Nutrition Commons^™

Investigation Of Setmelanotide, An Mc4r Agonist, For Obesity In Individuals With Smith-Magenis Syndrome, Julia Lazareva, Stephanie R Sisley, Sheila M Brady, Ann C M Smith, Sarah H Elsea, Jeremy J Pomeroy, Christian L Roth, Jennifer E Sprague, Martin Wabitsch, Jill Garrison, Jack A Yanovski

Children’s Nutrition Research Center Staff Publications

Background: Smith Magenis Syndrome (SMS) is a rare genetic disorder caused by RAI1 haploinsufficiency. Obesity in people with SMS is believed partially due to dysfunction of the proximal melanocortin 4 receptor (MC4R) pathway. We therefore studied effects of treatment with the MC4R agonist setmelanotide on obesity and hunger, as well as metabolic, cardiac and safety, in individuals with SMS.

Methods: People with SMS received once-daily setmelanotide injections, with the dose titrated bi-weekly to a maximum of 3 mg over ∼1 month; and a full-dose treatment duration of 3mo. The primary outcome was percent change in body weight. Secondary outcomes included …

Advancing School Nursing Practice: A Novel Approach To Screening For Gastrointestinal Disorders In Children, Ashley Bunting, Isabella Cavlan

Nursing | Senior Theses

Background: Currently, mandated health screenings in California schools are limited to vision, hearing, and scoliosis; this leaves several other body systems unmonitored during the crucial years of childhood development. One such system is the gastrointestinal (GI) system, which plays a vital role in the normal growth, nutrition status, development, and overall health of children. Objective: By developing and implementing a GI-specific screening tool in the outpatient school setting, this research aims to increase the detection of GI disorders in children. Not only that, but school nurses can use this novel screening tool to promote early diagnosis, intervention, and …

Objective Assessment Of Shared Plate Eating Using A Wearable Camera In Urban And Rural Households In Ghana, Christabel A Domfe, Megan A Mccrory, Edward Sazonov, Tonmoy Ghosh, Viprav Raju, Gary Frost, Matilda Steiner-Asiedu, Mingui Sun, Wenyan Jia, Tom Baranowski, Benny Lo, Alex K Anderson

Children’s Nutrition Research Center Staff Publications

Background: Shared plate eating (SPE), defined as two or more individuals eating directly from the same plate or bowl, is a common household food consumption practice in many Low- and Middle-Income Countries (LMICs). Examination of household engagement in SPE remains largely unexplored, highlighting a gap in research when interpreting dietary information obtained from these settings. The dearth of research into SPE can be attributed to the inherent limitations of traditional dietary assessment methods which constrain their usability in settings where SPE is common.

Objective: In this expository narrative, we describe what SPE is when it is practiced in an LMIC …

Novel, Pathogenic Insertion Variant Of Gsdme Associates With Autosomal Dominant Hearing Loss In A Large Chinese Pedigree, Jingliang Cheng, Ting Li, Qi Tan, Jiewen Fu, Lianmei Zhang, Luquan Yang, Baixu Zhou, Lisha Yang, Shangyi Fu, Alora Grace Linehan, Junjiang Fu

Children’s Nutrition Research Center Staff Publications

Nonsyndromic hearing loss (NSHL) is a genetically diverse, highly heterogeneous condition characterised by deafness, and Gasdermin E (GSDME) variants have been identified as directly inducing autosomal dominant NSHL. While many NSHL cases associated with GSDME involve the skipping of exon 8, there is another, less understood pathogenic insertion variant specifically found in Chinese pedigrees that causes deafness, known as autosomal dominant 5 (DFNA5) hearing loss. In this study, we recruited a large Chinese pedigree, conducted whole‐exome and Sanger sequencing to serve as a comprehensive clinical examination, and extracted genomic DNA samples for co‐segregation analysis of the members. Conservation …

Combinatorial Atoh1, Gfi1, Pou4f3, And Six1 Gene Transfer Induces Hair Cell Regeneration In The Flat Epithelium Of Mature Guinea Pigs, Yujie Liu, Lin Yang, Sunita Singh, Lisa A Beyer, Diane M Prieskorn, Donald L Swiderski, Andrew K Groves, Yehoash Raphael

