Nutrition Commons^™

Comment On Marsigliante Et Al Effects On Children's Physical And Mental Well-Being Of A Physical-Activity-Based School Intervention Program: A Randomized Study, Raphiel Murden, Jon Agley, Lilian Golzarri-Arroyo, Armando Peña, Danny Valdez, Abu Bakkar Siddique, Moonseong Heo, David B Allison

Children’s Nutrition Research Center Staff Publications

We conducted a critical review of the article “Effects on Children’s Physical and Mental Well-Being of a Physical-Activity-Based School Intervention Program: A Randomized Study”, published in the International Journal of Environmental Research and Public Health in 2023 as part of the Special Issue “Psychomotricity and Physical Education in School Health”. We identified multiple mistakes in the statistical analyses applied. First, the authors claim to have found a statistically significant association between the proposed intervention and change in body composition (body mass index (BMI) percentiles, relative fat mass, and BMI classes) by way of exhibiting differences in nominal significance between the …

Design, Analysis, And Interpretation Of Treatment Response Heterogeneity In Personalized Nutrition And Obesity Treatment Research, Roger S Zoh, Bridget H Esteves, Xiaoxin Yu, Amanda J Fairchild, Ana I Vazquez, Andrew G Chapple, Andrew W Brown, Brandon George, Derek Gordon, Douglas Landsittel, Gary L Gadbury, Greg Pavela, Gustavo De Los Campos, Luis M Mestre, David B Allison

Children’s Nutrition Research Center Staff Publications

It is increasingly assumed that there is no one-size-fits-all approach to dietary recommendations for the management and treatment of chronic diseases such as obesity. This phenomenon that not all individuals respond uniformly to a given treatment has become an area of research interest given the rise of personalized and precision medicine. To conduct, interpret, and disseminate this research rigorously and with scientific accuracy, however, requires an understanding of treatment response heterogeneity. Here, we define treatment response heterogeneity as it relates to clinical trials, provide statistical guidance for measuring treatment response heterogeneity, and highlight study designs that can quantify treatment response …

A Qualitative Study On Parenting Practices To Sustain Adolescent Health Behaviors In American Indian Families, Christine Hodgson, Dylan Decker, Teresia M O'Connor, Melanie Hingle, Francine C Gachupin

Children’s Nutrition Research Center Staff Publications

American Indian (AI) adolescents who practice healthy behaviors of sleep, nutrition, physical activity, and limited screen time can lower their lifetime risk of diet-sensitive disease. Little is known about how AI parenting practices influence the health behaviors of youth. The objective of this qualitative study was to explore how a group of AI parents of youths at risk of disease influenced their youth’s health behaviors after a family intervention. A secondary objective was to understand the role of AI parents in supporting and sustaining health behavior change in their youths following the intervention. Semi-structured in-depth interviews were conducted with AI …

Examining Potential Modifiers Of Human Skin And Plasma Carotenoid Responses In A Randomized Trial Of A Carotenoid-Containing Juice Intervention, Stephanie B Jilcott Pitts, Qiang Wu, Nancy E Moran, Melissa N Laska, Lisa Harnack

Children’s Nutrition Research Center Staff Publications

Background: Skin carotenoid measurements are emerging as a valid and reliable indicator of fruit and vegetable intake and carotenoid intake. However, little is known about the extent to which skin carotenoid responsivity to dietary changes differs based on demographic and physiologic characteristics.

Objectives: This study examined potential effect modifiers of skin carotenoid and plasma carotenoid responses to a carotenoid-rich juice intervention.

Methods: We leveraged data from 2 arms of a 3-site randomized controlled trial of a carotenoid-containing juice intervention (moderate dose = 6 ounces juice, 4 mg total carotenoids/d, high dose = 12 ounces juice, 8 mg total carotenoids/d) (n …

Dietary Habits, Meal Timing, And Meal Frequency In Kuwaiti Adults: Analysis Of The Kuwait National Nutrition Surveillance Data, Fatema Alkhulaifi, Suad Al-Hooti, Sameer Al-Zenki, Husam Alomirah, Charles Darkoh

Faculty, Staff and Student Publications

Dietary habits, including meal frequency, meal timing, and skipping meals, have been extensively studied due to their association with the development of noncommunicable diseases (NCDs). This study describes dietary habits, meal timing, frequency, skipping meals, and late-night eating in Kuwaiti adults. Kuwait National Nutrition Surveillance System data were utilized to reach the objectives of this study. The findings reveal that approximately 54% of the adults in Kuwait eat after 10 p.m., 29% skip breakfast, and 9.8% skip dinner. Furthermore, adults in Kuwait consume 4.4 meals per day on average. Women skip breakfast more often and have more extended night fasting …

