Digital Commons Network^™

U.S. Cardiovascular Mortality Before And During Covid-19: Cdc Wonder Vs Gbd Comparison, Mirza Ali Baig, Muhammad Umar, Carol Becker, Salim S. Virani, Dmitry Abramov, Xiaoming Jia, Abdul Minhas

Population Health, East Africa

No abstract provided.

New-Onset Cognitive Impairment After Delirium Among Hospitalised Older Ghanaians: A Pilot Study, John-Paul Omuojine, Richard Dei-Asamoa, Caleb Otu-Ansah, Gertrude Aboah, Belinda Opoku, George Amponsah, Stella Afeti, Leah Ratner, Ruth Owusu-Antwi, Cyprian Mostert

Population Health, East Africa

Background Delirium is a potentially modifiable risk factor for dementia. However, post-delirium cognition has hardly been studied in Africa, where the burden of both disorders is rising disproportionately.

Objective We estimated the incidence of new-onset cognitive impairment (NCI) 6 months after hospitalisation with non-stroke delirium among older Ghanaians.

Methods This was a prospective observational pilot study conducted among 60 previously cognitively unimpaired (retrospective proxy assessment) adults aged ≥60 years, hospitalised with non-stroke prevalent delirium in a Tertiary Hospital. Delirium was confirmed and rated using the Confusion Assessment Method (CAM) and Severity Scale (CAM-S) within 24–72 hours of admission and reassessed …

Spatially Dissecting Drivers Of Inter- And Intra-Tumoral Heterogeneity In Kenyan Breast Cancer, Mustapha Abubakar, Shahin Sayed, Hela Koka, Scott Lawrence, Karun Mutreja, Xing Hua, Petra Lenz, Samuel Anyaso-Samuel, Rosemary Kamau, Beryl Ooro

Pathology, East Africa

Despite growing evidence on the impact of intra-tumoral heterogeneity (ITH) in breast cancer (BC), its biological drivers and clinically relevant mitigation strategies remain poorly characterized, particularly in low-resource settings where spatial profiling is rarely applied. To address this gap, we conducted a comprehensive, multiplatform spatial profiling study of BC in a Kenyan population. Using the NanoString GeoMx™ Digital Spatial Profiler, we quantified 44 protein markers across 707 spatially defined, PanCK-segmented Areas of Illumination (AOIs) from 31 tumors. All tumors exhibited measurable ITH, with one-third showing marked heterogeneity. Sixteen patients exhibited two or more intrinsic subtypes within their tumors, three of …

Clinical Document Metadata Extraction: A Scoping Review, Kurt Miller, Qiuhao Lu, William Hersh, Kirk Roberts, Steven Bedrick, Andrew Wen, Hongfang Liu

Faculty, Staff and Student Publications

Objectives: Clinical document metadata, such as document type, structure, author role, medical specialty, and encounter setting, is essential for accurate interpretation of information captured in clinical documents. However, vast documentation heterogeneity and drift over time challenge harmonization of document metadata. Automated extraction methods have emerged to coalesce metadata from disparate practices into target schema. This scoping review aims to catalog research on clinical document metadata extraction, identify methodological trends and applications, and highlight gaps warranting further investigation.

Methods: We followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to identify articles from Ovid …

Sex Differences In The Protective Effect Of Brain Volume: Age Attenuates Protection In Women, Javier Gomez-Farias, Ngoc Mai Le, Joseph N Samaha, Bruna Kfoury, Hussain M Azeem, Ritesh Bajaj, Mahnoor Khalid, Freya Kanakhara, Shikha Tripathi, Shayan Shams, Luca Giancardo, Eunyoung A Lee, Robert W Regenhardt, Louise D Mccullough, Sunil A Sheth

Faculty, Staff and Student Publications

Background: Sex differences in outcomes after acute ischemic stroke are well recognized, but mechanisms remain unclear. This study evaluates whether parenchymal brain volume (PBV), age, and final infarct volume explain sex-specific differences in poststroke disability.

