Medical Specialties Commons^™

Time Tracking And Comparison Of Genetic Counseling Tasks In Inpatient And Outpatient Settings, Alexandra Osborne, Emily Magness Bland, Callie Diamonstein, Kristen Fishler

Faculty, Staff and Students Publications

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing …

Primary Prevention Of Cardiovascular Disease In Asia: Challenges: A Narrative Review, Mayank Dalakoti, Norman H Y Lin, Jonathan Yap, Aaysha Cader, Prajapati Dipanker, Derek Lee, Raja Ezman Raja Shariff, Lucky Cuenza, Satoshi Honda, Vorn Malis, Haowen Jiang, Anish Hirachan, Misato Chimura, Tee Joo Yeo, Khung Keong Yeo, Jack Wei Chieh Tan, Jasper Tromp, Poay Huan Loh, Nicholas W S Chew, Scott Wong, Ching-Hui Sia, Benjamin Y Q Tan, Sofian Johar, Gregory Y H Lip, Eugene Yang, Salim S Virani, Steven Hageman, Hueiming Liu, Emanuele Di Angelantonio, Prabhakaran Dorairaj, Angela S Koh, Calvin Chin, Wael Al Mahmeed, Mark Y Chan, Roger Foo

Faculty, Staff and Students Publications

Importance: Asia is home to 60% of the world's population, including the world's 2 most populous countries, India (1.1B) and China (1.2B). With cardiovascular disease burden and mortality increasing, the role of preventive cardiology is increasingly important.

Observations: The challenges in addressing the cardiovascular disease burden in Asia include unique cardiometabolic features of the different populations, heterogeneity of risk factors among Asian countries, differing levels of health literacy and socioeconomic status, suboptimal infrastructure to support preventive care especially in the primary care sector, high out-of-pocket costs, and environmental pollution.

Conclusions: Asia is a large continent that comprises diverse populations with …

Most Elderly Patients With Subclinical Hypothyroidism Do Not Need To Be Treated, Risheng Xu, Nicola Abate, Nalini Ram, Kristina Little

Faculty, Staff and Students Publications

Whether subclinical hypothyroidism should be treated in elderly patients (≥ 65 years) is controversial. The authors argue for a personalized, wait-and-see approach rather than universal treatment, pointing out that randomized clinical trials have not shown that levothyroxine treatment makes any difference in terms of hard clinical end points, quality of life, or hypothyroid symptom relief in elderly patients with this condition.

Statin Use Is Associated With Protection Against Acute Cholangitis In Patients With Primary Sclerosing Cholangitis: A Multicenter Retrospective Cohort Study, Chiraag Kulkarni, George Cholankeril, Touran Fardeen, Joseph Rathkey, Samir Khan, Soumya Murag, Robert Lerrigo, Ahmad Kamal, Ajitha Mannalithara, Prasun Jalal, Aijaz Ahmed, John Vierling, Aparna Goel, Sidhartha R Sinha

Faculty, Staff and Students Publications

Introduction: Patients with primary sclerosing cholangitis (PSC) are at increased risk of acute cholangitis. The epidemiological risks of cholangitis are poorly studied despite the high morbidity associated with this infection. The aim of this study was to understand the impact of statins on acute cholangitis in PSC.

Methods: This multicenter, retrospective cohort study assessed data from 294 patients with PSC at Stanford Medical Center, Baylor Medical Center, and Valley Medical Center. Clinical factors associated with the development of cholangitis were identified using multivariable Cox regression.

Results: The patients were predominantly male (68.7%) with a median age at enrollment of 48 …

The Burden Of Steatotic Liver Disease Before And During The Covid-19 Pandemic: Correspondence To Editorial On “Current Burden Of Steatotic Liver Disease And Fibrosis Among Adults In The United States, 2017–2023”, Donghee Kim, Pojsakorn Danpanichkul, Karn Wijarnpreecha, George Cholankeril, Rohit Loomba, Aijaz Ahmed

Faculty, Staff and Students Publications

No abstract provided.

Sialidase Fusion Protein Protects Against Influenza Infection In A Cigarette Smoke-Induced Model Of Copd, Cheng-Yen Chang, Dominique Armstrong, John M Knight, Trevor V Gale, Stephen Hawley, Max Wang, Nancy Chang, David B Corry, Farrah Kheradmand

Faculty, Staff and Students Publications

First- and secondhand smokers are at an increased risk for influenza virus (IFV)-related respiratory failure and death. Despite approved influenza antiviral treatments, there is an unmet need for treatments that can improve outcomes in populations at risk for respiratory failure, including tobacco users with Chronic Obstructive Pulmonary Disease (COPD). Here we show that the sialidase fusion protein, DAS181, reduced viral burden, mitigated inflammation, and attenuated lung function loss, consistent with broad-spectrum anti-influenza responses in a mouse model of COPD and IFV-A infection. Treatment with DAS181 reprogramed the sialic acid-binding immunoglobulin-like lectins (Siglecs) in alveolar macrophages, increased expression of phagocytic marker …

Insights Into Protection Against Mycobacterium Tuberculosis Infection: Time To Officially Confirm Another Phenotype?, Todia P Setiabudiawan, Philip C Hill, Andrew R Dinardo, Reinout Van Crevel

Faculty, Staff and Students Publications

Immune correlates of protection against infection with Mycobacterium tuberculosis (Mtb) remain elusive. In this issue of the JCI, Dallmann-Sauer and authors demonstrate that lack of tuberculin skin test (TST) and interferon γ release assay (IGRA) conversion among people with HIV despite years-long Mtb exposure is associated with alveolar lymphocytosis, including specific poly-cytotoxic T cells, and M1-type alveolar macrophages with a stronger ex vivo response to the pathogen. Studies in these rare individuals, termed "TB resisters" and in tuberculosis household contacts who are repeatedly IGRA negative in the months after a specific exposure event (known as "early clearers") help elucidate manipulatable …

Rapid Diagnostic Sequencing Of Stool Dna Using Targeted Nanopore Sequencing In Patients With A Pulmonary Tuberculosis Diagnosis, Tara Ness, Nontobeko Maphalala, Wethusonkhe Khumalo, Doctor Sibandze, Abigail Seeger, Maia Madison, Anca Vasiliu, Durbin Mulengwa, Clement Gascua, Mangaliso Ziyane, Sindisiwe Dlamini, Gugu Maphalala, Eric Bortz, Alexander Kay, Christoph Lange, Viola Dreyer, Tanja Niemann, Stefan Niemann, Andrew Dinardo, Anna Mandalakas, Stool4tb Global Partnership

Faculty, Staff and Students Publications

Background: Approximately 1.25 million individuals died of tuberculosis in 2023, in part due to ineffective treatment. In patients with paucibacillary tuberculosis, microbiologic confirmation and drug resistance testing via respiratory specimens is challenging; hence, stool samples are increasingly used for microbiologic confirmation. Targeted next-generation sequencing (tNGS) of stool DNA may improve detection of drug-resistant (DR) tuberculosis, helping patients receive appropriate treatments.

Methods: We assessed the ability of a nanopore tNGS approach using stool to detect drug resistance in a prospective, nested cohort of consecutive participants in Eswatini with pulmonary tuberculosis confirmed via sputum culture or sputum GeneXpert Ultra from 2020 to …

Imaging Considerations For Patients With Chronic Low Back Pain: A Case Report, Kennedy Kirkpatrick, Jay D Shah, Krishna Shah

Faculty, Staff and Students Publications

Background: The incidence of low back pain, a leading cause of global disability, has increased significantly. Spinal cord stimulation (SCS) is US Food and Drug Administration-approved for treating intractable back pain, particularly in patients with prior surgical interventions.

Case report: A 43-year-old woman was referred for SCS implantation following 3 prior lumbar spinal surgeries with continued, right-sided radicular back pain. Additional diagnostic imaging was obtained, and a magnetic resonance imaging with and without contrast revealed a recurrent disc despite 3 lumbar microdiscectomies. The patient was then referred for lumbar spinal fusion, specifically anterior lumbar interbody fusion.

Conclusions: This case underscores …

Anesthetic Considerations For The Transsphenoidal Resection Of A Pituitary Tumor In An Acromegalic Patient: A Case Report, Kennedy P Kirkpatrick, Anvinh Nguyen

Faculty, Staff and Students Publications

Acromegaly can result in many physiological changes that create multiple challenges for the anesthesiologist. Excess growth hormone secretion can result in altered facies, airway obstruction, ventilation challenges, and intubation difficulties. Moreover, hormonal changes can cause electrolyte imbalances, poor glycemic regulation, and hypertension. In addition, radial arterial invasive blood pressure monitoring can be relatively contraindicated given poor ulnar collateral circulation. In this case report, we discuss an acromegalic patient with severe facial, cardiovascular, and respiratory changes who successfully underwent transsphenoidal pituitary gland resection under general anesthesia. We describe our anesthetic approach toward caring for a patient with acromegaly.

“Everything Is Electronic Health Record-Driven”: The Role Of The Electronic Health Record In The Emergency Department Diagnostic Process, Tyler G James, Courtney W Mangus, Sarah J Parker, P Paul Chandanabhumma, C M Cassady, Fernanda Bellolio, Kalyan Pasupathy, Milisa Manojlovich, Hardeep Singh, Prashant Mahajan

Faculty, Staff and Students Publications

Objectives: There is limited knowledge on how providers and patients in the emergency department (ED) use electronic health records (EHRs) to facilitate the diagnostic process. While EHRs can support diagnostic decision-making, EHR features that are not user-centered may increase the likelihood of diagnostic error. We aimed to identify how EHRs facilitate or impede the diagnostic process in the ED and to identify opportunities to reduce diagnostic errors and improve care quality.

Materials and methods: We conducted semistructured interviews with 10 physicians, 15 nurses, and 8 patients across 4 EDs. Data were analyzed using a hybrid thematic analysis approach, which blends …

Alert Design In The Real World: A Cross-Sectional Analysis Of Interruptive Alerting At 9 Academic Pediatric Health Systems, Swaminathan Kandaswamy, Julia K W Yarahuan, Elizabeth A Dobler, Matthew J Molloy, Lindsey A Knake, Sean M Hernandez, Anne A Fallon, Lauren M Hess, Allison B Mccoy, Regine M Fortunov, Eric S Kirkendall, Naveen Muthu, Evan W Orenstein, Adam C Dziorny, Juan D Chaparro

Faculty, Staff and Students Publications

Objective: To assess the prevalence of recommended design elements in implemented electronic health record (EHR) interruptive alerts across pediatric care settings.

Materials and methods: We conducted a 3-phase mixed-methods cross-sectional study. Phase 1 involved developing a codebook for alert content classification. Phase 2 identified the most frequently interruptive alerts at participating sites. Phase 3 applied the codebook to classify alerts. Inter-rater reliability (IRR) for the codebook and descriptive statistics for alert design contents were reported.

Results: We classified alert content on design elements such as the rationale for the alert's appearance, the hazard of ignoring it, directive versus informational content, …

Limosilactobacillus Reuteri Promotes The Expression And Secretion Of Enteroendocrine- And Enterocyte-Derived Hormones, Sara C Di Rienzi, Heather A Danhof, Micah D Forshee, Ari Roberts, Robert A Britton

Faculty, Staff and Students Publications

Intestinal microbes can beneficially impact host physiology, prompting investigations into the therapeutic usage of such microbes in a range of diseases. For example, human intestinal microbe Limosilactobacillus reuteri strains ATCC PTA 6475 and DSM 17938 are being considered for use for intestinal ailments, including colic, infection, and inflammation, as well as for non-intestinal ailments, including osteoporosis, wound healing, and autism spectrum disorder. While many of their beneficial properties are attributed to suppressing inflammatory responses, we postulated that L. reuteri may also regulate intestinal hormones to affect physiology within and outside of the gut. To determine if L. reuteri secreted factors …

Uterine Pgrmc2 Deficiency Attenuates Endometrial Hyperplasia And Cancer And Prolongs Lifespan In A Pten Loss-Of-Function-Induced Cancer Model, Nicole C Kelp, Cindy A Pru, Sandeep Paudel, John P Lydon, J Julie Kim, John J Peluso, James K Pru

Faculty, Staff and Students Publications

The expression of members of the progesterone receptor membrane component (PGRMC) family, particularly PGRMC1, is elevated in diverse types of cancers, particularly those of the female reproductive system. While xenograft tumor studies using human transformed cell lines in immunocompromised mice have suggested that PGRMC1 enhances tumor growth and chemoresistance, the exact role of members of the PGRMC family in cancer development in vivo remains unclear. In this study, we examined the effect of deleting Pgrmc2 on the development of endometrial hyperplasia and cancer using a murine phosphatase and tensin homologue (Pten) conditional loss-of-function model. We previously established that …

The Current State Of Redo Transcatheter Aortic Valve Replacement (Tavr) And Limitations: Why Tavr Explant Is Important As The Valve Reintervention Strategy, Grace S Lee, Gilbert Tang, Syed Zaid, Derrick Y Tam

Faculty, Staff and Students Publications

The rise of transcatheter aortic valve replacement (TAVR) over the past two decades has substantially changed the lifetime management of patients with aortic valve disease. As the indications for TAVR expand to include younger and lower-risk patients, the proportion of patients who subsequently require reintervention for failed transcatheter heart valves (THVs) will increase. The two primary options for reintervention are redo TAVR and TAVR explant followed by surgical aortic valve replacement (SAVR). The indications for redo TAVR in the short term include emergency “bailout” procedures due to malpositioning, embolization, or long-term device failure due to paravalvular leak (PVL) or valvular …

Histone Acetylation Modulators In Breast Cancer, Xueying Yuan, Jeffrey M Rosen

Faculty, Staff and Students Publications

Breast cancer is the most prevalent cancer in women worldwide. Aberrant epigenetic reprogramming such as dysregulation of histone acetylation has been associated with the development of breast cancer. Histone acetylation modulators have been targeted as potential treatments for breast cancer. This review comprehensively discusses the roles of these modulators and the effects of their inhibitors on breast cancer. In addition, epigenetic reprogramming not only affects breast cancer cells but also the immunosuppressive myeloid cells, which can facilitate breast cancer progression. Therefore, the review also highlights the roles of these immunosuppressive myeloid cells and summarizes how histone acetylation modulators affect their …

Video Discharge Instructions Increase Patient Understanding For Office-Based Procedures: A Randomized Controlled Study, Jenna Bates Maffei, Jeffrey J Song, Gal Saffati, Mohit Khera

Faculty, Staff and Students Publications

Background: Health literacy significantly influences healthcare outcomes, with poor literacy leading to worse quality of life, increased mortality, and higher readmission rates. Recent efforts to improve post-encounter education include structured teach-back methods, patient preference assessments, and standardized discharge instructions. Studies in emergency departments have shown that incorporating video discharge instructions enhances patient understanding and retention of care information. To address the gap in urology, this study aims to evaluate patient comprehension and satisfaction with video discharge instructions following clinic-based vasectomy procedures.

Methods: We performed an Institutional Review Board approved (#H-51614) unblinded randomized controlled study with written consent from each participant. …

Enhancing Lymphoma Staging: Unveiling The Potential And Challenges Of Whole-Body Magnetic Resonance Imaging, Mohadese Ahmadzade, Mohammad Ghasemi-Rad

Faculty, Staff and Students Publications

In this editorial, we comment on the article by Lambert et al, published in the recent issue of the World Journal of Radiology. The focus of the editorial is to explore the advancements in whole-body magnetic resonance imaging (WB-MRI) technology, its current clinical applications, and the challenges that must be addressed to fully realize its potential in oncological imaging. WB-MRI has emerged as a pivotal tool in oncological imaging, offering comprehensive disease assessment without ionizing radiation. Its applications span the detection of bone metastases, evaluation of hematologic malignancies, and staging of a wide range of cancers, including lymphoma, …

Liver Transplantation In 3 Cholestatic Infants With History Of Covid Exposure, Shruti Sakhuja, Kalyani R Patel, Matthew Goss, Flor M Munoz, Garrett Wortham, Megan Crawford, John A Goss, Nhu Thao Galvan

Faculty, Staff and Students Publications

The COVID-19 pandemic presents several challenges during pregnancy including thromboembolic complications, direct placental infection, transplacental transmission, and systemic hyperinflammatory state. The liver is the second most commonly affected organ in SARS-CoV-2 infection after the lungs. Mechanisms of liver injury in COVID-19 patients can include: direct viral cytopathic effect, worsening of underlying liver disease, cytokine storm, hypoxic ischemic injury, and cholangiopathy leading to persistent marked cholestasis. Here we describe 3 infants at Texas Children's Hospital with perinatal SARS-CoV-2 exposure with persistent cholestasis and histologic evidence of extrahepatic biliary obstruction suggesting underlying biliary atresia (BA) with some atypical features possibly exacerbated by …

Amniotic Fluid-Derived Mesenchymal Stem Cells As A Therapeutic Tool Against Cytokine Storm: A Comparison With Umbilical Cord Counterparts, Salvatore Vaiasicca, David W James, Gianmarco Melone, Omar Saeed, Lewis W Francis, Bruna Corradetti

Faculty, Staff and Students Publications

Background: Several immunosuppressive therapies have been proposed as key treatment options for critically ill patients since the first appearance of severe acute respiratory syndrome coronavirus 2. Mesenchymal stem cells (MSCs) from different sources have been considered for their potential to attenuate the cytokine storm associated to COVID-19 and the consequent multi-organ failure, providing evidence for safe and efficacious treatments. Among them, administration of umbilical cord-derived MSCs (UC-MSCs) has demonstrated a significant increase in survival rates, largely due to their potent immunosuppressive properties.

Methods: We applied next-generation sequencing (NGS) analysis to compare the transcriptomic profiles of MSCs isolated from two gestational …

The Diagnostic Role Of Pharmacological Provocation Testing In Cardiac Electrophysiology: A Clinical Consensus Statement Of The European Heart Rhythm Association And The European Association Of Percutaneous Cardiovascular Interventions (Eapci) Of The Esc, The Esc Working Group On Cardiovascular Pharmacotherapy, The Association Of European Paediatric And Congenital Cardiology (Aepc), The Paediatric & Congenital Electrophysiology Society (Paces), The Heart Rhythm Society (Hrs), The Asia Pacific Heart Rhythm Society (Aphrs), And The Latin American Heart Rhythm Society (Lahrs), Elijah R Behr, Bo Gregers Winkel, Bode Ensam, Alberto Alfie, Elena Arbelo, Colin Berry, Marina Cerrone, Giulio Conte, Lia Crotti, Cecilia M Gonzalez Corcia, Juan Carlos Kaski, Koonlawee Nademanee, Pieter G Postema, Silvia Priori, Vincent Probst, Georgia Sarquella-Brugada, Eric Schulze-Bahr, Rafik Tadros, Arthur Wilde, Jacob Tfelt-Hansen, Christian Wolpert, Alejandro Cuesta, Peter Damman, Dobromir Dobrev, Fabrizio Drago, Kristina Haugaa, Andrew Krahn, Ulrich Krause, Pier D Lambiase, Carlo Napolitano, Katja E Odening, Wataru Shimizu, Christian Veltmann

Faculty, Staff and Students Publications

The pharmacological provocation test is a pivotal tool in cardiac electrophysiology for the diagnosis of potential causes of sudden cardiac death, sudden cardiac arrest (SCA), arrhythmias, symptoms, or ECG abnormalities. The 2022 European Society of Cardiology Guidelines for the Treatment of Ventricular Arrhythmias and Prevention of Sudden Cardiac Death offered guidance on provocation testing but did not describe the indications and requirements in depth. This clinical consensus statement, led by the European Heart Rhythm Association and approved by major international stakeholders, aims to advise the general cardiologist and the arrhythmia expert who to test and when, where, and how to …

Characterization Of Hepatic Pathology During Azoxymethane-Induced Acute Liver Failure, Shadikchhya Maya Bhattarai, Ashwin Jhawer, Gabriel Frampton, Eleonora Troyanovskaya, Sharon Demorrow, Matthew Mcmillin

Faculty, Staff and Students Publications

Background: Acute liver failure (ALF) is a loss of liver function due to a severe hepatic insult. Studies utilizing the azoxymethane (AOM) mouse model of ALF, which also generates hepatic encephalopathy, have primarily focused on development of neurological deficits. However, the molecular processes that generate liver damage have not been fully characterized. Therefore, a more comprehensive characterization of the hepatic consequences of AOM toxicity is needed to better understand this disease model.

Aim: To identify molecular pathology contributing to hepatic injury during the progression of AOM-induced ALF.

Methods: C57BL/6 mice were injected with AOM to produce ALF and hepatic encephalopathy. …

Dock2 Deficiency And Gata2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (Covid-19) Pneumonia, Sajjad Biglari, Leila Youssefian, Mohammad Amin Tabatabaiefar, Amir Hossein Saeidian, Bahareh Abtahi-Naeini, Erfan Khorram, Roya Sherkat, Atefeh Sohanforooshan Moghaddam, Fatemeh Mohaghegh, Maziyar Rahimi, Hamid Rahimi, Sharareh Babaei, Mohammad Shahrooei, Nikoo Mozafari, Shirin Zaresharifi, Fatemeh Vahidnezhad, Vida Homayouni, Lam C Tsoi, Johann E Gudjonsson, Hakon Hakonarson, Jean-Laurent Casanova, Emmanuelle Jouanguy, Vivien Béziat, Qian Zhang, Aurélie Cobat, Hassan Vahidnezhad

Faculty, Staff and Students Publications

The life-threatening coronavirus disease 2019 (COVID-19) affects about 1 in 1,000 healthy people under 50 without underlying conditions. Among patients with critical COVID-19 pneumonia, rare germline variants at genes controlling type I IFN immunity have been reported in up to 5% of patients. Causal etiologies in 80-85% of cases are still unknown. We analyzed two families with hypoxemic COVID-19 pneumonia for known single-gene inborn errors of immunity. In Family 1, two siblings with critical COVID-19 were homozygous for a DOCK2 variant, c.3624+5G>A. DOCK2 deficiency is a known T-cell disorder underlying severe viral diseases. The variant resulted in skipping exon …

Successful Coaching Behaviors: Challenges And Opportunities In Relationships, Dustan Watkins, Madeline Rock, Elizabeth M Vaughan, Jessica M Kirschmann, Craig A Johnston

Faculty, Staff and Students Publications

Health and wellness coaching is a valuable intervention to help individuals improve their long-term physical, psychological, and social well-being. Coaches, individuals who employ motivational strategies through trusting relationships, have shown success in supporting individuals’ pursuit in creating and sustaining healthy lifestyle changes. We discuss the theoretical principles underlying coaching practices and present essential coaching behaviors that influence the quality and strength of the client–coach relationship. We acknowledge scenarios in which the client–coach relationship has grown stale or is incompatible; in these cases, we propose lateral referrals, which we define as identifying and redirecting clients to another coach possessing similar …

Pulmonary Function Testing In Pediatric Allogeneic Stem Cell Transplant Recipients To Monitor For Bronchiolitis Obliterans Syndrome: A Systematic Review, William A Gower, Maximiliano Tamae-Kakazu, Shivanthan Shanthikumar, Saumini Srinivasan, Erin E Reardon, Amisha V Barochia, Edward Charbek, Charlotte Calvo, Pi Chun Cheng, Shailendra Das, Stella M Davies, Jessica Gross, Ajay Sheshadri, Christoper T Towe, Samuel B Goldfarb, Narayan P Iyer

Faculty, Staff and Students Publications

Background: Bronchiolitis obliterans syndrome (BOS) represents a significant source of morbidity and non-relapse mortality among children and young adults treated with allogeneic hematopoietic stem cell transplantation (aHSCT). Pulmonary function testing (PFT) pre- and post-aHSCT may allow for pre-symptomatic detection of BOS, and thus early intervention. Current guidelines and practices vary regarding which tests to perform and timing relative to transplant. A systematic review evaluating PFT before and after pediatric aHSCT was conducted to inform American Thoracic Society clinical practice guidelines on detection of BOS.

Objective: To determine the optimal approach to conducting PFT prior to and after pediatric aHSCT.

Study …

Combined Targeting Of Glioblastoma Stem Cells Of Different Cellular States Disrupts Malignant Progression, Chenfei Lu, Tao Kang, Junxia Zhang, Kailin Yang, Yang Liu, Kefan Song, Qiankun Lin, Deobrat Dixit, Ryan C Gimple, Qian Zhang, Zhumei Shi, Xiao Fan, Qiulian Wu, Daqi Li, Danyang Shan, Jiancheng Gao, Danling Gu, Hao You, Yangqing Li, Junlei Yang, Linjie Zhao, Zhixin Qiu, Hui Yang, Ningwei Zhao, Wei Gao, Weiwei Tao, Yingmei Lu, Yun Chen, Jing Ji, Zhe Zhu, Chunsheng Kang, Jianghong Man, Sameer Agnihotri, Qianghu Wang, Fan Lin, Xu Qian, Stephen C Mack, Zhibin Hu, Chaojun Li, Michael D Taylor, Ning Liu, Nu Zhang, Ming Lu, Yongping You, Jeremy N Rich, Wei Zhang, Xiuxing Wang

Faculty, Staff and Students Publications

Glioblastoma (GBM) is the most lethal primary brain tumor with intra-tumoral hierarchy of glioblastoma stem cells (GSCs). The heterogeneity of GSCs within GBM inevitably leads to treatment resistance and tumor recurrence. Molecular mechanisms of different cellular state GSCs remain unclear. Here, we find that classical (CL) and mesenchymal (MES) GSCs are enriched in reactive immune region and high CL-MES signature informs poor prognosis in GBM. Through integrated analyses of GSCs RNA sequencing and single-cell RNA sequencing datasets, we identify specific GSCs targets, including MEOX2 for the CL GSCs and SRGN for the MES GSCs. MEOX2-NOTCH and SRGN-NFκB axes play important …

Carotid Peak Flow Velocity Variation As A Surrogate Of Aortic Peak Flow Velocity Variation In A Pediatric Population, Federico Cristiani, Juan Pablo Bouchacourt, Juan Riva, Pablo Motta

Faculty, Staff and Students Publications

Background: Carotid peak velocity variation (ΔVpeakCar) is an alternative to aortic peak velocity variation (ΔVpeakAo) and has been used in the pediatric population. Children's physiology and anatomy are heterogeneous throughout their growth. For this reason, the predictive value of ΔVpeakCar as a surrogate of ΔVpeakAo can vary at different ages. We hypothesize that the ability of ΔVpeakCar as a surrogate of ΔVpeakAo changes throughout childhood.

Aim: Analyze the concordance and the tracking ability of ΔVpeakCar and the ΔVpeakAo at different stages of development.

Methods: Patients from 0 to 12 years were included. Three groups were defined: under 12 months (G1), …

Haploinsufficiency Of Itsn1 Is Associated With A Substantial Increased Risk Of Parkinson’S Disease, Thomas P Spargo, Chloe F Sands, Isabella R Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C Butts, Ruth B De-Paula, Youngdoo Kim, Fengyuan Hu, Quanli Wang, Dimitrios Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo Del Angel, Daniel G Calame, Hiba Saade, Laurie Robak, Ben Hollis, Vishnu A Cuddapah, Huda Y Zoghbi, Joshua M Shulman, Slavé Petrovski, Ismael Al-Ramahi, Ioanna Tachmazidou, Ryan S Dhindsa

Faculty, Staff and Students Publications

Despite its significant heritability, the genetic basis of Parkinson's disease (PD) remains incompletely understood. Here, in analyzing whole-genome sequence data from 3,809 PD cases and 247,101 controls in the UK Biobank, we discover that protein-truncating variants in ITSN1 confer a substantially increased risk of PD (p = 6.1 × 10

The Feasibility And Safety Of Robot-Assisted Vaginal Natural Orifice Transluminal Endoscopic Surgery (Ra-Vnotes) For Gynecologic Disease: 298-Case Series, Qiannan Yang, Daniel Y Lovell, Yingchun Ma, Chunhua Zhang, Xiaoming Guan

Faculty, Staff and Students Publications

Objectives: To explore the feasibility and surgical outcomes of robot-assisted vaginal natural orifice transluminal endoscopic surgery (RA-vNOTES) for women suffering from gynecologic disease.

Methods: We performed an observational study reporting and analyzing the perioperative outcomes of 298 patients with gynecologic disease who underwent RA-vNOTES in a single institution from June 2019 to August 2024.

Results: A total of 298 patients with a median age of 41 years and median body mass index of 29 kg/m2 underwent RA-vNOTES. The primary indications for surgery were endometriosis (43.62%), chronic pelvic pain (11.07%), abnormal uterine bleeding (20.81%), and uterine leiomyomata (14.77%). A total of …

Effects Of Intensive Blood Pressure Treatment On Orthostatic Hypertension: Individual Level Meta-Analysis, Stephen P Juraschek, Jiun-Ruey Hu, Jennifer L Cluett, Carol Mita, Lewis A Lipsitz, Lawrence J Appel, Nigel S Beckett, Barry R Davis, Rury R Holman, Edgar R Miller, Kenneth J Mukamal, Ruth Peters, Jan A Staessen, Addison A Taylor, Jackson T Wright, William C Cushman

Faculty, Staff and Students Publications

Objective: To determine the effects of intensive blood pressure treatment on orthostatic hypertension.

Design: Systematic review and individual participant data meta-analysis.

Data sources: MEDLINE, Embase, and Cochrane CENTRAL databases through 13 November 2023.

Inclusion criteria: Population: ≥500 adults, age ≥18 years with hypertension or elevated blood pressure; intervention: randomized trials of more intensive antihypertensive drug treatment (lower blood pressure goal or active agent) with duration ≥6 months; control: less intensive antihypertensive drug treatment (higher blood pressure goal or placebo); outcome: measured standing blood pressure.

Main outcomes: Orthostatic hypertension, defined as an increase in systolic blood pressure ≥20 mm Hg or …