Causal Models And Causal Modelling In Obesity: Foundations, Methods And Evidence, Roger S Zoh, Xiaoxin Yu, Philip Dawid, George Davey Smith, Stephen J French, David B Allison

Children’s Nutrition Research Center Staff Publications

Discussing causes in science, if we are to do so in a way that is sensible, begins at the root. All too often, we jump to discussing specific postulated causes but do not first consider what we mean by, for example, causes of obesity or how we discern whether something is a cause. In this paper, we address what we mean by a cause, discuss what might and might not constitute a reasonable causal model in the abstract, speculate about what the causal structure of obesity might be like overall and the types of things we should be looking …

U.S. Adolescent Rest-Activity Patterns: Insights From Functional Principal Component Analysis (Nhanes 2011–2014), Chris Ho Ching Yeung, Jiachen Lu, Erica G Soltero, Cici Bauer, Qian Xiao

Children’s Nutrition Research Center Staff Publications

Background: Suboptimal rest-activity patterns in adolescence are associated with worse health outcomes in adulthood. Understanding sociodemographic factors associated with rest-activity rhythms may help identify subgroups who may benefit from interventions. This study aimed to investigate the association of rest-activity rhythm with demographic and socioeconomic characteristics in adolescents.

Methods: Using cross-sectional data from the nationally representative National Health and Nutrition Examination Survey (NHANES) 2011-2014 adolescents (N = 1814), this study derived rest-activity profiles from 7-day 24-hour accelerometer data using functional principal component analysis. Multiple linear regression was used to assess the association between participant characteristics and rest-activity profiles. Weekday and weekend …

Expert Panel Curation Of 113 Primary Mitochondrial Disease Genes For The Leigh Syndrome Spectrum, Elizabeth M Mccormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman

Children’s Nutrition Research Center Staff Publications

Objective: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of PMD in children, but may also present in adults. A major challenge for accurate diagnosis of LSS in the genomic medicine era is establishing gene-disease relationships (GDRs) for this syndrome with >100 monogenic causes across both nuclear and mitochondrial genomes.

Methods: The Clinical Genome Resource (ClinGen) Mitochondrial Disease Gene Curation Expert Panel (GCEP), comprising 40 international PMD experts, met monthly for 4 years to review GDRs for LSS. The GCEP …

Ignoring Clustering And Nesting Effects Are Invalid Analysis Choices In A Trial With Clustered Data In Trials Testing Causal Effects Re: "Impact Of A Montessori-Based Nutrition Program On Children's Knowledge And Eating Behaviors", Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Abu Bakkar Siddique, Deborah H Glueck, David B Allison

Children’s Nutrition Research Center Staff Publications

Vitale and Coccia conducted a study to examine the effects of a nutrition education program among school children, and reported statistically significant between-group effects for nutrition knowledge and liking tomatoes. In the study blocks of classrooms were assigned to the study conditions. Thus, with children nested within classrooms, and classrooms nested within blocks, the study has a two-level design, and block is the independent sampling unit. The analysis of the study must account for the two levels of clustering, but it did not. This render the conclusions reported in the paper unsubstantiated. For correcting the scientific record, reanalysis of the …

Evaluation Of Acceptability, Functionality, And Validity Of A Passive Image-Based Dietary Intake Assessment Method In Adults And Children Of Ghanaian And Kenyan Origin Living In London, Uk, Modou L Jobarteh, Megan A Mccrory, Benny Lo, Konstantinos K Triantafyllidis, Jianing Qiu, Jennifer P Griffin, Edward Sazonov, Mingui Sun, Wenyan Jia, Tom Baranowski, Alex K Anderson, Kathryn Maitland, Gary Frost

Children’s Nutrition Research Center Staff Publications

Background: Accurate estimation of dietary intake is challenging. However, whilst some progress has been made in high-income countries, low- and middle-income countries (LMICs) remain behind, contributing to critical nutritional data gaps. This study aimed to validate an objective, passive image-based dietary intake assessment method against weighed food records in London, UK, for onward deployment to LMICs.

Methods: Wearable camera devices were used to capture food intake on eating occasions in 18 adults and 17 children of Ghanaian and Kenyan origin living in London. Participants were provided pre-weighed meals of Ghanaian and Kenyan cuisine and camera devices to automatically capture images …

Corrected Analysis Of “The Effects Of Bright Light Treatment On Affective Symptoms In People With Dementia: A 24-Week Cluster Randomized Controlled Trial” That Accounts For Clustering And Nesting Verifies Conclusions, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Abu Bakkar Siddique, Colby J Vorland, Miriam Jocelyn Rodriguez, Richard J Holden, David B Allison

Children’s Nutrition Research Center Staff Publications

In this correspondence, we explain the reasoning for invalidity of the analysis choices by Kolberg et al., and provide the results produced using correct statistical procedures for their study design. Reassuringly, we could verify the original conclusions. That is, results of the corrected statistical models are similar to the results of the original analysis. Regardless of the magnitude of difference that corrected statistical methods make, results and conclusions that are derived from invalid methods are unsubstantiated. By verifying the results, we allow the readers to be assured that the published conclusions in the study by Kolberg et al. now rest …

Preface: Causes Of Obesity, Theories, Conjectures And Evidence, David B Allison, Thorkild I A Sørensen, Kevin D Hall, John R Speakman

Children’s Nutrition Research Center Staff Publications

No abstract provided.

One Cluster Per Condition Is Not A Valid Design In Cluster-Randomized Trials Comment On Wang Et Al The Effect Of Different Physical Exercise Programs On Physical Fitness Among Preschool Children: A Cluster-Randomized Controlled Trial Int J Environ Res Public Health 2023, 20, 4254, Yasaman Jamshidi-Naeini, Armando Pena, Abu Bakkar Siddique, Andrew W Brown, David B Allison

Children’s Nutrition Research Center Staff Publications

Wang et al. [...].

Easy To Miss Large Left Atrial Myxoma, Art Burgess Kelleher, Tara Ní Dhonnchu, Carl Vaughan, Terence M O'Connor

Children’s Nutrition Research Center Staff Publications

No abstract provided.

Metabolomic Profile Of The Healthy Eating Index-2015 In The Multiethnic Study Of Atherosclerosis, Meghana D Gadgil, Alexis C Wood, Ibrahim Karaman, Goncalo Graça, Ioanna Tzoulaki, Victor W Zhong, Philip Greenland, Alka M Kanaya, David M Herrington

Children’s Nutrition Research Center Staff Publications

Background: Poor diet quality is a risk factor for type 2 diabetes and cardiovascular disease. However, knowledge of metabolites marking adherence to Dietary Guidelines for Americans (2015 version) are limited.

Objectives: The goal was to determine a pattern of metabolites associated with the Healthy Eating Index (HEI)-2015, which measures adherence to the Dietary Guidelines for Americans.

Methods: The analysis examined 3557 adult men and women from the longitudinal cohort Multiethnic Study of Atherosclerosis (MESA), without known cardiovascular disease and with complete dietary data. Fasting serum specimens and diet and demographic questionnaires were assessed at baseline. Untargeted 1H 1-dimensional nuclei magnetic …

Undisclosed Outcome Switching, Undisclosed Analysis Switching, Inappropriate Rounding, And Selective Reporting Render Paper “Effectiveness Of A Minimally Processed Food-Based Nutritional Counselling Intervention On Weight Gain In Overweight Pregnant Women: A Randomized Controlled Trial” Unreliable, Armando Peña, Mike Gibney, Kevin Hall, Theodore K Kyle, Andrew W Brown, David B Allison

Children’s Nutrition Research Center Staff Publications

No abstract provided.

Identification Of Genetic Variation Influencing Metformin Response In A Multiancestry Genome-Wide Association Study In The Diabetes Prevention Program (Dpp), Josephine H Li, James A Perry, Kathleen A Jablonski, Shylaja Srinivasan, Ling Chen, Jennifer N Todd, Maegan Harden, Josep M Mercader, Qing Pan, Adem Y Dawed, Sook Wah Yee, Ewan R Pearson, Kathleen M Giacomini, Ayush Giri, Adriana M Hung, Shujie Xiao, L Keoki Williams, Paul W Franks, Robert L Hanson, Steven E Kahn, William C Knowler, Toni I Pollin, Jose C Florez, Diabetes Prevention Program Research Group

Children’s Nutrition Research Center Staff Publications

Genome-wide significant loci for metformin response in type 2 diabetes reported elsewhere have not been replicated in the Diabetes Prevention Program (DPP). To assess pharmacogenetic interactions in prediabetes, we conducted a genome-wide association study (GWAS) in the DPP. Cox proportional hazards models tested associations with diabetes incidence in the metformin (MET; n = 876) and placebo (PBO; n = 887) arms. Multiple linear regression assessed association with 1-year change in metformin-related quantitative traits, adjusted for baseline trait, age, sex, and 10 ancestry principal components. We tested for gene-by-treatment interaction. No significant associations emerged for diabetes incidence. We identified four genome-wide …

Factors Associated With Choice Of Behavioural Weight Loss Program By Adults With Obesity, Yasaman Jamshidi-Naeini, Susan B Roberts, Stephanie Dickinson, Arthur Owora, Jon Agley, Roger S Zoh, Xiwei Chen, David B Allison

Children’s Nutrition Research Center Staff Publications

We assessed the preference for two behavioural weight loss programs, Diabetes Prevention Program (DPP) and Healthy Weight for Living (HWL) in adults with obesity. A cross-sectional survey was fielded on the Amazon Mechanical Turk. Eligibility criteria included reporting BMI ≥30 and at least two chronic health conditions. Participants read about the programs, selected their preferred program, and answered follow-up questions. The estimated probability of choosing either program was not significantly different from .5 (N = 1005, 50.8% DPP and 49.2% HWL, p = .61). Participants' expectations about adherence, weight loss magnitude, and dropout likelihood were associated with their choice (p <  .0001). Non-White participants (p = .040) and those with monthly income greater than $4999 (p = .002) were less likely to choose DPP. Participants who had postgraduate education (p = .007), did not report high serum cholesterol (p = .028), and reported not having tried losing weight before (p = .025) were more likely to choose DPP. Those who chose HWL were marginally more likely to report that being offered two different programs rather than one would likely affect their decision to enrol in one of the two (p = .052). The enrolment into DPP and HWL was balanced, but race, educational attainment, income, previous attempt to lose weight, and serum cholesterol levels had significant associations with the choice of weight loss program.

Pseudohypercreatininemia After Surgery For Aortic Dissection: A Case Report, Ayako Tasaki, Makoto Fukuda, Yuki Ikeda, Masatora Yamasaki, Ikko Yamaguchi, Shinichi Aishima, Motoaki Miyazono

Children’s Nutrition Research Center Staff Publications

Background: Elevated creatinine concentrations often indicate acute renal injury and renal biopsies are considered in this situation. However,pseudohypercreatininemia is potential cause of elevated creatinine concentrations, and invasive interventions should be avoided.

Case presentation: A 54-year-old woman underwent surgery for descending aortic dissection.Nine days postoperatively, her creatinine concentration increased from 1 mg/dl to 5.78 mg/dl (normal range, 0.47-0.7 mg/dl). Azotemia and hyperkalemia were absent and physical examination findings were unremarkable. Cystatin C concentration was 1.56 mg/l (normal range, 0.56-0.8 mg/l) and pseudohypercreatininemia was suspected. Testing with different reagents showed a creatinine concentration of 0.84 mg/dl. Immunoglobulin (Ig)G was markedly elevated, and …

Orchestration Of Mirna Patterns By Testosterone And Dietary Tomato Carotenoids During Early Prostate Carcinogenesis In Tramp Mice, Lei Wan, Jennifer M Thomas-Ahner, Dennis K Pearl, John W Erdman, Nancy E Moran, Steven K Clinton

Children’s Nutrition Research Center Staff Publications

Background: The integrative effects of prostate cancer risk factors, such as diet and endocrine status, on cancer-associated miRNA expression are poorly defined.

Objectives: This study aimed to define the influence of androgens and diet (tomato and lycopene) on prostatic miRNA expression during early carcinogenesis in the transgenic adenocarcinoma of the mouse prostate (TRAMP) model.

