Internal Medicine Commons^™

Predictors, Disparities, And Facility-Level Variation: Sglt2 Inhibitor Prescription Among Us Veterans With Ckd, L Parker Gregg, David J Ramsey, Julia M Akeroyd, Shehrezade A Jafry, Michael E Matheny, Salim S Virani, Sankar D Navaneethan

Faculty, Staff and Students Publications

RATIONALE & OBJECTIVE: Sodium/glucose cotransporter 2 (SGLT2) inhibitors are recommended for type 2 diabetes mellitus (T2DM) in patients with chronic kidney disease (CKD) or atherosclerotic cardiovascular disease (ASCVD). We evaluated factors associated with SGLT2 inhibitor prescription, disparities by race and sex, and facility-level variation in prescription patterns.

STUDY DESIGN: Retrospective cohort.

SETTING & PARTICIPANTS: A national sample of US veterans with comorbid T2DM, CKD, and ASCVD with a primary care visit between January 1 and December 31, 2020.

EXPOSURE: Race, sex, and individual Veterans Affairs (VA) location.

OUTCOME: SGLT2 inhibitor prescription.

ANALYTICAL APPROACH: Multivariable logistic regression assessed associations of race …

Extracellular Vesicle-Packaged Ilk From Mesothelial Cells Promotes Fibroblast Activation In Peritoneal Fibrosis, Qiang Huang, Yuxiang Sun, Long Peng, Juan Sun, Zixin Sha, Hongchun Lin, Yongjie Li, Canming Li, Huiqun Li, Hongli Shang, Yanxu Chen, Xianrui Dou, Zhaoyong Hu, Zengchun Ye, Hui Peng

Faculty, Staff and Students Publications

Progressive peritoneal fibrosis and the loss of peritoneal function often emerged in patients undergoing long-term peritoneal dialysis (PD), resulting in PD therapy failure. Varieties of cell-cell communications among peritoneal cells play a significant role in peritoneal fibrogenesis. Extracellular vesicles (EVs) have been confirmed to involve in intercellular communication by transmitting proteins, nucleic acids or lipids. However, their roles and functional mechanisms in peritoneal fibrosis remain to be determined. Using integrative analysis of EV proteomics and single-cell RNA sequencing, we characterized the EVs isolated from PD patient's effluent and revealed that mesothelial cells are the main source of EVs in PD …

Adenocarcinoma Of The Transverse Colon Presenting As Anterior Abdominal Wall Abscess, Jenn Klein, Nima Avin, Sunil Gandhi

HCA Healthcare Journal of Medicine

Introduction

Locally invasive colon carcinoma comprises a small fraction of the incidence of colon carcinoma. Complications, such as perforation and obstruction, can occur in less than 0.5% of cases and often present differently based on location.

Case Presentation

We present a case of an 85-year-old woman who presented with an acute abdominal wall abscess which was caused by perforation of transverse colon carcinoma.

Conclusion

En-bloc resection increases 5-year survival, and adjuvant chemotherapy reduces the risk of recurrence in patients with stage II resectable colon carcinoma.

Setelah Pandemi Covid-19: Peran Penggunaan Alat Pelindung Diri Bagi Tenaga Medis Di Indonesia, Sukamto Koesnoe, Muhammad Ikrar Hermanadi

Jurnal Penyakit Dalam Indonesia

No abstract provided.

Perubahan Perilaku Penggunaan Alat Pelindung Diri (Apd) Pasca Terinfeksi Covid-19 Pada Dokter Di Indonesia: Sebuah Survei Nasional Pada Awal Pandemi, Herikurniawan Herikurniawan, Evy Yunihastuti, Ari F. Syam, Dewi Sumaryani Sumaryani Soemarko, Andrian Wiraguna

Jurnal Penyakit Dalam Indonesia

Introduction. Doctors have greater risk of acquiring COVID-19 due to occupational exposure. Personal protective equipment (PPE) is an essential factor in reducing COVID-19 transmission. We aimed to evaluate the behavior changes of PPE usage among doctors in Indonesia before and after getting COVID-19 infection in early pandemic.

