Digital Commons Network^™

Understanding Alcohol Use Discourse And Stigma Patterns In Perinatal Care On Twitter, Fritz Culp, Yuqi Wu, Dezhi Wu, Yang Ren, Phyllis Raynor Phd, Aprn, Pmhnp-Bc, Peiyin Hung Ph.D, Shan Qiao Ph.D., Xiaoming Li Ph.D., Kacey Eichelberger

Publications

(1) Background: perinatal alcohol use generates a variety of health risks. Social media platforms discuss fetal alcohol spectrum disorder (FASD) and other widespread outcomes, providing personalized user-generated content about the perceptions and behaviors related to alcohol use during pregnancy. Data collected from Twitter underscores various narrative structures and sentiments in tweets that reflect large-scale discourses and foster societal stigmas; (2) Methods: We extracted alcohol-related tweets from May 2019 to October 2021 using an official Twitter search API based on a set of keywords provided by our clinical team. Our exploratory study utilized thematic content analysis and inductive qualitative coding methods …

Subchronic Oral Cylindrospermopsin Exposure Alters The Host Gut Microbiome And Is Associated With Progressive Hepatic Inflammation, Stellate Cell Activation, And Mild Fibrosis In A Preclinical Study, Punnag Saha, Macayla Upright, Dipro Bose, Subhajit Roy, Ayushi Trivedi, Madhura More, Geoff Scott Ph.D., Bryan W. Brooks, Saurabh Chatterjee

Faculty Publications

Epidemiological studies have reported a strong association between liver injury and incidences of hepatocellular carcinoma in sections of humans globally. Several preclinical studies have shown a strong link between cyanotoxin exposure and the development of nonalcoholic steatohepatitis, a precursor of hepatocellular carcinoma. Among the emerging threats from cyanotoxins, new evidence shows cylindrospermopsin release in freshwater lakes. A known hepatotoxin in higher concentrations, we examined the possible role of cylindrospermopsin in causing host gut dysbiosis and its association with liver pathology in a mouse model of toxico-pharmacokinetics and hepatic pathology. The results showed that oral exposure to cylindrospermopsin caused decreased diversity …

Association Between Dietary Inflammatory Index Score And Muscle Mass And Strength In Older Adults: A Study From National Health And Nutrition Examination Survey (Nhanes) 1999-2002, Lingzhi Chen, Jingjing Ming, Tianyi Chen, James Hébert Scd, Peng Sun, Li Zhang, Hongya Wang, Qingkuo Wu, Cancan Zhang, Nitin Shivappa Mbbs, Mph, Ph.D., Bo Ban

Faculty Publications

Purpose

Chronic low-grade systemic inflammation affects muscle protein metabolism. The dietary inflammatory index (DII®) is a tool designed to assess the inflammatory potential of the diet. The available data on the association between DII and sarcopenia are limited. We aimed to investigate the association of the DII with components of sarcopenia in individuals over 50 years of age.

Methods

This cross-sectional study used the National Health and Nutrition Examination Survey (NHANES) 1999–2002 dataset. Body composition was measured, and isokinetic strength of the knee extensors (peak force) was evaluated. Low muscle mass and strength were defined using sex-specific thresholds. Energy-adjusted DII …

Understanding Alcohol Use Discourse And Stigma Patterns In Perinatal Care On Twitter, Fritz Culp, Yuqi Wu, Dezhi Wu, Yang Ren, Phyllis Raynor, Peiyin Hung, Shan Qiao Ph.D., Xiaoming Li Ph.D., Kacey Eichelberger

Faculty Publications

(1) Background: perinatal alcohol use generates a variety of health risks. Social media platforms discuss fetal alcohol spectrum disorder (FASD) and other widespread outcomes, providing personalized user-generated content about the perceptions and behaviors related to alcohol use during pregnancy. Data collected from Twitter underscores various narrative structures and sentiments in tweets that reflect large-scale discourses and foster societal stigmas; (2) Methods: We extracted alcohol-related tweets from May 2019 to October 2021 using an official Twitter search API based on a set of keywords provided by our clinical team. Our exploratory study utilized thematic content analysis and inductive qualitative coding methods …

The Dietary Inflammatory Index Is Associated With Subclinical Mastitis In Lactating European Women, Myriam C. Afeiche, Alison Iroz, Frank Thielecke, Antoino C. De Castro, Gregory Lefebvre, Colleen F. Draper, Cecilia Martiínez-Costa, Maria Jose Costeira, Mireille Vanpee, Claude Billeaud, Jean-Charles Picaud, Daryl Lim Kah Hian, Guimei Liu, Nitin Shivappa Mbbs, Mph, Ph.D., James Hébert Scd, Tinu M. Samuel

Faculty Publications

Subclinical mastitis (SCM) is an inflammatory state of the lactating mammary gland, which is asymptomatic and may have negative consequences for child growth. The objectives of this study were to: (1) test the association between the dietary inflammatory index (DII®) and SCM and (2) assess the differences in nutrient intakes between women without SCM and those with SCM. One hundred and seventy-seven women with available data on human milk (HM) sodium potassium ratio (Na:K) and dietary intake data were included for analysis. Multivariable logistic regression was used to examine the association between nutrient intake and the DII score in relation …

Resilience Resources And Coping Strategies Of Covid-19 Female Long Haulers: A Qualitative Study, Atefeh Aghaei, Abhishek Aggarwal, Ran Zhang, Xiaoming Li Ph.D., Shan Qiao Ph.D.

Faculty Publications

Background: Female long haulers deal with persistent post-acute COVID-19 symptoms that have serious health implications. This study aimed to identify resilience resources at multiple socio-ecological levels for female long haulers and describe how resilience resources affect their responses to long COVID. Methods: Purposive sampling was adopted to recruit participants through social media from April to June 2021 followed by 15 semi-structured interviews. An inductive analytical approach was adopted to categorize themes by open and axial coding that were verified by peer review. Results: Female long haulers relied on resources at various socio-ecological levels to foster their resilience in response to …

The Formal Institutional Context Of Informal Entrepreneurship: A Cross-National, Configurational-Based Perspective, Joshua K. Ault, Andrew Spicer

Faculty Publications

While previous comparative research has identified the formal institutional conditions that differentiate countries on their degree of informal entrepreneurship, this paper examines the characteristics that shape cross-national diversity in its type. Based on a series of fuzzy-set qualitative comparative analyses (fs/QCA) of 138 country cases, we find evidence of causal heterogeneity in the configuration of institutional conditions associated with entrepreneurial outcomes that are informal and growth-oriented and those that are informal and subsistence-oriented. Given our results, we propose that the formal institutional-based conditions that differentiate between types of informal sectors are best identified by the conjoint mixture of strength and …

Determinants Of Egg Consumption By Infants And Young Children In Ethiopia, Bezawit E. Kase, Edward A. Frongillo Jr. Ph.D., Sejla Isanovic, Wendy Gonzalez, Hana Yemane Wodajo, Eric W. Djmeu

Faculty Publications

Objective:

To identify determinants of egg consumption in infants and young children aged 6–23·9 months in Ethiopia. Design and setting:

Data used were from the cross-sectional baseline survey of an egg campaign in Ethiopia implemented by the Global Alliance for Improved Nutrition. Participants:

Children aged 6–23·9 months (n 453) were sampled. Data on socio-demographic characteristics, economic resources, caregiver’s behaviour, child health and feeding practices, and egg consumption in the last 7 d were collected using interviewer-administered questionnaires. Multivariable ordinal logistic regression was used to examine the association between explanatory variables and egg consumption in the last 7 d. Results:

About …

A Five-Country Study Of Front- And Back-Of-Package Nutrition Label Awareness And Use: Patterns And Correlates From The 2018 International Food Policy Study, Jasmin Bhawra, Sharon I. Kirkpatrick, Marissa G. Hall, Lana Vanderlee, Jim Thrasher Ph.D., Ma, Ms, Alejandra Jáuregui De La Mota, David Hammond

Faculty Publications

Objective:

This study aimed to identify correlates of nutrition label awareness and use, particularly subgroup differences among consumers. Two label types were assessed: (1) nutrition facts tables (NFt) in Australia, Canada, Mexico, UK, and USA and (2) front-of-package (FOP) labels, including mandatory Guideline Daily Amounts (Mexico), voluntary Health Star Ratings (Australia) and voluntary Traffic Lights (UK). Design:

Respondents were recruited using Nielsen Consumer Insights Global Panel (n 21 586) and completed online surveys in November–December 2018. Linear regression and generalised linear mixed models examined differences in label use and awareness between countries and label type based on sociodemographic, knowledge-related and …

Process Evaluation Methods And Results From The Health In Pregnancy And Postpartum (Hipp) Randomized Controlled Trial, Sarah Wilcox Phd, Alicia A. Dahl, Alycia K. Boutté, Jihong Liu Sc.D., Kelsey Day, Gabrielle Turner-Mcgrievy Ph.D., Rd, Ellen Wingard

Faculty Publications

Background

Excessive gestational weight gain has increased over time and is resistant to intervention, especially in women living with overweight or obesity. This study described the process evaluation methods and findings from a behavioral lifestyle intervention for African American and white women living with overweight and obesity that spanned pregnancy (≤ 16 weeks gestation) through 6 months postpartum.

Methods

The Health in Pregnancy and Postpartum (HIPP) study tested a theory-based behavioral intervention (vs. standard care) to help women (N = 219; 44% African American, 29.1 ± 4.8 years) living with overweight or obesity meet weight gain guidelines in pregnancy and …

Higher Adherence To A Mediterranean Diet Is Associated With Improved Insulin Sensitivity And Selected Markers Of Inflammation In Individuals Who Are Overweight And Obese Without Diabetes, Surbhi Sood, Jack Feehan, Catherine Itsiopoulos, Kirsty Wilson, Magdalena Plebanski, David Scott, James Hébert Scd, Nitin Shivappa Mbbs, Mph, Ph.D., Aya Mousa, Elena S. George, Barbora De Courten

Faculty Publications

Insulin resistance (IR) and chronic low-grade inflammation are risk factors for chronic diseases including type 2 diabetes (T2D) and cardiovascular disease. This study aimed to investigate two dietary indices: Mediterranean Diet Score (MDS) and Dietary Inflammatory Index (DII®), and their associations with direct measures of glucose metabolism and adiposity, and biochemical measures including lipids, cytokines and adipokines in overweight/obese adults. This cross-sectional study included 65 participants (males = 63%; age 31.3 ± 8.5 years). Dietary intake via 3-day food diaries was used to measure adherence to MDS (0–45 points); higher scores indicating adherence. Energy-adjusted DII (E-DII) scores were calculated with …

A Latitudinal Signal In The Relationship Between Species Geographic Range Size And Climatic Niche Area, Tad Dallas, Andrew Kramer

Faculty Publications

Species with broader niches may have the opportunity to occupy larger geographic areas, assuming no limitations on dispersal and a relatively homogeneous environmental space. Here, we use data on a large set of mammal (n = 1225), bird (n = 1829) and tree (n = 341) species to examine the 1) relationship between geographic range size and climatic niche area, 2) influence of species traits on species departures from this relationship and 3) sensitivity of these relationships to how species range size and climatic niche area are estimated. We find positive geographic range size–climatic niche area relationships for all taxa, …

The Impact Of Meal Dietary Inflammatory Index On Exercise-Induced Changes In Airway Inflammation In Adults With Asthma, Katrina P. Mcdiarmid, Lisa G. Wood, John W. Upham, Lesley K. Macdonald-Wicks, Nitin Shivappa Mbbs, Mph, Ph.D., James R. Hébert Scd, Hayley A. Scott

Faculty Publications

Research suggests exercise may reduce eosinophilic airway inflammation in adults with asthma. The Dietary Inflammatory Index (DII®) quantifies the inflammatory potential of the diet and has been associated with asthma outcomes. This study aimed to determine whether the DII of a meal consumed either before or after exercise influences exercise-induced changes in airway inflammation. A total of 56 adults with asthma were randomised to (1) 30–45 min moderate–vigorous exercise, or (2) a control group. Participants consumed self-selected meals, two hours pre- and two hours post-intervention. Energy-adjusted DII (E-DIITM) was determined for each meal, with meals then characterised as “anti-inflammatory” or …

The Effects Of Human Behavioral Changes Due To The Covid-19 Pandemic On The Reservoir Of Lytic Escherichia Coli And Staphylococcus Aureus Bacteriophage On Humans At A South Carolina University, Korinne M. Swanson, Owen R. Smith, Paul E. Richardson

Journal of the South Carolina Academy of Science

Bacteriophages are viruses, whose unique ability to infect and lyse bacterial cells may provide valuable insight for evading the repercussions of a post-antibiotic era in medicine. This study isolated and characterized Escherichia coli and Staphylococcus aureus bacteriophage on students and faculty at Coastal Carolina University as a means to understand the viability of human bacteriophage reservoirs for bacteriophage therapy. From September 2021 to March 2022, nasal and postauricular swab samples and a behavioral survey were collected from ninety-three randomly selected participants. Additionally, sixteen participants contributed nasal and postauricular swab samples and a behavioral survey on a monthly basis in a …

The Exercise Metabolome: Acute Aerobic And Anaerobic Signatures, Joseph K. Pellegrino, Tracy G. Anthony, Peter Gillies, Shawn M. Arent

Faculty Publications

Background

Exercise modality differentially alters body composition and physical performance. Metabolic changes underlying these outcomes can be tracked through assessment of circulating metabolites. Here, global responses to an acute bout of aerobic or anaerobic exercise were compared in the serum of male and female subjects using a discovery-based metabolomics platform.

Methods

On separate days, 40 healthy, active participants completed 45 min of aerobic cycling or resistance exercise, and blood samples were collected at rest, immediately after (T1) and 1 hour post-exercise (T2) to examine the serum metabolomic landscape.

Results

The two exercise metabolomes appeared more similar than different in this …

Millennial Retention Through Wellness In The Automotive Manufacturing Industry, Caroline Patterson

Senior Theses

Wellness programs are known to be effective and beneficial to both companies and their employees, especially among millennials. Even more importance is now assigned to implementing new strategies for attracting and retaining millennials in the wake of the Great Resignation. This is imperative particularly for automotive manufacturing companies. Attracting and retaining millennials effectively can be done by considering and implementing holistic wellness programs that address all four of the following factors: physical health, mental and emotional health, community and family health, and financial health. Within these four pillars, a company should integrate incentives; accessibility and flexibility; diversity equity and inclusion; …

Implementation Of A Bowel Management Care Bundle On The Spinal Cord Injury Patient Population During Acute Recovery, Jessica Rene Baldwin

Doctor of Nursing Practice Scholarly Projects

Over 17,000 Americans suffer from spinal cord injuries (SCI) annually. Although the loss of motor function is a blatantly obvious sequela, the loss of autonomic nervous system control, and its direct effects on various body systems, is scarcely understood. The most frequently reported impairment associated with SCI-related bowel dysmotility is Neurogenic Bowel Dysfunction (NBD), affecting approximately 20-60% of the SCI population. NBD is defined as slow colonic time and is hallmarked by constipation and often impaction, leading to life-threatening complications, such as bowel obstruction, fecal impaction, autonomic dysreflexia, and even death. Identifying dysmotility within the SCI patient population and early …

Organizational Readiness For Implementing A Postpartum Depression Screening Protocol In The Nicu, Deanna L. Suber

Doctor of Nursing Practice Scholarly Projects

Problem Statement: Postpartum depression (PPD) is a major depressive disorder that is the most common complication following childbirth, occurring in about 16% of new mothers (Berns et al., 2021). Mothers with infants in the Neonatal Intensive Care Unit (NICU) are 40% more likely to develop PPD but are not typically screened for this complication (Berns et al., 2021; Cherry et al., 2016; Garfield et al., 2021). Implementing a PPD screening protocol in the NICU could help increase the detection of PPD in this population but would first require an evaluation of organizational readiness to ensure sustainability. Purpose: The purpose of …

Using A Clinical Reminder Tool To Impact Vitamin D Screening, Mercy Roy

Doctor of Nursing Practice Scholarly Projects

Problem Statement: Chronic pain patients with widespread musculoskeletal pain are not adequately screened for possible vitamin D deficiency by healthcare providers. Purpose: This quality improvement project (Q.I.) aimed to improve the screening rates for vitamin D among healthcare providers by implementing a clinical reminder tool within the documentation section of the electronic medical records (EMRs) in an outpatient federally funded pain clinic located in the Southeastern region of South Carolina. Methods: A clinical reminder template was embedded within the EMR documentation to increase screening for vitamin D levels for chronic pain patients among healthcare providers. Data were collected six weeks …

Decreasing Pressure Injuries From Respiratory Devices In The Pediatric Intensive Care Unit, Samantha Nicole Elliott

Doctor of Nursing Practice Scholarly Projects

Problem: Patients developing pressure injuries while admitted to the hospital has become a nationwide problem. The national annual cost of treating pressure injuries is $11 billion dollars, with up to $70,000 dollars for stage four pressure injuries (Cooper et al., 2020).

