Medical Sciences Commons^™

Characterization Of Lingual Foramina Using Cone-Beam Computed Tomography, Fatma Elbaz, Fatma Ata, Bassant Mowafy, Jilan Youssef

Mansoura Journal of Dentistry

Objective: To assess the location and anatomical character of lingual foramina using CBCT. Materials and Methods:CBCT records of 108 patients were evaluated to detect the presence, location, size, and number of lingual foraminausing axial, and cross sectional images. Results: A total of 463 lingual foramina (representing 100% of all patients)were found. Individuals had between one and eight lingual foraminaon their jaw, with the majority of cases having four(24.1%). Regarding the size; 336 (72.7%) were ≤1 mm and 127 (27.3%) were >1 mm. Regarding the location, only 162(35%) were LLF, while most of the lingual foramina were MLF (65%). Moreover 23 …

Invitro Evaluation Of Bioceramic Sealer Penetration In Radicular Dentin: A Confocal Microscopy Study, Mai A. Wahab, Mohammad O. Shawky, Amany E. Badr

Mansoura Journal of Dentistry

Objective: To assess the area of sealer penetration into dentinal tubules in different sections ofthe root canal using a confocal laser scanning microscope after irrigation with NaOCl and followed by ultrasonicactivation. Materials and Methods: Mandibular premolars were selected according to the inclusion criteria which are:single straight root canal or slightly curved, fully developed apex with patent foramina, no obstruction in the canalsystem or indication of internal and/or external resorption or signs of crack or fracture, then the teeth were prepared,irrigated using NaOCl, activated, and then filled with Meta Biomed CeraSeal Bioceramic sealer using a single coneobturation technique. Rhodamine B was …

Influence Of Different Conditioning Protocols On Bond Strength To Glass Ceramic, Fatima A. Shalaby, Nesma M. Elgohary, Noha A. El Wassefy, Ahmed A. Abo El- Naga

Mansoura Journal of Dentistry

Objective: To detect the effect of different surface treatments on bond strength to machinable glass ceramic. Materialsand Methods: Sixteen glass ceramic blocks (IPS e.max CAD/CAM) were fabricated by a CAD/CAM machine withdimensions (6mm × 11mm x 13mm) and divided into 4 groups (n=4), according to surface treatments: (G1)Hydrofluoric acid (HF) etching and silane application, (G2) Acidulated phosphate fluoride (APF) and silaneapplication, (G3) Monobond Etch and Prime (MEP), (G4) Tetrabutylammonium dihydrogen trifluoride (TDTF) andsilane application.Composite resin blocks (Te econome) were fabricated and cemented to the treated ceramic blocksusing adhesive resin cement. All bonded specimens were kept in a water bath for …

Evaluation Of Surface Roughness, Water Sorption, And Solubility Of Glass Ionomer Restorative Cement Incorporated With Different Antibiotics, Wafaa S. Ahmed, Essam E. Al-Wakeel, Enas T. Enan, Noha A. El-Wassefy

Mansoura Journal of Dentistry

Objective: To evaluate the influence of adding different antibiotics to glass ionomer cement (GIC) on its surfaceroughness, water sorption, and solubility. Materials and Methods: A two-component GIC system (Fuji IX) andcommercially available antibiotic tablets including ciprofloxacin and amoxicillin /clavulanate were used. The two typesof powdered antibiotics were incorporated and stirred with the GIC powder at a ratio of 2 wt%. A total number of 120Specimens were prepared using a split Teflon mold and grouped as follows; group I: Conventional GIC as a controlgroup, group II: Ciprofloxacin-modified GIC, group III: (Amoxicillin/Clavulanate)-modified GIC, group IV: acombination of the two antibiotics-modified GIC. Each …

Epstein-Barr Virus-Associated Lymphoepithelial Carcinoma Arising In The Parotid Gland: A Case Report And Literature Review, Akinobu Kubota, Nobuyuki Bandoh, Takashi Goto, Ken-Ichi Matsumoto, Tomomi Yamaguchi-Ishochi, Yasutaka Kato, Hiroshi Nishihara, Hidehiro Takei

