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2021

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Full-Text Articles in Medicine and Health Sciences

Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali Dec 2021

Bile Acid Profiling Reveals Distinct Signatures In Undernourished Children With Environmental Enteric Dysfunction, Xueheng Zhao, Kenneth D R. Setchell, Rong Huang, Indika Mallawaarachchi, Lubaina Ehsan, Edward Dobrzykowski Iii, Junfang Zhao, Sana Syed, Najeeha Talat Iqbal, Junaid Iqbal, Kamran Sadiq, Sheraz Ahmed, Syed Asad Ali

Department of Paediatrics and Child Health

Background: Intestinal inflammation and malabsorption in environmental enteric dysfunction (EED) are associated with early childhood growth faltering in impoverished settings worldwide.
Objectives: The goal of this study was to identify candidate biomarkers associated with inflammation, EED histology, and as predictors of later growth outcomes by focusing on the liver-gut axis by investigating the bile acid metabolome.
Methods: Undernourished rural Pakistani infants (n = 365) with weight-for-height Z score (WHZ) < -2 were followed up to the age of 24 mo and monitored for growth, infections, and EED. Well-nourished local children (n = 51) were controls, based on consistent WHZ > 0 and height-for-age Z score (HAZ) > -1 on 2 consecutive visits at 3 and 6 mo. Serum bile acid (sBA) profiles were measured by tandem MS at the ages of 3-6 …


Using The Behaviour Change Wheel Program Planning Model To Design Games For Health: Development Study, Michael C Robertson, Tom Baranowski, Debbe Thompson, Karen M Basen-Engquist, Maria Chang Swartz, Elizabeth J Lyons Dec 2021

Using The Behaviour Change Wheel Program Planning Model To Design Games For Health: Development Study, Michael C Robertson, Tom Baranowski, Debbe Thompson, Karen M Basen-Engquist, Maria Chang Swartz, Elizabeth J Lyons

Faculty, Staff and Students Publications

BACKGROUND: Games for health are a promising approach to health promotion. Their success depends on achieving both experiential (game) and instrumental (health) objectives. There is little to guide game for health (G4H) designers in integrating the science of behavior change with the art of game design.

OBJECTIVE: The aim of this study is to extend the Behaviour Change Wheel program planning model to develop Challenges for Healthy Aging: Leveraging Limits for Engaging Networked Game-Based Exercise (CHALLENGE), a G4H centered on increasing physical activity in insufficiently active older women.

METHODS: We present and apply the G4H Mechanics, Experiences, and Change (MECHA) …


A Case Study Of Pregnant Migrants In Detention, Abby Wheatley, Samantha Nabaty Dec 2021

A Case Study Of Pregnant Migrants In Detention, Abby Wheatley, Samantha Nabaty

Biennial Conference: The Social Practice of Human Rights

No abstract provided.


A Better Way, Gerry Boyle Dec 2021

A Better Way, Gerry Boyle

Colby Magazine

Alane O’Connor ’96 studied environmental economics at Colby. Associate Professor of Statistics Liam O’Brien first studied physics and mathematics.Together the pair has combined their broad experience to produce groundbreaking research that is changing the way clinicians around the world treat pregnant and opioid-addicted women and their unborn children.


Medical School Watercooler Newsletter - December 2, 2021, Lindsey Lyle Dec 2021

Medical School Watercooler Newsletter - December 2, 2021, Lindsey Lyle

Watercooler Newsletter

This is the December 2, 2021 edition of the Frederick P. Whiddon College of Medicine's newsletter - Watercooler.

Contents include:

  • Volunteer opportunity: pediatric health camp on Saturday, Dec.4
  • Pathologist discusses cancer molecular profiling at national meeting
  • Medical students collect 60 gift boxes for children in need
  • Meet a Med Student: Brenna Katz
  • Faculty Spotlight: Tyler McDonald, M.D.


