Medicine and Health Sciences Commons^™

The Use Of Free Weight Squats In Sports: A Narrative Review—Terminology And Biomechanics, Michael H. Stone, W. Guy Hornsby, Satoshi Mizuguchi, Kimitake Sato, Daniel Gahreman, Marco Duca, Kevin M. Carroll, Michael W. Ramsey, Margaret E. Stone, Kyle C. Pierce, G. Gregory Haff

Research outputs 2022 to 2026

There is substantial evidence indicating that increased maximum strength as a result of training with squats, particularly full and parallel squats, is associated with superior athletic capabilities, such as sprinting, jumping and agility. Although full and parallel squats have been strongly associated with sport performance, there is also some evidence that the use of partial squats may provide angle specific adaptations that are likely advantageous for specific sporting activities. Partial squats may be particularly advantageous when trained in conjunction with full or parallel squats, as this practice results in a greater training effect. There is a paucity of evidence that …

Risk Of 30-Day All-Cause Readmission In Interstitial Lung Disease Patients After Covid-19: National-Level Data, Ali Vaeli Zadeh, Roshan Dinparastisaleh, Atefeh Vaezi, Debabrata Bandyopadhyay, Israel Rubinstein, Hassan Z Baig, Rafael Calderon-Candelario, Abdolrazagh Hashemi Shahraki, Takeshi Kawasaki, Jesper M Magnusson, Lars-Olof Larsson, Amir Sharafkhaneh, Jose D Herazo-Maya, Augustine S Lee, Mehdi Mirsaeidi

Faculty, Staff and Students Publications

Rationale

Hospital readmission within 30 days poses challenges for healthcare providers, policymakers, and patients because of its impact on care quality, costs, and outcomes. Patients with interstitial lung disease (ILD) are particularly affected by readmission, which is associated with increased morbidity and mortality and reduced quality of life. Because small sample sizes have hindered previous studies, this study seeks to address this gap in knowledge by examining a large-scale dataset.

Objective: To determine the rate and probability of 30-day all-cause readmission and secondary outcomes in patients with coronavirus disease (COVID-19) or ILD admitted to the hospital.

Methods

This study is …

Environmental Justice: A Missing Core Tenet Of Global Health, Redeat Workneh, Merhawit Abadi, Krystle Perez, Sharla Rent, Elliott Mark Weiss, Stephanie Kukora, Olivia Brandon, Gal Barbut, Sahar Rahiem, Shaphil Wallie, Joseph Mhango, Benjamin C Shayo, Friday Saidi, Gesit Metaferia, Mahlet Abayneh, Gregory C Valentine

Faculty, Staff and Students Publications

No abstract provided.

Dhea: A Neglected Biological Signal That May Affect Fetal And Child Development, Natasha A. Bailey, Elysia Poggi Davis, Curt A. Sandman, Laura M. Glynn

Psychology Faculty Articles and Research

The stress-sensitive maternal hypothalamic–pituitary–adrenal (HPA) axis through the end-product cortisol, represents a primary pathway through which maternal experience shapes fetal development with long-term consequences for child neurodevelopment. However, there is another HPA axis end-product that has been widely ignored in the study of human pregnancy. The synthesis and release of dehydroepiandosterone (DHEA) is similar to cortisol, so it is a plausible, but neglected, biological signal that may influence fetal neurodevelopment. DHEA also may interact with cortisol to determine developmental outcomes. Surprisingly, there is virtually nothing known about human fetal exposure to prenatal maternal DHEA and offspring neurodevelopment. The current study …

Hypoimmune Induced Pluripotent Stem Cells Survive Long Term In Fully Immunocompetent, Allogeneic Rhesus Macaques, Xiaomeng Hu, Nathaniel J Hogrebe, Et Al.

2020-Current year OA Pubs

Genetic engineering of allogeneic cell therapeutics that fully prevents rejection by a recipient's immune system would abolish the requirement for immunosuppressive drugs or encapsulation and support large-scale manufacturing of off-the-shelf cell products. Previously, we generated mouse and human hypoimmune pluripotent (HIP) stem cells by depleting HLA class I and II molecules and overexpressing CD47 (B2M

Programs And Processes For Advancing Pediatric Acute Kidney Support Therapy In Hospitalized And Critically Ill Children: A Report From The 26th Acute Disease Quality Initiative (Adqi) Consensus Conference, Tara M Neumayr, Benan Bayrakci, Rahul Chanchlani, Akash Deep, Jolyn Morgan, Ayse Akcan Arikan, Rajit K Basu, Stuart L Goldstein, David J Askenazi, Adqi 26 Workgroup

2020-Current year OA Pubs

Pediatric acute kidney support therapy (paKST) programs aim to reliably provide safe, effective, and timely extracorporeal supportive care for acutely and critically ill pediatric patients with acute kidney injury (AKI), fluid and electrolyte derangements, and/or toxin accumulation with a goal of improving both hospital-based and lifelong outcomes. Little is known about optimal ways to configure paKST teams and programs, pediatric-specific aspects of delivering high-quality paKST, strategies for transitioning from acute continuous modes of paKST to facilitate rehabilitation, or providing effective short- and long-term follow-up. As part of the 26th Acute Disease Quality Initiative Conference, the first to focus on a …

Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage

Faculty, Staff and Students Publications

Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. …

The Hidden Expense Of Stethoscope Hygiene Versus The Real Costs Of Failure, William Frank Peacock

Faculty, Staff and Students Publications

No abstract provided.

County-Level Neonatal Opioid Withdrawal Syndrome Rates And Real-World Access To Buprenorphine During Pregnancy: An Audit ("Secret Shopper") Study In Missouri, Bronwyn S Bedrick, Caroline Cary, Carly O'Donnell, Christine Marx, Hayley Friedman, Ebony B Carter, Nandini Raghuraman, Molly J Stout, Benson S Ku, Kevin Y Xu, Jeannie C Kelly

2020-Current year OA Pubs

BACKGROUND: Amid rising rates of neonatal opioid withdrawal syndrome (NOWS) worldwide and in many regions of the USA, we conducted an audit study ("secret shopper study") to evaluate the influence of county-level buprenorphine capacity and rurality on county-level NOWS rates.

METHODS: In 2019, up to three phone calls were made to buprenorphine prescribers in the state of Missouri (USA). County-level buprenorphine capacity was defined as the number of clinicians (across all specialties) accepting pregnant people divided by the number of births. Multivariable negative binomial regression models estimated associations between buprenorphine capacity, rurality, and county-level NOWS rates, controlling for potential confounders …

Associations Between Covid-19 And Putative Markers Of Neuroinflammation: A Diffusion Basis Spectrum Imaging Study, Wei Zhang, Aaron J Gorelik, Qing Wang, Sara A Norton, Tamara Hershey, Arpana Agrawal, Janine D Bijsterbosch, Ryan Bogdan

2020-Current year OA Pubs

COVID-19 remains a significant international public health concern. Yet, the mechanisms through which symptomatology emerges remain poorly understood. While SARS-CoV-2 infection may induce prolonged inflammation within the central nervous system, the evidence primarily stems from limited small-scale case investigations. To address this gap, our study capitalized on longitudinal UK Biobank neuroimaging data acquired prior to and following COVID-19 testing (N = 416 including n = 224 COVID-19 cases; M

Rosiglitazone Improves Insulin Resistance But Does Not Improve Exercise Capacity In Individuals With Impaired Glucose Tolerance: A Randomized Clinical Study, Layla A Abushamat, Irene E Schauer, Cecilia C Low Wang, Stacey Mitchell, Leah Herlache, Mark Bridenstine, Roy Durbin, Janet K Snell-Bergeon, Judith G Regensteiner, Jane Eb Reusch

Faculty, Staff and Students Publications

Dysmetabolic states, such as type 2 diabetes (T2D), characterized by insulin resistance (IR), are associated with fatty liver, increased cardiovascular disease (CVD) risk, and decreased functional exercise capacity (FEC). Rosiglitazone (RO) improves exercise capacity and IR in T2D. However, the effects of RO on FEC and other markers of CVD risk in prediabetes are unknown. We hypothesized that insulin sensitization with RO would improve exercise capacity and markers of CVD risk in participants with impaired glucose tolerance (IGT). Exercise performance (peak oxygen consumption and oxygen uptake kinetics), IR (homeostasis model assessment of IR and quantitative insulin sensitivity check index), and …

Increased Experiences Of Loneliness During The Covid-19 Pandemic, Emotional Distress And Changes In Perceived Physical And Mental Health: A Structural Equation Model, Joann Jabbari, Stephen Roll, Amy Mcqueen, Nancy Ridenour

2020-Current year OA Pubs

AIM: To explore how experiences of increased loneliness during the COVID-19 pandemic affected emotional distress and changes in perceptions of physical and mental health.

