Medicine and Health Sciences Commons^™

Tmem106b Coding Variant Is Protective And Deletion Detrimental In A Mouse Model Of Tauopathy, George A Edwards, Caleb A Wood, Yang He, Quynh Nguyen, Peter J Kim, Ruben Gomez-Gutierrez, Kyung-Won Park, Yong Xu, Cody Zurhellen, Ismael Al-Ramahi, Joanna L Jankowsky

Duncan NRI Faculty and Staff Publications

TMEM106B is a risk modifier of multiple neurological conditions, where a single coding variant and multiple non-coding SNPs influence the balance between susceptibility and resilience. Two key questions that emerge from past work are whether the lone T185S coding variant contributes to protection, and if the presence of TMEM106B is helpful or harmful in the context of disease. Here, we address both questions while expanding the scope of TMEM106B study from TDP-43 to models of tauopathy. We generated knockout mice with constitutive deletion of TMEM106B, alongside knock-in mice encoding the T186S knock-in mutation (equivalent to the human T185S variant), and …

Lateropulsion Resolution And Outcomes Up To One Year Post-Stroke: A Prospective, Longitudinal Cohort Study, Jessica Nolan, Angela Jacques, Erin Godecke, Michael Bynevelt, Ferry Dharsono, Barbara Singer

Research outputs 2022 to 2026

Background: Post-stroke lateropulsion is prevalent and associated with poor rehabilitation outcomes; however, data regarding long-term function associated with lateropulsion are lacking.

Objectives: This study aimed to explore lateropulsion resolution and associations between lateropulsion, functional outcomes, and fall occurrence up to 12 months post-stroke.

Methods: Participants for this prospective, longitudinal cohort study were recruited from a Stroke Rehabilitation Unit (SRU). Assessments were conducted at SRU admission, at discharge, and at three, six, nine, and twelve months post-stroke. Outcomes included the Four-Point Pusher Score (4PPS), Functional Independence Measure (FIM), and fall occurrence. Longitudinal outcomes were modeled using generalized linear mixed-effects models. Results: …

Intouch Week Of March 25, 2024, New York Medical College

InTouch

• 35^th Annual Graduate Student Research Forum Showcases Groundbreaking Research
• NYMC and Regeneron Debut Neighborhood Science Seminar Series
• Orthopedics Research Fellowship Yields Prolific Results for SOM Student
• LCME Elements of the Week
• Tell Us What You Think
• Alumni Spotlight: SLP Alumna Opens Local Private Practice in Honor of Late Sister

03.25.2024 Orsp Connect, Liz Williamson

ORED Newsletter

Cammi Thornton, Compliance Training Requirements

Consensus Pharmacophore Strategy For Identifying Novel Sars-Cov-2 Mpro Inhibitors From Large Chemical Libraries, Angel J Ruiz-Moreno, Raziel Cedillo-González, Luis Cordova-Bahena, Zhiqiang An, José L Medina-Franco, Marco A Velasco-Velázquez

The Brown Foundation: Institute of Molecular Medicine

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) main Protease (Mpro) is an enzyme that cleaves viral polyproteins translated from the viral genome and is critical for viral replication. Mpro is a target for anti-SARS-CoV-2 drug development, and multiple Mpro crystals complexed with competitive inhibitors have been reported. In this study, we aimed to develop an Mpro consensus pharmacophore as a tool to expand the search for inhibitors. We generated a consensus model by aligning and summarizing pharmacophoric points from 152 bioactive conformers of SARS-CoV-2 Mpro inhibitors. Validation against a library of conformers from a subset of ligands showed that …

A Clinical Practice Guideline For The Management Of Patients With Acute Spinal Cord Injury: Recommendations On Hemodynamic Management, Brian K. Kwon, Lindsay A. Tetreault, Allan R. Martin, Paul M. Arnold, Rex A.W. Marco, Virginia F.J Newcombe, Carl M. Zipser, Stephen L. Mckenna, Radha Korupolu, Chris J. Neal, Rajiv Saigal, Nina E. Glass, Sam Douglas, Mario Ganau, Vafa Rahimi-Movaghar, James S. Harrop, Bizhan Aarabi, Jefferson R. Wilson, Nathan Evaniew, Andrea C. Skelly, Michael G. Fehlings

Department of Neurosurgery Faculty Papers

STUDY DESIGN: Clinical practice guideline development following the GRADE process.

