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Articles 361 - 390 of 576

Full-Text Articles in Dietetics and Clinical Nutrition

Comparison Of Two Lipid Emulsions On The Incidence Of Parenteral Nutrition Associated Cholestasis In Neonates, Joy Greenberg, Mamta Naik, John Chapman, Allison Davidson, Essam Imseis Jan 2023

Comparison Of Two Lipid Emulsions On The Incidence Of Parenteral Nutrition Associated Cholestasis In Neonates, Joy Greenberg, Mamta Naik, John Chapman, Allison Davidson, Essam Imseis

Faculty, Staff and Student Publications

OBJECTIVE: Lipid emulsion contributes to parenteral nutrition associated cholestasis (PNAC). For decades, soybean oil-based intravenous lipid emulsion (SO-ILE) was the predominant product. Recently, a multicomponent lipid emulsion containing soybean oil, medium-chain triglycerides, olive oil and fish oil (SMOF-ILE) has been used off-label in neonatal care. This study evaluates the incidence of PNAC in neonates who received SMOF-ILE or SO-ILE.

METHODS: This was a retrospective review of neonates who received SMOF-ILE or SO-ILE for at least 14 days. Patients receiving SMOF-ILE were matched based on gestational age (GA) and birth weight to a historical cohort receiving SO-ILE. The primary outcomes were …


Sex-Specific Associations Between Urinary Bisphenols Concentrations During Pregnancy And Problematic Child Behaviors At Age 2 Years, Sarah Dee Geiger, Salma Musaad, Jennifer Hill, Andréa Aguiar, Susan Schantz Jan 2023

Sex-Specific Associations Between Urinary Bisphenols Concentrations During Pregnancy And Problematic Child Behaviors At Age 2 Years, Sarah Dee Geiger, Salma Musaad, Jennifer Hill, Andréa Aguiar, Susan Schantz

Faculty, Staff and Students Publications

Effects of prenatal bisphenol A (BPA) exposure on child behavior are mixed with some reports suggesting increased problematic behaviors in girls (e.g., aggression and emotional reactivity) and in boys (i.e., externalizing behaviors), while other reports suggest decreased problematic behaviors in girls. Little is known about the potential impact of pregnancy bisphenol S (BPS) exposure on child behavior. In a prospective cohort study (n=68), five maternal spot urine samples collected across pregnancy were pooled and analyzed for BPA and BPS. Child behavior at 2 years was assessed using the Child Behavior Checklist (CBCL). Linear regression models were used to assess associations …


Nourishing The Brain On Deep Space Missions: Nutritional Psychiatry In Promoting Resilience, Nihar N Pathare, Flavia Fayet-Moore, Jennifer A Fogarty, Felice N Jacka, Philip Strandwitz, Gary E Strangman, Dorit B Donoviel Jan 2023

Nourishing The Brain On Deep Space Missions: Nutritional Psychiatry In Promoting Resilience, Nihar N Pathare, Flavia Fayet-Moore, Jennifer A Fogarty, Felice N Jacka, Philip Strandwitz, Gary E Strangman, Dorit B Donoviel

Faculty, Staff and Students Publications

The grueling psychological demands of a journey into deep space coupled with ever-increasing distances away from home pose a unique problem: how can we best take advantage of the benefits of fresh foods in a place that has none? Here, we consider the biggest challenges associated with our current spaceflight food system, highlight the importance of supporting optimal brain health on missions into deep space, and discuss evidence about food components that impact brain health. We propose a future food system that leverages the gut microbiota that can be individually tailored to best support the brain and mental health of …


Initial Insights Into The Genetic Variation Associated With Metformin Treatment Failure In Youth With Type 2 Diabetes, Shylaja Srinivasan, Ling Chen, Miriam Udler, Jennifer Todd, Megan M Kelsey, Morey W Haymond, Silva Arslanian, Philip Zeitler, Rose Gubitosi-Klug, Kristen J Nadeau, Katherine Kutney, Neil H White, Josephine H Li, James A Perry, Varinderpal Kaur, Laura Brenner, Josep M Mercader, Adem Dawed, Ewan R Pearson, Sook-Wah Yee, Kathleen M Giacomini, Toni Pollin, Jose C Florez Jan 2023

Initial Insights Into The Genetic Variation Associated With Metformin Treatment Failure In Youth With Type 2 Diabetes, Shylaja Srinivasan, Ling Chen, Miriam Udler, Jennifer Todd, Megan M Kelsey, Morey W Haymond, Silva Arslanian, Philip Zeitler, Rose Gubitosi-Klug, Kristen J Nadeau, Katherine Kutney, Neil H White, Josephine H Li, James A Perry, Varinderpal Kaur, Laura Brenner, Josep M Mercader, Adem Dawed, Ewan R Pearson, Sook-Wah Yee, Kathleen M Giacomini, Toni Pollin, Jose C Florez

Faculty, Staff and Students Publications

Metformin is the first-line treatment for type 2 diabetes (T2D) in youth but with limited sustained glycemic response. To identify common variants associated with metformin response, we used a genome-wide approach in 506 youth from the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) study and examined the relationship between T2D partitioned polygenic scores (pPS), glycemic traits, and metformin response in these youth. Several variants met a suggestive threshold (P < 1 × 10−6), though none including published adult variants reached genome-wide significance. We pursued replication of top nine variants in three cohorts, and rs76195229 in ATRNL1 was associated with worse metformin response in the Metformin Genetics Consortium (n = 7,812), though statistically not being significant after Bonferroni correction (P …


A Conserved Oxalyl-Coenzyme A Decarboxylase In Oxalate Catabolism, Ninghui Cheng, Vincent Paris, Xiaolan Rao, Xiaoqiang Wang, Paul A Nakata Dec 2022

A Conserved Oxalyl-Coenzyme A Decarboxylase In Oxalate Catabolism, Ninghui Cheng, Vincent Paris, Xiaolan Rao, Xiaoqiang Wang, Paul A Nakata

Children’s Nutrition Research Center Staff Publications

The ability to biosynthesize oxalic acid can provide beneficial functions to plants; however, uncontrolled or prolonged exposure to this strong organic acid results in multiple physiological problems. Such problems include a disruption of membrane integrity, mitochondrial function, metal chelation, and free radical formation. Recent work suggests that a CoA-dependent pathway of oxalate catabolism plays a critical role in regulating tissue oxalate concentrations in plants. Although this CoA-dependent pathway of oxalate catabolism is important, large gaps in our knowledge of the enzymes catalyzing each step remain. Evidence that an oxalyl-CoA decarboxylase (OXC) catalyzes the second step in this pathway, accelerating the …


Does Receiving A Sars-Cov-2 Antibody Test Result Change Covid-19 Protective Behaviors? Testing Risk Compensation In Undergraduate Students With A Randomized Controlled Trial, Christina Ludema, Molly S Rosenberg, Jonathan T Macy, Sina Kianersi, Maya Luetke, Chen Chen, Lilian Golzarri-Arroyo, Erin Ables, Kevin Maki, David B Allison Dec 2022

Does Receiving A Sars-Cov-2 Antibody Test Result Change Covid-19 Protective Behaviors? Testing Risk Compensation In Undergraduate Students With A Randomized Controlled Trial, Christina Ludema, Molly S Rosenberg, Jonathan T Macy, Sina Kianersi, Maya Luetke, Chen Chen, Lilian Golzarri-Arroyo, Erin Ables, Kevin Maki, David B Allison

Children’s Nutrition Research Center Staff Publications

Background: Risk compensation, or matching behavior to a perceived level of acceptable risk, can blunt the effectiveness of public health interventions. One area of possible risk compensation during the SARS-CoV-2 pandemic is antibody testing. While antibody tests are imperfect measures of immunity, results may influence risk perception and individual preventive actions. We conducted a randomized control trial to assess whether receiving antibody test results changed SARS-CoV-2 protective behaviors.

Purpose: Assess whether objective information about antibody status, particularly for those who are antibody negative and likely still susceptible to SARS-CoV-2 infection, increases protective behaviors. Secondarily, assess whether a positive antibody test …


Evaluation Of Recombinant Live-Attenuated Respiratory Syncytial Virus (Rsv) Vaccines Rsv/Δns2/Δ1313/I1314l And Rsv/276 In Rsv-Seronegative Children, Coleen K Cunningham, Ruth A Karron, Petronella Muresan, Matthew S Kelly, Elizabeth J Mcfarland, Charlotte Perlowski, Jennifer Libous, Jennifer Oliva, Patrick Jean-Philippe, Jack Moye, Elizabeth Schappell, Emily Barr, Vivian Rexroad, Benjamin Johnston, Ellen G Chadwick, Mikhaela Cielo, Mary Paul, Jaime G Deville, Mariam Aziz, Lijuan Yang, Cindy Luongo, Peter L Collins, Ursula J Buchholz, International Maternal Pediatric Adolescent Aids Clinical Trials (Impaact) 2018 Study Team Dec 2022

Evaluation Of Recombinant Live-Attenuated Respiratory Syncytial Virus (Rsv) Vaccines Rsv/Δns2/Δ1313/I1314l And Rsv/276 In Rsv-Seronegative Children, Coleen K Cunningham, Ruth A Karron, Petronella Muresan, Matthew S Kelly, Elizabeth J Mcfarland, Charlotte Perlowski, Jennifer Libous, Jennifer Oliva, Patrick Jean-Philippe, Jack Moye, Elizabeth Schappell, Emily Barr, Vivian Rexroad, Benjamin Johnston, Ellen G Chadwick, Mikhaela Cielo, Mary Paul, Jaime G Deville, Mariam Aziz, Lijuan Yang, Cindy Luongo, Peter L Collins, Ursula J Buchholz, International Maternal Pediatric Adolescent Aids Clinical Trials (Impaact) 2018 Study Team

Children’s Nutrition Research Center Staff Publications

Background: This United States-based study compared 2 candidate vaccines: RSV/ΔNS2/Δ1313/I1314L, attenuated by NS2 gene-deletion and temperature-sensitivity mutation in the polymerase gene; and RSV/276, attenuated by M2-2 deletion.

Methods: RSV-seronegative children aged 6-24 months received RSV/ΔNS2/Δ1313/I1314L (106 plaque-forming units [PFU]), RSV/276 (105 PFU), or placebo intranasally. Participants were monitored for vaccine shedding, reactogenicity, and RSV serum antibodies, and followed over the subsequent RSV season.

Results: Enrollment occurred September 2017 to October 2019. During 28 days postinoculation, upper respiratory illness and/or fever occurred in 64% of RSV/ΔNS2/Δ1313/I1314L, 84% of RSV/276, and 58% of placebo recipients. Symptoms were generally mild. Cough was more …


Soy Isoflavones Decrease Fibroglandular Breast Tissue Measured By Magnetic Resonance Imaging In Premenopausal Women: A 2-Year Randomized Double-Blind Placebo Controlled Clinical Trial, Lee-Jane W Lu, Nai-Wei Chen, Donald G Brunder, Fatima Nayeem, Manubai Nagamani, Thomas K Nishino, Karl E Anderson, Tuenchit Khamapirad Dec 2022

Soy Isoflavones Decrease Fibroglandular Breast Tissue Measured By Magnetic Resonance Imaging In Premenopausal Women: A 2-Year Randomized Double-Blind Placebo Controlled Clinical Trial, Lee-Jane W Lu, Nai-Wei Chen, Donald G Brunder, Fatima Nayeem, Manubai Nagamani, Thomas K Nishino, Karl E Anderson, Tuenchit Khamapirad

Faculty, Staff and Student Publications

BACKGROUND & AIMS: Populations consuming soy have reduced risk for breast cancer, but the mechanisms are unclear. We tested the hypothesis that soy isoflavones, which have ovarian hormone-like effects, can reduce fibroglandular breast tissue (FGBT, 'breast density'), a strong risk marker for breast cancer.

METHODS: Premenopausal women (age 30-42 years) were randomized to consume isoflavones (136.6 mg as aglycone equivalents, n = 99) or placebo (n = 98) for 5 days per week up to 2 years, and changes in breast composition measured by magnetic resonance imaging at baseline and yearly intervals were compared after square root transformation using linear …


Dietary And Complementary Feeding Practices Of Us Infants, 6 To 12 Months: A Narrative Review Of The Federal Nutrition Monitoring Data, Regan L Bailey, Jaime S Stang, Teresa A Davis, Timothy S Naimi, Barbara O Schneeman, Kathryn G Dewey, Sharon M Donovan, Rachel Novotny, Ronald E Kleinman, Elsie M Taveras, Lydia Bazzano, Linda G Snetselaar, Janet De Jesus, Kellie O Casavale, Eve E Stoody, Joseph D Goldman, Alanna J Moshfegh, Donna G Rhodes, Kirsten A Herrick, Kristin Koegel, Cria G Perrine, Tusarebecca Pannucci Dec 2022

Dietary And Complementary Feeding Practices Of Us Infants, 6 To 12 Months: A Narrative Review Of The Federal Nutrition Monitoring Data, Regan L Bailey, Jaime S Stang, Teresa A Davis, Timothy S Naimi, Barbara O Schneeman, Kathryn G Dewey, Sharon M Donovan, Rachel Novotny, Ronald E Kleinman, Elsie M Taveras, Lydia Bazzano, Linda G Snetselaar, Janet De Jesus, Kellie O Casavale, Eve E Stoody, Joseph D Goldman, Alanna J Moshfegh, Donna G Rhodes, Kirsten A Herrick, Kristin Koegel, Cria G Perrine, Tusarebecca Pannucci

Children’s Nutrition Research Center Staff Publications

Complementary foods and beverages (CFBs) are key components of an infant’s diet in the second 6 months of life. This article summarizes nutrition and feeding practices examined by the 2020 Dietary Guidelines Advisory Committees during the CFB life stage. Breastfeeding initiation is high (84%), but exclusive breastfeeding at 6 months (26%) is below the Healthy People 2030 goal (42%). Most infants (51%) are introduced to CFBs sometime before 6 months. The primary mode of feeding (ie, human milk fed [HMF]; infant formula or mixed formula and human milk fed [FMF]) at the initiation of CFBs is associated with the timing …


Randomization, Design And Analysis For Interdependency In Aging Research: No Person Or Mouse Is An Island, Daniella E Chusyd, Steven N Austad, Stephanie L Dickinson, Keisuke Ejima, Gary L Gadbury, Lilian Golzarri-Arroyo, Richard J Holden, Yasaman Jamshidi-Naeini, Doug Landsittel, Tapan Mehta, J Michael Oakes, Arthur H Owora, Greg Pavela, Javier Rojo, Michael W Sandel, Daniel L Smith, Colby J Vorland, Pengcheng Xun, Roger Zoh, David B Allison Dec 2022

Randomization, Design And Analysis For Interdependency In Aging Research: No Person Or Mouse Is An Island, Daniella E Chusyd, Steven N Austad, Stephanie L Dickinson, Keisuke Ejima, Gary L Gadbury, Lilian Golzarri-Arroyo, Richard J Holden, Yasaman Jamshidi-Naeini, Doug Landsittel, Tapan Mehta, J Michael Oakes, Arthur H Owora, Greg Pavela, Javier Rojo, Michael W Sandel, Daniel L Smith, Colby J Vorland, Pengcheng Xun, Roger Zoh, David B Allison

Children’s Nutrition Research Center Staff Publications

Investigators traditionally use randomized designs and corresponding analysis procedures to make causal inferences about the effects of interventions, assuming independence between an individual's outcome and treatment assignment and the outcomes of other individuals in the study. Often, such independence may not hold. We provide examples of interdependency in model organism studies and human trials and group effects in aging research and then discuss methodologic issues and solutions. We group methodologic issues as they pertain to (1) single-stage individually randomized trials; (2) cluster-randomized controlled trials; (3) pseudo-cluster-randomized trials; (4) individually randomized group treatment; and (5) two-stage randomized designs. Although we present …


International Pooled Patient-Level Meta-Analysis Of Ketamine Infusion For Depression: In Search Of Clinical Moderators, Rebecca B Price, Nicholas Kissel, Andrew Baumeister, Rebecca Rohac, Mary L Woody, Elizabeth D Ballard, Carlos A Zarate, William Deakin, Chadi G Abdallah, Adriana Feder, Dennis S Charney, Michael F Grunebaum, J John Mann, Sanjay J Mathew, Bronagh Gallagher, Declan M Mcloughlin, James W Murrough, Suresh Muthukumaraswamy, Rebecca Mcmillan, Rachael Sumner, George Papakostas, Maurizio Fava, Rebecca Hock, Jennifer L Phillips, Pierre Blier, Paulo Shiroma, Peter Šóš, Tung-Ping Su, Mu-Hong Chen, Mikael Tiger, Johan Lundberg, Samuel T Wilkinson, Meredith L Wallace Dec 2022

International Pooled Patient-Level Meta-Analysis Of Ketamine Infusion For Depression: In Search Of Clinical Moderators, Rebecca B Price, Nicholas Kissel, Andrew Baumeister, Rebecca Rohac, Mary L Woody, Elizabeth D Ballard, Carlos A Zarate, William Deakin, Chadi G Abdallah, Adriana Feder, Dennis S Charney, Michael F Grunebaum, J John Mann, Sanjay J Mathew, Bronagh Gallagher, Declan M Mcloughlin, James W Murrough, Suresh Muthukumaraswamy, Rebecca Mcmillan, Rachael Sumner, George Papakostas, Maurizio Fava, Rebecca Hock, Jennifer L Phillips, Pierre Blier, Paulo Shiroma, Peter Šóš, Tung-Ping Su, Mu-Hong Chen, Mikael Tiger, Johan Lundberg, Samuel T Wilkinson, Meredith L Wallace

Children’s Nutrition Research Center Staff Publications

Depression is disabling and highly prevalent. Intravenous (IV) ketamine displays rapid-onset antidepressant properties, but little is known regarding which patients are most likely to benefit, limiting personalized prescriptions. We identified randomized controlled trials of IV ketamine that recruited individuals with a relevant psychiatric diagnosis (e.g., unipolar or bipolar depression; post-traumatic stress disorder), included one or more control arms, did not provide any other study-administered treatment in conjunction with ketamine (although clinically prescribed concurrent treatments were allowable), and assessed outcome using either the Montgomery-Åsberg Depression Rating Scale or the Hamilton Rating Scale for Depression (HRSD-17). Individual patient-level data for at least …


Malnutrition Vaccines For An Imminent Global Food Catastrophe, Peter J Hotez Dec 2022

Malnutrition Vaccines For An Imminent Global Food Catastrophe, Peter J Hotez

Center for Medical Ethics and Health Policy Staff Publications

Together with climate change, both the geopolitical events in Ukraine and social disruptions in supply chains from the COVID-19 pandemic could produce global food shortages or even mass starvation events. Promising new interventions include vaccines to prevent infectious causes of malnutrition or infections disproportionately causing death among the malnourished.


Human Loss-Of-Function Variants In The Serotonin 2c Receptor Associated With Obesity And Maladaptive Behavior, Yang He, Bas Brouwers, Hesong Liu, Hailan Liu, Katherine Lawler, Edson Mendes De Oliveira, Dong-Kee Lee, Yongjie Yang, Aaron R Cox, Julia M Keogh, Elana Henning, Rebecca Bounds, Aliki Perdikari, Vikram Ayinampudi, Chunmei Wang, Meng Yu, Longlong Tu, Nan Zhang, Na Yin, Junying Han, Nikolas A Scarcelli, Zili Yan, Kristine M Conde, Camille Potts, Jonathan C Bean, Mengjie Wang, Sean M Hartig, Lan Liao, Jianming Xu, Inês Barroso, Jacek Mokrosinski, Yong Xu, I Sadaf Farooqi Dec 2022

Human Loss-Of-Function Variants In The Serotonin 2c Receptor Associated With Obesity And Maladaptive Behavior, Yang He, Bas Brouwers, Hesong Liu, Hailan Liu, Katherine Lawler, Edson Mendes De Oliveira, Dong-Kee Lee, Yongjie Yang, Aaron R Cox, Julia M Keogh, Elana Henning, Rebecca Bounds, Aliki Perdikari, Vikram Ayinampudi, Chunmei Wang, Meng Yu, Longlong Tu, Nan Zhang, Na Yin, Junying Han, Nikolas A Scarcelli, Zili Yan, Kristine M Conde, Camille Potts, Jonathan C Bean, Mengjie Wang, Sean M Hartig, Lan Liao, Jianming Xu, Inês Barroso, Jacek Mokrosinski, Yong Xu, I Sadaf Farooqi

Children’s Nutrition Research Center Staff Publications

Serotonin reuptake inhibitors and receptor agonists are used to treat obesity, anxiety and depression. Here we studied the role of the serotonin 2C receptor (5-HT2CR) in weight regulation and behavior. Using exome sequencing of 2,548 people with severe obesity and 1,117 control individuals without obesity, we identified 13 rare variants in the gene encoding 5-HT2CR (HTR2C) in 19 unrelated people (3 males and 16 females). Eleven variants caused a loss of function in HEK293 cells. All people who carried variants had hyperphagia and some degree of maladaptive behavior. Knock-in male mice harboring a human loss-of-function HTR2C variant developed …


Criterion Validity Of A Short Food Frequency Questionnaire For Mexican American Adults, Natalia I Heredia, Deanna M Hoelscher, Vanessa Vega, Belinda M Reininger Nov 2022

Criterion Validity Of A Short Food Frequency Questionnaire For Mexican American Adults, Natalia I Heredia, Deanna M Hoelscher, Vanessa Vega, Belinda M Reininger

Faculty, Staff and Student Publications

Background: The purpose of this study was to validate the School Physical Activity and Nutrition (SPAN) Food Frequency Questionnaire (FFQ) for Mexican American adults (SPAN MAA). Methods: A sample of 100 Mexican American adult participants was drawn from the Cameron County Hispanic Cohort (on the Texas–Mexico border). We used Spearman rank order correlation coefficients, kappa statistics, and percent agreement to compare the SPAN MAA questionnaire to a 24 h recall collected on the same day. Results: Of 100 participants, 93 were included in the analyses. One item showed substantial (>0.6), five items moderate (>0.4), five items fair ( …


Variation In Human Water Turnover Associated With Environmental And Lifestyle Factors, Yosuke Yamada, Xueying Zhang, Mary E T Henderson, Hiroyuki Sagayama, Herman Pontzer, Daiki Watanabe, Tsukasa Yoshida, Misaka Kimura, Philip N Ainslie, Lene F Andersen, Liam J Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G Camps, Graeme L Close, Jamie A Cooper, Richard Cooper, Sai Krupa Das, Lara R Dugas, Simon Eaton, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Lewis G Halsey, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, William E Kraus, Wantanee Kriengsinyos, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Leanne M Redman, John J Reilly, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Luis B Sardinha, Analiza M Silva, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, Jonathan C K Wells, George Wilson, Brian M Wood, Jack A Yanovski, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Klaas R Westerterp, William W Wong, Motohiko Miyachi, Dale A Schoeller, John R Speakman Nov 2022

Variation In Human Water Turnover Associated With Environmental And Lifestyle Factors, Yosuke Yamada, Xueying Zhang, Mary E T Henderson, Hiroyuki Sagayama, Herman Pontzer, Daiki Watanabe, Tsukasa Yoshida, Misaka Kimura, Philip N Ainslie, Lene F Andersen, Liam J Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G Camps, Graeme L Close, Jamie A Cooper, Richard Cooper, Sai Krupa Das, Lara R Dugas, Simon Eaton, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Lewis G Halsey, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, William E Kraus, Wantanee Kriengsinyos, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Leanne M Redman, John J Reilly, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Luis B Sardinha, Analiza M Silva, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, Jonathan C K Wells, George Wilson, Brian M Wood, Jack A Yanovski, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Klaas R Westerterp, William W Wong, Motohiko Miyachi, Dale A Schoeller, John R Speakman

Children’s Nutrition Research Center Staff Publications

Water is essential for survival, but one in three individuals worldwide (2.2 billion people) lack access to safe drinking water. Water intake requirements largely reflect water turnover (WT), the water used by the body each day. We investigated the determinants of human WT in 5,604 people from the ages of 8 days to 96 years from 26 countries using isotope tracking (2H) methods. Age, body size, and composition were significantly associated with WT as were physical activity, athletic status, pregnancy, socioeconomic status, and environmental characteristics (latitude, altitude, air temperature, and humidity). People in countries with low human development index (HDI) …


From Model Organisms To Humans, The Opportunity For More Rigor In Methodologic And Statistical Analysis, Design, And Interpretation Of Aging And Senescence Research, Daniella E Chusyd, Steven N Austad, Andrew W Brown, Xiwei Chen, Stephanie L Dickinson, Keisuke Ejima, David Fluharty, Lilian Golzarri-Arroyo, Richard Holden, Yasaman Jamshidi-Naeini, Doug Landsittel, Stella Lartey, Edward Mannix, Colby J Vorland, David B Allison Nov 2022

From Model Organisms To Humans, The Opportunity For More Rigor In Methodologic And Statistical Analysis, Design, And Interpretation Of Aging And Senescence Research, Daniella E Chusyd, Steven N Austad, Andrew W Brown, Xiwei Chen, Stephanie L Dickinson, Keisuke Ejima, David Fluharty, Lilian Golzarri-Arroyo, Richard Holden, Yasaman Jamshidi-Naeini, Doug Landsittel, Stella Lartey, Edward Mannix, Colby J Vorland, David B Allison

Children’s Nutrition Research Center Staff Publications

This review identifies frequent design and analysis errors in aging and senescence research and discusses best practices in study design, statistical methods, analyses, and interpretation. Recommendations are offered for how to avoid these problems. The following issues are addressed: (a) errors in randomization, (b) errors related to testing within-group instead of between-group differences, (c) failing to account for clustering, (d) failing to consider interference effects, (e) standardizing metrics of effect size, (f) maximum life-span testing, (g) testing for effects beyond the mean, (h) tests for power and sample size, (i) compression of morbidity versus survival curve squaring, and (j) other …


Increased Circulating Cortisol After Vaginal Birth Is Associated With Increased Fgf19 Secretion In Neonatal Pigs, Caitlin Vonderohe, Gregory Guthrie, Barbara Stoll, Valeria Melendez Hebib, Harry Dawson, Douglas Burrin Nov 2022

Increased Circulating Cortisol After Vaginal Birth Is Associated With Increased Fgf19 Secretion In Neonatal Pigs, Caitlin Vonderohe, Gregory Guthrie, Barbara Stoll, Valeria Melendez Hebib, Harry Dawson, Douglas Burrin

Children’s Nutrition Research Center Staff Publications

The influence of birth modality (scheduled cesarean or spontaneous vaginal) on the development of the newborn has been a source of controversy in neonatology. The impact of cesarean vs vaginal birth on the development of bile acid and fibroblast growth factor 19 (FGF19) signaling is unknown. Our aim was to determine the effect of birth modality and gestational age (preterm vs term) on plasma hormone levels, bile acid pool distribution, expression of genes in the bile acid-FXR-FGF19 pathway, and plasma levels of FGF19 at birth and on day 3 of life in neonatal pigs. Four sows underwent cesarean delivery on …


Technology-Based Obesity Prevention Interventions Among Hispanic Adolescents In The United States: Scoping Review, Erica G Soltero, Callie Lopez, Edith Hernandez, Teresia M O'Connor, Debbe Thompson Nov 2022

Technology-Based Obesity Prevention Interventions Among Hispanic Adolescents In The United States: Scoping Review, Erica G Soltero, Callie Lopez, Edith Hernandez, Teresia M O'Connor, Debbe Thompson

Children’s Nutrition Research Center Staff Publications

Background: Given that today's adolescents are digital front-runners, technology-based obesity prevention strategies are age-appropriate for this population. The use of remote and wireless technologies may be suitable for extending the reach and engagement of obesity prevention efforts among high-risk Hispanic youths, as this subgroup is disproportionately affected by barriers that limit participation in traditional, in-person interventions.

Objective: The purpose of this scoping review was to examine the intervention and sample characteristics of technology-based obesity prevention interventions among Hispanic adolescents. We also examined feasibility criteria to assess the acceptability and appropriateness of technology-based strategies among Hispanic youths.

Methods: A comprehensive search …


A Comprehensive Review On Nutraceuticals: Therapy Support And Formulation Challenges, Vivek Puri, Manju Nagpal, Inderbir Singh, Manjinder Singh, Gitika Arora Dhingra, Kampanart Huanbutta, Divya Dheer, Ameya Sharma, Tanikan Sangnim Nov 2022

A Comprehensive Review On Nutraceuticals: Therapy Support And Formulation Challenges, Vivek Puri, Manju Nagpal, Inderbir Singh, Manjinder Singh, Gitika Arora Dhingra, Kampanart Huanbutta, Divya Dheer, Ameya Sharma, Tanikan Sangnim

Faculty, Staff and Student Publications

Nutraceuticals are the nourishing components (hybrid of nutrition and pharmaceuticals) that are biologically active and possess capability for maintaining optimal health and benefits. These products play a significant role in human health care and its endurance, most importantly for the future therapeutic development. Nutraceuticals have received recognition due to their nutritional benefits along with therapeutic effects and safety profile. Nutraceuticals are globally growing in the field of services such as health care promotion, disease reduction, etc. Various drug nutraceutical interactions have also been elaborated with various examples in this review. Several patents on nutraceuticals in agricultural applications and in various …


Haploinsufficiency Of Cyp8b1 Associates With Increased Insulin Sensitivity In Humans, Shiqi Zhong, Raphael Chèvre, David Castaño Mayan, Maria Corlianò, Blake J Cochran, Kai Ping Sem, Theo H Van Dijk, Jianhe Peng, Liang Juin Tan, Siddesh V Hartimath, Boominathan Ramasamy, Peter Cheng, Albert K Groen, Folkert Kuipers, Julian L Goggi, Chester Drum, Rob M Van Dam, Ru San Tan, Kerry-Anne Rye, Michael R Hayden, Ching-Yu Cheng, Shaji Chacko, Jason Flannick, Xueling Sim, Hong Chang Tan, Roshni R Singaraja Nov 2022

Haploinsufficiency Of Cyp8b1 Associates With Increased Insulin Sensitivity In Humans, Shiqi Zhong, Raphael Chèvre, David Castaño Mayan, Maria Corlianò, Blake J Cochran, Kai Ping Sem, Theo H Van Dijk, Jianhe Peng, Liang Juin Tan, Siddesh V Hartimath, Boominathan Ramasamy, Peter Cheng, Albert K Groen, Folkert Kuipers, Julian L Goggi, Chester Drum, Rob M Van Dam, Ru San Tan, Kerry-Anne Rye, Michael R Hayden, Ching-Yu Cheng, Shaji Chacko, Jason Flannick, Xueling Sim, Hong Chang Tan, Roshni R Singaraja

Children’s Nutrition Research Center Staff Publications

BACKGROUND

Cytochrome P450 family 8 subfamily B member 1 (CYP8B1) generates 12α-hydroxylated bile acids (BAs) that are associated with insulin resistance in humans.

METHODS

To determine whether reduced CYP8B1 activity improves insulin sensitivity, we sequenced CYP8B1 in individuals without diabetes and identified carriers of complete loss-of-function (CLOF) mutations utilizing functional assays.

RESULTS

Mutation carriers had lower plasma 12α-hydroxylated/non–12α-hydroxylated BA and cholic acid (CA)/chenodeoxycholic acid (CDCA) ratios compared with age-, sex-, and BMI-matched controls. During insulin clamps, hepatic glucose production was suppressed to a similar magnitude by insulin, but glucose infusion rates to maintain euglycemia were higher in mutation carriers, indicating …


Accounting For The Clustering And Nesting Effects Verifies Most Conclusions Corrected Analysis Of: “Randomized Nutrient Bar Supplementation Improves Exercise-Associated Changes In Plasma Metabolome In Adolescents And Adult Family Members At Cardiometabolic Risk”, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Andrew W Brown, Stephanie Dickinson, David B Allison Oct 2022

Accounting For The Clustering And Nesting Effects Verifies Most Conclusions Corrected Analysis Of: “Randomized Nutrient Bar Supplementation Improves Exercise-Associated Changes In Plasma Metabolome In Adolescents And Adult Family Members At Cardiometabolic Risk”, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Colby J Vorland, Andrew W Brown, Stephanie Dickinson, David B Allison

Children’s Nutrition Research Center Staff Publications

In a published randomized controlled trial, household units were randomized to a nutrient bar supplementation group or a control condition, but the non-independence of observations within the same household (i.e., the clustering effect) was not accounted for in the statistical analyses. Therefore, we reanalyzed the data appropriately by adjusting degrees of freedom using the between-within method, and accounting for household units using linear mixed effect models with random intercepts for family units and subjects nested within family units for each reported outcome. Results from this reanalysis showed that ignoring the clustering and nesting effects in the original analyses had resulted …


The Family Level Assessment Of Screen Use-Mobile Approach: Development Of An Approach To Measure Children's Mobile Device Use, Oriana Perez, Anil Kumar Vadathya, Alicia Beltran, R Matthew Barnett, Olivia Hindera, Tatyana Garza, Salma M Musaad, Tom Baranowski, Sheryl O Hughes, Jason A Mendoza, Ashutosh Sabharwal, Ashok Veeraraghavan, Teresia M O'Connor Oct 2022

The Family Level Assessment Of Screen Use-Mobile Approach: Development Of An Approach To Measure Children's Mobile Device Use, Oriana Perez, Anil Kumar Vadathya, Alicia Beltran, R Matthew Barnett, Olivia Hindera, Tatyana Garza, Salma M Musaad, Tom Baranowski, Sheryl O Hughes, Jason A Mendoza, Ashutosh Sabharwal, Ashok Veeraraghavan, Teresia M O'Connor

Children’s Nutrition Research Center Staff Publications

Background: There is a strong association between increased mobile device use and worse dietary habits, worse sleep outcomes, and poor academic performance in children. Self-report or parent-proxy report of children's screen time has been the most common method of measuring screen time, which may be imprecise or biased.

Objective: The objective of this study was to assess the feasibility of measuring the screen time of children on mobile devices using the Family Level Assessment of Screen Use (FLASH)-mobile approach, an innovative method that leverages the existing features of the Android platform.

Methods: This pilot study consisted of 2 laboratory-based observational …


Diabetes-Related Worries And Coping Among Youth And Young Adults With Type 1 Diabetes, Lindsay Taraban, Rachel Wasserman, Viena T Cao, Sahar S Eshtehardi, Barbara J Anderson, Debbe Thompson, David G Marrero, Marisa E Hilliard Oct 2022

Diabetes-Related Worries And Coping Among Youth And Young Adults With Type 1 Diabetes, Lindsay Taraban, Rachel Wasserman, Viena T Cao, Sahar S Eshtehardi, Barbara J Anderson, Debbe Thompson, David G Marrero, Marisa E Hilliard

Children’s Nutrition Research Center Staff Publications

Objective: Although mood and anxiety symptoms are common in youth with type 1 diabetes (T1D), little research has described their worries across developmental stages or the strategies they use to cope with these worries. This secondary data analysis aimed to describe and characterize common T1D-related worries and coping strategies from middle childhood through young adulthood.

Methods: Twenty-three youth (9 children, 7 adolescents, and 7 young adults) completed semistructured qualitative interviews about health-related quality of life. We coded interview transcripts using thematic analysis to generate common themes of diabetes-related worries and coping strategies.

Results: Participants' worries fell into four major themes: …


Recent Advances In Rapid Detection Techniques For Pesticide Residue: A Review, Lingyuan Xu, A M Abd El-Aty, Jong-Bang Eun, Jae-Han Shim, Jing Zhao, Xingmei Lei, Song Gao, Yongxin She, Fen Jin, Jing Wang, Maojun Jin, Bruce D Hammock Oct 2022

Recent Advances In Rapid Detection Techniques For Pesticide Residue: A Review, Lingyuan Xu, A M Abd El-Aty, Jong-Bang Eun, Jae-Han Shim, Jing Zhao, Xingmei Lei, Song Gao, Yongxin She, Fen Jin, Jing Wang, Maojun Jin, Bruce D Hammock

Faculty, Staff and Student Publications

As an important chemical pollutant affecting the safety of agricultural products, the on-site and efficient detection of pesticide residues has become a global trend and hotspot in research. These methodologies were developed for simplicity, high sensitivity, and multiresidue detection. This review introduces the currently available technologies based on electrochemistry, optical analysis, biotechnology, and some innovative and novel technologies for the rapid detection of pesticide residues, focusing on the characteristics, research status, and application of the most innovative and novel technologies in the past 10 years, and analyzes challenges and future development prospects. The current review could be a good reference …


Sk3 In Pomc Neurons Plays A Sexually Dimorphic Role In Energy And Glucose Homeostasis, Meng Yu, Jonathan C Bean, Hailan Liu, Yang He, Yongjie Yang, Xing Cai, Kaifan Yu, Zhou Pei, Hesong Liu, Longlong Tu, Kristine M Conde, Mengjie Wang, Yongxiang Li, Na Yin, Nan Zhang, Junying Han, Nikolas A Scarcelli, Pingwen Xu, Yanlin He, Yong Xu, Chunmei Wang Oct 2022

Sk3 In Pomc Neurons Plays A Sexually Dimorphic Role In Energy And Glucose Homeostasis, Meng Yu, Jonathan C Bean, Hailan Liu, Yang He, Yongjie Yang, Xing Cai, Kaifan Yu, Zhou Pei, Hesong Liu, Longlong Tu, Kristine M Conde, Mengjie Wang, Yongxiang Li, Na Yin, Nan Zhang, Junying Han, Nikolas A Scarcelli, Pingwen Xu, Yanlin He, Yong Xu, Chunmei Wang

Children’s Nutrition Research Center Staff Publications

Background: Pro-opiomelanocortin (POMC) neurons play a sexually dimorphic role in body weight and glucose balance. However, the mechanisms for the sex differences in POMC neuron functions are not fully understood.

Results: We detected small conductance calcium-activated potassium (SK) current in POMC neurons. Secondary analysis of published single-cell RNA-Seq data showed that POMC neurons abundantly express SK3, one SK channel subunit. To test whether SK3 in POMC neurons regulates POMC neuron functions on energy and glucose homeostasis, we used a Cre-loxP strategy to delete SK3 specifically from mature POMC neurons. POMC-specific deletion of SK3 did not affect body weight in either …


Biogenesis And Regulatory Roles Of Circular Rnas, Li Yang, Jeremy E Wilusz, Ling-Ling Chen Oct 2022

Biogenesis And Regulatory Roles Of Circular Rnas, Li Yang, Jeremy E Wilusz, Ling-Ling Chen

Children’s Nutrition Research Center Staff Publications

Covalently closed, single-stranded circular RNAs can be produced from viral RNA genomes as well as from the processing of cellular housekeeping noncoding RNAs and precursor messenger RNAs. Recent transcriptomic studies have surprisingly uncovered that many protein-coding genes can be subjected to backsplicing, leading to widespread expression of a specific type of circular RNAs (circRNAs) in eukaryotic cells. Here, we discuss experimental strategies used to discover and characterize diverse circRNAs at both the genome and individual gene scales. We further highlight the current understanding of how circRNAs are generated and how the mature transcripts function. Some circRNAs act as noncoding RNAs …


Racial And Ethnic Differences In The Association Of Low-Carbohydrate Diet With Mortality In The Multi-Ethnic Study Of Atherosclerosis, Seung-Won Oh, Alexis C Wood, Seung-Sik Hwang, Matthew Allison Oct 2022

Racial And Ethnic Differences In The Association Of Low-Carbohydrate Diet With Mortality In The Multi-Ethnic Study Of Atherosclerosis, Seung-Won Oh, Alexis C Wood, Seung-Sik Hwang, Matthew Allison

Children’s Nutrition Research Center Staff Publications

Importance: Evidence linking low-carbohydrate diets (LCDs) to mortality is limited among multiethnic populations.

Objective: To evaluate the association between LCDs and mortality by race and ethnicity.

Design, setting, and participants: The Multi-Ethnic Study of Atherosclerosis is a large, population-based prospective cohort study of adults aged 45 to 84 years recruited from 6 US communities. A total of 6109 participants without baseline cardiovascular disease were included in this analysis. Baseline data were collected from July 2000 to August 2002, with follow-up completed by December 2017. The data were analyzed between May 2021 and April 2022.

Exposures: Food frequency questionnaires were used …


Variability In Energy Expenditure Is Much Greater In Males Than Females, Lewis G Halsey, Vincent Careau, Herman Pontzer, Philip N Ainslie, Lene F Andersen, Liam J Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G J A Camps, Graeme L Close, Jamie A Cooper, Sai Krupa Das, Richard Cooper, Lara R Dugas, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, Misaka Kimura, William E Kraus, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, George Wilson, Brian M Wood, Jack Yanovski, Tsukasa Yoshida, Xueying Zhang, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Hiroyuki Sagayama, Dale A Schoeller, Klaas R Westerterp, William W Wong, Yosuke Yamada, John R Speakman Oct 2022

Variability In Energy Expenditure Is Much Greater In Males Than Females, Lewis G Halsey, Vincent Careau, Herman Pontzer, Philip N Ainslie, Lene F Andersen, Liam J Anderson, Lenore Arab, Issad Baddou, Kweku Bedu-Addo, Ellen E Blaak, Stephane Blanc, Alberto G Bonomi, Carlijn V C Bouten, Pascal Bovet, Maciej S Buchowski, Nancy F Butte, Stefan G J A Camps, Graeme L Close, Jamie A Cooper, Sai Krupa Das, Richard Cooper, Lara R Dugas, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Annelies H Goris, Michael Gurven, Catherine Hambly, Asmaa El Hamdouchi, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Kitty P Kempen, Misaka Kimura, William E Kraus, Robert F Kushner, Estelle V Lambert, William R Leonard, Nader Lessan, Corby K Martin, Anine C Medin, Erwin P Meijer, James C Morehen, James P Morton, Marian L Neuhouser, Theresa A Nicklas, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Roberto A Rabinovich, Susan B Racette, David A Raichlen, Eric Ravussin, Rebecca M Reynolds, Susan B Roberts, Albertine J Schuit, Anders M Sjödin, Eric Stice, Samuel S Urlacher, Giulio Valenti, Ludo M Van Etten, Edgar A Van Mil, George Wilson, Brian M Wood, Jack Yanovski, Tsukasa Yoshida, Xueying Zhang, Alexia J Murphy-Alford, Cornelia U Loechl, Amy H Luke, Jennifer Rood, Hiroyuki Sagayama, Dale A Schoeller, Klaas R Westerterp, William W Wong, Yosuke Yamada, John R Speakman

Children’s Nutrition Research Center Staff Publications

In mammals, trait variation is often reported to be greater among males than females. However, to date, mainly only morphological traits have been studied. Energy expenditure represents the metabolic costs of multiple physical, physiological, and behavioral traits. Energy expenditure could exhibit particularly high greater male variation through a cumulative effect if those traits mostly exhibit greater male variation, or a lack of greater male variation if many of them do not. Sex differences in energy expenditure variation have been little explored. We analyzed a large database on energy expenditure in adult humans (1494 males and 3108 females) to investigate whether …


Mixed Random And Nonrandom Allocation, And Group Randomization Have Been Mislabeled And Misanalysed, Necessitating Reanalysis Comment On Conner Et Al Kiwic For Vitality: Results Of A Randomized Placebo-Controlled Trial Testing The Effects Of Kiwifruit Or Vitamin C Tablets On Vitality In Adults With Low Vitamin C Levels, Colby J Vorland, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Andrew W Brown, David B Allison Sep 2022

Mixed Random And Nonrandom Allocation, And Group Randomization Have Been Mislabeled And Misanalysed, Necessitating Reanalysis Comment On Conner Et Al Kiwic For Vitality: Results Of A Randomized Placebo-Controlled Trial Testing The Effects Of Kiwifruit Or Vitamin C Tablets On Vitality In Adults With Low Vitamin C Levels, Colby J Vorland, Yasaman Jamshidi-Naeini, Lilian Golzarri-Arroyo, Andrew W Brown, David B Allison

Children’s Nutrition Research Center Staff Publications

We read the report by Conner and colleagues that tested whether kiwifruit or vitamin C affected measures of vitality [...].


Sequencing Individual Genomes With Recurrent Genomic Disorder Deletions: An Approach To Characterize Genes For Autosomal Recessive Rare Disease Traits, Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R Lupski, Pengfei Liu Sep 2022

Sequencing Individual Genomes With Recurrent Genomic Disorder Deletions: An Approach To Characterize Genes For Autosomal Recessive Rare Disease Traits, Bo Yuan, Katharina V Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R Lupski, Pengfei Liu

Children’s Nutrition Research Center Staff Publications

Background: In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.

Methods: We constructed a genome-wide map for nonallelic homologous recombination (NAHR)-mediated recurrent genomic deletions and used this map to estimate population frequencies of NAHR deletions based on large-scale population cohorts and region-specific studies. We calculated recessive disease carrier burden using high-quality pathogenic or likely pathogenic variants from ClinVar and gnomAD. We developed a NIRD (NAHR deletion Impact to Recessive Disease) score for recessive …