Faculty, Staff and Student Publications

A 60-year-old woman presented with a 3-year history of a slow-growing, painless mass in their left parotid gland. Ultrasonography revealed a well-circumscribed, lobulated, hypoechoic mass measuring 19x12x10 mm in the left parotid gland. Computed tomography revealed a well-circumscribed, solid mass with homogeneous enhancement. Fluorodeoxyglucose-positron emission tomography revealed uptake by the tumor but no uptake in other organs, including the nasopharynx. The patient underwent superficial parotidectomy with adequate safety margins and selective neck dissection followed by radiotherapy. No facial paralysis or recurrence of the tumor had been observed as of 20 months post-operation. Histologically, the tumor was composed of sheets of …

Dredged Sediments Contain Potentially Beneficial Microorganisms For Agriculture And Little Harmful Cyanobacteria, Megan A. Rúa, Ashley N. Julian, Louise Stevenson

Biological Sciences Faculty Publications

Abstract Introduction Soils worldwide are degrading, raising concerns about our ability to feed the growing global population. Soil amendments that can alleviate degradation are gaining attention. The application of sediments dredged from waterways to agricultural fields has increasing promise as a means for improving degraded soils. However, herbaceous plant species may have difficulty establishing on dredged material because of low nutrient availability, inhibitory levels of toxins, unsuitable moisture conditions and lack of microorganisms capable of ameliorating these characteristics. To counteract these issues, we sought to understand if the use of a cover crop would increase the abundance, diversity and function …

Evaluating The Impact Of Long Read Genomes In Rare Disease: A Systematic Analysis Of 1000 Hifi Genomes, Emily Farrow, Isabelle Thiffault, Ana S A Cohen, Tricia N. Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren A. Cheung, Jeffrey J. Johnston, T Pastinen

Posters

Introduction: Genomic technologies continue to advance at a rapid rate, leading to continued novel gene-disease discoveries. However, despite the exponential increase in new gene discoveries, diagnostic rates in rare disease continue to range from 30-50%. To evaluate the impact of long read genome sequencing (lrGS) in a rare disease cohort, lrGS was implemented systematically in an institution-wide research program, Genomic Answers for Kids (GA4K). Methods: Individuals enrolled in GA4K, with a suspected genetic disorder, that remained undiagnosed after exome or genome sequencing, were submitted for HiFi sequencing. Probands were sequenced to a target depth of 30X coverage. Analyses included copy …

Therapeutic Potential Of Low-Level Laser Photobiomodulation On Adjuvant Induced Temporomandibular Joint Arthritis In A Rat Model, Rana El-Qashty, Osama A. Elkashty, Eman Hany

Mansoura Journal of Dentistry

Objective: To test the efficacy of low-level laser therapy (LLLT) to alleviate temporomandibular TMJ induced arthritisin rats. Materials and methods: Rats were randomly allocated to three groups: group I (sham control), group II(arthritis) where animals were subjected to arthritis induction using complete Freund’s adjuvant followed by LLLT (0j/cm2), and group III (LLLT) where animals were subjected to arthritis induction followed by LLLT (38 j/cm2). One andthree weeks after treatment onset, rats were euthanized and specimens were subjected to histological,histomorphometric, and histochemical analysis. Results: The sham group showed normal histology. The arthritic groupshowed severe changes with surface irregularity, loss of condylar …

Effect Of Locally Injectable Platelet-Rich Plasma As An Adjunct To Scaling And Root Planing On Salivary Mmp-8 Level In Periodontitis Patients, Mohamed A. El-Sharabasy, Bassant Mowafey, Mohamed M. Anees, Azza A. Elbaiomy

Mansoura Journal of Dentistry

Objective: To assess the effect of platelet-rich plasma (PRP) local injection in the treatment of periodontitis, as anadjunct to scaling and root planing (SRP).Materials and Methods: Ninety subjects were involved in this study. Theywere divided into 3 groups. Group I (negative control) included 30 subjects with healthy periodontium. Group II(positive control) included 30 periodontit is patients who were treated by SRP planing. Group III (study) included 30periodontitis patients who were treated with SRP and PRP injections. Plaque index (PI), Gingival index (GI), probingpocket depth (PPD), and clinical attachment level (CAL) in addition to MMP-8 level recorded at baseline for all …

Confocal Laser Scanning Microscopy Evaluation Of The Effect Of Lentulo Spiral And Ultrasonic Activation On Intra-Tubular Sealer Penetration, Marwa E. Mohammed, Alaa Eldin Elshazli, Amany E. Badr

Mansoura Journal of Dentistry

Objective: To evaluate the effect of lentulospiral and ultrasonic activation on the intra-tubular AH plus sealer penetrationusing confocal laser scanning microscopy.Materials and Methods: Twenty extracted single-rooted teeth werecollected; teeth were prepared up to ProTaper finishing file F4 (size 40). Teeth were randomly divided into two maingroups (n=10 teeth) according to activation techniques. The AH plus sealer with rhodamine B was activated bylentulospiral in group 1 and Irrisafe ultrasonic tip in group 2. The root canals were obturated with a single gutta-perchacone (size F4). The roots were sectioned at 3, 6, and 9 mm levels from the apex and examined with …

Transabdominal Cerclage During Pregnancy: A Retrospective Single Operator Series Over A Quarter Century, David R Hall, Mari Van De Vyver

Faculty, Staff and Student Publications

OBJECTIVE: To describe the pregnancy outcomes and complications observed in a series of cases of transabdominal cerclage (TAC), which is reserved for highly selected women with recurrent mid-trimester pregnancy loss, due to cervical insufficiency.

METHODS: A retrospective audit covering 25 years (January 1, 1997 to December 31, 2021) was performed at the Obstetric Special Care division, Tygerberg Academic Hospital in Cape Town, South Africa. All 118 pregnancies from 94 procedures, operated and managed by the principal author were included for descriptive analysis.

RESULTS: Eighty-four (91.3%) of the 92 first pregnancies after first insertion had successful outcomes. All second and third …

Approaches For Optimizing Venous Thromboembolism Prevention In Injured Patients: Findings From The Consensus Conference To Implement Optimal Venous Thromboembolism Prophylaxis In Trauma, Amanda L Teichman, Bryan A Cotton, James Byrne, Navpreet K Dhillon, Allison E Berndtson, Michelle A Price, Tracy J Johns, Eric J Ley, Todd Costantini, Elliott R Haut

Faculty, Staff and Student Publications

Venous thromboembolism (VTE) is a major issue in trauma patients. Without prophylaxis, the rate of deep venous thrombosis approaches 60% and even with chemoprophylaxis may be nearly 30%. Advances in VTE reduction are imperative to reduce the burden of this issue in the trauma population. Novel approaches in VTE prevention may include new medications, dosing regimens, and extending prophylaxis to the postdischarge phase of care. Standard dosing regimens of low-molecular-weight heparin are insufficient in trauma, shifting our focus toward alternative dosing strategies to improve prophylaxis. Mixed data suggest that anti-Xa-guided dosage, weight-based dosing, and thromboelastography are among these potential strategies. …

Validation Of The Entrainment Signal Regularity Index And Associations With Children’S Changes In Bmi, Jennette P Moreno, Kevin M Hannay, Amy R Goetz, Olivia Walch, Philip Cheng

Children’s Nutrition Research Center Staff Publications

Objective: This study examined the validity of a novel metric of circadian health, the Entrainment Signal Regularity Index (ESRI), and its relationship to changes in BMI during the school year and summer.

Methods: In a longitudinal observational data set, this study examined the relationship between ESRI score and children's (n = 119, 5- to 8-year-olds) sleep and physical activity levels during the school year and summer, differences in ESRI score during the school year and summer, and the association of ESRI score during the school year and summer with changes in BMI across those time periods.

Results: The ESRI score …

Evaluation Of Mara Appliance With Skeletal Anchorage In Early Treatment Of Class Ii Malocclusion, Emad Eddin A. Obaid, Marwa A. Tawfik, Ahmed Hafez

Mansoura Journal of Dentistry

Objective: To investigate the effects of the fixed functional appliance Mandibular Anterior Repositioning Appliance(MARA) with skeletal anchorage on growing patients with skeletal Class II malocclusion. Materials and Methods:This study was conducted on 10 patients with a mean age of 10.3 years with skeletal Class II malocclusion. Thesepatients were treated simultaneously with the MARA appliance with skeletal anchorage for 16.5 months on average. Allthe patients had the following criteria: skeletal Class II due to mandibular retrusion, overjet more than 4mm, nosystemic diseases, no previous orthodontic treatment, or abnormal habits. Photographs and study casts were obtainedbefore and after treatment. Lateral head films …

Comparative Evaluation Of Microleakage Of Different Class V Cavity Preparation Restored With Composite In Primary Molars: An In Vitro Study, Henar E. Elsayed, Ibrahim H. El Kalla, Hossam E. Hammouda

Mansoura Journal of Dentistry

Objective: To compare the effect of the cavity design and the location of the gingival wall, onenamel and cementum on the microleakage of Class V composite resin restorations in primary molars. Materialsand Methods: Class V cavity was made on the buccal surface of sixty sound primary mandibular second molar inthis study. The teeth were divided into two main groups: Group A (Kidney shaped cavity) and Group B (Rectangleshaped cavity). Each group was also subdivided into two subgroups, Subgroup A1; Kidney shape with gingivalmargin on enamel, Subgroup A2; Kidney shape with gingival margin on cementum, Subgroup B1; Rectangle shapewith gingival margin …

Correlation Between Molecular Changes And Inflammatory Cascade In Deep Carious Lesions With Dental Pulp Exposure Using Superoxide Dismutase, Ahmed G. Elebeidy, Farid A. Badria, Ahmed A. Elsoda, Amany E. Badr

Mansoura Journal of Dentistry

Objective: To use Superoxide dismutase (SOD) as a diagnostic biomarker to correlatemolecular changes in the inflammatory cascade in deep carious lesions with dental pulp exposure.Materials andMethods: A total of 40 cases with deep carious lesions with expected pulp exposure and signs of pulp vitality withoutsigns of periapical inflammation were selected from the outpatient clinic, Faculty of Dentistry, Mansoura University.Another 6 control cases were selected from the orthodontics department clinic. Results: Our results show that there is astatistically significantly lower mean percent inhibition among cases than in the control group 63.31±24.61versus94.52±2.97 (p=0.004). However, there appears to be no statistically significant difference …

Singlet Oxygen Quenching By Resveratrol Derivatives, Charlotte G Monsour, Abegail C Tadle, Bliss J Tafolla-Aguirre, Nidhi Lakshmanan, Jin Hyeok Yoon, Rhemrose B Sabio, Matthias Selke

Faculty, Staff and Student Publications

We investigated the singlet oxygen quenching ability of several derivatives of trans-resveratrol which have been reported to have significant antioxidant ability, including photoprotective activity. We measured the total rate constants of singlet oxygen removal (kT) by the methylated resveratrol derivative 1,3-dimethoxy-5-[(E)-2-(4-methoxyphenyl)ethenyl]benzene, and the partially methylated resveratrol derivatives 4-((E)-2-(3,5-dimethoxyphenyl)ethenyl)phenol (pterostilbene), 5-[(E)-2-(4-methoxyphenyl)ethenyl]benzene-1,3-diol and (2R,3R)-3,5,7-trihydroxy-2-(3,4,5-trihydroxyphenyl)-2,3-dihydrochromen-4-one (dihydromyricetin). A protic solvent system results in higher kT values, except for the completely methylated derivative. We also investigated the ability of trans-resveratrol to directly act as a photosensitizer (rather than via secondary photoproducts resulting from other primary photochemical …

Linoleic Acid Improves Piezo2 Dysfunction In A Mouse Model Of Angelman Syndrome, Luis O Romero, Rebeca Caires, A Kaitlyn Victor, Juanma Ramirez, Francisco J Sierra-Valdez, Patrick Walsh, Vincent Truong, Jungsoo Lee, Ugo Mayor, Lawrence T Reiter, Valeria Vásquez, Julio F Cordero-Morales

Faculty, Staff and Student Publications

Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and atypical behaviors. AS results from loss of expression of the E3 ubiquitin-protein ligase UBE3A from the maternal allele in neurons. Individuals with AS display impaired coordination, poor balance, and gait ataxia. PIEZO2 is a mechanosensitive ion channel essential for coordination and balance. Here, we report that PIEZO2 activity is reduced in Ube3a deficient male and female mouse sensory neurons, a human Merkel cell carcinoma cell line and female human iPSC-derived sensory neurons with UBE3A knock-down, and de-identified stem cell-derived neurons from individuals with AS. We find that loss …

Elastic Priors To Dynamically Borrow Information From Historical Data In Clinical Trials, Liyun Jiang, Lei Nie, Ying Yuan

Faculty, Staff and Student Publications

Use of historical data and real-world evidence holds great potential to improve the efficiency of clinical trials. One major challenge is to effectively borrow information from historical data while maintaining a reasonable type I error and minimal bias. We propose the elastic prior approach to address this challenge. Unlike existing approaches, this approach proactively controls the behavior of information borrowing and type I errors by incorporating a well-known concept of clinically significant difference through an elastic function, defined as a monotonic function of a congruence measure between historical data and trial data. The elastic function is constructed to satisfy a …

