Pathology Commons^™

Is Your Cyst Really A Ganglion Cyst? A Case Report Of Angioleiomyoma Mimicking A Plantar Fascia Cystic Lesion, Christopher Anjorin Ms Dpmc, Joseph Bender Dpm

School of Podiatric Medicine - Student Research

Ganglion cysts are among the most common benign soft tissue masses encountered in podiatric clinical practice, and their diagnosis is often presumed based on location, clinical observation, and transillumination. However, this case highlights a diagnostic idiosyncrasy: a lesion clinically presumed to be a ganglion cyst within the plantar fascia was ultimately identified as an angioleiomyoma following surgical excision and histopathological evaluation. This finding underscores the importance of maintaining a broad differential diagnosis when assessing cystic lesions, particularly those that transilluminate, as benign vascular tumors may closely mimic more common entities in both clinical presentation and imaging. More importantly, what if …

Corrigendum To “Characterizing The Metabolites Of The Tyrosine-Kinase Inhibitor Pexidartinib In Mouse Feces, Urine, Plasma, And Liver” [J. Pharm. Biomed. Anal. 265 (2025) 117034], Xuan Qin, Si Chen, John M Hakenjos, Jian Wang, Lei Guo, Ashish Dogra, Zhaoyong Hu, Kevin R Mackenzie, Feng Li

Faculty, Staff and Students Publications

No abstract provided.

Endocarditis Caused By Candida (Candidozyma) Auris, Farah Ebrahim, Mzee Ngunga, Abdulaziz Abeid, Hilda Nasibwa, Newnex Mongare, Rodney Adam

Internal Medicine, East Africa

Candida (Candidozyma) auris has emerged as a hospital-acquired pathogen and was first reported in East Asia in 2009. Infective endocarditis due to C. auris has been rarely reported, while other Candida species account for < 2% of infective endocarditis (IE) cases. Herein we report three cases of endocarditis caused by C. auris , including a native aortic valve, a native tricuspid valve, and a prosthetic valve. Each of these cases had been in healthcare settings months to years earlier that were the likely sources of their infec- tions. These cases suggest the possibility for indolent but life-threatening infections from C. auris . ©2026 The Authors. Published by Elsevier Ltd on behalf of International Society for Infectious Diseases.

Sebaceous Gland Heterotopia Of The Esophagus: A Rare Incidental Finding During Upper Endoscopy, Samuel Ramos, Margaret-Anne Huntley, Eric Vargas, Jignesh Parikh, Vania Zayat

HCA Healthcare Journal of Medicine

Esophageal heterotopic sebaceous glands (EHSG) are an extremely rare finding within the esophageal epithelium. These glands are typically benign, presenting as small, yellow-white plaques or lesions observed on endoscopy, often in the middle third of the esophagus. Esophageal heterotopic sebaceous glands are generally asymptomatic, and surveillance is not required. While their origin is unclear, proposed mechanisms include metaplastic transformation and congenital development. Recognition and histologic confirmation are essential to distinguish EHSG from other esophageal lesions and to avoid unnecessary interventions. We report the case of a 55-year-old man in whom multiple diminutive plaques were identified in the mid-esophagus during esophagogastroduodenoscopy …

Comparing The Expression Of Estrogen Receptors, Progesterone Receptors, And Human Epidermal Growth Factor Receptor 2 Between Initial Biopsy And Excision Specimens In Invasive Breast Carcinoma Cases. Is There A Need For Universal Repeat Testing? Experience From A Community Hospital, Astrid M. Sacasa, Gul Emek Wymer, Susana Ferra

HCA Healthcare Journal of Medicine

Background

The current national recommendation is that breast biomarkers estrogen receptors (ER), progesterone receptors (PR), and human epidermal growth factor receptor 2 (HER2) testing should be done on all primary invasive breast carcinomas and on recurrent or metastatic tumors. Repeat testing on a subsequent excision specimen is not indicated unless results appear discordant with the histopathologic findings. The objective of the current study was to evaluate the need for adopting universal reflex re-testing of breast biomarkers in excision specimens in our institution.

Methods

The study population included 70 sequential invasive breast cancer patients where the results of ER, PR, and …

Cells And Networks In Flux: Rethinking Ontogenesis And Pathogenesis, Mark L. Tykocinski

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Organ and tissue functions emerge from the coordinated activity of cell networks. Therapeutics that act on pathogenic cell networks, modulating their cellular interplay, follow naturally. Over several decades, our laboratory has developed a series of approaches for rewiring cell networks, culminating in a class of cell surface-directed signal converter proteins (SCPs) that do so by modulating juxtacrine and autocrine signaling in and among their nodal cells. A first such SCP has now produced encouraging clinical data for cancer immunotherapy. Yet, these early network-directed fusion proteins rest on a deliberately simplified picture: discrete end-cell types plugged into graphically tractable networks. That …

Lessons Learned From The Validation Of A Machine Learning-Based Colorectal Carcinoma Screening Pipeline In Sub-Saharan Africa, Alfred Githuka, Ulysses Balis, Ye Chan Kim, Eileen Weinheimer-Haus, Christopher Williams, Jerome Cheng, Kelou Yao, John Blau, Shahin Sayed, Mansoor Saleh

Haematology and Oncology, East Africa

Background Artificial intelligence for digital pathology may improve cancer detection and workflow efficiency in low- and middle-income countries, but most models are trained and validated in high-income settings, creating uncertainty about generalizability and real-world deployability under differing pre-analytic and infrastructure conditions.

Objective To validate a locally optimized colorectal carcinoma screening pipeline, retrained on data from a local Kenyan cohort, and to assess its feasibility as a sensitivity-forward assistive pre-screening workflow.

Methods Formalin-fixed, paraffin-embedded hematoxylin and eosin-stained slides from 136 biopsy-proven colonic adenocarcinoma cases and 20 normal controls from 2 Kenyan institutions were digitized at 40× using a Grundium Ocus scanner. …

Maternal, Perinatal, Neonatal, And Postpartum Outcomes Following Severe Acute Respiratory Syndrome - Coronavirus-2 Infection In Pregnancy: A World Health Organization Multi-Country Prospective Cohort Study, Edna Kara, Sami Gottlieb, Nathalie Broutet, Anna Thorson, Marie Delnord, Ibukun-Oluwa Abejirinde, Ronaldo Silva, Marleen Temmerman, Rodney Adam, Ingrid Gichere

Pathology, East Africa

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has raised global concerns regarding its impact on pregnant women and their infants, particularly across evolving variants. This study aimed to determine if infection during pregnancy increased the risk of adverse maternal, perinatal, neonatal, or postpartum outcomes during pre-Omicron and Omicron periods.

Methods We conducted a prospective cohort study in 10 primarily low- and middle-income countries, comprising public and private maternity hospitals in rural and urban areas. Maternal age and comorbidity adjusted mixed-effects models with country-specific random intercepts were used to estimate relative risks (RRs) comparing participants with and without infection …

Intermembrane Coupling Between Bcl-Xl And The Ip3 Receptor Supports Local Ca2+ Transfer At Er-Mitochondrial Contacts, Arijita Ghosh, David Weaver, Chi Li, György Hajnóczky

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Bcl-xL, an anti-apoptotic Bcl-2 family protein, engages laterally with Bak/Bax in the outer mitochondrial membrane (OMM) to inhibit apoptosis and interacts with the IP₃ receptor Ca²⁺ channels (IP3Rs) in the endoplasmic reticulum (ER) membrane to control Ca²⁺ release. It is unknown if OMM-localized Bcl-xL can also interact in trans with IP3Rs at ER-mitochondrial contacts to form a tethering complex that supports IP3R-mediated local Ca²⁺ transfer from ER to mitochondria. We establish that IP3R-mitochondria Ca²⁺ signal propagation depends on Bcl-xL. By targeting Bcl-xL specifically to different subcellular compartments, we find that OMM-localized Bcl-xL increases the efficacy …

Hiding In Plain Sight: A Case Of Intestinal Tuberculosis Masquerading As Benign Lower Gi Bleeding, Lavender Otom, Priyanka Panwar, Gerald Odong, Fatma Kassim, Patricia Okiro, Christopher Opio, Saleem Abdulkarim

Internal Medicine, East Africa

Background Intestinal tuberculosis (TB) represents the most common form of abdominal TB, often affecting the ileocaecal region. Lower gastrointestinal bleeding is an uncommon presentation and may create significant diagnostic uncertainty, particularly in immunocompromised patients and in settings where inflammatory bowel disease is also encountered.

Case Presentation A woman in her sixties from Africa presented with recurrent diarrhoea and intermittent haematochezia over a 6-month period. Initial endoscopic evaluation was nondiagnostic. Cross-sectional imaging later demonstrated multifocal bowel involvement affecting both the small and large bowel, including ileocaecal and rectoanal disease, with associated abdominopelvic lymphadenopathy. Histopathology from repeat colonoscopy biopsy showed caseating granulomas …

Spatially Dissecting Drivers Of Inter-And Intra-Tumoral Heterogeneity In Kenyan Breast Cancer, Mustapha Abubakar, Shahin Sayed, Hela Koka, Scott Lawrence, Karun Mutreja, Xing Hua, Petra Lenz, Samuel Anyaso-Samuel, Rosemary Kamau, Beryl Ooro

Pathology, East Africa

Despite growing evidence on the impact of intra-tumoral heterogeneity (ITH) in breast cancer (BC), its biological drivers and clinically relevant mitigation strategies remain poorly characterized, particularly in low-resource settings where spatial profiling is rarely applied. To address this gap, we conducted a comprehensive, multiplatform spatial profiling study of BC in a Kenyan population. Using the NanoString GeoMx™ Digital Spatial Profiler, we quantified 44 protein markers across 707 spatially defined, PanCK-segmented Areas of Illumination (AOIs) from 31 tumors. All tumors exhibited measurable ITH, with one-third showing marked heterogeneity. Sixteen patients exhibited two or more intrinsic subtypes within their tumors, three of …

Adlm Guidance Document On Incorporating Gender Diversity In Pathology And Laboratory Medicine, Tiffany A Thomas, Gabrielle N Winston-Mcpherson, Ina Amarillo, Alisha D Berry, Caroline J Davidge-Pitts, Sridevi Devaraj, Zil Goldstein, Brad S Karon, Brooke M Katzman, Mahmoud A Khalifa, Hung S Luu, James H Nichols, Tracy L Stockley, Michelle R Stoffel, Dina N Greene, Matthew D Krasowski

Faculty, Staff and Students Publications

Background: The first international clinical standards of care for the gender-diverse population were formulated in the late 1970s. In the last 15 years, multiple subspecialty societies within the United States have developed clinical care guidelines for those with gender dysphoria, including gender-affirming hormone therapy (GAHT) and surgical treatments. To date, there are no pathology- and laboratory medicine-specific recommendations in the United States for the gender-diverse population.

Content: This document outlines pathology- and laboratory medicine-specific recommendations for providing optimal care to the gender-diverse population, with a predominant focus on the adult population. The scope of this document focuses on the following …

Precise-Dyad: A Prospective Cohort Study Linking Maternal And Infant Health Trajectories In Sub-Saharan Africa, Marie-Laure Volvert, Robin Owino, Angela Koech, Onesmus Wanje, Isaac Mwaniki, Joseph Mutunga, Emily Mwadime, Geoffrey Omuse, Moses Mukhanya, Marvin Ochieng, Grace Mwashigadi, Agnes Mutua, Marleen Temmerman, Melissa Gladstone, Amina Abubakar, Helen Nabwera

Centre of Excellence in Women and Child Health

Purpose The PREgnancy Care Integrating Translational Science, Everywhere (PRECISE)-DYAD Study is a prospective observational cohort designed to investigate health outcomes among mother-child pairs (dyads) over the first 3 years of life in two contexts from sub-Saharan Africa. The primary objective of the study was to explore the effects of selected placenta-related complications, such as pregnancy hypertension, fetal growth restriction and preterm birth, on (1) Child health and development, and (2) Women’s health and well-being, including outcomes after stillbirth.

Participants The PRECISE-DYAD Study enrolled women (and their children) originally recruited into the PRECISE pregnancy cohort study in The Gambia and Kenya …

Spatially Dissecting Drivers Of Inter- And Intra-Tumoral Heterogeneity In Kenyan Breast Cancer, Mustapha Abubakar, Shahin Sayed, Hela Koka, Scott Lawrence, Karun Mutreja, Xing Hua, Petra Lenz, Samuel Anyaso-Samuel, Rosemary Kamau, Beryl Ooro

Pathology, East Africa

Despite growing evidence on the impact of intra-tumoral heterogeneity (ITH) in breast cancer (BC), its biological drivers and clinically relevant mitigation strategies remain poorly characterized, particularly in low-resource settings where spatial profiling is rarely applied. To address this gap, we conducted a comprehensive, multiplatform spatial profiling study of BC in a Kenyan population. Using the NanoString GeoMx™ Digital Spatial Profiler, we quantified 44 protein markers across 707 spatially defined, PanCK-segmented Areas of Illumination (AOIs) from 31 tumors. All tumors exhibited measurable ITH, with one-third showing marked heterogeneity. Sixteen patients exhibited two or more intrinsic subtypes within their tumors, three of …

Using Mohs Micrographic Surgery To Treat A Large, Pedunculated Trichoblastoma On The Upper Cutaneous Lip, Richard G. Bindernagel Jr., Addie Walker, Richard Miller

HCA Healthcare Journal of Medicine

Trichoblastomas are uncommon adnexal tumors that usually occur on the face. We report a case of a 62-year-old White man with a large, asymptomatic, slow-growing lesion that had been on his right upper cutaneous lip for 15 years. A 2 cm pink, pedunculated nodule with telangiectasia was seen on examination. A shave biopsy was consistent with trichoblastoma: a circumscribed-appearing dermal tumor of basaloid cells arranged in cords and islands within a cellular stroma, focal epidermal connection, and papillary mesenchymal bodies. The patient elected for treatment with Mohs micrographic surgery (MMS) given the length of time that the tumor had been …

Extended-Phase Anticoagulation For Pediatric Venous Thromboembolism After Einstein Jr, Nathan Wilken, Jun Teruya

Faculty, Staff and Students Publications

No abstract provided.

Fgfr3::Tacc3 Fusion And Notch1 Loss-Of-Function In A Case Of Hpv-Associated Sinonasal Squamous Cell Carcinoma: Diagnostic Challenge And Implications For Targeted Therapy, Xu Cao, Hong Yu, Reham Hamdy Abdulazim Soliman, Pei Ying, Songlin Zhang, Li Liang

Faculty, Staff and Students Publications

Sinonasal squamous cell carcinoma (SNSCC) comprises a heterogeneous group of tumors with emerging molecular subtypes. Human papillomavirus (HPV)-associated SNSCC is a distinct entity, although actionable genomic alterations beyond HPV-driven pathways remain underexplored. Distinguishing HPV-associated SNSCC from carcinoma ex inverted papilloma can be particularly challenging in limited biopsy specimens, as these lesions may appear morphologically similar. We report a case of HPV-associated SNSCC with concurrent FGFR3::TACC3 fusion and NOTCH1 p.C1416 stop-gain mutation.

Oncocytic Intraductal Carcinoma Of The Parotid Gland With Strn::Alk Fusion, Reham H Soliman, Chris Shi, Kevin E Fisher, Hong Yu, Fouad El-Dana, Xu Cao, Li Liang, Pei Ying, Songlin Zhang

Faculty, Staff and Students Publications

Intraductal carcinoma (IDC) of the salivary gland is an uncommon epithelial neoplasm characterized by a predominantly intraductal or intracystic proliferation rimmed by a myoepithelial cell layer. Advances in molecular profiling have revealed recurrent gene fusions in IDC, most frequently involving RET, although fusions implicating other kinase genes have also been described. Among these, ALK rearrangements are rare and remain poorly characterized. Herein, we report a case of oncocytic IDC of the parotid gland harboring a STRN::ALK fusion, further expanding the molecular landscape of this tumor. Although this fusion has been previously reported in intercalated duct IDC, to our knowledge, this …

An Inf2-Dependent Actin-Mediated Step In Inositol 1,4,5-Trisphosphate Receptor Cluster Formation And Activity, Maite R. Zavala, Amrapali Ghosh, Suresh K. Joseph, Rajarshi Chakrabarti

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Intracellular calcium signaling plays a vital role in regulating various cellular processes including gene regulation, motility, metabolism, and cell death. Inositol 1,4,5-trisphosphate receptors (IP3Rs) on the endoplasmic reticulum (ER) are a major cation channel that regulates stimulus-induced calcium release from the ER. While several molecular players regulate the activity of IP3R, its regulation by actin filaments was uncharacterized. Here, we show that actin filaments polymerized by the specific actin nucleator INF2 facilitate agonist-induced IP3R activity. Our results demonstrate that INF2-mediated actin filaments regulate the formation and/or stability of IP3R clusters on the ER that have been previously shown to be …

Intrathecal (G4c2)149 Delivery In C9orf72-Deficient Mice Yields Mild Motor Dysfunction And Als/Ftd Pathological Hallmarks, Katelyn Russell, Amelia Shahrabi, Suleyman Akerman, Matthew D. Byrne, Jeffrey Rothstein, Davide Trotti, Brigid Jensen, Aaron Haeusler

Farber Institute for Neuroscience Faculty Papers

A repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet existing mouse models incompletely engage spinal regions implicated in disease. Here, an adeno-associated virus encoding (G4C2)149 repeats was delivered via neonatal intrathecal injection, achieving widespread CNS expression with robust spinal cord targeting. This approach was applied to mice with graded loss of endogenous C9orf72 to interrogate both gain- and loss-of-function mechanisms. Longitudinal motor, behavioral, and pathological analyses revealed that repeat expression primarily drives mild, progressive muscle weakness, whereas coordination deficits were largely genotype dependent. Subtle gait abnormalities and hyperactivity …

Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondria undergo fusion and fission. While DRP1 regulates fission, fusion is controlled by OPA1, MFN1, and MFN2. The balance between these processes and the crosstalk between machineries remains poorly understood. MFN2 mutations cause Charcot-Marie-Tooth disease type 2 A (CMT2A), affecting mitochondrial fusion and morphology. However, their role in fission is unclear. Using skin fibroblasts from CMT2A patients (L248H and M376V MFN2 mutations) and wild-type mouse embryonic fibroblasts expressing these variants, we studied how MFN2 mutations impact mitochondrial dynamics beyond fusion. We analyzed mitochondrial morphology and dynamics by live-cell confocal microscopy and tested fusion/fission protein levels, oxygen consumption rate (OCR), extracellular …

Global Burden Of Drug-Resistant Tuberculosis In Children: A Systematic Analysis For The Global Burden Of Disease Study, Xuhui Liu, Peierdun Mijiti, Lu Xia, Sylvia M Lacourse, Wulan Talafuhan, Alexander W Kay, Yang Yang, Huarui Liu, Dan Ye, Leonardo Martinez, Shuihua Lu, Adong Shen, Anna M Mandalakas, Feng Li, Christoph Lange, Zhen Huang

Faculty, Staff and Students Publications

Background: Paediatric tuberculosis (TB), particularly drug-resistant TB (DR-TB), is associated with significant mortality. However, the global burden of childhood TB remains poorly understood.

Methods: We analysed incident cases, deaths, and age-standardised incidence and mortality rates among children (0-14 years) with multidrug-resistant/rifampicin-resistant tuberculosis (MDR/RR-TB) and extensively drug-resistant tuberculosis (XDR-TB) using the Global Burden of Disease (GBD) 2021 database. Data were stratified by age, sex, region, country, and HIV/AIDS status. Annual and average annual percentage changes were assessed using joinpoint regression analysis. Secondary analyses compared adult and paediatric TB trends in the End TB era and evaluated the potential impact of the …

Routine Transfusion Of Rh(D)-Positive Rbcs To Rh(D)-Negative Patients Designated As Do Not Resuscitate Conserves Rh(D)-Negative Red Blood Cell Inventory, Julie Katz Karp, Jovanna Everetts, Juliana Guarente, Angelica Vivero, Tiffany Bohr, Mary Harach

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Background: A minority of blood donors are Rh(D)-negative, and Rh(D)-negative red blood cell (RBC) products are often overutilized. As such, Rh(D)-negative RBCs may be difficult to maintain in blood bank inventory.

Study design and methods: We changed our blood bank laboratory policy to approve non-alloimmunized Rh(D)-negative patients to receive Rh(D)-positive RBCs for routine transfusion under defined criteria. Those criteria included Rh(D)-negative males (all ages) and females (aged >50 years) who were designated as do not resuscitate (DNR), either with or without intubation, in the electronic medical record.

Results: From August 15, 2024 through August 15, 2025, a total of 204 …

Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian

Faculty, Staff and Students Publications

No abstract provided.

Incidence And Risk Factors For Stillbirth In Kenya, Mozambique And The Gambia: The Precise Cohort Study, Grace Mwashigadi, Joseph Akuze, Angela Koech, Hawanatu Jah, Anna Roca, Geoffrey Omuse, Moses Mukhanya, Marleen Temmerman, Amina Abubakar, Patricia Okiro

Centre of Excellence in Women and Child Health

Background

Methods

Fda Approval Of Tradipitant: A Novel Approach To Motion Sickness Treatment, Haley Brown, Jennifer Cao, Allie Honigford, Leah Heitkamp, Sarah Hiett, Connor Dains, Brenna Hissong, Manoranjan D'Souza

Pharmacy and Wellness Review

Motion sickness is a prevalent neurophysiological condition affecting approximately one-third of the worldwide population, resulting from sensory mismatch and the brain’s internal model of motion. It is characterized by nausea, vomiting, dizziness, and autonomic symptoms during exposure to actual or virtual motion, which may significantly impair daily functioning and quality of life. Current guidelines recommend the prevention and treatment of motion sickness through pharmacologic, herbal, and non-pharmacologic strategies. Scopolamine and first-generation antihistamines are effective pharmacologic options, while ginger has demonstrated some benefit in reducing symptoms as an herbal option. Non-pharmacologic interventions such as habituation training, behavioral techniques, and sensory strategies …

Correction: Misregulated Alternative Splicing In Endometriosis: A Role For Aberrant Mrna Variants In Endometriotic Cell Growth, Venkata Naga Goutham Davuluri, Michelle Dias, Roxanna Llinas, Neha Kamath, Pooja Popli, Shannon M Hawkins, Chandrakant Tayade, Elise T Courtois, Hari Krishna Yalamanchili, Ramakrishna Kommagani

Faculty, Staff and Students Publications

This corrects the article "Misregulated alternative splicing in endometriosis: a role for aberrant mRNA variants in endometriotic cell growth", 149.

Development Of A Second-Generation Rarα Selective Antagonist As An Orally Bioavailable, Effective, Safe, And Reversible Male Contraceptive, Rui Shi, Kristen John, Xuan Qin, Ehfazul Haque, Taimeng Liang, Narsihmulu Cheryala, Feng Li, Henry L Wong, Gunda I Georg

Faculty, Staff and Students Publications

We report the design and SAR studies of benzopyran-, benzofuran-, and benzothiophene-derived inhibitors of the retinoic acid receptor alpha (RARα) for male contraception. SAR studies identified critical features influencing activity, such as the optimal positioning of antagonism moieties and substituents, leading to the discovery of (S)-4-(5-(2,8-dimethyl-5-(p-tolyl)-2H-chromen-3-yl)-1H-pyrrol-2-yl)­benzoic acid (compound 23). Compound 23 is a highly potent RARα inhibitor (IC50 = 0.051 nM) with excellent selectivity (>1650-fold over RARβ and >1960-fold over RARγ) and ADMET properties. Compound 23 is orally bioavailable and reduces sperm counts in mice for a full male contraceptive effect …

Progressive Cardiac Phenotypes And Reduced Reversibility From Long-Term Cugexp Rna Expression In A Dm1 Mouse Model, Rong-Chi Hu, Mohammadreza Tabary, Xander Ht Wehrens, Thomas A Cooper

Faculty, Staff and Students Publications

Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the DMPK gene, resulting in mutant transcripts that form expanded CUG (CUGexp) RNA foci and sequester muscleblind-like (MBNL) RNA-binding proteins. DM1 is multisystemic, with progressive worsening of disease manifestations in affected tissues. Disease progression is attributed to somatic expansion of the CTG repeats with age, resulting in production of CUGexp RNA with enhanced intrinsic toxicity due to increased MBNL sequestration. To determine the degree to which cardiac disease progression can occur independently of repeat expansion, we used a transgenic DM1 mouse model with inducible heart-specific expression of …

Fetal Vascular Malperfusion And Other Placental Lesions In Relation To Maternal Sars-Cov-2 Exposure: A Case–Control Study, Irene Mwandoto, Marleen Temmerman, Ingrid Gichere, Patricia Okiro

Pathology, East Africa

Background:

The morphologic characteristics of placentas associated with coronavirus disease-19 (COVID-19) have been described but with varying findings. Studies conducted at the onset of the pandemic reported frequency of Fetal Vascular Malperfusion (FVM), an umbrella term that describes occlusive vasculopathies that affect fetal circulation and their associated sequelae. Morphologic manifestations include thrombosis, avascular villi and vascular stromal karyorrhexis. Associated outcomes include fetal growth restriction, thromboembolic events such as neonatal stroke and fetal demise. Placental lesions associated with a severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) infection present a unique picture in histology, especially in the attempt to decipher the …