Systematic Review Of Pathways To Care In The U.S. For Black Individuals With Early Psychosis, Oladunni Oluwoye, Beshaun Davis, Franchesca S. Kuhney, Deidre M. Anglin Dec 2021

Systematic Review Of Pathways To Care In The U.S. For Black Individuals With Early Psychosis, Oladunni Oluwoye, Beshaun Davis, Franchesca S. Kuhney, Deidre M. Anglin

Publications and Research

The pathway to receiving specialty care for first episode psychosis (FEP) among Black youth in the US has received little attention despite documented challenges that negatively impact engagement in care and clinical outcomes. We conducted a systematic review of US-based research, reporting findings related to the pathway experiences of Black individuals with FEP and their family members. A systematic search of PubMed, PsycInfo, and Embase/Medline was performed with no date restrictions up to April 2021. Included studies had samples with at least 75% Black individuals and/or their family members or explicitly examined racial differences. Of the 80 abstracts screened, 28 …


2021-12-02_Michiganoverview_Misc, Michigan Department Of Health & Human Services Dec 2021

2021-12-02_Michiganoverview_Misc, Michigan Department Of Health & Human Services

Michigan COVID-19 MIS-C Data

The MIS-C Data page was obtained from Michigan's COVID-19 data page: https://www.michigan.gov/coronavirus/0,9753,7-406-98163_98173_104661---,00.html.

This report is created by the Michigan Department of Health & Human Services from data self-reported by health care providers and local health departments. Data is updated on the first and third Thursdays of the month.

Multisystem Inflammatory Syndrome in Children (MIS-C) is a condition in children and adolescents under 21 years of age where multiple organ systems become inflamed or dysfunctional which occurs in association with illness. Children with MIS-C may have a fever and various symptoms, including abdominal (gut) pain, vomiting, diarrhea, neck pain, rash, …


Coronavirus Update 12-2-21, The Coronavirus Planning Team Dec 2021

Coronavirus Update 12-2-21, The Coronavirus Planning Team

University Briefings & Virtual Events

By now, we are sure you have heard about the omicron variant of the coronavirus. It originated in South Africa or Europe, and the first U.S. case has been identified in California.


A Dystrophin Exon‐52 Deleted Miniature Pig Model Of Duchenne Muscular Dystrophy And Evaluation Of Exon Skipping, Yusuke Echigoya, Nhu Trieu, William Duddy, Hong M. Moulton, Haifang Yin, Terence A. Partridge, Eric P. Hoffman, Joe N. Kornegay, Frank A. Rohret, Christopher S. Rogers, Toshifumi Yokota Dec 2021

A Dystrophin Exon‐52 Deleted Miniature Pig Model Of Duchenne Muscular Dystrophy And Evaluation Of Exon Skipping, Yusuke Echigoya, Nhu Trieu, William Duddy, Hong M. Moulton, Haifang Yin, Terence A. Partridge, Eric P. Hoffman, Joe N. Kornegay, Frank A. Rohret, Christopher S. Rogers, Toshifumi Yokota

Genomics and Precision Medicine Faculty Publications

No abstract provided.


Sports Bra Preferences By Age And Impact Of Breast Size On Physical Activity Among American Females, Katherine H. Rizzone, Bianca Edison, Nailah Coleman, Cordelia Carter, Ingrid Ichesco, Paige Cassidy, Jane Chung, Courtney Marie Cora Jones Dec 2021

Sports Bra Preferences By Age And Impact Of Breast Size On Physical Activity Among American Females, Katherine H. Rizzone, Bianca Edison, Nailah Coleman, Cordelia Carter, Ingrid Ichesco, Paige Cassidy, Jane Chung, Courtney Marie Cora Jones

Pediatrics Faculty Publications

No abstract provided.


Targeting Oncogenic Gαq/11 In Uveal Melanoma, Dominic Lapadula, Jeffrey L Benovic Dec 2021

Targeting Oncogenic Gαq/11 In Uveal Melanoma, Dominic Lapadula, Jeffrey L Benovic

Department of Biochemistry and Molecular Biology Faculty Papers

Uveal melanoma is the most common intraocular cancer in adults and arises from the transformation of melanocytes in the uveal tract. While treatment of the primary tumor is often effective, 36–50% of patients develop metastatic disease primarily to the liver. While various strategies have been used to treat the metastatic disease, there remain no effective treatments that improve survival. Significant insight has been gained into the pathways that are altered in uveal melanoma, with mutually exclusive activating mutations in the GNAQ and GNA11 genes being found in over 90% of patients. These genes encode the alpha subunits of the hetetrotrimeric …