Children’s Nutrition Research Center Staff Publications

Flat epithelium (FE) is a condition characterized by the loss of both hair cells (HCs) and supporting cells and the transformation of the organ of Corti into a simple flat or cuboidal epithelium, which can occur after severe cochlear insults. The transcription factors Gfi1, Atoh1, Pou4f3, and Six1 (GAPS) play key roles in HC differentiation and survival in normal ears. Previous work using a single transcription factor, Atoh1, to induce HC regeneration in mature ears in vivo usually produced very few cells and failed to produce HCs in severely damaged organs of Corti, especially those with FE. Studies in vitro …

A Comprehensive Review Of Advances In Hepatocyte Microencapsulation: Selecting Materials And Preserving Cell Viability, Hailian Wang, Lebin Wen, Fengdi Jiang, Pengyu Ren, Yixin Yang, Siyuan Song, Zhengteng Yang, Yi Wang

Children’s Nutrition Research Center Staff Publications

Liver failure represents a critical medical condition with a traditionally grim prognosis, where treatment options have been notably limited. Historically, liver transplantation has stood as the sole definitive cure, yet the stark disparity between the limited availability of liver donations and the high demand for such organs has significantly hampered its feasibility. This discrepancy has necessitated the exploration of hepatocyte transplantation as a temporary, supportive intervention. In light of this, our review delves into the burgeoning field of hepatocyte transplantation, with a focus on the latest advancements in maintaining hepatocyte function, co-microencapsulation techniques, xenogeneic hepatocyte transplantation, and the selection of …

Advancing Kidney Xenotransplantation With Anesthesia And Surgery – Bridging Preclinical And Clinical Frontiers Challenges And Prospects, Xiaojian Zhang, Hailian Wang, Qin Xie, Yang Zhang, Yixin Yang, Man Yuan, Yuqi Cui, Si-Yuan Song, Jianzhen Lv, Yi Wang

Children’s Nutrition Research Center Staff Publications

Xenotransplantation is emerging as a vital solution to the critical shortage of organs available for transplantation, significantly propelled by advancements in genetic engineering and the development of sophisticated immunosuppressive treatments. Specifically, the transplantation of kidneys from genetically engineered pigs into human patients has made significant progress, offering a potential clinical solution to the shortage of human kidney supply. Recent trials involving the transplantation of these modified porcine kidneys into deceased human bodies have underscored the practicality of this approach, advancing the field towards potential clinical applications. However, numerous challenges remain, especially in the domains of identifying suitable donor-recipient matches and …

Promoting Trustworthiness Of Science: Reproducing And Verifying Agarwal Et Al's (2022) Findings Through Collaborative Endeavors, Yasaman Jamshidi-Naeini, Nicolas Escobar Velasquez, Lilian Golzarri-Arroyo, Sumayyah Ali, Luke R Howard, Stephanie Dickinson, David B Allison

Children’s Nutrition Research Center Staff Publications

No abstract provided.

Sustainability Via Active Garden Education (Sage): The Process Of Incorporating Watering Into Structured Preschool Curriculum, Rebecca E Lee, Anel Arriola, Elizabeth Lorenzo, Erica G Soltero, Jacob Szeszuski

Children’s Nutrition Research Center Staff Publications

School gardens provide rich outdoor learning opportunities for young children. Practical considerations about garden maintenance, in particular, watering, can impeed success. This manuscript chronicles the development of garden maintenance strategies in Sustainability via Active Garden Education (SAGE). SAGE installed raised-bed gardens and provided a complete curriculum focused on increasing children's active time and improving healthy eating habits while fostering garden stewardship. SAGE was implemented by trained research personnel in four early care and education (ECE) facilities in Houston, Texas (SAGE 1, Summer, 2013), one ECE facility in Phoenix, Arizona (SAGE 2, Spring, 2017), and 24 ECE facilities in Phoenix, Arizona …

