Medicine and Health Sciences Commons^™

Hot-Melt Extrusion-Based Solid Dispersion Of Aripiprazole: Preparation, Characterization, And In Vitro Evaluation, Nensi Raytthatha, Jigar Ramanlal Vyas

The Thai Journal of Pharmaceutical Sciences

Background: Aripiprazole (ARI), a biopharmaceutics classification system (BCS) class IV drug, exhibits poor water solubility and low permeability, resulting in limited bioavailability. Addressing these challenges requires innovative approaches to enhance solubility. This study focuses on the development and evaluation of solid dispersions (SDs) of ARI using “hot-melt extrusion,” (HME) a scalable and solvent-free method known for its ability to create stable amorphous structures. Soluplus^® (SP) and Kollidon® 30 were employed as hydrophilic polymeric carriers to improve the solubility and stability of the amorphous drug form. Results: SDs were prepared by taking drugs and carriers (SP and Kollidon …

Saudi Heart Association Position Statement On Nt-Probnp For Cardiovascular Risk Screening In Asymptomatic Adults With Type 2 Diabetes Mellitus, Waleed Alhabeeb, Adel , Tash, Abdullah Mohammed Abdullah Arabe, Lamya Alzubaidi, Ayman Al Hayek, Mohammed Ridha Al Safi, Malak Atallah Almashali

Journal of the Saudi Heart Association

Background: Type 2 diabetes mellitus (DM) is a chronic disease with a rapidly increasing prevalence, posing a significant public health challenge worldwide and in Saudi Arabia. Cardiovascular disease (CVD) is the leading cause of death among patients with T2DM, necessitating early detection and intervention to prevent disease progression. Elevated natriuretic peptide levels, particularly N-terminal pro–B-type natriuretic peptide (NT-proBNP), are promising biomarkers for CVD risk stratification in individuals with T2DM. However, the integration of these biomarkers in clinical management remains limited.

Methods: Published evidence and existing guidelines/consensuses related to the use of NT-proBNP for CVD risk stratification in T2DM patients were …

Staff Education For Effective Patient Handoff, Kaylonn Amundson

Walden Dissertations and Doctoral Studies

This staff education project was initiated to address the lack of standardized handoff procedures which was found to have contributed to an adverse outcome for a hospitalized patient. The purpose of this project was to address the question: Will an interactive education program on a standardized handoff tool increase nursing staffs’ knowledge and self-confidence regarding its use? The project involved educating 20 inpatient nurses and care staff about the structure of the SIGNOUT? handoff tool using a PowerPoint presentation with a follow-up practice simulation. Handoff sheets and visuals were distributed to aid in the learning process. Pre- and post-education surveys …

Epidemiology And Screening Of Traumatic Vertebral Artery Injuries At A Large Scandinavian Level 1 Trauma Center, Paulina Cewe, Victor E. Staartjes, Victor Gabriel El-Hajj, Ihab Ahmad Al-Rikabi, Basel Musmar, Joana M. Roy, Dennis Troung, Mats Beckman, Marcus Ohlsson, Pascal Jabbour, Adrian Elmi-Terander, Erik Edström

Jefferson Hospital Staff Papers and Presentations

OBJECTIVE: Traumatic vertebral artery injuries (tVAIs) are uncommon but potentially devastating if missed. While computed tomography angiography (CTA) is routinely used for diagnosis, data on the number needed to image (NNI) remain limited. We hence analyzed tVAI epidemiology and imaging practices at a major Scandinavian level 1 trauma center.

METHODS: A retrospective study (2013-2020) was performed based on a single-center trauma registry. Patients were grouped based on CTA imaging protocol used; selective screening (2013-2017) and universal screening (2018-2020). Imaging protocols, treatment strategies, and outcomes were analyzed.

RESULTS: Among 2,843 patients admitted with level 1 trauma and receiving CTA imaging, 62 …

Insights Into The Role Of Microbial Infection In Recurrent Aphthous Stomatitis, Alaa W. Izzat, Batool Hassan Al-Ghurabi, Lina Sami Adham

Al-Esraa University College Journal for Medical Sciences

Ulcers that form in the oral mucosa are a hallmark of recurrent aphthous stomatitis (RAS), a chronic inflammatory disease. Up to 25% of the population may get aphthous ulcers, and recurrence rates within three months can reach 50%. Among women, it is more prevalent. Although the precise cause of RAS is not yet known, studies have shown that infections caused by microbes may be a major factor in the development of the disease. Infections caused by microorganisms have a complicated and multifaceted function in RAS, influencing the human immune system, the oral microbiota, and environmental variables. The purpose of this …