Changing Perceptions Of Rural Frontline Workers And Caregivers About Management Of Childhood Diarrhea And Pneumonia Despite Several Inequities: The Nigraan Plus Trial In Pakistan, Fauziah Rabbani, Hyder Ali Khan, Suneel Piryani, Nousheen Pradhan, Natasha Shaukat, Anam Shahil Feroz, Shagufta Perveen Dec 2021

Changing Perceptions Of Rural Frontline Workers And Caregivers About Management Of Childhood Diarrhea And Pneumonia Despite Several Inequities: The Nigraan Plus Trial In Pakistan, Fauziah Rabbani, Hyder Ali Khan, Suneel Piryani, Nousheen Pradhan, Natasha Shaukat, Anam Shahil Feroz, Shagufta Perveen

Community Health Sciences

Purpose: Diarrhea and pneumonia greatly contribute to high childhood mortality in Pakistan. Frontline community health workers or the Lady Health Workers (LHWs) provide care at the doorstep of over 60% of Pakistan's rural residents. Difficult terrain, lack of supplies, and inadequate supervision put these LHWs at an added disadvantage in the timely diagnosis and delivery of known treatment options to community caregivers (CCGs). This study aims to assess whether a supportive supervision intervention through Lady Health Supervisors (LHSs) using enhanced mentorship and written feedback cards have the potential to improve case management of childhood diarrhea and pneumonia.
Study setting and …


Transforming Prescription Opioid Practices In Primary Care With Change Theory, Rob E. Carpenter, Dave Silberman, Jody Takemoto Dec 2021

Transforming Prescription Opioid Practices In Primary Care With Change Theory, Rob E. Carpenter, Dave Silberman, Jody Takemoto

Human Resource Development Faculty Publications and Presentations

The opioid epidemic continues to be an ongoing public health crisis. Many primary health care providers aptly serve as the gate keeper to opioid prescriptions. The opioid epidemic has challenged the primary care profession whilst many of these providers have opted out of opioid prescribing altogether. This unintended consequence affirms erosion to primary care that is vital to the ecosystem of opioid management. The purpose of this study was to understand strategies to deliver opioids safely and effectively. Results indicate primary care providers are uniquely positioned to make a positive opioid impact through focused change initiatives. Five common themes arose …


The Transition To Peer Learning, C. G. Roth, H. V. Naringrekar, A. E. Flanders Dec 2021

The Transition To Peer Learning, C. G. Roth, H. V. Naringrekar, A. E. Flanders

Department of Radiology Posters

Problem Description: Historically, peer review has been compelled by regulatory and legislative mandates, such as the Joint Commission Ongoing Professional Practice Evaluation (OPPE) requirement and the Health Care Quality Improvement Act (HCQIA) enacted by Congress in 1986. [1] However, these external mandates were focused on quality assurance, generally carrying punitive connotations and practically translated into rote compliance without the benefit of learning and improvement. In fact, the lack of quality improvement focus prompted the Institute of Medicine (IOM) to release its 2015 report, “Improving Diagnosis in Health Care,” stating that a “critical type of error in health care—diagnostic error—has received …


The Need For Change In Mental Health, Autumn R. Lambert Dec 2021

The Need For Change In Mental Health, Autumn R. Lambert

MSN Capstone Projects

In order to properly provide care for patients presenting to the emergency room with exacerbations of mental illness, appropriate education should be provided. Holistic care that has been taught to all healthcare professionals should also be practiced at all times. With the appropriate care being provided, healthcare for patients suffering with a mental illness can find healing care that is free of discrimination and bias.


Comparative Analysis Of 3d Printed Denture Resins With Traditional Denture Materials At The Micro Level, Aneeza Hussain, Caleb Beckwith, Gaffar Gailani Dec 2021

Comparative Analysis Of 3d Printed Denture Resins With Traditional Denture Materials At The Micro Level, Aneeza Hussain, Caleb Beckwith, Gaffar Gailani