Adjusting For Covariates Representing Potential Confounders, Mediators, Or Competing Predictors In The Presence Of Measurement Error: Dispelling A Potential Misapprehension And Insights For Optimal Study Design With Nutritional Epidemiology Examples, Roger S Zoh, Diana M Thomas, Carmen D Tekwe, Xiaoxin Yu, Colby J Vorland, Nikhil V Dhurandhar, David M Klurfeld, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: Variables such as dietary intake are measured with error yet frequently used in observational epidemiology. Although this limitation is sometimes noted, these variables are still often modeled as covariates without formal correction or sincere dialogue about measurement unreliability potentially weakening the validity of statistical conclusions. Further, larger sample sizes increase power (bias) to detect spurious correlations. Counterintuitively, recent work suggested a non-monotonic relationship between confounder unreliability and how much controlling for the confounder reduces (or induces) bias when testing for an exposure-outcome association. If true, such non-monotonicity would be especially concerning for applications such as nutrition, where measurement reliability …

Catalyzing Communities Of Research Rigour Champions, Audrey C Brumback, William X Q Ngiam, Dana M Lapato, David B Allison, Christin L Daniels, Michael Dougherty, Haley F Hazlett, Kara L Kerr, Susan Pusek, Naomi Schrag

Children’s Nutrition Research Center Staff Publications

The biomedical sciences must maintain and enhance a research culture that prioritizes rigour and transparency. The US National Institute of Neurological Disorders and Stroke convened a workshop entitled 'Catalyzing Communities of Research Rigor Champions' that brought together a diverse group of leaders in promoting research rigour and transparency (identified as 'rigour champions') to discuss strategies, barriers and resources for catalyzing technical, cultural and educational changes in the biomedical sciences. This article summarizes 2 days of panels and discussions and provides an overview of critical barriers to research rigour, perspectives behind reform initiatives and considerations for stakeholders across science. Additionally, we …

Reducing Food Scarcity: The Benefits Of Urban Farming, S.A. Claudell, Emilio Mejia

Journal of Nonprofit Innovation

Urban farming can enhance the lives of communities and help reduce food scarcity. This paper presents a conceptual prototype of an efficient urban farming community that can be scaled for a single apartment building or an entire community across all global geoeconomics regions, including densely populated cities and rural, developing towns and communities. When deployed in coordination with smart crop choices, local farm support, and efficient transportation then the result isn’t just sustainability, but also increasing fresh produce accessibility, optimizing nutritional value, eliminating the use of ‘forever chemicals’, reducing transportation costs, and fostering global environmental benefits.

Imagine Doris, who is …

Ints6 And The Integrator Phosphatase Module Tune The Efficiency Of Select Premature Transcription Termination Events, Rina Fujiwara, Si-Nan Zhai, Dongming Liang, Aayushi P Shah, Matthew Tracey, Xu-Kai Ma, Christopher J Fields, María Saraí Mendoza-Figueroa, Michele C Meline, Deirdre C Tatomer, Li Yang, Jeremy E Wilusz

Children’s Nutrition Research Center Staff Publications

The metazoan-specific Integrator complex catalyzes 3' end processing of small nuclear RNAs (snRNAs) and premature termination that attenuates the transcription of many protein-coding genes. Integrator has RNA endonuclease and protein phosphatase activities, but it remains unclear if both are required for complex function. Here, we show IntS6 (Integrator subunit 6) over-expression blocks Integrator function at a subset of Drosophila protein-coding genes, although having no effect on snRNAs or attenuation of other loci. Over-expressed IntS6 titrates protein phosphatase 2A (PP2A) subunits, thereby only affecting gene loci where phosphatase activity is necessary for Integrator function. IntS6 functions analogous to a PP2A regulatory …

Leptin Decreases Gluconeogenesis And Gluconeogenic Substrate Availability In Patients With Lipodystrophy, Emmanuel Quaye, Shaji Chacko, Megan Startzell, Rebecca J Brown

Children’s Nutrition Research Center Staff Publications

Context: The effects of leptin, an adipocyte-derived hormone that signals overall energy sufficiency, can only be studied in leptin-deficient conditions. In patients with lipodystrophy, a rare disease and unique model of leptin deficiency, treatment with recombinant leptin (metreleptin) improves glycemia and decreases energy expenditure. We hypothesized that these improvements might be mediated by reduced gluconeogenesis (GNG), an energy-requiring process.

Objective: To determine the effects of metreleptin on GNG and GNG substrates.

Methods: This was a single-arm prospective study of metreleptin administration in 15 patients with lipodystrophy, 9 of whom had data on GNG (NIH, 2013-2018). We analyzed total GNG, insulin-mediated …

Tuftelin1 Drives Experimental Pulmonary Fibrosis Progression By Facilitating Stress Fiber Assembly, Caoyuan Niu, Kai Xu, Yanan Hu, Yanling Jia, Yuexia Yang, Xiaoyue Pan, Ruyan Wan, Hui Lian, Qiwen Wang, Juntang Yang, Yajun Li, Ivan Rosas, Lan Wang, Guoying Yu

Children’s Nutrition Research Center Staff Publications

Background: Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease (ILD) with unknown etiology, characterized by sustained damage repair of epithelial cells and abnormal activation of fibroblasts, the underlying mechanism of the disease remains elusive.

Methods: To evaluate the role of Tuftelin1 (TUFT1) in IPF and elucidate its molecular mechanism. We investigated the level of TUFT1 in the IPF and bleomycin-induced mouse models and explored the influence of TUFT1 deficiency on pulmonary fibrosis. Additionally, we explored the effect of TUFT1 on the cytoskeleton and illustrated the relationship between stress fiber and pulmonary fibrosis.

Results: Our results demonstrated a significant …

How Societal Forces Of Change Are Transforming Youth Physical Activity Promotion In North America, Jacob Szeszulski, Jamie M Faro, Rodney P Joseph, Kevin Lanza, Lucie Lévesque, Courtney M Monroe, Elsa A Pérez-Paredes, Erica G Soltero, Rebecca E Lee

Children’s Nutrition Research Center Staff Publications

Background: Climate change, increasing recognition of institutionalized discrimination, and the COVID-19 pandemic are large-scale, societal events (ie, forces of change) that affect the timing, settings, and modes of youth physical activity. Despite the impact that forces of change have on youth physical activity and physical activity environments, few studies consider how they affect physical activity promotion.

Methods: The authors use 2 established frameworks, the ecological model of physical activity and the youth physical activity timing, how, and setting framework, to highlight changes in physical activity patterns of youth in North America that have resulted from contemporary forces of change.

Results: …

Feasibility Of A Food-Based Diabetes Self-Management Education Intervention For Food Insecure Patients With Type 2 Diabetes: A Convergent Mixed Methods Study, Eliza Short, Debbe Thompson, Douglas Taren, Holly Bryant, Rhonda Gonzalez, Jessi Sheava, Melanie Hingle

Children’s Nutrition Research Center Staff Publications

Objective: To assess the feasibility of a food-based diabetes self-management education and support (DSMES) intervention delivered to persons with type 2 diabetes (T2DM) and food insecurity.

Design: This single arm pre-/post convergent mixed methods study tested the feasibility of a 3-month intervention using food boxes, recipes, DSMES and dietitian visits. Feasibility benchmarks assessed were acceptability (> 50 % participants satisfied), demand (> 50 % used program components) and implementation (75 % adherence, 80 % retention). Assessments included: self-reported food security, health-related quality of life, diabetes self-efficacy, socio-demographic and dietary intake, height, weight, and HbA1c and one in-depth interview with participants …

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 …

Identification Of Exosome Protein Panels As Predictive Biomarkers For Non-Small Cell Lung Cancer, Bin Luo, Zujun Que, Xinyi Lu, Dan Qi, Zhi Qiao, Yun Yang, Fangfang Qian, Yi Jiang, Yan Li, Ronghu Ke, Xiaoyun Shen, Hua Xiao, Hegen Li, Erxi Wu, Jianhui Tian

Children’s Nutrition Research Center Staff Publications

Background: Non-small cell lung cancer (NSCLC) remains a leading cause of cancer-related deaths worldwide, primarily due to its propensity for metastasis. Patients diagnosed with localized primary cancer have higher survival rates than those with metastasis. Thus, it is imperative to discover biomarkers for the early detection of NSCLC and the timely prediction of tumor metastasis to improve patient outcomes.