OBJECTIVES: Hemodynamic management is one of the only available treatment options that likely improves neurologic outcomes in patients with acute traumatic spinal cord injury (SCI). Augmenting mean arterial pressure (MAP) aims to improve blood perfusion and oxygen delivery to the injured spinal cord in order to minimize secondary ischemic damage to neural tissue. The objective of this guideline was to update the 2013 AANS/CNS recommendations on the hemodynamic management of patients with acute traumatic SCI, acknowledging that much has been published in this area since its publication. Specifically, we sought …

Altered Lipid Metabolism In Apc-Driven Colorectal Cancer: The Potential For Therapeutic Intervention, Courtney O. Kelson, Yekaterina Y. Zaytseva

Markey Cancer Center Faculty Publications

Altered lipid metabolism is a well-recognized feature of solid cancers, including colorectal cancer. In colorectal cancer, upregulation of lipid metabolism contributes to initiation, progression, and metastasis; thus, aberrant lipid metabolism contributes to a poor patient outcome. The inactivating mutation of APC, a vital tumor suppressor in the Wnt signaling pathway, is a key event that occurs early in the majority of colorectal cancer cases. The potential crosstalk between lipid metabolism and APC-driven colorectal cancer is poorly understood. This review collectively highlights and summarizes the limited understanding between mutations in APC and the upregulation of Wnt/beta- catenin signaling and lipid metabolism. …

Dissociating Reading And Auditory Comprehension In Persons With Aphasia, Rachael M. Harrington, Sigfus Kristinsson, Janina Wilmskoetter, Natalie Busby, Dirk B. Den Ouden, Chris Rorden, Julius Fridriksson, Leonardo Bonilha

Communication Sciences and Disorders Faculty Articles and Research

Language comprehension is often affected in individuals with post-stroke aphasia. However, deficits in auditory comprehension are not fully correlated with deficits in reading comprehension and the mechanisms underlying this dissociation remain unclear. This distinction is important for understanding language mechanisms, predicting long-term impairments and future development of treatment interventions. Using comprehensive auditory and reading measures from a large cohort of individuals with aphasia, we evaluated the relationship between aphasia type and reading comprehension impairments, the relationship between auditory versus reading comprehension deficits and the crucial neuroanatomy supporting the dissociation between post-stroke reading and auditory deficits. Scores from the Western Aphasia …

Dopamine Lesions Alter The Striatal Encoding Of Single-Limb Gait, Long Yang, Deepak Singla, Alexander K Wu, Katy A Cross, Sotiris C Masmanidis

Faculty, Staff and Student Publications

The striatum serves an important role in motor control, and neurons in this area encode the body's initiation, cessation, and speed of locomotion. However, it remains unclear whether the same neurons also encode the step-by-step rhythmic motor patterns of individual limbs that characterize gait. By combining high-speed video tracking, electrophysiology, and optogenetic tagging, we found that a sizable population of both D1 and D2 receptor expressing medium spiny projection neurons (MSNs) were phase-locked to the gait cycle of individual limbs in mice. Healthy animals showed balanced limb phase-locking between D1 and D2 MSNs, while dopamine depletion led to stronger phase-locking …

In Silico Analysis Of C-Type Lectins As Co-Infection Receptors Of Dengue And Chikungunya Viruses In Aedes Aegypti, Munawir Sazali, R. C. Hidayat Soesilohadi, Nastiti Wijayanti, Tri Wibawa, Arif Nur Muhammad Ansori

Makara Journal of Science

Aedes aegypti is a primer vector of dengue virus (DENV) and chikungunya virus (CHIKV). The susceptibility of mosquitoes to DENV and CHIKV depends on their recognition receptor of pathogens. C-type lectins (CTLs) are an important mediator of virus infection in A. aegypti. This study aims to identify potential receptors and determine the binding affinity between ligand–receptor interaction, CTLs and virus envelopes (DENV-1, 2, 3, and 4 and CHIKV) interaction based on in silico analysis. Sample sequences were obtained from GenBank (NCBI), and 10 CTLs were acquired from VectorBase. Homology modeling based on a minimum standard of 20% was processed …

Financing Reforms To Meet A Pivotal Moment In Global Health, Kevin A. Klock, Alexandra Finch, Lawrence O. Gostin

Georgetown Law Faculty Publications and Other Works

2024 will be the most important moment for global health since the World Health Organization’s founding in 1948, but only if states give major reforms their full political and financial backing. Bold new commitments in disease surveillance, capacity building, and more equitable access to health products cannot be achieved without ample and sustainable funding. In this essay, we discuss major reforms found in the emerging pandemic agreement and reformed International Health Regulations and then explore the significant challenges and opportunities for financing them.

Advocacy Connection Team-Now Educational Program For Headache Fellows And Patients/Caregivers: Assessment Of Educational Objectives, Courtney Seebadri-White, Hsiangkuo Yuan, William B. Young, Karissa N. Arca

Department of Neurology Faculty Papers

OBJECTIVE: To assess for improvement in comfort in participating in advocacy for migraine and headache disorders and knowledge needed for successful advocacy.

BACKGROUND: The Advocacy Connection Team (ACT)-Now program is an educational program offered through Miles for Migraine, a non-profit advocacy organization. It is designed to teach headache fellows and patients advocacy skills.

METHODS: In a cross-sectional pre-test-post-test design, the 2021 ACT-Now cohort of 98 participants were administered a set of 11 pre-course survey questions identifying their role (healthcare provider/headache fellow or patient/caregiver), baseline knowledge of migraine-related disability and stigma, and baseline engagement and comfort with advocating. The post-course survey …

Identification Of Nonfunctional Alternatively Spliced Isoforms Of Sting In Human Acute Myeloid Leukemia, Akash R Boda, Arthur J Liu, Susana Castro-Pando, Benjamin T Whitfield, Jeffrey J Molldrem, Gheath Al-Atrash, Maria Emilia Di Francesco, Philip Jones, Casey R Ager, Michael A Curran

Faculty, Staff and Student Publications

UNLABELLED: Lack of robust activation of Stimulator of Interferon Genes (STING) pathway and subsequent induction of type I IFN responses is considered a barrier to antitumor immunity in acute myeloid leukemia (AML). Using common human AML cell lines as in vitro tools to evaluate the efficacy of novel STING agonists, we found most AML lines to be poor producers of IFNs upon exposure to extremely potent agonists, suggesting cell-intrinsic suppression of STING signaling may occur. We observed unexpected patterns of response that did not correlate with levels of STING pathway components or of known enzymes associated with resistance. To identify …

Extend The Benchmarking Indel Set By Manual Review Using The Individual Cell Line Sequencing Data From The Sequencing Quality Control 2 (Seqc2) Project, Binsheng Gong, Dan Li, Yifan Zhang, Rebecca Kusko, Samir Lababidi, Zehui Cao, Mingyang Chen, Ning Chen, Qiaochu Chen, Qingwang Chen, Jiacheng Dai, Qiang Gan, Yuechen Gao, Mingkun Guo, Gunjan Hariani, Yujie He, Wanwan Hou, He Jiang, Garima Kushwaha, Jian-Liang Li, Jianying Li, Yulan Li, Liang-Chun Liu, Ruimei Liu, Shiming Liu, Edwin Meriaux, Mengqing Mo, Mathew Moore, Tyler J Moss, Quanne Niu, Ananddeep Patel, Luyao Ren, Nedda F Saremi, Erfei Shang, Jun Shang, Ping Song, Siqi Sun, Brent J Urban, Danke Wang, Shangzi Wang, Zhining Wen, Xiangyi Xiong, Jingcheng Yang, Lihui Yin, Chao Zhang, Ruolan Zhang, Ambica Bhandari, Wanshi Cai, Agda Karina Eterovic, Dalila B Megherbi, Tieliu Shi, Chen Suo, Ying Yu, Yuanting Zheng, Natalia Novoradovskaya, Renee L Sears, Leming Shi, Wendell Jones, Weida Tong, Joshua Xu