Methacrylate Versus Ormocer - Based Composites: Impact Of Preheating On Repair Bond Strength, Aya M. El Said, Asmaa A. Mohamed, Ashraf I. Ali, Salah H. Mahmoud

Mansoura Journal of Dentistry

Objective: To evaluate and compare the impact of preheating on the repair bond strength of Methacrylate and Ormocerbased composite. Materials and Methods: A total number of 24 standardized cuboid composite blocks were fabricatedwith the aid of teflon split mold (25×4×4) mm dimensions. Half of these composite blocks were made from a universalnanohybrid methacrylate-based composite and the other half was made from a universal nanohybrid Ormocer based.The top surfaces of all mounted specimens were surface treated with sandblasting, silane coupling agents, and universaladhesive of the same brand of composite. Four cylindrical composite rods (2 mm height, 3 mm internal diameter) werebuilt …

Loss Of Peroxiredoxin Iv Protects Mice From Azoxymethane/Dextran Sulfate Sodium-Induced Colorectal Cancer Development, Pratik Thapa, Hong Jiang, Na Ding, Yanning Hao, Aziza Alshahrani, Eun Young Lee, Junichi Fujii, Qiou Wei

Markey Cancer Center Faculty Publications

Peroxiredoxin IV (Prx4), a typical two-cysteine-containing member of the peroxidase family, functions as an antioxidant to maintain cellular redox homeostasis through the reduction of reactive oxygen species (ROS) via cycles of oxidation–reduction reactions. Under oxidative stress, all Prxs including Prx4 are inactivated as their catalytic cysteines undergo hyperoxidation, and hyperoxidized two-cysteine Prxs can be exclusively repaired and revitalized through the reduction cycle catalyzed by sulfiredoxin (Srx). Previously, we showed that Prx4 is a preferred substrate of Srx, and knockout of Srx in mice leads to resistance to azoxymethane/dextran sulfate sodium (AOM/DSS)-induced colon carcinogenesis. To further understand the significance of the …

Abstract 1858: Active And Allosteric Site Evolution Directs Ordered Water Use In Kinesin Catalysis, Micquel Downs, David Worthylake, Jessica Richard, Courtney Parke, Elizabeth Kim, Edward J. Wojcik, Sunyoung Kim

School of Graduate Studies Faculty Publications

2023 American Society for Biochemistry and Molecular Biology (ASBMB) Annual Meeting; March 25 - 28, 2023; Seattle, WA

A Case Of Hexasomy 15q Due To A Tricentric Supernumerary Chromosome 15, Emily Farrow, Laura A. Cross, Bonnie Sullivan, Keely M. Fitzgerald, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang

Posters

Background: A 7-month-old male with a history of developmental delay, plagiocephaly, hypotonia, chronic cough/congestion was admitted for abnormal movements. Prolonged EEG revealed focal epilepsy and epileptic spasms. Genetic testing revealed a complex structurally rearranged chromosome 15 which contains two inverted duplicated chromosome 15s joined together at one end, resulting in partial hexasomy for 15q. Case presentation: The proband was born to a G2P2 33-year-old mother following an uncomplicated pregnancy at 40 weeks 2 days gestation. At birth he was 6lbs 8oz, 20in long, and APGARs were 3/5/9 at 1/5/10 minutes. At delivery he was limp, pale and had poor tone …

Chronic Environmental Circadian Disruption Increases Atherosclerosis And Dyslipidemia In Female, But Not Male, Apolipoproteine-Deficient Mice, Jeffrey M. Chalfant, Deborah A. Howatt, Victoria B. Johnson, Lisa R. Tannock, Alan Daugherty, Julie S. Pendergast

Saha Cardiovascular Research Center Faculty Publications

Shift work chronically disrupts circadian rhythms and increases the risk of developing cardiovascular disease. However, the mechanisms linking shift work and cardiovascular disease are largely unknown. The goal of this study was to investigate the effects of chronically shifting the light-dark (LD) cycle, which models the disordered exposure to light that may occur during shift work, on atherosclerosis. Atherosclerosis is the progressive accumulation of lipid-filled lesions within the artery wall and is the leading cause of cardiovascular disease. We studied ApolipoproteinE-deficient (ApoE−/−) mice that are a well-established model of atherosclerosis. Male and female ApoE−/− mice were housed in control 12L:12D …