Methods: We analyzed a prospectively collected multicenter registry of acute ischemic stroke patients treated between 2015 and 2024. Automated pipelines quantified PBV from noncontrast computed tomography and diffusion-weighted imaging-derived final infarct volume from 24- to 48-hour magnetic resonance imaging. With the primary outcome being 90-day functional independence (modified Rankin Scale score 0-2), sex-stratified logistic regression models evaluated its association with PBV. Stratified logistic and linear …

Risk Factors And Implications Of The Unplanned Shunt In Carotid Endarterectomy, Luisa Trujillo-Guerrero, Camilo Ramírez-Giraldo, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Margaret L Jackson, Shah-Jahan Dodwad, S Keisin Wang

Faculty, Staff and Student Publications

Background: The implications of intraoperative shunting during carotid endarterectomy (CEA) have been studied often with variable recommendations. While some surgeons favor routine shunting to minimize cerebral hypoperfusion, others reserve shunting based on intraoperative monitoring or high-risk clinical features. Predictors of shunt need not remain poorly defined. This study aimed to identify risk factors associated with overall shunt use and unplanned shunting in patients undergoing CEA.

Methods: We performed a retrospective review of a prospectively maintained large academic United States-based health system carotid surgery database between December 2004 and June 2024. Patients were stratified into two groups: procedures performed in absence …

Does Antibiotic Therapy Affect Multiplex Pcr Results In Community-Acquired Bacterial Meningitis?, Caroline Reckart, Elizabeth Aguilera, Audrey Wanger, Rafael Bravo-Santos, Rodrigo Hasbun

Faculty, Staff and Student Publications

No abstract provided.

Medadl: High-Throughput Information Extraction Of Functional Status From Electronic Health Records To Advance Frailty Assessment In Older Adults, Sunyang Fu, Zhiyi Yue, Jennyly T Nguyen, Huipeng Liu, Jaerong Ahn, Vanessa Ramirez, Jude Des Bordes, Hongfang Liu, Min Ji Kwak, Nahid J Rianon

Faculty, Staff and Student Publications

Background: Functional status is essential for assessing frailty and planning care in older adults but is often under-documented in the structured fields of electronic health records. Manual chart review can capture functional status information but is labor-intensive and time-consuming. In this study, we developed and validated a scalable natural language processing (NLP) model to extract functional status information from unstructured electronic health record (EHR) notes.

Methods: This retrospective cohort study included 110 older adults seen at a geriatric osteoporosis clinic. A large language model-augmented symbolic NLP pipeline (MedADL) was developed to extract activities of daily living (ADL) and instrumental activities …

Implementation And Evaluation Of The Owll Intervention To Improve The Quality And Safety Of Pediatric Dental Sedation: A Mixed-Methods Approach, Kawtar Zouaidi, Jan Yeager, Sayali Tungare, Suhasini Bangar, Janelle Urata, Alfa-Ibrahim Yansane, Jungsoo Kim, Emily Sedlock, Krishna K Kookal, Yan Xiao, Oluwabunmi Tokede, Heiko Spallek, Amy Franklin, Gregory Olson, Joel White, Elsbeth Kalenderian, Muhammad F Walji

Faculty, Staff and Student Publications

Background: The OWLL (Open-Wide Learning Lab) intervention was developed using Human-Centered Design to improve the quality and safety of pediatric dental sedation. The intervention includes a patient-facing informational sedation brochure and video, and an enhanced set of clinical sedation records. Here, we report on the process evaluation 6 months after implementation in daily clinical practice.