Methods: Wild type (WT) and TRAMP mice were fed control, tomato-containing, or lycopene-containing diets from 4 to 10 weeks of age. Mice underwent either sham (intact) or castration surgery at 8 wk, and half of the castrated mice received testosterone (2.5 mg/kg body weight/d) at 9 …

Creativity In Energy Balance, Obesity And Feeding Behavior Research, Some Thoughts, Stephen J French, David B Allison

Children’s Nutrition Research Center Staff Publications

This review provides an overview of examples of especially creative work related to the fields of ingestive behavior, energetics (defined as the study of the acquisition, storage, and use of metabolizable energy by biological organisms and the causes and consequences of such acquisition, storage, and use), and nutrition, focusing on both individual works and discoveries, as well as bodies of works and in some cases the working styles of particular scientists. The paper then discusses some principles extracted from our observations as well as from the literature on creativity pointing out some factors that seem to make for more creative …

Comparison Of Female Ovarian Reserve Before Vs After Covid-19 Vaccination, Liubin Yang, Samantha Neal, Tiffany Lee, Andrew Chou, Amy K Schutt, William Gibbons

Children’s Nutrition Research Center Staff Publications

This cohort study examines the association of COVID-19 vaccination with levels of anti-Mullerian hormone and antral follicle count in women seeking fertility treatment.

Birth Weight Moderates The Association Between Obesity And Mortality Rate, Gregory Pavela, Nengjun Yi, Luis Mestre, Pengcheng Xun, David B Allison

Children’s Nutrition Research Center Staff Publications

Purpose: The strength of the association between obesity and mortality rate (MR) varies by body mass index (BMI) and sociodemographic groups. We test the hypothesis that the association between obesity and MR varies, in part, due to the moderating effect of parental BMI and birth weight.

Methods: Data come from the 1958 National Child Development Study, an ongoing longitudinal dataset initiated in 1958 with baseline measures of birth weight from 18,059 infants born in Great Britain over 1 week. We tested whether the association between BMI and MR was moderated by parental BMI and birth weight using generalized additive proportional …

Effectiveness Of Lactation Cookies On Human Milk Production Rates: A Randomized Controlled Trial, Ana M Palacios, Michelle I Cardel, Erik Parker, Stephanie Dickinson, Valerie R Houin, Bridget Young, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: Expensive lactation cookies (LCs) are marketed as milk boosters; however, their effectiveness remains unknown.

Objectives: The objective of this study was to evaluate the effectiveness of the 1-mo daily intake of LCs on changes in objective and subjective milk production and breastfeeding self-efficacy.

Methods: This is a 1-mo, randomized controlled trial among 18-45-y-old exclusively lactating parents of healthy, term, 2-mo-old infants living in the United States from March to December 2021. Participants (n = 176) were randomly assigned to eat daily 56.5 g of either LCs with "galactagogues" (oatmeal, brewer's yeast, flax seeds, and fenugreek) or conventional cookies containing …

Fruit And Vegetable Intake And Home Nutrition Environment Among Low-Income Minority Households With Elementary-Aged Children, Brittni Naylor Metoyer, Ru-Jye Chuang, Minjae Lee, Christine Markham, Eric L Brown, Maha Almohamad, Jayna M Dave, Shreela V Sharma

Faculty, Staff and Student Publications

Racial/ethnic and socioeconomic differences were shown to have an influence on child fruit and vegetable intake. This study examined the associations between parent and child fruit and vegetable intake and the home nutrition environment among Hispanic/Latino and African American families. Through a cross-sectional study design, self-reported surveys (

Reflection Spectroscopy-Assessed Skin Carotenoids Are Sensitive To Change In Carotenoid Intake In A 6-Week Randomized Controlled Feeding Trial In A Racially/Ethnically Diverse Sample, Stephanie Jilcott Pitts, Nancy E Moran, Melissa N Laska, Qiang Wu, Lisa Harnack, Stacey Moe, Pamela Carr-Manthe, Elizabeth Gates, Jocelyn Chang, Yusuf Zaidi, Abigail Gelineau, Lauren Berg, Neal E Craft

Children’s Nutrition Research Center Staff Publications

Background: Reflection spectroscopy, utilized by the Veggie Meter, is a less-expensive, noninvasive method to quantify skin carotenoids and is a valid approximation of fruit and vegetable (FV) intake. However, it is unknown to what degree Veggie Meter-assessed skin carotenoid score change is responsive to changes in carotenoid intake.

Objectives: This study aimed to evaluate Veggie Meter-assessed skin carotenoid score response in a 6-wk randomized controlled trial of a carotenoid-containing juice to determine whether the Veggie Meter can be used to detect nutritionally relevant changes in carotenoid intake; and to compare skin and plasma carotenoid responses with the 6-wk trial.

Methods: …

Diet, Physical Activity, And Stress Among Wheelchair Users With Multiple Sclerosis: Examining Individual And Co-Occurring Behavioral Risk Factors, Stephanie L Silveira, Brenda Jeng, Gary Cutter, Robert W Motl

Faculty, Staff and Student Publications

OBJECTIVE: This study examined individual and co-occurring behavioral risk factors (diet, exercise, and stress) in wheelchair users with multiple sclerosis (MS) and potential association with MS symptoms (ie, fatigue, depression, anxiety, pain, sleep, and health-related quality of life [HRQOL]).

DESIGN: Survey.

SETTING: General Community.

PARTICIPANTS: One hundred twenty-three wheelchair users with MS completed this study (N=123).

INTERVENTIONS: Not applicable.

MAIN OUTCOME MEASURES: Participants were mailed instructions for accessing online questionnaires (demographic and clinical characteristics, Godin Leisure-Time Exercise Questionnaire, Perceived Stress Scale, Automated Self-Administered 24-Hour Dietary Assessment Tool, and MS symptoms).

RESULTS: Standard cut-points were used to categorize behavioral risk factors …

Plasma Metabolites Associated With Cognitive Function Across Race/Ethnicities Affirming The Importance Of Healthy Nutrition, Einat Granot-Hershkovitz, Shan He, Jan Bressler, Bing Yu, Wassim Tarraf, Casey M Rebholz, Jianwen Cai, Queenie Chan, Tanya P Garcia, Thomas Mosley, Bruce S Kristal, Charles Decarli, Myriam Fornage, Guo-Chong Chen, Qibin Qi, Robert Kaplan, Hector M González, Tamar Sofer

Faculty, Staff and Student Publications

INTRODUCTION: We studied the replication and generalization of previously identified metabolites potentially associated with global cognitive function in multiple race/ethnicities and assessed the contribution of diet to these associations.

METHODS: We tested metabolite-cognitive function associations in U.S.A. Hispanic/Latino adults (n = 2222) from the Community Health Study/ Study of Latinos (HCHS/SOL) and in European (n = 1365) and African (n = 478) Americans from the Atherosclerosis Risk In Communities (ARIC) Study. We applied Mendelian Randomization (MR) analyses to assess causal associations between the metabolites and cognitive function and between Mediterranean diet and cognitive function.

RESULTS: Six metabolites were consistently associated …

Use Of Dual Genomic Sequencing To Screen Mitochondrial Diseases In Pediatrics: A Retrospective Analysis, Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He

Children’s Nutrition Research Center Staff Publications

Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively sequencing has improved diagnostic rates and speed, and was increasingly being used as a first-line diagnostic test. Paediatric patients (aged <  18 years) who underwent dual genomic sequencing were enrolled in this retrospective multicentre study. We evaluated the mitochondrial disease criteria (MDC) and molecular diagnostic yield of dual genomic sequencing. Causative variants were identified in 177 out of 503 (35.2%) patients using dual genomic sequencing. Forty-six patients (9.1%) had mitochondria-related variants, including 25 patients with nuclear DNA (nDNA) variants, 15 with mitochondrial DNA (mtDNA) variants, and six with dual genomic variants (MT-ND6 and POLG; MT-ND5 and RARS2; MT-TL1 and NARS2; MT-CO2 and NDUFS1; MT-CYB and SMARCA2; and CHRNA4 and MT-CO3). Based on the MDC, 15.2% of the patients with mitochondria-related variants were classified as "unlikely to have mitochondrial disorder". Moreover, 4.5% of the patients with non-mitochondria-related variants and 1.43% with negative genetic tests, were classified as "probably having mitochondrial disorder". Dual genomic sequencing in suspected MDs provided a more comprehensive and accurate diagnosis for pediatric patients, especially for patients with dual genomic variants.

Validation Of The Entrainment Signal Regularity Index And Associations With Children’S Changes In Bmi, Jennette P Moreno, Kevin M Hannay, Amy R Goetz, Olivia Walch, Philip Cheng

Children’s Nutrition Research Center Staff Publications

Objective: This study examined the validity of a novel metric of circadian health, the Entrainment Signal Regularity Index (ESRI), and its relationship to changes in BMI during the school year and summer.

Methods: In a longitudinal observational data set, this study examined the relationship between ESRI score and children's (n = 119, 5- to 8-year-olds) sleep and physical activity levels during the school year and summer, differences in ESRI score during the school year and summer, and the association of ESRI score during the school year and summer with changes in BMI across those time periods.

Results: The ESRI score …