, but its availability in Kenya is limited due to the high operational cost. There have been recent developments in alternative cheaper and readily accessible molecular based testing platforms …

Resistome Of Carbapenem- And Colistin-Resistant Klebsiella Pneumoniae Clinical Isolates, Sara Lomonaco, Matthew A. Crawford, Christine Lascols, Ruth E. Timme, Kevin Anderson, David R. Hodge, Debra J. Fisher, Segaran P. Pillai, Stephen A. Morse, Erum Khan

Department of Pathology and Laboratory Medicine

The emergence and dissemination of carbapenemases, bacterial enzymes able to inactivate most β-lactam antibiotics, in Enterobacteriaceae is of increasing concern. The concurrent spread of resistance against colistin, an antibiotic of last resort, further compounds this challenge further. Whole-genome sequencing (WGS) can play a significant role in the rapid and accurate detection/characterization of existing and emergent resistance determinants, an essential aspect of public health surveillance and response activities to combat the spread of antimicrobial resistant bacteria. In the current study, WGS data was used to characterize the genomic content of antimicrobial resistance genes, including those encoding carbapenemases, in 10 multidrug-resistant Klebsiella …

Atrx Mutation In Pineal Parenchymal Tumor Of Intermediate Differentiation, Michelle Nagurney, Md, Christopher Farrell, Md, Zi-Xuan Wang, Phd, Mark T. Curtis, Md

Department of Pathology, Anatomy, and Cell Biology Posters

Objectives

Based on our identification of an ATRX mutation in a PPTID of a 22 year old female, we analyzed the frequency of ATRX loss in pineal parenchymal tumors using ATRX immunohistochemical staining.

Complete Blood Count Reference Intervals From A Healthy Adult Urban Population In Kenya, Geoffrey Omuse, Daniel Maina, Jane Mwangi, Caroline Wambua, Kiran Radia, Alice Kanyua, Elizabeth Kagotho, Mariza Hoffman, Peter Ojwang, Zul Premji, Kiyoshi Ichihara, Rajiv Erasmus

Pathology, East Africa

Background: There are racial, ethnic and geographical differences in complete blood count (CBC) reference intervals (RIs) and therefore it is necessary to establish RIs that are population specific. Several studies have been carried out in Africa to derive CBC RIs but many were not conducted with the rigor recommended for RI studies hence limiting the adoption and generalizability of the results.

Method: By use of a Beckman Coulter ACT 5 DIFF CP analyser, we measured CBC parameters in samples collected from 528 healthy black African volunteers in a largely urban population. The latent abnormal values exclusion (LAVE) method was used …

A Comprehensive Review Of The Fabella Bone., Dominic Dalip, Joe Iwanaga, Rod J Oskouian, R Shane Tubbs

Articles, Abstracts, and Reports

The fabella is a sesamoid bone that is embedded in the lateral head of the gastrocnemius muscle and often articulates directly with the lateral femoral condyle. It is present in 10-30% of the general population with a higher incidence in Asians. The fabella can lead to various pathologies such as fabella pain syndrome and common fibular nerve palsy. Conservative treatment involves physical therapy or injecting local anesthetics or steroids around this bone. However, if symptoms persist, then a fabellectomy can be performed. Physicians should be aware of the fabella bone and the multiple pathologies associated with it in order to …

Unicameral Bone Cysts: Current Concepts, Shahryar Noordin, Salim Allana, Masood Umer, Mujahid Jamil, Kiran Hilal, Nasir Ud Din

Section of Orthopaedic Surgery

Unicameral bone cysts (UBC) or simple/solitary bone cysts are benign fluid filled cavities that enlarge over time, resulting in thinning of the bone. Usually these cysts are reported in the metaphyseal areas of long bones with open physes. 85% of UBCs occur almost exclusively in children and adolescents. UBCs are more aggressive in the first decade of life and correspondingly the recurrence rate for these patients is four times that for adolescents. The proximal humerus and femur account for almost 90% of these cases. UBCs are classified as active when they are within 1 cm of the physis and latent …

Metachronous Renal Ewing Sarcoma/Primitive Neuroectodermal Tumour In A Survivor Of Burkitt Lymphoma, Kumail Khandwala, Kiran Hilal, Zehra Fadoo, Khurram Minhas

