Medicine and Health Sciences Commons^™

Recurrent And Metastatic Head And Neck Cancer: Mechanisms Of Treatment Failure, Treatment Paradigms, And New Horizons, William T. Barham, Marshall Patrick Stagg, Rula Mualla, Michael Dileo, Sagar Kansara

School of Medicine Faculty Publications

Background: Head and neck cancer is a deadly disease with over 500,000 cases annually worldwide. Metastatic head and neck cancer accounts for a large proportion of the mortality associated with this disease. Many advances have been made in our understanding of the mechanisms of metastasis. The application of immunotherapy to locally recurrent or metastatic head and neck cancer has not only improved oncologic outcomes but has also provided valuable insights into the mechanisms of immune evasion and ultimately treatment failure. Objectives: This review paper will review our current understanding of biological mechanisms of treatment failure and metastasis. Published and ongoing …

Can Clinical Findings At Admission Allow Withholding Of Antibiotics In Patients Hospitalized For Community Acquired Pneumonia When A Test For A Respiratory Virus Is Positive?, Ryan Ward, Alejandro J Gonzalez, Justin A Kahla, Daniel M Musher

Faculty, Staff and Students Publications

BACKGROUND: Current guidelines recommend empiric antibiotic therapy for patients who require hospitalization for community-acquired pneumonia (CAP). We sought to determine whether clinical, imaging or laboratory features in patients hospitalized for CAP in whom PCR is positive for a respiratory virus enable exclusion of bacterial coinfection so that antibiotics can be withheld.

METHODS: For this prospective study, we selected patients in whom an etiologic diagnosis was likely to be reached, namely those who provided a high-quality sputum sample at or shortly after admission, and in whom PCR was done to test for a respiratory virus. We performed quantitative bacteriologic studies on …

Dietary Program For The Reduction Of Type 2 Diabetes Prevalence In A South Texas Border Region, Siddiqua Noor

Doctor of Nursing Practice Final Project Abstract

PURPOSE The purpose of this project was to create a culturally sensitive dietary program template to serve as a guide to offer healthier food alternatives to reduce the incidence of type 2 diabetes while not compromising on their Hispanic heritage.

BACKGROUND This project was implemented in a South Texas border community which has nearly twice the national average of Type 2 Diabetes Mellitus, which presents a significant public health challenge.

METHODOLOGY The project followed the Plan-Do-Study-Act cycle and incorporated the Health Belief Model. A dietary pamphlet featuring local culturally relevant food options was developed. The material was presented at two …

A Rare Presentation Of Pseudomonas Putida Bacteremia Secondary To Skin And Soft Tissue Infection, Danielle Rowe, Sachi Patel, Varun Lakhmani, Harsh Patel

Journal of Community Hospital Internal Medicine Perspectives

Pseudomonas putida is a rod-shaped, flagellated, non-lactose fermenting, gram negative bacterium, usually found in water and soil habitats. P. putida generally causes nosocomial infections in immunocompromised patients. Increased infection rates are seen in those patients with medical devices inserted, due to this organism’s innate ability to attach to moist and inanimate objects. In this case report we present a 63-year-old male patient with a past medical history of type II diabetes mellitus, chronic kidney disease stage 5, and hypertension who presented with P. putida cellulitis and bacteremia. This patient had no exposure to contaminated water sources or soil; however, had …

Severe Hypercalcemia Following Hip Joint Implantation Of Calcium Sulfate Antibiotic Beads: Case Series And Review Of Literature., Andrew P. Demidowich, Mahsa Motevalli, Kevin Yi, Atena Kamali, Kristine Batty, Kendall F. Moseley, Robert Raymond Buber, Mehdi Hashemipour`, Mihail Zilbermint

Journal of Community Hospital Internal Medicine Perspectives

Purpose: The diagnosis and management of hypercalcemia in hospitalized patients can be challenging. Hypercalcemia is often associated with significant morbidity and end-organ damage which may delay a patient’s recovery.

Methods: We report a case series of three patients who underwent orthopedic procedures with intraoperative placement of vancomycin-loaded calcium sulfate beads. Patients had no known history of malignancy or excess intake of calcium, vitamin A or vitamin D. Laboratory workup showed low parathyroid (PTH) levels and normal PTH-related peptide levels. The temporal nature of the non-PTH mediated hypercalcemia in relation to implantation of the antibiotic beads suggests causality of exogenous calcium …

Proteus Mirabilis: An Unlikely Device-Related Infection, Mark A. Colantonio, Michelle Hartzell D.O, Brooke Shannon D.O.

Journal of Community Hospital Internal Medicine Perspectives

Implantable cardiac devices, including cardiac pacemakers, are not without risk for infection, carrying a mortality and morbidity of around 5-15%. Gram positive organisms are most common in 91% of cases, whereas gram negative organisms are less common, found in 2% of cases secondary to gram negative organisms other than Pseudomonas aeruginosa. Here, we present a rare case of the gram-negative organism Proteus mirabilis leading to a pacemaker site infection.

Rapid Neurological Decline Due To Creutzfeldt-Jakob Disease, Nicole Tesoro, David Blackwood, Robert Reif, Samuel Miller, Kalyan Paudel, Christopher Haas

Journal of Community Hospital Internal Medicine Perspectives

Creutzfeldt-Jakob Disease (CJD) is an exceedingly rare condition with an incidence of one case per million people worldwide. It is diagnosed with symptoms of rapid neurological decline, positive CSF biomarkers, and diagnostic findings on MRI and EEG. There is no known effective therapy for CJD and prompt diagnosis is required to prepare for the expected disease prognosis and goals of care discussions.

Effectiveness Of Abdominal Breathing Exercise To Control Gastroesophageal Reflux Disease, A Randomized Controlled Trial, Maryam Sadiq, M Shazan Raza, Noman Sadiq, Anum Sadiq, Muniba Zafar, Syed Muhammad Baqir Zaidi, Saima Ambreen

Journal of Community Hospital Internal Medicine Perspectives

Objectives; To determine the effect of actively training the crura of diaphragm which is a part of lower esophageal sphincter using abdominal breathing exercises to treat gastroesophageal reflux disease.

Methodology; With a randomized controlled study design, a total of 22 (11 in each group) clinically diagnosed patients of GERD presenting to the gastroenterology outpatient department at Holy Family Hospital in Pakistan were assessed using GERD related “quality of life index (QoLI)” questionnaire and their on-demand proton pump inhibitors (PPI) usage. Single blinding technique will be used. Patients ages 18 to 60 years with GERD were included. However, those with hiatal …

Serum Lactate Dehydrogenase Levels: The Grim Reaper Sign In Acute Pancreatitis?, George Trad, Jackson Hoekstra, Rakahn Haddadin, John Ryan, Kartika Shetty

Journal of Community Hospital Internal Medicine Perspectives

Background and Aims:

Acute pancreatitis (AP) frequently presents in emergency departments and poses challenges in predicting severity and mortality. Established scoring systems like Ranson criteria, Acute Physiology And Chronic Health Evaluation II (APACHE) II, and Bedside Index of Severity in Acute Pancreatitis (BISAP) have varying effectiveness. Lactate dehydrogenase (LDH), an enzyme released during tissue damage, shows promise as a marker for organ injury in AP. This study aimed to evaluate LDH's potential to predict mortality risk and hospital stay duration in AP patients.

Methods:

A retrospective cohort study analyzed AP cases at HCA Healthcare facilities from January 2011 to January …

Comparison Between Relining Of Ill‑Fitted Maxillary Complete Denture Versus Cad/ Cam Milling Of New One Regarding Patient Satisfaction, Denture Retention And Adaptation, Maha Nagy Kamal

Dentistry

No abstract provided.

Integrative Multiomics Reveals Common Endotypes Across Psen1, Psen2, And App Mutations In Familial Alzheimer's Disease, Phoebe Valdes, Andrew B Caldwell, Qing Liu, Michael Q Fitzgerald, Srinivasan Ramachandran, Celeste M Karch, Dominantly Inherited Alzheimer Network (Dian), Douglas R Galasko, Shauna H Yuan, Steven L Wagner, Shankar Subramaniam

2020-Current year OA Pubs

BACKGROUND: PSEN1, PSEN2, and APP mutations cause Alzheimer's disease (AD) with an early age at onset (AAO) and progressive cognitive decline. PSEN1 mutations are more common and generally have an earlier AAO; however, certain PSEN1 mutations cause a later AAO, similar to those observed in PSEN2 and APP.

METHODS: We examined whether common disease endotypes exist across these mutations with a later AAO (~ 55 years) using hiPSC-derived neurons from familial Alzheimer's disease (FAD) patients harboring mutations in PSEN1

RESULTS: We identified common disease endotypes, such as dedifferentiation, dysregulation of synaptic signaling, repression of mitochondrial function and metabolism, and inflammation. …

Predictive Value Of Fdg Uptake On Pet For Future Immune Checkpoint Inhibitor-Mediated Colitis: A Case Series, Malek Shatila, Kei Takigawa, Yang Lu, Andres Caleb Urias Rivera, Nitish Mittal, Abdullah Sagar Aleem, Sean Ngo, Eric Lu, Deanna Wu, Gabriel Sperling, Sidra Naz, Bryan Schneider, Anusha Shirwaikar Thomas, Yinghong Wang

Faculty, Staff and Student Publications

Objectives: Immune-mediated colitis (IMC) is a common immune-related adverse event during immune checkpoint inhibitor (ICI) therapy. This case series and review aimed to highlight atypical cases of IMC and explore the potential of PET/CT to predict imminent ICI colitis.

Methods: Through a descriptive, retrospective study at a tertiary cancer center, we identified adult patients receiving ICIs for any cancer between 2010 and 2022 who also underwent PET/CT for routine cancer surveillance during this time. We included patients who had signs and symptoms of colitis and reviewed their surveillance PET/CT scans obtained 2 to 6 weeks before and up to 3 …

Heterorepur: Efficient Modeling Of Heterogeneous Disease Graph For Depression Drug Repurposing Using Heterogeneous Graph Neural Networks, Ko-Hong Lin, Tongtong Huang, Kai Zhang, Xiaoqian Jiang, Yejin Kim

Faculty, Staff and Student Publications

Objective Major Depressive Disorder (MDD) is one of the most prevalent psychiatric disorders, yet existing treatments often result in suboptimal responses and encounter high recurrence rate. Repositioning existing medications, which often significantly reduces the required time and budget, has been demonstrated to be a promising strategy for drug discovery of multiple central nervous system (CNS) disorders. However, an efficient modeling strategy of heterogeneous semantic information among biological networks has yet to be developed for drug repurposing.

Material and Methods In this study, we proposed HeteroRepur, by integrating heterogeneous graph neural networks to learn interaction features of Depression Drug Repurposing Graph …

Couple-Based Lifestyle Intervention For Minority Prostate Cancer Survivors: A Randomized Feasibility Trial, Dalnim Cho, Yisheng Li, Karen Basen-Engquist, Chiara Acquati, Nga T T Nguyen, Hilary Ma, Curtis A Pettaway, Lorna H Mcneill

Faculty, Staff and Student Publications

Background: Black and Hispanic prostate cancer (PCa) survivors, who face a high burden of comorbid conditions and often engage in low levels of physical activity and healthy eating, remain significantly underrepresented in lifestyle intervention studies.

Purpose: Given the significance of spousal influence, we developed a culturally tailored lifestyle intervention for these survivors and their spouses and assessed its feasibility, acceptability, and impact on behavioral change.

Methods: Survivor-spouse couples were randomly assigned to an intervention group (n = 22), which received 12 health-coaching calls over 6 months, or a usual-care control group (n = 9). Assessments were conducted at baseline (T1), …

Cyclin E1/Cdk2 Activation Defines A Key Vulnerability To Wee1 Kinase Inhibition In Gynecological Cancers, Daehwan Kim, Heekyung Chung, Wen Liu, Kangjin Jeong, Tugba Y Ozmen, Furkan Ozmen, Matthew J Rames, Sangyub Kim, Xiao Guo, Nathan Jameson, Petrus R De Jong, Steven Yea, Laurie Harford, Jiali Li, Cara A Mathews, Deborah B Doroshow, Vincent J Charles, Doris Kim, Kimberlee Fischer, Ahmed A Samatar, Adrian Jubb, Kevin D Bunker, Kimberly Blackwell, Fiona Simpkins, Funda Meric-Bernstam, Gordon B Mills, Olivier Harismendy, Jianhui Ma, Mark R Lackner

Faculty, Staff and Student Publications

Upregulation of Cyclin E1 and subsequent activation of CDK2 accelerates cell cycle progression from G1 to S phase and is a common oncogenic driver in gynecological malignancies. WEE1 kinase counteracts the effects of Cyclin E1/CDK2 activation by regulating multiple cell cycle checkpoints. Here we characterized the relationship between Cyclin E1/CDK2 activation and sensitivity to the selective WEE1 inhibitor azenosertib. We found that ovarian cancer cell lines with high levels of endogenous Cyclin E1 expression or forced overexpression were exquisitely sensitive to azenosertib and these results extended to in vivo models of ovarian and uterine serous carcinoma. Models with high Cyclin …

Early Treatment Discontinuation In Patients With Deficient Mismatch Repair Or Microsatellite Instability High Metastatic Colorectal Cancer Receiving Immune Checkpoint Inhibitors, Julien Taieb, Margherita Ambrosini, Emily Alouani, Sara Lonardi, Frank A Sinicrope, Marie Decraecker, Alice Boileve, Emilie Hafliger, Thibault Mazard, Simon Pernot, Pauline Parent, Javier Ros, Michael J Overman, Priya Jayachandran, Vincenzo Nasca, Lisa Salvatore, Rosine Guimbaud, Chiara Cremolini, David Tougeron, Filippo Pietrantonio

Faculty, Staff and Student Publications

Background: Immune checkpoint inhibitors (ICIs) are recommended to treat patients with deficient mismatch repair/microsatellite instability high (dMMR/MSI-H) metastatic colorectal cancer (mCRC). Pivotal trials have fixed a maximum ICI duration of 2 years, without a compelling rationale. A shorter treatment duration has the potential to improve patients' quality of life and reduce both toxicity and cost without compromising efficacy. Here we examine whether early treatment discontinuation (ETD) before 13 months in patients without progressive disease (PD) can lead to similar long-term disease control compared with a longer treatment duration (LTD).

Methods: To assess whether ETD is associated with similar outcomes compared …

Us Military Veterans’ Perceived Concordance With Their Providers Regarding Persistent Physical Symptoms Prospectively Predicts Satisfaction With Care And Adherence To Care Plans, L Alison Phillips, Laura M Lesnewich, Katharine Bloeser, Yong Lin, Rachel L Boska, Justeen K Hyde, Peter J Bayley, Helena K Chandler, Matthew J Reinhard, Susan L Santos, Rachel Stewart, Drew A Helmer, Lisa M Mcandrew

Center for Medical Ethics and Health Policy Staff Publications

Background: Medically unexplained, persistent physical symptoms and syndromes are commonly seen in primary care. These are debilitating for patients and difficult to treat, causing frustration for patients and providers.

Purpose: This study investigates how well US military veterans with multiple persistent physical symptoms (PPS), called Gulf War illness (GWI), agree with their healthcare providers about their illness. This agreement, called perceived concordance, is hypothesized to influence veterans' satisfaction with care, adherence to care plans, and disability levels.

Methods: Participants were 230 veterans with GWI deployed to the 1990-1991 Gulf War who were recruited from Veteran Affairs primary care and War …

Effect Of Feeding Fenugreek Extract And Encapsulated Lecithin On Finishing Cattle Performance, Carcass Characteristics, And Liver Abscesses, Sofia Suarez Lorences, Rebecca L. Mcdermott, Joshua R. Benton, Robert Bondurant, Willard Lemaster, James C. Macdonald, Galen E. Erickson

Nebraska Beef Cattle Reports

Summary with Implications

A feedlot study was conducted to evaluate the effects of adding fenugreek extract and encapsulated lecithin (Furst-McNess Company, Rockford, Illinois, United States) on finishing cattle performance, carcass characteristics, and liver abscesses. Treatments were applied as a 2×2 factorial that included a control diet with no additive; a diet containing fenugreek extract; a diet containing encapsulated lecithin; and a diet containing both fenugreek extract and encapsulated lecithin. Tylosin was not included in any diets to test natural occurrence of liver abscesses. No interactions were observed between fenugreek extract and encapsulated lecithin treatments but neither feed additive impacted intakes, …

Effects Of Allocation Frequency On Cattle Performance And Forage Utilization When Swath Grazing A Sorghum-Sudangrass Hybrid In Eastern Nebraska, Thomas E. Aquino, Mary E. Drewnoski, Pedro Henrique J. Fernandes

Nebraska Beef Cattle Reports

Summary with Implications

A sorghum-sudangrass hybrid was swath grazed by growing steers (529 ± 18 lb) from November 2023 to January 2024. Treatments were offering new forage once (1X) or twice (2X) per week to determine the effect of allocation frequency on animal performance and forage utilization. Average daily gain was not impacted by treatment (1X = 0.45 ± 0.1 lb/day, 2X = 0.45 ± 0.1 lb/day). Pre-and post-graze biomass samples were collected to estimate forage utilization, which was not different between treatments (1X = 57.1 ± 3.6%, 2X = 61.1 ± 3.6%). However, there was a difference in carrying …

Risk Factors Which Effect The Maturity Of Placenta, Eftkar Hamza Skair, Saadya Hadi Humade, Rania Abd Elmohsen Abo El Nour, Maryam Amer Ajam

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Back ground Proper placental development is essential for a successful pregnancy. An important organ, the placenta carries out several physiological, immunological, and endocrine functions. It also performs vital roles in mediating the exchange of gasses, nutrients, and waste products between the fetal circulation and the physically separate mother circulation.

Aims: The purpose of the study was to evaluate how placental maturity affected the outcomes of pregnancies in Babylon City.

Setting and design: A Babylon City private clinic, a purposefully selected sample of one hundred pregnant patients who received a diagnosis at the private clinic.

Method, material: from medical records, …

Instruction Program For Patients With Cholecystectomy Regarding Nutritional Knowledge, Haider Naiser Mousa, Huda Baqir Hassan

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

The primary objective of this study is to assess the level of patients' understanding of the educational program following cholecystectomy. Additionally, the study attempts to determine the correlation between patients' knowledge and their socio-demographic factors. A quasi-experimental design study was conducted at AL Imam Sadiq Teaching Hospital. The study employed a non-probability selection method, namely selecting 30 patients for the study group and 30 patients for the control group. The instrument consists of 14 items. The validity of the questionnaire was assessed by a panel of 11 experts. The reliability of the questionnaire was determined by calculating the Alpha Correlation …

Preparation And Characterization Using A New Schiff Base Ligand Derived From Benzoyl Isothiocyanate With Their Complexes And Study Of Their Biological Activity, Zaynab Faleh Ai-Janahi, Mohammed Hamid Said

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Complexes containing Nickel, Copper, and Zinc salts were prepared and studied in this study. Additionally, novel Schiff Base ligands were synthesized by reacting 6-aminopenicillinic acid with benzoyl isothiocyanate to produce L. The synthesized ligand was evaluated by physical measures and spectroscopic methods such as Fourier transform infrared spectroscopy, nuclear magnetic resonance, ultraviolet-visible light, mass spectroscopy, and micro elemental analysis. Metal salts of (Ni(II), Cu(II), and Zn(II)) were combined with novel ligands at a molar ratio of 1:2 [M:L] to prepare the complexes. Spectroscopic, magnetic susceptibility, molar conductivity, atomic absorption, and DTA methods were used to study the complexes that were …

Diclofenac: A Review On Its Synthesis, Mechanism Of Action, Pharmacokinetics, Prospect And Environmental Impact, Hind A. Satar, Emad Yousif, Ahmed Ahmed

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Diclofenac, potent a nonsteroidal anti-inflammatory drug, used in the treatment of inflammation, pain and fever associated with a wide range of disease condition. This review article focuses the synthesis, mechanism of action, pharmacokinetics and derivatives of diclofenac and also highlights advances in the possible use of diclofenac in treating other condition outside its current clinical therapeutic use as an analgesic, anti-inflammatory and antipyretic agent as well the prospect of drug repurposing of diclofenac for treatment of disease like cancer. It further highlights the adverse effect of the drug as an emerging contaminant in the environment. Diclofenac acts by inhibition of …

Impact Of An Educational Program On Nurses' Knowledge Of Poisoning Management: A Quasi-Experimental Study, Ammar Ahmed Hatem, Tahseen Rajab Muhammad

Al-Mustaqbal Journal of Pharmaceutical and Medical Sciences

Background: Despite the critical role nurses play in managing poisoning cases, gaps in their knowledge can hinder patient outcomes. An educational program may address this deficit, but its effectiveness on nurses’ knowledge in poisoning management remains to be systematically evaluated.

Objectives:

This study aimed to examine the effect of an educational program on nurses’ knowledge of poisoning management.

Methods:

A quasi-experimental study with a pre- and post-test design was conducted on 80 nurses working in an emergency department (ED) in Al-Qādisiyyah Governorate, Iraq. The 80 nurses were randomly allocated into two groups of 40 to either receive the …

A Prospective, Multicenter Analysis Of The Integrated 31-Gene Expression Profile Test For Sentinel Lymph Node Biopsy (I31-Gep For Slnb) Test Demonstrates Reduced Number Of Unnecessary Slnbs In Patients With Cutaneous Melanoma., J Michael Guenther, Andrew Ward, Brian J Martin, Mark Cripe, Rohit Sharma, Stanley P Leong, Joseph I Clark, John Hamner, Timothy Beard

Oncology Articles

BACKGROUND: National Comprehensive Cancer Network guidelines recommend sentinel lymph node biopsy (SLNB) for patients with > 10% risk of positivity, consider SLNB with 5-10% risk, and foregoing with <  5% risk. The integrated 31-gene expression profile (i31-GEP) algorithm combines the 31-GEP with clinicopathologic variables, estimating SLN positivity risk.

METHODS: The i31-GEP SLNB risk prediction accuracy was assessed in patients with T1-T2 tumors enrolled in the prospective, multicenter DECIDE study (n = 322). To determine if incorporating the i31-GEP into decision-making resulted in fewer SLNBs performed, propensity score-matching was performed to a non-overlapping cohort for whom the 31-GEP was not used for SLNB decision-making.

RESULTS: No patients with <  5% i31-GEP predicted risk had a positive SLNB (0/35). Propensity matching demonstrated an 18.5% reduction in SLNBs performed (43.7% vs. 62.2%. p <  0.001). The i31-GEP could have reduced the number of unnecessary biopsies by 25.0% (35/140).

CONCLUSIONS: This prospective study confirmed the performance and clinical utility of the i31-GEP for …

Chronic Heavy Alcohol Intake And Liver-Specific Lrp-1 Reduction Increase Amyloidosis In Alzheimer’S Disease Mice, Devaraj V. Chandrashekar, G. Chuli Roules, Ross A. Steinberg, Urvashi R. Panchal, Nataraj Jagadeesan, Adenike Oyegbesan, Trinh Roselyn, Joshua Yang, Sharda R. Bhagwat, Hiya Rakholia, Rutvi D. Mevawala, Moom Roosan, Derick Han, Rachita K. Sumbria

Pharmacy Faculty Articles and Research

Background

Chronic heavy alcohol drinking may be a modifiable risk factor for Alzheimer’s disease (AD), but studies in rodent AD models more closely mimic chronic moderate alcohol drinking in humans and largely focus on the brain. The role of the liver, which is significantly impacted by chronic heavy alcohol intake, in driving brain changes in alcohol-dependent AD remains unexplored. Our study using intragastric-ethanol feeding, which mimics chronic heavy alcohol intake in humans, in C57BL/6J mice showed significant AD-relevant changes in the brain and liver. Therefore, we aimed to investigate how hepatic changes using this model of chronic heavy drinking drive …

Faecal Excretion Of Thorium By Norm Workers, Gregory S. Hewson, Martin Ralph, Marcus Cattani

Research outputs 2022 to 2026

Exposure to thorium-bearing dust in industries handling and processing monazite and other minerals can pose radiological risks to workers. This study aimed to reassess historical faecal bioassay data collected over 10 d from two monazite plant workers using updated biokinetic and dosimetric models. Another objective was to evaluate the feasibility of faecal thorium bioassay for contemporary operations involving naturally occurring radioactive materials (NORM). The retrospective analysis found that the bioassay-derived thorium intakes were significantly higher than those estimated via personal air sampling. The effective dose estimates for the two workers were similar and ranged from 0.95 to 2.40 mSv over …

Detection Of Clinically Relevant Monogenic Copy-Number Variants By A Comprehensive Genome-Wide Microarray With Exonic Coverage, Matthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, Lance Cooper, Patricia A Ward, Bo Yuan, Chad Shaw, Paweł Stankiewicz, Sau Wai Cheung, Liesbeth Vossaert, Yue Wang, Nichole M Owen, Janice Smith, Carlos A Bacino, Katharina V Schulze, Weimin Bi

Faculty, Staff and Students Publications

Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect due to their small sizes.

Methods: A custom comprehensive CMA (Baylor College of Medicine - BCM v11.2) containing 400k probes and featuring exonic coverage for >4200 known or candidate disease-causing genes was utilized for the detection of CNVs at single-exon resolution. CMA results across a consecutive clinical cohort of more than 13 000 patients referred for genetic investigation at Baylor Genetics were examined. The genomic characteristics of CNVs impacting single …

Rethinking The Rise Of Early-Onset Gastrointestinal Cancers: A Call To Action, Benjamin A Weinberg, Caitlin C Murphy, David R Freyer, K Leigh Greathouse, Jan K Blancato, Elena M Stoffel, Julia L Drewes, Anne Blaes, John M Salsman, Y Nancy You, Hannah Arem, Reetu Mukherji, Priyanka Kanth, Xin Hu, Anne Fabrizio, Marion L Hartley, Marios Giannakis, John L Marshall

Faculty, Staff and Student Publications

Since the early 1990s, there has been a dramatic rise in gastrointestinal cancers diagnosed in patients under age 50 for reasons that remain poorly understood. The most significant change has been the increase in incidence rates of early-onset colorectal cancer, especially rates of left-sided colon and rectal cancers. Increases in gastric, pancreatic, and other gastrointestinal cancer diagnoses have further contributed to this trend. We formed a multidisciplinary Think Tank to develop a strategic, coordinated approach to studying early-onset gastrointestinal cancers. This area of research is challenging given multifactorial etiologies. We focused on epidemiology and the environment, the microbiome, and survivorship …

Comprehensive Characterization Of The Transcriptional Landscape In Alzheimer’S Disease (Ad) Brains, Chengxuan Chen, Zhao Zhang, Yuan Liu, Wei Hong, Hande Karahan, Jun Wang, Wenbo Li, Lixia Diao, Meichen Yu, Andrew J Saykin, Kwangsik Nho, Jungsu Kim, Leng Han

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is the leading dementia among the elderly with complex origins. Despite extensive investigation into the AD-associated protein-coding genes, the involvement of noncoding RNAs (ncRNAs) and posttranscriptional modification (PTM) in AD pathogenesis remains unclear. Here, we comprehensively characterized the landscape of ncRNAs and PTM events in 1460 samples across six brain regions sourced from the Mount Sinai/JJ Peters VA Medical Center Brain Bank Study and Mayo cohorts, encompassing 33,321 long ncRNAs, 92,897 enhancer RNAs, 53,763 alternative polyadenylation events, and 900,221 A-to-I RNA editing events. We additionally identified 25,351 aberrantly expressed ncRNAs and altered PTM events associated with AD …