Purpose: The purpose of this project was to implement the use of a silicone foam dressing under respiratory devices, monitored using kamishibai cards (k-cards) to decrease pressure injuries. K-cards are a rounding tool that staff can use to identify barriers that prevent the standard of care.

Intervention: A pre-study, three-month period, was compared to the implementation period in the …

Screening For Prediabetes In The Inpatient Setting, Mikayla Jordan Moore

Doctor of Nursing Practice Scholarly Projects

Problem Statement: Many patients that utilize the hospital system do not see a primary care provider and, therefore, miss important screenings. The hospital system can provide convenient screenings, or screenings conducted whenever a patient encounters the health system regardless of their chief complaint (Obinwa et al., 2020).

Purpose: Determine whether convenient prediabetes screenings administered to admitted patients on an Intermediate Critical Care Unit (ICCU) detect prediabetes at a higher rate than no formal screenings.

Methods: Participants will be sampled from those admitted to an intermediate critical care unit at a large acute-care facility.

Inclusion Criteria: Any adult patient (>18 …

Nutrition Facts Label Use Among U.S. Adolescents, Jennifer Beth Mandelbaum

Theses and Dissertations

Despite the promise of Nutrition Facts label (NFL) use as a population-level intervention with broad reach, few studies have examined determinants of adolescents’ NFL use, and how this label use may be associated with nutrition behaviors. This study used data from the International Food Policy Study, an online cross-sectional survey of trends in dietary patterns and policy-relevant behaviors in the U.S. and five other countries. First, this study examined 1) whether NFL use was associated with healthy eating efforts and 2) whether there were sociodemographic differences in NFL use among U.S. adolescents. Results demonstrated that NFL use was positively associated …

The Effects Of Trauma And Statelessness On Refugee Employment Outcomes, Seth Hershberger

Theses and Dissertations

An empirical study, this paper examines the relationship of pre-resettlement refugee characteristics on their respective economic outcomes post-resettlement. In particular, it places special focus on the correlation that a refugee’s level of trauma and duration of statelessness, or time spent in a temporary country of asylum, have with that refugee’s real wages, probability of being employed at 180 days post-resettlement, and duration of initial unemployment in the country of final resettlement. Through the development of three sets of models, this paper finds a quadratic relationship between the length of a refugee’s statelessness and real wages post-resettlement, where increases in duration …

Association Of Prior Periodontal Disease With Cancer – Exploring Epidemiologic Evidence Of Periodontal Exudate-Exposed Site Cancer Risk Versus Remote Gastrointestinal Sites, Asma Alzahrani

Theses and Dissertations

Background: Periodontal disease, a chronic bacterial infection of the gums, if untreated, causes chronic inflammation over years and eventual tooth loss. The associations between periodontal disease (measured by missing teeth) and certain sites of cancer have been established, in epidemiological studies, and attributed to systemic inflammatory impacts causing carcinogenic change over decades. Because periodontal exudates are toxic, containing locally bioactive bacteria and toxins, this study hypothesized and studied the potential higher cancer risk of anatomic sites exposed to oral exudates (exudate-exposed site cancers (EEC); head and neck, oral, pharynx, larynx, esophagus, stomach). The study studied the risk of exudate exposed …

Deciphering The Molecular Circuitry That Controls Iron Regulation In Non-Pathogenic Yeast, Debolina Hati

Theses and Dissertations

The trace metal iron is essential for the survival of almost all living organisms. It is a co-factor for many proteins involved in a variety of vital functions such as respiration, nitrogen fixation, and DNA biosynthesis, to name a few. Iron homeostasis in non-pathogenic fungi such as Schizosaccharomyces pombe has been extensively studied over the past few decades to better understand how intracellular iron is regulated under different environmental conditions. Iron regulation in S. pombe is controlled by two Fe-responsive transcriptional repressors known as Php4 and Fep1. Both rely on iron-sulfur (Fe-S) clusters as signals to balance iron acquisition, storage, …

Novel Dietary Index For Gut Microbiota And Associations With Colorectal Cancer And Breast Cancer Risk, Bezawit Eyob Kase

Theses and Dissertations

Introduction: Diet serves as a driving force for shaping the gut microbiome. Understanding how diet may modify gut microbiota and subsequently may be associated with chronic disease is critical to public health prevention efforts. Aims: We aimed to develop a novel dietary index that captures the quality of diet with respect to attaining beneficial composition and function of gut microbiota. We then examined the relationship between the dietary index and two gut microbiota-related cancers, i.e., colorectal and breast cancers.

Methods: We conducted a systematic review of studies that examined the effect of foods on gut microbiota in adult populations. Dietary …

Assessment Of The Quality Of Emergency Obstetric Care In Public Hospitals In Bangladesh: Evidence From The National Health Facility Assessment Survey, Kaji Korotki

Theses and Dissertations

INTRODUCTION: The quality of obstetric care is low in Bangladesh, especially at the sub-district level, and below sub-district level facilities such as union health centers and community clinics. Using nationally representative health facility assessment survey data, this study assessed the change in the quality of basic and comprehensive obstetric care in terms of human resources, equipment, and service availability at sub-district public health facilities in 2014 and 2017.

METHODS: Based on Donabedian’s model of quality of care (QoC), the quality of comprehensive delivery care was measured using an index of 9 indicators known as Signal Functions (SF), while basic obstetric …

Xenobiotic Exposures On Women’S Reproductive Health, Maria Zubizarreta Mcclam

Theses and Dissertations

Environmental and chemical exposures are continually introduced into our bodies. The female reproductive cycle is complex and particularly sensitive to toxic substances. A recent rise in infertility and reproductive diseases and cancers make reproductive toxicity a public health concern. The overall purpose of this dissertation is to explore how environmental and chemical exposures impact women’s reproductive health and overall wellbeing. To do this, a variety of topics related to women’s reproductive health are explored, including how environmental exposures can impact reproduction, methods for studying reproductive dysfunctions, fertility preservation among cancer patients, and the overall wellbeing of female cancer patients.

The …

Dietary Inflammatory Index And Mortality From All Causes, Cardiovascular Disease, And Cancer: A Prospective Study, Zhen Lin, Yanfei Feng, Nitin Shivappa Mbbs, Mph, Ph.D., James R. Hébert Scd, Xin Xu

Faculty Publications

The Energy-adjusted Dietary Inflammatory Index (E-DIITM) is a comprehensive, literature-derived index for assessing the effect of dietary constituents on inflammatory biomarkers and inflammation-related chronic diseases. Several studies have examined the association between E-DII scores and mortality, with results that vary across populations. Therefore, in the present study, we aimed to investigate the potential association between E-DII scores and all-cause, cardiovascular disease (CVD), and cancer mortality using data from the Prostate, Lung, Colorectal and Ovarian (PLCO) Screening Trial. E-DII scores, calculated based on a food-frequency questionnaire, were analyzed both as a continuous variable and after categorization into quintiles. A multivariate Cox …

Genome-Wide Association Analyses Of Physical Activity And Sedentary Behavior Provide Insights Into Underlying Mechanisms And Roles In Disease Prevention, Zhe Wang, Andrew Emmerich, Nicolas J. Pillon, Tim Moore, Daiane Hemerich, Marilyn C. Cornelis, Eugenia Mazzaferro, Siacia Broos, Tarunveer S. Ahluwalia, Traci M. Bartz, Amy R. Bentley, Lawrence F. Bielak, Mike Chong, Audrey Y. Chu, Diane Berry, Rajkumar Dorajoo, Nicole D. Dueker, Elisa Kasbohm, Bjarke Feenstra, Mary F. Feitosa, Mark A. Sarzynski Ph.D., Faha, Facsm, Et. Al.

Faculty Publications

Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training. A missense variant in ACTN3 makes the alpha-actinin-3 filaments more flexible, resulting in lower maximal force in isolated type IIA muscle …