Diseases Commons^™

Investigating The Role Of The Skeletal Muscle In Amyotrophic Lateral Sclerosis Neuromuscular Junction Dysfunction, Agnes Badu-Mensah

Electronic Theses and Dissertations, 2020-2023

Neuromuscular junction (NMJ) dysfunction has been identified as one of the earliest events in Amyotrophic Lateral Sclerosis (ALS) pathology. However, which tissue type induces NMJ disruption; be it the motoneurons (hMN), Schwann cells or skeletal muscle (hSKM) remains unresolved. While mechanisms by which ALS hMN contribute to NMJ dysfunction are well-described in literature, limited information exist on how the other tissue types in the tripartite synapse (hSKM and Schwann cells) induce and/or contribute to ALS NMJ disruption. A fair understanding of the role of each tissue type in NMJ dysfunction would help shape the trajectory of future ALS research and …

Role Of Meibum And Tear Phospholipids In The Evaporative Water Loss Associated With Dry Eye., Samiyyah M. Sledge

Electronic Theses and Dissertations

It is generally believed that the tear film lipid surface film inhibits the rate of evaporation (Revap) of the underlying tear aqueous. It is also generally believed that changes in the composition of the tear film lipid layer is responsible for an increase in Revap in patients with dry eye. Both of these ideas have never been proven. The purpose of the current studies was to test these ideas. Revap was measured in vitro gravimetrically. Lipid spreading was measured using Raman spectroscopy and microscopy. The influence of the following surface films on the Revap of the sub phase of physiologically …

Role Of Ataxia Telangiectasia Mutated Kinase In Western-Type Diet-Induced Cardiac Outcomes Under Basal And Ischemic Conditions, Mary Wingard

Electronic Theses and Dissertations

Ataxia-telangiectasia mutated kinase (ATM), a serine/threonine kinase, plays a role in DNA damage repair, redox sensing, and metabolism. In the heart, ATM contributes significantly in the myocardial infarction (MI)-induced cardiac remodeling with effects on fibrosis, hypertrophy, apoptosis and inflammation. This study investigates the role of ATM deficiency in 14 weeks Western-type diet (WD)-induced cardiac outcomes prior to and 1-day post-MI in a sex-specific manner using wild-type (WT) and ATM heterozygous knockout (hKO) mice. In male mice, ATM deficiency induced rapid body weight gain and preload-associated dysfunction, while WT mice displayed afterload-associated dysfunction 14 weeks post-WD. Myocyte apoptosis and hypertrophy were …

Attenuated Negative Feedback In Monocyte-Derived Macrophages From Persons Living With Hiv: A Role For Ikaros, Celeste Faia, Karlie Plaisance-Bonstaff, Cecilia Vittori, Dorota Wyczechowska, Adam Lassak, Mary Meyaski-Schluter, Krzysztof Reiss, Francesca Peruzzi

School of Medicine Faculty Publications

Persons living with HIV (PLWH) are at higher risk of developing secondary illnesses than their uninfected counterparts, suggestive of a dysfunctional immune system in these individuals. Upon exposure to pathogens, monocytes undergo epigenetic remodeling that results in either a trained or a tolerant phenotype, characterized by hyper-responsiveness or hypo-responsiveness to secondary stimuli, respectively. We utilized CD14+ monocytes from virally suppressed PLWH and healthy controls for in vitro analysis following polarization of these cells toward a pro-inflammatory monocyte-derived macrophage (MDM) phenotype. We found that in PLWH-derived MDMs, pro-inflammatory signals (TNFA, IL6, IL1B, miR-155-5p, and IDO1) dominate over negative feedback signals (NCOR2, …

Septic Pulmonary Embolism Causing Recurrent Pneumothorax In An Intravenous Drug User Without Right-Sided Valvular Vegetation In Infective Endocarditis, Mason Montano, Kevin Lee, Kushal Patel, Mutsumi Kioka

Department of Internal Medicine Faculty Research

The following report illustrates a case of a 36-year-old Caucasian male with intravenous drug use (IVDU) induced septic thrombophlebitis presenting with recurrent unilateral pneumothoraces from septic pulmonary embolism (SPE) without the presence of obvious right-sided valvular vegetation in infective endocarditis (IE), defined as tricuspid or pulmonary valve lesions. Pneumothorax (PTX) has been observed as a rare complication of SPE and is commonly associated with infective right-sided IE, IVDU, and intravascular indwelling catheters. However, this case is novel as it is the very rare documented case of recurrent, unilateral, spontaneous right PTX refractory to multiple chest tube placements in such a …

Stimulating The Facial Nerve To Treat Ischemic Stroke: A Systematic Review, Turner S. Baker, Justin Robeny, Danna Cruz, Alexis Bruhat, Alfred-Marc Iloreta, Anthony Costa, Thomas James Oxley

Publications and Research

Acute ischemic stroke (AIS) is a common devastating disease that has increased yearly in absolute number of cases since 1990. While mechanical thrombectomy and tissue plasminogen activator (tPA) have proven to be effective treatments, their window-of-efficacy time is very short, leaving many patients with no viable treatment option. Over recent years there has been a growing interest in stimulating the facial nerves or ganglions to treat AIS. Pre-clinical studies have consistently demonstrated an increase in collateral blood flow (CBF) following ganglion stimulation, with positive indications in infarct size and neurological scores. Extensive human trials have focused on trans-oral electrical stimulation …

A Rare Combination Of Persistent Left Superior Vena Cava And Partial Anomalous Pulmonary Venous Return, Sang Lee, Bishoy Elbebawy, Neena Joy, George Demosthenes, William Deluccia

Advances in Clinical Medical Research and Healthcare Delivery

A persistent left superior vena cava (LSCV) is a form of anomalous venous drainage of the superior vena cava into the left atrium. We present a case of LSCV and partial anomalous pulmonary venous return (PAPVR) in a patient with progressively worsening dyspnea on exertion. A 57-year-old female with a history of aortic valve stenosis, and tobacco abuse presented with dyspnea on exertion for 4 days. On presentations her vitals were unremarkable except elevated blood pressure and oxygen saturation of 94% on 5L oxygen. Physical exam was pertinent for 3/6 crescendo-decrescendo murmur with a radiation to the right carotid, mild …

Kinematic Assessment Of Turning And Walking Tasks Among Stroke Survivors By Employing Wearable Sensors And Pressure Platform, Masoud Abdollahi, Pranav Madhav Kuber, Christopher Hoang, Michael Shiraishi, Rahul Soangra, Ehsan Rashedi

Physical Therapy Faculty Articles and Research

Stroke survivors often experience reduced movement capabilities due to alterations in their neuromusculoskeletal systems. Modern sensor technologies and motion analyses can facilitate the determination of these changes. Our work aims to assess the potential of using wearable motion sensors to analyze the movement of stroke survivors and identifying the affected functions. We recruited 10 participants (5 stroke survivors, 5 healthy individuals) and conducted a controlled laboratory evaluation for two of the most common daily activities: turning and walking. Among the extracted kinematic parameters, range of trunk and sacrum lateral bending in turning were significantly larger in stroke survivors (p-value<0.02). However, no statistical difference in mean angular velocity and range of motion for trunk/sacrum/shank flexion-extension were obtained in the turning task. Our results also indicated that during walking, while there was no difference in swing time, double support portion of gait among the stroke group was significantly larger (p-value = 0.001). Outcomes of this investigation may help in designing new rehabilitation programs for stroke and other neurological disorders and/or in improving the efficacy of such programs.Clinical Relevance— This study may provide a better insight on the detailed functional differences between stroke survivors and healthy individuals which in turn could be used to develop a more efficient rehabilitation program for stroke community.

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Multiple Sclerosis And Its Symptom Management Through Supplementation And Dietary Planning, Lindsey J. Davis

Selected Honors Theses

Multiple Sclerosis (MS) is an autoimmune, neuroinflammatory disorder that is characterized by the breakdown of myelinated axons in the Central and Peripheral Nervous Systems. It is a potentially debilitating autoimmune disease that affects almost 1 million people in the United States, and nearly 2.5 million people worldwide. The precise etiology of MS is still being researched, but much progress has been made towards understanding the molecular mechanisms and impactful ways to treat this disease. While there is still no cure, new treatment plans are constantly being orchestrated in effort to alleviate the burden that MS carries. Combination treatment plans have …

Angiogenesis' Effect Overall On Health And Disease, Wendy Tang

The Cardinal Edge

Angiogenesis plays a major role in the development of diseases and cancer. The development of illnesses like metastatic breast cancer, cell carcinomas, tumors and various other illnesses, originate from the activation of endothelial cells. When the vascular endothelial growth factor (VEGF) is released from hypoxic tissues, they bind to vascular endothelial growth factor receptors (VEGFR). The binding of VEGF and VEGFR allows for cellular proliferation, increased migration of lattice networks, and the invasion of endothelial cells, which stimulate the formation of new blood vessels from pre-existing ones. As a result, it can be concluded that the inhibition of VEGFs would …

The Onset Of Exercise-Associated Hyponatremia And Individual Differences In Inappropriate Arginine Vasopressin Excretion: A Review Of Proposed Mechanisms, Michelle Stehman, Stephen A. Maris

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 2: Issue 1, Article 10, 2021. Exercise-associated hyponatremia (EAH) has been reported to develop during endurance events such as triathlons and marathons. As these events become more popular, the incidence of developing EAH also increases. The development of EAH is commonly associated with the overconsumption of hypotonic fluids such as water and tends to be more prevalent in females. There is also evidence to suggest the inappropriate secretion of arginine vasopressin (AVP) leading to water retention may predispose an individual for developing EAH, especially when coupled with the overconsumption of fluids. Recent research …

Gene Expression Profiling Of Mapk Pathway Inhibitor Resistance In Cutaneous Melanoma: Can Bioinformatics Be Used To Select Better Melanoma Cell Lines?, Stephen Luebker

Theses & Dissertations

Melanoma is the deadliest form of skin cancer, and incidence has continued to increase. Half of all melanomas have a BRAF V600E mutation and respond to MAPK pathway inhibitors, including BRAF inhibitor therapy or BRAF/MEK inhibitor combination therapy, but nearly all patients develop treatment resistance. Melanoma cell lines produce variable results as models of MAPK pathway inhibitor resistance. To better understand how the genomic similarity of a melanoma cell line to patient-derived tumors affects resistance mechanisms, differences in DNA mutations and copy-number alterations were compared between melanoma cell lines profiled by the Cancer Cell Line Encyclopedia and cutaneous melanoma tumors …

Osteoporosis Implications For The Aging Adult, Grace Alford

Nursing Student Class Projects (Formerly MSN)

This poster describes the pathophysiology, symptoms, implications for care, and treatment of osteoporosis for advanced practice RNs. The research was conducted within health-related databases. The literature review narrowed the search to only include the pathophysiology, interventions, and care for osteoporosis. Literature was restricted to within the past five years. The research showed that osteoporosis reduces mineral density in bones and can be adequately treated within a short amount of time. It is important for nurses and advanced practice providers to be aware of current guidelines, screenings, and treatments for osteoporosis.

Comprehensive Review And Update Of Burning Eye Syndrome, Stephen Giacomazzi, Ivan Urits, Briggs Hoyt, Ashley Hubble, Elyse M. Cornett, Kyle Gress, Karina Charipova, Amnon A. Berger, Hisham Kassem, Alan D. Kaye, Omar Viswanath

Journal of Patient-Centered Research and Reviews

Keratoconjunctivitis sicca (“dry eye”) is a common (14%–30% of adults over age 48) though difficult to treat condition that causes both discomfort and disability with associated dryness, pain, and visual disturbances. Etiology is not clearly understood but is likely varied, with a subset of patients suffering from chronic neuropathic pain referred to as “burning eye syndrome.” This review of existing literature summarizes the clinical presentation, natural history, pathophysiology, and treatment modalities of burning eye syndrome.

Chronicity of burning eye syndrome is likely secondary to increased nociception from the cornea, decrease in inhibitory signals, and nerve growth factor expression alterations. Treatment …

Impact Of Scabies On Indonesian Public Boarding School Students’ Quality Of Life: A Mixed-Method Analysis, Sri Linuwih Sw Menaldi, Danny Surya, Valensia Vivian The, Melani Marissa

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Scabies is a neglected tropical disease in which people affected primarily presents with intense pruritus. The disease is often recurrent, especially in people living in close contacts, such as in a community; thus, it negatively impacts their quality of life (QoL).This study analyzes the impact of pruritus in scabies on the QoL of patients living in a public boarding school (PBS) in West Java, Indonesia.

Methods: This study is a mixed-method study conducted on 39 subjects. TheQoL was examined using the Indonesian version of the dermatology life quality index (DLQI) questionnaire and in-depth interviews.

Results: Most …

Prevalence Of Cutibacterium Acnes And Staph Spp. In The Lesions Of Acne Vulgaris In Jakarta, Melyawati Hermawan, Enty Tjoa, Inneke J. Hidajat, Maria Teressa, Eka B. Layadi, Alegra Wolter

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Acne vulgaris (AV) is a chronic skin disorder that is commonly seen in young adults. Recent studies have shown that bacteria other than Cuticubacterium acnes found in the skin microbiota also play vital roles in the pathogenesis of AV. Understanding the skin microbiota and its disruption in patients with AV is paramount in treating patients with AV.

Methods: Samples were obtained from 36 subjects to evaluate the proportion of Cutibacterium acnes, Staphylococcus epidermidis, and Staphylococcus aureus in lesions of AV by means of bacterial culture.

Results: There were 69 specimens collected from the 36 subjects with …

A Comparison Of Single-Dose Versus Divided-Dose Of Metronidazole On Bacterial Vaginosis Among Female Sex Workers In Surakarta, Willa Damayanti, Rini Hastuti, Agung Triana, Danu Yuliarto, Ardelia Dyah Ayu, Endra Yustin Ellistasari

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Bacterial vaginosis (BV) is the most common vaginal infection in sexually active women. Metronidazole (MTZ) is still one of the recommended regimens for BV either as a single-dose or divided-dose. In addition to its affordability and availability, oral metronidazole also produces fewer adverse effects. This study aimedto determine the efficacy of single-dose versus divided-dose metronidazole for BV among female sex workers (FSWs) in Surakarta.

Methods: A single-blind randomized clinical trial was conducted in Surakarta. FSWswith BV (⩾3 Amsel criteria) were enrolled. The subjects were grouped into two, and treated with MTZ either as a single-dose of …

Multisystem Langerhans Cell Histiocytosis In High-Risk Group: A Case Series Of Two Infants, Anggun Putri Yuniaswan, Putri Rachma Safitri, Diah Prabawati Retnani

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Langerhans Cell Histiocytosis (LCH) has diverse manifestations, from asymptomatic to aggressive, which involves many organs. Histopathological examination playsa crucialrole as a basic diagnostic standard for LCH. Writing Group of the Histiocyte Society proposes a guideline for diagnosing LCH, divided into presumptive, designated, and definitive diagnosis.

Case Illustration: Two cases of a 14 month-old girl and an 18 month-old girl presented similar clinical manifestation and multi-organ involvement. Dermatological examination revealed red papules and plaques covered by brownish scales and crusts on the scalp and body, erosion in some folds of the body. Histopathological examination of the first case …

Basal Cell Carcinoma In A 14-Year-Old: A Rare Case Of A Common Skin Cancer, Danang Tri Wahyudi, Firman Parrol, Aida Sofiati Hoemardani, Agassi Suseno Sutarjo

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Basal cell carcinoma (BCC) is the most common cutaneous malignancy. It usually arises in sun-exposed areas of the body, with the face and neck being the most common sites for BCC. BCC is typically found in older individuals, but it is becoming more prevalent in people younger than 50. However, such cases in children under 15 are rarely encountered. Pigmented BCC is a common presentation in people of color, while such presentation is relatively unusual in Caucasians. Pediatric cases could be idiopathic, but it is more commonly associated with a genetic defect, such as basal cell nevus syndrome, …

Noninvasive Diagnostic Modality For Skin Cancer, Remenda Siregar, Raja Nurhayati, Widyaningsih Oentari, Ari Karmila Sari

Journal of General - Procedural Dermatology and Venereology Indonesia

Histopathological examination is the gold standard for the diagnosis of nonmelanoma and melanoma skin cancer, but it is an invasive procedure that consumes time and requires large costs. The average cure rate for skin cancer is high with early detection and appropriate treatment. This is an article review that was made through findings from several scientific articles. There are several noninvasive imaging modality choices that can be used for screening at low cost, high quality, and faster result, which includes dermoscopy, optical coherence tomography, reflectance confocal microscopy, electrical impedance spectroscopy, multispectral imaging, and SIAscopy®. These imaging modalities can assist in …

Clinical Characteristics And Treatment Regimen Of Pemphigus Patients: A Retrospective Study, Windy Keumala Budianti, Eyleny Meisyah Fitri, Puti Rineska Meilinda, Endi Novianto, Shafira Anindya, Arlha Aporia Debinta

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Pemphigus is a potentially life-threatening autoimmune bullous disease. In pemphigus, the therapeutic options are based on the clinical characteristics of each patient. However, other than corticosteroids, most therapeutic options for pemphigus are currently limited. Steroid-sparing agents might be considered since the initiation of therapy to prevent the side effects of corticosteroid. The objective of this study is to identify the clinical characteristics and therapy of choice in patients with pemphigus at Dr. Cipto Mangunkusumo General Hospital.

Method: All cases of pemphigus from 2016 to 2018 at Dermato-Allergo-Immunology Clinic, Department of Dermatology and Venerology Dr. Cipto Mangunkusumo General …

Alternative Modality In The Treatment Of Acne Vulgaris: Low Level Laser Therapy, Rudi Chandra, Nelva K. Jusuf

Journal of General - Procedural Dermatology and Venereology Indonesia

Acne vulgaris is a chronic inflammatory disease of the pilosebaceous unit with polymorphic manifestations. The four key elements leading to the formation of acne lesions are alteration of follicular keratinization that leads to comedones, increased and altered sebum production under androgen control, follicular colonization by Propionibacterium acnes, and complex inflammatory mechanisms that involve both innate and acquired immunity. Phototherapy (light, lasers, and photodynamic therapy) has been proposed as an alternative therapeutic modality to treat acne vulgaris and is proposed to have less side effects compared to other treatment options. Recently, low-level laser (light) therapy (LLLT) which refers to the use …

Dermoscopy-Guided Carbon Dioxide Laser Destruction For Nevus Sebaceous: Two Case Reports, Larisa Paramitha Wibawa, Kuniaki Ohara

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Nevus sebaceous (NS) is a common hamartoma of the cutaneous adnexal structure, clinically appear as a well demarcated yellow-orange plaque, sometimes with verrucous surface. Dermoscopy may aid the diagnosis of NS and also guide carbon dioxide (CO2) laser therapy.

Case Illustration: Two cases of brown and yellowish plaque on the face, with clinical appearance, dermoscopic, and histopathological findings consistent with NS. The patients consented to undergo serial CO­2laser destruction, aimed to reduce recurrences and shorten the duration of the downtime. Dermoscopy aided in locating the area and the depth of each treatment.

Discussion: The dermoscopy finding …

Childhood-Onset Borderline Tuberculoid Leprosy With Reversal Reaction, Ramona D. Lubis, Mila Darmi, Rudi Chandra

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Leprosy is a chronic granulomatous infection caused by Mycobacterium lepraethat predominantly affects the skin and peripheral nerves. Leprosy among children is still common in endemic countries.

Case Illustration: A 12-year-old girl complained about a hypopigmented anesthetic patch on her face for 11 years, which became larger and spread slowly to her arms and legs. She had a history of close contact with her aunt, who was diagnosed with multibacillary leprosy. On slit-skin-smear test, acid-fast-bacilli (bacteriologic index +1) were found. She was diagnosed with multibacillary leprosy and treated with children’s multidrug therapy-multibacillary (MDT-MB) regimen. After 2 months of …

Assessment Of Pathogenic Changes In The Gut-Liver Axis In Plwh With Heavy Alcohol Drinking And Gut Dysbiosis Marked By Decreased Butyrogenic Potential., Smita Ghare, Vaughn Bryant, Richa Singhal, Sabina Gautam, Chanakya Charan Tirumala, Andrea Reyes-Vega, Craig J. Mcclain, Ronald Cohen, Varand Govind, Robert L. Cook, Shirish Barve

Faculty and Staff Scholarship

Purpose: People living with HIV infection (PLWH) experience increasing risk for non-AIDS diseases including liver dysfunction and injury. Both HIV-infection and heavy alcohol drinking (HAD) are known to cause gut microbial dysbiosis and systemic inflammation that may potentially contribute to altered Gut-Liver axis. However, the specific pathogenic features associated with combinatorial harmful effects of alcohol and HIV infection on gut-liver interactions are not completely understood. This study evaluate the pathogenic changes in the Gut-Liver axis in PLWH with HAD.

Machine Learning Classification Of Traumatic Brain Injury Patients Versus Healthy Controls Using Arterial Spin Labeled Perfusion Mri, Vanessa I. Grass

Dissertations, Theses, and Capstone Projects

Traumatic brain injury (TBI) is one of the most common causes of death and disability worldwide, yet accurate in vivo detection of TBI neuropathology remains challenging due to complexities in the structural and functional changes observed post-injury as well as limitations in conventional neuroimaging modalities. Although advanced neuroimaging techniques such as arterial spin labeling (ASL) can noninvasively assess cerebral blood flow (CBF) changes observed post-injury, this technique is underutilized in TBI research partly due to the low signal-to-noise-ratio (SNR) inherent in ASL imaging. The aim of the current study is to examine the use of machine learning, specifically a Support …

Bleeding Disorder Referrals To Hematology Clinic: A Single Institution Experience, Zuri Hudson

Research Days

Background: Our center receives hundreds of referrals yearly for bleeding disorder evaluation both due to bleeding symptoms and secondary to routine preoperative laboratory testing. The evaluation for a bleeding disorder can be challenging due to the wide variability of symptoms as well as the need for accurately interpreting lab results. Bhasin et al showed that 4% of patients referred to hematology based on a preoperative coagulation evaluation had a clinically relevant bleeding disorder. Currently there is little published about the referral patterns to pediatric hematology and the outcomes of these referrals.

Objectives/Goal: To characterize our hematology referrals for bleeding disorder …

Prenatal Diagnosis Of An Uncommon Form Of A Hypoplastic Left Heart Syndrome Variant., Anmol Goyal

Research Days

Background: Mitral valve dysplasia syndrome (MVDS) is a rare form of congenital heart disease, similar to hypoplastic left heart syndrome (HLHS). Prenatal identification is important for counseling, delivery planning and postnatal management.

Case: A 39 year-old woman underwent fetal echocardiography at ~34 weeks gestation for evaluation of fetal cardiomegaly and hydrops revealing: biatrial enlargement, mild-to-moderate mitral and tricuspid valve insufficiency, echobright mitral valve apparatus, biventricular dilation, severe LV fibroelastosis (EFE) and systolic dysfunction, mild hypoplasia of aortic valve annulus and aortic arch, and a thick restrictive atrial septum (RAS) with left to right flow (Fig 1a-c).

Decision‐making: Although critical aortic …

The Effects Of Mapk Signaling On The Development Of Cerebellar Granule Cells, Kerry Morgan

University Scholar Projects

The granule cells are the most abundant neuronal type in the human brain. Rapid proliferation of granule cell progenitors results in dramatic expansion and folding of the cerebellar cortex during postnatal development. Mis-regulation of this proliferation process causes medulloblastoma, the most prevalent childhood brain tumor. In the developing cerebellum, granule cells are derived from Atoh1-expressing cells, which arise from the upper rhombic lip (the interface between the roof plate and neuroepithelium). In addition to granule cells, the Atoh1 lineage also gives rise to different types of neurons including cerebellar nuclei neurons. In the current study, I have investigated the …