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protein metabolism children

Francesco Bellomo, Anna Signorile, Grazia Tamma, Marianna Ranieri, Francesco Emma, Domenico De Rasmo
Nephropathic cystinosis (NC) is a rare disease caused by mutations in the CTNS gene encoding for cystinosin, a lysosomal transmembrane cystine/H+ symporter, which promotes the efflux of cystine from lysosomes to cytosol. NC is the most frequent cause of Fanconi syndrome (FS) in young children, the molecular basis of which is not well established. Proximal tubular cells have very high metabolic rate due to the active transport of many solutes. Not surprisingly, mitochondrial disorders are often characterized by FS...
March 16, 2018: Cellular and Molecular Life Sciences: CMLS
María José Garcés Hernández, Miguel Klünder, Nayely Garibay Nieto, Juan Carlos López Alvarenga, Jenny Vilchis Gil, Samuel Flores Huerta, Rosa Quispe Siccha, Joselin Hernandez
OBJECTIVE: Visceral adiposity index (VAI) is a mathematical model associated with cardiometabolic risk in adults, but studies on children failed to support this association. Our group has proposed a pediatric VAI model using pediatric ranges, but it has not yet been evaluated and needs further adjustments. The objective of this study was to further adjust the proposed pediatric VAI by age, creating a new pediatric metabolic index (PMI), and assess the correlation of the PMI with insulin resistance indexes and hepatic enzymes...
March 2018: Endocrine Practice
Eleonora Scorletti, Christopher D Byrne
For many years it has been known that high doses of long chain omega-3 fatty acids are beneficial in the treatment of hypertriglyceridaemia. Over the last three decades, there has also been a wealth of in vitro and in vivo data that has accumulated to suggest that long chain omega-3 fatty acid treatment might be beneficial to decrease liver triacylglycerol. Several biological mechanisms have been identified that support this hypothesis; notably, it has been shown that long chain omega-3 fatty acids have a beneficial effect: a) on bioactive metabolites involved in inflammatory pathways, and b) on alteration of nuclear transcription factor activities such as peroxisome proliferator-activated receptors (PPARs), sterol regulatory element-binding protein 1c (SREBP-1c) and carbohydrate-responsive element-binding protein (ChREBP), involved in inflammatory pathways and liver lipid metabolism...
March 12, 2018: Molecular Aspects of Medicine
MingXia Yu, Tao Cao, Dan Yu, Fusheng Huang
Genetic susceptibility to high mercury body burden has been suggested as an autism risk factor in children. Metallothionein III (MT3) is the brain-specific form of the metallothionein family, which plays a key role in metal metabolism. We therefore looked for genetic variations in the MT3 gene that might increase the predisposition to autism. DNA was extracted from 132 autistic children and 132 age and gender-matched unrelated controls. All the samples were analyzed for nine single nucleotide polymorphisms (SNPs) with minor allele frequency > 10% in the MT3 gene...
March 9, 2018: Neurotoxicity Research
S W Yau, B E Harcourt, K-T Kao, E J Alexander, V C Russo, G A Werther, M A Sabin
Insulin-like growth factor binding protein 2 (IGFBP-2) may represent a critical link between body composition and insulin sensitivity. We investigated the relationship between circulating IGFBP-2 levels, body composition, insulin sensitivity, energy intake and physical activity in children with obesity. Children were recruited via the Weight Management Service at the Royal Children's Hospital, Melbourne, as part of the Childhood Overweight BioRepository of Australia (COBRA). Comprehensive anthropometric, biochemical and environmental data were collected and compared to serum IGFBP-2 levels (measured by enzyme-linked immunosorbent assay)...
February 28, 2018: Clinical Obesity
Juliana Araujo Teixeira, Teresa Gontijo Castro, Cameron C Grant, Clare R Wall, Ana Lúcia da Silva Castro, Rossana Pulcineli Vieira Francisco, Sandra Elisabete Vieira, Silvia Regina Dias Medici Saldiva, Dirce Maria Marchioni
BACKGROUND: Women's health during their reproductive years and whilst pregnant has implications for their children's health, both in utero and during childhood. Associations of women's pre-pregnancy dietary patterns (DP) with maternal socio-demographic characteristics and nutrient intake were investigated in ProcriAr cohort study in São Paulo/Brazil, 2012. METHODS: The DPs of 454 women were investigated by principal component factor analysis, using dietary information from a validated 110-item food frequency questionnaire...
