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2022

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Articles 22891 - 22920 of 23775

Full-Text Articles in Medicine and Health Sciences

Usage Of Scales To Guide Psychiatrist Clinical Judgment For Patients Receiving Electroconvulsive Therapy, Vivek Gorijala, Katherine B. Martin Md Jan 2022

Usage Of Scales To Guide Psychiatrist Clinical Judgment For Patients Receiving Electroconvulsive Therapy, Vivek Gorijala, Katherine B. Martin Md

USF-LVHN SELECT

No abstract provided.


Sex Differences In Patients With Suicidal Intent That Are Managed By Toxicologists: An Analysis Of The Toxicology Investigators’ Consortium (Toxic) Registry, Gillian A. Beauchamp Md, Jacob Fishbein, Gregory A. Makar, Rita Pechulis Md, Fccp, Matthew D. Cook Do, Robert D. Cannon Do, Kenneth D. Katz Md, Hope Kincaid Mph, Cph, Jennifer L. Carey, Marna R. Greenberg Do, Mph, Facep Jan 2022

Sex Differences In Patients With Suicidal Intent That Are Managed By Toxicologists: An Analysis Of The Toxicology Investigators’ Consortium (Toxic) Registry, Gillian A. Beauchamp Md, Jacob Fishbein, Gregory A. Makar, Rita Pechulis Md, Fccp, Matthew D. Cook Do, Robert D. Cannon Do, Kenneth D. Katz Md, Hope Kincaid Mph, Cph, Jennifer L. Carey, Marna R. Greenberg Do, Mph, Facep

USF-LVHN SELECT

No abstract provided.


Pre-Procedural Evaluation And Optimization: National And Local Approaches To Performance Improvement, Matthew Fitzsimmons, Thomas A. Mcloughlin Md, Matthew Mccambridge Md, Michael D. Pasquale Md, Facs, Fccm, James Miller Crna, Andrew Aspen Crna, Tammy Gallagher Rn, Amy M. Depuy Md, Kristen Karwacki Pa-C Jan 2022

Pre-Procedural Evaluation And Optimization: National And Local Approaches To Performance Improvement, Matthew Fitzsimmons, Thomas A. Mcloughlin Md, Matthew Mccambridge Md, Michael D. Pasquale Md, Facs, Fccm, James Miller Crna, Andrew Aspen Crna, Tammy Gallagher Rn, Amy M. Depuy Md, Kristen Karwacki Pa-C

USF-LVHN SELECT

No abstract provided.


Impact Of Metformin On Statin Persistence, Byron Cheon, Ambuj Kumar Md, Mph, Athanasios Tsalatsanis, Kevin Cowart, Ronald Magness, Srinivas Tipparaju, Nicholas Carris Jan 2022

Impact Of Metformin On Statin Persistence, Byron Cheon, Ambuj Kumar Md, Mph, Athanasios Tsalatsanis, Kevin Cowart, Ronald Magness, Srinivas Tipparaju, Nicholas Carris

USF-LVHN SELECT

No abstract provided.


Accuracy, Resource Utilization, And Sex And Race Differences Of Myocardial Infarction (Mi) Alerts: A Single-Center Experience In The Application Of A Pre-Hospital Personnel Electrocardiogram (Ecg) Education And Transmission Intervention, Rachael Chaska, Jeanne L. Jacoby Md, Bryan D. Nelson Mba, Nr-P, Orlando E. Rivera Rn, Kashyap Kaul Do, Jay Gopal, Christopher Connell Do, Tyler Willing Do, Jessica Jacoby, Ali Yazdanyar Do, Phd, Bruce Feldman Do, Anita Kurt Phd, Rn, Andrew Ferdock, Joanna Schwab, Nicholas S. Imperato, Katelyn Mclain Jan 2022

Accuracy, Resource Utilization, And Sex And Race Differences Of Myocardial Infarction (Mi) Alerts: A Single-Center Experience In The Application Of A Pre-Hospital Personnel Electrocardiogram (Ecg) Education And Transmission Intervention, Rachael Chaska, Jeanne L. Jacoby Md, Bryan D. Nelson Mba, Nr-P, Orlando E. Rivera Rn, Kashyap Kaul Do, Jay Gopal, Christopher Connell Do, Tyler Willing Do, Jessica Jacoby, Ali Yazdanyar Do, Phd, Bruce Feldman Do, Anita Kurt Phd, Rn, Andrew Ferdock, Joanna Schwab, Nicholas S. Imperato, Katelyn Mclain

USF-LVHN SELECT

No abstract provided.