Methods. This was a descriptive online survey with cross-sectional design. This survey was conducted from October-December 2020 among Indonesian doctors who were COVID-19 survivors.

Results. A total of 389 doctors who survived COVID-19 infection across Indonesia were included in the final analysis. Most participants were general practitioners and residents (69.2%) with a median …

Hubungan Status Vitamin D Dengan Risiko Jatuh Pada Pasien Lansia Dengan Penyakit Ginjal Kronik Yang Menjalani Hemodialisis Reguler, Muhammad Iqbal, Dina Aprillia Ariestine, Sumi Ramadhani

Jurnal Penyakit Dalam Indonesia

Introduction. Fall is one of the main causes of hospitalization in the elderly, which is caused by several factors including gait disturbances, balance disorders, visual disturbances, chronic kidney disease (CKD), vitamin D deficiency, and so on. Chronic kidney disease can cause disruption of vitamin D metabolism, especially in the elderly population. This study aimed to assess the relationship between vitamin D status and the risk of falling in elderly patients with CKD who receive regular hemodialysis programs.

Methods. We conducted a cross-sectional study by assessing the relationship between vitamin D status and the risk of fall in elderly patients undergoing …

Efektivitas Dan Keamanan Beraprost Untuk Pengobatan Klaudikasio Intermiten Pada Critical Limb Threatening Ischemia (Clti), Andhika Pangestu, Nur Asicha, Rahmat Cahyanur, Resultanti Resultanti

Jurnal Penyakit Dalam Indonesia

Critical limb threatening ischemia (CLTI) is the most advanced stage of peripheral arterial diseases. Alternative treatment for claudication in CLTI patients is beraprost. We aim to review effectiveness and safety beraprost for relieve symptoms in CLTI. We conducted systematic literature searching using PubMed/MEDLINE, Embase, ProQuest, and Cochrane databases. Selected articles were examined for duplication and screened by abstract and title. Then, we appraised the articles based on the critical appraisal sheet from Centre for Evidence-Based Medicine (CEBM) University of Oxford. We found one systematic review-meta analysis (SR-MA) which involved 4,477 randomized participants. The results from this study are moderate quality …

Pica Sebagai Manifestasi Anemia Defisiensi Besi: Suatu Laporan Kasus, Artati Murwaningrum, Ikhwan Rinaldi, Inna Intani Mustopa

Jurnal Penyakit Dalam Indonesia

Prevalence of anemia in Indonesia based on Basic Health Research (2018) was 23.7%. Symptoms of iron deficiency anemia were pallor, malaise, palpitation, shortness of breath, headache, sore tongue. But sometimes can be found abnormal behavior in the form of PICA. This article reports on a-52-year-old man who sought medical treatment and was diagnosed with iron deficiency anemia with pica manifestation. The pica manifestation was characterized by a repeated desire to consume raw rice due to bleeding from hemorrhoids. Patient was given oral iron replacement therapy contain 100 mg of Fe (III) hydroxide polymaltose complex and folic acid 0.35 mg alternating …

Peran Penting Inflamasom Nlrp3 Pada Aterosklerosis, Dewi Sukmawati

Jurnal Penyakit Dalam Indonesia

Cardiovascular diseases (CVDs) still contribute as the main cause of mortality and premature mortality worldwide. In Indonesia, CVDs contribute to 35% of the main cause of death in non-communicable diseases followed by diabetes at 6%. The ischemic heart disease and acute ischemic stroke is the main cause of death in Indonesia due to atherosclerosis. Atherosclerosis is a multifactorial cause, with chronic inflammation which causes myocardial infarction and acute ischemic stroke. Research demonstrated that one of the underlying mechanisms of atherosclerosis is inflammation. The current research suggested that inflammation could activate a complex of cytosol proteins, namely nucleotide-binding oligomerization domain-like receptor …

Pengaruh Terapi Metotreksat Pada Pasien Artritis Reumatoid Terhadap Penurunan Fungsi Kognitif: Meta-Analisis Berdasarkan Telaah Sistematik, Fara Fauzia, Nurhayati Adnan Prihartono, Rudy Hidayat, Abirianti P. Araminta

Jurnal Penyakit Dalam Indonesia

Introduction. Rheumatoid arthritis (RA) is a systemic and chronic autoimmune disease involving the joints disorder as the main manifestations. Methotrexate (MTX) is currently still the drug of choice for RA treatment due to the good clinical response. However, there was a case reported by the American Geriatric Society in 2015 regarding the presence of reversible dementia after treatment with low-dose oral methotrexate. This study aimed to identify the effect of MTX treatment on cognitive disorder in RA patients.

Methods. The study protocol was registered with PROSPERO (CRD42023414937). A systematic literature search was conducted in Medline Embase database, Scopus, CENTRAL …

Rasio Neutrofil Limfosit Dan Kadar D-Dimer Berdasarkan Derajat Keparahan Pasien Covid-19 Di Rumah Sakit Semen Padang : Studi Kasus Kontrol, Hanifa Zahra Besri, Efrida Efrida, Yusri Dianne Jurnalis, Andani Eka Putra, Dewi Wahyu Fitrina, Husni Husni

Jurnal Penyakit Dalam Indonesia

Introduction. Coronavirus Disease 2019 (COVID-19) is caused by Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) which in 2020 was declared a global pandemic. In the management of COVID-19, patients are classified according to the severity. Identifying prognostic factors at an early stage helps assess severity risks. Abnormal hematological parameters were present in COVID-19 patients such as the elevation of neutrophil lymphocyte ratio (NLR) and D-dimer patients. This study aimed to determine the NLR and D-dimer levels based on the severity of COVID-19 patients.

Methods. This study was an observational analytical study that used a case-control approach using 100 medical records of …

On The Respiratory Syncytial Virus Vaccine, Forest W. Arnold

The University of Louisville Journal of Respiratory Infections

No abstract provided.

Profil Klinis Dan Kesintasan Pasien Karsinoma Sel Hati Di Rumah Sakit Rujukan Tersier Indonesia Tahun 2015-2021, Irsan Hasan, Rino Alvani Gani, Andri Sanityoso Sulaiman, Juferdy Kurniawan, Cosmas Rinaldi A. Lesmana, Chyntia Olivia M Jasirwan, Saut Horas H. Nababan, Kemal Fariz Kalista, Gita Aprilicia, Maria Teressa

Jurnal Penyakit Dalam Indonesia

Introduction. Hepatocellular carcinoma (HCC) is the most common primary liver cancer in the world and Indonesia. This study aimed to describe the clinical presentation and survival rate of HCC patients in Dr. Cipto Mangunkusumo Hospital (RSCM) as the Indonesian tertiary referral hospital in year 2015-2021

Methods. Cohort study was performed in year 2015-2021. Clinical presentations at the time of diagnosis were recorded from electronical health record. All HCC patients were followed up until death. One-year survival based on staging was assessed using log rank test and presented with Kaplan Meier curve.

Results. A total of 799 HCC patients were included. …

The Utility Of Fecal Calprotectin In The Diagnosis And Management Of Microscopic Colitis, Busara Songtanin, Abbie Evans, Kenneth Nugent, Vanessa Costilla

Journal of Community Hospital Internal Medicine Perspectives

Background: The incidence of microscopic colitis has increased over time. To date, there is no specific biomarker for microscopic colitis, and the diagnosis relies on histopathological tissue obtained during colonoscopy which is an invasive and costly procedure. Unlike Crohn’s disease and ulcerative colitis, the utility of fecal calprotectin in diagnosing or monitoring microscopic colitis has not been established, and studies on the role of fecal calprotectin in microscopic colitis are limited. In this retrospective study, we analyzed the utility of this biomarker in the diagnosis of microscopic colitis. Methods: The medical records of patients who have been diagnosed with collagenous …