Anemia And Its Public Health Implications In Population Health, Sahar Abdul Wahab Alshaban, Raghda Shams Akram, Alaa Al-Noori, Noor Thair Tahir

Al-Esraa University College Journal for Medical Sciences

One to three percent of people worldwide suffer from anemia, a condition that impairs brain development, increases illness and mortality, and lowers labor productivity. Developing successful interventions to address specific causes of anemia and evaluating anemia management programs require an understanding of the numerous and diverse causes of anemia. The description and categorization of anemia, the physiological processes by which anemia arises, the importance of inherited hemoglobin abnormalities in specific populations, and a number of circumstances that contribute to the development of anemia are all covered. The conclusion of this review is as follows. Anemia is a significant global health …

Flowable Resin-Based Composites: From Fundamental Science To Modern Restorative Techniques, Farah Badri Mahdi, Hiba Ammar Yahya, Kawther Ali Adnan

Al-Esraa University College Journal for Medical Sciences

The function regarding flowable resin-based composites in restorative dentistry has considerably changed as they have been first introduced as low-viscosity alternatives in late 1990s. Because of the degraded mechanical properties and lower filler content, they were first just suitable for low-stress applications, like cavity liners. However, further advancements in the material science have produced highly-filled, next-generation flowables. The traditional trade-off between durability and fluidity is being challenged by materials’ improved properties, which include higher flexural strength and wear resistance. Furthermore, the development regarding bulk-fill flowables, which use advanced photoinitiators as well as polymerization modulators for the purpose of enabling uniform …

Intouch Week Of December 22, 2025, New York Medical College

InTouch

• Marking the Moments of 2025
• NYMC and Hudson Regional Health Form Academic Affiliation
• Simultaneous Heart-Kidney Transplant Brings Higher Risk
• A Closer Look at Medical Careers
• The Latest Issue of TCDM Apex is Available
• Faculty Spotlight: From Response to Real Impact

Cv: Ann Guernon (Speech-Language Pathology), Ann Guernon

Rehabilitation and Health Sciences Department Faculty Curricula Vitae

No abstract provided.

Lice Lowdown: What Every Parent Needs To Know, Michael Smith, Chelsea Wolfe

Parent-ish Podcast

Think lice are just a schoolyard nightmare? Think again. In this episode, we sit down with Chelsea Wolfe, MD, FAAP, to bust myths, share real talk, and give parents the confidence to handle those pesky critters without panic. From spotting the first signs to knowing what actually works (and what’s just old-school folklore), Dr. Wolfe breaks it all down in a way that’s honest, nonjudgmental, and—dare we say—fun-ish. Plus, you’ll get practical hacks for prevention and tips for talking to your kids without the shame spiral. Tune in and take the itch out of the equation.

Click here to stream …

Systems Level Analysis Of Gene, Pathway And Phytochemical Associations With Psoriasis, Sonalika Ray, Ojasvi Dutta, Neoklis Apostolopoulos, Konstantin G. Kousoulas, Jean Christopher Chamcheu, Rishemjit Kaur

Faculty Publications

Psoriasis is an inflammatory skin disorder driven by abnormal immune activation that promotes excessive proliferation and accelerated turnover of epidermal keratinocytes. IL-17 and TNF pathways are well known in psoriasis, but the other mechanisms that keep the disease active and link it to systemic comorbidities are not yet fully understood. A combined transcriptomic and systems biology framework was applied to map regulatory circuits in psoriatic lesions and to identify phytochemical candidates capable of multi-target modulation for topical intervention. Differential gene expressions between lesional and healthy skin was analyzed, followed by pathway enrichment, upstream regulator inference, protein-protein interaction network, and chemical-gene …

Cv: Ann Guernon (Speech-Language Pathology), Ann Guernon

Rehabilitation Sciences Department Curricula Vitae

No abstract provided.

Video Conversation Aids To Assist In Goals-Of-Care Discussions With Older Adults In A Medical Setting: A Systematic Review, Ashna S Karpe, Mokunfayo O Fajemisin, Stephanie Martinez Ugarte, Lara Ouellette, Martin L Blakely, Gina H Khraish, Shreyans V Sanghvi, Min J Kwak, Jessica L Lee, Lillian S Kao, Thaddeus J Puzio

Library Staff Publications

Background

Methods

Charters In Patient-Engaged Research: A Scoping Review Of Current Evidence, Jenny Martínez, Catherine V. Piersol, Richard W. Hass, Felicia Chew, Amy Cunningham, Sharon L. Larson

College of Population Health Faculty Papers

AIMS: Research study charters facilitate shared governance and power sharing with research partners when developed collaboratively and early on in a study. Study charters are negotiated and developed on a study-by-study basis, offering insight into study-specific dynamics between research partners and investigators, as well as the factors that each identify as important for their collaboration. This review aimed to map and synthesize existing evidence on the development, structure, and implementation of research study charters used in patient-engaged research.

METHODS: We searched peer-reviewed literature published worldwide in English between January 2019 and January 2025.

RESULTS: Our final sample consisted of 17 …

The Efficacy Of Traditional Versus Herbal Extracts Chelating Agents On Dentin Micro-Hardness, Sara Murtadha Abdul Hussein, Raghad A. Al-Hashimi

Al-Esraa University College Journal for Medical Sciences

Aim: To evaluate and compare the effectiveness of different chelating agents including EDTA, citric acid, green tea extract (Camellia sinensis, and chitosan on dentin micro-hardness.Materials and Methods: Fifty palatal roots of maxillary first molars were instrumented using ProTaper Next system and randomly divided into five groups (n = 10) according to the final irrigation protocol: Group A (NaOCl +distilled water - Negative control), Group B (17% EDTA-Positive control), Group C (10% citric acid), Group D (green tea extract), and Group E (0.2% chitosan nanoparticles). Dentin micro-hardness was measured using Vickers hardness tester. Data were analyzed using one-way ANOVA and …

Sport And Athletes Under The Shadow Of Covid-19 Pandemic, Abdul Razzaq Jabr Al Majidi, Rebah N. Algafari, Rehab S. Ramadhan, Rafia S. Fathi

Al-Esraa University College Journal for Medical Sciences

The end of 2019 witnessed the announcement of worldwide pandemic Covid-19 around the world that influenced every part of human life. Sports and athletes were one of these parts affected by the pandemic since many competitions and tournaments were canceled or postponed and put athletes under spotlight as an important category susceptible to infection or as they been admired and loved by the population may help in spreading infection. Following reports dealing with athletes, exercise, immunity, and severity of infection, the following points were concluded: first, moderate practicing boosts immune system and make the human less affected by Covid-19 infection …

Gamma-Ray Knife And Application Features In Medicine, Yaqoob. M. Baqer, Ayad A. Al-Taweel

Al-Esraa University College Journal for Medical Sciences

Gamma Knife radiosurgery (GKR) is a sophisticated procedure that delivers a concentrated dose of ionizing radiation to a pre-identified therapeutic target. A non-invasive radiation therapy intended to address numerous disorders impacting the brain and upper spine. The inaugural GKR facility was established by Leksell in 1951, during an era when intracranial surgical interventions resulted in significant morbidity and mortality. Initially intended for the management of functional problems, it was first employed to treat a patient with a craniopharyngioma and another with a pituitary adenoma. Initially, gamma radiation from radioactive cobalt sources was used instead of proton beams and linear accelerators. …

Comprehensive Review Of Facial Asymmetry: Etiology, Diagnosis, And Management Strategies, Hiba Ammar Yahya, Sara M. Al-Mashhadany

Al-Esraa University College Journal for Medical Sciences

A certain degree of facial asymmetry is not only a normal biological variation but can also contribute positively to perceived beauty. However, delineating the precise boundary between ‘normal’ asymmetry and ‘abnormal’ asymmetry, the latter necessitating clinical intervention, remains a complex and subjective endeavor. Minor facial asymmetry is commonly observed even in individuals with aesthetically attractive faces, typically remaining indiscernible and thus not requiring any treatment. The determination of when ‘normal’ asymmetry transitions into ‘abnormal’ is frequently influenced by clinician’s aesthetic judgment and, critically, the patient’s perception of imbalance. The perceived abnormality of facial asymmetry is, therefore, highly dependent on individual …

Genetic Basis Of Diabetic Retinopathy: Uncovering Molecular Links And Risk Factors—A Review Article, Ammar Kadhim Alzubaidi

Al-Esraa University College Journal for Medical Sciences

Genetics play a major role in diabetic retinopathy DR, which is a leading cause of blindness worldwide. Although the factors such as how long a person has had diabetes and high blood sugar are important, the wide variation and progression of DR indicates to a clear genetic influence. Early studies focusing on a few candidate genes (such as VEGF) produced conflicting and population-dependent results. This confirmed the multifactorial nature of the disease and the limitations of small-scale studies. Conversely, genome wide association studies (GWAS) have provided more consistent findings in detection a new genes related to DR. For example, rs2239785 …

Relationship Between Hashimoto Thyroiditis And Some Immunogenic Markers, Amani Mahmood Tuama, Aliyaa Taresh Obaid

Al-Esraa University College Journal for Medical Sciences

Hashimoto thyroiditis (HT) is a common autoimmune disorder, affecting women 7–10 times more often than men, that develops because of genetic susceptibility, X chromosome inactivation patterns modulated by environmental factors as well as micro biome composition, and leads to an imbalance in self-tolerance mechanisms. The consequential thyroid infiltration by lymphocytes, potentiated by antibody-mediated autoimmune response through the antibodies against thyroid peroxidase (TPO Abs), leads to a destruction of thyrocytes. The presence of TPO Abs is associated with a 2 to 4-fold increase in the risk of recurrent miscarriages and preterm birth in pregnant women. Aim: The aim of the study …

Wettability Assessment Of Room-Temperature Soft Liners Incorporated With Strontium Titanate Nanoparticles, Zakaria Azzam Alabed, Aseel Mohammed Al-Khafaji

Al-Esraa University College Journal for Medical Sciences

Background: Soft denture liners are widely used in prosthodontics for their ability to cushion masticatory forces and enhance comfort in patients with compromised oral mucosa. However, conventional liners often exhibit limitations such as poor adhesion to the denture base, microbial colonization, and inadequate mechanical stability. Materials and Methods: Strontium titanate (SrTiO₃) nanoparticles were incorporated into a self-cured soft denture liner. Three equal groups of fifteen specimens were created, each of which contained 0%, 1%, and 1.5% SrTiO₃ by weight. All procedures were conducted under simulated intraoral temperature, following manufacturer guidelines. Results: The analysis revealed statistically significant differences …

Gpbb And Tg/Hdl Ratio As Emerging Indicators In Iraqi Patients Diagnosed With Acute Coronary Syndrome, Alzahraa Ahmed Ammash, Walaa Ismael Jassim, Mohammed Mezher Hussien

Al-Esraa University College Journal for Medical Sciences

Background: ACS is one of the most critical health challenge worldwide. It consists of several conditions resulting from a sudden reduction in blood flow to the heart muscle. The early diagnosis is essential to improve the diagnostic accuracy and risk stratification. This relies on finding early, sensitive and specific biomarkers. Among these biomarkers are GPBB (glycogen phosphorylase isoenzyme BB), also referred to as the brain-type isoform (PYGB), which is primarily expressed in the brain and heart tissues and the triglyceride-to-HDL cholesterol ratio (TG/HDL). GPBB has recently gained interest as a potential early marker for myocardial ischemia with high novelty, whereas …

The Effect Of VItex Agnus-Castus L. Medium On In Vitro Oocyte Maturation Rate, Nabaa Al-Nawab

Al-Esraa University College Journal for Medical Sciences

In vitro maturation (IVM) of oocytes offers a possible alternative to traditional in vitro fertilization (IVF) for individuals susceptible to ovarian hyperstimulation syndrome (OHSS). The use of plant-derived bioactive composites as supplements in culture media has attracted attention for their potential to enhance oocyte developmental competence in the absence of synthetic hormones. This investigation aims to examine the effect of Vitex agnus-castus L. (VAC) aqueous extract on the in vitro maturation rate of murine oocytes. A total of 16 mature female mice were divided into two groups, 8 animals in each group. Immature oocytes were collected and cultivated for …

Detection Of Uropathogenic Bacteria In The Samples Of Iraqi Male Patients, Marwa M. Al-Attar

Al-Esraa University College Journal for Medical Sciences

Prostate disease is found in elderly persons, the prostate is a male reproduction organ. It is approximately the size of a plum that may be found near the bladder’s base. It is the primary cause of the three commonest diseases: prostatitis, benign prostatic hyperplasia (BPH), and prostate cancer (PC). This study designed to identify the uropathogenic bacteria that caused prostate disorders in Iraqi male samples. A current study included 180 subjects from the Iraqi population, 135 patients were divided into three groups (prostate cancer, benign prostate hyperplasia and prostatitis), according to signs, symptoms and diagnosis by the physician each group …

Prevalence Of Aminoglycoside Resistance Genes Among Esβl Producer P. Aeruginosa In Burn Cases, Yasser Rabee Ibraheem, Majida Malik Alshammari

Al-Esraa University College Journal for Medical Sciences

Pseudomonas aeruginosa recurrently develops resistant towards aminoglycosides by gaining of aminoglycoside modifying enzyme (AME) genes. The study aimed to assess the antibiotic susceptibility profile of P. aeruginosa isolated from burn infections in hospitals in Baquba, AL Najaf and Karbala. Detection of genes that mediate the production of AMEs. 175 Burn swab (110 males and 65 females) were collected then cultured on MacConkey‘s and Blood agar for primary culture, and Cetrimide agar was used to isolate and purify the bacteria and incubated aerobically at 37°C for 24 hours. Then, Vitek 2 system to validate the results. Results revealed that 70 (40%) …

Antimicrobial Resistance Trends And Sccmec Typing Among Mrsa-Infected Diabetic Foot Cases In The Al-Najaf Community, Zahraa Hashim Abd Zaid Al-Sharoofi, Majida Malik Alshammari, Mohammed Abdzaid Akool

Al-Esraa University College Journal for Medical Sciences

Methicillin-resistant Staphylococcus aureus (MRSA) is a major cause of healthcare-associated infections worldwide, often linked to multidrug resistance and limited treatment options. This cross-sectional study aimed to investigate the molecular characteristics and antimicrobial resistance profiles of MRSA isolates recovered from diabetic foot ulcers in Al-Najaf Governorate, Iraq. A total of 76 S. aureus isolates were collected from patients attending three major hospitals. Identification was conducted using conventional microbiological methods, and methicillin resistance was confirmed phenotypically via cefoxitin disc diffusion and genotypically through PCR amplification of the mecA gene. SCCmec typing was performed using multiplex PCR. The findings revealed that 92.1% of …

Regulation Of Insm1 Gene Expression And Neuroendocrine Differentiation In High-Risk Neuroblastoma, Chiachen Chen, Siyuan Cheng, Xiuping Yu, Yisheng Lee, Michael S. Lan

School of Graduate Studies Faculty Publications

Neuroblastoma (NB), a pediatric cancer of sympatho-adrenal (SA) lineage, is marked by disrupted differentiation and cellular heterogeneity. INSM1, a zinc-finger transcription factor, is highly expressed in NB and developing SA tissues, where it regulates neuroendocrine differentiation, especially in chromaffin cells. We investigated INSM1's role in maintaining an undifferentiated, progenitor-like state in NB and its regulation via metabolic and epigenetic mechanisms. Transcriptomic profiling, promoter assays, and metabolic flux analysis revealed that INSM1 expression correlates with methionine cycle activity, particularly the S-adenosylmethionine (SAM)/S-adenosylhomocysteine (SAH) ratio. Disruption of SAM/SAH balance altered INSM1 promoter activity and histone methylation, implicating epigenetic control in NB cell …

Clair3-Rna: A Deep Learning-Based Small Variant Caller For Long-Read Rna Sequencing Data, Zhenxian Zheng, Xian Yu, Lei Chen, Yan-Lam Lee, Cheng Xin, Angel On Ki Wong, Miten Jain, Rupesh K Kesharwani, Fritz J Sedlazeck, Ruibang Luo

Faculty, Staff and Students Publications

Variant calling with long-read RNA sequencing (lrRNA-seq) helps to analyze full-length isoforms and gene expression but is complicated by high error rates, transcript diversity, RNA editing events, etc. Here, we propose Clair3-RNA, the first deep learning-based variant caller tailored for lrRNA-seq data. Building upon Clair series' pipelines, Clair3-RNA enhances lrRNA-seq variant calling using optimized techniques, such as uneven coverage normalization, refined training data, editing site discovery, and haplotype phasing to enhance performance. Clair3-RNA supports various platforms, including PacBio, ONT complementary DNA sequencing (cDNA), and ONT direct RNA sequencing (dRNA). Clair3-RNA achieved a ~ 91% SNP F1-score on the ONT platform …

Discovery Of Small Molecules And A Druggable Groove That Regulate Dna Binding And Release Of The Ap-1 Transcription Factor Δfosb, Sean Mcneme, Yun Young Yim, Ashwani Kumar, Yi Li, Brandon Hughes, Corey Peyton St Romain, Galina Aglyamova, Jianping Chen, Nghi D Nguyen, Shanghua Fan, Gabriel S Stephens, Wen-Ning Zhao, Samantha Kruzshak, Molly Estill, Corrine Brener, Solange Tofani, Anil Kumar, Earnest P Chen, Nadeen Takatka, Alfred J Robison, Haiying Chen, Reid T Powell, Stephen J Haggarty, Clifford Stephan, Eric J Nestler, Jeannie Chin, Mischa Machius, Jia Zhou, Gabby Rudenko