Cervical Spinal Cord Injury Leads To Injury And Altered Metabolism In The Lungs, Emily E. Huffman, Brittany E. Dong, Harrison A. Clarke, Lyndsay E. A. Young, Matthew S. Gentry, Derek B. Allison, Ramon C. Sun, Christopher M. Waters, Warren J. Alilain

Saha Cardiovascular Research Center Faculty Publications

High-cervical spinal cord injury often disrupts respiratory motor pathways and disables breathing in the affected population. Moreover, cervically injured individuals are at risk for developing acute lung injury, which predicts substantial mortality rates. While the correlation between acute lung injury and spinal cord injury has been found in the clinical setting, the field lacks an animal model to interrogate the fundamental biology of this relationship. To begin to address this gap in knowledge, we performed an experimental cervical spinal cord injury (N = 18) alongside sham injury (N = 3) and naïve animals (N = 15) to assess lung injury …

Ferric Chloride-Induced Arterial Thrombosis And Sample Collection For 3d Electron Microscopy Analysis, Smita Joshi, Alexis N. Smith, Kanakanagavalli Shravani Prakhya, Hammodah Rawhi Hammodah Alfar, Joshua Lykins, Ming Zhang, Irina D. Pokrovskaya, Maria A. Aronova, Richard D. Leapman, Brian Storrie, Sidney W. Whiteheart

Saha Cardiovascular Research Center Faculty Publications

Cardiovascular diseases are a leading cause of mortality and morbidity worldwide. Aberrant thrombosis is a common feature of systemic conditions like diabetes and obesity, and chronic inflammatory diseases like atherosclerosis, cancer, and autoimmune diseases. Upon vascular injury, usually the coagulation system, platelets, and endothelium act in an orchestrated manner to prevent bleeding by forming a clot at the site of the injury. Abnormalities in this process lead to either excessive bleeding or uncontrolled thrombosis/insufficient antithrombotic activity, which translates into vessel occlusion and its sequelae. The FeCl3-induced carotid injury model is a valuable tool in probing how thrombosis initiates and progresses …

Dean's Update, March 2023, Jerry L. Nadler

SOM Dean's Research Newsletter

No abstract provided.

Sleep Duration, Hypnotic Drug Use, And Risk Factors: Cross- Sectional Study, Nazanin Jalali, Parvin Khalili, Zahra Jamali, Zahra Jalali, Amir Moghadam-Ahmadi, Alireza Vakilian, Fatemeh Ayoobi

Department of Neurology Faculty Papers

Both short sleep duration (SSD) and long sleep duration (LSD) are associated with an increased risk of morbidity and mortality. Here, we aimed to assess the prevalence of sleep duration disturbances among adults in association with demographic, medication use, personal habits, and chronic diseases, while also considering the impact of hypnotic drug use. We performed a cross-sectional study of 9991 adult participants of the Rafsanjan Cohort Study (RCS), as part of the Prospective epidemiological research studies in Iran (PERSIAN). Multivariate logistic regression analyses were conducted to assess the association between short (< 6 h) and long (> 9 h) sleep duration with demographic and lifestyle …

Identifying A Clinical Informatics Or Electronic Health Record Expert Witness For Medical Professional Liability Cases, Dean F Sittig, Adam Wright

Faculty, Staff and Student Publications

BACKGROUND: The health care field is experiencing widespread electronic health record (EHR) adoption. New medical professional liability (i.e., malpractice) cases will likely involve the review of data extracted from EHRs as well as EHR workflows, audit logs, and even the potential role of the EHR in causing harm.

OBJECTIVES: Reviewing printed versions of a patient's EHRs can be difficult due to differences in printed versus on-screen presentations, redundancies, and the way printouts are often grouped by document or information type rather than chronologically. Simply recreating an accurate timeline often requires experts with training and experience in designing, developing, using, and …

Expansion Of The Genotypic And Phenotypic Spectrum Of Ctcf-Related Disorder Guides Clinical Management: 43 New Subjects And A Comprehensive Literature Review, Hannah Gabriela Valverde De Morales, Hsiao-Lin V Wang, Kathryn Garber, Xiaodong Cheng, Victor G Corces, Hong Li

Faculty, Staff and Student Publications

Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD is needed. Here, we examined the clinical features, including facial profiles, and genotypic spectrum of 107 subjects with identified CTCF variants, including 43 new and 64 previously described subjects. Among the 43 new subjects, 23 novel variants were reported. The cardinal clinical features in subjects with …