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https://www.readbyqxmd.com/read/29115708/cyp3a5-genotype-and-its-impact-on-vincristine-pharmacokinetics-and-development-of-neuropathy-in-kenyan-children-with-cancer
#1
Jodi L Skiles, ChienWei Chiang, Claire H Li, Steve Martin, Ellen L Smith, Gilbert Olbara, David R Jones, Terry A Vik, Saskia Mostert, Floor Abbink, Gertjan J Kaspers, Lang Li, Festus Njuguna, Tammy J Sajdyk, Jamie L Renbarger
BACKGROUND: Vincristine (VCR) is a critical part of treatment in pediatric malignancies and is associated with dose-dependent peripheral neuropathy (vincristine-induced peripheral neuropathy [VIPN]). Our previous findings show VCR metabolism is regulated by the CYP3A5 gene. Individuals who are low CYP3A5 expressers metabolize VCR slower and experience more severe VIPN as compared to high expressers. Preliminary observations suggest that Caucasians experience more severe VIPN as compared to nonCaucasians...
November 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29095003/-spanish-multicenter-study-hyperammonemia-not-associated-with-inborn-errors-of-metabolism-in-children
#2
Mercedes Gil Campos, Javier Blasco-Alonso, Concepción Sierra Córcoles, José Luis Cuevas Cervera, Luisa Arrabal Fernández, Luis Aldámiz Echevarría, Amaya Belanger
INTRODUCTION: The hyperammonemic encephalopathy induced by causes different from inborn errors of metabolism is a relatively uncommon but severe complication. OBJETIVES: To study the characteristics of a secondary hyperammonemia episode to discern the triggering causes to get to the diagnosis, and the development in the therapeutic intervention. METHODS: A multicenter retrospective study of children with hyperammonemia unrelated to inborn errors of metabolism, conducted in Spanish hospitals...
July 28, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29089407/growth-and-final-height-among-children-with-phenylketonuria
#3
MULTICENTER STUDY
Alena G Thiele, Ruth Gausche, Cornelia Lindenberg, Christoph Beger, Maria Arelin, Carmen Rohde, Ulrike Mütze, Johannes F Weigel, Klaus Mohnike, Christoph Baerwald, Markus Scholz, Wieland Kiess, Roland Pfäffle, Skadi Beblo
BACKGROUND AND OBJECTIVES: Growth is an important criterion to evaluate health in childhood and adolescence, especially in patients depending on special dietary treatment. Phenylketonuria (PKU) is the most common inherited disease of amino acid metabolism. Patients with PKU depend on a special phenylalanine-restricted diet, low in natural protein. The study aimed to evaluate growth, growth rate, and target height in 224 patients with PKU. METHODS: Retrospective, longitudinal analysis of standardized, yearly measurements of height, weight, and calculated growth rate (SD score [SDS]) of patients with PKU aged 0 to 18 years were conducted by using the national computerized CrescNet database...
November 2017: Pediatrics
https://www.readbyqxmd.com/read/29081768/diet-environments-and-gut-microbiota-a-preliminary-investigation-in-children-living-in-rural-and-urban-burkina-faso-and-italy
#4
Carlotta De Filippo, Monica Di Paola, Matteo Ramazzotti, Davide Albanese, Giuseppe Pieraccini, Elena Banci, Franco Miglietta, Duccio Cavalieri, Paolo Lionetti
Diet is one of the main factors that affects the composition of gut microbiota. When people move from a rural environment to urban areas, and experience improved socio-economic conditions, they are often exposed to a "globalized" Western type diet. Here, we present preliminary observations on the metagenomic scale of microbial changes in small groups of African children belonging to the same ethnicity and living in different environments, compared to children living on the urban area of Florence (Italy). We analyzed dietary habits and, by pyrosequencing of the 16S rRNA gene, gut microbiota profiles from fecal samples of children living in a rural village of Burkina Faso (n = 11), of two groups of children living in different urban settings (Nanoro town, n = 8; Ouagadougou, the capital city, n = 5) and of a group of Italian children (n = 13)...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29075622/autistic-siblings-with-novel-mutations-in-two-different-genes-insight-for-genetic-workups-of-autistic-siblings-and-connection-to-mitochondrial-dysfunction
#5
Barrett J Burger, Shannon Rose, Sirish C Bennuri, Pritmohinder S Gill, Marie L Tippett, Leanna Delhey, Stepan Melnyk, Richard E Frye
The prevalence of autism spectrum disorder (ASD) is high, yet the etiology of this disorder is still uncertain. Advancements in genetic analysis have provided the ability to identify potential genetic changes that may contribute to ASD. Interestingly, several genetic syndromes have been linked to metabolic dysfunction, suggesting an avenue for treatment. In this case study, we report siblings with ASD who had similar initial phenotypic presentations. Whole exome sequencing (WES) revealed a novel c.795delT mutation in the WDR45 gene affecting the girl, which was consistent with her eventual progression to a Rett-like syndrome phenotype including seizures along with a stereotypical cyclic breathing pattern...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29043999/study-of-global-dna-methylation-in-monozygotic-twins-with-cerebral-palsy
#6
Yuxiao Yuan
The objective of this paper is to study the global DNA Methylation in monozygotic (MZ) twins with cerebral palsy. Two pairs of twins (a cerebral palsy children, a normal child) admitted to the First Affiliated Hospital of Zhengzhou University were selected as subjects. The phenol-chloroform method was used to extract DNA from venous blood and micro satellite DNA genotyping technique was used to identify the eggs of the twins. DNA methylation fragments were enriched by MBD affinity column chromatography, followed by Solexa sequencing and bioinformatics analysis...
July 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29043237/hepcidin-and-iron-parameters-in-children-with-anemia-of-chronic-disease-and-iron-deficiency-anemia
#7
Gunjan Mahajan, Sunita Sharma, Jagdish Chandra, Anita Nangia
BACKGROUND: Anemia of chronic disease (ACD) and iron deficiency anemia (IDA) are the two most prevalent forms of anemia having interrelated characteristics. Hepcidin, a newly introduced biomarker for assessment of iron status, is a homeostatic regulator of iron metabolism. We investigated the role of hepcidin and other conventional iron parameters to assess iron status among children with ACD and IDA. We also identified children with ACD who developed iron deficiency (ID). METHODS: The study was undertaken in anemic children with 30 cases each of ACD and IDA along with 30 age and sex-matched controls...
September 2017: Blood Research
https://www.readbyqxmd.com/read/29042959/diagnosis-of-cobalamin-c-deficiency-with-renal-abnormality-from-onset-in-a-chinese-child-by-next-generation-sequencing-a-case-report
#8
Qiuxia Chen, Huaying Bao, Hongmei Wu, Sanlong Zhao, Songming Huang, Fei Zhao
The aim of the present study was to present the diagnosis and treatment course of a patient with cobalamin C deficiency (cblC) hospitalized with renal function abnormality from the onset. A female, 7-year-old patient who presented with a cough and progressive dyspnea for 1 day was admitted to the Children's Hospital of Nanjing Medical University (Nanjing, China). A routine clinical examination was performed, including physical examination, routine blood and urine tests, blood gas analysis, computed tomography scans of the head, chest and abdomen, electrocardiogram, echocardiography and abdominal ultrasonography...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29040815/the-role-of-folic-acid-and-selenium-against-oxidative-ethanol-damage-in-early-life-programming-a-review
#9
Mª Luisa Ojeda Murillo, Fatima Nogales Bueno, Mª Luisa Murillo Taravillo, Olimpia Carreras Sánchez
Several disorders in children, called Fetal Alcohol Spectrum Disorders (FASD), occur as result of alcohol consumption during pregnancy and lactation. They appear, at least in part, to be related to the oxidative stress that this drug generates. Ethanol metabolism generates reactive oxygen species and causes a depletion of the antioxidant molecule glutathione (GSH) leading to oxidative stress and lipid and protein damage which are related to growth retardation and neurotoxicity, increasing the incidence of FASD...
October 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29037825/vitamin-d-prevents-lipid-accumulation-in-murine-muscle-through-regulation-of-ppar%C3%AE-and-perilipin-2-expression
#10
Jiarong Li, Milton Mihalcioiu, Lifeng Li, Mahvash Zakikhani, Anne Camirand, Richard Kremer
Vitamin D plays an important role in regulation of skeletal muscle tone and contraction. Serum vitamin D status is linked to muscle power and force in adolescent girls, and vitamin D deficiency is associated with myopathies in children and poorer physical performance in the elderly. We previously reported that vitamin D deficiency is linked to a significant increase in muscle fatty infiltration in healthy young women, and studies in patients with neuromuscular disorders also associate muscle weakening and lipid content...
October 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29034175/refining-low-protein-modular-feeds-for-children-on-low-protein-tube-feeds-with-organic-acidaemias
#11
A Daly, S Evans, C Ashmore, S Chahal, S Santra, A MacDonald
Children with inherited metabolic disorders (IMD) who are dependent on tube feeding and require a protein restriction are commonly fed by 'modular tube feeds' consisting of several ingredients. A longitudinal, prospective two-phase study, conducted over 18 months assessed the long-term efficacy of a pre-measured protein-free composite feed. This was specifically designed to meet the non-protein nutritional requirements of children (aged over 1 year) with organic acidaemias on low protein enteral feeds and to be used as a supplement with an enteral feeding protein source...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29030616/maternal-consumption-of-fish-oil-programs-reduced-adiposity-in-broiler-chicks
#12
Ronique C Beckford, Sarah J Howard, Suchita Das, Abigail T Farmer, Shawn R Campagna, Jiali Yu, Robert L Hettich, Jeanna L Wilson, Brynn H Voy
Maternal intake of eicosapentaenoic acid (EPA; 20:5 n-3) and docosahexaenoic acid (22:6 n-3) has been associated with reduced adiposity in children, suggesting the possibility to program adipose development through dietary fatty acids before birth. This study determined if enriching the maternal diet in fish oil, the primary source of EPA and DHA, affected adipose development in offspring. Broiler chickens were used because they are obesity-prone, and because fatty acids provided to the embryo can be manipulated through the hen diet...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29022752/nutritional-characteristics-of-the-diets-of-child-and-adolescent-cancer-survivors
#13
Julia Ferrari Carneiro Teixeira, Priscila Dos Santos Maia-Lemos, Luciana Pellegrini Pisani
PURPOSE: Diseases associated with prior treatment, such as obesity, have been described in cancer survivors. Recent studies have shown that current estimates of overweight do not differ from that in the general population, suggesting the influence of environmental factors, such as dietary intake. In this context, there is increasing interest in the examination of health behaviors that may modify and reduce the risk of overweight and obesity. This study aimed to evaluate the characteristics of dietary intake among child cancer survivors living in a developing country...
October 12, 2017: Journal of Adolescent and Young Adult Oncology
https://www.readbyqxmd.com/read/28990525/a-human-proximal-tubular-epithelial-cell-model-to-explore-a-knowledge-gap-on-neonatal-drug-disposition
#14
Ahmed Reda, Anke Raaijmakers, Saskia van Dorst, Charlotte G G M Pauwels, Karel Allegaert, Mohamed A Elmonem, Rosalinde Masereeuw, Lambertus van den Heuvel, Elena Levtchenko, Fanny Oliveira Arcolino
BACKGROUND: Finding the right drug-dosage for neonates is still a challenge. Until now, neonatal doses are extrapolated from adults and children doses. However, there are differences between neonatal and adult kidney physiology that should be considered, especially when it comes to drug metabolism and/or transport. Studying renal drug disposition in neonates is limited by the lack of reliable human cell models. OBJECTIVE: To illustrate the feasibility of developing an in vitro model for neonatal proximal tubule epithelial cells (nPTECs) to study renal drug disposition at this age...
October 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28981396/cancer-specific-energy-metabolism-in-rhabdomyosarcoma-cells-is-regulated-by-microrna
#15
Nobuhiko Sugito, Kohei Taniguchi, Yuki Kuranaga, Maki Ohishi, Tomoyoshi Soga, Yuko Ito, Mitsuru Miyachi, Ken Kikuchi, Hajime Hosoi, Yukihiro Akao
Rhabdomyosarcoma (RMS) is a soft tissue sarcoma and is most frequently found in children. In RMS, there are two major subtypes, that is, embryonal RMS and alveolar RMS (ARMS). ARMS has exclusively the worse prognosis and is caused by formation of the chimeric PAX3-FOXO1 gene. Regarding cancer, the Warburg effect is known as a feature of cancer-specific metabolism. Polypyrimidine tract-binding protein 1 (PTBP1), a splicer of pyruvate kinase muscle (PKM) mRNA, is a positive regulator of cancer-specific energy metabolism...
October 5, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28975627/meat-consumption-during-pregnancy-and-substance-misuse-among-adolescent-offspring-stratification-of-tcn2-genetic-variants
#16
Joseph R Hibbeln, John Paul SanGiovanni, Jean Golding, Pauline M Emmett, Kate Northstone, John M Davis, Marc Schuckit, Jon Heron
BACKGROUND: Reducing meat consumption is often advised; however, inadvertent nutritional deficiencies during pregnancy may result in residual neurodevelopmental harms to offspring. This study assessed possible effects of maternal diets in pregnancy on adverse substance use among adolescent offspring. METHODS: Pregnant women and their 13-year-old offspring taking part in a prospective birth cohort study, the Avon Longitudinal Study of Parents and Children (ALSPAC), provided Food Frequency Questionnaire data from which dietary patterns were derived using principal components analysis...
November 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28960774/the-bdnf-val66met-polymorphism-is-associated-with-lower-bmi-lower-postprandial-glucose-levels-and-elevated-carbohydrate-intake-in-children-and-adolescents
#17
A Kalenda, K Landgraf, D Löffler, P Kovacs, W Kiess, A Körner
BACKGROUND: The amino acid-changing exonic variant rs6265 (Val66Met polymorphism) in the brain-derived neurotrophic factor (BDNF) has been linked to obesity in several genotype-phenotype association studies. OBJECTIVE: To identify metabolic factors by which this effect might be conveyed, we aimed to investigate its correlation with (i) obesity, (ii) metabolic parameters, (iii) serum levels of BDNF and (iv) measures of energy intake in children and adolescents. METHODS: We genotyped the variant in 2131 subjects (age 6-18 years) and checked for an association with obesity...
September 27, 2017: Pediatric Obesity
https://www.readbyqxmd.com/read/28960038/prevalence-and-clinical-characteristics-of-metabolically-healthy-obesity-in-korean-children-and-adolescents-data-from-the-korea-national-health-and-nutrition-examination-survey
#18
Da Young Yoon, Young Ah Lee, Jieun Lee, Jae Hyun Kim, Choong Ho Shin, Sei Won Yang
Metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) are differentiated by the presence of cardiometabolic risk factors (CMRFs) and insulin resistance (IR). This study aimed to evaluate the prevalence and clinical characteristics of MHO in Korean children and adolescents and to investigate the anthropometric, laboratory, and lifestyle predictors of MHO. This study included data from 530 obese subjects, aged 10-19 years, obtained from the Fourth Korea National Health and Nutrition Examination Survey...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28942965/biallelic-c1qbp-mutations-cause-severe-neonatal-childhood-or-later-onset-cardiomyopathy-associated-with-combined-respiratory-chain-deficiencies
#19
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28927102/mining-the-glioma-susceptibility-genes-in-children-from-gene-expression-profiles-and-a-methylation-database
#20
Yongqiang Xi, Wanzhong Tang, Song Yang, Maolei Li, Yuchao He, Xianhua Fu
Glioma is the most common type of primary brain tumor, which is associated with a poor prognosis due to its aggressive growth behavior and highly invasive nature. Research regarding glioma pathogenesis is expected to provide novel methods of adjuvant therapy for the treatment of glioma. The use of bioinformatics to identify candidate genes is commonly used to understand the genetic basis of disease. The present study used bioinformatics to mine the disease-related genes using gene expression profiles (GSE50021) and dual-channel DNA methylation data (GSE50022)...
September 2017: Oncology Letters
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