Medicine and Health Sciences Commons^™

A Program Evaluation Of An Integrated Mental Health Model In A Rural Primary Care Clinic, Shelley Rickett

Doctor of Nursing Practice

Background: Mental health issues are not unique to Eastern Montana, in February 2021 there were 44,000 adults in Montana diagnosed with a serious mental illness (NAMI,2021). Access to mental health services in Eastern Montana is challenging due to the number of small rural towns that have a significant distance between them. There is an insufficient number of mental health providers and counselors to cover this large geographical area, significantly impacting access to mental health services. In an attempt to impact mental health access, primary care clinics are integrating these services into an integrated mental health model.

Purpose: The …

Myplate For Healthy Diet And Physical Activity: A Pilot Project, Christin Sullivan

Doctor of Nursing Practice

Background: Over 100 million American adults are obese. This has increased from 38.5% in 2013-2016 to 41.8% in 2017-2020 and is predicted to keep rising. Significant health risks are linked to obesity, prompting weight loss movements at the local, national and global level. Recently, Semaglutide has been favored in weight loss programs but must be augmented by education on healthy diet and physical activity for weight reduction and maintenance.

Purpose: The purpose of this scholarly project was to pilot the MyPlate method on healthy diet and physical activity and determine its effects on patient knowledge of healthy diet and physical …

Weight Loss Remains A Challenge For Idiopathic Intracranial Hypertension Patients: A Retrospective Case Series From Kenya, Zian Muikamba, Jaskirat Sokhi, Jasmit Shah, Sheila Marco, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Background Idiopathic intracranial hypertension (IIH) is a neurological condition characterized by elevated intracranial CSF pressure without demonstratable evident causes. The mechanisms leading to a particular predilection for women of childbearing age who are overweight and obese or who have recent rapid weight changes remain imprecisely described. If undiagnosed, it can progress to disabling irreversible visual loss. Weight loss is useful in addition to medical therapy in treating the condition. There is a rise of obesity in sub-Saharan Africa (SSA) but there is little published on IIH.

Methods We conducted a retrospective cross-sectional study at our tertiary regional referral neurology centre …

To The Editor: In Response To "A Eulogy For The Primary Care Physician"., Leah Parker

Medical Education Articles

No abstract provided.

Hydroxocobalamin For Vasoplegia In Cardiac Surgery: A Retrospective Cohort Analysis, Luai Zakaria, Karan Shah, Dongsheng Yang, Marta Kelava, Haytham Elgharably, Ashish K Khanna, Sanchit Ahuja, Benjamin Hohlfelder, Andrej Alfirevic, Andra E Duncan, Nikolaos J Skubas, Daniel I Sessler

Faculty, Staff and Student Publications

Background: Vasoplegia during cardiac surgery is common and associated with perioperative mortality. Hydroxocobalamin is a catecholamine-sparing approach for treating vasoplegia. However, there is currently limited evidence to inform its use.

Methods: We conducted a single-centre retrospective propensity-matched cohort study of patients who developed vasoplegia after cardiopulmonary bypass. Our primary outcome was vasopressor requirement, expressed as norepinephrine equivalents (NEE), at 1, 4, 24, and 48 h after treatment. Our secondary outcome was a collapsed composite of in-hospital complications comprising stroke, sternal wound infection, mesenteric ischaemia, renal failure, and death.

Results: We identified 2727 (11%) patients with vasoplegia from 2018 to 2024. …

The Effect Of Chronic Azithromycin Use In Winter On Health Care Utilization For Children With Bronchopulmonary Dysplasia: A Double Blind Randomized Controlled Study (Rct), Ricardo A Mosquera, Aravind Yadav, Maria Del Mar Romero-Lopez, Ivan G Magana-Ceballos, S Shahrukh Hashmi, Wilfredo De Jesus Rojas, Maria E Tellez, Kaleigh Riggs-Harpur, Fatima M Boricha, Tina S Reddy, Janice L John, Tomika S Harris, Carlos E Rodriguez-Martinez, Jefferson Buendia, Katrina E Mcbeth, Cindy K Jon, James M Stark, Giuseppe N Colasurdo

Faculty, Staff and Student Publications

Background: Bronchopulmonary dysplasia (BPD), a chronic lung disease in preterm infants, often leads to acute respiratory exacerbations triggered by infections. Our previous mouse study suggested that azithromycin's anti-inflammatory properties may benefit virus-induced respiratory illnesses prophylactically.

Methods: In this single-center, double-blind RCT, 60 children (6 months to 6 years) with BPD received azithromycin (5 mg/kg three times weekly; n = 30) or placebo (n = 30) for one winter season (October to March). Primary outcome was the total number of days of unscheduled healthcare clinic visits, ER visits, and hospital days. Secondary outcomes comprised clinic visits, ER visits, hospital admissions, hospital …

Bone Marrow Endosteum In Homeostasis And Metastasis, Yuta Nakai, Wanida Ono, Noriaki Ono

Faculty, Staff and Student Publications

The endosteum is a thin layer of connective tissue lining the inner surfaces of bones adjoining the medullary cavity. The endosteum houses a variety of cells crucial for bone growth, repair and remodelling, including bone-forming osteoblasts, bone-resorbing osteoclasts and their precursor cells. Historically, the endosteum has been extensively studied as a key site for haematopoiesis by which blood cells are incessantly produced. However, recent studies have defined the endosteum as a niche for skeletal stem cells, underscoring the importance of the harmony between the inner endosteum and the outer periosteum in maintaining bone homeostasis. The endosteum also plays a significant …

Sexual Health Education For Behavior Change: Revisiting How Much Is Enough, Ross Shegog, Elizabeth R Baumler, Robert C Addy, Christine M Markham, Melissa F Peskin, Susan Tortolero Emery, Melanie A Thiel, Shehla Sadruddin, Dennis Reidy, Jeff R Temple

Faculty, Staff and Student Publications

Purpose: Successful implementation of school sexual health curricula relies on students receiving sufficient exposure to lesson content. This large replication study assesses the longitudinal association between exposure to sexual health lesson frequency and content domains and delayed sexual initiation of middle school students.

Methods: Post hoc data analysis was conducted using a large harmonized dataset from 3 randomized controlled trials evaluating It's Your Game curricula in the South Central United States. The sample comprised 1,022 sexually inexperienced middle school students (grades 7 and 8) who completed grade 9 follow-up after using either a 24-lesson hybrid (classroom and computer-based) (It's Your …

Teaching Ai For Radiology Applications: A Multisociety-Recommended Syllabus From The Aapm, Acr, Rsna, And Siim, Felipe Kitamura, Timothy Kline, Daniel Warren, Linda Moy, Roxana Daneshjou, Farhad Maleki, Igor Santos, Judy Gichoya, Walter Wiggins, Brian Bialecki, Kevin O'Donnell, Adam E. Flanders, Matt Morgan, Nabile Safdar, Katherine P. Andriole, Raym Geis, Bibb Allen, Keith Dreyer, Matt Lungren, Monica J. Wood, Marc Kohli, Steve Langer, George Shih, Eduardo Farina, Charles E. Kahn, Ingrid Reiser, Maryellen Giger, Christoph Wald, John Mongan, Tessa Cook, Neil Tenenholtz

Department of Radiology Faculty Papers

No abstract available

Undifferentiated Embryonal Sarcoma Of Liver In A Child : A Case Report, Neha Devendra Bhongale, Sumeet Baheti, Poonam Wade, Omkar Khandkar, Meenakshi Balasbramanian

Digital Journal of Clinical Medicine

Background: Undifferentiated Embryonal Sarcoma of liver (UESL) is a rare malignancy of liver originating from primary mesenchymal tissue with overall poor prognosis. Around 220 pediatric cases of UESL have been reported in the literature. The lack of characteristic clinical manifestations, laboratory tests and imaging studies pose a diagnostic challenge and the preoperative misdiagnosis rate is high. Historically, treatment was limited to surgical resection with poor survival rate. In recent times, combination of chemotherapy and surgical resection has improved survival.

Case Presentation: We report a case of undifferentiated embryonal sarcoma of liver in a 6 years old boy who presented …

The Bulletin: Sidney Kimmel Medical College At Thomas Jefferson University, Volume 103, Issue 2, Fall 2025

The Bulletin (formerly the Jefferson Medical College Alumni Bulletin)

This issue includes:

• 5 - Dean’s Column
• 6 - Time Machine
• 12 - ICYMI (In Case You Missed It)
• 18 - Medicine Rooted in Connection by Scott Orlov, SKMC Class of 2026
• 20 - All in the Family by Takami Sato, MD, PhD, and Rino Seedor, MD ’15
• 24 - When Jefferson and Medicine Struck Gold by Geno J. Merli, MD ’75, RES ’78 and ’80
• 28 - Alumni Weekend Recap
• 32 - Born a Jeffersonian by William Valentine Harrer, MD ’62
• 35 - Class Ambassadors
• 36 - A Message From the SKMC Alumni Board President
• 38 - Class Notes …

Slb-Mssim: A Spectral Library-Based Multiplex Segmented Sim Platform For Single-Cell Proteomic Analysis, Lakmini Senavirathna, Cheng Ma, Van-An Duong, Hong-Yuan Tsai, Ru Chen, Sheng Pan

The Brown Foundation: Institute of Molecular Medicine

Mass spectrometry (MS)-based single-cell proteomics, while highly challenging, offers unique potential for a wide range of applications to interrogate cellular heterogeneity, trajectories, and phenotypes at a functional level. We report here the development of the spectral library-based multiplex segmented selected ion monitoring (SLB-msSIM) method, a conceptually unique approach with significantly enhanced sensitivity and robustness for single-cell analysis. The single-cell MS data is acquired by a multiplex segmented selected ion monitoring (msSIM) technique, which sequentially applies multiple isolation cycles with the quadrupole using a wide isolation window in each cycle to accumulate and store precursor ions in the C-trap for a …

Investigating Machine Learning Algorithms To Classify Label-Free Images Of Pancreatic Neuroendocrine Neoplasms, Noelle Daigle, Shuyuan Guan, Suzann Duan, Thomas G Knapp, Eung-Joo Lee, Ali Azhdarinia, Sukhen C Ghosh, Solmaz Aghaamiri, Servando Hernandez Vargas, Naruhiko Ikoma, Jeannelyn Estrella, Martin J Schnermann, Tobias Else, Michelle Kang Kim, Juanita L Merchant, Travis W Sawyer

The Brown Foundation: Institute of Molecular Medicine

Significance: Pancreatic neuroendocrine neoplasms (PNENs) are an uncommon cancer whose incidence rate has increased dramatically in recent years. Surgery is the only potentially curative treatment, which relies on both preoperative tumor localization and postoperative margin definition using histopathological examination for decision making. If pathology could be automated, valuable time and resources could be saved.

Aim: In this study, we investigate the ability of machine learning (ML) with handcrafted features, as well as deep learning, to classify label-free microscopy images of PNENs as a first step toward automated pathology of such tumors.

Approach: Patient samples of two different preparation types were …

Genome Wide Association Study Of Psychosis Identifies African Enriched Variants In Ptprd And Tmem150c, Lerato Majara, Toni Boltz, Dickens Akena, Solomon Teferra, Symon Kariuki, Charles Newton, Dan Stein, Lukoye Atwoli, Zukiswa Zingela, Bizu Gelaye

Internal Medicine, East Africa

No abstract provided.

Prevalence And Risk Factors Of Hypertension Among Clients Seeking Care At Selected Healthcare Facilities In Kenya, Jasmit Shah, Soraiya Manji, Jamila Nambafu, Cynthia Smith, Anthony Ochola, Linda Barasa, Faraj Amir, Husni Abdalla, Rajiv Patel, Sayed Karar

Internal Medicine, East Africa

Background Hypertension remains one of the primary risk factors for cardiovascular disease and the leading cause of mortality worldwide. According to the World Health Organization (WHO), as estimated 1.28 billion adults suffer from hypertension worldwide and approximately half are unaware of the problem. This study aimed to explore the prevalence of hypertension, and the association of sociodemographic, behavioral, and physiological factors related to hypertension in patients seeking care at the different healthcare facilities in Kenya.

Methodology We carried out a cross-sectional survey study between April 2023 and July 2023. The general adult public visiting the outpatient clinics were recruited from …

Aadej Comm 11 3 2025

AADEJ - The Communicator

The Communicator is the Journal of the American Association of Dental Editors. It is published quarterly and distributed digitally via email to members and posted on the Association’s website aadej.org. This issue of The Communicator features articles focused on organizational strategy, publishing ethics, and critical issues in the profession. The Editor-in-Chief announces his intention to step down, reflecting on the organization's history. The President advocates for shifting the organizational focus from individual benefits to collective sustainability ("What’s in it for us?"). Organizational updates include the restructuring of the Publication Membership to allow three voting members for the same fee and …

What’S In It For Us? Tell A Colleague, Christopher J. Smiley

AADEJ - The Communicator

AADEJ President Dr. Chris Smiley advocates for a reframing of volunteer organizations' focus from "What’s in it for me?" to "What’s in it for us?" to ensure viability. This change is necessary given the declining membership trends in organized dentistry, with the ADA’s market share approaching 50%. The AADEJ, operating with limited resources, concentrates on fundamental, mission-based services that benefit the collective community of dental editors and journalists. These core services include focused continuing education necessary to earn the Certified Dental Editor credential and guidance on ethical issues, such as editor autonomy and the emerging presence of AI. By focusing …

About This Time Of Year!, Denise Maihofer

AADEJ - The Communicator

AADEJ Executive Director Denise Maihofer announces key organizational expansions and updates, starting with thanks to volunteers for the 2025 Conference. The most significant change is the restructuring of the Publication Membership, which, for the same $395 fee, will now include up to three AADEJ voting members on an editorial team. This provides substantial cost savings, equating to a $350 savings compared to previous options. The message confirms that the 2026 Dental Editors University (DEU) will be held at the AAOMS Daniel M. Laskin Institute in Rosemont, Illinois, following highly praised reviews of the 2024 event. Furthermore, AADEJ is beginning its …

It’S Not Elementary, My Dear Ai, Mali Schantz-Feld Ma, Cde

AADEJ - The Communicator

In this issue, Associate Editor Mali Schantz-Feld cautions dental communicators about the irresponsible use of Artificial Intelligence (AI), highlighting three major risks. The first is the fabrication or "hallucination" of non-existent scholarly references, exemplified by submitted articles where more than half of the citations were fake. The second risk is the removal of human personality, emotion, and nuance, which causes content to feel robotic; this occurred when a profile of an inspiring dentist was run through AI, stripping away their inner light and philosophy. The third danger is the generation of statistics, charts, or figures without providing necessary data or …

The Distribution Of The Number Of Mutations In The Genealogy Of A Sample From A Single Population, Yun-Xin Fu

Faculty, Staff and Student Publications

The number K of mutations in the genealogy of a sample of n sequences from a single population is one essential summary statistic in molecular population genetics and is equal to the number of segregating sites in the sample under the infinite-sites model. Although its expectation and variance are the most widely utilized properties, its sampling formula (i.e., probability distribution) is the foundation for all explorations related to K. Despite existence of an analytic sampling formula, its numerical application is limited due to susceptibility to error propagation. This paper presents a new sampling formula for K in a random sample …

Sleep Eeg And Respiratory Biomarkers Of Sudden Unexpected Death In Epilepsy (Sudep): A Case-Control Study, Oman Magana-Tellez, Rama Maganti, Norma J Hupp, Xi Luo, Sandhya Rani, Johnson P Hampson, Manuela Ochoa-Urrea, Sudha S Tallavajhula, Rup K Sainju, Daniel Friedman, Maromi Nei, Brian K Gehlbach, Stephan Schuele, Ronald M Harper, Beate Diehl, Lisa M Bateman, Orrin Devinsky, George B Richerson, Samden D Lhatoo, Nuria Lacuey

Faculty, Staff and Student Publications

Background: Sudden unexpected death in epilepsy (SUDEP) is the most common category of epilepsy-related mortality. Centrally mediated respiratory dysfunction has been observed to lead to death in the majority of cases of SUDEP. SUDEP also mainly occurs during nighttime sleep. This study seeks to identify sleep EEG and sleep-related respiratory biomarkers of SUDEP risk.

Methods: In this case-control study, we compared demographic, clinical, EEG, and respiratory data from people with epilepsy who later died of SUDEP (the SUDEP group) with data from age and sex-matched living people with epilepsy, classified as high risk of SUDEP (with ≥1 generalised tonic-clonic seizure …

Wire-In-Needle Versus Conventional Syringe-On-Needle Technique For Ultrasound-Guided Central Venous Catheter Insertion In The Internal Jugular Vein: The Win Randomized Trial, Kristen K Thomsen, Jovana Stekovic, Felix Köster, Alina Bergholz, Karim Kouz, Moritz Flick, Daniel I Sessler, Christian Zöllner, Bernd Saugel, Leonie Schulte-Uentrop

Faculty, Staff and Student Publications

Purpose: There are different techniques for ultrasound-guided central venous catheter (CVC) insertion. When using the conventional syringe-on-needle technique, the syringe needs to be removed from the needle after venous puncture to pass the guidewire through the needle into the vein. When, alternatively, using the wire-in-needle technique, the needle is preloaded with the guidewire, and the guidewire-after venous puncture-is advanced into the vein under real-time ultrasound guidance. We tested the hypothesis that the wire-in-needle technique reduces the time to successful guidewire insertion in the internal jugular vein compared with the syringe-on-needle technique in adults.

Methods: We randomized 250 patients to the …

Continuous Versus Bolus Norepinephrine Administration And Arterial Blood Pressure Stability During Induction Of General Anaesthesia In High-Risk Noncardiac Surgery Patients: A Randomised Trial, Christina Vokuhl, Karim Kouz, Moritz Flick, Linda Krause, Alina Kröker, Parisa Moll-Khosrawi, Christian Zöllner, Daniel I Sessler, Bernd Saugel, Kristen K Thomsen

Faculty, Staff and Student Publications

Background: Hypotension after induction of general anaesthesia is common in high-risk patients having noncardiac surgery. Anaesthesiologists often give manual boluses of vasopressors repeatedly to maintain blood pressure during induction of general anaesthesia, including the fast-acting vasopressor norepinephrine which has a short half-life. We tested the hypothesis that giving norepinephrine continuously during induction of general anaesthesia, compared with giving it as repeated manual boluses, improves blood pressure stability in high-risk noncardiac surgery patients.

Methods: In this single-centre trial, 72 participants undergoing noncardiac surgery were randomised to continuous norepinephrine infusion or manual bolus norepinephrine administration during induction of general anaesthesia. Blood pressure …

Predictive Gene Expression Signatures For Alzheimer's Disease Using Post-Mortem Brain Tissue, Ashley Duche, Oliver Tan, Andrius Baskys, Rachita K. Sumbria, Moom R. Roosan

Pharmacy Faculty Articles and Research

Background: Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder characterized by amyloid-beta (Aβ) plaques and tau protein aggregates in the brain. These pathological features manifest in specific regions, but mechanisms rendering some areas more susceptible to early AD-related changes remain poorly understood. To address this, we developed predictive gene expression signatures to explore molecular mechanisms underlying regional vulnerability to AD pathology.

Methods: Post-mortem brain tissues from participants of the Religious Orders Study and Memory and Aging Project (ROSMAP), Mayo Clinic, and Mount Sinai Brain Bank (MSBB) were used to derive gene expression signatures from six brain regions affected at varying …

Mitochondrial Haplogroups, But Not Heteroplasmy, Are Associated With Midlife Cognitive Function, Nien Yeh Daphne Yu, Shea J Andrews, Lifang Hou, Myriam Fornage, Kristine Yaffe

Faculty, Staff and Student Publications

Introduction: Mitochondrial DNA (mtDNA) variation may influence cognitive performance, but prior findings are inconsistent.

Methods: We analyzed data from 2308 participants in the Coronary Artery Risk Development in Young Adults (CARDIA) study, assessing heteroplasmy (mtHz) burden and haplogroups (mtHg) from blood-derived mtDNA at three timepoints and cognitive function across multiple domains. Multivariate linear regression models and multivariate linear mixed models adjusted for age, sex, education, and race.

Results: MtDNA heteroplasmy burden and count were not associated with cognitive performance. However, mtHgs in macro-mtHg L were linked to poorer cognitive outcomes, particularly in processing speed and global cognition in cross-sectional and …

Disentangling Unobserved Heterogeneity: Novel Application Of A Statistical Method To Evaluate A Multilevel Healthcare Intervention For Hispanic Individuals Living On The United States-Mexico Border With Comorbid Diabetes And Hypertension, Minjae Lee, Juliana Z Lopez, Natalia I Heredia, Maria Zolezzi, Soo Kyung Park, Paul G Yeh, Lisa Mitchell-Bennett, Belinda M Reininger

Faculty, Staff and Student Publications

Objective: Individuals with diabetes and hypertension represent a high-risk population with poor prognosis and high healthcare costs. Clinicians recognize the complexities of treating patients with multiple chronic conditions; however, the research literature shows little attention to characterizing change patterns in hypertension outcomes for participants of health interventions. The aim of this study was to characterize individual-level longitudinal trajectories of heterogeneity in blood pressure among a Hispanic population with uncontrolled type II diabetes and hypertension enrolled in a multi-level intervention.

Methods: This study was implemented along the US-Mexico border. Using blood pressure results collected longitudinally between 2013 and 2020 from 2476 …

Development And Feasibility Testing Of An Implementation Evaluation Tool: Recommendations From The Managing Epilepsy Well (Mew) Network Research Collaborative, Martha Sajatovic, Ross Shegog, Elaine Kiriakopoulos, Clara Adeniyi, Jessie Black, Barbara C Jobst, Erica K Johnson, Robin Mcgee, Tanya M Spruill, Cam Escoffery

Faculty, Staff and Student Publications

Aims: The Managing Epilepsy Well (MEW) Network has led the development, testing and scale-up of epilepsy self-management (ESM). The MEW Integrated Database (MEW DB) is a pooled repository of archival studies that facilitates aggregate analysis. This report describes an implementation evaluation tool for ESM adopters.

Methods: Publicly available materials on program implementation, adoption and sustainability as well as readiness surveys used by the MEW Network were reviewed, as were content domains and format styles relevant to ESM implementation. Requirements for data Tiers included: 1) survey Tier should be short (≤6 items) and completed quickly (< 3 min), 2) question and response format should be consistent, 3) data elements are relevant to ESM adopters and 4) the tool should be applicable across ESM programs. Iterative review, discussion and item-ranking yielded a final set of 3 distinct data element Tiers.

Results: Implementation data elements assess …

Engaging And Empowering Future Female Surgeons: Development Of The Medical Student Section Of The Society Of Women In Urology, Allison G Booher, Sasha J Vereecken, Erin Kim, Neharika Penmatcha, Alexandra Aponte, Eman N Chaudhri, Meghana Noonavath, Ibukunoluwa Omole, Joanna Orzel, Leigh Martin, Gina Demeo, Tyler L Overholt, Akanksha Mehta

Faculty, Staff and Student Publications

Objective: To describe a replicable model for a large-scale, cross-institutional, and student-driven initiative to promote gender equity within surgical fields.

Methods: To address the lack of a national infrastructure to support female medical students pursuing careers in Urology, a historically male-dominated specialty, the society of women in urology (SWIU) established its medical student section, called SWIUdents, as a student-led initiative to offer mentorship, education, and networking resources for future female urologists. In 2022, SWIUdents convened its first medical student leadership board, comprised of two co-chairs and four subcommittees focused on membership, program implementation, mentorship, and community relations. SWIUdents membership was …

Optimization Of A Mobile Imaging System To Aid In Evaluating Patients With Oral Lesions In A Dental Care Setting, Ruchika Mitbander, Jennifer Carns, Richard A Schwarz, Sean Anderson, Geethanjali Vipulanandan, Miriam Hernandez, Amelia E Hartzell, Jun Jiao, Ilona Rutkowska, Safia Durab, Sahar Sadeghi, Ashlee D Clayton, Nancy Bass, Loganayaki Anandasivam, Rachel A Giese, Ann M Gillenwater, Nadarajah Vigneswaran, Rebecca Richards-Kortum

Faculty, Staff and Student Publications

Significance: Oral cancer is often diagnosed at an advanced stage even though the oral cavity is easily accessible for examination. There is a need for tools to support early detection and help non-expert clinicians make appropriate referral recommendations.

Aim: We aim to evaluate a mobile detection of oral cancer (mDOC) smartphone-based autofluorescence imaging system by collecting data in a representative, low-prevalence population and optimizing a referral algorithm suitable for deployment in community dental settings.

Approach: Data were collected from patients at a community dental clinic using the mDOC system, which captures white light and autofluorescence images. A multi-input deep learning …

Three-Dimensional Human Mucopolysaccharidosis Iva Chondrocyte Culture Reveals Significant Impairments In The Lysosomal-Mitochondrial Crosstalk, Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes. Given the interactions of lysosomes with various intracellular organelles, it is not surprising that lysosomal dysfunction can lead to improper functioning of lysosome-interacting organelles such as mitochondria. Mitochondrial alterations have been evaluated in several LSDs; nevertheless, they have not been fully addressed in MPS IVA. In this study, we assessed the mitochondrial alterations in MPS IVA chondrocytes using a three-dimensional culture approach. Our findings revealed that MPS IVA …