Digital Commons Network^™

Quality Of Life In Patients With P16+ Oropharyngeal Cancer Receiving Accelerated Radiation Therapy With Either Cisplatin Or Cetuximab In The Nrg/Rtog 1016 Randomized Controlled Trial, Jimmy J Caudell, David J Adelstein, Paul M Harari, Erich M Sturgis, Ethan Basch, Shlomo A Koyfman, Greg A Krempl, Dukagjin M Blakaj, James Edward Bates, Thomas J Galloway, Christopher U Jones, Beth M Beadle, Jonathan Harris, Quynh-Thu Le, Sue S Yom, Benjamin Movsas

Faculty, Staff and Students Publications

Purpose: NRG/RTOG 1016 was a phase III randomized noninferiority de-escalation trial comparing cetuximab versus cisplatin, concurrent with accelerated radiation 70 Gy/6 weeks, in p16+ oropharyngeal cancer. Quality of life (QOL) was a secondary endpoint.

Methods and materials: Eligible/consenting patients among the first 400 entered completed the EORTC QLQ-C30/H&N35 at baseline, end of treatment, 3, 6, and 12 months posttreatment, to provide 90% power to detect an effect size of 0.5 in the between-arm change in QOL scores from baseline to 6 months. We report completion, responsiveness, and patterns over time across domains between arms, considering a difference of >10 points …

Current State And Needs Of Clinical Laboratories In Latin America: A Cross-Country Assessment., Alejandro R Molinelli, Elizabeth L Palavecino, José C Jara-Aguirre, Kerry Cosby, Allison Targowski, Barbara M Goldsmith, Rosa Sierra-Amor, Juan D García, Alicia Algeciras-Schimnich, Eugenio H Zabaleta, Veronica I Luzzi, Jessica M Colón-Franco

Ambulatory and Primary Care Articles

The Association for Diagnostics & Laboratory Medicine (ADLM) aims to improve health by providing education to laboratory scientists worldwide. Different regions of the world face unique challenges shaped by their national and regional contexts. However, the needs of clinical laboratories worldwide remain largely understudied. To address this gap, we conducted a comprehensive needs assessment survey among laboratory professionals in the Latin American region. The survey was distributed to over 2708 individuals across Latin American countries and yielded 148 responses. Most respondents were from urban areas (74%) and worked in private hospital laboratories (45%), with microbiology (25%) and chemistry (23%) identified …

Rates And Predictors Of Intention To Get Preventive Screenings Among Individuals In Recovery From Substance Use Disorders, Afsha Hossain, Ban A. Majeed, Lia Pierson Bruner

Journal of the Georgia Public Health Association

Background: Individuals with substance use disorders (SUDs) are at greater risk for chronic disease but often face barriers to access and uptake of preventive screenings, so the aim of this study was to identify rates and predictors for intention to get preventive screenings among residents at two recovery centers.

Methods: We used a cross-sectional survey (N=95, response rate 51%) to determine previous screening rates and the intention to get recommended preventive screenings among residents of two long-term recovery programs in Athens, GA, using bivariate analysis with chi-square to look for associations with intention.

Results: Prior use of preventive health services …

Challenges Of Electronic Medical Record Implementation From The Perspective Of Hospital Leaders In Riyadh, Kingdom Of Saudi Arabia's Public Hospitals: A Mixed-Methods Study, Atheer A. Alghamdi, Samiha H. Sayed

Saudi Medical Journal

Objectives: To assesses the challenges of implementing electronic medical records (EMR) from the leaders' perspective in public hospitals in Riyadh, Kingdom of Saudi Arabia (KSA), and explores their suggestions for improvement. Methods: A concurrent mixed research approach using a purposive sample of all hospital leaders (61) involved in EMR in 5 randomly selected public hospitals utilizing EMR in Riyadh. The researchers deployed a semi-structured interview schedule to collect the data. They used descriptive statistics and ordinal regression analysis for quantitative data, and thematic analysis for qualitative data. Results: Indicate that 80.3% of the hospital leaders had a good perception of …

Virtual Reality For The Management Of Postoperative Pain And Anxiety In Children And Adolescents Undergoing Nuss Repair Of Pectus Excavatum: Randomized Controlled Trial, Charlotte M. Walter, Dillon Froass, Nora Bell, Lauren Haack, Chloe Boehmer, Claudia Bruguera Torres, Rachel Spivak, Max Chou, Kristie Geisler, Keith O'Conor, Sara E. Williams, Lili Ding, Christopher D. King, Vanessa A. Olbrecht

Department of Medicine Faculty Papers

BACKGROUND: Virtual reality (VR) is a novel technology with implications for pain and sensory processing. VR may serve as a novel, scalable method to deliver clinically validated therapy for pain management as an alternative or adjunct to opioids for acute pain. Given that psychological factors and pain perception are both components of postoperative pain, it may also be beneficial to incorporate modalities that decrease anxiety, such as active relaxation and guided meditation with VR. Unfortunately, these therapies are not widely available due to multiple barriers. VR has the potential to deliver pain-reducing, psychologically based therapy to children, thereby enhancing multimodal …

International Consensus-Driven Recommendations For Patient-Reported Outcome Research Objectives In Early Phase Dose-Finding Oncology Trials: Optimise-Ror, Emily Alger, Olalekan Lee Aiyegbusi, Amylou C Dueck, Anna Minchom, Madeline Pe, Claire Snyder, Roger Wilson, Ethan Basch, Yu Qiao, Susan E Bates, Helen Bulbeck, Lizzie Dean, Massimo Di Maio, Aaron R Hansen, Olga Kholmanskikh, Ken Kobayashi, Dónal Landers, Christophe Le Tourneau, J Jack Lee, Brigette B Y Ma, Lynley V Marshall, Sheetal Patel, Joan Petrie, Gregory R Pond, Kieran Prior, Khadija R Rantell, John F Reeve, Olga Solovyeva, Nolan A Wages, Harald A Weber, Melanie J Calvert, Christina Yap

Faculty, Staff and Student Publications

Purpose: There is growing scientific interest in incorporating patient-reported outcomes (PROs) in early phase dose-finding oncology trials (DFOTs) to assess tolerability, inform dose selection, and guide later stage trial design. However, research indicates that PRO objectives in DFOTs are often unclear. The Incorporating Patient-Reported Outcomes in Dose-Finding Trials-Research Objectives Recommendations (OPTIMISE-ROR) project was established to support trialists to effectively incorporate PROs into DFOTs.

Methods: Using the Enhancing Quality and Transparency of Health Research (EQUATOR) Network's methodological framework, guideline development included the following: (1) a methodological review of published DFOTs incorporating PROs; (2) candidate item generation, refined through expert consultation; (3) …

Retrocardiac Innominate Vein: A Rare Vascular Anomaly Associated With Congenital Heart Disease, Ali Alakhfash, Osama Alrusaini, Fahad Alhabshan, Khaled Alhawri, Abdulrahman Almesned

Journal of the Saudi Heart Association

Atrial septal defects are common congenital heart anomalies and may coexist with rare systemic venous abnormalities. We describe a one-year-old female with a large secundum atrial septal defect and an unusual retrocardiac innominate vein. Transthoracic echocardiography suggested a persistent left superior vena cava, but the innominate vein was absent from its usual location and the coronary sinus was not dilated. Cardiac CT angiography demonstrated a retrocardiac innominate vein draining into the azygos system and subsequently to the right atrium. Surgical atrial septal defect closure was successful. Recognition of this anomaly is essential for accurate diagnosis and procedural planning.

Clinical And Economic Impact Of Vascular Access Teams Utilizing An Ic-Ecg-Based Tip Confirmation System For Peripherally Inserted Central Catheters., Gustavo Rc De Freitas, Sanjay A Patel, Shigeki Fujitani, Yusuke Terasaka, Angel A Sarabia Collazo, Andrew Barton, Leanne Ruegg, Amanda Griffin, Matthew O'Brien, Idal Beer

Heart and Vascular Articles

INTRODUCTION: Peripherally inserted central catheters (PICCs) are commonly used in clinical practice. Historical PICC placement methods (e.g. fluoroscopy-guided placement or blind insertion with confirmatory chest X-ray) have many limitations and are associated with longer wait times, treatment delays, and potential risks to patient safety. One such way of addressing some of these issues is the use of dedicated systems that integrate ultrasound vessel selection and PICC insertion, magnetic catheter tip navigation, and intracavitary electrocardiogram-based tip confirmation (IC-ECG). The uptake of these systems has been slow in some parts of the world. This narrative review aims to assess the clinical and …

Real-World Precision Medicine Data In Metastatic Prostate Cancer - A Retrospective Cohort Study, Awais Paracha, Derek Tran, Margot Noyelle, Jonathan Kapilian, Zohair Siddiqui, Adrian Choppa, Anthony Corsi, Jacob Stone, Xin-Hua Zhu

Department of Medicine Faculty Papers

Background: Prostate cancer (PC) is the most common cancer in men in the United States with a 5-year relative survival rate for people with distant metastases of 36%. We conducted a single institution, retrospective cohort study of patients with metastatic PC to investigate whether certain gene mutations can be used as predictive biomarkers.

Methods: 200 patients with metastatic hormone sensitive (mHSPC) and castration resistant (mCRPC) prostate cancer who had a FoundationOne report and were treated from June 2007 to October 2024 were included in the study. Disease progression was evaluated according to RECIST criteria, PCWG3 criteria, and PSA values. Assessed …

Dual Phagocytosis-Checkpoint Blockade Revitalizes Immune Surveillance In Mouse Models Of Glioblastoma, Jonghoon Ha, Yifan Wang, Yifan Ma, Annette Wu, Shiyan Dong, Jared L Edwards, Yen-Tzu Chang, Xiaotian Wang, Maurice Dufilho, Michelle Najarro Torres, Shannon Mccabe, Weiye Deng, Adam J Grippin, Jeffrey S Weinberg, Shaan M Raza, Franco Demonte, Ian E Mccutcheon, Sujit Prabhu, Sherise D Ferguson, Chibawanye I Ene, Kadir Akdemir, Sreyashi Basu, Sonali Jindal, Benjamin R Schrank, Jian Hu, Sangeeta Goswami, Vinay K Puduvalli, Frederick F Lang, Kristin Huntoon, Padmanee Sharma, Betty Y S Kim, Wen Jiang

Faculty, Staff and Student Publications

Macrophage-mediated phagocytosis of tumor cells elicits potent antitumor immunity. Nonetheless, sole-blockade of the anti-phagocytosis molecule CD47 has yielded insufficient therapeutic outcomes. Here, we report that glioblastoma (GBM) cells expressed abundant levels of phagocytosis checkpoint CD24. We further show that dual blockade of CD24 and CD47 synergistically enhances the pro-phagocytic activity of macrophages, thereby improving tumor antigen cross-presentation and activating the cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) pathway. This innate immune activation facilitates T cell infiltration into tumors and sensitizes tumors to anti-PD1 therapy, improving survival outcomes in murine GBM models, including immunosuppressive tumors reflecting human GBM-like features. Thus, our …

Association Between Bmi Z-Score And Postoperative Complications In Pediatric Neuromuscular Scoliosis Surgery, Lorenzo R Deveza, Dallas Vanorny, Frank Gerow, Darrell Hanson, Benny Dahl

Faculty, Staff and Students Publications

Study Design

Single-center retrospective review.

Objective

To investigate the association between BMI Z-scores and postoperative complications in pediatric patients with neuromuscular scoliosis undergoing spinal instrumentation.

Methods

Pediatric patients who underwent spinal instrumentation for neuromuscular scoliosis from July 2012 to June 2016 with a minimum 2-year follow-up were included. BMI and BMI Z-scores were calculated, and patients were stratified into CDC-defined BMI-for-age percentiles: underweight (< 5th percentile), normal (5th to < 85th percentile), overweight (85th to < 95th percentile), and obese (≥95th percentile). Logistic regression assessed associations of BMI, BMI Z-score, and BMI groups with postoperative complications.

Results

In total, 147 patients were included. Average follow-up was 3.2 ± 1.4 years. The most common diagnosis was cerebral palsy (39.5%). Complications occurred in 65 (44.2%) patients: 32 (21.8%) had a surgical site infection (SSI), …

Role Of Continuous Positive Airway Pressure In The Prevention Of Cardiovascular Events In Patients With Obstructive Sleep Apnea: A Systematic Review And Meta-Analysis Of Randomized Clinical Trials, Saif Almuzainy, Mohamed Lemine, Rayan Aljubeh, Ahmad Alilo, Maryam Altaher, Mohamed Almuzainy, Sami Alsalem, Mohamed Dawdi

Journal of the Saudi Heart Association

Background: Obstructive sleep apnea (OSA) is prevalent among patients with cardiovascular disease and is associated with increased risk of major adverse cardiovascular events (MACE). Continuous positive airway pressure (CPAP) is the standard treatment for OSA, but its impact on cardiovascular outcomes remains uncertain, particularly in randomized controlled trials (RCTs).

Objectives: To evaluate the effect of CPAP therapy on cardiovascular outcomes in patients with OSA, and to explore the influence of adherence on treatment efficacy.

Methods: We conducted a systematic review and meta-analysis of RCTs comparing CPAP with placebo or usual care in adults with OSA. Databases including PubMed, Scopus, Ovid, …

Operative Confidence In Open And Endovascular Procedures Among Vascular Surgery Graduates Reflects Procedural Exposure During Training, Jin Park, Nicola Habash, Dawn Salvatore, Michael Nooromid, Paul J. Dimuzio, Babak Abai

Department of Surgery Faculty Papers

Objective: The shift toward minimally invasive techniques has transformed vascular surgery practice and training. As endovascular procedures replace many traditional open operations, concerns have emerged about whether current training adequately prepares graduates for independent practice, particularly in complex open procedures.

Methods: A web-based survey was distributed to recent graduates of Accreditation Council for Graduate Medical Education-accredited vascular surgery training programs from 2022 and 2024. The survey assessed demographics, program characteristics, estimated case volumes, and confidence in 22 core vascular operations using a five-point Likert scale. Mann-Whitney U and Kruskal-Wallis tests, as well as multivariable logistic regression, identified factors associated with …

A Novel Laparoscopic Renal Denervation System In A Preclinical Swine Model, Linwei Zhao, Wei Yang, Binbin Zhu, Yahui Liu, Peng Tian, Xinyu Guo, Yang Dong, Zhiqiang Fan, Huiping Li, Yu Feng, Lijie Zhu, Minfu Bai, Qiuping Zhao, Xingkun Zhang, Chenchen Si, Qianqian Cheng, Gan-Xin Yan, Chuanyu Gao

Department of Medicine Faculty Papers

Laparoscopic renal denervation (RDN) represents a specialized approach for hypertension, particularly when conventional methods face limitations. While catheter-based RDN has demonstrated significant efficacy in recent large-scale clinical trials and has been integrated into international guidelines, its effectiveness can be constrained by complex renal anatomy or incomplete ablation. We developed a novel laparoscopic RDN system, comprising an integrated radiofrequency (RF) clamp, RF generator, and cooling pump, to achieve more controlled adventitial ablation. This study aims to evaluate the safety, feasibility, and optimal parameters of this new system in a preclinical swine model. Sixteen pigs were divided into an immediate group ( …

Integrating The Glycemia Risk Index Into Clinical Practice And Research: A Consensus Report, Guillermo E Umpierrez, Viral N Shah, Veronica Brady, Mark A Clements, Juan Espinoza, Michael A Kohn, Ralph Oiknine, Jane J Seley, Steven P Weitzman, David Kerr, Halis K Akturk, Grazia Aleppo, Mohammed E Al-Sofiani, Eda Cengiz, Francis J Doyle, Osagie Ebekozien, Steven V Edelman, Laya Ekhlaspour, Guido Freckmann, Lutz Heinemann, Irl B Hirsch, Victoria C Hsiao, Sun H Kim, Boris Kovatchev, Rayhan A Lal, Marcus Lind, Julia K Mader, Nestoras Mathioudakis, Tracey Mclaughlin, Sultan A Meo, Deborah A Osafehinti, Moshe Phillip, Priya Prahalad, David Scheinker, Michael P Snyder, Jing Wang, Jenise C Wong, Eugene E Wright, Mandy M Shao, Agatha F Scheideman, Ashley Y Dunova, David C Klonoff

Faculty, Staff and Student Publications

A panel of experts in the use of continuous glucose monitoring (CGM) data in the treatment of diabetes met in Burlingame, California on October 27, 2025 to discuss the utility of the glycemia risk index (GRI) for clinical care research and population health management. The GRI composite metric is a single number (on a 0-100 percentile scale-lower is better) based on an expert-determined weighting of the seven individual components in the existing ambulatory glucose profile (AGP). The GRI describes the quality of glycemia based on glucose values collected in a 14-day CGM tracing, thus providing additional insights into CGM profiles …

Manufacturing And Clinical Applications Of Non-Car-T Immune Effector Cells., Thane Kubik, Theodros Mamo, David H Mckenna

Oncology Articles

No abstract provided.

Infectious Retinitis Associated With Jak Inhibitors: The Ongoing Duality Of Jak Inhibitors, Jose S. Pulido, Fukutaro Mano, Marcello Casella, Susumu Ishida

Wills Eye Hospital Papers

PURPOSE: To discuss the recent evidence that Janus kinase (JAK) inhibitors can cause viral retinitis.

METHODS: A commentary on the case report in this issue and a review of cases in the literature.

RESULTS: A total of 6 cases have now been reported of cytomegalovirus retinitis associated with Jak inhibitors. Additionally, there was a case of bilateral toxoplasma retinitis and a case of herpetic scleritis.

DISCUSSION: It is important to be aware of the potential blinding complications associated with JAK inhibitors and if the patient complains of acute vision loss and/or floaters, the patient should be emergently referred to a …

Patterns Of Recurrent Preterm Birth: An Individual Patient Data Meta-Analysis, Charlotte E. Van Dijk, Annemijn A. De Ruigh, Benjamin Y. Gravesteijn, Brenda M. Kazemier, Vincenzo Berghella, John Owen, Roberto Eduardo Bittar, Rashmi Bagga, Joan M. G. Crane, Andrew H. Shennan, Birgit Arabin, Ben Willem Mol, Eva Pajkrt, C. Emily Kleinrouweler

Department of Obstetrics and Gynecology Faculty Papers

OBJECTIVE: Pregnant patients with a previous spontaneous preterm birth are at high risk for recurrent (spontaneous) preterm birth. We investigated whether the number of previous spontaneous preterm births, gestational age of the previous birth and cervical length could stratify patients into different risk groups for recurrence to investigate whether there is a risk group that does not require additional interventions.

DATA SOURCES: A systematic search of MEDLINE and EMBASE was conducted from 1995 until April 2025.

STUDY ELIGIBILITY CRITERIA: Studies that were included were prospective studies with original individual patient data available that reported on asymptomatic pregnant individuals with ≥1 …

Repair Of Uterine Rupture With Placenta Accreta At 22 Weeks, Followed By Cesarean Hysterectomy Delivery Of Healthy Neonate At 32 Weeks, Molly Dickinson, Thomas Jefferson University, Marco Goldberg, Mae Florendo, Andrew Chau, Corrado Minimo, Kate Stampler, Jay Goldberg

Einstein Health Papers

Introduction: Uterine rupture at previable gestational ages is almost always treated with evacuation of the pregnancy, followed by uterine repair or hysterectomy. Case Presentation: A 40-year-old woman with one prior cesarean section presented at 22 weeks of gestation with an acute abdomen. Imaging noted hemoperitoneum with areas of bulging in the anterior uterine wall. Laparoscopy converted to a laparotomy through a midline incision, noted an actively bleeding 2 cm area of uterine rupture with protruding placental tissue. The uterine rupture was surgically closed with sutures. The patient was kept in the hospital for the remainder of her pregnancy. At 32 …

Multi-Stakeholder Perspectives On Barriers To Mental Health Support For Informal Caregivers, Maria Lizette Rangel, Donaji Stelzig, Cassandra Martinez Enriquez, Hoda Badr

Department of Medical Oncology Faculty Papers

BACKGROUND: Informal caregivers experience elevated psychological distress but face substantial challenges in accessing mental health support. Prior research has focused primarily on individual or interpersonal determinants, with less attention to how organizational, community, and policy contexts shape access and contribute to inequities in service availability.

METHODS: Fifty-one stakeholders, including 17 informal caregivers, 23 community health workers (CHWs), and 11 mental health professionals, completed a demographic survey and 60-90-min semi-structured interviews in English or Spanish. Data were analyzed using thematic analysis, combining deductive coding guided by the Socioecological Model with inductive identification of emergent themes.

RESULTS: Participants identified both barriers and …

Assessing The Presence Of Biasing And Non-Biasing Unblinding In A Randomized Controlled Trial Of A Home-Use Tdcs Device: An Exploratory Analysis, Fredrik Hieronymus, Nathan T M Huneke, Daniel Månsson, Erik M Rehn, Melker Hagsäter, Jair C Soares, Rodrigo M Vieira, Sudhakar Selvaraj, Cynthia Fu

Faculty, Staff and Student Publications

Background: Better-than-chance guessing of treatment assignment raises concerns about unblinding as this opens efficacy estimates up to being influenced by factors other than the true efficacy of the intervention. However, such accuracy does not necessarily indicate that efficacy estimates are biased.

Objective: To assess whether unblinding was biasing (impacting on efficacy estimates) or non-biasing (not impacting on efficacy estimates) in a sham-controlled trial of a home-use transcranial direct-current stimulation (tDCS) device, in which treatment allocation guesses at endpoint were unbalanced.

Methods: Interrelations between i) treatment allocation, ii) treatment allocation guesses, iii) adverse event reports, and iv) depressive symptom severity, as …

Cancers 2025: Growing With Quality, Samuel C Mok

Faculty, Staff and Student Publications

As we enter 2026, we take a moment to reflect on the progress of Cancers over the past year [...].

Identification Of De Novo Variants From Parent-Proband Duos Via Long-Read Sequencing, Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan, Sami Belhadj, Bojan Losic, John Harting, Krista Bluske, Jonathan Lotempio, Huda B. Al-Kouatly, Rachid Karam, William J. Rowell, Changrui Xiao, Eric Vilain, Seth I. Berger

Department of Obstetrics and Gynecology Faculty Papers

While de novo variants cause many Mendelian disorders, their detection currently requires sequencing of the proband and both biological parents. This is not feasible when only one parent is available, a limitation for millions of families. Here, we develop duoNovo, which identifies de novo variants from parent-proband duos using long-read sequencing followed by haplotype reconstruction and detection of identical-by-descent haplotype blocks. We sequenced 104 trios with PacBio HiFi sequencing and applied duoNovo to each of the 208 duos constructed by masking one parent, classifying over 55 million variants according to their de novo status. We evaluated duoNovo's performance against classifications …

Randomized Phase 2b Dose-Escalation Trial Of Stem Cell Therapy With Laromestrocel For Aging Frailty, Julian Javier, Jeffrey Rosen, Robert Perry, Antonio Blanco, Pedro Ylisastigui, Jeremy Walston, Hidenori Arai, Elena Volpi, Anne B Newman, Brittany Varnado, Lisa Mcclain-Moss, Eric Naioti, Danial Mehranfard, Dan Gincel, Chao Wang, Michael J Mintzer, Joel Danisi, Geoff A Green, Jeffrey Botbyl, Zarin Zainul, Brian G Rash, Joshua M Hare

Faculty, Staff and Students Publications

Frailty, a syndrome that decreases healthspan in older individuals, lacks effective therapies. We conducted a randomized, dose-finding clinical trial to test whether human bone marrow-derived allogeneic mesenchymal stem cells (MSCs; laromestrocel) improve physical functioning and patient self-reported outcomes in ambulatory individuals with frailty (ClinicalTrials.gov #NCT03169231; N = 148). Laromestrocel infusion results in clinically meaningful, dose- and time-dependent increases in the 6-min walk test (6MWT; primary endpoint) compared with placebo: 63.4 m (95% confidence interval [CI]: 17.1-109.6 m; p = 0.0077) at month 9 and 41.3 m (95% CI: -2.4-84.9 m; p = 0.0635) at month 6. Increased 6MWT distance correlates …

Bi-Allelic Variants In Nrdc Cause A Neurodevelopmental Disorder Characterized By Neonatal Lethality, Microcephaly, And Brain Abnormalities, François Lecoquierre, Aisha M Al Shamsi, Gyu S Lee, Osman Yesilbas, Preston Taylor, Matthew B Mcdougal, Vahid Bahrambeigi, Omid Aryani, Juan Felipe Ramirez, Khalid Hama Salih, Chadi Al Alam, Heba Morsy, Haytham Hussien, Tarek Omar, Ibrahim M Abdelrazek, Anne Claire Brehin, Dana Marafi, Tugba Kalayci, Jubran Abu Rahma, Jawabreh Kassem Talbeya, Husein Dabbah, Eric Verspyck, Toktam Moosavian, Jawid M Fatih, Tadahiro Mitani, Gulsen Akay, Daniel G Calame, Anne-Marie Guerrot, Wendy K Chung, Henry Houlden, James R Lupski, Adel Shalata, Wan Hee Yoon

Faculty, Staff and Students Publications

Nardilysin (NRDC) plays a role in multiple cellular functions in diverse cellular compartments, including ectodomain shedding in the plasma membrane, as well as chaperoning a key Krebs cycle enzyme in mitochondria. We had previously reported limited clinical information from two individuals with homozygous frameshift variants in NRDC. With inclusion of previously published individuals, here we report 14 individuals (10 females, four males) from nine unrelated families carrying homozygous NRDC pathogenic variants. Common clinical features include severe to profound developmental delay/intellectual disability (12/12), microcephaly (13/13), prematurity (5/13), lethality in the first 3 years of life (9/14), seizures (7/11), joint contractures (4/8), …

Proteomics Analysis Of Plasma For Risk Of Sepsis: Findings From The Atherosclerosis Risk In Communities Study, Thomas R Austin, Jingsha Chen, Bruce M Psaty, David Dowdy, Christie M Ballantyne, Morgan E Grams, Josef Coresh, James S Floyd, Kunihiro Matsushita

Faculty, Staff and Students Publications

Background: Sepsis is a life-threatening complication of infection with high mortality. A high-throughput analysis of circulating blood proteins may provide mechanistic insight and potent therapeutic targets for the prevention of sepsis.

Methods: We used multivariable Cox regression analysis to examine the association of 4955 plasma proteins, measured by SomaScan, with the risk of incident sepsis among 11 065 participants of the Atherosclerosis Risk in Communities (ARIC) Study (visit 3 in 1993 to 1995; mean age, 60.1 years, 54.4% female, 21.0% Black). Proteins (false discovery rate [FDR] of P < 0.05) discovered at visit 3 were replicated using data at visit 5 (n = 4869 in 2011 to 2013: mean age, 75.5 years) and in the Cardiovascular Health Study (CHS) (n = 3512 in 1992 to 1993; mean age, 74.5 years). Canonical pathways were identified by enrichment analyses.

Results: At ARIC visit three, 669 proteins were associated with the risk …

A Case Report Of A Double Descending Dorsal Aorta In A Complex Congenital Heart Disease., Anhar Ali Baeshen, Mohammad Amin Ghulam Rasol, Riad Abouzahr, Zaheer Ahmad Ahmad

Journal of the Saudi Heart Association

Double dorsal aorta is an extremely rare congenital embryological vascular anomaly caused by incomplete regression and fusion of the paired dorsal aortae and may be associated with complex congenital heart disease. We report a 9-year-old girl with complex congenital heart disease who underwent single-ventricle palliation, including a bidirectional Glenn at 10 months of age. During pre-Fontan cardiac catheterization a double descending dorsal aorta was incidentally discovered and later confirmed by CT angiography. Although patient was asymptomatic, recognizing this anomaly is crucial for surgical planning and catheter-based interventions, highlighting the importance of detailed preoperative imaging in single-ventricle patients.

Characteristics And Incidence Of Gastric Cancer Among Patients With Autoimmune And Non-Autoimmune Atrophic Gastritis In A U.S. Population, Yan Liu, Juan Gomez Cifuentes, Shilpa Jain, Hashem B El-Serag

Faculty, Staff and Students Publications

Background: Autoimmune gastritis (AIG) is a risk factor for gastric neuroendocrine tumor (NET). We compared risk factors between AIG cases, non-autoimmune atrophic gastritis (NAIG) cases, and normal controls and determined the incidence of gastric malignancy, including adenocarcinoma and NET.

Methods: We included patients who underwent endoscopy with gastric biopsy between 3/2006 and 9/2021 in Harris Health (Houston, Texas). We identified AIG cases, NAIG cases (gastric atrophy or intestinal metaplasia [GIM] without autoimmune features), and normal controls (without AIG, NIAG, and GIM). A GI pathologist confirmed AIG diagnosis on histopathology report or slide. We determined risk factors of AIG compared to …

Medial Pulvinar Nucleus As A Causal Hub For Heteromodal Naming, Oscar Woolnough, Tessy Thomas, Kathryn M Snyder, Ellery Wheeler, Jay Gavvala

Faculty, Staff and Student Publications

Our ability to retrieve the names of objects in our environment is a fundamental aspect of everyday life. This process requires a complex, dynamic network of cortical and subcortical interactions. While the cortical constituents of this network have been extensively studied with intracranial recordings, the subcortical nodes of the naming network are unclear. We probed the role of the left medial pulvinar nucleus in naming with direct intracranial recordings and stimulation in eight humans (three male, five female) as they named objects using pictures and auditory and written descriptions. We found a spectrotemporal signature of naming in the left medial …

Differences In Graft Rupture And Subsequent Meniscal Tears Following Adolescent Acl Reconstruction Using Quadriceps Tendon Versus Hamstrings Autograft: A Retrospective Study With Minimum 2-Year Follow-Up., Morgan E. Swanson, Christopher Defrancesco, Kevin M. Landrum, David Kell, Richa Gandhi, Sulagna Sarkar, Theodore J. Ganley, Kathleen J. Maguire

Department of Medicine Faculty Papers

BACKGROUND: Anterior cruciate ligament (ACL) reconstruction (ACLR) using quadriceps tendon (QT) autograft is associated with lower rates of graft rupture and favorable functional outcomes compared with hamstring (HS) autograft in adolescents. The ACL-deficient knee is at increased risk of injury to secondary stabilizers of the knee, including the menisci, although studies have not reported differences in rates of subsequent meniscal tear between HS and QT groups.

PURPOSE: The goal of this study was to compare rates of graft rupture and subsequent meniscal tear after adolescent ACLR using HS or QT autograft.

STUDY DESIGN: Cohort study; Level of evidence, 3.

METHODS: …