Reversible Cerebral Vasoconstriction Syndrome Associated With Oxybutynin Use; A Brief Review Of Pathophysiology, Wahab J Khan, Muhammad Asif, Sadia Aslam, Ifrah Nadeem, William Rossing

Journal of Community Hospital Internal Medicine Perspectives

Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by reversible vasospasm of the central nervous system vasculature. It usually presents as a classic thunderclap headache, but complications like a stroke, seizure, or intracranial hemorrhage may occur at the onset. Most cases are linked temporally to secondary agents. The most common suggested mechanism underlying the RCVS is vascular tone dysregulation. Our report describes the RCVS incidence associated with oxybutynin use in a young female. We aim to describe the potential pathophysiology linking oxybutynin use and RCVS.

Vital Signs For Pediatric Health: High School Graduation, Kimberly Hoagwood, Deborah Klein Walker, Anne Edwards, Jennifer W Kaminski, Kelly J Kelleher, Julia Spandorfer, Erin G Fox

Faculty, Staff and Student Publications

No abstract provided.

Prolylcarboxypeptidase Alleviates Hypertensive Cardiac Remodeling By Regulating Myocardial Tissue Angiotensin Ii, Binh Y Nguyen, Fangchao Zhou, Pablo Binder, Wei Liu, Susanne S Hille, Xiaojing Luo, Min Zi, Hongyuan Zhang, Antony Adamson, Fozia Z Ahmed, Sam Butterworth, Elizabeth J Cartwright, Oliver J Müller, Kaomei Guan, Elizabeth M Fitzgerald, Xin Wang

Faculty, Staff and Student Publications

Background Prolonged activation of angiotensin II is the main mediator that contributes to the development of heart diseases, so converting angiotensin II into angiotensin 1-7 has emerged as a new strategy to attenuate detrimental effects of angiotensin II. Prolylcarboxypeptidase is a lysosomal pro-X carboxypeptidase that is able to cleave angiotensin II at a preferential acidic pH optimum. However, insufficient attention has been given to the cardioprotective functions of prolylcarboxylpeptidase. Methods and Results We established a CRISPR/CRISPR-associated protein 9-mediated global prolylcarboxylpeptidase-knockout and adeno-associated virus serotype 9-mediated cardiac prolylcarboxylpeptidase overexpression mouse models, which were challenged with the angiotensin II infusion (2 mg/kg …

Gata6-As1 Regulates Intestinal Epithelial Mitochondrial Functions, And Its Reduced Expression Is Linked To Intestinal Inflammation And Less Favourable Disease Course In Ulcerative Colitis, Katya E Sosnovski, Tzipi Braun, Amnon Amir, Danielle Moshel, Marina Benshoshan, Kelli L Vandussen, Nina Levhar, Haya Abbas-Egbariya, Katia Beider, Rakefet Ben-Yishay, Syed Asad Ali, Sean R Moore, Subra Kugathasan, Ifat Abramovich, Efrat Glick Saar, Batya Weiss, Iris Barshack, Eyal Gottlieb, Tamar Geiger, Shomron Ben-Horin, Igor Ulitsky, Jeffrey S Hyams, Lee A Denson, Yael Haberman

Faculty, Staff and Student Publications

BACKGROUND AND AIMS: Widespread dysregulation of long non-coding RNAs [lncRNAs] including a reduction in GATA6-AS1 was noted in inflammatory bowel disease [IBD]. We previously reported a prominent inhibition of epithelial mitochondrial functions in ulcerative colitis [UC]. However, the connection between reduction of GATA6-AS1 expression and attenuated epithelial mitochondrial functions was not defined.