DESIGN: Cross-sectional study.

METHODS: Data from the Socio-Economic Impacts of Covid-19 Survey, a national survey administered to 5033 adults in August and September 2020 in the United States, was utilized in this study. Structural equation modelling was used to analyse the associations between increased experiences of loneliness during the pandemic, emotional distress and changes in perceptions of physical and mental health.

RESULTS: Among the 47% of participants who reported increased experiences of loneliness during the pandemic, …

Study Characteristics And Impact Of The "Best Papers" Presented At Assh Annual Meetings Over The Past Decade, Justin A Cline, Joshua T Rogers, Guillermo Marquez, Lindley Wall, Charles A Goldfarb

2020-Current year OA Pubs

PURPOSE: Each year, the American Society for Surgery of the Hand (ASSH) selects several abstracts for podium presentations during a "Best Papers" session. We examined these papers to better understand their characteristics and impact on the field of hand surgery.

METHODS: "Best Papers" from the 2010 to 2020 ASSH Annual Meetings were reviewed. Online databases were searched to find matching publications. Descriptive data were collected from the publications. The Hirsch index value for each corresponding author and the number of citations for each publication were recorded. Descriptive statistics were used to analyze the data.

RESULTS: Fifty-nine "Best Papers" were awarded …

Programs And Processes For Advancing Pediatric Acute Kidney Support Therapy In Hospitalized And Critically Ill Children: A Report From The 26th Acute Disease Quality Initiative (Adqi) Consensus Conference, Tara M Neumayr, Benan Bayrakci, Rahul Chanchlani, Akash Deep, Jolyn Morgan, Ayse Akcan Arikan, Rajit K Basu, Stuart L Goldstein, David J Askenazi

Faculty, Staff and Students Publications

Pediatric acute kidney support therapy (paKST) programs aim to reliably provide safe, effective, and timely extracorporeal supportive care for acutely and critically ill pediatric patients with acute kidney injury (AKI), fluid and electrolyte derangements, and/or toxin accumulation with a goal of improving both hospital-based and lifelong outcomes. Little is known about optimal ways to configure paKST teams and programs, pediatric-specific aspects of delivering high-quality paKST, strategies for transitioning from acute continuous modes of paKST to facilitate rehabilitation, or providing effective short- and long-term follow-up. As part of the 26th Acute Disease Quality Initiative Conference, the first to focus on a …

Crises In Antimicrobial Stewardship: Misuse Of Clarithromycin For Helicobacter Pylori Therapy, David Y Graham

Faculty, Staff and Students Publications

Helicobacter pylori is a class I carcinogen that infects more than 100 million individuals in the United States. Antimicrobial therapy for H. pylori has typically been prescribed empirically rather than based on susceptibility testing. Until recently, therapeutic recommendations have generally ignored the principles of antibiotic stewardship. A combination of a proton pump inhibitor (PPI), amoxicillin, and clarithromycin (triple therapy) remains popular despite increasing clarithromycin resistance and poor cure rates. Concomitant therapy (a PPI, amoxicillin, clarithromycin, and metronidazole) is recommended and widely used despite all patients receiving at least one unneeded antibiotic. In 2020, the Food and Drug Administration approved vonoprazan, …

Tuberculosis In People Of Ukrainian Origin In The European Union And The European Economic Area, 2019 To 2022, Krista Stoycheva, Veronica Cristea, Csaba Ködmön, Senia Rosales-Klintz, Dominik Zenner, Anca Vasiliu, Marieke Van Der Werf, Christoph Lange

Faculty, Staff and Students Publications

Approximately five million Ukrainians were displaced to the EU/EEA following the Russian invasion of Ukraine. While tuberculosis (TB) notification rates per 100,000 Ukrainians in the EU/EEA remained stable, the number of notified TB cases in Ukrainians increased almost fourfold (mean 2019-2021: 201; 2022: 780). In 2022, 71% cases were notified in three countries, and almost 20% of drug-resistant TB cases were of Ukrainian origin. Targeted healthcare services for Ukrainians are vital for early diagnosis and treatment, and preventing transmission.

The Internist's Post V.1 N.1, The University Of Texas Rio Grande Valley. School Of Medicine, Diana Othon Martinez, Roque Mifuji Lira, Jian Garcia Cruz, Edgar Dorsey Trevino, Eunbee Cho

School of Medicine Publications

No abstract provided.

Echocardiographic Image Collection And Evaluation In Infants With Chd: Lessons Learned From The Imaging Core Lab For The Residual Lesion Score Study, Jami C Levine, Steven Colan, Felicia Trachtenberg, Edward Marcus, Matthew Ferguson, Anitha Parthiban, Carolyn Taylor, Andreea Dragulescu, Benjamin Goot, Ronald V Lacro, Carol Mcfarland, Shanthi Narasimhan, Matthew O'Connor, Marcus Schamberger, Shubhika Srivistava, Michael Taylor, Meena Nathan

Faculty, Staff and Students Publications

Many factors affect patient outcome after congenital heart surgery, including the complexity of the heart disease, pre-operative status, patient specific factors (prematurity, nutritional status and/or presence of comorbid conditions or genetic syndromes), and post-operative residual lesions. The Residual Lesion Score is a novel tool for assessing whether specific residual cardiac lesions after surgery have a measurable impact on outcome. The goal is to understand which residual lesions can be tolerated and which should be addressed prior to leaving the operating room. The Residual Lesion Score study is a large multicentre prospective study designed to evaluate the association of Residual Lesion …

Current And Future Approaches To Pediatric Anxiety Disorder Treatment, André Zugman, Anderson M. Winkler, Purnima Qamar, Daniel Samuel Pine

School of Medicine Publications

This overview critically appraises the literature on the treatment of pediatric anxiety disorders. The two established treatments for these conditions comprise cognitive-behavioral therapy (CBT) and antidepressant medications. Many youths receiving these treatments fail to achieve remission, which creates a need for new treatments. After summarizing the literature on CBT and currently available medications, the authors describe research that lays a foundation for improvements in the treatment of pediatric anxiety disorders. This foundation leverages neuroscientific investigations, also described in the overview, which provide insights on mechanisms of successful treatment.

Contemplating On The End Of Integrated Care-Part Ii: Living The Questions To Foster Adaptability, Deepu George, Parinda Khatri

School of Medicine Publications

This article extends the use of the ecocycle planning framework to describe challenges ahead for the integrated care and Collaborative Family Healthcare Association (CFHA). The authors make the case that to remain agile and adaptable, there are contextual, ecological, and moral challenges that integrated care and CFHA should keep in the forefront as they navigate the future of an inequitable health care system that is morphing at a rapid pace. These influences include but are not limited to challenges of social determinants of health, artificial intelligence, generational differences in technology among older and younger populations, the moral issue of poverty, …

Case Of Nocturnal Emesis, Weight Loss, And Aspiration Pneumonia, Roman Babayev, Sharonda Taylor, Elizabeth V Franklin

Faculty, Staff and Students Publications

No abstract provided.

Complex Adhd Challenging Case: When Simple Becomes Complex: Managing Clinician Bias And Navigating Challenging Family Dynamics In A 6-Year-Old Girl With Adhd And Developmental Delays, Jennifer Cervantes, Jenna Wallace, Annie Kennelly Helms, Elizabeth A Diekroger, Jason Fogler

Faculty, Staff and Students Publications

Layla is a 6.7-year-old girl diagnosed with attention-deficit/hyperactivity disorder (ADHD)-predominantly hyperactive/impulsive type-delayed adaptive skills, enuresis, unspecified malnutrition, and feeding difficulties. She presented to developmental-behavioral pediatrics (DBP) in January 2022 due to caregiver concerns for autism spectrum disorder (ASD).Layla lives in a polyamorous family with her biological mother and father, mother's partner whom Layla refers to as her uncle, and her 2 half-siblings. There is a maternal history of special education services, schizoaffective disorder, bipolar disorder, multiple sclerosis, Wolff-Parkinson-White syndrome, and ADHD. Layla's father is a veteran diagnosed with post-traumatic stress disorder. Layla's siblings, aged 5 and 9 years, have established …

Il-33 Potentiates Histaminergic Itch, Anna M Trier, Aaron M Ver Heul, Avery Fredman, Victoria Le, Zhen Wang, Kelsey Auyeung, James Meixiong, Paola Lovato, Michael J Holtzman, Fang Wang, Xinzhong Dong, Andrew L Ji, Brian S Kim

2020-Current year OA Pubs

BACKGROUND: Itch is a common symptom that can greatly diminish quality of life. Histamine is a potent endogenous pruritogen, and while antihistamines are often the first-line treatment for itch, in conditions like chronic spontaneous urticaria (CSU), many patients remain symptomatic while receiving maximal doses. Mechanisms that drive resistance to antihistamines are poorly defined.

OBJECTIVES: Signaling of the alarmin cytokine IL-33 in sensory neurons is postulated to drive chronic itch by inducing neuronal sensitization to pruritogens. Thus, we sought to determine if IL-33 can augment histamine-induced (histaminergic) itch.

METHODS: Itch behavior was assessed in response to histamine after IL-33 or saline …

Efficacy And Safety Of Rezafungin And Caspofungin In Candidaemia And Invasive Candidiasis: Pooled Data From Two Prospective Randomised Controlled Trials, George R Thompson 3rd, Marin Kollef, Et Al.

2020-Current year OA Pubs

BACKGROUND: Rezafungin, a new US Food and Drug Administration-approved, long-acting echinocandin to treat candidaemia and invasive candidiasis, was efficacious with a similar safety profile to caspofungin in clinical trials. We conducted pooled analyses of the phase 2 STRIVE and phase 3 ReSTORE rezafungin trials.

METHODS: ReSTORE was a multicentre, double-blind, double-dummy, randomised phase 3 trial conducted at 66 tertiary care centres in 15 countries. STRIVE was a multicentre, double-blind, double-dummy, randomised phase 2 trial conducted at 44 centres in 10 countries. Adults (≥18 years) with candidaemia or invasive candidiasis were treated with once-a-week intravenous rezafungin (400 mg and 200 mg) …

Msg-15: Super-Bioavailability Itraconazole Versus Conventional Itraconazole In The Treatment Of Endemic Mycoses-A Multicenter, Open-Label, Randomized Comparative Trial, Andrej Spec, Et Al.

2020-Current year OA Pubs

BACKGROUND: Invasive fungal disease caused by dimorphic fungi is associated with significant morbidity and mortality. Super-bioavailability itraconazole (SUBA-itra) is a novel antifungal agent with pharmacokinetic advantages over currently available formulations. In this prospective comparative study, we report the outcomes of patients with endemic fungal infections (histoplasmosis, blastomycosis, coccidioidomycosis, and sporotrichosis).

METHODS: This open-label randomized trial evaluated the efficacy, safety, and pharmacokinetics SUBA-itra compared with conventional itraconazole (c-itra) treatment for endemic fungal infections. An independent data review committee determined responses on treatment days 42 and 180.

RESULTS: Eighty-eight patients were enrolled for IFD (SUBA-itra, n = 42; c-itra, n = 46) …

Does Vibrotactile Stimulation Of The Auricular Vagus Nerve Enhance Working Memory? A Behavioral And Physiological Investigation, Gansheng Tan, Josh Adams, Kara Donovan, Phillip Demarest, Jon T Willie, Peter Brunner, Jenna L Gorlewicz, Eric C Leuthardt

2020-Current year OA Pubs

BACKGROUND: Working memory is essential to a wide range of cognitive functions and activities. Transcutaneous auricular vagus nerve stimulation (taVNS) is a promising method to improve working memory performance. However, the feasibility and scalability of electrical stimulation are constrained by several limitations, such as auricular discomfort and inconsistent electrical contact.

OBJECTIVE: We aimed to develop a novel and practical method, vibrotactile taVNS, to improve working memory. Further, we investigated its effects on arousal, measured by skin conductance and pupil diameter.

METHOD: This study included 20 healthy participants. Behavioral response, skin conductance, and eye tracking data were concurrently recorded while the …

Estrogen-Induced Glial Il-1Β Mediates Extrinsic Retinal Ganglion Cell Vulnerability In Murine Nf1 Optic Glioma, Yunshuo Tang, Jit Chatterjee, Ngan Wagoner, Stephanie Bozeman, David H Gutmann

2020-Current year OA Pubs

Optic pathway gliomas (OPGs) arising in children with neurofibromatosis type 1 (NF1) can cause retinal ganglion cell (RGC) dysfunction and vision loss, which occurs more frequently in girls. While our previous studies demonstrated that estrogen was partly responsible for this sexually dimorphic visual impairment, herein we elucidate the underlying mechanism. In contrast to their male counterparts, female Nf1

Gene-Based Association Study Of Rare Variants In Children Of Diverse Ancestries Implicates Tnfrsf21 In The Development Of Allergic Asthma, Selene Clay, Katherine Rivera-Spoljaric, Et Al.

2020-Current year OA Pubs

BACKGROUND: Most genetic studies of asthma and allergy have focused on common variation in individuals primarily of European ancestry. Studying the role of rare variation in quantitative phenotypes and in asthma phenotypes in populations of diverse ancestries can provide additional, important insights into the development of these traits.

OBJECTIVE: We sought to examine the contribution of rare variants to different asthma- or allergy-associated quantitative traits in children with diverse ancestries and explore their role in asthma phenotypes.

METHODS: We examined whole-genome sequencing data from children participants in longitudinal studies of asthma (n = 1035; parent-identified as 67% Black and 25% …

Mucosal Vaccine-Induced Cross-Reactive Cd8+ T Cells Protect Against Sars-Cov-2 Xbb.1.5 Respiratory Tract Infection, Baoling Ying, Tamarand L Darling, Pritesh Desai, Chieh-Yu Liang, Igor P Dmitriev, Nadia Soudani, Traci Bricker, Elena A Kashentseva, Houda Harastani, Saravanan Raju, Meizi Liu, Aaron G Schmidt, David T Curiel, Adrianus C M Boon, Michael S Diamond

2020-Current year OA Pubs

A nasally delivered chimpanzee adenoviral-vectored severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine (ChAd-SARS-CoV-2-S) is currently used in India (iNCOVACC). Here, we update this vaccine by creating ChAd-SARS-CoV-2-BA.5-S, which encodes a prefusion-stabilized BA.5 spike protein. Whereas serum neutralizing antibody responses induced by monovalent or bivalent adenoviral vaccines were poor against the antigenically distant XBB.1.5 strain and insufficient to protect in passive transfer experiments, mucosal antibody and cross-reactive memory T cell responses were robust, and protection was evident against WA1/2020 D614G and Omicron variants BQ.1.1 and XBB.1.5 in mice and hamsters. However, depletion of memory CD8

Familial Hypercholesterolemia Variant And Cardiovascular Risk In Individuals With Elevated Cholesterol, Yiyi Zhang, Jacqueline S Dron, Brandon K Bellows, Amit V Khera, Junxiu Liu, Pallavi P Balte, Elizabeth C Oelsner, Sami Samir Amr, Matthew S Lebo, Anna Nagy, Gina M Peloso, Pradeep Natarajan, Jerome I Rotter, Cristen Willer, Eric Boerwinkle, Christie M Ballantyne, Pamela L Lutsey, Myriam Fornage, Donald M Lloyd-Jones, Lifang Hou, Bruce M Psaty, Joshua C Bis, James S Floyd, Ramachandran S Vasan, Nancy L Heard-Costa, April P Carson, Michael E Hall, Stephen S Rich, Xiuqing Guo, Dhruv S Kazi, Sarah D De Ferranti, Andrew E Moran

Faculty, Staff and Student Publications

IMPORTANCE: Familial hypercholesterolemia (FH) is a genetic disorder that often results in severely high low-density lipoprotein cholesterol (LDL-C) and high risk of premature coronary heart disease (CHD). However, the impact of FH variants on CHD risk among individuals with moderately elevated LDL-C is not well quantified.

OBJECTIVE: To assess CHD risk associated with FH variants among individuals with moderately (130-189 mg/dL) and severely (≥190 mg/dL) elevated LDL-C and to quantify excess CHD deaths attributable to FH variants in US adults.

DESIGN, SETTING, AND PARTICIPANTS: A total of 21 426 individuals without preexisting CHD from 6 US cohort studies (Atherosclerosis Risk …