March 1, 2018: BMC Public Health
Maria Tsoli, Jie Liu, Laura Franshaw, Han Shen, Cecilia Cheng, MoonSun Jung, Swapna Joshi, Anahid Ehteda, Aaminah Khan, Angel Montero-Carcabosso, Pierre J Dilda, Philip Hogg, David S Ziegler
Diffuse Intrinsic Pontine Gliomas (DIPG) are the most devastating of all pediatric brain tumors. They mostly affect young children and, as there are no effective treatments, almost all patients with DIPG will die of their tumor within 12 months of diagnosis. A key feature of this devastating tumor is its intrinsic resistance to all clinically available therapies. It has been shown that glioma development is associated with metabolic reprogramming, redox state disruption and resistance to apoptotic pathways...
January 26, 2018: Oncotarget
Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J Thornalley, Naila Rabbani
Background: Clinical chemistry tests for autism spectrum disorder (ASD) are currently unavailable. The aim of this study was to explore the diagnostic utility of proteotoxic biomarkers in plasma and urine, plasma protein glycation, oxidation, and nitration adducts, and related glycated, oxidized, and nitrated amino acids (free adducts), for the clinical diagnosis of ASD. Methods: Thirty-eight children with ASD (29 male, 9 female; age 7.6 ± 2.0 years) and 31 age-matched healthy controls (23 males, 8 females; 8...
2018: Molecular Autism
Ping Dong, Jing-Jing Feng, Dong-Yong Yan, Yu-Jing Lyu, Xiu Xu
AIM: To assess nutrient intake, growth and nutritional status of infants with cow's milk allergy (CMA) who follow a therapeutic elimination diet since the first few months of life. METHODS: Sixty infants younger than 4 months of age with challenge-proven CMA and 60 healthy age-matched children were investigated. Anthropometric and body composition (BC) were assessed up to 24 months. Dietary intake was recorded by the parents for 3 consecutive days before visits at 6, 12, 18 and 24 months...
February 20, 2018: Acta Paediatrica
Annelies van Zwol, Neelke B C Oosterloo, Cartijn T de Betue, Ad Bogers, Inge I de Liefde, Nicolaas E P Deutz, Koen F M Joosten
BACKGROUND AND AIMS: Children undergoing cardiac surgery with cardio pulmonary bypass often receive glucocorticoids to reduce the systemic inflammatory response. Glucocorticoids stimulate protein breakdown and increase amino acid availability. We studied whether glucocorticoid treatment influences the availability of amino acids, specifically those involved in the nitric oxide pathway. METHODS: We prospectively studied 49 children with congenital heart disease undergoing cardiac surgery...
February 2018: Clinical Nutrition ESPEN
Judith Hagenbuchner, Sabine Scholl-Buergi, Daniela Karall, Michael J Ausserlechner
Children diagnosed with Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) or Very-Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (VLCADD) frequently present with hypertrophic cardiomyopathy or muscle weakness which is caused by the accumulation of fatty acid metabolites due to inactivating mutations in the mitochondrial trifunctional protein. By analyzing mitochondrial morphology we uncovered that mutations within the HADHA or the ACADVL gene not only affect fatty acid oxidation, but also cause significant changes in the DNM1L/MFN2 ratio leading to the significant accumulation of truncated and punctate mitochondria in contrast to network-like mitochondrial morphology in controls...
February 19, 2018: Scientific Reports
Feng Chen, Yaqiong Jin, Lin Feng, Jie Zhang, Jun Tai, Jin Shi, Yongbo Yu, Jie Lu, Shengcai Wang, Xin Li, Ping Chu, Shujing Han, Shujun Cheng, Yongli Guo, Xin Ni
Background: Papillary thyroid carcinoma (PTC) is one of the most frequent malignancies of the endocrine system, whose mechanisms of pathogenesis, progression and prognosis are still far from being clearly elucidated. Despite an increasing body of evidences highlights ribosome biogenesis regulator homolog (RRS1) as a ribosome biogenesis protein in yeast and plants, little is known about human RRS1 function. Methods: Proliferation, cell cycle and apoptosis of PTC cells were assessed following the knockdown of RRS1 expression though MTT, colony formation assay, and flow cytometry...
2018: Cancer Cell International
Virginia Neyro, Valéry Elie, Yves Médard, Evelyne Jacqz-Aigrain
Growth and maturation changes are mainly responsible for differences in drug pharmacokinetics and pharmacodynamics observed between adults and children, especially neonates. Ontogeny of drug metabolizing enzymes and transporters play an important role in drugs inter-individual pharmacokinetic variability but data are limited in both term and preterm neonates. This study aimed to characterize mRNA expression of the main drug metabolizing enzymes and transport proteins involved in drug disposition, using umbilical cord blood (UCB), according to gender, gestational age and genetic background...