Faculty, Staff and Student Publications

Accurate indel calling plays an important role in precision medicine. A benchmarking indel set is essential for thoroughly evaluating the indel calling performance of bioinformatics pipelines. A reference sample with a set of known-positive variants was developed in the FDA-led Sequencing Quality Control Phase 2 (SEQC2) project, but the known indels in the known-positive set were limited. This project sought to provide an enriched set of known indels that would be more translationally relevant by focusing on additional cancer related regions. A thorough manual review process completed by 42 reviewers, two advisors, and a judging panel of three researchers significantly …

Definitions And Measurements For Atypical Presentations At Risk For Diagnostic Errors In Internal Medicine: Protocol For A Scoping Review, Yukinori Harada, Ren Kawamura, Masashi Yokose, Taro Shimizu, Hardeep Singh

Faculty, Staff and Students Publications

BACKGROUND: Atypical presentations have been increasingly recognized as a significant contributing factor to diagnostic errors in internal medicine. However, research to address associations between atypical presentations and diagnostic errors has not been evaluated due to the lack of widely applicable definitions and criteria for what is considered an atypical presentation.

OBJECTIVE: The aim of the study is to describe how atypical presentations are defined and measured in studies of diagnostic errors in internal medicine and use this new information to develop new criteria to identify atypical presentations at high risk for diagnostic errors.

METHODS: This study will follow an established …

What Time Is It? It Is 8-And-A-1/2 Time. A Rare Case About Right Medial Pontine Stroke, Right Ino, Right Facial Colliculus Ischemic Stroke Consistent With Eight-And-A-Half Syndrome., Jessica Marcela Daza, Eunbee Cho, Celia Patricia Daza, Shakirat Ganiyu, Francisco Gomez

Research Symposium

Eight-and-a-half syndrome (EHS) is a rare neuro-ophthalmologic condition characterized by conjugated horizontal gaze palsy, internuclear ophthalmoplegia (INO), and ipsilateral fascicular seventh cranial nerve palsy. Clinical features are attributed to the involvement of the lower pontine, including the abducens nucleus, ipsilateral medial longitudinal fasciculus (MLF), and adjacent facial colliculus. Etiology includes vascular diseases such as pontine infarction or ischemia, demyelinating conditions at the level of the pons, and rarely space-occupying lesions.

Β-Cyclodextrin-Enzalutamide Self-Assembly Complexes For Prostate Cancer Therapy, Meghana Kolli, Rahul Tiwari, Subhash C. Chauhan, Yonghong Zhang, Neeraj Chauhan, Alba C. M, Murali Yallapu

Research Symposium

Background:Castrate circumstances brought on by therapy give rise to castrationresistant prostate cancer (CRPC), which thereafter develops androgen receptor (AR) resistance. AR inhibitors are frequently used to obstruct AR translocation in cells that overexpress AR and slow the progression of cancer by reducing the number of AR receptors that are accessible. In comparison to Bicalutamide, a first-generation AR inhibitor, the hydrophobic drug Enzalutamide has demonstrated higher effectiveness. We investigate Enzalutamide as a viable option for the formation of self-assembly complexes because AR downregulation is still the major treatment for CRPC.

Methods:Enz-loaded self-assembly complexes (enz-β-CD) formulation was developed using solvent …

Update On The Role Of Muc13 In Pancreatic Cancer: A Promising Early Detection Biomarker, Anupam Dhasmana, Swati Dhasmana, Sheema Khan, Meena Jaggi, Murali M. Yallapu, Subhash C. Chauhan

Research Symposium

Background: With the rise in pancreatic cancer (PanCa) prevalence and mortality rate, by 2030 it will secure second position among leading causes of cancer-related deaths. Due to poor prognosis of PanCa only 11% of PanCa patients have a 5-year survival rate, resulting in an equal mortality rate and incidence rate. 85% of PanCa are Pancreatic ductal adenocarcinoma (PDAC). The main clinical challenge with PanCa is poor treatment outcomes due the late diagnosis. Currently, there are traditional biomarkers panels available for diagnosis, however, these biomarkers do not have optimal sensitivity and specificity for PanCa. Considering this alarming unmet clinic need, our …

Unveiling The Influence Of Transcription Factor Yb1 In Hepatocellular Carcinoma Cell Lines, Yamile Abuchard, Sophia Leslie, Dennis Kwabiah, Ricardo Pequeno Bracho, Ana Ayala Pazzi, Mohammad Hussain, Manish Tripathi

Research Symposium

Background: In the Rio Grande Valley (RGV), Hispanics constitute the predominant ethnic group, accounting for over 94% of the population. Projections for 2023 indicate liver cancer to rank fifth in male and seventh in female mortality. Hepatocellular carcinoma (HCC) manifests as a significant concern within the Hispanic community, influenced by a spectrum of factors—biogenetic, social, and cultural—that intertwine with genetic predispositions and dietary practices. The incidence of HCC is intertwined with various illnesses like hepatitis, liver cirrhosis, drug-induced liver injury (DILI), adding to the burden of cancer. Over the years, HCC prevalence in the RGV has surged by over 35%. …

Unraveling Sorafenib Resistance In Hepatocellular Carcinoma: Exploring Key Facets, Dennis Kwabiah, Kyle Doxtater, Yamile Abuchard, Sophia Leslie, Ricardo Pequeno Bracho, Shaibir Hussain, Manish K. Tripathi

Research Symposium

Hepatocellular carcinoma (HCC) stands as the prevalent form of primary liver cancer worldwide, diagnosing over half a million new cases annually. Surgical interventions like hepatectomy and liver transplantation offer a potential cure for early-stage HCC. However, the prognosis for advanced stages remains grim due to drug resistance, particularly with high refractoriness rates. Sorafenib, a tyrosine kinase inhibitor, is an approved treatment for advanced HCC. Despite its use, the overall survival extension for these patients remains limited due to the drug's ineffectiveness, and the mechanism behind advanced HCC's resistance to sorafenib remains elusive. TCGA analysis of HCC patient cohorts reveals elevated …

Too Yellow: An Idiopathic Case Of Autoimmune Hemolytic Anemia, Shreel Patel, Kashif Ali, Donnel Dockery-Joseph, Eunbee Cho, Sriharsha Koneru, Taha Al Hassan, Aramide Tijani, Elimar Gonzalez Morales

Research Symposium

Background: Autoimmune hemolytic anemia is caused by autoantibodies that react with self red blood cells and cause them to be destroyed. Warm AIHA, due to antibodies that are active at body temperature, is the most common type of the AIHA. It is mostly caused by the underlying disease like infections, autoimmune disorders, lymphoproliferative disorders, immunodeficiency or physiologic state like pregnancy. Rarely it happens that there is no underlying cause. Therefore, here we present a case of idiopathic autoimmune hemolytic anemia without any underlying cause.

Case Discussion: A 77 year old lady with known history of the diabetes mellitus type 2, …

Trimeric Antp-Tbp Complexes With Tfiieβ And Exd Modulated The Transcriptional Activity Of Antp, Norma C. Hernández-Bautista, Claudia A. Altamirano-Torres, Ruben Montalvo Mendez, Gustavo Jiménez-Mejía, Diana Reséndez-Pérez

Research Symposium

Homeoproteins are transcription factors that bind to DNA through a highly conserved binding domain known as the homeodomain (HD), which recognizes short regions rich in A-T. This DNA binding triggers the modulation of multiple target genes responsible for identity in various structures along the A-P axis of D. melanogaster. However, the high similarity of homeodomains and their affinity for widely distributed sites in the genome poses the "Hox paradox," which seeks to explain how homeoproteins acquire functional specificity so precisely. Previous evidence shows that homeoproteins like Antennapedia (Antp) form dimers with cofactors and other transcription factors to modulate their …

The Role Of Oral Microbiota In Periodontitis And Alzheimer's Disease, Noah Al-Hassan, Taha Al Hassan, Juan C. Lopez-Alvarenga, Maria Quinones, Seratna Guadarrama

Research Symposium

Background: Periodontal disease (PD), affecting 20-50% of the global population is marked by biofilm-induced inflammation in oral tissues. Chronic PD results in systemic complications such as heart disease, stroke, and Alzheimer's. The red complex microbes, Porphyromonas gingivalis and Treponema denticola, play a pivotal role, penetrating the blood-brain barrier and contributing to neurodegeneration. Alzheimer's disease (AD), an irreversible neurodegenerative disorder, is linked to abnormal protein cleavage and potentially involves microbiologic components, including gram-positive cocci. Research suggests the presence of bacteria such as Porphyromonas, Actinomyces, and Treponema in autopsied AD brains. Investigating the microbiologic connection between PD and AD is crucial, considering …

Medical School Watercooler Newsletter - March 24, 2024, Lindsey Lyle

Watercooler Newsletter

This is the March 24, 2024 edition of the Frederick P. Whiddon College of Medicine’s newsletter - Watercooler.

Contents Include

• ODI Staff to discuss health disparities and equities
• Whiddon College of Medicine welcomes new associate dean for finance and administration
• Special OB-GYN grand rounds to focus on Black maternal mortality
• Meet a Med Student: Kramer Crider
• USA investigators identify potential biomarker for early pancreatic cancer diagnosis
• The Final Countdown: Doc Rock is Thursday Night
• DiPalma honored at 19th Annual Distinguished Alumni & Service Awards

Emotional Support Animals And Mental Health, Kyla E. Barnett, Kaia Miller

SACAD: Scholarly Activities

Depression and anxiety disorders are a significant problem in adults and teenagers. These disorders continue to increase in prevalence year by year. One way to combat this is the use of emotional support animals (ESA’s), which have become increasingly popular. This study investigates the relationship between the use of emotional support animals and mental well-being of students with mental health disorders. This study is designed to illustrate the increase in sense of well-being in patients with mental health disorders who utilize ESA’s. This study applies both a qualitative and quantitative study design, the qualitative design of this study is phenomenological. …

Effects Of Postpartum Depression On Mothers And Children, Natalie Taylor, Kennedy Harrington, Jeffrey Wick

SACAD: Scholarly Activities

Postpartum depression plagues many women in today’s society. To look deeper into postpartum depression, we questioned who could be affected other than the mother in this issue? The objective of this study is to analyze how postpartum affects children’s cognitive and behavioral development. We investigated cognitive and behavioral development of children 1-3 years old. Our research design of this study was a non-experimental observation approach. The setting used for our research was the Women’s Health Center at HaysMed. This research focuses on patients in the obstetrics department who recently gave birth. Participants of this study were the children of 75 …

Pharmacological Interventions Versus Non-Pharmacological Interventions On Pain In Chronic Pain Patients, Harley Page, Olivia Mcswain

SACAD: Scholarly Activities

The study is a comparison experiment that looks at the different types of interventions to treat chronic pain. This study is set at Haysmed Rehabilitation to gather data on adult patients with chronic pain. When studying the interventions used for chronic pain, we found numerous ways of treatment. They are categorized as pharmacological and non-pharmacological interventions. During the study we found, that an understanding of what is causing the pain and the use of both interventions is the best way to go about treating/managing chronic pain.

Use Of An Electronic Health Record System In The Nursing Education Lab & Simulation Setting, Easlyn Koch

SACAD: Scholarly Activities

Simulation has become a significant component of nursing education in recent years, especially with the increasing demand for high-fidelity simulations. However, nursing education struggles to keep up with the ever-changing healthcare technology, specifically electronic health records (EHR). Integrating EHRs into nursing education in areas such as the lab or simulation settings has the potential to impact overall patient safety, familiarity with similar technology, critical thinking skills, and practice readiness of student nurses. A review of the literature was performed, and it was found that the implementation and integration of an EHR in nursing education has overwhelming effects on overall student …

Undergraduate Nursing Education Simulation Training Using Virtual Reality Goggles And Teamstepps Methodology, Jennifer Koalenz

SACAD: Scholarly Activities

Abstract

Due to changes in educational processes during global pandemic restrictions and the rapid pace of innovation and developments in virtual reality technology, this modality of education is expected to become a common presence in healthcare education. Immersive simulation activities can be an effective way to facilitate collaboration and communication skills in a constructivist-based classroom. Evidence shows that virtual simulation improves critical thinking skills, psychomotor skills, and decision making (Padilha et al., 2019). In addition, the availability of an on-demand, customizable scenario is highly useful to supplement clinical learning when necessary. But many caution that virtual simulation, just like any …

Advancing Primary Ciliary Dyskinesia Diagnosis Through High-Speed Video Microscopy Analysis, Wilfredo De Jesús-Rojas, Zachary J Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M Quiñones, Marcos J Ramos-Benitez, Ricardo A Mosquera

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency …