Digital Commons Network^™

Intermittent Glucocorticoid Treatment Improves Muscle Metabolism Via The Pgc1Α/Lipin1 Axis In An Aging-Related Sarcopenia Model, Ashok D. Prabakaran, Kevin Mcfarland, Karen Miz, Hima Bindu Durumutla, Kevin Piczer, Fadoua El Abdellaoui Soussi, Hannah Latimer, Cole Werbrich, Hyun-Jy Chung, N. Scott Blair, Douglas P. Millay, Andrew J. Morris, Brendan Prideaux, Brian N. Finck, Mattia Quattrocelli

2020-Current year OA Pubs

Sarcopenia burdens the older population through loss of muscle energy and mass, yet treatments to functionally rescue both parameters are lacking. The glucocorticoid prednisone remodels muscle metabolism on the basis of frequency of intake, but its mechanisms in sarcopenia are unknown. We found that once-weekly intermittent prednisone administration rescued muscle quality in aged 24-month-old mice to a level comparable to that seen in young 4-month-old mice. We discovered an age- and sex-independent glucocorticoid receptor transactivation program in muscle encompassing peroxisome proliferator-activated receptor γ coactivator 1 α (PGC1α) and its cofactor Lipin1. Treatment coordinately improved mitochondrial abundance through isoform 1 and …

Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen

Faculty, Staff and Students Publications

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.

We collected detailed …

Novel Loss-Of-Function Variants Expand Abcc9-Related Intellectual Disability And Myopathy Syndrome, Stephanie Efthymiou, Robert C Tryon, Colin G Nichols, Et Al.

2020-Current year OA Pubs

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harbouring different homozygous loss-of-function variants in ABCC9 and presenting with a conserved range of clinical features. All variants are predicted to result in severe truncations or in-frame deletions within SUR2, leading to the generation of non-functional SUR2-dependent KATP channels. Affected individuals show psychomotor delay and intellectual disability of variable severity, microcephaly, corpus callosum and white matter abnormalities, seizures, spasticity, short stature, muscle …

Sex Differences In Outcomes Among Patients Undergoing Thoracic Endovascular Aortic Repair (Tevar) Procedure: A Retrospective Cohort Study, Dakota B. Pastore, Tony Elias, Rafail Beshai, Kyrillos Girgis, Maziyar Daneshvar, Keith Anacker

Rowan-Virtua Research Day

Introduction: There is limited data about sex differences in patients undergoing a thoracic endovascular aortic repair (TEVAR) procedure. This study sought to examine the national inpatient sample (NIS) database to describe in-hospital outcomes by gender.

Methods: The NIS was searched for hospitalizations of adult patients who underwent TEVAR in 2019 and 2020. For this cohort, female patients were identified, and pregnant patients were excluded. The primary outcome was inpatient mortality. Secondary outcomes included hospital length of stay (LOS), and total hospital charges (TOTHCG).

Results: This study included 696 patients who underwent TEVAR. 255 (36.6%) females were identified, of which, 7 …

The Correlation Of Consistent Exercise With Depressive Symptoms, John Gericke, Tara Pellegrino, Robert Steer

Rowan-Virtua Research Day

Background: Depression is a major health issue that affects an estimated 350 million people worldwide. Typically, depression is associated with individuals who follow a poor diet and are physically inactive. Exercise is one form of treatment for depression and has been shown to reduce the risk of depression and protect against the onset of depression. The PHQ-9 Depression Score is a tool used to screen individuals for depression on a scale from 0-27. The goal of this study is to identify a relationship between consistent exercise and depression symptoms.

Methods: An original Qualtrics survey was created to be distributed with …

Variables Contributing To The Psychosocial Strain On Caregivers Of Patients With Autism Spectrum Disorder, Maduka Gunasinghe, Krisha S. Patel, Usmaan Al-Shehab, Brian Joseph Mathew, Maithri Goud, Andrea Iannuzzelli

Rowan-Virtua Research Day

This research, conducted at the Rowan-Virtua Integrated Special Needs (RISN) Center, Sewell, New Jersey, explores the psychosocial strain on caregivers of patients with Autism Spectrum Disorder (ASD). Utilizing the Caregiver Burden Inventory (CBI), we assessed multiple psychosocial dimensions, including time dependency, emotional health, development, social relationships, and physical health. Data was extracted from a total of 295 patient charts; this poster analyzes the initial sample of 99 patients by incorporating demographic variables and caregiver burden scores into a tailored database for comprehensive analysis. Our findings reveal a statistically significant correlation between the age of patients and increased developmental scores in …

Sex Differences In Outcomes Among Patients Who Underwent Cardiac Ablation: A Retrospective Cohort Study, Tony Elias, Mena Elmalh, Kyrillos Girgis, Taha Syed, Rafail Beshai

Rowan-Virtua Research Day

Background Cardiac ablation, encompassing radiofrequency and cryoablation modalities, is a therapeutic intervention targeting abnormal heart rhythms by disrupting electrical pathways within the heart. Despite its widespread use, research focusing on sex-specific outcomes among patients undergoing cardiac ablation remains limited. Understanding potential sex differences in treatment response and outcomes is crucial for optimizing patient care and outcomes.1,2 Therefore, this retrospective cohort study aimed to analyze the national inpatient sample database to assess in-hospital outcomes among patients undergoing cardiac ablation, specifically focusing on sex disparities.

Methods Data from the National Inpatient Sample (NIS) Database for the years 2019 and 2020 were utilized …

Dermoid Cyst – Presenting With Llq Abdominal Pain, Mohammad A. Rattu, James A. Espinosa

Rowan-Virtua Research Day

Ovarian cysts are fluid-filled structures that may be defined as simple or complex and are often discovered incidentally on imaging. Their etiology can range from physiologically normal (such as follicular or luteal cysts) to ovarian malignancies. They are more common in the reproductive years secondary to endogenous hormonal production however may also occur at any age. Simple cysts more commonly occur among all age groups; mixed cystic and solid and completely solid ovarian lesions however have rates of increased malignancy. The most independent risk factor is age; therefore, post-menopausal women should have proper follow-up secondary to this risk. Some risk …

What Is The Efficacy Of The Newly Developed Hpv Vaccine, Cecolin, In Providing Protection Against Hpv-Induced Cervical Cancers In Females Aged 9-14 Years Old, Yolanda Williams

Rowan-Virtua Research Day

In low to middle income countries, there's a rise in invasive cervical squamous cell carcinoma. Affordability emerges as a crucial factor influencing this trend. This research is based on the development of a new HPV vaccine made in China called Ceolin priced at $47 and its efficacy to be incorporated into the WHO vaccination program. A peer review was conducted based on an ongoing randomized phase 3 clinical trial of a 2 dose regimen bivalent Cecolin vaccine (types 16,18) . The study includes 1025 females aged 9-14 years old split amongst 5 groups. The control group received Gardasil at the …

Sex Differences In Outcomes Among Patients With High-Output Heart Failure: A Retrospective Cohort Study, Tony Elias, Mena Elmalh, Priya Brahmbhatt, Kyrillos Girgis, Taha Syed, Michael Valderrama, Rafail Beshai

Rowan-Virtua Research Day

❖ There is limited data specifically looking for sex differences in patients with high output heart failure (HOHF).

❖ We sought to examine the national inpatient sample database to describe in-hospital outcomes among female patients.

Facial Skincare Routine Adherence In The General Population, Leah Cliatt, Joanna Petrides

Rowan-Virtua Research Day

Background: The COVID-19 pandemic sparked an interest in skincare with the closure of spas and salons. “Skincare”, one of the most popular dermatology related hashtags on TikTok in July 2020 received 378 million views. The American Academy of Dermatology (AAD) has shared facial cleansing recommendations; however, it is unclear how many people follow them. Studies have shown a good daily facial cleansing and moisturizing routine can increase microbiome diversity and skin hydration. This can be beneficial in conditions like psoriasis, eczema, and acne.

Purpose: The aim of the study is to assess how well people follow the AAD …

Investigating The Efficacy Of Myo-Inositol In Adolescents With Polycystic Ovary Syndrome: A Scoping Review, Mariam Sharobeem

Rowan-Virtua Research Day

Polycystic ovary syndrome (PCOS) affects approximately 6 to 13% of adolescent girls in the United States.6 PCOS poses difficulty with diagnosing and treatment with adolescents as its symptoms are heterogenous and are often rationalized with other diagnoses. Key diagnostic features of PCOS include irregular menstruation, infertility, obesity, hirsutism, increased risk of diabetes mellitus, hypertension, lipid abnormalities and metabolic syndrome.12 Currently, there are no pharmacological therapies approved by the FDA to treat PCOS.5 Alternatives include pharmacological management of symptoms with medications like combined oral contraceptive pills, metformin and anti-obesity agents.6 Recently, more discussion about the lack of PCOS treatment has been …

Addressing The Black Maternal Mortality Rate, Kennedy Sanders, Venkateswar Venkataraman, Kate Whelihan

Rowan-Virtua Research Day

Introduction: As of 2021, the Black maternal mortality rate in the United States was 69.9 deaths per 100,000 live births as compared to the national average of 32.9 and the White American average of 26.61. It has been demonstrated that this discrepancy is not fully explained by socioeconomic status. Doulas are professionals who provide support and guidance throughout pregnancy, birth, and early parenthood. Encouraging the use of doulas may be an effective approach to improve the birth experience for Black mothers. Methods: A literature review was performed using PubMed and the following search strings: maternal mortality rate (+race, +race +ethnicity, …

Between Nsaids, Local Anesthetics, And Non-Medicinal Analgesics, Which Method Is The Most Effective At Providing Pain Relief During Iud Insertions For Nulliparous And Multiparous Women?, Natali Sharma

Rowan-Virtua Research Day

Objective: One major barrier for usage of intrauterine devices (IUD) includes a widespread sense of fear regarding pain during insertion of this contraception. By researching the most effective IUD insertion analgesics available and standardizing these pain management methods, women may be less fearful of obtaining IUDs.

Methods: A comprehensive literature review was conducted using Scopus, PubMed, Web of Science, EMBASE and Cochrane Library to compare methods of pain relief during IUD insertions. Outcomes measured include the pain management method used, the dosage administered, the pain experienced by patients evaluated using a Visual Analog Scale (VAS) prior to insertion …

Case Report: An Emergency Department Presentation Of An Ovarian Teratoma, David Marconi, Zamron Masih

Rowan-Virtua Research Day

A teratoma (from the Greek terato for “monster” and onkoma for “mass” or “swelling”) is a type of neoplasm composed of tissues from two or three germ layers. Mature cystic teratomas (MCTs) constitute 70% of all ovarian neoplasms. They typically present with nonspecific symptoms such as pain and nausea. They account for approximately 2% of all primary ovarian malignant cancers and are predominately diagnosed via ultrasound. Computed tomography may be necessary if malignancy is suspected. Larger size warrants a higher suspicion of malignancy. Management is symptom control and ultimately, surgical removal. Prognosis is generally excellent, provided there is no malignant …

Sexual Function In Women With Polycystic Ovary Syndrome: A Systematic Review And Meta-Analysis., Hester Pastoor, Aya Mousa, Hanneke Bolt, Wichor Bramer, Tania S. Burgert, Anuja Dokras, Chau Thien Tay, Helena J. Teede, Joop Laven

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common and distressing endocrine disorder associated with lower quality of life, subfertility, diabetes, cardiovascular disease, depression, anxiety, and eating disorders. PCOS characteristics, its comorbidities, and its treatment can potentially influence sexual function. However, studies on sexual function in women with PCOS are limited and contradictory.

OBJECTIVE AND RATIONALE: The aim was to perform a systematic review of the published literature on sexual function in women with PCOS and assess the quality of the research and certainty of outcomes, to inform the 2023 International Guidelines for the Assessment and Management of PCOS.

SEARCH METHODS: …

Using Genome And Transcriptome Data From African-Ancestry Female Participants To Identify Putative Breast Cancer Susceptibility Genes, Jie Ping, Guochong Jia, Qiuyin Cai, Xingyi Guo, Ran Tao, Christine Ambrosone, Dezheng Huo, Stefan Ambs, Mollie E Barnard, Yu Chen, Montserrat Garcia-Closas, Jian Gu, Jennifer J Hu, Esther M John, Christopher I Li, Katherine Nathanson, Barbara Nemesure, Olufunmilayo I Olopade, Tuya Pal, Michael F Press, Maureen Sanderson, Dale P Sandler, Toshio Yoshimatsu, Prisca O Adejumo, Thomas Ahearn, Abenaa M Brewster, Anselm J M Hennis, Timothy Makumbi, Paul Ndom, Katie M O'Brien, Andrew F Olshan, Mojisola M Oluwasanu, Sonya Reid, Song Yao, Ebonee N Butler, Maosheng Huang, Atara Ntekim, Bingshan Li, Melissa A Troester, Julie R Palmer, Christopher A Haiman, Jirong Long, Wei Zheng

Faculty, Staff and Student Publications

African-ancestry (AA) participants are underrepresented in genetics research. Here, we conducted a transcriptome-wide association study (TWAS) in AA female participants to identify putative breast cancer susceptibility genes. We built genetic models to predict levels of gene expression, exon junction, and 3' UTR alternative polyadenylation using genomic and transcriptomic data generated in normal breast tissues from 150 AA participants and then used these models to perform association analyses using genomic data from 18,034 cases and 22,104 controls. At Bonferroni-corrected P < 0.05, we identified six genes associated with breast cancer risk, including four genes not previously reported (CTD-3080P12.3, EN1, LINC01956 and NUP210L). Most of these genes showed a stronger association with risk of estrogen-receptor (ER) negative or triple-negative than ER-positive breast cancer. We also replicated the associations with 29 genes reported in previous TWAS at P < 0.05 (one-sided), providing further support for an association of these genes with breast cancer risk. Our study sheds new light on the genetic basis of breast cancer and highlights the value of conducting research in AA populations.

Integrated Transcriptomics And Histopathology Approach Identifies A Subset Of Rejected Donor Livers With Potential Suitability For Transplantation, Ankita Srivastava, Alexandra Manchel, John Waters, Manju Ambelil, Benjamin K. Barnhart, Jan B. Hoek, Ashesh P. Shah, Rajanikanth Vadigepalli

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Liver transplantation is an effective treatment for liver failure. There is a large unmet demand, even as not all donated livers are transplanted. The clinical selection criteria for donor livers based on histopathological evaluation and liver function tests are variable. We integrated transcriptomics and histopathology to characterize donor liver biopsies obtained at the time of organ recovery. We performed RNA sequencing as well as manual and artificial intelligence-based histopathology (10 accepted and 21 rejected for transplantation).

RESULTS: We identified two transcriptomically distinct rejected subsets (termed rejected-1 and rejected-2), where rejected-2 exhibited a near-complete transcriptomic overlap with the accepted livers, …

Fam86a Methylation Of Eef2 Links Mrna Translation Elongation To Tumorigenesis, Joel William Francis, Simone Hausmann, Sabeen Ikram, Kunlun Yin, Robert Mealey-Farr, Natasha Mahealani Flores, Annie Truc Trinh, Tourkian Chasan, Julia Thompson, Pawel Karol Mazur, Or Gozani

Faculty, Staff and Student Publications

eEF2 post-translational modifications (PTMs) can profoundly affect mRNA translation dynamics. However, the physiologic function of eEF2K525 trimethylation (eEF2K525me3), a PTM catalyzed by the enzyme FAM86A, is unknown. Here, we find that FAM86A methylation of eEF2 regulates nascent elongation to promote protein synthesis and lung adenocarcinoma (LUAD) pathogenesis. The principal physiologic substrate of FAM86A is eEF2, with K525me3 modeled to facilitate productive eEF2-ribosome engagement during translocation. FAM86A depletion in LUAD cells causes 80S monosome accumulation and mRNA translation inhibition. FAM86A is overexpressed in LUAD and eEF2K525me3 levels increase through advancing LUAD disease stages. FAM86A knockdown attenuates LUAD cell proliferation and suppression …

Examining The Association Between Abstinence From Smoking And Healthcare Costs Among Patients With Cancer, George Kypriotakis, Seokhun Kim, Maher Karam-Hage, Jason D Robinson, Jennifer A Minnix, Janice A Blalock, Yong Cui, Diane Beneventi, Bumyang Kim, I-Wen Pan, Ya-Chen Tina Shih, Paul M Cinciripini

Faculty, Staff and Student Publications

Continuous tobacco use in cancer patients is linked to substantial healthcare costs due to increased risks and complications, whereas quitting smoking leads to improved treatment outcomes and cost reductions. Addressing the need for empirical evidence on the economic impact of smoking cessation, this study examined the association between smoking cessation and healthcare cost utilization among a sample of 930 cancer patients treated at The University of Texas MD Anderson Cancer Center’s Tobacco Research and Treatment Program (TRTP). Applying conditional quantile regression and propensity scores to address confounding, our findings revealed that abstinence achieved through the TRTP significantly reduced the median …

Response Of Treatment-Naive Brain Metastases To Stereotactic Radiosurgery, Chibawanye I Ene, Christina Abi Faraj, Thomas H Beckham, Jeffrey S Weinberg, Clark R Andersen, Ali S Haider, Ganesh Rao, Sherise D Ferguson, Christopher A Alvarez-Brenkenridge, Betty Y S Kim, Amy B Heimberger, Ian E Mccutcheon, Sujit S Prabhu, Chenyang Michael Wang, Amol J Ghia, Susan L Mcgovern, Caroline Chung, Mary Frances Mcaleer, Martin C Tom, Subha Perni, Todd A Swanson, Debra N Yeboa, Tina M Briere, Jason T Huse, Gregory N Fuller, Frederick F Lang, Jing Li, Dima Suki, Raymond E Sawaya

Faculty, Staff and Student Publications

With improvements in survival for patients with metastatic cancer, long-term local control of brain metastases has become an increasingly important clinical priority. While consensus guidelines recommend surgery followed by stereotactic radiosurgery (SRS) for lesions >3 cm, smaller lesions (≤3 cm) treated with SRS alone elicit variable responses. To determine factors influencing this variable response to SRS, we analyzed outcomes of brain metastases ≤3 cm diameter in patients with no prior systemic therapy treated with frame-based single-fraction SRS. Following SRS, 259 out of 1733 (15%) treated lesions demonstrated MRI findings concerning for local treatment failure (LTF), of which 202 /1733 (12%) …

A Genetic Association Study Of Circulating Coagulation Factor Viii And Von Willebrand Factor Levels, Paul S De Vries, Paula Reventun, Michael R Brown, Adam S Heath, Jennifer E Huffman, Ngoc-Quynh Le, Allison Bebo, Jennifer A Brody, Gerard Temprano-Sagrera, Laura M Raffield, Ayse Bilge Ozel, Florian Thibord, Deepti Jain, Joshua P Lewis, Benjamin A T Rodriguez, Nathan Pankratz, Kent D Taylor, Ozren Polasek, Ming-Huei Chen, Lisa R Yanek, German D Carrasquilla, Riccardo E Marioni, Marcus E Kleber, David-Alexandre Trégouët, Jie Yao, Ruifang Li-Gao, Peter K Joshi, Stella Trompet, Angel Martinez-Perez, Mohsen Ghanbari, Tom E Howard, Alex P Reiner, Marios Arvanitis, Kathleen A Ryan, Traci M Bartz, Igor Rudan, Nauder Faraday, Allan Linneberg, Lynette Ekunwe, Gail Davies, Graciela E Delgado, Pierre Suchon, Xiuqing Guo, Frits R Rosendaal, Lucija Klaric, Raymond Noordam, Frank Van Rooij, Joanne E Curran, Marsha M Wheeler, William O Osburn, Jeffrey R O'Connell, Eric Boerwinkle, Andrew Beswick, Bruce M Psaty, Ivana Kolcic, Juan Carlos Souto, Lewis C Becker, Torben Hansen, Margaret F Doyle, Sarah E Harris, Angela P Moissl, Jean-François Deleuze, Stephen S Rich, Astrid Van Hylckama Vlieg, Harry Campbell, David J Stott, Jose Manuel Soria, Moniek P M De Maat, Laura Almasy, Lawrence C Brody, Paul L Auer, Braxton D Mitchell, Yoav Ben-Shlomo, Myriam Fornage, Caroline Hayward, Rasika A Mathias, Tuomas O Kilpeläinen, Leslie A Lange, Simon R Cox, Winfried März, Pierre-Emmanuel Morange, Jerome I Rotter, Dennis O Mook-Kanamori, James F Wilson, Pim Van Der Harst, J Wouter Jukema, M Arfan Ikram, John Blangero, Charles Kooperberg, Karl C Desch, Andrew D Johnson, Maria Sabater-Lleal, Charles J Lowenstein, Nicholas L Smith, Alanna C Morrison

Faculty, Staff and Student Publications

Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program along with TOPMed-based imputation of genotypes in additional samples to identify genetic associations with circulating FVIII and VWF levels in a single-variant meta-analysis, including up to 45 289 participants. Gene-based aggregate tests were implemented in TOPMed. We identified 3 candidate causal genes and tested their functional effect on FVIII release from human liver endothelial cells (HLECs) and VWF release from human umbilical vein endothelial cells. Mendelian randomization was …

The Long Non-Coding Rna Gene C027288.3 Plays A Role In Human Endometrial Stromal Fibroblast Decidualization, Rupak Thapa, Kevin Marmo, Liang Ma, Donald S Torry, Brent M Bany

2020-Current year OA Pubs

During the secretory phase of the menstrual cycle, endometrial fibroblast cells begin to change into large epithelial-like cells called decidual cells in a process called decidualization. This differentiation continues more broadly in the endometrium and forms the decidual tissue during early pregnancy. The cells undergoing decidualization as well as the resulting decidual cells, support successful implantation and placentation during early pregnancy. This study was carried out to identify new potentially important long non-coding RNA (lncRNA) genes that may play a role in human endometrial stromal fibroblast cells (hESF) undergoing decidualization in vitro, and several were found. The expression of nine …

The Clinical Utility And Diagnostic Implementation Of Human Subject Cell Transdifferentiation Followed By Rna Sequencing, Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Matthew B Neeley, Mezthly Pena, Kim C Worley, Lindsay C Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J Craigen, Gary D Clark, Seema Lalani, Carlos A Bacino, Keren Machol, Hsiao-Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer Sheppard, My T T Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh Cs Nagamani, Zhandong Liu, Christine M Eng, Brendan Lee, Pengfei Liu

Faculty, Staff and Students Publications

RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or absent expression of a significant number of disease-associated genes/transcripts in clinically accessible samples. As this is especially problematic in neurological diseases, we developed a clinical diagnostic approach that enhanced the detection and evaluation of tissue-specific genes/transcripts through fibroblast-to-neuron cell transdifferentiation. The approach is designed specifically to suit clinical implementation, emphasizing simplicity, cost effectiveness, turnaround time, and reproducibility. For clinical validation, we generated induced neurons (iNeurons) from 71 individuals with primary …

Comprehensive Atrial Fibrillation Burden And Symptom Reduction Post-Ablation: Insights From Decaaf Ii, Charbel Noujaim, Ala Assaf, Chanho Lim, Han Feng, Hadi Younes, Mario Mekhael, Nour Chouman, Ghaith Shamaileh, Abdel Hadi El Hajjar, Tarek Ayoub, Nino Isakadze, Mihail G Chelu, Nassir Marrouche, Eoin Donnellan

Faculty, Staff and Students Publications

Aims: Traditional atrial fibrillation (AF) recurrence after catheter ablation is reported as a binary outcome. However, a paradigm shift towards a more granular definition, considering arrhythmic or symptomatic burden, is emerging. We hypothesize that ablation reduces AF burden independently of conventional recurrence status in patients with persistent AF, correlating with symptom burden reduction.

Methods and results: Ninety-eight patients with persistent AF from the DECAAF II trial with pre-ablation follow-up were included. Patients recorded daily single-lead electrocardiogram (ECG) strips, defining AF burden as the proportion of AF days among total submitted ECG days. The primary outcome was atrial arrhythmia recurrence. The …

Leukocytospermia Does Not Negatively Impact Outcomes In In Vitro Fertilization Cycles With Intracytoplasmic Sperm Injection And Preimplantation Genetic Testing For Aneuploidy: Findings From 5435 Cycles, Pavan Gill, Nicolas Garrido Puchalt, Thomas Molinaro, Marie Werner, Emre Seli, James Hotaling, Philip Cheng

Jefferson Health - New Jersey Papers

PURPOSE: To investigate whether leukocytospermia (defined as the presence of ≥ 1 × 10

METHODS: This was a retrospective cohort study including 5425 cycles between January 2012 to December 2021 at a single large university-affiliated fertility clinic. The primary outcome was live birth rate (LBR).

RESULTS: The prevalence of leukocytospermia was 33.9% (n = 1843). Baseline characteristics including female age, BMI, AMH, Day 3 FSH, and male partner's age were similar in cycles with and without leukocytospermia. The LBR after the first euploid embryo transfer was similar in those with and without leukocytospermia (62.3% vs. 63% p = 0.625). Secondary …

Healthcare Social Network Research And The Echo Model™: Exploring A Community Of Practice To Support Cultural Brokers And Transfer Cultural Knowledge, Phil Nixon, Chiara Broccatelli, Perrin Moss, Sarah Baggio, Angela Young, Dana Newcomb

Project ECHO Bibliography

BACKGROUND: Project ECHO

METHODS: Social network theories and methods informed the collection of network data and analysis of advice-seeking relationships among ECHO network members and their nominees. Registered members from two ECHO networks were invited to complete the Qualtrics survey. Networks analysed comprised 398 professionals from mainstream health, Aboriginal and Torres Strait Islander Community Controlled Health Organisation, education, disability and child safety service settings.

RESULTS: Brokers were well represented, both those who hold knowledge brokerage positions as well as cultural brokers who incorporate clinical and cultural knowledge enabling holistic care for Aboriginal and Torres Strait Islander patients (38 individuals, 17% …

Rna Expression Of 6 Genes From Metastatic Mucosal Gastric Cancer Serves As The Global Prognostic Marker For Gastric Cancer With Functional Validation., Yun-Suhk Suh, Jieun Lee, Joshy George, Donghyeok Seol, Kyoungyun Jeong, Seung-Young Oh, Chanmi Bang, Yukyung Jun, Seong-Ho Kong, Hyuk-Joon Lee, Jong-Il Kim, Woo Ho Kim, Han-Kwang Yang, Charles Lee

Faculty Research 2024

BACKGROUND: Molecular analysis of advanced tumors can increase tumor heterogeneity and selection bias. We developed a robust prognostic signature for gastric cancer by comparing RNA expression between very rare early gastric cancers invading only mucosal layer (mEGCs) with lymph node metastasis (Npos) and those without metastasis (Nneg).

METHODS: Out of 1003 mEGCs, all Npos were matched to Nneg using propensity scores. Machine learning approach comparing Npos and Nneg was used to develop prognostic signature. The function and robustness of prognostic signature was validated using cell lines and external datasets.

RESULTS: Extensive machine learning with cross-validation identified the prognostic classifier consisting …

Early Molecular Events Of Autosomal-Dominant Alzheimer's Disease In Marmosets With Psen1 Mutations., Gregg E Homanics, Jung Eun Park, Lauren Bailey, David J Schaeffer, Lauren Schaeffer, Jie He, Shuoran Li, Tingting Zhang, Annat Haber, Catrina Spruce, Anna Greenwood, Takeshi Murai, Laura Schultz, Lauren Mongeau, Seung-Kwon Ha, Julia Oluoch, Brianne Stein, Sang Ho Choi, Hasi Huhe, Amantha Thathiah, Peter L Strick, Gregory W. Carter, Afonso C Silva, Stacey J Sukoff Rizzo

Faculty Research 2024

INTRODUCTION: Fundamental questions remain about the key mechanisms that initiate Alzheimer's disease (AD) and the factors that promote its progression. Here we report the successful generation of the first genetically engineered marmosets that carry knock-in (KI) point mutations in the presenilin 1 (PSEN1) gene that can be studied from birth throughout lifespan.

METHODS: CRISPR/Cas9 was used to generate marmosets with C410Y or A426P point mutations in PSEN1. Founders and their germline offspring are comprehensively studied longitudinally using non-invasive measures including behavior, biomarkers, neuroimaging, and multiomics signatures.

RESULTS: Prior to adulthood, increases in plasma amyloid beta were observed in PSEN1 mutation …

Comparable Cigarette Consumption Data Collected Using Timeline Follow-Back And Digital Diary Among Treatment-Seeking Smokers, Yong Cui, Jason D Robinson, George Kypriotakis, Jennifer A Minnix, Charles E Green, Seokhun Kim, Maher Karam-Hage, Paul M Cinciripini

Faculty, Staff and Student Publications

Objective: The timeline follow-back interview is a common method of collecting daily cigarette consumption (cigarettes per day [CPD]) in smoking research. However, it may be subject to recall bias due to its reliance on retrospective reports. The increasing ownership of smartphones allows researchers to administer app-based digital diaries (DD) to collect CPD, which is expected to have less recall bias. Several studies have compared these two methods and found a noticeable discrepancy between them. However, these studies have mainly focused on the time window when smokers were smoking ad libitum. In this study, we wanted to determine the comparability of …