Methods: Here, we utilized an integrated approach to isolate and characterize plasma exosomes from NSCLC patients as well as healthy individuals. We then conducted proteomics analysis and parallel reaction monitoring to identify and validate the top-ranked proteins of plasma exosomes.

Results: …

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 …

Corrigendum To 'Pressure-Mediated Reflection Spectroscopy Criterion Validity As A Biomarker Of Fruit And Vegetable Intake: A 2-Site Cross-Sectional Study Of 4 Racial Or Ethnic Groups' [J Nutr 2022;152:107-116], Stephanie B Jilcott Pitts, Nancy E Moran, Qiang Wu, Lisa Harnack, Neal E Craft, Neil Hanchard, Ronny Bell, Stacey G Moe, Nevin Johnson, Justice Obasohan, Pamela L Carr-Manthe, Melissa N Laska

Children’s Nutrition Research Center Staff Publications

No abstract provided.

The Potential Weight Loss Benefits Of Tirzepatide: A Double-Edged Sword?, Muhammad Taha Nasim, Ayesha Ali, Muhammad Tabish Nasim

Medical College Documents

No abstract provided.

Mga-Seq: Robust Identification Of Extrachromosomal Dna And Genetic Variants Using Multiple Genetic Abnormality Sequencing, Da Lin, Yanyan Zou, Xinyu Li, Jinyue Wang, Qin Xiao, Xiaochen Gao, Fei Lin, Ningyuan Zhang, Ming Jiao, Yu Guo, Zhaowei Teng, Shiyi Li, Yongchang Wei, Fuling Zhou, Rong Yin, Siheng Zhang, Lingyu Xing, Weize Xu, Xiaofeng Wu, Bing Yang, Ke Xiao, Chengchao Wu, Yingfeng Tao, Xiaoqing Yang, Jing Zhang, Sheng Hu, Shuang Dong, Xiaoyu Li, Shengwei Ye, Zhidan Hong, Yihang Pan, Yuqin Yang, Haixiang Sun, Gang Cao

Children’s Nutrition Research Center Staff Publications

Genomic abnormalities are strongly associated with cancer and infertility. In this study, we develop a simple and efficient method - multiple genetic abnormality sequencing (MGA-Seq) - to simultaneously detect structural variation, copy number variation, single-nucleotide polymorphism, homogeneously staining regions, and extrachromosomal DNA (ecDNA) from a single tube. MGA-Seq directly sequences proximity-ligated genomic fragments, yielding a dataset with concurrent genome three-dimensional and whole-genome sequencing information, enabling approximate localization of genomic structural variations and facilitating breakpoint identification. Additionally, by utilizing MGA-Seq, we map focal amplification and oncogene coamplification, thus facilitating the exploration of ecDNA's transcriptional regulatory function.

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 …

Unreliable Findings Due To Miscalculations And Errors Comment On Nally Et Al The Effectiveness Of School-Based Interventions On Obesity-Related Behaviours In Primary School Children: A Systematic Review And Meta-Analysis Of Randomised Controlled Trials Children 2021, 8, 489, Keara Ginell, Beate Henschel, Lilian Golzarri-Arroyo, Yasaman Jamshidi-Naeini, Andrew W Brown, David B Allison

Children’s Nutrition Research Center Staff Publications

Nally et al. [...].

Using Noninvasive Calibrated Cuff Plethysmography To Observe The Effects Of Cold-Water Immersion On Arterial Compliance, Rita M. Grigorian

Master's Theses

As the prevalence of cardiovascular diseases continues to exponentially grow in populations across the globe, the necessity of determining underlying factors, effective methods of diagnoses, and universally available preventive measures also grows. Early detection of endothelial dysfunction, a proven precursor of cardiovascular diseases, can be extremely impactful in encouraging preventative measures and early intervention before medical conditions become chronic. In recent years, ice plunging, a form of cryotherapy involving full body immersion in cold water, has gained popularity within circles of fitness and health practitioners, gaining the interest of people of all backgrounds. Certain parallels observed between the human physiological …

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 …