Falls From Homes, It’S Not Just A Window Problem, Julia Vandenheuvel Md, Michele Dunstan, Kyle Shaak Bs, Sarah A. Jones Sapienza Md, Debra Esernio-Jenssen Md Jan 2022

Falls From Homes, It’S Not Just A Window Problem, Julia Vandenheuvel Md, Michele Dunstan, Kyle Shaak Bs, Sarah A. Jones Sapienza Md, Debra Esernio-Jenssen Md

Department of Pediatrics

No abstract provided.


Social Determinants Come To The Hospital: A Qi-Initiative To Address Food Insecurity On An Inpatient Pediatric Unit, Kayle Barndt, Alicia Llewellyn, Anna V. Folk Msn, Msn, Rn, Cpn, Claudia F. Busse Md Jan 2022

Social Determinants Come To The Hospital: A Qi-Initiative To Address Food Insecurity On An Inpatient Pediatric Unit, Kayle Barndt, Alicia Llewellyn, Anna V. Folk Msn, Msn, Rn, Cpn, Claudia F. Busse Md

Department of Pediatrics

No abstract provided.


Evaluation Of Childhood Obesity To Parental Obesity In Rural Fm Clinic, Nancy Bobrysh, Elaine Banerjee Md, Mph Jan 2022

Evaluation Of Childhood Obesity To Parental Obesity In Rural Fm Clinic, Nancy Bobrysh, Elaine Banerjee Md, Mph

Department of Pediatrics

No abstract provided.


A Case Of Polymorphous Low-Grade Neuroepithelial Tumor Of The Young With Polysomy Of Chromosome 1 And 19 Lacking Braf Mutation, Julia Vandenheuvel Md, Daniel Zinn Md Jan 2022

A Case Of Polymorphous Low-Grade Neuroepithelial Tumor Of The Young With Polysomy Of Chromosome 1 And 19 Lacking Braf Mutation, Julia Vandenheuvel Md, Daniel Zinn Md

Department of Pediatrics

No abstract provided.


Total Gastrectomy As Treatment For Hereditary Diffuse Gastric Cancer In Three Adolescent Patients From Two Related Families, Cayanne Liew Do, Jillian R. Grau Md, Danielle A. Ferraguti Do Jan 2022

Total Gastrectomy As Treatment For Hereditary Diffuse Gastric Cancer In Three Adolescent Patients From Two Related Families, Cayanne Liew Do, Jillian R. Grau Md, Danielle A. Ferraguti Do

Department of Pediatrics

No abstract provided.


The Assessment Of Movement Demands And Neuromuscular Fatigue In Female Softball Players, Kathryn Cardwell Jan 2022

The Assessment Of Movement Demands And Neuromuscular Fatigue In Female Softball Players, Kathryn Cardwell

Theses: Doctorates and Masters

Softball has experienced an increase in worldwide popularity over the last 15 years, and it is expected to rise following the reinstatement of softball as an Olympic sport in 2021. Previous softball research has primarily focused on the biomechanical characteristics of its athletes. However, there is a current lack of research concerning the movement demands occurring in gameplay and the development of neuromuscular fatigue in softball players during sportspecific movements, training sessions, or in competition play. Prior research has demonstrated that a majority of power generated during a bat swing or overhand throw comes from the lower body, with the …


Post-Exercise Arterial Stiffness Responses Are Similar After Acute Eccentric And Concentric Arm Cycling, Travis Wakeham, Dakota J. Anderson, Steven J. Elmer, John J. Durocher Jan 2022

Post-Exercise Arterial Stiffness Responses Are Similar After Acute Eccentric And Concentric Arm Cycling, Travis Wakeham, Dakota J. Anderson, Steven J. Elmer, John J. Durocher

Michigan Tech Publications, Part 1

Upper-body resistance exercise effectively increases muscular strength, but may concomitantly increase arterial stiffness. Eccentric exercise can lead to muscle soreness and arterial stiffness in untrained participants. However, it is unclear if upper-body eccentric exercise could reduce arterial stiffness in a single session for participants that have undergone progressive training. Our purpose was to compare acute responses to upper-body eccentric (novel, ECCarm) and concentric (traditional, CONarm) steady state arm cycling. We hypothesized that arm arterial stiffness would be reduced after both ECCarm and CONarm. Twenty-two young healthy individuals performed either ECCarm ( = 11) or CONarm ( = 11) at ~70% …


Comparison Of The Mental Burden On Nursing Care Providers With And Without Mat-Type Sleep State Sensors At A Nursing Home In Tokyo, Japan: Quasi-Experimental Study, Sakiko Itoh, Hwee-Pink Tan, Kenichi Kudo, Yasuko Ogata Jan 2022

Comparison Of The Mental Burden On Nursing Care Providers With And Without Mat-Type Sleep State Sensors At A Nursing Home In Tokyo, Japan: Quasi-Experimental Study, Sakiko Itoh, Hwee-Pink Tan, Kenichi Kudo, Yasuko Ogata

Research Collection School Of Computing and Information Systems

Background: Increasing need for nursing care has led to the increased burden on formal caregivers, with those in nursing homes having to deal with exhausting labor. Although research activities on the use of internet of things devices to support nursing care for older adults exist, there is limited evidence on the effectiveness of these interventions among formal caregivers in nursing homes. Objective: This study aims to investigate whether mat-type sleep state sensors for supporting nursing care can reduce the mental burden of formal caregivers in a nursing home. Methods: This was a quasi-experimental study at a nursing home in Tokyo, …


Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease And Sporadic Cancers, Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann Jan 2022

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease And Sporadic Cancers, Alice F. Bewley, Titilope M. Akinwe, Tychele N. Turner, David H. Gutmann

2020-Current year OA Pubs

No abstract provided.


Estimation And Modulation Of Persistent Inward Currents In Human Spinal Motoneurons, Ricardo Neves De Oliveira Mesquita Jan 2022

Estimation And Modulation Of Persistent Inward Currents In Human Spinal Motoneurons, Ricardo Neves De Oliveira Mesquita

Theses: Doctorates and Masters

The manner in which motoneurons respond to excitatory and inhibitory input depends strongly on how their intrinsic properties are influenced by neuromodulators. Importantly, activation of voltage-gated channels that generate persistent (long-lasting) inward currents (PICs) is crucial for initiation, acceleration, and maintenance of firing. The overall aim of this thesis was to develop new ways to both estimate and modulate PIC contributions to motoneuron firing in humans.

Hypothetically, PIC estimation in humans might be possible by examining muscle force and electromyographic activity responses to tendon vibration superimposed with bursts of neuromuscular electrical stimulation (NMES) in an otherwise-inactive muscle (VibStim). Such activation …


Mazes In Spanish-English Dual Language Learners After Language Enrichment: A Case Study, Casey L. Taliancich-Klinger, Connie Summers, Kai J. Greene Jan 2022

Mazes In Spanish-English Dual Language Learners After Language Enrichment: A Case Study, Casey L. Taliancich-Klinger, Connie Summers, Kai J. Greene

Faculty Publications

ABSTRACTThe number of Spanish-English dual language learners (DLLs) in the United States continues toincrease every year. In the absence of developmental language norms for DLLs it is importantto learn more about typical language production characteristics to distinguish typical fromatypical language characteristics. An area of language production with conflicting results inthe literature is the production of mazes. Mazes are interruptions in the forward flow oflanguage in the form of interjections, repairs or revisions of words and phrases. At elevatedrates, mazes may interrupt the communication process. A common practice in classroomsettings is to provide support for DLLs through small group activities such …


Attachment Theory To Inform Intervention In Correctional Populations With Adverse Childhood Experiences And Substance Use Disorders, Samantha Mendoza Jan 2022

Attachment Theory To Inform Intervention In Correctional Populations With Adverse Childhood Experiences And Substance Use Disorders, Samantha Mendoza

Graduate School of Professional Psychology: Doctoral Papers and Masters Projects

Research shows a correlation exists between Adverse Childhood Experiences (ACEs) and poor mental health such as psychiatric and substance use disorders (Adshead, 2018). Research further suggests a correlation between ACEs and insecure attachment in adults (Adshead, 2018). The National Institute on Drug Abuse (2020) estimates 85% of the correctional population either has a substance use disorder or was incarcerated for a drug-related offense. This paper theorizes that those involved in the correctional system with a history of high ACE scores and substance use also experience insecure attachment, which is not currently addressed in correctional SUD programs. Attachment theory moderates the …


The Effects Of Acute Aerobic Exercise On Motor Cortex Activation And Piano Performance, Maya Deuso Jan 2022

The Effects Of Acute Aerobic Exercise On Motor Cortex Activation And Piano Performance, Maya Deuso

Honors Program Theses

Previous research has shown that an acute (single) bout of aerobic exercise performed immediately before a fine motor task can improve the performance of that particular task as well as alter motor cortex (M1) activation. However, the intensity of exercise may influence the extent of motor skill acquisition and M1 activation. The primary aim of the current investigation was to compare the impact of moderate-intensity training (MIT) and high-intensity interval training (HIIT) on whole-body motor skill acquisition via a piano task. We also aimed to determine if M1 activation was a potential mechanism for any changes in piano performance. Nine …


Best Practice For Treatment And Prevention Of Ankle Sprains In Ballet Dancers, Sara Bergin Jan 2022

Best Practice For Treatment And Prevention Of Ankle Sprains In Ballet Dancers, Sara Bergin

Honors Program Theses

No abstract provided.


Changes In Brain Oxygenation Of Rugby Players Before And After Head Trauma, Megan Benmore Jan 2022

Changes In Brain Oxygenation Of Rugby Players Before And After Head Trauma, Megan Benmore

Honors Program Theses

Clinicians often rely on simple neuropsychological and balance tests to diagnose concussion and determine return to sport. These tests are not fully comprehensive and lack a measure of brain physiology, warranting the need for an objective biomarker, especially in sports with frequent head trauma (e.g., rugby). The high number of concussions occurring in recreational sport necessitates an affordable and accurate biomarker to easily assess the severity of trauma. The purpose of the present study was to address this issue, using functional near-infrared spectroscopy (fNIRS) to assess relative changes in oxyhemoglobin (O2Hb), deoxyhemoglobin (HHb), total hemoglobin (tHb) and hemoglobin …


Loss Of Mmr And Tgfbr2 Increases The Susceptibility To Microbiota-Dependent Inflammation-Associated Colon Cancer, Elena Tosti, Ana S Almeida, Tam T T Tran, Mariel Barbachan E Silva, Pilib Ó Broin, Robert Dubin, Ken Chen, Amanda P Beck, Andrew S Mclellan, Eduardo Vilar, Aaron Golden, Paul W O'Toole, Winfried Edelmann Jan 2022

Loss Of Mmr And Tgfbr2 Increases The Susceptibility To Microbiota-Dependent Inflammation-Associated Colon Cancer, Elena Tosti, Ana S Almeida, Tam T T Tran, Mariel Barbachan E Silva, Pilib Ó Broin, Robert Dubin, Ken Chen, Amanda P Beck, Andrew S Mclellan, Eduardo Vilar, Aaron Golden, Paul W O'Toole, Winfried Edelmann

Faculty, Staff and Student Publications

Background and aims: Mutations in DNA mismatch repair (MMR) genes are causative in Lynch syndrome and a significant proportion of sporadic colorectal cancers (CRCs). MMR-deficient (dMMR) CRCs display increased mutation rates, with mutations frequently accumulating at short repetitive DNA sequences throughout the genome (microsatellite instability). The TGFBR2 gene is one of the most frequently mutated genes in dMMR CRCs. Therefore, we generated an animal model to study how the loss of both TGFBR2 signaling impacts dMMR-driven intestinal tumorigenesis in vivo and explore the impact of the gut microbiota.

Methods: We generated VCMsh2/Tgfbr2 mice in which Msh2loxP and Tgfbr2loxP alleles are …


Recent Advances On Dna Base Flipping: A General Mechanism For Writing, Reading, And Erasing Dna Modifications, Ren Ren, John R Horton, Samuel Hong, Xiaodong Cheng Jan 2022

Recent Advances On Dna Base Flipping: A General Mechanism For Writing, Reading, And Erasing Dna Modifications, Ren Ren, John R Horton, Samuel Hong, Xiaodong Cheng

Faculty, Staff and Student Publications

The modification of DNA bases is a classic hallmark of epigenetics. Four forms of modified cytosine-5-methylcytosine, 5-hydroxymethylcytosine, 5-formylcytosine, and 5-carboxylcytosine-have been discovered in eukaryotic DNA. In addition to cytosine carbon-5 modifications, cytosine and adenine methylated in the exocyclic amine-N4-methylcytosine and N6-methyladenine-are other modified DNA bases discovered even earlier. Each modified base can be considered a distinct epigenetic signal with broader biological implications beyond simple chemical changes. Since 1994, several crystal structures of proteins and enzymes involved in writing, reading, and erasing modified bases have become available. Here, we present a structural synopsis of writers, readers, and erasers of the modified …


A Phase I, Open-Label, Dose-Escalation Study Of The Ox40 Agonist Ivuxolimab In Patients With Locally Advanced Or Metastatic Cancers, Adi Diab, Omid Hamid, John A Thompson, Willeke Ros, Ferry A L M Eskens, Toshihiko Doi, Siwen Hu-Lieskovan, Samuel J Klempner, Bishu Ganguly, Catherine Fleener, Xiao Wang, Tenshang Joh, Ken Liao, Shahram Salek-Ardakani, Carrie Turich Taylor, Jeffrey Chou, Anthony B El-Khoueiry Jan 2022

A Phase I, Open-Label, Dose-Escalation Study Of The Ox40 Agonist Ivuxolimab In Patients With Locally Advanced Or Metastatic Cancers, Adi Diab, Omid Hamid, John A Thompson, Willeke Ros, Ferry A L M Eskens, Toshihiko Doi, Siwen Hu-Lieskovan, Samuel J Klempner, Bishu Ganguly, Catherine Fleener, Xiao Wang, Tenshang Joh, Ken Liao, Shahram Salek-Ardakani, Carrie Turich Taylor, Jeffrey Chou, Anthony B El-Khoueiry

Faculty, Staff and Student Publications

PURPOSE: Stimulation of effector T cells is an appealing immunotherapeutic approach in oncology. OX40 (CD134) is a costimulatory receptor expressed on activated CD4

PATIENTS AND METHODS: Adult patients (

RESULTS: The most common all-causality adverse events were fatigue (46.2%), nausea (28.8%), and decreased appetite (25.0%). Of 31 treatment-related adverse events, 30 (96.8%) were grade ≤2. No dose-limiting toxicities occurred. Ivuxolimab exposure increased in a dose-proportionate manner from 0.3 to 10 mg/kg. Full peripheral blood target engagement occurred at ≥0.3 mg/kg. Three (5.8%) patients achieved a partial response, and disease control was achieved in 56% of patients. Increased CD4

CONCLUSIONS: Ivuxolimab …


Inhibition Of The Cd47-Sirpα Axis For Cancer Therapy: A Systematic Review And Meta-Analysis Of Emerging Clinical Data, Ji Son, Rodney Cheng-En Hsieh, Heather Y Lin, Kate J Krause, Ying Yuan, Amadeo B Biter, James Welsh, Michael A Curran, David S Hong Jan 2022

Inhibition Of The Cd47-Sirpα Axis For Cancer Therapy: A Systematic Review And Meta-Analysis Of Emerging Clinical Data, Ji Son, Rodney Cheng-En Hsieh, Heather Y Lin, Kate J Krause, Ying Yuan, Amadeo B Biter, James Welsh, Michael A Curran, David S Hong

Faculty, Staff and Student Publications

CD47-SIRPα interaction acts as a "don't eat me" signal and is exploited by cancer to downregulate innate and adaptive immune surveillance. There has been intense interest to develop a mechanism of blockade, and we aimed to analyze the emerging data from early clinical trials. We performed a systematic review and meta-analysis of relevant databases and conference abstracts including clinical trials using CD47 and/or SIRPα inhibitors in cancer treatment. Nonlinear mixed models were applied for comparison of response and toxicity. We retrieved 317 articles, 24 of which were eligible. These included 771 response-evaluable patients with hematologic (47.1%) and solid tumors (52.9%). …


Cell-Directed Aptamer Therapeutic Targeting For Cancers Including Those Within The Central Nervous System, Jun Wei, Renduo Song, Aria Sabbagh, Anantha Marisetty, Neal Shukla, Dexing Fang, Hinda Najem, Martina Ott, James Long, Lijie Zhai, Maciej S Lesniak, Charles David James, Leonidas Platanias, Michael Curran, Amy B Heimberger Jan 2022

Cell-Directed Aptamer Therapeutic Targeting For Cancers Including Those Within The Central Nervous System, Jun Wei, Renduo Song, Aria Sabbagh, Anantha Marisetty, Neal Shukla, Dexing Fang, Hinda Najem, Martina Ott, James Long, Lijie Zhai, Maciej S Lesniak, Charles David James, Leonidas Platanias, Michael Curran, Amy B Heimberger

Faculty, Staff and Student Publications

Osteopontin (OPN) is produced by tumor cells as well as by myeloid cells and is enriched in the tumor microenvironment (TME) of many cancers. Given the roles of OPN in tumor progression and immune suppression, we hypothesized that targeting OPN with aptamers that have high affinity and specificity could be a promising therapeutic strategy. Bi-specific aptamers targeting ligands for cellular internalization were conjugated to siRNAs to suppress OPN were created, and therapeutic leads were selected based on target engagement and


Comparison Of Psma-Based 18f-Dcfpyl Pet/Ct And Pelvic Multiparametric Mri For Lesion Detection In The Pelvis In Patients With Prostate Cancer, Trinh T Nguyen, Priya R Bhosale, Guofan Xu, Tinsu Pan, Peng Wei, Yang Lu Jan 2022

Comparison Of Psma-Based 18f-Dcfpyl Pet/Ct And Pelvic Multiparametric Mri For Lesion Detection In The Pelvis In Patients With Prostate Cancer, Trinh T Nguyen, Priya R Bhosale, Guofan Xu, Tinsu Pan, Peng Wei, Yang Lu

Faculty, Staff and Student Publications

Purpose: To directly compare the performance of pelvic mpMRI versus recently approved and increasingly used PSMA-based 18F-DCFPyL PET/CT in intermediate-high risk and biochemical recurrent prostate cancer patient cohort while exploring their potential differing applications in specific clinical scenarios.

Methods: A retrospective analysis was performed on patients who had 18F-DCFPyL PET/CT and pelvic mpMRI done from September 2021 to January 2022 at a single institution. The inclusion criteria were paired exams within a 3-month interval. Exclusion criteria were intervening treatment between exams, a change in PSA by more than 50% and absolute difference more than 1 ng/mL, or concurrent history of …


Checkpoint Inhibitors As Immunotherapy For Fungal Infections: Promises, Challenges, And Unanswered Questions, Sebastian Wurster, Stephanie S Watowich, Dimitrios P Kontoyiannis Jan 2022

Checkpoint Inhibitors As Immunotherapy For Fungal Infections: Promises, Challenges, And Unanswered Questions, Sebastian Wurster, Stephanie S Watowich, Dimitrios P Kontoyiannis

Faculty, Staff and Student Publications

Opportunistic fungal infections have high mortality in patients with severe immune dysfunction. Growing evidence suggests that the immune environment of invasive fungal infections and cancers share common features of immune cell exhaustion through activation of immune checkpoint pathways. This observation gave rise to several preclinical studies and clinical case reports describing blockade of the Programmed Cell Death Protein 1 and Cytotoxic T-Lymphocyte Antigen 4 immune checkpoint pathways as an adjunct immune enhancement strategy to treat opportunistic fungal infections. The first part of this review summarizes the emerging evidence for contributions of checkpoint pathways to the immunopathology of fungal sepsis, opportunistic …


A Yeast Model For Trichohepatoenteric Syndrome Suggests Strong Loss Of Ski2 Function In Most Causative Mutations, Luisa J Orlando, Matthew K Yim, Thomson Hallmark, Michael Cotner, Sean J Johnson, Ambro Van Hoof Jan 2022

A Yeast Model For Trichohepatoenteric Syndrome Suggests Strong Loss Of Ski2 Function In Most Causative Mutations, Luisa J Orlando, Matthew K Yim, Thomson Hallmark, Michael Cotner, Sean J Johnson, Ambro Van Hoof

Faculty, Staff and Student Publications

The intestinal and immune disorder trichohepatoenteric syndrome (THES) is characterized by mutations in human Ski2 and Ski3, also known as SKIV2L and TTC37, respectively. The mechanism by which these mutations leads to the immunodeficiency, chronic diarrhea, failure to thrive and liver disease associated with THES is unknown. To what degree THES patient mutations in Ski2 affect Ski2 function and how the differences in Ski2 function could lead to varying patient outcomes has not been studied. Here, we assayed function of THES ski2 mutants in the yeast homolog. Our results show that most THES patient mutations cause severe dysfunction in Ski2. …


An Autoencoder-Based Deep Learning Method For Genotype Imputation, Meng Song, Jonathan Greenbaum, Joseph Luttrell, Weihua Zhou, Chong Wu, Zhe Luo, Chuan Qiu, Lan Juan Zhao, Kuan-Jui Su, Qing Tian, Hui Shen, Huixiao Hong, Ping Gong, Xinghua Shi, Hong-Wen Deng, Chaoyang Zhang Jan 2022

An Autoencoder-Based Deep Learning Method For Genotype Imputation, Meng Song, Jonathan Greenbaum, Joseph Luttrell, Weihua Zhou, Chong Wu, Zhe Luo, Chuan Qiu, Lan Juan Zhao, Kuan-Jui Su, Qing Tian, Hui Shen, Huixiao Hong, Ping Gong, Xinghua Shi, Hong-Wen Deng, Chaoyang Zhang

Faculty, Staff and Student Publications

Genotype imputation has a wide range of applications in genome-wide association study (GWAS), including increasing the statistical power of association tests, discovering trait-associated loci in meta-analyses, and prioritizing causal variants with fine-mapping. In recent years, deep learning (DL) based methods, such as sparse convolutional denoising autoencoder (SCDA), have been developed for genotype imputation. However, it remains a challenging task to optimize the learning process in DL-based methods to achieve high imputation accuracy. To address this challenge, we have developed a convolutional autoencoder (AE) model for genotype imputation and implemented a customized training loop by modifying the training process with a …


Recurrent Hgnet-Mn1 Altered (Astroblastoma Mn1-Altered) Of The Foramen Magnum: Case Report And Molecular Classification, Sricharan Gopakumar, Malcolm F Mcdonald, Himanshu Sharma, Claudio E Tatsui, Gregory N Fuller, Ganesh Rao Jan 2022

Recurrent Hgnet-Mn1 Altered (Astroblastoma Mn1-Altered) Of The Foramen Magnum: Case Report And Molecular Classification, Sricharan Gopakumar, Malcolm F Mcdonald, Himanshu Sharma, Claudio E Tatsui, Gregory N Fuller, Ganesh Rao

Faculty, Staff and Student Publications

Background: Astroblastoma is a rare primary brain tumor of unclear origin, often occurring in young patients less than 30-years-old. It typically arises supratentorially and is diagnosed based on histological features including vascular hyalinization and perivascular pseudorosettes. Recent molecular characterization of primary CNS high-grade neuroepithelial tumors with meningioma I alteration (HGNET-MN1) found that HGNET-MN1 and tumors with morphological signatures of astroblastoma clustered together. Further analysis revealed such astroblastomas have MN1 alteration and the 2021 WHO classification of tumors of the CNS now recognizes astroblastoma MN1-altered as a new entity.

Case description: Here, we present the case of …