Department of Radiology

We present a case of a 14-year-old girl who was diagnosed with Burkitt lymphoma in 2014. She was managed with chemotherapy and remained in remission for 3 years. On her surveillance imaging in 2017, a left-sided renal neoplastic mass was incidentally discovered. She underwent nephrectomy and pathology of the resected specimen revealed small cell tumour of the kidney with features favouring renal Ewing sarcoma/primitive neuroectodermal tumour. Molecular genetic analysis by fluorescence in situ hybridisation was performed which showed translocation of 22q12, thereby confirming the diagnosis. This is a rare secondary malignancy and an unusual association. This case highlights the importance …

Association Of Tissue Vitamin D Receptor Expression With Breast Cancer Molecular Subtypes In Kenyan Women, Mutambuki Kimondo

Master of Medicine in Anatomic Pathology

Background: Previous studies have shown that reduced vitamin D receptor expression in breast cancer tissue is associated with worse disease outcomes. Furthermore, studies show that estrogen negative and triple negative breast cancer is associated with a poor prognosis and a low breast tissue vitamin D receptor (VDR) expression. Other studies also report that low serum vitamin D levels are associated with more aggressive breast cancer. Methods: This was a cross-sectional study with both a retrospective and a prospective arm. The retrospective part was nested within a larger study; previously constructed tissue microarray blocks (TMA) blocks were used for analysis of …

Genetic Sequencing For Surveillance Of Drug Resistance In Tuberculosis In Highly Endemic Countries: A Multi-Country Population-Based Surveillance Study, Matteo Zignol Md, Andrea Maurizio Cabibbe, Anna S. Dean, Philippe Glaziou, Natavan Alikhanova, Cecilia Ama, Sönke Andres, Anna Barbova, Rumina Hasan, Zahra Hasan

Department of Pathology and Laboratory Medicine

Background: In many countries, regular monitoring of the emergence of resistance to anti-tuberculosis drugs is hampered by the limitations of phenotypic testing for drug susceptibility. We therefore evaluated the use of genetic sequencing for surveillance of drugresistance in tuberculosis.
Methods: Population-level surveys were done in hospitals and clinics in seven countries (Azerbaijan, Bangladesh, Belarus, Pakistan, Philippines, South Africa, and Ukraine) to evaluate the use of genetic sequencing to estimate the resistance of Mycobacterium tuberculosisisolates to rifampicin, isoniazid, ofloxacin, moxifloxacin, pyrazinamide, kanamycin, amikacin, and capreomycin. For each drug, we assessed the accuracy of genetic sequencing by a comparison of the adjusted …

Frequency Of Alk Rearrangement By Fish Testing And Its Correlation With Alk-Ihc In Adenocarcinoma Of Primary Lung Origin, Samar Moattar, Namrah Anwar, Tariq Moatter, Shahid Pervez

Department of Pathology and Laboratory Medicine

Anaplastic lymphoma kinase (ALK) gene can be oncogenic either by forming fusion with other genes, amplification of the gene or by having mutations. ALK rearrangement can either be detected by standard “fluorescence in situ hybridization (FISH)” or “immunohistochemistry (IHC)”. Objective of this study was to record the prevalence of ALK rearrangement in adenocarcinoma of Primary Lung origin and compare it with ALK-IHC staining. Data of 64 patients of lung adenocarcinoma from 2015-2017 was analyzed. All of the FFPE biopsies were tested for EGFR (qPCR) followed by ALK rearrangement (by FISH and IHC) on EGFR negative samples. Out of 64 samples, …

Role Of Tnf Α, Il-6 And Cxcl10 In Dengue Disease Severity, Kiran I. Masood, Bushra Jamil, Maryam Rahim, Muniba Islam, Muhammad Farhan, Zahra Hasan

Department of Pathology and Laboratory Medicine

Background and objective: Dengue virus infections (Dengue) have become increasingly common in Pakistan and can result in case fatalities if not managed appropriately. Patients with Dengue virus infection may be asymptomatic or present with Dengue fever (DF), Dengue with warning signs (DWS) or severe Dengue (SD). Severity in Dengue is coincident with an exacerbated production of lymphocyte-induced cytokines and chemokines which are associated with plasma leakage. We investigated the association of circulating levels of cytokines such as Interleukin (IL)-6, tumor necrosis factor (TNF)-alpha and CXCL-10 in Dengue patients with differing severity of disease.
Material and methods: Dengue infection was confirmed …