Dentistry Commons^™

Optimizing Teaching Effectiveness In Dental Education For A New Generation Of Learners, Christopher J Walinski, Joe C Ontiveros, Fei Liu, Geralyn Crain, Saynur Vardar-Sengul

Faculty, Staff and Student Publications

Purpose: Today's dental students, Generation Z (Gen Z), are said to learn differently than those of previous generations. As generations of dental students vary, our teaching styles must keep up with unique and changing groups of individuals.

Methods: This article discusses learner-focused teaching methods including techniques that address the characteristics of Gen Z learners. Blended learning methods that combine online media with traditional face-to-face sessions, team-based learning, and a flipped classroom format have previously been suggested as ways to increase learning effectiveness and student satisfaction.

Results: In this paper, the characteristics and preferences of Gen Z students are described along …

Molecular Characteristics Of Periodontal Health: Collagens: Defining The Healthy Human Gingival Collagen Transcriptome, Christina Zachariadou, Thomas Hart, Deborah Hooper, Angelo Mariotti

School of Dentistry Faculty Publications

Background: Defining periodontal health has been an ambitious and complex goal. The numerous and varied definitions of what constitutes periodontal health have resulted in a collection of subjective and unreliable clinical findings to diagnose and classify periodontal health and disease. The aim of this study was to fundamentally delineate the molecular characteristics of healthy periodontal tissues in men and women as they age, using the most abundant connective tissue component: Collagens. Methods: Healthy gingival biopsies were separated into “young” (aged 18–35 years, five men/five women) and “old” (≥60 years, five men/four women) age groups depending on biological sex. RNA was …

Ageanno: A Knowledgebase Of Single-Cell Annotation Of Aging In Human, Kexin Huang, Hoaran Gong, Jingjing Guan, Lingxiao Zhang, Changbao Hu, Weiling Zhao, Liyu Huang, Wei Zhang, Pora Kim, Xiaobo Zhou

Faculty, Staff and Student Publications

Aging is a complex process that accompanied by molecular and cellular alterations. The identification of tissue-/cell type-specific biomarkers of aging and elucidation of the detailed biological mechanisms of aging-related genes at the single-cell level can help to understand the heterogeneous aging process and design targeted anti-aging therapeutics. Here, we built AgeAnno (https://relab.xidian.edu.cn/AgeAnno/#/), a knowledgebase of single cell annotation of aging in human, aiming to provide comprehensive characterizations for aging-related genes across diverse tissue-cell types in human by using single-cell RNA and ATAC sequencing data (scRNA and scATAC). The current version of AgeAnno houses 1 678 610 cells from 28 healthy …

Social And Economic Capital As Effect Modifiers Of The Association Between Psychosocial Stress And Oral Health, Abby L J Hensel, Noha Gomaa

Dentistry Publications

OBJECTIVES: To assess the extent of the association of psychosocial stress with oral health in an Ontario population stratified by age groups, and whether any association is modified by indicators of social and economic capital.

METHODS: We retrieved data of 21,320 Ontario adults, aged 30-74 years old, from the Canadian Community Health Survey (CCHS: 2017-2018), which is a Canada-wide, cross-sectional survey. Using binomial logistic regression models that adjusted for age, sex, education, and country of birth, we examined the association of psychosocial stress (indicated by perceived life stress) with inadequate oral health (indicated as having at least one of the …

Pinch Force Generation During Scaling By Dental Professionals: A Systematic Review, Jessica R. Suedbeck, Emily A. Ludwig

Dental Hygiene Faculty Publications

Objective

The objective of this review was to examine the impact of instrument designs on pinch force generation during scaling by dental professionals.

Methods

Three databases were utilized from September 2019 to November 2021 in addition to hand-searching specific journals and reference lists. Research articles that examined pinch force generation in dental professionals during scaling with manual instruments only were included. Bias was assessed in the individual articles.

