Medical Sciences Commons^™

Immunohistochemical Expression Of Ezh2 In Mucoepidermoid Carcinoma Of Salivary Glands, Amira A. Mansour, Mona M. Ibrahim, Ahmed E. Ahmed, Azza A. El Sissi

Mansoura Journal of Dentistry

Objective: To disclose the variation in EZH2 expression among the different grades of MEC and to analyze the marker's immunohistochemical (IHC) expression in relation to the clinicopathologic data of all cases. Material and methods: The present study was conducted on 15 blocks diagnosed as MEC including equal numbers of different grades. These blocks were selected from the archives of the Oncology Center, Mansoura University. The specimens embedded in the retrieved paraffin blocks were all fixed in 10% formalin. Sections of 4 microns’ thickness intervals were serially cut and prepared for the EZH2 staining. Chi-square, Monte Carlo, and Fisher Exact tests …

Effect Of Food Simulating Solvents On Surface Roughness And Microhardness Of Bulk Fill Resin Composites., Hadeer M. Hal, Ashraf I. Ali, Noha A. El-Wassefy, Marmar A. Montaser

Mansoura Journal of Dentistry

Objectives: To evaluate the effect of food simulating solvents on surface roughness and microhardness of bulk fill resin composites in-vitro. Materials and methods: A total of 180 discs were made with (Filtek One bulk fill, REVEAL HD and x-tra fil bulk fill (n=60). The baseline data of surface roughness and microhardness measurements were recorded. Each group was divided into three subgroups, subgroup1 was immersed into methyl ethyl ketone (n=20), subgroup2 was immersed into ethanol (n=20) and, subgroup3 was immersed into artificial saliva (n=20) as control group. After 30 days, half of each subgroup was tested for surface roughness (n=10) by …

Mdpb-Containing Self-Etch Dental Adhesive: Antibacterial Activity And Effect Of Different Dentinal Surface Preparation, Sally N. Zaki, Ragy N. Saad, Hamdi H. Hamdan, Salah H. Mahmoud

Mansoura Journal of Dentistry

Objective: To evaluate the effect of MDBP-containing self-etch (SE) adhesive and different dentin surface pretreatments on antibacterial activity Materials and Methods: A total of forty disc shaped specimens fabricated (8 mm in diameter and 1.5 mm thickness) were divided into four main groups according to type of the surface treatment method; deionized water(control), CHX, Papin enzyme and Riboflavin. Each group was sub-divided into 2subgroups (n=5) according to the type of adhesive: classic or MDPB containing SE adhesives. Bonded specimens were stored in deionized water for 24 hr. (n=6). The plates contained dices shaped specimen was incubated at 37o C for …

Comparing Shaping Ability Of Fanta, Onecurve, And Protaper Next Ni-Ti Rotary Files Systems., Soliman N. Mansour, Maram Obeid, Tariq Yehia

Mansoura Journal of Dentistry

Objective: To compare the shaping ability of Fanta, One Curve, and Pro Taper Next Ni-Ti rotary file systems. Materials and Methods: Sixty Mandibular molars with mesiobuccal canals with curvatures ranging between 20° and 40° were divided into three groups of 20 teeth each. a group for each system as follows: group 1 was prepared by Fanta file system, group 2 was prepared by Pro Taper Next file system, and group 3 was prepared by One Curve file system. The measuring of canal curvatures was determined by Schneider's method using standardized periapical radiographs and the Image J software. Pre and post-CBCT …

Comparative Study Of Protrusive Record Accuracy With And Without George Gauge For Dentulous Cases, Aisha Z. Mostafa, Noha H. El-Shaheed

Mansoura Journal of Dentistry

Objective: This study aimed to evaluate the accuracy of the George gauge in protrusive records. Materials and Methods: This clinical trial includes a total of 12 dentulous subjects aged 20 to 40 years with no signs of muscular disease or temporomandibular joint disorders were chosen. For each patient, two different protrusive records were created, one with and one without the George gauge, using polyvinyl siloxane materials. The accuracy of these two protrusive records was evaluated by measuring the amount of midline shift in both records with a digital calliper. Then these Protrusive records were used to programme the articulator and …

Soft Metal Versus Laser Melting Metal Framework Used For Mandibular All On Four Implant Supported Fixed Complete Denture, Noha H. Rashed, Noha H. El Shaheed, Wael M. Said Ahmed, Salah A. Hegazy

Mansoura Journal of Dentistry

Objective: To radiographically evaluate the peri-implant bone height changes eri-implantin mandibular all on-four implant supported fixed complete denture (ISFCD) regarding metal framework fabrication technique either with milling from soft metal block or additive manufacturing using laser melting. Materials and Methods: Ten completely edentulous patients were rehabilitated with mandibular all on-four ISFCD. Computer-guided surgical procedures were followed for placement of implants. Patients were allocated randomly into two groups according to the framework fabrication technique. Group I frameworks were milled from soft metal block and group II frameworks were fabricated with additive manufacturing using laser melting. Vertical bone height changes around supporting …

Development And Control Of A Pediatric Lower Limb Exoskeleton For Gait Guidance, Anthony Clarence Goo

ETD Archive

Several genetic, developmental and neurological disorders can cause various levels of gait impairment in the pediatric population. Powered lower limb orthoses, or exoskeletons, have recently been used to address gait impairment and afford therapists alternative solutions and strategies for gait therapy. Most exoskeleton research has focused on the adult population while the pediatric population remains underserved. The limitations of current pediatric exoskeletons make them impractical for use in both community and clinical settings. Furthermore, exoskeleton controllers suitable for these environments should promote human volitional control while guiding the subject towards a dynamically stable healthy gait pattern.

This dissertation presents the …

Patient Care Management Of Hypertension Through Improving Follow-Up And Reducing Missed Appointments In A Primary Care Clinic: A Qi Project, Victoria Idubor

Doctor of Nursing Practice

Background. Missed follow-up appointments constitute significant problems clinics and health centers face nationwide. A significant portion of primary care providers’ patients will require follow-up appointments to manage their chronic illnesses. About 20 to 40% of patients seen at this clinic have a history of hypertension. Uncontrolled hypertension has been shown to increase the risk of certain cardiovascular disease events and mortality. Follow-up appointments are crucial for patients with hypertension to monitor for more life-threatening signs and manage their overall care. Purpose. The purpose of this project is to improve the timely management of care for patients with hypertension …

Apoe Genetics Influence Murine Gut Microbiome, Diana J. Zajac, Stefan J. Green, Lance A. Johnson, Steven Estus

Sanders-Brown Center on Aging Faculty Publications

Apolipoprotein E (APOE) alleles impact pathogenesis and risk for multiple human diseases, making them primary targets for disease treatment and prevention. Previously, we and others reported an association between APOE alleles and the gut microbiome. Here, we evaluated effects of APOE heterozygosity and tested whether these overall results extended to mice maintained under ideal conditions for microbiome analyses. To model human APOE alleles, this study used APOE targeted replacement (TR) mice on a C57Bl/6 background. To minimize genetic drift, homozygous APOE3 mice were crossed to homozygous APOE2 or homozygous APOE4 mice prior to the study, and the resulting …

Sex Differences In The Disease Progression Of Ftd Vs Ad, Abigail Mitchell, Danielle Frances, Chase Metzger

Science University Research Symposium (SURS)

Abigail Mitchell, Danielle Frances, Chase Metzger

Sex Differences in the Disease Progression of FTD vs AD.

Abstract

Neurodegenerative diseases are on the rise in aging populations due to the upper tier of the population getting larger in that age group (Zheng & Chen, 2022). Knowing this, there is great benefit in more accurate and early diagnosis of conditions like frontotemporal dementia (FTD) and Alzheimer’s disease (AD). Particularly, it is important to understand which variables may contribute to differences in disease burden and progression of associated sequalae, with one of those variables being biological sex. The current study investigated sex differences …

Epc-Exs Improve Astrocyte Survival And Oxidative Stress Through Different Uptaking Pathways In Diabetic Hypoxia Condition, Manasi Suchit Halurkar, Jinju Wang, Shuzhen Chen, Ji Chen Bihl

Pharmacology and Toxicology Faculty Publications

Background: Hyperglycemia contributes to cardiovascular complications in patients with type 2 diabetes. We confirmed that high glucose (HG) induces endothelial dysfunction and cerebral ischemic injury is enlarged in diabetic mice. Stem cell-released exosomes have been shown to protect the brain from ischemic stroke. We have previously shown that endothelial progenitor cells (EPCs)-released exosomes (EPC-EXs) can protect endothelial cells from hypoxia/reoxygenation (H/R) and HG-induced injury. Here, we aim to investigate the effects of EPC-EXs on astrocytes under H/R and HG-induced injury and whether miR-126 enriched EPC-EXs (miR126-EPC-EXs) have enhanced efficacy. Methods: EPC-EX uptake and co-localization were measured by fluorescent microscopy using …

Clinical And Patient-Reported Outcomes After Recession Coverage Using Modified Vestibular Incision Subperiosteal Tunnel Access With A Volume-Stable Collagen Matrix As Compared To A Coronally Advanced Flap With A Subepithelial Connective Tissue Graft, Chun-Teh Lee, Marlena Lange, Alain Jureidini, Nurit Bittner, Ulrike Schulze-Späte

Faculty, Staff and Student Publications

Purpose: Coronally advanced split-or full-thickness (CAST or CAFT) flaps in combination with subepithelial connective tissue grafts (SCTGs) are commonly used in root-coverage procedures despite postoperative pain and bleeding from the graft donor site. Therefore, the modified vestibular incision subperiosteal tunnel access procedure (VISTAX) uses a novel collagen matrix (VCMX) instead of autogenous tissue to address the limitations associated with autogenous tissue grafting. This retrospective study compared the clinical outcomes of VISTAX to the results obtained after using a CAST or CAFT flap in combination with SCTG for root coverage.

Methods: Patients with single or multiple adjacent recession I/II defects were …

Dietary And Complementary Feeding Practices Of Us Infants, 6 To 12 Months: A Narrative Review Of The Federal Nutrition Monitoring Data, Regan L Bailey, Jaime S Stang, Teresa A Davis, Timothy S Naimi, Barbara O Schneeman, Kathryn G Dewey, Sharon M Donovan, Rachel Novotny, Ronald E Kleinman, Elsie M Taveras, Lydia Bazzano, Linda G Snetselaar, Janet De Jesus, Kellie O Casavale, Eve E Stoody, Joseph D Goldman, Alanna J Moshfegh, Donna G Rhodes, Kirsten A Herrick, Kristin Koegel, Cria G Perrine, Tusarebecca Pannucci

Children’s Nutrition Research Center Staff Publications

Complementary foods and beverages (CFBs) are key components of an infant’s diet in the second 6 months of life. This article summarizes nutrition and feeding practices examined by the 2020 Dietary Guidelines Advisory Committees during the CFB life stage. Breastfeeding initiation is high (84%), but exclusive breastfeeding at 6 months (26%) is below the Healthy People 2030 goal (42%). Most infants (51%) are introduced to CFBs sometime before 6 months. The primary mode of feeding (ie, human milk fed [HMF]; infant formula or mixed formula and human milk fed [FMF]) at the initiation of CFBs is associated with the timing …

Randomization, Design And Analysis For Interdependency In Aging Research: No Person Or Mouse Is An Island, Daniella E Chusyd, Steven N Austad, Stephanie L Dickinson, Keisuke Ejima, Gary L Gadbury, Lilian Golzarri-Arroyo, Richard J Holden, Yasaman Jamshidi-Naeini, Doug Landsittel, Tapan Mehta, J Michael Oakes, Arthur H Owora, Greg Pavela, Javier Rojo, Michael W Sandel, Daniel L Smith, Colby J Vorland, Pengcheng Xun, Roger Zoh, David B Allison

Children’s Nutrition Research Center Staff Publications

Investigators traditionally use randomized designs and corresponding analysis procedures to make causal inferences about the effects of interventions, assuming independence between an individual's outcome and treatment assignment and the outcomes of other individuals in the study. Often, such independence may not hold. We provide examples of interdependency in model organism studies and human trials and group effects in aging research and then discuss methodologic issues and solutions. We group methodologic issues as they pertain to (1) single-stage individually randomized trials; (2) cluster-randomized controlled trials; (3) pseudo-cluster-randomized trials; (4) individually randomized group treatment; and (5) two-stage randomized designs. Although we present …

International Pooled Patient-Level Meta-Analysis Of Ketamine Infusion For Depression: In Search Of Clinical Moderators, Rebecca B Price, Nicholas Kissel, Andrew Baumeister, Rebecca Rohac, Mary L Woody, Elizabeth D Ballard, Carlos A Zarate, William Deakin, Chadi G Abdallah, Adriana Feder, Dennis S Charney, Michael F Grunebaum, J John Mann, Sanjay J Mathew, Bronagh Gallagher, Declan M Mcloughlin, James W Murrough, Suresh Muthukumaraswamy, Rebecca Mcmillan, Rachael Sumner, George Papakostas, Maurizio Fava, Rebecca Hock, Jennifer L Phillips, Pierre Blier, Paulo Shiroma, Peter Šóš, Tung-Ping Su, Mu-Hong Chen, Mikael Tiger, Johan Lundberg, Samuel T Wilkinson, Meredith L Wallace

Children’s Nutrition Research Center Staff Publications

Depression is disabling and highly prevalent. Intravenous (IV) ketamine displays rapid-onset antidepressant properties, but little is known regarding which patients are most likely to benefit, limiting personalized prescriptions. We identified randomized controlled trials of IV ketamine that recruited individuals with a relevant psychiatric diagnosis (e.g., unipolar or bipolar depression; post-traumatic stress disorder), included one or more control arms, did not provide any other study-administered treatment in conjunction with ketamine (although clinically prescribed concurrent treatments were allowable), and assessed outcome using either the Montgomery-Åsberg Depression Rating Scale or the Hamilton Rating Scale for Depression (HRSD-17). Individual patient-level data for at least …

Identifying And Minimizing Underspecification In Breast Cancer Subtyping, Jonathan Cheuk-Kiu Tang

Master's Theses

In the realm of biomedical technology, both accuracy and consistency are crucial to the development and deployment of these tools. While accuracy is easy to measure, consistency metrics are not so simple to measure, especially in the scope of biomedicine where prediction consistency can be difficult to achieve. Typically, biomedical datasets contain a significantly larger amount of features compared to the amount of samples, which goes against ordinary data mining practices. As a result, predictive models may fail to find valid pathways for prediction during training on such datasets. This concept is known as underspecification.

Underspecification has been more accepted …

Reproducing Statistics Performed In Published Randomized Controlled Trials, Naila H Dhanani, Oscar A Olavarria, Cynthia S Bell, Julie L Holihan, Mike K Liang

Faculty, Staff and Student Publications

INTRODUCTION: Randomized controlled trials (RCT) represent evidence at the lowest potential risk for bias. Clinicians in all specialties depend upon RCTs to guide patient care. Issues such as statistical discordance, or reporting statistical results that cannot be reproduced, should be uncommon. Our aim was to confirm the statistical reproducibility of published RCTs.

METHODS: PubMed was searched using "randomized controlled trial." Studies were selected using a random number generator. Studies were included if the primary outcome could be reproduced using the data and statistical test reported in the manuscript. The reproduced p-value from our analysis and the published p-value were compared. …

Etiology And Pathophysiology Of Hypoparathyroidism: A Narrative Review, Janice L Pasieka, Kelly Wentworth, Caitlin T Yeo, Serge Cremers, David Dempster, Seiji Fukumoto, Ravinder Goswami, Pascal Houillier, Michael A Levine, Jesse D Pasternak, Nancy D Perrier, Antonio Sitges-Serra, Dolores M Shoback

Faculty, Staff and Student Publications

The approach utilized a systematic review of the medical literature executed with specifically designed criteria that focused on the etiologies and pathogenesis of hypoparathyroidism. Enhanced attention by endocrine surgeons to new knowledge about parathyroid gland viability are reviewed along with the role of intraoperative parathyroid hormone (ioPTH) monitoring during and after neck surgery. Nonsurgical etiologies account for a significant proportion of cases of hypoparathyroidism (~25%), and among them, genetic etiologies are key. Given the pervasive nature of PTH deficiency across multiple organ systems, a detailed review of the skeletal, renal, neuromuscular, and ocular complications is provided. The burden of illness …

Unilateral ‘Crazy-Paving’ Pattern: An Exceptional Presentation Of Squamous Cell Carcinoma Of The Lung, Sumeera Banday, Shamim U Khan, Sabina Khan, Surinderpal S Anand, Ashok Shah

Faculty, Staff and Student Publications

The 'crazy-paving' pattern on high resolution computed tomography (HRCT) is a distinct imaging appearance that is still considered to be a radiological hallmark of pulmonary alveolar proteinosis. However, since its first description about three decades ago, more than 40 different clinical entities presenting as 'crazy-paving' patterns have been documented. This rather remarkable but uncommon imaging appearance is now considered to be a non-specific manifestation. A 62-year-old male referred for evaluation of productive cough, breathlessness and fever presented with 'crazy-paving' pattern on HRCT. Endobronchial biopsy done on presentation was consistent with the diagnosis of squamous cell carcinoma. This report highlights this …

Technology-Enhanced In Vivo Exposures In Prolonged Exposure For Ptsd: A Pilot Randomized Controlled Trial, Tanya C Saraiya, Amber M Jarnecke, Alex O Rothbaum, Bethany Wangelin, Lisa M Mcteague, Ron Acierno, Delisa G Brown, Emily Bristol, Hayley Feigl, Mclain Reese, Adam R Cobb, Bill Harley, Robert J Adams, Sudie E Back

Faculty, Staff and Student Publications

In vivo exposures (IVEs) are a key component of exposure-based treatments, during which patients approach fear-provoking, yet safe, situations in "real life." This pilot study assessed the use of a wearable technology (Bio Ware) during IVEs to enhance Prolonged Exposure (PE) therapy for PTSD. Bio Ware provides a clinician dashboard with real-time physiological and subjective data for clinicians to use for virtually guided IVEs. Participants (N = 40) were randomized to a Guided group that received standard PE and virtual, clinician-guided IVEs with the Bio Ware device, or a Non-Guided group that received standard PE and used the Bio Ware …

Single Low-Dose Targeted Bevacizumab Infusion In Adult Patients With Steroid-Refractory Radiation Necrosis Of The Brain: A Phase Ii Open-Label Prospective Clinical Trial, Shervin R. Dashti, Robert J. Kadner, Bradley S. Folley, Jason P. Sheehan, Dong Y. Han, Richard J. Kryscio, Mary B. Carter, Lisa B. E. Shields, Brian M. Plato, Renato V. La Rocca, Aaron C. Spalding, Tom L. Yao, Justin F. Fraser

Sanders-Brown Center on Aging Faculty Publications

OBJECTIVE There is an unmet need for safe and rapidly effective therapies for refractory brain radiation necrosis (RN). The aim of this prospective single-arm phase II trial was to evaluate the safety and efficacy of a single low-dose targeted bevacizumab infusion after blood-brain barrier disruption (BBBD) in adult patients with steroid-refractory brain RN.

METHODS Ten adults with steroid-refractory, imaging-confirmed brain RN were enrolled between November 2016 and January 2018 and followed for 12 months after treatment. Bevacizumab 2.5 mg/kg was administered as a one-time targeted intra-arterial infusion immediately after BBBD. Primary outcomes included safety and > 25% decrease in lesion volume. …

Exploring Risk Factors Of Alzheimer’S Disease Using Mouse Models, Xian Han

Theses and Dissertations (ETD)

Mouse models of Alzheimer’s disease (AD) that accurately recapitulate pathology and molecular changes are crucial for understanding disease mechanisms and subsequent therapeutic development. We examined five commonly used mouse models of AD (5xFAD, J20, APPNL-F, APPNL-G-F, Tau P301S) and compared their whole- and phosphoproteomes with human AD (the integration of three published datasets) to study whether they can mimic protein/RNA expression discrepancies, molecular changes, and enriched pathways found in human AD cases. The mouse models especially 5xFAD and APPNL-G-F show proteomic signatures similar to human AD but lack human-specific AD progressions, such as dysregulation of synaptic pathways and networks. Integration …

Effects Of Ethanol On Glun1/Glun2a And Glun1/Glun2b Nmda Receptor-Ion Channel Gating Kinetics, Robert W. Peoples, Hong Ren

Biomedical Sciences Faculty Research and Publications

Background

The N-methyl-D-aspartate receptor (NMDAR) is a major molecular target of alcohol action in the central nervous system, yet many aspects of alcohol's modulation of the activity of this ion channel remain unclear. We and others have shown that ethanol inhibition of NMDAR involves alterations in gating, especially a reduction in mean open time. However, a full description of ethanol's effects on NMDAR kinetics, including fitting them to a kinetic model, has not been reported.

Methods

To determine ethanol's effects on NMDAR kinetics, we used steady-state single-channel recording in outside-out patches from HEK-293 cells transfected with recombinant GluN1/GluN2A or …

Rare Causes Of Genital Fistula In Nine African Countries: A Retrospective Review, Carrie J. Ngongo, Thomas J.I.P. Raassen, Marietta Mahendeka, Ladeisha Lombard, Jos Van Roosmalen, Marleen Temmerman

Obstetrics and Gynaecology, East Africa

Background: Most genital fistulas result from prolonged, obstructed labor or surgical complications. Other causes include trauma (from accidents, traditional healers, or sexual violence), radiation, carcinoma, infection, unsafe abortion, and congenital malformation.

Methods: This retrospective records review focuses on rare fistula causes among 6,787 women who developed fistula after 1980 and sought treatment between 1994 and 2017 in Tanzania, Uganda, Kenya, Malawi, Zambia, Rwanda, Ethiopia, Somalia, and South Sudan. We compare fistula etiologies across countries and assess associations between rare causes and type of incontinence (urine, feces, or both).

Results: Rare fistula accounted for 1.12% (76/6,787) of all fistulas, including traumatic …

Dean's Update, December 2022, Jerry L. Nadler

SOM Dean's Research Newsletter

No abstract provided.

Facilitation–Inhibition Control Of Motor Neuronal Persistent Inward Currents In Young And Older Adults, Lucas B. R. Orssatto, Gabriel L. Fernandes, Anthony J. Blazevich, Gabriel S. Trajano

Research outputs 2022 to 2026

A well-coordinated facilitation–inhibition control of motor neuronal persistent inward currents (PICs) via diffuse neuromodulation and local inhibition is essential to ensure motor units discharge at required times and frequencies. Present best estimates indicate that PICs are reduced in older adults; however, it is not yet known whether PIC facilitation–inhibition control is also altered with ageing. We investigated the responses of PICs to (i) a remote handgrip contraction, which is believed to diffusely increase serotonergic input onto motor neurones, and (ii) tendon vibration of the antagonist muscle, which elicits reciprocal inhibition, in young and older adults. High-density surface electromyograms were collected …

Examining The Effects Of Npra Antagonist Anantin On Sci-Induced Ployuria., Lindsey Zipperer

Electronic Theses and Dissertations

Polyuria, or the over production of urine, is a prevalent condition that significantly impacts the quality of life in individuals suffering from a spinal cord injury (SCI). Post-SCI induced polyuria is thought to have been associated with altered levels of vasopressin (AVP), atrial natriuretic peptide (ANP), and natriuretic peptide receptor A (NPRA). In the present study, the function of NPRA was analyzed in the rat contusion model using anantin, an NPRA antagonist. A daily dose of either 100 µg of anantin or vehicle was administered intraperitoneally immediately following the SCI surgery and continued until termination, 4 weeks post injury (wpi). …

The Role Of Lipocalin 2 In Type 1 Diabetic Osteopathy, Rawan Mahmoud Bdair

Theses

Lipocalin 2 (LCN2), also known as neutrophil gelatinase-associated lipocalin (NGAL), plays an important role in the innate immune response and functions as a growth factor. The role of LCN2 as an anti-inflammatory protein and its function in bone metabolism is poorly understood. It is hypothesized that the administration of Lipocalin-2 in diabetic and non-diabetic rats will positively improve the bone microstructure. This study investigated the effect of lipocalin2 on bone metabolism in type 1 diabetic osteopathy (T1DO). Three-month-old male Wistar rats (n=24) were obtained from the animal house facility at United Arab Emirates University (UAEU) for this study. All animal …

Benefits Of Early Treatment With Natalizumab: A Real-World Study., Daniel Ontaneda, Ellen M Mowry, Scott D Newsome, Robert T Naismith, Jacqueline Nicholas, Elizabeth Fisher, Carl De Moor, Justin Bohn, Pei-Ran Ho, Al Sandrock, Richard Rudick, James R Williams

Ambulatory and Primary Care Articles

BACKGROUND: The impact of early versus later high-efficacy disease-modifying therapy (DMT) in patients with multiple sclerosis (MS) is uncertain. This study reported the association of early versus later natalizumab treatment with real-world clinical outcomes in MS patients.

METHODS: The study included 661 participants diagnosed with MS in 1994 or later from 7 US centers participating in the MS Partners Advancing Technology for Health Solutions (MS PATHS) network. Time to natalizumab treatment between diagnosis and first infusion (TTNT) was determined from the Tysabri Outreach: Unified Commitment to Health (TOUCH) registry. Clinical outcomes were defined using neuroperformance tests included in the Multiple …

Npgreat: Assembly Of The Human Subtelomere Regions With The Use Of Ultralong Nanopore Reads And Linked Reads, Eleni Adam, Desh Ranjan, Harold Riethman

Computer Science Faculty Publications

Background: Human subtelomeric DNA regulates the length and stability of adjacent telomeres that are critical for cellular function, and contains many gene/pseudogene families. Large evolutionarily recent segmental duplications and associated structural variation in human subtelomeres has made complete sequencing and assembly of these regions difficult to impossible for many loci, complicating or precluding a wide range of genetic analyses to investigate their function.

Results: We present a hybrid assembly method, NanoPore Guided REgional Assembly Tool (NPGREAT), which combines Linked-Read data with mapped ultralong nanopore reads spanning subtelomeric segmental duplications to potentially overcome these difficulties. Linked-Read sets of DNA sequences identified …