Internal Medicine Commons^™

Development And Assessment Of A Point-Of-Care Application (Genomic Medicine Guidance) For Heritable Thoracic Aortic Disease, Rohan Patil, Fatima Ashraf, Samer Abu Dayeh, Siddharth K Prakash

Faculty, Staff and Student Publications

Background: Genetic testing can determine familial and personal risks for heritable thoracic aortic aneurysms and dissections (TAD). The 2022 American College of Cardiology/American Heart Association guidelines for TAD recommend management decisions based on the specific gene mutation. However, many clinicians lack sufficient comfort or insight to integrate genetic information into clinical practice.

Objective: We therefore developed the Genomic Medicine Guidance (GMG) application, an interactive point-of-care tool to inform clinicians and patients about TAD diagnosis, treatment, and surveillance. GMG is a REDCap-based application that combines publicly available genetic data and clinical recommendations based on the TAD guidelines into one translational education …

Trβ Activation Confers At2-To-At1 Cell Differentiation And Anti-Fibrosis During Lung Repair Via Klf2 And Cebpa, Xin Pan, Lan Wang, Juntang Yang, Yingge Li, Min Xu, Chenxi Liang, Lulu Liu, Zhongzheng Li, Cong Xia, Jiaojiao Pang, Mengyuan Wang, Meng Li, Saiya Guo, Peishuo Yan, Chen Ding, Ivan O Rosas, Guoying Yu

Faculty, Staff and Students Publications

Aberrant repair underlies the pathogenesis of pulmonary fibrosis while effective strategies to convert fibrosis to normal regeneration are scarce. Here, we found that thyroid hormone is decreased in multiple models of lung injury but is essential for lung regeneration. Moreover, thyroid hormone receptor α (TRα) promotes cell proliferation, while TRβ fuels cell maturation in lung regeneration. Using a specific TRβ agonist, sobetirome, we demonstrate that the anti-fibrotic effects of thyroid hormone mainly rely on TRβ in mice. Cellularly, TRβ activation enhances alveolar type-2 (AT2) cell differentiation into AT1 cell and constrains AT2 cell hyperplasia. Molecularly, TRβ activation directly regulates the …

Syntaxin 3b: A Snare Protein Required For Vision, Himani Dey, Mariajose Perez-Hurtado, Ruth Heidelberger

Faculty, Staff and Student Publications

Syntaxin 3 is a member of a large protein family of syntaxin proteins that mediate fusion between vesicles and their target membranes. Mutations in the ubiquitously expressed syntaxin 3A splice form give rise to a serious gastrointestinal disorder in humans called microvillus inclusion disorder, while mutations that additionally involve syntaxin 3B, a splice form that is expressed primarily in retinal photoreceptors and bipolar cells, additionally give rise to an early onset severe retinal dystrophy. In this review, we discuss recent studies elucidating the roles of syntaxin 3B and the regulation of syntaxin 3B functionality in membrane fusion and neurotransmitter release …

A Rare Case Of Metachronous Gastric Lymphoma And Gastric Adenocarcinoma, Rofinna Johnkennedy Md, Mph, Cheng-Hung Tai, Alexa Plato Md, Department Of Medicine,, Caroline Loeser

Posters

Reports of metachronous primary gastric lymphoma and gastric adenocarcinoma exist in the literature, but it remains a rare entity. We present a rare case of metachronous gastric adenocarcinoma in a patient diagnosed initially with primary gastric lymphoma.

Amyloidosis: A Rare Cause Of Pan-Dysmotility, Rofinna Johnkennedy Md, Mph, Cheng-Hung Tai, Alexa Plato Md, Department Of Medicine,

Posters

Amyloidosis is a rare systemic infiltrative disease, with a prevalence estimated to be 6-10 cases per million person-years. It involves the extracellular deposition of beta-sheet fibrillar protein and can manifest in any organ system in the body. Diagnosis of gastrointestinal involvement of amyloidosis can be difficult, given its nonspecific symptoms including abdominal pain, nausea, dysphagia, and diarrhea.

Risk Of Stroke In Patients With Left Ventricular Thrombosis Who Undergo Coronary Angiography: A System-Wide Retrospective Analysis, Ashraf Ahmed, Shaun Abid Md, Abhinav Aggarwal, Samdish Sethi, Ilia Ryzhkov, Nur Rahman Md, Assad Ur Rehman Md, Mohamed A. Badheeb, Isaac Opoku Md, Rasha Kaddoura, Rajvir Singh Md, Sandeep S. Nayak, Gilead Lancaster

Posters

Left ventricular thrombus (LVT) has been associated with an increased risk of cardioembolic stroke. However, it has not been established if coronary angiography (CAG) or percutaneous intervention (PCI) would enhance that risk. This study aims to determine the risk of cardioembolic stroke among patients with LVT who underwent CAG or PCI.

To Screen Or Not To Screen, That Is The Question, Saddam Zaidi Md, Cheng-Hung Tai, Caroline Loeser

Posters

AASLD and EASL recommend biennial HCC screening for Child-Pugh A and B, but not C. We report a 43-year-old female with alcohol related hepatitis and cirrhosis. Her Fibro test score improved from F4 in 2021 to F2 in 2023 with strict alcohol abstinence. AASLD guidelines for HCC screening in such cases remain unclear.

Cardiac Arrest Associated With Thyrotoxicosis: A Systematic Review, Ashraf Ahmed, Mohamed A. Badheeb, Shaun Abid Md, Douglas Webber, Samdish Sethi, Mayowa Adefuye, Deepak R. Vangipuram, Anda Gonciulea Md, Stuart Zarich, Gregory K. Buller

Posters

Thyrotoxicosis is a systemic condition caused by the effects of elevated levels of thyroid hormones. The cardiovascular manifestations of thyrotoxicosis range from sinus tachycardia and atrial fibrillation to heart failure. The incidence of malignant arrhythmias and cardiac arrest associated with thyrotoxicosis is not well known, and much of the current literature regarding this is limited to case reports. This study conducts a systematic review of the literature to identify patient demographics and outcomes where thyrotoxicosis manifests as cardiac arrest.

Pkmyt1 Is A Marker Of Treatment Response And A Therapeutic Target For Cdk4/6 Inhibitor-Resistance In Er+ Breast Cancer, Anran Chen, Beom-Jun Kim, Aparna Mitra, Craig T Vollert, Jonathan T Lei, Diana Fandino, Meenakshi Anurag, Matthew V Holt, Xuxu Gou, Jacob B Pilcher, Matthew P Goetz, Donald W Northfelt, Susan G Hilsenbeck, C Gary Marshall, Marc L Hyer, Robert Papp, Shou-Yun Yin, Carmine De Angelis, Rachel Schiff, Suzanne A W Fuqua, Cynthia X Ma, Charles E Foulds, Matthew J Ellis

Faculty, Staff and Students Publications

Endocrine therapies (ET) with cyclin-dependent kinase 4/6 (CDK4/6) inhibition are the standard treatment for estrogen receptor-α-positive (ER+) breast cancer, however drug resistance is common. In this study, proteogenomic analyses of patient-derived xenografts (PDXs) from patients with 22 ER+ breast cancer demonstrated that protein kinase, membrane-associated tyrosine/threonine one (PKMYT1), a WEE1 homolog, is estradiol (E2) regulated in E2-dependent PDXs and constitutively expressed when growth is E2-independent. In clinical samples, high PKMYT1 mRNA levels associated with resistance to both ET and CDK4/6 inhibition. The PKMYT1 inhibitor lunresertib (RP-6306) with gemcitabine selectively and synergistically reduced the viability of ET and palbociclib-resistant ER+ breast …

Pparγ/Etv2 Axis Regulates Endothelial-To-Mesenchymal Transition In Pulmonary Hypertension, Dong Hun Lee, Minseong Kim, Sarah S Chang, Raham Lee, Andrew J Jang, Juyoung Kim, Jing Ma, Michael J Passineau, Raymond L Benza, Harry Karmouty-Quintana, Wilbur A Lam, Benjamin T Kopp, Roy L Sutliff, C Michael Hart, Changwon Park, Bum-Yong Kang

Faculty, Staff and Student Publications

Endothelial-to-mesenchymal transition (EndoMT) plays an important role in pulmonary hypertension (PH) but the molecular mechanisms regulating EndoMT remain to be defined. We demonstrate that the axis of the transcription factors PPARγ (Peroxisome Proliferator-Activated Receptor gamma) and ETV2 (ETS variant 2) play important roles in the pathogenesis of PH. Decreased levels of the expression of PPARγ and ETV2 along with reduced endothelial and increased EndoMT markers are consistently observed in lungs and pulmonary artery endothelial cells (PAECs) of idiopathic pulmonary arterial hypertension patients, in hypoxia-exposed mouse lungs, human PAECs, and in induced-EndoMT cells. Etv2 +/- mice spontaneously developed PH and right …

The Case For Eliminating Excessive Worry As A Requirement For Generalized Anxiety Disorder: A Cross-National Investigation, Ayelet Meron Ruscio, Madeleine Rassaby, Murray Stein, Dan Stein, Sergio Aguilar-Gaxiola, Ali Al-Hamzawi, Jordi Alonso, Lukoye Atwoli, Guilherme Borges, Evelyn Bromet

Internal Medicine, East Africa

Background: Around the world, people living in objectively difficult circumstances who experience symptoms of generalized anxiety disorder (GAD) do not qualify for a diagnosis because their worry is not ‘excessive’ relative to the context. We carried out the first largescale, cross-national study to explore the implications of removing this excessiveness requirement.

Methods: Data come from the World Health Organization World Mental Health Survey Initiative. A total of 133 614 adults from 12 surveys in Low- or Middle-Income Countries (LMICs) and 16 surveys in High-Income Countries (HICs) were assessed with the Composite International Diagnostic Interview. Non-excessive worriers meeting all other DSM-5 …

Accuracy Of Nine-Item Patient Health Questionnaire Against Psychiatric Diagnosis For Depression Among People With Hiv, Marcela Yotebieng, Natalia Zotova, Charlotte Bernard, Suzanne Goodrich, Ajeh Rogers Awoh, Dana Watnick, Dominique Mahambu Nsonde, Elodie Flore Tchiengang Moungang, Moussa Seydi, Lukoye Atwoli

Internal Medicine, East Africa

Objective: The aim of this study was to assess the performance of the nine-item Patient Health Questionnaire (PHQ-9) against psychiatrist diagnosis in people with HIV (PWH).

Design: Cross-sectional analysis of data collected between January 2018 and July 2022 across five sites in Cameroon, Cote d’Ivoire, Kenya, Senegal, and the Republic of Congo. Participants were ≥18 years and receiving HIV care at the participating site. PHQ-9 was administered by study staff followed by a psychiatrist's evaluation within 3 days.

Results: Overall, 778 participants with complete data were included: 297 (38.2%) in Cameroon, 132 (17.0%) in Congo, 148 (19.0%) in Cote d’Ivoire, …

Psychological Distress Among Ethnically Diverse Participants From Eastern And Southern Africa, Kester Tindi, Allan Kalungi, Eugene Kinyanda, Bizu Gelaye, Alicia Martin, Ronald Galiwango, Wilber Ssembajjwe, Fred Kirumira, Adele Pretorius, Lukoye Atwoli

Internal Medicine, East Africa

Importance: Psychological distress is characterized by anxiety and depressive symptoms. Although prior research has investigated the occurrence and factors associated with psychological distress in low- and middle-income countries, including those in Africa, these studies’ findings are not very generalizable and have focused on different kinds of population groups.

Objective: To investigate the prevalence and characteristics (sociodemographic, psychosocial, and clinical) associated with psychological distress among African participants.

Design, setting and participants: This case-control study analyzed data of participants in the Neuropsychiatric Genetics in African Populations-Psychosis (NeuroGAP-Psychosis) study, which recruited from general outpatient clinics in Eastern (Uganda, Kenya, and Ethiopia) and Southern …

A Virtual Breakthrough Series Collaborative For Missed Test Results: A Stepped-Wedge Cluster-Randomized Clinical Trial, Lisa Zubkoff, Andrew J Zimolzak, Ashley N D Meyer, Jennifer Sloane, Umber Shahid, Traber Giardina, Sahar A Memon, Taylor M Scott, Daniel R Murphy, Hardeep Singh

Faculty, Staff and Students Publications

IMPORTANCE: Missed test results, defined as test results not followed up within an appropriate time frame, are common and lead to delays in diagnosis and treatment.

OBJECTIVE: To evaluate the effect of a quality improvement collaborative, the Virtual Breakthrough Series (VBTS), on the follow-up rate of 2 types of test results prone to being missed: chest imaging suspicious for lung cancer and laboratory findings suggestive of colorectal cancer.

DESIGN, SETTING, AND PARTICIPANTS: This stepped-wedge cluster-randomized clinical trial was conducted between February 2020 and March 2022 at 12 Department of Veterans Affairs (VA) medical centers, with a predefined 3-cohort roll-out. Each …

Malignant Pleural Mesothelioma: A Comprehensive Review., Molly Jain Md, Morgan Crites Np-C, Patricia Rich Md, Bharat Bajantri Md

Internal Medicine Residency

Mesotheliomas are hyperplastic tumors that envelop the serosal membranes that safeguard the body's external surfaces. Although certain instances may exhibit indolent characteristics, a significant number of tumors demonstrate rapid progression and a poor prognosis. Mesotheliomas are typically categorized as benign or malignant, with malignant mesothelioma being more frequently linked to asbestos exposure. Malignant pleural mesothelioma (MPM) predominantly impacts males and often emerges in the late 50 s or beyond, characterized by a median age of early 70 s among patients exposed to asbestos lasting from 2 to 4 decades. Respiratory exposure to asbestos particles leads to the development of malignant …

Korelasi Skor Get With The Guidelines-Heart Failure Dan Rasio Platelet Limfosit Pada Pasien Rawat Inap Dengan Gagal Jantung, Samuel Hendryk Panjaitan, Naomi Niari Dalimunthe, Supriatmo Supriatmo, Andika Pradana

Jurnal Penyakit Dalam Indonesia

Introduction. The Get with the Guidelines-Heart Failure (GWTG-HF) risk score is a widely utilized and validated tool for assessing prognosis in patients with heart failure. Inflammation significantly contributes to the pathophysiology of heart failure, evidenced by platelet activation and a reduction in lymphocyte counts. Consequently, the platelet-to-lymphocyte ratio (PLR) may function as a prognostic biomarker in this population. This study aims to investigate the correlation between the GWTG-HF risk score and PLR as an inflammatory marker in patients hospitalized with heart failure.

Methods. This cross-sectional study utilized medical records of heart failure patients admitted to Adam Malik Hospital …

Sarkopenia Sebagai Faktor Risiko Varises Esofagus Risiko Tinggi Berdasarkan Stratifikasi Child-Pugh Pasien Sirosis Hati, Iwandheny Sepmeitutu, Juferdy Kurniawan, Hasan Maulahela, Ikhwan Rinaldi, Hamzah Shatri, Triyanta Yuli Pramana, Dadang Makmun, Cosmas Rinaldi A Lesmana, Rudy Hidayat, Purwita Wijaya Laksmi, Diana Sunardi

Jurnal Penyakit Dalam Indonesia

Background The high prevalence of sarcopenia in chronic liver disease negatively impacts the quality of life and increases the risk of various complications of cirrhosis, one of which is the development of esophageal varices. The aim of this study was to determine the prevalence of sarcopenia in cirrhosis patients based on the severity of liver cirrhosis and to explore the association of sarcopenia with high-risk esophageal varices stratified by Child-Pugh. Methods This observational cross-sectional study involved patients with liver cirrhosis at Cipto Mangunkusumo Hospital between January and September 2023. Sarcopenia was defined as a reduction in muscle mass accompanied by …

Peran Pemeriksaan Penanda Tumor Cairan Pleura Dalam Diagnosis Efusi Pleura Maligna Akibat Kanker Paru Primer, Cleopas M. Rumende, Noorwati Sutandyo, Arif R. Hanafi, Samuel K. Rumende, Erwin C. Susanto, Truely P. Sitorus

Jurnal Penyakit Dalam Indonesia

Introduction. Pleural effusion is a frequently acquired lung disorder and based on the type of cause it is divided into malignant and non-malignant pleural effusion. Cytological examination of pleural fluid to differentiate between malignant and non-malignant pleural effusion shows varying sensitivity. Research regarding the benefits of CEA and Cyfra 21-1 pleural fluid examination to detect malignant pleural effusion due to primary lung cancer in Indonesia is still very limited. The aims of this study is to determine the sensitivity and specificity of CEA and Cyfra 21-1 pleural fluid in diagnosing malignant pleural effusion due to primary lung camcer.

Methods …

Kesintasan Pasien Karsinoma Hepatoselular: Sebuah Studi Komprehensif Tentang Pengaruh Awitan Dini Versus Lambat Dan Faktor Determinannya, Ibrahim Achmad, Chyntia Olivia Maurine Jasirwan, Wulyo Rajabto, Murdani Abdullah, Saut Horas H. Nababan, Sally Aman Nasution, Sukamto Koesnoe, Nina Kemala Sari

Jurnal Penyakit Dalam Indonesia

Introduction. The prognosis for patients with Hepatocellular Carcinoma (HCC) is generally poor because most cases are diagnosed at an advanced stage. Several studies indicate that HCC is more prevalent and has a worse prognosis among younger individuals. This study aims to identify and compare the variations in survival rates between early and late-onset HCC patients at Cipto Mangunkusumo Hospital and investigate the factors that impact survival outcomes in both groups.

Methods. Retrospective cohort study of HCC patients registered in HCC registry 2015-2022. Survival was visualized using Kaplan-Meier curves. Prognostic factor variables in the Cox Proportional Hazard Regression analysis …

Potassium-Competitive Acid Blocker Sebagai Alternatif Penghambat Pompa Proton Untuk Mengatasi Gejala Gastroesophageal Reflux Disease: Sebuah Laporan Kasus Berbasis Bukti, Adam Prabata, Adelia Nova Prahasary, Arya Govinda

Jurnal Penyakit Dalam Indonesia

Gastric acid suppression is one of the main pillars of gastroesophageal reflux disease (GERD) treatment. Proton pump inhibitor (PPI) is the most used drug for suppressing gastric acid in GERD patients currently. Potassium- acid competitive acid blocker (PCAB) is a new class of drug which can be used as an alternative drug for suppressing gastric acid, so hypothetically, this drug could be an alternative of PPI for relieving GERD symptoms. However, the ability of PCAB for relieving GERD symptoms was not established, so this study was aimed to elucidate the ability of PCAB as an alternative drug of PPI for …