METHODS: Mucosal transcriptomics was used to conform GATA6-AS1 reduction in several treatment-naïve independent human cohorts [n=673]. RNA pull-down followed by mass spectrometry was used to determine the GATA6-AS1 interactome. Metabolomics and mitochondrial respiration following GATA6-AS1 silencing in Caco-2 cells were used to elaborate on GATA6-AS1 functions.

RESULTS: GATA6-AS1 …

Transmembrane Stem Factor Nanodiscs Enhanced Revascularization In A Hind Limb Ischemia Model In Diabetic, Hyperlipidemic Rabbits, Eri Takematsu, Miles Massidda, Gretchen Howe, Julia Goldman, Patricia Felli, Lei Mei, Gregory Callahan, Andrew Sligar, Richard Smalling, Aaron Baker

Faculty, Staff and Student Publications

Therapies to revascularize ischemic tissue have long been a goal for the treatment of vascular disease and other disorders. Therapies using stem cell factor (SCF), also known as a c-Kit ligand, had great promise for treating ischemia for myocardial infarct and stroke, however clinical development for SCF was stopped due to toxic side effects including mast cell activation in patients. We recently developed a novel therapy using a transmembrane form of SCF (tmSCF) delivered in lipid nanodiscs. In previous studies, we demonstrated tmSCF nanodiscs were able to induce revascularization of ischemia limbs in mice and did not activate mast cells. …

Troponin In Acute Chest Pain To Risk Stratify And Guide Effective Use Of Computed Tomography Coronary Angiography (Target-Ctca): A Randomised Controlled Trial, Kuan Ken Lee, David Lowe, Rachel O'Brien, Ryan Wereski, Anda Bularga, Caelan Taggart, Matthew T H Lowry, Amy V Ferry, Michelle C Williams, Giles Roditi, John Byrne, Chris Tuck, Denise Cranley, Praveen Thokala, Steve Goodacre, Catriona Keerie, John Norrie, David E Newby, Alasdair J Gray, Nicholas L Mills

Faculty, Staff and Student Publications

BACKGROUND: The majority of patients with suspected acute coronary syndrome presenting to the emergency department will be discharged once myocardial infarction has been ruled out, although a proportion will have unrecognised coronary artery disease. In this setting, high-sensitivity cardiac troponin identifies those at increased risk of future cardiac events. In patients with intermediate cardiac troponin concentrations in whom myocardial infarction has been ruled out, this trial aims to investigate whether outpatient computed tomography coronary angiography (CTCA) reduces subsequent myocardial infarction or cardiac death.

METHODS: TARGET-CTCA is a multicentre prospective randomised open label with blinded endpoint parallel group event driven trial. …

Reducing The Environmental Impact Of Surgery On A Global Scale: Systematic Review And Co-Prioritization With Healthcare Workers In 132 Countries, National Institute For Health And Care Research Global Health Research Unit On Global Surgery

Faculty, Staff and Student Publications

BACKGROUND: Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.

METHODS: This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their …

Patiromer Utility As An Adjunct Treatment In Patients Needing Urgent Hyperkalaemia Management (Platinum): Design Of A Multicentre, Randomised, Double-Blind, Placebo-Controlled, Parallel-Group Study, Zubaid Rafique, Jeffrey Budden, Carol Moreno Quinn, Youyou Duanmu, Basmah Safdar, Jason J Bischof, Brian E Driver, Charles A Herzog, Matthew R Weir, Adam J Singer, Stephen Boone, Karina M Soto-Ruiz, W Frank Peacock

Faculty, Staff and Students Publications

INTRODUCTION: Hyperkalaemia is common, life-threatening and often requires emergency department (ED) management; however, no standardised ED treatment protocol exists. Common treatments transiently reducing serum potassium (K

METHODS AND ANALYSIS: PLATINUM is a Phase 4, multicentre, randomised, double-blind, placebo-controlled study in participants who present to the ED at approximately 30 US sites. Approximately 300 adult participants with hyperkalaemia (K

ETHICS AND DISSEMINATION: A central Institutional Review Board (IRB) and Ethics Committee provided protocol approval (#20201569), with subsequent approval by local IRBs at each site, and participants will provide written consent. Primary results will be published in peer-reviewed manuscripts promptly following study …

Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) – A Case Report, Rudrani Mukherjee, Bhanukumar M

Digital Journal of Clinical Medicine

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg Strauss syndrome, is a rare small vessel vasculitis characterized by asthma, eosinophilia, and systemic involvement. This case report presents a 51-year-old man with a history of asthma, who presented with neurological symptoms including blurring of vision, bilateral ptosis, and altered sensorium. The patient had a previous history of cervical and lumbar spine surgeries for symptoms attributed to spondylosis. Further examination revealed hyperpigmented lesions on the limbs, wasting of small muscles, and foot drop.

Investigations showed eosinophilia and thrombocytosis on blood analysis, with bone marrow aspiration revealing eosinophilic and megakaryocytic hyperplasia. The …

Tenofovir Induced Hypokalaemia - A Case Report, Ankisha Gupta, Kiran P. K, Rajendra Prasad S

Digital Journal of Clinical Medicine

Tenofovir, an important medication for HIV/AIDS, carries the risk of hypokalemia in patients receiving treatment. Factors such as dietary deficits, vomiting, or diarrhea further increase this risk. Tenofovir acts as a mitochondrial toxin by inhibiting the DNA polymerase gamma enzyme, crucial for mitochondrial DNA replication. Consequently, ATP generation is depleted through the aerobic pathway, leading to dysfunction in the proximal tubule. This dysfunction manifests as renal acidosis type 2, which involves reduced bicarbonate excretion by the proximal tubule, resulting in renal bicarbonate wasting and decreased serum bicarbonate levels. Consequently, the lumen of the distal nephron becomes negatively charged, leading to …

Early Postpartum Hba1c After Hyperglycemia First Detected In Pregnancy-Imperfect But Not Without Value, Ankia Coetzee, David R Hall, Mari Van De Vyver, Magda Conradie

Faculty, Staff and Student Publications

BACKGROUND: South African women of childbearing age are disproportionally affected by obesity and at significant risk of Type 2 Diabetes Mellitus (T2DM). Unless pregnant, they do not readily undergo screening for T2DM. With a local focus on improved antenatal care, hyperglycemia is often first detected in pregnancy (HFDP). This may erroneously be attributed to Gestational Diabetes Mellitus (GDM) in all without considering T2DM. Glucose evaluation following pregnancy is essential for early detection and management of women with T2DM in whom persistent hyperglycemia is to be expected. Conventional testing with an oral glucose tolerance test (OGTT) is cumbersome, prompting investigation for …

Acute Suppurative Thyroiditis Secondary To Gemella With Extensive Complications, Amber Champion

Department of Internal Medicine Faculty Research

A young woman developed thyroid storm secondary to acute suppurative thyroiditis, with Gemella morbillorum bacteremia. Her case was complicated by neck abscess, Lemierre syndrome (septic thrombophlebitis of the internal jugular vein), mediastinitis, and pleural effusion. She was treated for thyroid storm including steroids and antibiotics. The infectious complications required several surgical procedures and interventions and a prolonged hospital stay, but she ultimately made a full recovery. Complications from suppurative thyroiditis can be rapid and widespread; swift recognition and treatment by a multidisciplinary team can help to prevent complications.

Steroid Responsive Idiopathic Calcitriol Induced Hypercalcemia: A Case Report And Review Of The Literature, Omar El Fadel, Anshel Kenkare, Jingjing Zhang

Division of Internal Medicine Faculty Papers & Presentations

BACKGROUND: Idiopathic Calcitriol Induced Hypercalcemia is a rare cause of a common condition of hypercalcemia. Hypercalcemia is most commonly the result of hyperparathyroidism and together with hypercalcemia of malignancy accounts for over 95% of cases. Idiopathic Calcitriol Induced Hypercalcemia can mimic hypercalcemia secondary to granulomatous diseases like sarcoidosis, but with apparent absences of both imaging and physical exam findings consistent with the disease. We report here a 51-year-old man who presented with recurrent nephrolithiasis, hypercalcemia, and acute kidney injury.

CASE PRESENTATION: A 51-year-old man presented with severe back pain and mild hematuria. He had a history of recurrent nephrolithiasis over …

Rare Case Of Late-Onset Myasthenia Gravis In A 65-Year-Old Female With Prolonged Doxycycline Use, Angel Wong, Kayvan Mirhadi

Advances in Clinical Medical Research and Healthcare Delivery

Myasthenia gravis (MG) is a rare autoimmune condition caused by antibody-mediated disruption of acetylcholine receptors (AChR) or their associated proteins. The age of onset of MG has a bimodal distribution, with a predominance of female cases in the second and third decades and a predominance of male cases in the sixth to eighth decades. MG is often unmasked by stressors such as systemic illness, medication, surgery, and pregnancy. We present a case of late-onset MG in a 65-year-old female with a recent history of prolonged doxycycline use. However, there are aspects of her past medical history, including comorbidities involving the …

5s Rrna Pseudogene Transcripts Are Associated With Interferon Production And Inflammatory Responses In Alcohol-Associated Hepatitis, Jianguo Wu, Adam Kim, Xiaoqin Wu, Semanti Ray, Daniela S Allende, Nicole Welch, Annette Bellar, Jaividhya Dasarathy, Srinivasan Dasarathy, Laura E Nagy

Faculty, Staff and Student Publications

BACKGROUND AND AIMS: Interferon (IFN) signaling is critical to the pathogenesis of alcohol-associated hepatitis (AH), yet the mechanisms for activation of this system are elusive. We hypothesize that host-derived 5S rRNA pseudogene (RNA5SP) transcripts regulate IFN production and modify immunity in AH.

APPROACH AND RESULTS: Mining of transcriptomic datasets revealed that in patients with severe alcohol-associated hepatitis (sAH), hepatic expression of genes regulated by IFNs was perturbed and gene sets involved in IFN production were enriched. RNA5SP transcripts were also increased and correlated with expression of type I IFNs. Interestingly, inflammatory mediators upregulated in sAH, but not in other liver …

Comparative Analyses Define Differences Between Bhd-Associated Renal Tumour And Sporadic Chromophobe Renal Cell Carcinoma, Ryosuke Jikuya, Todd A Johnson, Kazuhiro Maejima, Jisong An, Young-Seok Ju, Hwajin Lee, Kyungsik Ha, Woojeung Song, Youngwook Kim, Yuki Okawa, Shota Sasagawa, Yuki Kanazashi, Masashi Fujita, Seiya Imoto, Taku Mitome, Shinji Ohtake, Go Noguchi, Sachi Kawaura, Yasuhiro Iribe, Kota Aomori, Tomoyuki Tatenuma, Mitsuru Komeya, Hiroki Ito, Yusuke Ito, Kentaro Muraoka, Mitsuko Furuya, Ikuma Kato, Satoshi Fujii, Haruka Hamanoue, Tomohiko Tamura, Masaya Baba, Toshio Suda, Tatsuhiko Kodama, Kazuhide Makiyama, Masahiro Yao, Brian M Shuch, Christopher J Ricketts, Laura S Schmidt, W Marston Linehan, Hidewaki Nakagawa, Hisashi Hasumi

Faculty, Staff and Student Publications

BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.

METHODS: To elucidate renal tumourigenesis of BHD-associated renal tumours and sporadic renal tumours, we conducted whole genome sequencing (WGS) and RNA-sequencing (RNA-seq) of sixteen BHD-associated renal tumours from nine unrelated BHD patients, twenty-one sporadic ChRCCs and seven sporadic oncocytomas. We then compared somatic mutation profiles with FLCN variants and RNA expression profiles between BHD-associated …