Faculty, Staff and Students Publications

ΔFOSB, a member of the AP-1 family of transcription factors, mediates long-term neuroadaptations underlying drug addiction, seizure-related cognitive decline, dyskinesias, and several other chronic conditions. AP-1 transcription factors are notoriously difficult to modulate pharmacologically due to the absence of well-defined binding pockets. Here, we identify a novel site on ΔFOSB, located outside the DNA-binding cleft, that accommodates small molecules. We show that sulfonic acid-containing compounds bind to this site via an induced-fit mechanism, reorienting side chains critical for DNA binding, and that they may hinder the ΔFOSB bZIP α-helix from binding to the major groove of DNA. In vivo, direct …

Titin-Related Familial Dilated Cardiomyopathy: Factors Associated With Disease Onset, Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Andrei Smolnikov, Katherine E Abihider, Michael J Ackerman, Flavie Ader, Mohammed M Akhtar, Ahmad S Amin, Euan A Ashley, John J Atherton, Rachel Austin, Annette F Baas, Richard D Bagnall, Samantha Barratt Ross, Jean-Louis Blouin, Emily E Brown, Henning Bundgaard, Douglas Cannie, Przemyslaw Chmielewski, Gemma Correnti, Maria Generosa Crespo-Leiro, Matteo Dal Ferro, Lisa M Dellefave-Castillo, Fernando Dominguez, Dennis Dooijes, Anne M Dybro, Youssef Ed Demri, Mohamed El Hachmi, Luis Escobar-Lopez, Sarah Jajesnica Foye, Maria Franaszczyk, Marta Gigli, Esther Gonzalez Lopez, Adeline Goudal, Sharon Graw, Michel Guipponi, Eric Haan, Jan Haas, Daniel J Hammersley, Frederikke G Hansen, Christopher S Hayward, Thomas Morris Hey, Stephane Heymans, Carolyn Y Ho, Arjan C Houweling, Jodie Ingles, Angela Ingrey, Andrew Jabbour, Paul A James, Joeri A Jansweijer, Jan D H Jongbloed, Anne M Keogh, Jose M Larrañaga-Moreira, Ronald H Lekanne Deprez, Ivan Macciocca, Peter S Macdonald, Nicolas Mansencal, Julia Mansour, Cristina Martinez-Veira, Barbara Mcdonough, Julie Mcgaughran, Kristen Medo, Marco Merlo, Ewa Michalak, Lorenzo Monserrat, Helen Mountain, Steven A Muller, Anne M Murphy, Brittney Murray, Emily C Oates, Elizabeth Ormondroyd, Nicholas Pachter, Alessia Paldino, Aurélien Palmyre, Naveen L Pereira, Kermshlise C Picard, Nicola Poplawski, Sanjay Prasad, Julie Proukhnitzky, Jean-Francois Pruny, Patricia Reant, Pascale Richard, Anne Ronan, Farbod Sedaghat-Hamedani, Christopher Semsarian, Garrett Storm, Sophie Stroeks, Petros Syrris, Matthew R G Taylor, Kate Thomson, Tina Thompson, J Peter Van Tintelen, Christoffer Rasmus Vissing, Kathryn E Waddell-Smith, Mathew Wallis, Dominica Zentner, Clare Arnott, Ali J Marian, Jaewon Oh, Siv Fokstuen, Cynthia A James, Roberto Barriales-Villa, Benjamin Meder, Karim Wahbi, John R Giudicessi, Victoria N Parikh, James S Ware, Nicolas Piriou, Caroline Rooryck, Neal K Lakdawala, Luisa Mestroni, Gianfranco Sinagra, Perry M Elliott, Hugh Watkins, Elizabeth M Mcnally, Philippe Charron, Karin Y Van Spaendonck-Zwarts, Pablo Garcia-Pavia, Maria Luisa Peña-Peña, Jens Mogensen, Alex Hoerby Christensen, Zofia T Bilińska, Torsten B Rasmussen, Jonathan G Seidman, Christine E Seidman, Anneline S J M Te Riele, Job A J Verdonschot, Yigal M Pinto, Imke Christiaans, Diane Fatkin

The Brown Foundation: Institute of Molecular Medicine

Background and aims: Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv.

Methods: An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM.

Results: A total of 3158 subjects in 1043 …