Results

Six research articles were included with sample populations that varied from 12 to 24 participants. Four articles evaluated instrument designs in relation to pinch force generation during scaling by dental professionals. …

Use Gpt-J Prompt Generation With Roberta For Ner Models On Diagnosis Extraction Of Periodontal Diagnosis From Electronic Dental Records, Yao-Shun Chuang, Xiaoqian Jiang, Chun-Teh Lee, Ryan Brandon, Duong Tran, Oluwabunmi Tokede, Muhammad F Walji

Faculty, Staff and Student Publications

This study explored the usability of prompt generation on named entity recognition (NER) tasks and the performance in different settings of the prompt. The prompt generation by GPT-J models was utilized to directly test the gold standard as well as to generate the seed and further fed to the RoBERTa model with the spaCy package. In the direct test, a lower ratio of negative examples with higher numbers of examples in prompt achieved the best results with a F1 score of 0.72. The performance revealed consistency, 0.92-0.97 in the F1 score, in all settings after training with the RoBERTa model. …

Pediatric Oral Health: Advances And Challenges, Denise M. Claiborne

Dental Hygiene Faculty Publications

No abstract provided.

Population Variations Of Cheiloscopy Patterns: A Cross-Sectional Observation Pilot Study, Emily Smith Regan, Brenda T. Bradshaw, Ann M. Bruhn, Walter Melvin, Sinjini Sikdar

Dental Hygiene Faculty Publications

Purpose Lip prints are unique and have potential for use as a human identifier. The purpose of this study was to observe possible cheiloscopy differences of individuals with and without parafunctional oral habits such as smoking, vaping, playing a wind instrument or using an asthma inhaler.

Methods This IRB approved blinded cross-sectional observation pilot study collected lip prints from sixty-six individuals, three of which were excluded. Participants cleansed their lips, then lipstick was applied to the vermillion zones of the upper and lower lips. Adhesive tape was applied to the lips and prints were transferred to white bond paper for …

Dental Hygiene And Dental Assistant Students' Simulated Dvi Radiographic Match Accuracy: A Pilot Study, Samantha C. Vest, Brenda T. Bradshaw, Marsha A. Voelker, Ann M. Bruhn, Tara L. Newcomb, Sinjini Sikdar

Dental Hygiene Faculty Publications

Purpose Allied dental health care professionals have served on disaster victim identification (DVI) teams; however, the literature is void of statistical measures regarding transferable skills and disaster preparedness. The purpose of this study was to assess second year dental hygiene and dental assistant students’ match accuracy for simulated DVI radiographs and compare the match accuracy between the student groups.

Methods Five patient cases were chosen at random to retrospectively collect sets of digital bitewing radiographs from two time periods. The five retrospectively selected sets of images served as simulated antemortem (AM) and postmortem (PM) radiographs. A convenience sample of second …

Repair Of Complex Ovine Segmental Mandibulectomy Utilizing Customized Tissue Engineered Bony Flaps, Emma Watson, Hannah A Pearce, Katie J Hogan, Natasja W M Van Dijk, Mollie M Smoak, Sergio Barrios, Brandon T Smith, Alexander M Tatara, Timothy C Woernley, Jonathan Shum, Craig B Pearl, James C Melville, Tang Ho, Issa A Hanna, Nagi Demian, Jeroen J J P Van Den Beucken, John A Jansen, Mark E Wong, Antonios G Mikos

Faculty, Staff and Student Publications

Craniofacial defects require a treatment approach that provides both robust tissues to withstand the forces of mastication and high geometric fidelity that allows restoration of facial architecture. When the surrounding soft tissue is compromised either through lack of quantity (insufficient soft tissue to enclose a graft) or quality (insufficient vascularity or inducible cells), a vascularized construct is needed for reconstruction. Tissue engineering using customized 3D printed bioreactors enables the generation of mechanically robust, vascularized bony tissues of the desired geometry. While this approach has been shown to be effective when utilized for reconstruction of non-load bearing ovine angular defects and …

Identification Of Microbiological Factors Associated With Periodontal Health Disparities, Bing-Yan Wang, Aize Cao, Meng-Hsuan Ho, Derek Wilus, Sally Sheng, Hsiu-Wan Meng, Elissa Guerra, Jianming Hong, Hua Xie

Faculty, Staff and Student Publications

The present study aimed at identifying risk factors associated with periodontitis development and periodontal health disparities with emphasis on differential oral microbiota. The prevalence of periodontitis is recently rising dentate adults in the US, which presents a challenge to oral health and overall health. The risk of developing periodontitis is higher in African Americans (AAs), and Hispanic Americans (HAs) than in Caucasian Americans (CAs). To identify potentially microbiological determinations of periodontal health disparities, we examined the distribution of several potentially beneficial and pathogenic bacteria in the oral cavities of AA, CA, and HA study participants. Dental plaque samples from 340 …

Accelerometer-Measured Latent Physical Activity Profiles And Neurocognition Among Middle-Aged And Older Hispanic/Latino Adults In The Hispanic Community Health Study/Study Of Latinos (Hchs/Sol)\, Priscilla M Vásquez, Wassim Tarraf, Albert Chai, Adit Doza, Daniela Sotres-Alvarez, Keith M Diaz, Zvinka Z Zlatar, Ramon A Durazo-Arvizu, Linda C Gallo, Mayra L Estrella, Elizabeth Vásquez, Kelly R Evenson, Tasneem Khambaty, Bharat Thyagarajan, Richard H Singer, Neil Schneiderman, Martha L Daviglus, Hector M González

Faculty, Staff and Student Publications

Objectives: Derive latent profiles of accelerometry-measured moderate-vigorous physical activity (MVPA) for Hispanic/Latino adults, examine associations between latent MVPA profiles and neurocognition, and describe profiles via self-reported MVPA.

Methods: Complex survey design methods were applied to cross-sectional data from 7,672 adults ages 45-74 years in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL; 2008-2011). MVPA was measured via hip-worn accelerometers. Latent profile analysis was applied to derive latent MVPA profiles (minutes/day of week). Neurocognition was assessed with the Brief-Spanish English Verbal Learning Test (B-SEVLT) Sum, B-SEVLT Recall, Controlled Oral Word Association Test (word fluency), and Digit Symbol Substitution (DSS) test. All …

The Fate Of Early Perichondrial Cells In Developing Bones, Yuki Matsushita, Angel Ka Yan Chu, Chiaki Tsutsumi-Arai, Shion Orikasa, Mizuki Nagata, Sunny Y Wong, Joshua D Welch, Wanida Ono, Noriaki Ono

Faculty, Staff and Student Publications

In endochondral bone development, bone-forming osteoblasts and bone marrow stromal cells have dual origins in the fetal cartilage and its surrounding perichondrium. However, how early perichondrial cells distinctively contribute to developing bones remain unidentified. Here we show using in vivo cell-lineage analyses that Dlx5+ fetal perichondrial cells marked by Dlx5-creER do not generate cartilage but sustainably contribute to cortical bone and marrow stromal compartments in a manner complementary to fetal chondrocyte derivatives under the regulation of Hedgehog signaling. Postnatally, Dlx5+ fetal perichondrial cell derivatives preferentially populate the diaphyseal marrow stroma with a dormant adipocyte-biased state and are refractory to parathyroid …

Effect Of Selective Decontamination Of The Digestive Tract On Hospital Mortality In Critically Ill Patients Receiving Mechanical Ventilation: A Randomized Clinical Trial, The Suddicu Investigators For The Australian And New Zealand Intensive Care Society Clinical Trials Group, John A Myburgh, Ian M Seppelt, Fiona Goodman, Laurent Billot, Maryam Correa, Joshua S Davis, Anthony C Gordon, Naomi E Hammond, Jon Iredell, Qiang Li, Sharon Micallef, Jennene Miller, Jayanthi Mysore, Colman Taylor, Paul J Young, Brian H Cuthbertson, Simon R Finfer

Faculty, Staff and Student Publications

IMPORTANCE: Whether selective decontamination of the digestive tract (SDD) reduces mortality in critically ill patients remains uncertain.

OBJECTIVE: To determine whether SDD reduces in-hospital mortality in critically ill adults.

DESIGN, SETTING, AND PARTICIPANTS: A cluster, crossover, randomized clinical trial that recruited 5982 mechanically ventilated adults from 19 intensive care units (ICUs) in Australia between April 2018 and May 2021 (final follow-up, August 2021). A contemporaneous ecological assessment recruited 8599 patients from participating ICUs between May 2017 and August 2021.

INTERVENTIONS: ICUs were randomly assigned to adopt or not adopt a SDD strategy for 2 alternating 12-month periods, separated by a …

A Comprehensive Artificial Intelligence Framework For Dental Diagnosis And Charting, Tanjida Kabir, Chun-Teh Lee, Luyao Chen, Xiaoqian Jiang, Shayan Shams

Faculty, Staff and Student Publications

BACKGROUND: The aim of this study was to develop artificial intelligence (AI) guided framework to recognize tooth numbers in panoramic and intraoral radiographs (periapical and bitewing) without prior domain knowledge and arrange the intraoral radiographs into a full mouth series (FMS) arrangement template. This model can be integrated with different diseases diagnosis models, such as periodontitis or caries, to facilitate clinical examinations and diagnoses.

METHODS: The framework utilized image segmentation models to generate the masks of bone area, tooth, and cementoenamel junction (CEJ) lines from intraoral radiographs. These masks were used to detect and extract teeth bounding boxes utilizing several …

The Preventive Effect Of Glass Ionomer Restorations On New Caries Formation: A Systematic Review And Meta-Analysis, Kelsey Xingyun Ge, Ryan Quock, Chun-Hung Chu, Ollie Yiru Yu

Faculty, Staff and Student Publications

Objective: To investigate the effectiveness of glass ionomer cement (GIC) restorations on preventing new caries in primary or permanent dentitions compared with other types of restorations.

Data: Randomized controlled clinical trials evaluating caries experience increment or caries incidence in patients with GIC restorations, including conventional GIC (CGIC) and resin-modified GIC (RMGIC) restorations, were included.

Sources: A systematic search of publications in English was conducted in PubMed/Medline, Web of Science, Cochrane, and Scopus databases.

Study selection/results: This review included 10 studies reporting caries preventive effect of GIC restorations and selected 5 studies for meta-analysis. Patients with GIC restorations showed lower caries …

Monkeypox: What Do Dental Professionals Need To Know?, Charifa Zemouri, Edgar O Beltrán, Richard Holliday, Nicholas S Jakubovics, James R Allison

Faculty, Staff and Student Publications

Infection control is critical for the safe delivery of dental care. Infection control practices must be responsive to emerging and re-emerging infectious diseases and outbreaks, as was clearly seen during the peak of the COVID-19 pandemic. An emerging global outbreak of the monkeypox virus has again raised potential challenges for infection control in dentistry. Monkeypox is an infectious disease, characterised by a rash affecting the skin and soft tissues, including the oral cavity. Previously, cases were mostly seen following contact with infected animals in Central and West Africa, with limited human-to-human transmission within and outside of these areas. However, since …

Diverse Stem Cells For Periodontal Tissue Formation And Regeneration, Mizuki Nagata, Jeryl D English, Noriaki Ono, Wanida Ono

Faculty, Staff and Student Publications

The periodontium is comprised of multiple units of mineralized and nonmineralized tissues including the cementum on the root surface, the alveolar bone, periodontal ligament (PDL), and the gingiva. PDL contains a variety of cell populations including mesenchymal stem/progenitor cells (MSCs) termed PDLSCs, which contribute to periodontal regeneration. Recent studies utilizing mouse genetic models shed light on the identities of these mesenchymal progenitors in their native environment, particularly regarding how they contribute to homeostasis and repair of the periodontium. The current concept is that mesenchymal progenitors in the PDL are localized to the perivascular niche. Single-cell RNA sequencing (scRNA-seq) analyses reveal …

Understanding The Feelings And Experiences Of Patients With Periodontal Disease: A Qualitative Meta-Synthesis, Jun Yin, Yan Li, Mingyu Feng, Li Li

Faculty, Staff and Student Publications

BACKGROUND: Patients' experiences, feelings, and perceptions play key roles in quality of life and dental care quality, but they are poorly understood in periodontal disease. Therefore, this meta-synthesis aimed to gain deep insights into the feelings, experiences, and perceptions of people living with periodontal disease.

METHODS: Electronic database searches in PubMed, Cochrane Library, EMBASE, Scopus, Web of Science, PsycINFO, CINAHL, and Open AIRE were conducted up to December 2021 (updated in June 2022). The JBI Critical Appraisal Tool was used for quality assessment. Then reviewers integrated findings from qualitative studies with a thematic synthesis approach.

RESULTS: A total of 567 …

Development Of A Quality Improvement Dental Chart Review Training Program, Elsbeth Kalenderian, Nutan B Hebballi, Amy Franklin, Alfa Yansane, Ana M Ibarra Noriega, Joel White, Muhammad F Walji

Faculty, Staff and Student Publications

INTRODUCTION: Chart review is central to understanding adverse events (AEs) in medicine. In this article, we describe the process and results of educating chart reviewers assigned to evaluate dental AEs.

METHODS: We developed a Web-based training program, "Dental Patient Safety Training," which uses both independent and consensus-based curricula, for identifying AEs recorded in electronic health records in the dental setting. Training included (1) didactic education, (2) skills training using videos and guided walkthroughs, (3) quizzes with feedback, and (4) hands-on learning exercises. In addition, novice reviewers were coached weekly during consensus review discussions. TeamExpert was composed of 2 experienced reviewers, …

Advances In Head And Neck Cancer Pain, Y Ye, D D Jensen, C T Viet, H L Pan, W M Campana, M Amit, M D Boada

Faculty, Staff and Student Publications

Head and neck cancer (HNC) affects over 890,000 people annually worldwide and has a mortality rate of 50%. Aside from poor survival, HNC pain impairs eating, drinking, and talking in patients, severely reducing quality of life. Different pain phenotype in patients (allodynia, hyperalgesia, and spontaneous pain) results from a combination of anatomical, histopathological, and molecular differences between cancers. Poor pathologic features (e.g., perineural invasion, lymph node metastasis) are associated with increased pain. The use of syngeneic/immunocompetent animal models, as well as a new mouse model of perineural invasion, provides novel insights into the pathobiology of HNC pain. Glial and immune …

Cranial Base Synchondrosis: Chondrocytes At The Hub, Shawn A Hallett, Wanida Ono, Renny T Franceschi, Noriaki Ono

Faculty, Staff and Student Publications

The cranial base is formed by endochondral ossification and functions as a driver of anteroposterior cranial elongation and overall craniofacial growth. The cranial base contains the synchondroses that are composed of opposite-facing layers of resting, proliferating and hypertrophic chondrocytes with unique developmental origins, both in the neural crest and mesoderm. In humans, premature ossification of the synchondroses causes midfacial hypoplasia, which commonly presents in patients with syndromic craniosynostoses and skeletal Class III malocclusion. Major signaling pathways and transcription factors that regulate the long bone growth plate-PTHrP-Ihh, FGF, Wnt, BMP signaling and Runx2-are also involved in the cranial base synchondrosis. Here, …

Muc1 And Polarity Markers Inadl And Scrib Identify Salivary Ductal Cells, D Wu, P J Chapela, C M L Barrows, D A Harrington, D D Carson, R L Witt, N G Mohyuddin, S Pradhan-Bhatt, M C Farach-Carson

Faculty, Staff and Student Publications

Current treatments for xerostomia/dry mouth are palliative and largely ineffective. A permanent clinical resolution is being developed to correct hyposalivation using implanted hydrogel-encapsulated salivary human stem/progenitor cells (hS/PCs) to restore functional salivary components and increase salivary flow. Pluripotent epithelial cell populations derived from hS/PCs, representing a basal stem cell population in tissue, can differentiate along either secretory acinar or fluid-transporting ductal lineages. To develop tissue-engineered salivary gland replacement tissues, it is critical to reliably identify cells in tissue and as they enter these alternative lineages. The secreted protein α-amylase, the transcription factor MIST1, and aquaporin-5 are typical markers for acinar …

Covid-Associated Avascular Necrosis Of The Maxilla-A Rare, New Side Effect Of Covid-19, Victoria A Mañón, Steven Balandran, Simon Young, Mark Wong, James C Melville

Faculty, Staff and Student Publications

Purpose: The purpose of this article is to present an interesting, rare case of a patient who experienced avascular necrosis of the maxilla associated with COVID-19 infection.

Methods and results: Our team retrospectively evaluated this patient's chart after completion of surgical management. The patient is a 72-year-old male who presented to the University of Texas Health Science Center at Houston for surgical management of his infarcted maxilla, which developed as a sequela of infection with COVID-19. A literature review was completed using PubMed. Twenty-five articles are reviewed and discussed.

Conclusions: Infection with COVID-19 confers a hypercoagulable state in patients, leading …

Assessment Of Oral And Overall Health Parameters Using The Sillha Oral Wellness System, Shawn S Adibi, Ryan Hanson, David F Fray, Tania Abedi, Brianna Neil, Danielle Maher, Gena Tribble, Ben F Warner, Mary C Farach-Carson

Faculty, Staff and Student Publications

OBJECTIVE: The study evaluated use of a multipoint saliva analyzer to assess patient wellness in a contemporary dental practice setting.

STUDY DESIGN: Unstimulated saliva from a diverse 104 patient cohort was analyzed using the SillHa Oral Wellness System. The device measures the following 7 analytes present in the patient's oral rinse: cariogenic bacteria, acidity, buffer capacity, blood, leukocytes, protein, and ammonia. Data obtained were compared with validated clinical assessment data independently provided by credentialed dental professionals.