February 13, 2018: Fundamental & Clinical Pharmacology
Anurag Kulshrestha, Shikha Suman
Pediatric adrenocortical carcinoma and adrenocortical adenoma are two rare diseases affecting children. Molecular analyses were performed to identify commonalities in gene expression between the diseases. Differentially expressed genes were identified for the pediatric adrenocortical adenoma and carcinoma tissues, as compared with normal tissues, using the expression dataset. Protein-protein interaction (PPI) networks were constructed for adenoma and carcinoma disease models, and common modules among the diseases were identified...
March 2018: Oncology Letters
Angeline Thomas, Els F M Dobbels, Priscilla E Springer, Christelle Ackermann, Mark F Cotton, Barbara Laughton
The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have HIV infection. Neurodevelopmental delay and encephalopathy are complications of both HIV and GA1. In such a setting it is important to recognise that HIV and GA1 can occur simultaneously. We present an HIV-infected South African male child of Xhosa descent with macrocephaly who commenced combination antiretroviral therapy (ART) at 8 weeks of age in a clinical trial which included a neurodevelopmental sub-study...
February 9, 2018: Metabolic Brain Disease
Markku Voutilainen, Nina Hutri-Kähönen, Päivi Tossavainen, Taina Sipponen, Niina Pitkänen, Tomi Laitinen, Eero Jokinen, Tapani Rönnemaa, Jorma S A Viikari, Olli T Raitakari, Markus Juonala
BACKGROUND AND AIMS: Several genetic and environmental risk factors have been linked to chronic inflammatory bowel disease (IBD). The incidence of IBD has significantly increased in developed countries during last decades. The aim of the present study was to examine childhood risk factors for subsequent IBD diagnosis in a longitudinal cohort study of children and adolescents. METHODS: A Finnish study population consisting of 3551 children and adolescents originally evaluated as part of the Cardiovascular Risk in Young Finns study in 1980...
January 31, 2018: Digestive and Liver Disease
Jadwiga Ambroszkiewicz, Magdalena Chełchowska, Katarzyna Szamotulska, Grażyna Rowicka, Witold Klemarczyk, Małgorzata Strucińska, Joanna Gajewska
Vegetarian diets contain many beneficial properties as well as carry a risk of inadequate intakes of several nutrients important to bone health. The aim of the study was to evaluate serum levels of bone metabolism markers and to analyze the relationships between biochemical bone markers and anthropometric parameters in children on vegetarian and omnivorous diets. The study included 70 prepubertal children on a lacto-ovo-vegetarian diet and 60 omnivorous children. Body composition, bone mineral content (BMC), and bone mineral density (BMD) were assessed by dual-energy X-ray absorptiometry...
February 7, 2018: Nutrients
Vanessa Silva Tavares Rodrigues, Egberto Gaspar Moura, Dayse Nascimento Bernardino, Janaine Cavalcanti Carvalho, Patricia Novaes Soares, Thamara Cherem Peixoto, Nayara Peixoto-Silva, Elaine Oliveira, Patricia Cristina Lisboa
In humans, complementary feeding should be started after 6 months-old; the introduction of any food or water before this time is considered early weaning, which is associated with health problems in adulthood. Cow's milk is a common food introduced to children less than 6 months that has inadequate nutritional composition mainly due to a worse casein: whey protein ratio compared to human milk. We hypothesized that suckling rats fed with cow's milk, rich in bioactive peptides, develop further metabolic dysfunctions...
December 10, 2017: Journal of Nutritional Biochemistry
Yan Xin, Winnie Weng, Bernard P Murray, Eugene J Eisenberg, Jason W Chien, John Ling, Jeffrey A Silverman
Respiratory syncytial virus (RSV) is a major cause of lower respiratory tract infections in young children. Presatovir (previously GS-5806) is a novel, orally administered RSV fusion inhibitor with a favorable safety profile and proven antiviral efficacy in preclinical and clinical studies. In vitro, presatovir is a substrate of the efflux transporters P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP) and hepatic uptake transporters organic anion transporting polypeptide (OATP) 1B1 and OATP1B3 and is slowly metabolized by cytochrome P450 (CYP) 3A4 and CYP3A5...
February 7, 2018: Journal of Clinical Pharmacology
Parisa Montazeri, Martine Vrijheid, David Martinez, Mikel Basterrechea, Ana Fernandez-Somoano, Monica Guxens, Carmen Iñiguez, Aitana Lertxundi, Mario Murcia, Adonina Tardon, Jordi Sunyer, Damaskini Valvi
OBJECTIVE: The objective of this study was to evaluate the associations between maternal metabolic parameters and early childhood BMI trajectories. METHODS: Two thousand two hundred fifty-one children born in Spain between 2004 and 2008 were analyzed. Five BMI z score trajectories from birth to age 4 years were identified by using latent class growth analysis. Multinomial regression assessed the associations between maternal metabolic parameters and offspring's BMI trajectories...
February 5, 2018: Obesity
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