Publications and Research

The aim of this experiment was to evaluate and identify compression strength between traditionally manufactured acrylic dentures and additive manufacturing resin dentures. Specifically, the dentures produced by Uhler Dental, its Reveal line were compared against samples produced on the Formlabs Form 2 SLA, Stereolithography, 3D printer using their Denture Teeth A2 resin to test compression strength to assure they are compatible with the occlusal forces in the oral cavity. Using the ZwickRoell tensile testing machine, it appeared that the acrylic dentures were half as strong as the resin dentures. Then we went ahead to and did a comparative analysis under …


Steviol Represses Glucose Metabolism And Translation Initiation In Pancreatic Cancer Cells, Sonam Kumari, Mohammed Sikander, Shabnam Malik, Manish Tripathi, Bilal B. Hafeez, Murali M. Yallapu, Subhash C. Chauhan, Sheema Khan, Meena Jaggi Dec 2021

Steviol Represses Glucose Metabolism And Translation Initiation In Pancreatic Cancer Cells, Sonam Kumari, Mohammed Sikander, Shabnam Malik, Manish Tripathi, Bilal B. Hafeez, Murali M. Yallapu, Subhash C. Chauhan, Sheema Khan, Meena Jaggi

School of Medicine Publications

Pancreatic cancer has the worst prognosis and lowest survival rate among all cancers. Pancreatic cancer cells are highly metabolically active and typically reprogrammed for aberrant glucose metabolism; thus they respond poorly to therapeutic modalities. It is highly imperative to understand mechanisms that are responsible for high glucose metabolism and identify natural/synthetic agents that can repress glucose metabolic machinery in pancreatic cancer cells, to improve the therapeutic outcomes/management of pancreatic cancer patients. We have identified a glycoside, steviol that effectively represses glucose consumption in pancreatic cancer cells via the inhibition of the translation initiation machinery of the molecular components. Herein, we …


Association Between Sex And Immune Checkpoint Inhibitor Outcomes For Patients With Melanoma., Se Ryeong Jang, Nikita Nikita, Joshua Banks, Scott W. Keith, Jennifer M. Johnson, Melissa Wilson, Grace Lu-Yao Dec 2021

Association Between Sex And Immune Checkpoint Inhibitor Outcomes For Patients With Melanoma., Se Ryeong Jang, Nikita Nikita, Joshua Banks, Scott W. Keith, Jennifer M. Johnson, Melissa Wilson, Grace Lu-Yao

Kimmel Cancer Center Faculty Papers

Importance: Immune checkpoint inhibitors (ICIs) have revolutionized melanoma treatment and are now standard of care. Although sex is associated with immune function and immune-related diseases, the interaction between sex and ICIs is understudied.

Objective: To examine whether cancer immunotherapy effectiveness varies between female and male patients with advanced melanoma treated with either nivolumab plus ipilimumab combination therapy or anti-programmed cell death protein 1 (PD-1) therapy (namely, pembrolizumab or nivolumab).

Design, Setting, and Participants: The study population consisted of 1369 older adults (aged ≥65 years) with a record of melanoma diagnosis from January 1, 1991, to December 31, 2015, in the …


Digital Stress Management In Cancer: Testing Stressproffen In A 12-Month Randomized Controlled Trial, Elin Børøsund, Shawna L. Ehlers, Matthew M. Clark, Michael A. Andrykowski, Milada Cvancarova Småstuen, Lise Solberg Nes Dec 2021

Digital Stress Management In Cancer: Testing Stressproffen In A 12-Month Randomized Controlled Trial, Elin Børøsund, Shawna L. Ehlers, Matthew M. Clark, Michael A. Andrykowski, Milada Cvancarova Småstuen, Lise Solberg Nes

Behavioral Science Faculty Publications

BACKGROUND: Cognitive-behavioral stress management interventions are associated with improved psychological well-being for cancer survivors. The availability of, access to, and outreach of these in-person interventions are limited, however. The current study, therefore, evaluated the efficacy of StressProffen, a digital application (app)-based stress management intervention for cancer survivors, in a 12-month randomized controlled trial.

METHODS: Cancer survivors 1 year or less after their treatment (N = 172) were randomized to the StressProffen intervention (n = 84) or a usual-care control group (n = 88). The intervention was delivered in a simple blended care model: 1) 1 in-person introduction session, 2) 10 …


The Evolution Of Blood Flow Restricted Exercise, Eduardo D. S. Freitas, Murat Karabulut, Michael G. Bemben Dec 2021

The Evolution Of Blood Flow Restricted Exercise, Eduardo D. S. Freitas, Murat Karabulut, Michael G. Bemben

Health & Human Performance Faculty Publications

The use of blood flow restricted (BFR) exercise has become an accepted alternative approach to improve skeletal muscle mass and function and improve cardiovascular function in individuals that are not able to or do not wish to use traditional exercise protocols that rely on heavy loads and high training volumes. BFR exercise involves the reduction of blood flow to working skeletal muscle by applying a flexible cuff to the most proximal portions of a person's arms or legs that results in decreased arterial flow to the exercising muscle and occluded venous return back to the central circulation. Safety concerns, especially …


Assessing Acceptability Of Covid-19 Vaccine Booster Dose Among Adult Americans: A Cross-Sectional Study, Tesfaye Yadete, Kavita Batra, Dale M. Netski, Sabrina Antonio, Michael J. Patros, Johan C. Bester Dec 2021

Assessing Acceptability Of Covid-19 Vaccine Booster Dose Among Adult Americans: A Cross-Sectional Study, Tesfaye Yadete, Kavita Batra, Dale M. Netski, Sabrina Antonio, Michael J. Patros, Johan C. Bester

School of Medicine Faculty Research

Given the emergence of breakthrough infections, new variants, and concerns of waning immunity from the primary COVID-19 vaccines, booster shots emerged as a viable option to shore-up protection against COVID-19. Following the recent authorization of vaccine boosters among vulnerable Americans, this study aims to assess COVID-19 vaccine booster hesitancy and its associated factors in a nationally representative sample. A web-based 48-item psychometric valid survey was used to measure vaccine literacy, vaccine confidence, trust, and general attitudes towards vaccines. Data were analyzed through Chi-square (with a post hoc contingency table analysis) and independent-sample t-/Welch tests. Among 2138 participants, nearly 62% intended …


Reduced Risk Of Reoperations With Modern Deep Brain Stimulator Systems: Big Data Analysis From A United States Claims Database, Chengyuan Wu, Sean J Nagel, Rahul Agarwal, Monika Pötter-Nerger, Wolfgang Hamel, Ashwini Sharan, Allison T Connolly, Binith Cheeran, Paul S Larson Dec 2021

Reduced Risk Of Reoperations With Modern Deep Brain Stimulator Systems: Big Data Analysis From A United States Claims Database, Chengyuan Wu, Sean J Nagel, Rahul Agarwal, Monika Pötter-Nerger, Wolfgang Hamel, Ashwini Sharan, Allison T Connolly, Binith Cheeran, Paul S Larson

Department of Neurosurgery Faculty Papers

Objective: There have been significant improvements in the design and manufacturing of deep brain stimulation (DBS) systems, but no study has considered the impact of modern systems on complications. We sought to compare the relative occurrence of reoperations after de novo implantation of modern and traditional DBS systems in patients with Parkinson's disease (PD) or essential tremor (ET) in the United States.

Design: Retrospective, contemporaneous cohort study.

Setting: Multicenter data from the United States Centers for Medicare and Medicaid Services administrative claims database between 2016 and 2018.

Participants: This population-based sample consisted of 5,998 patients implanted with a DBS system, …


Durable Response To Brentuximab Vedotin Plus Cyclophosphamide, Doxorubicin, And Prednisone (Bv-Chp) In A Patient With Cd30-Positive Ptcl Arising As A Post-Transplant Lymphoproliferative Disorder (Ptld), Jennifer Hong, William T Johnson, Saritha Kartan, Anitha S Gonsalves, Jonathan M. Fenkel, Jerald Z. Gong, Pierluigi Porcu Dec 2021

Durable Response To Brentuximab Vedotin Plus Cyclophosphamide, Doxorubicin, And Prednisone (Bv-Chp) In A Patient With Cd30-Positive Ptcl Arising As A Post-Transplant Lymphoproliferative Disorder (Ptld), Jennifer Hong, William T Johnson, Saritha Kartan, Anitha S Gonsalves, Jonathan M. Fenkel, Jerald Z. Gong, Pierluigi Porcu

Department of Medical Oncology Faculty Papers

T-cell PTLDs are lymphoid proliferations that develop in recipients of SOT or allogeneic HSCT. They carry an extremely poor prognosis with a reported median survival of only 6 months. The infrequency with which they are encountered makes treatment a challenge due to the lack of prospective trials to guide management. The significantly higher risk of morbidity and mortality in T-cell PTLD, compared to B-cell PTLD, underscores the challenge of treating these patients and the need for new therapeutic options. Brentuximab vedotin, an ADC targeting CD30, is FDA-approved in combination with CHP as front-line treatment for patients with CD30 expressing PTCL. …


Analisa Faktor Psikosial Terhadap Gejala Distress Pada Karyawan Perusahaan Geothermal Pt. X, Khairul Fajarudin, Dadan Erwandi Dec 2021

Analisa Faktor Psikosial Terhadap Gejala Distress Pada Karyawan Perusahaan Geothermal Pt. X, Khairul Fajarudin, Dadan Erwandi

National Journal of Occupational Health and Safety

This research investigates and compares various psychosocial factors and social environment factors that can influence to one or several distress symptoms to workers in the geothermal company PT. X. This research is semi-quantitative research with a descriptive design. The research found 10 out of 11 dominant indicators of psychosocial factors perceived by half or more of the respondents, with 5 dominant stress symptoms are headache and dizziness, MSDs, angry, sleep difficulties, and change in appetite. The research suggests the company review the workload and current work capacity, improve work process management, improve communication by the foreign workers, and create a …


Imaging And Treatment Of Posttraumatic Ankle And Hindfoot Osteoarthritis, Tetyana Gorbachova, Yulia V. Melenevsky, L. Daniel Latt, Jennifer S. Weaver, Mihra S. Taljanovic Dec 2021

Imaging And Treatment Of Posttraumatic Ankle And Hindfoot Osteoarthritis, Tetyana Gorbachova, Yulia V. Melenevsky, L. Daniel Latt, Jennifer S. Weaver, Mihra S. Taljanovic

Department of Radiology Faculty Papers

Posttraumatic osteoarthritis of the ankle and hindfoot is a common and frequently debil-itating disorder. 70% to 90% of ankle osteoarthritis is related to prior trauma that encompasses a spectrum of disorders including fractures and ligamentous injuries that either disrupt the articular surface or result in instability of the joint. In addition to clinical evaluation, imaging plays a sub-stantial role in the treatment planning of posttraumatic ankle and hindfoot osteoarthritis. Imaging evaluation must be tailored to specific clinical scenarios and includes weight bearing radiography that utilizes standard and specialty views, computed tomography which can be performed with a standard or a …


How Community Participation In Water And Sanitation Interventions Impacts Human Health, Wash Infrastructure And Service Longevity In Low-Income And Middle-Income Countries: A Realist Review, Sarah Nelson, Dorothy Drabarek, Aaron Jenkins, Joel Negin, Seye Abimbola Dec 2021

How Community Participation In Water And Sanitation Interventions Impacts Human Health, Wash Infrastructure And Service Longevity In Low-Income And Middle-Income Countries: A Realist Review, Sarah Nelson, Dorothy Drabarek, Aaron Jenkins, Joel Negin, Seye Abimbola

Research outputs 2014 to 2021

Objective:

To understand how, and under what circumstances community participation in water and sanitation interventions impacts the availability of safe water and sanitation, a change in health status or behaviour and the longevity of water, sanitation and hygiene (WASH) resources and services.

Design:

Realist review.

Data sources:

PubMed, Web of Science and Scopus databases were used to identify papers from low-income and middle-income countries from 2010 to 2020.

Eligibility criteria for selecting studies:

Criteria were developed for papers to be included. The contribution of each paper was assessed based on its relevance and rigour (eg, can it contribute to context, …


Bi-Allelic Variants In Ogdhl Cause A Neurodevelopmental Spectrum Disease Featuring Epilepsy, Hearing Loss, Visual Impairment, And Ataxia, Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Jung, Elizabeth Bhoj, Pasquale Striano, Kshitij Mankad, Barbara Vona, Sanmati Cuddapah, Anja Wagner, Javeria Raza Alvi, Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Srinitya Gannavarapu, Costanza Lamperti, Andrea Legati, Bibi Nazia Murtaza, Muhammad Shahid Nadeem, Mujaddad Ur Rehman, Kolsoum Saeidi, Vincenzo Salpietro, Sarah Von Spiczak, Abigail Sandoval, Sirous Zeinali, Massimo Zeviani, Adi Reich, Synaps Study Group, University Of Washington Center For Mendelian Genomics, Cholsoon Jang, Ingo Helbig, Tahsin Stefan Barakat, Daniele Ghezzi, Suzanne M Leal, Yvonne Weber, Henry Houlden, Wan Hee Yoon Dec 2021

Bi-Allelic Variants In Ogdhl Cause A Neurodevelopmental Spectrum Disease Featuring Epilepsy, Hearing Loss, Visual Impairment, And Ataxia, Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, Reza Maroofian, Isabelle Schrauwen, Manuela Pendziwiat, Sunhee Jung, Elizabeth Bhoj, Pasquale Striano, Kshitij Mankad, Barbara Vona, Sanmati Cuddapah, Anja Wagner, Javeria Raza Alvi, Elham Davoudi-Dehaghani, Mohammad-Sadegh Fallah, Srinitya Gannavarapu, Costanza Lamperti, Andrea Legati, Bibi Nazia Murtaza, Muhammad Shahid Nadeem, Mujaddad Ur Rehman, Kolsoum Saeidi, Vincenzo Salpietro, Sarah Von Spiczak, Abigail Sandoval, Sirous Zeinali, Massimo Zeviani, Adi Reich, Synaps Study Group, University Of Washington Center For Mendelian Genomics, Cholsoon Jang, Ingo Helbig, Tahsin Stefan Barakat, Daniele Ghezzi, Suzanne M Leal, Yvonne Weber, Henry Houlden, Wan Hee Yoon

Faculty, Staff and Students Publications

The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum. The variants include three homozygous missense variants (p.Pro852Ala, p.Arg244Trp, and p.Arg299Gly), three compound heterozygous single-nucleotide variants (p.Arg673Gln/p.Val488Val, p.Phe734Ser/p.Ala327Val, and p.Trp220Cys/p.Asp491Val), one homozygous frameshift variant (p.Cys553Leufs∗16), and one homozygous stop-gain variant (p.Arg440Ter). To support the …


Ableist Ideologies Stifle Neurodiversity And Hinder Inclusive Education, Marie Adrienne R. Manalili Dec 2021

Ableist Ideologies Stifle Neurodiversity And Hinder Inclusive Education, Marie Adrienne R. Manalili

Ought: The Journal of Autistic Culture

This paper makes the case that ableist ideologies hinder trends towards inclusion on a broader global scale and beyond Anglo-American standpoints, as evidenced by key literature and legislations on inclusive education. I also discuss the issues, challenges, and dilemmas generated by these ableist ideologies in my professional context as an autistic speech-language therapist from the Philippines. I conclude with my reflection on how practitioners can help change the trajectory towards emancipatory inclusive practices that are informed by the neurodiversity paradigm. To respect the preference of the communities and the intersection of identities I represent, this paper uses inclusive identity-first language …


Developing Deep-Learning Methods For Diagnosis And Prognosis Of Pediatric Progressive Diseases Using Modern Imaging Techniques, Mahdieh Shabanian Dec 2021

Developing Deep-Learning Methods For Diagnosis And Prognosis Of Pediatric Progressive Diseases Using Modern Imaging Techniques, Mahdieh Shabanian

Theses and Dissertations (ETD)

Purpose and Rationale. Central nervous system manifestations form a significant burden of disease in young children. There have been efforts to correlate the neurological disease state in tuberous sclerosis complex (TSC) neurological disease state with imaging findings is a standard part of patient care. However, such analysis of neuroimaging is time- and labor-intensive. Automated approaches to these tasks are needed to improve speed, accuracy, and availability. Automated medical image analysis tools based on 3D/2D deep learning algorithms can help improve the quality and consistency of image diagnosis and interpretation for cognitive disorders in infants. We propose to automate neuroimaging analysis …


Lactose Intolerance: The Comic, Natali Chung '22, Apurva Reddy '22 Dec 2021

Lactose Intolerance: The Comic, Natali Chung '22, Apurva Reddy '22

Human Diseases Graphic Novels

No abstract provided.