RESULTS: Measured leukocyte and protein levels were higher in patients with periodontal disease and/or deep gingival pockets. Patients with a history of cancer and/or …

An Observational Retrospective Study Of Adverse Events And Behavioral Outcomes During Pediatric Dental Sedation, Kawtar Zouaidi, Gregory Olson, Helen H Lee, Elsbeth Kalenderian, Muhammad F Walji

Faculty, Staff and Student Publications

Purpose: The purpose of this study was to examine a university-based dental electronic health records (EHR) database to identify sedation-related adverse events (AEs) and assess patients' behavioral outcomes during routine pediatric dental sedations (PDSs) in a dental school clinic.

Methods: A database was screened for patients younger than 18 years old who had received dental sedation in 2019. The qualifying EHRs were then accessed and sedations were reviewed for AEs, which were categorized using a 12-point classification system and the Tracking and Reporting Outcomes of Procedural Sedation Tool. Patient behaviors were assessed using provider progress notes and categorized as presence/ …

Barriers And Motivations To Provide Dental Care To Adult Patients With Movement Disorders, Natalia S Rozas, Hillary D Strassner, June M Sadowsky, Cameron B Jeter

Faculty, Staff and Student Publications

Patients with movement disorders, like Parkinson's and Huntington's diseases, tend to have poor oral health. Although contributing factors have been proposed, the willingness and ability of dentists to treat this patient population are still unknown. Our objective is to understand the current barriers and motivations of dentists to treat this patient population as a path to improved care and quality of life. A total of 176 dentists in Texas were surveyed through a structured questionnaire which contained both closed and open-ended questions. Nearly 30% of participants reported having no barriers to treating these patients and 26.7% reported that no such …

Midsagittal Plane First: Building A Strong Facial Reference Frame For Computer-Aided Surgical Simulation, Maggie K Grissom, Jaime Gateno, Jeryl D English, Helder B Jacob, Tianshu Kuang, Carla E Gonzalez, Peng Yuan, Hannah H Deng, Caleb J Frick, Daeseung Kim, Abdullahi Hassan, James J Xia

Faculty, Staff and Student Publications

Purpose: A facial reference frame is a 3-dimensional Cartesian coordinate system that includes 3 perpendicular planes: midsagittal, axial, and coronal. The order in which one defines the planes matters. The purposes of this study are to determine the following: 1) what sequence (axial-midsagittal-coronal vs midsagittal-axial-coronal) produced more appropriate reference frames and 2) whether orbital or auricular dystopia influenced the outcomes.

Methods: This study is an ambispective cross-sectional study. Fifty-four subjects with facial asymmetry were included. The facial reference frames of each subject (outcome variable) were constructed using 2 methods (independent variable): axial plane first and midsagittal plane first. Two board-certified …

Bigmouth: Development And Maintenance Of A Successful Dental Data Repository, Muhammad F Walji, Heiko Spallek, Krishna Kumar Kookal, Jane Barrow, Britta Magnuson, Tamanna Tiwari, Udochukwu Oyoyo, Michael Brandt, Brian J Howe, Gary C Anderson, Joel M White, Elsbeth Kalenderian

Faculty, Staff and Student Publications

Few clinical datasets exist in dentistry to conduct secondary research. Hence, a novel dental data repository called BigMouth was developed, which has grown to include 11 academic institutions contributing Electronic Health Record data on over 4.5 million patients. The primary purpose for BigMouth is to serve as a high-quality resource for rapidly conducting oral health-related research. BigMouth allows for assessing the oral health status of a diverse US patient population; provides rationale and evidence for new oral health care delivery modes; and embraces the specific oral health research education mission. A data governance framework that encouraged data sharing while controlling …

Identification Of A Novel Microdeletion Causative Of Nance-Horan Syndrome, Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey

Faculty, Staff and Student Publications

BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blade-shaped incisors, supernumerary maxillary incisors, diastema, delays, intellectual disability, and dysmorphic facies. With the evolution of array-CGH technology, a total of five kindreds with NHS have been reported in the medical literature with microdeletions encompassing the NHS gene rather than sequencing variants.

METHODS: The patient is a 19-year-old male born to non-consanguineous parents with a past medical history of bilateral congenital cataracts, nystagmus, poor …