Medicine and Health Sciences Commons^™

Mcph1: A Novel Case Report And A Review Of The Literature, Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli

Department of Biological & Biomedical Sciences

Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. The first causative gene identified, MCPH1 or Microcephalin, encodes a centrosomal protein that modulates chromosome condensation and cell cycle progression. It is also involved in DNA damage response and telomere maintenance in the nucleus. Despite numerous studies on MCPH1 function, MCPH1-affected individuals are rare and the available clinical reports are …

Targeted Osmotic Lysis: A Novel Approach To Targeted Cancer Therapies, Harry J. Gould, Dennis Paul

School of Medicine Faculty Publications

The conventional treatment of cancer has been based on the delivery of non-selective toxins and/or ionizing energy that affect both the cancer and normal tissues in the hope of destroying the offending disease before killing the patient. Unfortunately, resistance often develops to these treatments and patients experience severe, dose-limiting adverse effects that reduce treatment efficacy and compromise quality of life. Recent advances in our knowledge of the biology of tumor cells and their microenvironment, the recognition of surface proteins that are unique to specific cancers and essential to cell growth and survival and signaling pathways associate with invasion and metastasis …

New Insights Into The Genetic Etiology Of Alzheimer’S Disease And Related Dementias, Céline Bellenguez, Fahri Küçükali, Iris Jansen, Luca Kleineidam, Sonia Moreno-Grau, Najaf Amin, Adam C. Naj, Rafael Campos-Martin, David W. Fardo, Yuriko Kastumata, Erin L. Abner, Radb, Gr@Ace, Degesco, Eadi, Gerad, Demgene, Finngen, Adgc, Charge

Sanders-Brown Center on Aging Faculty Publications

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly …

The Effect Of Scan And Patient Parameters On The Diagnostic Performance Of Ai For Detecting Coronary Stenosis On Coronary Ct Angiography, Rebecca Jonas, Emil Barkovich, Andrew D Choi, William F Griffin, Joanna Riess, Hugo Marques, Hyuk-Jae Chang, Jung Hyun Choi, Joon-Hyung Doh, Ae-Young Her, Bon-Kwon Koo, Chang-Wook Nam, Hyung-Bok Park, Sang-Hoon Shin, Jason Cole, Alessia Gimelli, Muhammad Akram Khan, Bin Lu, Yang Gao, Faisal Nabi, Ryo Nakazato, U Joseph Schoepf, Roel S Driessen, Michiel J Bom, Randall C Thompson, James J Jang, Michael Ridner, Chris Rowan, Erick Avelar, Philippe Généreux, Paul Knaapen, Guus A De Waard, Gianluca Pontone, Daniele Andreini, Marco Guglielmo, Mouaz H Al-Mallah, Robert S Jennings, Tami R Crabtree, James P Earls

Division of Internal Medicine Faculty Papers & Presentations

Objectives: To determine whether coronary computed tomography angiography (CCTA) scanning, scan preparation, contrast, and patient based parameters influence the diagnostic performance of an artificial intelligence (AI) based analysis software for identifying coronary lesions with ≥50% stenosis.

Background: CCTA is a noninvasive imaging modality that provides diagnostic and prognostic benefit to patients with coronary artery disease (CAD). The use of AI enabled quantitative CCTA (AI-QCT) analysis software enhances our diagnostic and prognostic ability, however, it is currently unclear whether software performance is influenced by CCTA scanning parameters.

Methods: CCTA and quantitative coronary CT (QCT) data from 303 stable patients (64 ± …

Sex-Specific Alterations In Hepatic Cholesterol Metabolism In Low Birth Weight Adult Guinea Pigs., Ousseynou Sarr, Katherine E Mathers, Christina Vanderboor, Kristina Wiggers, Aditya Devgan, Daniel B Hardy, Lin Zhao, Timothy Regnault

Paediatrics Publications

BACKGROUND: Intrauterine growth restriction and low birth weight (LBW) have been widely reported as an independent risk factor for adult hypercholesterolaemia and increased hepatic cholesterol in a sex-specific manner. However, the specific impact of uteroplacental insufficiency (UPI), a leading cause of LBW in developed world, on hepatic cholesterol metabolism in later life, is ill defined and is clinically relevant in understanding later life liver metabolic health trajectories.

METHODS: Hepatic cholesterol, transcriptome, cholesterol homoeostasis regulatory proteins, and antioxidant markers were studied in UPI-induced LBW and normal birth weight (NBW) male and female guinea pigs at 150 days.

RESULTS: Hepatic free and …

Parental Perspectives On The Transfer Process For Critically Ill Children, Saoirse Cameron, Anna C. Gunz

Paediatrics Publications

Objective: To understand parental stressors and identify potential stress-mitigators during interfacility transfer of critically ill children. Methods: Descriptive qualitative multi-case study using semi-structured interviews. This study involved caregivers of patients admitted to the Paediatric Critical Care Unit at Children’s Hospital, London Health Sciences Centre transported from outlying hospitals. Study participants were recruited through purposeful sampling. Interviews were recorded, transcribed verbatim and manually de-identified. Coding was performed by two independent coders using a standard method of content analysis to identify common themes. Results: Themes were identified and reached saturation after twelve interviews were completed. Children were admitted primarily from Northwestern and …

Self-Reported Arm Function Is Associated With Stress And Fear Of Physical Activity Among Women Treated For Breast Cancer, Mary Insana Fisher, Anne Fleischer, Kimberly Ulmer, Megan Mcclure, Renee Waldron, Lynn Difede

Physical Therapy Faculty Publications

Background: Self-reported upper extremity function and objective measures are not strongly associated with each other in women treated for breast cancer (BC). It is not known if the lack of relationship between self-reported upper extremity function and objective measurements may be influenced by perceived levels of stress and fear of physical activity. The purpose of this study was to investigate the relationships between self-reported upper extremity function and the following: perceived stress levels (PS), fear of physical activity (FPA), health-related quality of life (HRQOL), and objective measures of upper extremity function among women treated for BC.

Methods: This cross-sectional observational …

Mountains Of Evidence, Mary I. Fisher

Physical Therapy Faculty Publications

No abstract provided.

Psycho-Emotional Education For Occupational Therapists Supporting Individuals Assuming The Role Of Family-Caregiver For People With A Traumatic Brain Injury (Tbi), Laura Dawn Lippman, Caitlyn E. Baird, Natalie L. Billharz

2022 Celebration of Scholarly Works

The purpose of this research was to identify the psycho-emotional needs of family-caregivers of individuals who sustained a traumatic brain injury (TBI), and measure if there was a change in knowledge among occupational therapists, and occupational therapy students following a two-hour seminar covering topics identified in the literature. The topics covered in the seminar included the concept of ambiguous loss, the importance of validating emotions, the caregiver grieving process, and the importance of providing caregiver resources. To measure the change in knowledge, researchers utilized primarily a quantitative research design using pre- and post-test questionnaires with Likert- scale questions. The questionnaire …

Urinary Incontinence: Understanding The Silent Plight Of Women, Yasmin Nadeem Parpio, Anmol Minaz, Sonia Ijaz Haider

School of Nursing & Midwifery

Urinary incontinence (UI) is defined as the complaint of involuntary loss of urine. UI affects both men and women but is more common in women. It has been identified as a World Health Organization priority. The burden related to UI at local, national, and global levels is huge and its impact in terms of physical, social, mental, and financial aspects makes it a concerning issue. However, there exist several barriers in terms of knowledge and attitude in seeking healthcare among women experiencing UI. This calls upon a multi-disciplinary approach involving professionals from different disciplines and tackling it with collaborative and …

Knowledge And Practices Regarding Standard Precautions For Infection Control Among Nurses Working At A Public, Tertiary Care Hospital Islamabad, Pakistan, Samina Yasmeen, Tazeen Saeed Ali, Wardah Khalid, Zohra Kurji, Shair Muhammad Hazara, Shahzad Bashir

School of Nursing & Midwifery

Introduction: To protect patients and healthcare providers from healthcare-associated infections (HAIs), standard precautions have been promoted universally. Nurses are the forefront force in patient care; therefore, evidence-based and up to date knowledge and practices can play a vital role in helping nurses apply standard precautions (SPs).
Methods: The analytical cross-sectional study design was used. Through purposive sampling, the data were collected from 320 nurses, via, a self-administered questionnaire, from April to May 2017, from a public tertiary level hospital in Islamabad. The validity and reliability of each section was established. Mean and standard deviation were computed for continuous variables’ whereas; …

Healing In The Himalayas: Mustangi Medical Practitioners’ Perspectives On Integrative Approaches To Chronic Illness, Lucia Morey

Independent Study Project (ISP) Collection

The purpose of this Independent Study Project is to capture a snapshot of the opinions and experiences of 13 health practitioners from 7 villages and towns in Mustang. Specifically, I asked independent healers (IH), amchis and health post workers about their practices and perspectives on chronic illness, integrative medicine and the intersection of the two. I found that there is a flow of information in one general direction, with practitioners along a continuum of most to least globally recognized. Understandably, the least well known (independent healers) are aware of Traditional Tibetan Medicine (TTM) and conventional Western medicine (CWM). Subcategories of …

Epidemiological Profile And Clinico-Pathological Features Of Pediatric Gynecological Cancers At Moi Teaching & Referral Hospital, Kenya, Anisa W. Mburu, Peter M. Itsura, Elkanah Omenge, Philiph K. Tonui, Elly B. Odongo, Afrin F. Shaffi, Hellen N. Muliro, Thomas N. Achia, Allan L. Covens, Barry P. Rosen

Obstetrics and Gynaecology, East Africa

Background: The main pediatric (0–18 years) gynecologic cancers include stromal carcinomas (juvenile granulosa cell tumors and Sertoli-Leydig cell tumors), genital rhabdomyosarcomas and ovarian germ cell. Outcomes depend on time of diagnosis, stage, tumor type and treatment which can have long-term effects on the reproductive career of these patients. This study seeks to analyze the trends in clinical-pathologic presentation, treatment and outcomes in the cases seen at our facility. This is the first paper identifying these cancers published from sub-Saharan Africa.

Method: Retrospective review of clinico-pathologic profiles and treatment outcomes of pediatric gynecologic oncology patients managed at MTRH between 2010 and …

Non-Opioid Pharmacologic Agents In The Treatment Of Non-Cancer Chronic Pain In The Outpatient Setting, Diane Eannotti

DNP Projects

Opioid prescription related overdose deaths have increased substantially with evidence demonstrating only modest short-term benefits in chronic pain and thus represents the need to identify alternative treatments to opioids. A needs assessment performed for a federally qualified community health center revealed patients presently taking non-opioid pharmacologic agents in the treatment of chronic non-cancer pain (CNCP) needed additional education in managing multiple non-opioid medications. A targeted approach at improving patient experience and population health supporting the quadruple aim was undertaken with this project.

Purpose: The purpose of this quality improvement project consisted of performing medication management visits for 28 referred patients …

Improving Heart Failure Patient Referrals To The Center For Advanced Heart Failure & Pulmonary Vascular Disease At Hartford Hospital: A Quality Improvement Project, Dawn M. Surprenant

DNP Projects

Significance and Background: According to the Health Resources & Services Administration (2021), health literacy is the degree to which individuals have the capacity to process and understand basic health information to make appropriate health decisions. Low health literacy is prevalent in populations such as older adults, minorities, and in individuals with lower socioeconomic status and living in medical underserved areas. Recommendations are to access health literacy in cardiac patients, especially in the acute care setting to improve health outcomes upon discharge.

Purpose: To determine whether a health literacy assessment in hospitalized congested heart failure patients, before discharge, will affect referral …

Identifying The 'Vulnerable Plaque' In Asymptomatic Carotid Artery Disease Patients, Zia Ur Rehman

Department of Surgery

No abstract provided.

National Trends In Pectus Excavatum Repair: Patient Age, Facility Volume, And Outcomes, Shale J. Mack, Brian M. Till, Charles Huang, Darshak Thosani, Uzma Rahman, Tyler Grenda, Nathaniel R. Evans Iii, Olugbenga Okusanya

Department of Surgery Faculty Papers

Background: There is limited data on the adult repair of pectus excavatum (PE). Existing literature is largely limited to single institution experiences and suggests that adults undergoing modified Nuss repair may have worse outcomes than pediatric and adolescent patients. Using a representative national database, this analysis is the first to describe trends in demographics, outcomes, charges, and facility volume for adults undergoing modified Nuss procedure.

Methods: Because of a coding change associated with ICD-10, a retrospective cohort analysis using the National Inpatient Sample (NIS) for patients 12 or older undergoing modified Nuss repair between 2016-2018 was possible. Pearson's χ2 and …

Contralateral Control Rate With Unilateral Proton Beam Radiotherapy For Oropharyngeal Scc: A Multi-Institutional Prospective Study From The Proton Collaborative Group, Aleksander Vayntraub, Thomas Quinn, John Chang, Noah Kalman, Sanford Katz, James Urbanic, Arpi Thukral, Jason Molitoris, Craig Stevens, Rohan Deraniyagala

Conference Presentation Abstracts

Introduction: Select patients with oropharyngeal SCC are candidates for unilateral radiation therapy. We sought to investigate if ipsilateral targeting leads to increased contralateral recurrences. Methods: We queried the PCG database for patients treated with unilateral proton RT for head and neck SCC from 2015 – 2020 at 12 institutions. DICOMs were evaluated to ensure dose delivered matched a unilateral proton treatment plan. Demographic, clinical and pathological, toxicity and dosimetry information were compiled. Results: We found 43 cases treated with unilateral proton RT. 94% (n¼16) of recurrent cases received prior radiation. Oropharyngeal sites included tonsillar fossa (n¼32), and base of tongue …

Does Age-Related Macular Degeneration (Amd) Treatment Influence Patient Falls And Mobility? A Systematic Review., Hannah Garrigan, Jacquelyn N. Hamati, Parth Lalakia, Rosemary Frasso, Brooke Salzman, Leslie Hyman

Student Papers, Posters & Projects

PURPOSE: Age-related macular degeneration (AMD), a leading cause of irreversible blindness, increases fall risk through impaired central vision. Falls place an enormous economic burden on healthcare systems. We hypothesized that AMD treatments may reduce patients' falls risk. This systematic review (ID #: 172623) synthesized the current understanding of wet and dry AMD treatments' impact on patient falls and mobility, connecting these two public health issues.

METHODS: On April 17, 2020, PubMed, Scopus, CINAHL, and the Cochrane Central Register of Controlled Trials were queried. Clinical trials and observational studies were included, while non-English and non-primary studies were excluded. Two authors screened, …

A Case Series Of Three Patients With Rare Pantalar Dislocation, Marissa Mogavero, Andrew Robitaille, Lawrence M. Fallat

Articles

Total talar dislocations are rare, significant surgical challenges for foot and ankle surgeons. These dislocations can be very difficult to manually close-reduce, requiring immediate surgical intervention secondary to arterial impingement, pain and risk of skin necrosis attributable to skin tenting. In this case series, we report on three patients who presented to the emergency room following a traumatic ankle injury. Ankle radiographs and computed tomography (CT) scans were obtained, revealing pantalar dislocations. Closed reduction utilizing Charnley’s principles was attempted in the emergency room through manual accentuation of the deformity, traction and reduction. Closed reduction was unsuccessful in all three patients …