Methods: This study was conducted at the outpatient pediatric dental clinics of 2 large US academic dental institutions. We used a mixed-methods design to assess the fidelity, acceptability, appropriateness, and feasibility of the OWLL intervention. Quantitative data were gathered through chart reviews, while qualitative data …

Factors Associated With Pre-Donation Health-Related Quality-Of-Life Among Pediatric Sibling Hematopoietic Cell Donors: A Donorkids Ql Study., Galen E. Switzer, Jessica G. Bruce, Bronwen E. Shaw, Vidya Kuniyil, James W. Varni, Brandan J. Butler, Connor Erickson, Alisha Mussetter, Allison Neutzling, Hisham Abdel-Azim, Paibel Aguayo-Hiraldo, Eric J. Anderson, Victor M. Aquino, Karlie Boone, Farid Boulad, Joseph H. Chewning, Jessica Cooper, Ann Dahlberg, Christopher C. Dvorak, Jorge Galvez-Silva, Ann E. Haight, Jennifer A. Hoag, Michelle Hudspeth, David Jacobsohn, Kimberly A. Kasow, Carrie L. Kitko, Lakshmanan Krishnamurti, Lisa Madden, Holly K. Miller, Erin Morales, Timothy S. Olson, Anna B. Pawlowska, Vinod K. Prasad, Troy C. Quigg, Andromachi Scaradavou, Niketa C. Shah, Shalini Shenoy, Nancy Terwilliger, Lori Wiener, Gregory A. Yanik, Lolie C. Yu, Michael A. Pulsipher

Manuscripts, Articles, Book Chapters and Other Papers

Due to limited published data assessing pediatric hematopoietic cell donor experiences, we previously conducted one of the largest quantitative investigations of pediatric donor experiences and health-related quality-of-life (HRQoL) at the time (RDSafe). Findings from RDSafe demonstrated that a subset of pediatric HC donors experienced very poor HRQoL; unfortunately, that dataset addressed only a limited number of factors, and key associations explaining this poor HRQoL were not found. In this study, our goal was to address that deficit by describing pre-donation donor HRQoL in detail and identifying factors across five key domains that were associated with donor HRQoL. We conducted a …

Quality Improvement Project To Reduce Wait Time For Pediatric Gastrointestinal Procedures., Jennifer Colombo, Nicholas Clark, Laura E. Shroyer, Dustin J. Hahn, Jonathan Patterson, Kenneth Sam

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Delays in care can lead to poor health outcomes and suboptimal patient and family experiences. We aimed to reduce the average wait time for gastrointestinal endoscopic procedures (procedure request to procedure completion) from 145 to 15 days (a 90% reduction) within 4 months (November 2023 to March 2024).

METHODS: A3 problem-solving methodology was used. The primary intervention was a multiday, multidisciplinary improvement workshop. Outcome measures included (1) procedure request date to procedure completion date, and (2) favorable patient satisfaction score for timeliness of access to care. Process measures included (1) procedure request date to date procedure scheduled by staff, …

Clinical Ethics Training Needs Among Pediatricians And Pediatric Residents In Ethiopia: Conference-Based Cross-Sectional Survey., Betelehem Kassa, Addishiwot Melesse, Eyob Kebede Etissa, Bitseat W. Haile, Atnafu Mekonnen Tekleab, Stephanie Kukora

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Pediatricians encounter ethically challenging cases in clinical practice throughout the world. In Ethiopia, ethically distressing pediatric cases are heightened by limited resources, lack of ethical frameworks to guide clinical care and withdrawal of supportive therapies, absence of child protection laws, and dearth of trained ethics consultants or institutional ethics committees providing clinical ethics consultation. Ethics training remains limited in undergraduate medical programs and absent in the resident curriculum at most institutions.

METHODS: A survey of Pediatric Residents and Pediatricians attending the Ethiopian Pediatric Society's 24th Annual Conference on March 2023 was conducted using a self-administered, clinical ethics needs assessment. …

The Effects Of Abstinence Status And Sleep Quality On Resting State Alpha Power In Cocaine Use Disorder, Heather E Webber, Danielle A Kessler, Joy M Schmitz, Scott D Lane, Robert Suchting

Faculty, Staff and Student Publications

Rationale

Substance use disorders are associated with notable sleep disturbances. Electroencephalogram (EEG) alpha power occurs during wakeful rest, is associated with sleepiness, and indicates neural deactivation.

Objectives

The goal of the current study was to assess the effects of abstinence on the relationship between alpha power and subjective sleep quality in participants with cocaine use disorder (CUD).

Methods

Participants with CUD (n = 32) who were recently or non-abstinent completed a resting-state EEG paradigm (90 s eyes open/closed). Absolute alpha power was calculated using the fast Fourier transform and by averaging within the power spectra of the alpha band (8–13 …

Relationship Of Early Rapid Weight Loss To Efficacy And Safety Of Tirzepatide And Semaglutide For Obesity: Surmount-5 Post Hoc Analysis, Louis J Aronne, Deborah B Horn, Alexander D Kokkinos, Beverly L Falcon, Hui Wang, Hunter T Hoffmann, Clare J Lee, Julia P Dunn

Faculty, Staff and Student Publications

Background: A knowledge gap remains in how the rate of body weight reduction impacts efficacy and safety of obesity management medications. This SURMOUNT-5 post hoc analysis aimed to define rapid responders and evaluated efficacy and safety of tirzepatide versus. semaglutide in rapid responders versus non-rapid responders.

Methods: Rapid responders and non-rapid responders were defined as participants that obtained ≥ 15% and < 15% body weight reduction by Week 24, respectively. Baseline characteristics, and proportion of participants achieving body weight reduction thresholds by Week 72 were assessed. End-of-study safety and gastrointestinal adverse events measures were summarized.

Results: Overall, 32.3% were rapid responders (tirzepatide: 44%, semaglutide: 21%). The proportions of participants achieving body weight reduction thresholds by Week 72 were higher for rapid responders versus non-rapid responders. Safety trends for tirzepatide and semaglutide were similar between …

A Phase-Ii Randomized Controlled Pilot Study Of Nicotinamide Riboside Supplementation In Older Adults With Amnestic Mild Cognitive Impairment, Christopher Martens, Kevin Decker, Theodore Deconne, Faria Sanjana, Fiona Horvat, Nicholas Rizzi, Catherine Awad, Elizabeth Habash, Joshua Hobson, Mary Kramer, Michael Armstrong, Nichole Reisdorph, Ryan Pohlig, Alyssa Lanzi, Curtis Johnson, Matthew Cohen, James Ellison

Department of Psychiatry and Human Behavior Faculty Papers

INTRODUCTION: Declining nicotinamide adenine dinucleotide (NAD+) may elevate risk of Alzheimer's disease.

METHODS: We conducted a 12-week double-blind, randomized, placebo-controlled pilot study to evaluate the safety, tolerability, and preliminary efficacy of the NAD+ precursor, nicotinamide riboside (NR), for enhancing cognitive function and cerebral blood flow (CBF) in adults with amnestic mild cognitive impairment (aMCI).

RESULTS: 42 participants completed the study (NR = 22, placebo = 20). Adherence was similar between groups with no serious adverse effects. Blood NAD+ increased twofold in the NR group. There were no improvements in cognitive function (primary outcome), total CBF, or blood pressure (secondary outcomes). …

Formal Comment: Diagnostic Labelling Of Mental Health In Young People: Perspectives From Kenya, South Africa And Zimbabwe, Rachel Maina, Marinos Lupindo, Charmaine Nyakonda, Tara Carney, Charity Mamathuba, Christine Musyimi, Charity Somo, Eleanor Chatburn

Brain and Mind Institute

No abstract provided.

Plasma Proteomic Profiles Of Alzheimer's Disease And Neurodegeneration In African Cohorts, Ilaria Pola, Tolulope Akinyemi, Kubra Tan, Oladotun Olalusi, Wiebke Traichel, Giulia Giacomucci, Joseph Yaria, Nesrine Rahmouni, Gabriel Ogunde, Chinedu Momoh

Brain and Mind Institute

Alzheimer’s disease and related dementia (ADRD) represents a growing public health burden, especially in low- and middle-income countries. Yet, most studies focus on Non-Hispanic white (NHW) populations from high-income countries. This study investigates plasma proteomic signatures associated with amyloid pathology in African populations. Nigerian older adults from the VALIANT study and participants from a Tanzanian study, with available biomarker quantification in plasma are employed. For proteomic comparison, participants from the Canadian TRIAD cohort are included, capturing a distinct population. Here, we show that multiple proteins are differentially abundant in the plasma of p-tau217-positive individuals and in the different cognitive groups, …

A Rare Manifestation Of Mycobacterium Kansasii As A Cutaneous Infection: A Case Report, Wandera Carey, Antony Kimani, Zamanali Khakhar, Dheer Kalaiya, Alok Iyer, Sayed Karar

Internal Medicine, East Africa

Nontuberculous mycobacteria (NTM) are environmental organisms increasingly recognized as opportunistic pathogens, particularly in immunocompromised individuals. Mycobacterium kansasii, a slow-growing photochromogen (Runyon group I), is primarily associated with pulmonary disease; however, extrapulmonary and cutaneous manifestations are uncommon and often underdiagnosed. Given the rising incidence of NTM infections, cutaneous disease should be considered in the differential diagnosis of skin lesions, especially in immunocompromised patients. Early microbiological confirmation is crucial for appropriate therapy, as M. kansasii is intrinsically resistant to pyrazinamide. Herein, we present a case of pathologically confirmed cutaneous M. kansasii infection occurring in isolation, illustrating the diagnostic challenges and therapeutic outcomes.

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni Boltz, Benjamin Chu, Matthew Defelice, Calwing Liao, Julia Sealock, Robert Ye, Jacqueline Goldstein, Lerato Majara, Jack Fu, Lukoye Atwoli

Internal Medicine, East Africa

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

School Of Nursing Newsletter Summer 2026, Southern Adventist University

Southern Nursing - School of Nursing Newsletter

The Summer 2026 issue of the newsletter features information on the Hamilton County Homeland Security emergency preparedness event held in April, an update on the Nursing Simulation Center, the spring RHO IOTA induction ceremony, and mission trip experiences.

Antibiotic Administration After Previable Preterm Prelabor Rupture Of Membranes Is Associated With Prolonged Latency, Alexandra L Hammerquist, Alexander M Saucedo, Selina L Bowler, Mohan Pammi, Catherine Eppes, Ignatia Van Den Veyver, Michael D Jochum, Enrico R Barrozo

Duncan NRI Faculty and Staff Publications

Introduction: While antibiotics have been shown to increase the interval to delivery between rupture of membranes and delivery (latency) and improve neonatal outcomes after viable preterm prelabor rupture of membranes (PPROM), this has not been well investigated in the previable PPROM population. We aimed to investigate the association between antenatal antibiotics and latency following previable PPROM. Secondarily, we examined various maternal and neonatal outcomes. We hypothesized that the administration of antibiotics would prolong latency in pregnancies with previable PPROM.

Methods: Single-center retrospective cohort study that included pregnancies diagnosed with previable PPROM between 140/7 and 216/7 and delivered between 2012 and …

Oman Society Of Emergency Medicine Conference 2026, Sultan Qaboos University

Sultan Qaboos University Medical Journal

No abstract provided.

Women & Mental Health: What Utahns Need To Know, Brie Sparks, Susan R. Madsen

Marketing and Strategy Faculty Publications

Mental health shapes how individuals think, feel, cope with stress, and engage in relationships and communities. Mental health concerns have increased nationally and in Utah, influenced by social isolation, economic stress, and lasting effects of the COVID‑19 pandemic. Utah now has one of the highest rates of mental illness in the country, with nearly 29.9% of adults reporting a condition, and women are disproportionately affected. Understanding these patterns and their drivers is essential to improving outcomes for women, families, and communities across the state.

Neonatal Surgical Site Infections: Evaluating Risk Factors And Adherence To Preventive Protocols, Owen N. Ferriola, Allen Huang, Joan C. Bruce, Douglas J. Fox Iii, Nicholas A. Long, Erin M. Morris, Jeannette M. Joly, Carleen Cuevas, Kuojen Tsao

Summer Research Program Abstracts

No abstract provided.

Using The Consolidated Framework For Implementation Research (Cfir) To Evaluate Complex School Settings, Carlie P. Coerver, Tricia A Zucker

Summer Research Program Abstracts

No abstract provided.

Improving Infant Health Equity: What Have We Learned, What Do We Do, Dewayne M Pursley, F Sessions Cole

2020-Current year OA Pubs

The United States neonatal and infant mortality rates have declined substantially over the last six decades. Despite these reductions, significant racial disparities in mortality and other important outcomes have persisted. While increased risk of preterm birth is a major contributor to these differences, racial inequities in risk-adjusted outcomes such as gestational age-specific and major congenital anomaly-associated mortality remain. Race-specific differences in inter- and intra-neonatal intensive care unit (NICU) practices associated with worse outcomes for infants of color suggest opportunities for reducing these disparate health outcomes during and after NICU hospitalization. Identifying NICU-based contributing factors and implementing factor-specific improvement strategies can …

Thromboelastography-Guided Laparoscopic Splenectomy In A Patient With Immune Thrombocytopenia And Recent Drug-Eluting Stent Placement: A Case Report, Josue Gaona, Janki Patel

School of Medicine Student Publications and Presentations

Background

Perioperative management of patients with immune thrombocytopenia (ITP) is particularly challenging when complicated by recent coronary stenting requiring dual antiplatelet therapy (DAPT), due to competing risks of bleeding and thrombosis.

Case Presentation

We report the case of an 80-year-old male with refractory ITP and recent drug-eluting stent placement who underwent elective laparoscopic splenectomy. Although preoperative optimization with corticosteroids and intravenous immunoglobulin increased platelet count from <  20 × 109/L to 177 × 109/L, functional hemostatic adequacy remained uncertain given concurrent ITP and ongoing antiplatelet therapy. Thromboelastography (TEG) was performed using the TEG 6s system with a Global Hemostasis Cartridge. Standard TEG parameters demonstrated preserved clot initiation, formation, and strength across multiple channels, supporting progression to surgery. Laparoscopic splenectomy was completed under general anesthesia without complications or need for transfusion. The patient recovered on the general surgical ward and was discharged on Postoperative Day 3 with a platelet count of 139 × 109/L. Platelet count 2 weeks postoperatively was 343 × 109/L.

Conclusion

This case highlights the utility of TEG as a tool to guide perioperative decision-making in patients with ITP receiving antiplatelet therapy. By providing a functional assessment of coagulation, TEG can help individualize perioperative …

Feasibility Of Using Electronic Medical Records To Identify Postdischarge Mental Health Screening Documentation In Trauma Patients., Kellie Girardot, Julie L Otte

Emergency Medicine and Trauma

BACKGROUND: Injury leads to long-term physical and mental health challenges, yet inpatient screening for post-traumatic stress disorder and depression remains inconsistent, and postdischarge mental health is poorly understood, particularly in less resourced trauma centers where emerging symptoms may go unrecognized.

OBJECTIVE: To evaluate the feasibility of using the electronic medical record to identify postdischarge mental health screening documentation in adult trauma patients within 6 months after discharge.

METHODS: This retrospective descriptive feasibility study was conducted at a midwestern US regional Level II trauma center serving a predominantly rural catchment area. Adult trauma patients admitted between January 1 and December 31, …

Effects Of Blood Brain Barrier Permeability Upon Exposure To Patient Plasma From Traumatic Injury, Mackenna S. Mcgraw

Summer Research Program Abstracts

No abstract provided.

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …