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Monitoring Concordance In The Management Of Transfusing Blood Components In Cirrhotic Patients For Paracentesis With Evidence-Based Guidelines, Joseph Kim, Gregory Moses Apr 2023

Monitoring Concordance In The Management Of Transfusing Blood Components In Cirrhotic Patients For Paracentesis With Evidence-Based Guidelines, Joseph Kim, Gregory Moses

North Texas GME Research Forum 2023

Initiative to decrease unnecessary hemostatic agent transfusion in cirrhotic patients undergoing paracentesis: a resident-led approach quality improvement project to prevent transfusion overuse. Currently, there is no official guideline placed in the hospital for the administration of a hemostatic agent such as fresh frozen plasma in the setting of an elevated international normalized ratio, which paradoxically is an anticipated finding in cirrhotic patients. This process leads to unnecessarily prolonging the duration of the hospital course due to delays in performing the interventional procedures and interruptions in scheduling. The goal of this project is to educate and provide physicians with the most …


An Interesting Case Of Suppurative Thrombophlebitis And Perivascular Abscesses As A Cause Of Complicated Mrsa Bacteremia, Ramya Ramachandran, Punjan Patel, Nasima Mehraban, Win Leth Shwe Yee Apr 2023

An Interesting Case Of Suppurative Thrombophlebitis And Perivascular Abscesses As A Cause Of Complicated Mrsa Bacteremia, Ramya Ramachandran, Punjan Patel, Nasima Mehraban, Win Leth Shwe Yee

North Texas GME Research Forum 2023

Methicillin resistant staph aureus (MRSA) Bacteremia has become a serious re-emerging infection. As per the Centers of Disease Control (CDC), the worsening opioid epidemic has created a snowballing effect, in that there is not only an increase in invasive MRSA infections but also in complications from MRSA. Early source control through the form of early foci identification, obtaining serial blood cultures, decolonization and hygiene measures, appropriate antibiotic stewardship are used to eradicate this bacteria and prevent its spread. There are multiple challenges in treating injection drug users with MRSA bacteremia is not only in medical management but also in trying …


Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard Apr 2023

Rare Presentation Of Primary Malignant Peripheral Nerve Sheath Tumor Of The Femur In Neurofibromatosis-1, Akshaj Pole, Danielle Ford, Elizabeth Pollard

North Texas GME Research Forum 2023

Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas, most commonly seen in patients with Neurofibromatosis type 1 (NF1), that are characterized as aggressive with high rate of local recurrence. Among NF1 patients, the risk of developing MNPSTs is approximately 8-13% over a lifetime. Primary MPNST is exceedingly rare, of which the vast majority are concentrated in the head and neck region. Here, we present a case of a 40-year-old male with NF1 who presented with a giant MPNST that originated in the right proximal femur. The mass was treated with complete surgical resection with right hip disarticulation. In a …


The Domino Effect: Spontaneous Abortions As A Sequela Of Eisenmenger Syndrome, Riddhiben Patel, Anas Hamadeh, Laura Montoya, Senthil Thambidorai Apr 2023

The Domino Effect: Spontaneous Abortions As A Sequela Of Eisenmenger Syndrome, Riddhiben Patel, Anas Hamadeh, Laura Montoya, Senthil Thambidorai

North Texas GME Research Forum 2023

Background: Eisenmenger's syndrome (ES) is a congenital cardiac abnormality in which a significant chronic left-to-right shunt results in pulmonary arterial hypertension and a reversal of the shunting direction. A woman with ES should ideally avoid conception given the increased risk of unexpected fetal demise and maternal mortality. Case: We present a case of a 35-year-old female patient G3, P0, at 9 weeks gestation with reported PMHx of erythrocytosis and spontaneous abortions who presented to the hospital with complaints of vaginal bleeding and worsening SOB. She was noted to have a Hct of 70 and a Hb of 23.8, with SaO2 …


A Rare Case Of Persistent Left Superior Vena Cava Discovered During An Intracardiac Echocardiography Procedure, Riddhi H. Patel, Bilal Ayub Apr 2023

A Rare Case Of Persistent Left Superior Vena Cava Discovered During An Intracardiac Echocardiography Procedure, Riddhi H. Patel, Bilal Ayub

North Texas GME Research Forum 2023

Background: Isolated persistent left superior vena cava (PLSVC), also known as persistent left superior vena cava (SVC) with absent right SVC, affects 0.09-0.13% of the population. Right SVC is present in the majority of people with left SVC. Rarely, the right SVC may be missing. Here, we discuss a rare case of PLSVC found incidentally in a patient with paroxysmal atrial fibrillation (PAF).

Case: A 63-year-old female patient with a history of Paroxysmal Atrial flutter (AFL) and atrial fibrillation (AF) on apixaban, HTN, and HLD was brought to the electrophysiology lab for electrophysiology study (EPS) and AF/AFL ablation due to …


A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle Apr 2023

A Rare Case Of Von Gierke Causing Severe Aortic Stenosis, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle

North Texas GME Research Forum 2023

Von Gierke disease is an inherited Glycogen Storage disease - type 1 resulting from deficiencies in the specific enzymes glucose 6 phosphatase(1a), and/or glucose 6 phosphate translocase(1b) glycogen metabolism pathway. Von Gierke disease is commonly seen in the pediatric population and is known for his hepatic and renal manifestations. Here we discuss a rare case of Von Gierke’s disease causing some rare cardiac manifestations. 41yo M with PMHx significant for Von Gierke type 1a, HFrEF complicated by VT s/p ICD, HTN who presented for complaints of continued SOB with new muscle soreness. On arrival, lactic acid was elevated at 5.2, …


Protective Effect Of Betulinic Acid Administration On Kidney Damage In Acetaminophen-Induced Nephrotoxicity Model, Eda Dokumacioglu, Hatice İskender, Armagan Hayirli, Guler Yenice, Kubra Asena Terim Kapakin, Ismail Bolat, Esra Manavoglu Kirman Apr 2023

Protective Effect Of Betulinic Acid Administration On Kidney Damage In Acetaminophen-Induced Nephrotoxicity Model, Eda Dokumacioglu, Hatice İskender, Armagan Hayirli, Guler Yenice, Kubra Asena Terim Kapakin, Ismail Bolat, Esra Manavoglu Kirman

Makara Journal of Health Research

Background: Acetaminophen (APAP) is the most widely used analgesic drug worldwide, but it may induce renal toxicity. Betulinic acid (BA) ameliorates the oxidative stress and inflammatory response to renal damage. The present study aimed to investigate the potential protective effects of BA treatment through an experimental kidney damage rat model administered with APAP.

Methods: Sprague–Dawley male rats were randomly divided into four groups: control, BA (25 mg/kg for 15 days), APAP (1 g/kg), and APAP + BA groups. BA was administered via oral gavage at a dose of 25 mg/kg for 15 days. APAP was dissolved in hot …


Understanding The Experiences Lived By Nurses Caring For Patients With Covid-19: A Hermeneutic Approach, Awatif Mansoor Alrasheeday, Ma. Venus Borja, Eddieson Pasay-An, Farhan Alshammari Apr 2023

Understanding The Experiences Lived By Nurses Caring For Patients With Covid-19: A Hermeneutic Approach, Awatif Mansoor Alrasheeday, Ma. Venus Borja, Eddieson Pasay-An, Farhan Alshammari

Makara Journal of Health Research

Background: Nursing is highlighted among professions that value caring and is perceived as the profession’s heart and soul because of its critical role in providing and delivering high-quality patient care, especially during this coronavirus disease 2019 (COVID-19) pandemic. However, little is understood about the experiences of the frontline workers in caring for persons diagnosed with COVID-19. This study aimed to explore the experiences of nurses in caring for persons diagnosed with COVID-19 inspired by the four lived worlds of van Manen.

Methods: The hermeneutic phenomenology was used in nine nurses working in hospitals of Hail region. This study …


Electrolyte Abnormalities And Seizure Like Activity Unmasking An Underlying Rare Genetic Disorder, Riddhiben Patel, Andrew Cushing, Amnah Andrabi, Sathish Karmegam Apr 2023

Electrolyte Abnormalities And Seizure Like Activity Unmasking An Underlying Rare Genetic Disorder, Riddhiben Patel, Andrew Cushing, Amnah Andrabi, Sathish Karmegam

North Texas GME Research Forum 2023

Fahr's syndrome, or idiopathic basal ganglia calcification, is a rare neurological disorder that runs in families as an autosomal dominant trait. It is associated with a variety of other diseases, especially Parkinson’s disease, but the etiology remains a mystery. On imaging, it presents as abnormal calcium deposits found primarily in the basal ganglia and cerebral cortex, both of which are areas responsible for controlling movement. A 73-year old woman with a past medical history of hypertension and seizures presented to the emergency department due to altered mental status. The patient was indulged in a conversation with her daughter when all …


An Interesting Twist: An Adult Midgut Volvulus Presenting As A Transverse Colon Volvulus, Both Rare Phenomena, Allison Walworth, Danielle Ford Apr 2023

An Interesting Twist: An Adult Midgut Volvulus Presenting As A Transverse Colon Volvulus, Both Rare Phenomena, Allison Walworth, Danielle Ford

North Texas GME Research Forum 2023

Introduction and Case Presentation: We report an unusual case of an adult midgut volvulus presenting first as a transverse colon volvulus. A 62-year-old man with no significant past medical history presented to the emergency department with complaints of intractable nausea, vomiting, and abdominal pain for twenty-four hours. He had been evaluated at an outside hospital where an abdominal and pelvis computed tomography was read as a transverse colon volvulus, a vanishingly rare medical condition. A CT reimaging of the abdomen and pelvis illustrated a whirlpool sign in the region of the small bowel, consistent with a small bowel volvulus. In …


An Interesting Occurrence Of Bell’S Palsy With Atypical Presentation After Contracting Covid-19 Infection, Yen-Chung Wang, Yen-Hsiang Wang, Christian Sanchez Apr 2023

An Interesting Occurrence Of Bell’S Palsy With Atypical Presentation After Contracting Covid-19 Infection, Yen-Chung Wang, Yen-Hsiang Wang, Christian Sanchez

North Texas GME Research Forum 2023

Introduction: COVID-19 has been identified as primarily a respiratory illness, however, with its clinical manifestation of involvement with multiple organs, it is now considered a systemic illness. In particular, it also can elicit a broad spectrum of neurological symptoms. One of the proposed manifestations is Bell’s Palsy, an acute idiopathic facial nerve palsy that affects the lower motor neuron. Here we have a patient with recent COVID infection who presents with a unilateral facial droop along with unilateral weakness/tingling of extremities and was diagnosed with Bell’s Palsy.

Case Description: Patient is a 47-year-old male with a past medical history of …


Low-Grade Adenosquamous Carcinoma Of The Breast In A Pregnant Patient: Case Report And Literature Review, David Bassa, Makenzie Morrissey, Adewuni Ojo, Adeel Raza Apr 2023

Low-Grade Adenosquamous Carcinoma Of The Breast In A Pregnant Patient: Case Report And Literature Review, David Bassa, Makenzie Morrissey, Adewuni Ojo, Adeel Raza

North Texas GME Research Forum 2023

Low-grade Adenosquamous Carcinoma of the Breast: Case Report and Literature Review Authors: David Bassa DO, MaKenzie Morrissey MD, Adewuni Ojo MD, Adeel Raza MD Abstract: Introduction: Low-grade adenosquamous carcinoma (LGASC) is a rare variant of metaplastic carcinomas of the breast. It is characterized by its clinical indolence and low-grade cytomorphology. Presentation is typically asymptomatic with indeterminate imaging characteristics with diagnosis dependent solely on histopathology findings. We herein describe a case of LGASC presenting in a young premenopausal female, an extremely rare occurrence. Case presentation: A 23-year-old woman presented to the breast clinic with a left breast ultrasound demonstrating a heterogeneous …


Lesion Size Inclusion On Dermatopathology Requisition Forms: A Quality Improvement Project, Christopher M. Wong, Henry Lim, Christian Scheufele, Daniel A. Nguyen, Ashleigh E. Hermann, Michael Carletti, Stephen Weis Apr 2023

Lesion Size Inclusion On Dermatopathology Requisition Forms: A Quality Improvement Project, Christopher M. Wong, Henry Lim, Christian Scheufele, Daniel A. Nguyen, Ashleigh E. Hermann, Michael Carletti, Stephen Weis

North Texas GME Research Forum 2023

Introduction: Dermatopathology requisition forms (RFs) are a critical communication tool between dermatologists and dermatopathologists. Including detailed information on RFs improves the diagnostic accuracy of the consulting dermatopathologist. However, the diameter of the biopsied lesion is often omitted on RFs. This study aimed to increase the rate of reporting lesion diameters on RFs from an academic outpatient dermatology clinic to greater than 65% through education, reinforcement, and evaluation. Methods: This quality improvement project retrospectively and prospectively analyzed the inclusion rate of lesion diameters on dermatopathology RFs from a single institution. In Phase 1, data was collected from all skin biopsies performed …


A Case Of Unilateral Jerking Movements In A Patient With Uncontrolled Type 2 Diabetes Mellitus, Mark Cheneler, Tapannita Padhi, Khizir Qureshi, Carlos Bahrami Apr 2023

A Case Of Unilateral Jerking Movements In A Patient With Uncontrolled Type 2 Diabetes Mellitus, Mark Cheneler, Tapannita Padhi, Khizir Qureshi, Carlos Bahrami

North Texas GME Research Forum 2023

Hemichorea-hemiballismus (HCHB) syndrome is a syndrome characterized by choreic movements which are irregular, nonrepetitive, and random movements and ballismus which are spontaneous, violent movements. HCHB syndrome is a rare presentation which can be precipitated by uncontrolled diabetes and is thought to have multiple plausible mechanisms. One mechanism of HCHB with uncontrolled diabetes is ischemic injury in the basal ganglia causing impaired gross motor control. Presented here is a case of HCHB syndrome initially seen on imaging and later correlated with physical examination. This patient presented for nonspecific complaints of fatigue, generalized weakness, and lower extremity weakness. On evaluation by EMS …


Post-Thrombotic Syndrome: Assessing Medical City Weatherford Resident Physicians’ Knowledge In Diagnosis, Treatment, And Prevention, Hiral Thakkar, Aaron Kolar Apr 2023

Post-Thrombotic Syndrome: Assessing Medical City Weatherford Resident Physicians’ Knowledge In Diagnosis, Treatment, And Prevention, Hiral Thakkar, Aaron Kolar

North Texas GME Research Forum 2023

Post-thrombotic syndrome (PTS) is a relatively understudied sequelae of deep vein thrombosis (DVT). PTS typically presents with similar signs and symptoms as chronic venous insufficiency (CVI) and treatment modalities also mirror each other with the use of compression therapy, emollients, and topical steroids. The contrast is PTS is a direct result of a DVT, and DVTs can be prevented. Thus, it is essential that physicians are able to differentiate and effectively treat both PTS and CVI. Since PTS is widely understudied, the goal of our project is educate residents and other medical professionals on the full scope of PTS including …


Capnocytophaga Canimorsus Infection In A Hispanic Male After A Dog Bite, Ahmad Ahsen, Shin Kang, Jack Lee, Jose Sanchez, Fadi Albahra, Stephen Chabot, Tariq Zain, Ranjit Nair Apr 2023

Capnocytophaga Canimorsus Infection In A Hispanic Male After A Dog Bite, Ahmad Ahsen, Shin Kang, Jack Lee, Jose Sanchez, Fadi Albahra, Stephen Chabot, Tariq Zain, Ranjit Nair

North Texas GME Research Forum 2023

Here we present a unique case of a 38-year-old Hispanic male with a history of alcohol abuse and multiple sexual partners, who presented with fulminant sepsis with shock, multiorgan failure, and livedo racemosa after a dog bite a week prior. Patient was intubated on arrival and started on vasopressors and antibiotics. He later developed gangrene of all of extremities, due to the severity of hypoperfusion and disseminated intravascular coagulation (DIC). Eventually, the patient’s clinical status improved, and he was transferred out of the intensive care unit (ICU). Peripheral blood smear showed gram-negative intracellular rods. Blood cultures tested positive for gram-negative …


Platelets In Preeclamptic Pregnancies Fail To Exhibit The Decrease In Mitochondrial Oxygen Consumption Rate Seen In Normal Pregnancies, Joseph Kim, Andrew Malinow, Rosemary Schuh Apr 2023

Platelets In Preeclamptic Pregnancies Fail To Exhibit The Decrease In Mitochondrial Oxygen Consumption Rate Seen In Normal Pregnancies, Joseph Kim, Andrew Malinow, Rosemary Schuh

North Texas GME Research Forum 2023

Cellular oxygen consumption and lactate production rates have been measured in both placental and myometrial cells to study obstetrics-related disease states such as preeclampsia. Platelet metabolic alterations indicate systemic bioenergetic changes that can be useful as disease biomarkers. We tested the hypothesis that platelet mitochondria display functional alterations in preeclampsia. Platelets were harvested from women in the third trimester of either a healthy, non-preeclamptic or preeclamptic pregnancy, and from healthy, non-pregnant women. Using Seahorse respirometry, we analyzed platelets for oxygen consumption (OCR) and extracellular acidification (ECAR) rates, indicators of mitochondrial electron transport and glucose metabolism, respectively. There was a 37% …


West Nile Virus Encephalitis With Status Epilepticus Treated With High-Dose Steroids: A Case Study, Sherwin Thomas, Sawroop Sandhu Apr 2023

West Nile Virus Encephalitis With Status Epilepticus Treated With High-Dose Steroids: A Case Study, Sherwin Thomas, Sawroop Sandhu

North Texas GME Research Forum 2023

West Nile virus (WNV) is a flavivirus endemic in the United States. WNV infection can present with a variety of non-neurologic and neurologic symptoms. Patients who present with WNV neuroinvasive disease have significant morbidity and mortality, with about 10% of cases resulting in death. There is currently no evidence-based treatment for WNV infection. Management is typically with supportive care. Some limited data shows corticosteroids as a possible treatment for neuroinvasive disease. This case report discusses a 55-year-old female patient who presented with altered mental status. She was found to be septic overnight and was found to be in status epilepticus …


Decreasing Rate Of Clabsi At Medical City North Hills With Implementation Of A “Central Line Cart”, William Mangin, Hong Lou, David Maldonado Apr 2023

Decreasing Rate Of Clabsi At Medical City North Hills With Implementation Of A “Central Line Cart”, William Mangin, Hong Lou, David Maldonado

North Texas GME Research Forum 2023

Central line associated blood stream infections (CLABSI) impart both a significant increase in mortality but also a substantial financial burden onto hospitals. Several processes have been shown to reduce the rate of CLABSIs, most of which have already been implemented at Medical City North Hills (MCNH) Hospital. Key areas of improvement are in those of compliance; namely, the implementation of a dedicated central line cart and a reminder check list to help staff. The project involved implementation of a dedicated line cart at MCNH Hospital. The cart contains supplies for placement of central lines, including trialysis catheters, and arterial lines. …


A Rare Case Of Gigantic Ascending Aortic Arch Thrombus, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle Apr 2023

A Rare Case Of Gigantic Ascending Aortic Arch Thrombus, Srujana Dasari, Akhil R. Gade, Nethuja Salagundla, Chandralekha Ashangari, Rashonda Carlisle

North Texas GME Research Forum 2023

An ascending aortic arch thrombus (ACT) is a rare finding in an anatomically normal aorta. It can be seen with aortic dissection or aneurysm. Complications of large thrombus like stroke or systemic emboli are less likely when found in normal aorta. Even with the low risk embolic events, it is even less likely if patients are on therapeutic anticoagulation. Here we discuss this rare case in detail. 49 y/o with PMHx of HTN, HLD, COVID19, DVT s/p thrombectomy, noncompliant with warfarin, ICH from fall presents with left-sided weakness and blurry vision. MRI head showed scattered acute infarction along right PCA …


Early Diagnosis Of Purulent Pericarditis Secondary To Methicillin-Sensitive Staphylococcus Aureus In An End-Stage Renal Disease Patient, Stephen Shey, Alejandro Espinosa-Tello, Amnah Andrabi Apr 2023

Early Diagnosis Of Purulent Pericarditis Secondary To Methicillin-Sensitive Staphylococcus Aureus In An End-Stage Renal Disease Patient, Stephen Shey, Alejandro Espinosa-Tello, Amnah Andrabi

North Texas GME Research Forum 2023

Introduction Purulent pericarditis is a rare illness in the modern age of medicine due to the increased usage of antibiotics. Unfortunately, diagnosis of this disease is often delayed due to its nonspecific symptoms. Without treatment, the mortality is nearly one hundred percent due to major complications such as cardiac tamponade and constrictive pericarditis. As a result, most cases of purulent pericarditis are discovered post-mortem. This case report details an early diagnosis of purulent pericarditis secondary to methicillin-sensitive Staphylococcus aureus (MSSA) in an end-stage renal disease (ESRD) patient. Case Presentation A 66-year-old female with past medical history of ESRD initially presented …


The Genetic Determinants Of Recurrent Somatic Mutations In 43,693 Blood Genomes, Joshua S Weinstock, Cecelia A Laurie, Jai G Broome, Kent D Taylor, Xiuqing Guo, Alan R Shuldiner, Jeffrey R O'Connell, Joshua P Lewis, Eric Boerwinkle, Kathleen C Barnes, Nathalie Chami, Eimear E Kenny, Ruth J F Loos, Myriam Fornage, Susan Redline, Brian E Cade, Frank D Gilliland, Zhanghua Chen, W James Gauderman, Rajesh Kumar, Leslie Grammer, Robert P Schleimer, Bruce M Psaty, Joshua C Bis, Jennifer A Brody, Edwin K Silverman, Jeong H Yun, Dandi Qiao, Scott T Weiss, Jessica Lasky-Su, Dawn L Demeo, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Michael H Cho, Ramachandran S Vasan, Andrew D Johnson, Lisa R Yanek, Lewis C Becker, Sharon Kardia, Jiang He, Robert Kaplan, Susan R Heckbert, Nicholas L Smith, Kerri L Wiggins, Donna K Arnett, Marguerite R Irvin, Hemant Tiwari, Adolfo Correa, Laura M Raffield, Yan Gao, Mariza De Andrade, Jerome I Rotter, Stephen S Rich, Ani W Manichaikul, Barbara A Konkle, Jill M Johnsen, Marsha M Wheeler, Brian S Custer, Ravindranath Duggirala, Joanne E Curran, John Blangero, Hongsheng Gui, Shujie Xiao, L Keoki Williams, Deborah A Meyers, Xingnan Li, Victor Ortega, Stephen Mcgarvey, C Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, M Benjamin Shoemaker, Dawood Darbar, Dan Roden, Christine Albert, Charles Kooperberg, Pinkal Desai, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Rasika Mathias, Pradeep Natarajan, Siddhartha Jaiswal, Alexander P Reiner, Alexander G Bick, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium Apr 2023

The Genetic Determinants Of Recurrent Somatic Mutations In 43,693 Blood Genomes, Joshua S Weinstock, Cecelia A Laurie, Jai G Broome, Kent D Taylor, Xiuqing Guo, Alan R Shuldiner, Jeffrey R O'Connell, Joshua P Lewis, Eric Boerwinkle, Kathleen C Barnes, Nathalie Chami, Eimear E Kenny, Ruth J F Loos, Myriam Fornage, Susan Redline, Brian E Cade, Frank D Gilliland, Zhanghua Chen, W James Gauderman, Rajesh Kumar, Leslie Grammer, Robert P Schleimer, Bruce M Psaty, Joshua C Bis, Jennifer A Brody, Edwin K Silverman, Jeong H Yun, Dandi Qiao, Scott T Weiss, Jessica Lasky-Su, Dawn L Demeo, Nicholette D Palmer, Barry I Freedman, Donald W Bowden, Michael H Cho, Ramachandran S Vasan, Andrew D Johnson, Lisa R Yanek, Lewis C Becker, Sharon Kardia, Jiang He, Robert Kaplan, Susan R Heckbert, Nicholas L Smith, Kerri L Wiggins, Donna K Arnett, Marguerite R Irvin, Hemant Tiwari, Adolfo Correa, Laura M Raffield, Yan Gao, Mariza De Andrade, Jerome I Rotter, Stephen S Rich, Ani W Manichaikul, Barbara A Konkle, Jill M Johnsen, Marsha M Wheeler, Brian S Custer, Ravindranath Duggirala, Joanne E Curran, John Blangero, Hongsheng Gui, Shujie Xiao, L Keoki Williams, Deborah A Meyers, Xingnan Li, Victor Ortega, Stephen Mcgarvey, C Charles Gu, Yii-Der Ida Chen, Wen-Jane Lee, M Benjamin Shoemaker, Dawood Darbar, Dan Roden, Christine Albert, Charles Kooperberg, Pinkal Desai, Thomas W Blackwell, Goncalo R Abecasis, Albert V Smith, Hyun M Kang, Rasika Mathias, Pradeep Natarajan, Siddhartha Jaiswal, Alexander P Reiner, Alexander G Bick, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium

Faculty, Staff and Student Publications

Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs. Inherited germline variation associated with RNMSM acquisition. These variants were found in genes involved in adaptive immune function, proinflammatory cytokine production, and lymphoid …


Simultaneous Inhibition Of Erbb3 And Calmodulin-Mediated Signaling Effectively Inhibits Malignant Peripheral Nerve Sheath Tumor Proliferation And Survival, Laurel Black Apr 2023

Simultaneous Inhibition Of Erbb3 And Calmodulin-Mediated Signaling Effectively Inhibits Malignant Peripheral Nerve Sheath Tumor Proliferation And Survival, Laurel Black

MUSC Theses and Dissertations

Patients with Neurofibromatosis Type 1 have germline mutations in the neurofibromin gene (NF1) and are prone to develop tumors in the nervous system and elsewhere throughout their lifespan. Loss-of-function mutations of the remaining functional copy of the NF1 tumor suppressor gene in the Schwann cell lineage results in development of benign tumors known as dermal and plexiform neurofibromas. Mutations in additional tumor suppressor genes, like p53 and CDKN2A, subsequently transforms plexiform neurofibromas into highly aggressive malignant peripheral nerve sheath tumors (MPNSTs). At present, no effective treatments are available for MPNSTs, in fact some approaches make these tumors more aggressive. Since …


Head And Neck Tumor Histopathological Image Representation With Pre- Trained Convolutional Neural Network And Vision Transformer, Ranny Rahaningrum Herdiantoputri, Daisuke Komura, Tohru Ikeda, Shumpei Ishikawa Apr 2023

Head And Neck Tumor Histopathological Image Representation With Pre- Trained Convolutional Neural Network And Vision Transformer, Ranny Rahaningrum Herdiantoputri, Daisuke Komura, Tohru Ikeda, Shumpei Ishikawa

Journal of Dentistry Indonesia

Image representation via machine learning is an approach to quantitatively represent histopathological images of head and neck tumors for future applications of artificial intelligence-assisted pathological diagnosis systems. Objective: This study compares image representations produced by a pre-trained convolutional neural network (VGG16) to those produced by a vision transformer (ViT-L/14) in terms of the classification performance of head and neck tumors. Methods: W hole-slide images of five oral t umor categories (n = 319 cases) were analyzed. Image patches were created from manually annotated regions at 4096, 2048, and 1024 pixels and rescaled to 256 pixels. Image representations were …


Patient Experience In An Interprofessional Collaborative Practice For Underserved Patients With Heart Failure, Connie White-Williams, Maria R. Shirey, Reid Eagleson, Wei Su, Terri Poe, Brittany Fitts, Vera Bittner Apr 2023

Patient Experience In An Interprofessional Collaborative Practice For Underserved Patients With Heart Failure, Connie White-Williams, Maria R. Shirey, Reid Eagleson, Wei Su, Terri Poe, Brittany Fitts, Vera Bittner

Patient Experience Journal

Heart failure is a complex chronic condition that results in multiple patient visits throughout the care continuum. Patient experience has associations with clinical outcomes. The purpose of this study was to examine patient experience among the underserved in a specialized interprofessional collaborative practice heart failure clinic. This prospective study utilized both qualitative and quantitative data to describe the patient experience within an interprofessional collaborative practice. Data were collected from patient experience surveys in 1128 patients seen in the Heart Failure Transitional Care Services for Adults (HRTSA) clinic between January 1, 2018, and December 31, 2021. Interprofessional collaborative practice surveys were …


Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman Apr 2023

Cerebal Venous Sinus Thrombosis In A Patient With Smith-Magenis Syndrome, Hovra Zahoor, Ameer Hamza, Daniel Vather-Wu, Nilmarie Guzman

South Atlantic Division GME Research Day 2023

No abstract provided.


Acute Thalamic Stroke In A Covid Positive Adult: A Case Report, Norberto Escobales, Daniel Kiehl, Michelle Militello, Aleger Vorbes Apr 2023

Acute Thalamic Stroke In A Covid Positive Adult: A Case Report, Norberto Escobales, Daniel Kiehl, Michelle Militello, Aleger Vorbes

South Atlantic Division GME Research Day 2023

No abstract provided.


Glaucoma Associated With Sinusitis: A Case Report, Nawzad Jacksi, Jennifer Chapman, Martin Wegman Apr 2023

Glaucoma Associated With Sinusitis: A Case Report, Nawzad Jacksi, Jennifer Chapman, Martin Wegman

South Atlantic Division GME Research Day 2023

No abstract provided.


Artificial Intelligence In Colonoscopy In A Community Setting, Kunaal Patel, Brett Vanleer-Greenberg Apr 2023

Artificial Intelligence In Colonoscopy In A Community Setting, Kunaal Patel, Brett Vanleer-Greenberg

South Atlantic Division GME Research Day 2023

No abstract provided.


A Case Of An African American Female Presenting With Idiopathic Granulomatous Lobular Mastitis, Wendy Timirau, Esra Sari, Maham Shahid, Nilmarie Guzman, Augusto Villegas Apr 2023

A Case Of An African American Female Presenting With Idiopathic Granulomatous Lobular Mastitis, Wendy Timirau, Esra Sari, Maham Shahid, Nilmarie Guzman, Augusto Villegas

South Atlantic Division GME Research Day 2023

No abstract provided.