Longitudinal Analysis Of The Impact Of Oral Contraceptive Use On The Gut Microbiome, Xinwei Hua, Yueming Cao, David M Morgan, Kaia Miller, Samantha M Chin, Danielle Bellavance, Hamed Khalili

Department of Medicine Faculty Papers

Introduction. Evidence has linked exogenous and endogenous sex hormones with the human microbiome.Hypothesis/Gap statement. The longitudinal effects of oral contraceptives (OC) on the human gut microbiome have not previously been studied.Aim. We sought to examine the longitudinal impact of OC use on the taxonomic composition and metabolic functions of the gut microbiota and endogenous sex steroid hormones after initiation of OC use.Methodology. We recruited ten healthy women who provided blood and stool samples prior to OC use, 1 month and 6 months after starting OC. We measured serum levels of sex hormones, including estradiol, progesterone, sex hormone-binding …

The First Modeling Of The Spot-Scanning Proton Arc(Sparc) Delivery Sequence And Investigating Its Efficiency Improvement, Xuanfeng Ding, Gang Liu, Lewei Zhao, Rohan Deraniyagala, Craig Stevens, Di Yan, Xiaoqiang Li

Conference Presentation Abstracts

Purpose: Introduce an experimental approach to model a precise prototype arc system and quantitatively assess its efficiency improvement in the routine proton clinical operation. Methods: The SPArc delivery sequence model(DSMSPArc) includes two kinds of parameters:(1) mechanical parameters. (2) irradiation parameters. Log files and an independent gantry inclinometer were used to derive the irradiation parameters through a series of test plans. The in-house DSMSPArc was established by fitting both mechanical and irradiation parameters. Eight SPArc plans from different disease sites were used to validate the model’s accuracy. To assess the treatment efficiency improvement, the DSMSPArc was used to simulate the SPArc …

A Quantitative Dose Pertubation Comparison Study Between Gold And Platinum Visicoil Fiducial Markers In Proton Beam Therapy, Xuanfeng Ding, Gang Liu, Weili Zheng, Jessica Vadas, Xiaoqiang Li, Lewei Zhao, An Qin, Daniel Krauss, Di Yan

Conference Presentation Abstracts

Purpose: To quantitatively investigate the dose perturbations difference between gold and platinum VISICOILTM fiducial markers in proton beam therapy Method: Gold and platinum VISICOILTM fiducial markers with two different dimensions were tested, including 0.35 & 0.5mm in diameter and 5mm in length. Total four kinds of markers. Gafchromic EBT2 was used to measure dose perturbations along the beam path in a ‘‘sandwich’’ setup (Figure 1). Dose perturbation was reported in each depth (0.3mm, 1.65mm, 3.00mm, 5.40mm, 7.80mm, 10.20mm, 12.60mm, 18.15mm). Relative proton stopping power relative to water were calculated through National Institute of Standards and Technology database and SRIM (version …

Medical Norm Of Psychiatric Misdiagnoses In Rare Disease Patients, Rachel Han

Publications and Research

Spring 2022 ENG 120 Student Final Research Paper on the medical norm of psychiatric misdiagnosis throughout the diagnostic journeys of rare disease patients. The idea of a norm was taken from Chimamanda Ngozi Adichie's Tedx Talk "The Danger of a Single Story". Paper discusses prevalence, harmful effects, and origin of this medical norm. Includes discussion of statistical data quoted relating to prevalence of rare diseases as well as anecdotal evidence of the severe ramifications of this norm. Discussion of how medically unexplained symptoms such as mysterious chronic pain often lead to the phenomenon of the psychogenic inference. Origins of this …

Improved Cotard Delusion And Motor Function In Parkinson’S Disease Following Electroconvulsive Therapy (Ect), Sunihidi Ramesh, Jeffrey Ratliff

Department of Neurology Faculty Papers

No abstract provided.

Communicating Comfort In Crisis: A Literature Review On Overcoming The Emergency Room Environment To Foster The Nurse-Patient Relationship, Faith G. Davenport

Senior Honors Theses

The average emergency room patient is not receiving the compassionate nurse-patient communication that patients experience on other hospital floors. Fewer positive nurse-patient interactions prompt patients to state that they feel uncomforted and dissatisfied on hospital exit surveys, inciting hospital management to investigate how to reverse this trend to retain their federal funding. Emergency room nurses cite multiple barriers inherent in their work environment that prevent them from building rapport with their patients, including a layout not conducive to private conversations, strict time constraints, and a fluctuating workload. Working for a prolonged period under these conditions is driving many nurses to …

A Lesson Learned From Mounting A Motorcycle, Joseph Friedli, Tyler Drewry, Nobin Kottukapally, Carolyn Landsberg

Conference Presentation Abstracts

A 32-year-old male presented for evaluation of right knee pain.

Standardizing Naturalistic Teaching Opportunities For Problem-Based Learning In Diabetes Education: A Quality Improvement Project, Austin Mccaslin

DNP Projects

Significance and Background:

Poor diabetes management is linked to serious long and short-term health complications. Despite this, medication adherence is a significant problem in adolescents with type 1 diabetes. Management is further complicated by low socioeconomic status, even when mitigated by free healthcare, highlighting health literacy as a culprit of disparities. Evidence shows that a common barrier for adolescents is proficiency in dose determination. Carbohydrate counting is an integral skill, necessary for attaining glycemic control. At a homecare agency serving adolescents with poorly controlled diabetes by providing oversight of medication administration and education, it was noted that patients continued to …

A Comprehensive Review On The Risk Of Metabolic Syndrome And Cardiovascular Disease After Liver Transplantation, Kashyap Chauhan, Adnan Khan, Salil Chowdhury, Heather Ross, Natali Salinas, Dina Halegoua-De Marzio

Division of Internal Medicine Faculty Papers & Presentations

Survival rates after liver transplantation have increased dramatically over the past 20 years. Cardiovascular disease is the most common extra-hepatic cause of mortality in the long-term post liver transplant. This is intimately linked with both the higher pre-existing rates of metabolic syndrome in these patients as well as increased propensity to develop de novo metabolic syndrome post-transplant. This unfavorable metabolic profile that contributes to cardiovascular disease is multifactorial and largely preventable. This review explores metabolic syndrome and cardiovascular disease and their contributory factors post liver transplantation to highlight areas for potential intervention and thus reduce the significant morbidity and mortality …

The Efficacy And Safety Of Roxadustat For The Treatment Of Anemia In Non-Dialysis Dependent Chronic Kidney Disease Patients: An Updated Systematic Review And Meta-Analysis Of Randomized Clinical Trials, Basel Abdelazeem, Joseph Shehata, Kirellos Said Abbas, Nahla Ahmed El-Shahat, Bilal Malik, Pramod Savarapu, Mostafa Eltobgy, Arvind Kunadi

School of Medicine Faculty Publications

Background Roxadustat (ROX) is a new medication for anemia as a complication of chronic kidney disease (CKD). Our meta-analysis aims to evaluate the efficacy and safety of ROX, especially on the cardiovascular risks, for anemia in NDD-CKD patients. Methods Electronic databases were searched systematically from inception to July 2021 to look for randomized control trials (RCTs) that evaluated ROX NDD-CKD patients. Hemoglobin level and iron utilization parameters, including ferritin, serum iron, transferrin saturation (TSAT), total iron-binding capacity (TIBC), transferrin, and hepcidin were analyzed for efficacy. Pooled risk ratios (RRs) and standardized mean differences (SMDs) were calculated and presented with their …