Medicine and Health Sciences Commons^™

Amino Acids And Lean Mass Accretion In Preterm Neonates, Antonio C Ramos Dos Santos, Marta L Fiorotto, Teresa A Davis

Faculty, Staff and Students Publications

Purpose of review: This review evaluates recent evidence on how total protein and energy intake, amino acid composition, and nutrient delivery modality influence protein synthesis in preterm neonates, with the goal of informing nutritional strategies to support optimal lean mass accretion and growth.

Recent findings: Preterm neonates exhibit anabolic resistance to feeding due to impaired insulin and amino acid signaling in skeletal muscle. Enteral nutrition, especially fortified human milk, supports better lean mass accretion and neurodevelopment than parenteral nutrition. Intermittent bolus feeding and pulsatile leucine supplementation during continuous feeding further enhance mTORC1-dependent translation initiation signaling and protein synthesis efficiency in …

School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Meagan C Fitzpatrick, Chad R Wells, Abhishek Pandey, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani

Faculty, Staff and Students Publications

No abstract provided.

Unraveling Posttranslational Modification Complexity: Advances In Quantitative Histone Proteoform Mass Spectrometry, Karl F Poncha, Alyssa T Paparella, Nicolas L Young

Faculty, Staff and Students Publications

Histone proteins and their posttranslational modifications are central to chromatin structure and function. These modifications often occur in combinations, generating a diverse array of histone proteoforms that contribute to the dynamic regulation of chromatin architecture. Advancements in mass spectrometry-based proteomics, particularly top-down and middle-down approaches, have significantly enhanced our ability to characterize these proteoforms and elucidate PTM crosstalk. This review provides an analysis of the epigenetic machinery involved in the addition, recognition, and removal of histone PTMs, emphasizing the complexity introduced by histone variants and combinatorial PTM patterns. We examine the challenges and limitations of traditional antibody-based methods for PTM …

Platelet Extravasation In The Microvasculature: An Under-Appreciated Role For Platelets, Justin A Courson, Vahid Afshar-Kharghan, Alan R Burns, Rolando E Rumbaut

Faculty, Staff and Students Publications

In recent years, evidence has accumulated highlighting the presence and role of platelet extravasation - wherein platelets accumulate in tissue parenchyma - at a variety of sites throughout the body. While platelets are traditionally known for their roles in hemostasis and thrombosis, it is evident that platelets are potent mediators of inflammation across an array of physiological and pathological contexts. While anucleate and small in size, platelets contain a rich diversity of molecules in their granules capable of modulating cell proliferation, tissue repair, and a host of immune responses. There is growing evidence that platelet extravasation out of the vascular …

Executive Summary Of The Kdigo 2026 Clinical Practice Guideline For The Management Of Anemia In Chronic Kidney Disease (Ckd), Jodie L Babitt, Jeffrey S Berns, Biykem Bozkurt, Rebecca S Cheung Khedairy, Yarieli Cuevas, Emmanuel E Effa, Michele F Eisenga, Steven Fishbane, Yelena Z Ginzburg, Volker H Haase, S Susan Hedayati, Siah Kim, José A Moura-Neto, Evi V Nagler, Patrick Rossignol, Manisha Sahay, Tetsuhiro Tanaka, Angela Yee-Moon Wang, David C Wheeler, Karen A Robinson, Lisa M Wilson, Renee F Wilson, Amy Earley, Elie A Akl, Marcello Tonelli

Faculty, Staff and Students Publications

The Kidney Disease: Improving Global Outcomes (KDIGO) 2026 Clinical Practice Guideline for the Management of Anemia in Chronic Kidney Disease (CKD) represents an update to the guideline published in 2012. Its scope includes diagnosis and evaluation of anemia; use of iron to treat iron deficiency and anemia in CKD; use of erythropoiesis-stimulating agents and hypoxia-inducible factor-prolyl hydroxylase inhibitors to treat anemia in CKD; and red blood cell transfusions to treat anemia in CKD. The guideline has been developed with patient partners, healthcare providers, and researchers around the world, with the goal to generate a useful resource for healthcare providers and …

Gould Edu: Cluster-Randomized Trial Of An Educational Intervention To Improve Lipid-Lowering Guideline Adherence, Christopher P Cannon, Christie M Ballantyne, Deepak L Bhatt, James A De Lemos, Qi Gao, Naishu Kui, Robert S Rosenson, Katherine E Mues, Jason Exter, Shushama Alam, Mikhail N Kosiborod

Faculty, Staff and Students Publications

Background: Adherence to lipid-lowering therapy (LLT) guidelines is suboptimal, leading to poor achievement of low-density lipoprotein cholesterol (LDL-C) goals and elevated risk for atherosclerotic cardiovascular disease (ASCVD) events.

Objectives: The purpose of this study was to determine whether an educational intervention targeting physicians improves optimization of LLT over 1 year for patients with ASCVD.

Methods: GOULD (Getting to an Improved Understanding of Low-Density Lipoprotein Cholesterol and Dyslipidemia Management) EDU (Education) was a 1-year extension in a subset of sites in the GOULD prospective, observational registry of United States patients with ASCVD. In a cluster-randomized, stepped-wedge design, sites were randomized to …

Esophageal Myotomy And Risk Of Esophageal Cancer And Mortality In Achalasia: Real-World Cohort Study, Fouad Jaber, Mohamad Ali Ibrahim, Mohammed Jaber, Youssef Soliman, Mai A Khalaf, Tara Keihanian, Fares Ayoub, Mohamed O Othman, Salmaan Jawaid

Faculty, Staff and Students Publications

Background and study aims: Achalasia is associated with increased risk of esophageal cancer, particularly squamous cell carcinoma. Although esophageal myotomy improves dysphagia, its impact on cancer risk and mortality remains unclear.

Patients and methods: We conducted a retrospective cohort study using the TriNetX research network, including adults (≥ 18 years) with achalasia confirmed by esophageal manometry. Patients were categorized based on treatment of those undergoing esophageal myotomy (peroral endoscopic myotomy [POEM] or laparoscopic Heller myotomy [LHM]) and those managed without myotomy. Patients with prior esophagectomy or malignancies associated with increased esophageal cancer risk were excluded. The primary outcome was incident …

Findings And Recommendations From The State Of The Art (Sota) Conference On Nursing Research To Improve Veteran Outcomes, Amelia E Schlak, Sarah Krein, Laura A Petersen, David Atkins, Catherine Battaglia, Elizabeth Burkhart, Renee Colsch, Marguerite Daus, Heather Gilmartin, Nipa Kamdar, Melissa Knox, Ann Kutney-Lee, Christine M Olney, Kathryn Rugen, Tracy Weistreich, Sheila Cox Sullivan, On Behalf The Nursing Sota Planning Committee

Faculty, Staff and Students Publications

The Veterans Health Administration (VHA), the largest employer of nurses in the United States, has more than 120,000 nursing personnel providing care to over 9 million Veterans across diverse settings. Despite nursing's central role in delivering and sustaining care, research on strengthening the nursing workforce and optimizing nursing practice has remained underdeveloped in VHA. To address this gap, VHA's Office of Research and Development, in partnership with the Office of Nursing Services, convened a State of the Art (SOTA) conference in November 2023 focused on nursing. The Nursing SOTA brought together nurses, researchers, operational leaders, and other stakeholders to review …

Hypothyroidism Is Associated With Higher Healthcare Utilisation And Higher Need For Blood Transfusion After Primary Total Knee Arthroplasty (Tka) In Patients With Osteoarthritis: A National Inpatient Sample Analysis, Sumanth R Chandrupatla, Kranti C Rumalla, Jasvinder A Singh

Faculty, Staff and Students Publications

Purpose: To examine the association of hypothyroidism with primary total knee arthroplasty (TKA) outcomes in adults with primary underlying diagnosis of osteoarthritis (OA).

Methods: We identified a prospective cohort of patients in the 2016-2020 national inpatient sample (NIS) that received primary TKA with an underlying diagnosis of OA, identified using International Classification of Diseases, Tenth Revision, Common Modification (ICD-10-CM) and Procedure Coding System (ICD-10-PCS) codes in the primary procedure and diagnosis positions, respectively. We performed multivariable-adjusted regression analyses for healthcare utilisation (length of hospital stay, hospital charges and discharge destination) and clinical outcomes (blood transfusion; prosthetic fracture, dislocation or infection; …

Using Medication Pass Analysis To Examine Longitudinal Changes In Va Inpatient Nurse Staffing And Workload Before And Through The Covid-19 Pandemic: 2019-2022, Melissa K Knox, Chase S Eck, Lynette Dorsey, Paras D Mehta, Christine Yang, Laura A Petersen

Faculty, Staff and Students Publications

Background: The COVID-19 pandemic resulted in extended disruption to the health care system. National-level data-driven comparisons of inpatient nurse staffing and workload before and during the pandemic have been limited.

Objectives: Assess the extent to which registered nurse (RN) staffing and workload changed from prepandemic levels in a national integrated health care system.

Research design: Longitudinal descriptive analysis. Medication pass analysis using bar code medication administration data for the peak-time medication pass (PTM) assessing year-over-year changes from 2019 to 2022. To assess significance of year-over-year changes in means we used the Welch 2-sample t test.

Subjects: Staff (N=42,999) administering PTM …

Healthcare Transition In Spina Bifida: A National Mixed Method Study, Betsy Hopson, Kathy H Huen, Molly B Richardson, Rhonda G Cady, Jennifer T Queally, Judy Thibadeau, Ellen Fremion

Faculty, Staff and Students Publications

Introduction: Adolescents and young adults (AYA) with spina bifida (SB) face substantial challenges during the transition from pediatric to adult healthcare, including fragmented systems, limited adult provider availability, and gaps in self-management readiness. Despite national guidelines, little is known about how transition practices are implemented across the Spina Bifida Association (SBA) Clinical Care Partner (CCP) network. This study examined clinician perspectives on current practices, barriers, facilitators, and definitions of successful healthcare transition (HCT).

Methods: Using an explanatory sequential mixed methods design, we first conducted a 47-item survey with clinicians from SBA CCP clinics (n = 20/32; 62.5 % response rate). …

Ptpn1 Regulation Via Ybx1-Ptbp1 Interaction Promotes Fibroblast Activation And Fibrotic Remodeling In The Lung, Huibing Liu, Cong Xia, Yingying Zhang, Yulong Gan, Lianhui Cheng, Xuqian Wang, Airu Chang, Wenyu Zhao, Bin Li, Yaxuan Wang, Yajun Li, Ivan Rosas, Juntang Yang, Guoying Yu, Lan Wang

Faculty, Staff and Students Publications

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial pneumonia of unknown etiology. Its pathogenesis involves complex multicellular interactions and signaling pathways, with fibroblast-to-myofibroblast transition (FMT) being critical for fibrogenesis. Although the transcription factor Y-box binding protein 1 (YBX1) regulates processes such as cell proliferation, transcription, translation, and DNA repair, its role in IPF remains undefined. Here, we demonstrate that YBX1 overexpression significantly promotes transforming growth factor-β1 (TGF-β1)-induced pulmonary FMT, leading to substantially increased extracellular matrix (ECM) deposition in primary human (PHLFs) and mouse (PMLFs) lung fibroblasts. Conversely, YBX1 inhibition markedly suppresses TGF-β1-driven aberrant fibroblast migration and activation. Mechanistically, YBX1 …

Left Atrial Appendage Closure Devices: A Contemporary Review Of Techniques, Tips And Tricks, Kamran Namjouyan, Hafeez Ul Hassan Virk, Affan Rizwan, Muzamil Khawaja, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Atrial fibrillation (AF) affects approximately 3%-5% of adults and is projected to double in prevalence by 2060, significantly increasing the burden of thromboembolic stroke. This risk is largely attributed to thrombus formation within the left atrial appendage (LAA), particularly in nonvalvular AF, where the LAA's trabeculated anatomy, diverse morphologies (e.g., chicken wing, windsock, cactus, cauliflower), and impaired contractility allows for blood stasis and thrombogenesis. As a result, the LAA has become a focus for stroke prevention strategies. This review demonstrates current evidence on LAA closure by discussing patient selection, anatomical feasibility, procedural workflow, imaging guidance (transesophageal echocardiography vs. intracardiac echocardiography), …

The ‘Obesity Paradox’ In Patients Undergoing Transcatheter Aortic Valve Implantation. A Specialized Narrative Review, Johao Escobar, Iqra Riaz, Muzamil Khawaja, Hafeez Ul Hassan Virk, Joshua Hahn, Fu''Ad Al-Azzam, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Obesity has long been identified as a noteworthy risk factor for cardiovascular diseases, including aortic stenosis. Nevertheless, an unexplained phenomenon known as the obesity paradox has arisen in the context of transcatheter aortic valve implantation (TAVI), inquiring conventional beliefs. The obesity paradox refers to better clinical outcomes observed in obese individuals undergoing TAVI. These include reduced all-cause mortality, lower rates of procedural complications, and improved long-term survival rates compared to their lean counterparts. Several theories have been proposed to explain the obesity paradox in TAVI. One of the most popular is the adipose tissue-mediated cardioprotective effect hypothesis. It is known …

A Practical Approach To The Management Of Percutaneous Coronary Intervention Complications, Tanawat Attachaipanich, Hafeez Ul Hassan Virk, Muzamil Khawaja, Mahboob Alam, Ravi S Hira, Jacob A Doll, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Introduction: Despite advances in stent design, pharmacotherapy, and procedural techniques that have improved percutaneous coronary intervention (PCI) outcomes and reduced PCI-related complications, these events still occur and are associated with adverse outcomes. Moreover, complex PCI procedures, which predispose to increased risk of complications, are increasingly performed. Understanding risk factors, underlying mechanisms, evidence-based management, and preventive strategies are essential to optimize procedural outcomes. This review aims to summarize current evidence and highlight gaps in knowledge related to PCI-associated complications.

Methods: This narrative review used a focused PubMed search through October 2025, prioritizing randomized trials, large observational studies, guidelines, and consensus statements. …

Duration Of Antimicrobial Therapy In Cardiovascular Implantable Electronic Device Associated Systemic Infections: A Retrospective Analysis, Emily Y Xiao, Patrick T Lynch, Sarwat Khalil, Derrick A Draeger, Alexandra M Lewis, Faiz M Baqai, Mihail G Chelu, M Rizwan Sohail

Faculty, Staff and Students Publications

Background: While the need for complete device removal is well-established for cardiovascular implantable electronic device (CIED) infections, there is insufficient evidence on the optimal duration of antimicrobial therapy.

Objectives: To examine how antimicrobial duration affects clinical outcomes of patients presenting with CIED-associated bacteremia and lead endocarditis.

Design: This is a retrospective cohort study conducted at a quaternary care hospital in Houston, TX, USA.

Methods: Patients who underwent device removal for a primary indication of bacteremia or lead endocarditis over a 10-year period were stratified by prescribed duration of antibiotics as ⩽2 weeks or >2 weeks post-extraction. Measured outcomes included all-cause …

Midterm Outcomes Of The Self-Expanding Navitor Transcatheter Heart Valve: A Systematic Review And Meta-Analysis., Sahar Samimi, Chloe Kharsa, Mangesh Kritya, Joe Aoun, Syed Zaid, Nadeen N Faza, Stephen H Little, Neal S Kleiman, Michael J Reardon, Sachin S Goel

Faculty, Staff and Students Publications

• A 19-study meta-analysis (7743 patients) found high Navitor technical/device success.
• ≥Moderate PVL was low: 1.3% at 30 days and 0.6% at 1 year.
• Pacemaker implantation was 16.7% at 30 days and 20.4% at 1 year.
• Thirty-day outcomes were favorable: all-cause mortality 1.5% and stroke 1.7%.

Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, Hannah E Cabre, Courtney M Peterson, Gareth R Dutton, Kimberly L Drews, Stephanie T Broyles, Robert Dubin, Laura Q Rogers, Catherine Champagne, Dennis T Villareal, Daniel S Hsia, Leanne M Redman, Corby K Martin

Faculty, Staff and Students Publications

Background: Understanding the impact of nutrition on human aging requires long-term trials in young, healthy, unmedicated adults. As part of the Dietary Approaches for Longevity and Health (DiAL Health) pilot project, we evaluated strategies for recruiting this population for aging-related dietary intervention studies.

Methods: We analyzed recruitment costs to enroll 70 participants (ages 25-49, BMI 22.0-29.9 kg/m2) across two DiAL Health sites and used NHANES data (2017-March 2020) to estimate the proportion of U.S. adults meeting partial trial eligibility. Additionally, a formative study surveyed 492 U.S. adults (≥18 years) to assess interest in aging-focused dietary trials.

Results: Of 2049 applicants …

Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift

Faculty, Staff and Students Publications

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), exhibits marked racial disparities in incidence, progression, and clinical outcomes. While diet, lifestyle, and socioeconomic factors have been shown to influence these disparities, biological mechanisms underlying racial differences in MASLD risk remain poorly understood. We hypothesized that race-associated variation in hepatic gene expression may contribute to differential susceptibility and progression of MASLD. To test this hypothesis, we analyzed publicly available gene expression data from liver biopsies obtained from over 300 Black and White individuals undergoing bariatric surgery. Gene expression profiles were compared across four histological stages: …

Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso

Faculty, Staff and Students Publications

Wastewater-based epidemiology (WBE) is the analysis of wastewater to detect pathogen levels or activity for public health awareness or action. Pioneered in the 1940s, WBE underwent a resurgence during the COVID-19 pandemic, providing important information about number of cases, outbreaks, and seasonal impact. With advancements in detection technologies and growing interest in environmental surveillance, WBE is poised to become a standard practice in public health monitoring. Here, we provide an overview of the current state of the art of pathogen WBE, including methods of molecular detection, analysis of wastewater data, real-world applications and programs, public health interventions, and benefits and …

Inducible Pou Class 2 Homeobox 3 Expression In Human Intestinal Organoids As A Model Of Human Tuft Cells, Carolyn Bomidi, Luqiong Wang, Hoa Nguyen-Phuc, Mary K Estes, Sarah E Blutt

Faculty, Staff and Students Publications

No abstract provided.

Identification Of Cand1 As A Dna-Dependent Protein Kinase-Regulated Coactivator Of Androgen Receptor And The Arv7 Splice Variant, Ross A Hamilton, Basil Paul, Ping Yi, Kimal Rajapakshe, Anil K Panigrahi, Sandra L Grimm, Cristian Coarfa, Anna Malovannaya, Nancy L Weigel, David M Lonard, Charles E Foulds

Faculty, Staff and Students Publications

ARv7, the most prevalent androgen receptor (AR) variant in castration-resistant prostate cancer, lacks the ligand binding domain (LBD), rendering it resistant to LBD-targeted therapies. Identifying new therapeutic targets requires defining the coregulators and associated regulatory enzymes that govern AR and ARv7 transcriptional activity. Here, we have developed a cell-free DNA pulldown assay employing androgen response elements (AREs) to isolate and characterize the AR- and ARv7-associated coregulator complexes formed on DNA. Mass spectrometry analyses of ARE DNA pulldowns revealed previously unrecognized AR and ARv7 associating coregulators, such as cullin-associated NEDD8-dissociated protein 1 (CAND1), in addition to previously known coregulators. ARv7 showed …

Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen

Faculty, Staff and Students Publications

T cell therapy has proven challenging for pancreatic ductal adenocarcinoma (PDAC), partly due to heterogeneous expression of tumor-associated antigens (TAAs). To address tumor heterogeneity and mitigate immune evasion, an ex vivo expanded, polyclonal, T helper 1 cell-polarized T cell product targeting five TAAs—PRAME, SSX2, MAGEA4, Survivin and NY-ESO-1—was developed. These antigens were chosen based on their tumor specificity, oncogenicity, immunogenicity and level of expression. In a phase 1/2 trial, this autologous nonengineered T cell product was administered (1 × 107 cells m−2 per infusion) monthly to patients with advanced PDAC responding (arm A, n = 13) or refractory (arm B, …

From Local Burden To Global Threat: Neglected Tropical Diseases In An Era Of Climate Change And Human Mobility, Francisco Javier Membrillo, Juan-Carlos Navarro, Diana Marcela Pava-Garzón, Jill Weatherhead, José A Suárez, Alfonso J Rodriguez-Morales

Faculty, Staff and Students Publications

No abstract provided.

Therapeutic Potential Of Hookworm Proteins In Promoting Regulatory Immune Responses To Modulate Trypanosoma Cruzi Induced Liver Inflammation And Oxidative Stress, Maria Jose Villar, Cristina Poveda, Bin Zhan, Maya Gonsoulin, Kathryn M Jones

Faculty, Staff and Students Publications

Background: Chronic Trypanosoma cruzi infection causes significant liver pathology, and current antiparasitic treatments often worsen hepatic damage. Hookworm-derived proteins have shown immunomodulatory effects in inflammatory diseases, including T. cruzi-induced myocarditis.

Objective: This study evaluates recombinant hookworm proteins AIP-1 and AIP-2 for treating liver inflammation in a murine model of chronic Chagas disease (CD).

Methods: Female BALB/c mice infected with T. cruzi were treated with AIP-1 or AIP-2 (1 mg/kg) for seven days. Controls were untreated or received aspirin (25 mg/kg) for 14 days. Liver tissues were analyzed for parasite burden (quantitative polymerase chain reaction - qPCR), histopathology (H&E, Picrosirius Red), …

Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li

Faculty, Staff and Students Publications

Human papillomavirus (HPV) is a major driver of global cancer incidence, responsible for nearly all cervical cancers and a significant proportion of oropharyngeal, anal, and other anogenital cancers. Despite the availability of effective vaccines, HPV-associated cancers persist due to persistent infection, immune evasion, and the virus's ability to integrate into the host genome, contributing to molecular heterogeneity and therapeutic resistance. Here, we summarize molecular heterogeneity and the emerging combined therapeutic strategies. High-risk HPV types, notably HPV16 and HPV18, initiate carcinogenesis through persistent infection of epithelial basal cells and through the actions of the E6 and E7 oncoproteins, which disrupt the …

Acmg Medical Directors’ Special Interest Group Survey: Current Challenges For Medical Genetics Clinics, Mark Dulchavsky, Catherine E Keegan, Nathaniel H Robin, Chad Haldeman-Englert, Shweta U Dhar, Fuki M Hisama

Faculty, Staff and Students Publications

Purpose: The American College of Medical Genetics and Genomics Medical Directors' Special Interest Group (SIG) began in 2021 as a forum for directors of medical genetics clinical groups to share questions, concerns, current practices, and solutions regarding clinical operations. We report on the first 4 years of the SIG-its membership growth and SIG activities. We also present quantitative and qualitative results of a nationwide survey of 66 SIG members addressing recurrent questions from members regarding: wait times, volume of referrals, clinical workload expectations, and independent practice of genetic counselors (GCs) and advanced practice providers.

Methods: Cross-sectional survey of American College …

Correction: Establishing Standardized Transthoracic Echocardiography Reference Ranges For Mouse Models: Insights Into The Impact Of Anesthesia, Sex, And Age, Manuela A Oestereicher, Christopher S Ward, Elida Schneltzer, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Ghina Bou About, Mohammed Selloum, Hamid Meziane, Michelle Stewart, Lydia Teboul, Clare Norris, Dale Pimm, Marina Kan, Federico López Gómez, Robert Wilson, Mayra Monroy, Sheraz Pasha, Eva Zabrodska, Jan Prochazka, David Pajuelo Reguera, Zuzana Nichtova, Yann Herault, Sara Wells, Helen Parkinson, Jason D Heaney, Radislav Sedlacek, Xiang Gao, Martin Hrabe De Angelis, Nadine Spielmann

Faculty, Staff and Students Publications

This corrects the article "Establishing standardized transthoracic echocardiography reference ranges for mouse models: insights into the impact of anesthesia, sex, and age" in volume 12, 1695034.

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …

Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González

Faculty, Staff and Students Publications

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …