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https://www.readbyqxmd.com/read/28407145/gepia-a-web-server-for-cancer-and-normal-gene-expression-profiling-and-interactive-analyses
#1
Zefang Tang, Chenwei Li, Boxi Kang, Ge Gao, Cheng Li, Zemin Zhang
Tremendous amount of RNA sequencing data have been produced by large consortium projects such as TCGA and GTEx, creating new opportunities for data mining and deeper understanding of gene functions. While certain existing web servers are valuable and widely used, many expression analysis functions needed by experimental biologists are still not adequately addressed by these tools. We introduce GEPIA (Gene Expression Profiling Interactive Analysis), a web-based tool to deliver fast and customizable functionalities based on TCGA and GTEx data...
April 12, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28402322/nutritional-status-in-patients-with-phenylketonuria-using-glycomacropeptide-as-their-major-protein-source
#2
A Pinto, M F Almeida, P C Ramos, S Rocha, A Guimas, R Ribeiro, E Martins, A Bandeira, A MacDonald, J C Rocha
BACKGROUND/OBJECTIVES: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP. SUBJECTS/METHODS: Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews...
April 12, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28400091/metabolomic-changes-demonstrate-reduced-bioavailability-of-tyrosine-and-altered-metabolism-of-tryptophan-via-the-kynurenine-pathway-with-ingestion-of-medical-foods-in-phenylketonuria
#3
Denise M Ney, Sangita G Murali, Bridget M Stroup, Nivedita Nair, Emily A Sawin, Fran Rohr, Harvey L Levy
BACKGROUND: Deficiencies of the monoamine neurotransmitters, such as dopamine synthesized from Tyr and serotonin synthesized from Trp, are of concern in PKU. Our objective was to utilize metabolomics analysis to assess monoamine metabolites in subjects with PKU consuming amino acid medical foods (AA-MF) and glycomacropeptide medical foods (GMP-MF). METHODS: Subjects with PKU consumed a low-Phe diet combined with AA-MF or GMP-MF for 3weeks each in a randomized, controlled, crossover study...
April 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28399504/source-apportionment-of-pb-containing-particles-in-beijing-during-january-2013
#4
Jing Cai, Jiandong Wang, Yanjun Zhang, Hezhong Tian, Chuanyong Zhu, Deborah S Gross, Min Hu, Jiming Hao, Kebin He, Shuxiao Wang, Mei Zheng
Although leaded gasoline has been banned in some megacities in China since 1997 and nationally since 2000, atmospheric lead (Pb) pollution is still an important issue in China, as its concentration in megacities such as Beijing remains high. To measure the Pb concentration and identify sources of Pb-containing particles in Beijing during January 2013, both an online Single Particle Aerosol Mass Spectrometer (SPAMS) and offline filters analyzed by inductively coupled plasma-mass spectrometer (ICP-MS) were used at a monitoring site on the Peking University (PKU) campus...
April 8, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28389235/dna-methylated-alleles-of-the-phenylalanine-hydroxylase-promoter-remodeled-at-elevated-phenylalanine-levels-in-newborns-with-hyperphenylalaninemia
#5
Chike Bellarmine Item, Somayeh Farhadi, Andrea Schanzer, Susanne Greber-Platzer
OBJECTIVES: Although high phenylalanine (phe) exposure has been shown to influence the DNA methylation status of leukocytes in hyperphenylalaninemia (HPA), the potential of DNA methylation changes as a biomarker of pretreatment high phe exposure in diet free newborns with HPA has not been explored. We therefore investigated the DNA methylation pattern of the phenylalanine hydroxylase (PAH) gene promoter at different phe levels, and the possibility of DNA methylation pattern changes being a biomarker of high phe exposure in diet free newborns with HPA...
April 4, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#6
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28382600/treatment-adherence-and-psychological-wellbeing-in-maternal-carers-of-children-with-phenylketonuria-pku
#7
Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski
Phenylketonuria (PKU), a rare metabolic disorder, causes cognitive impairment unless treated with a strict, protein-restricted diet, but few studies have examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and child dependency. Treatment adherence was assessed using the proportion of blood phenylalanine concentrations within target range in the preceding year...
April 6, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28366684/erratum-to-validation-of-amino-acids-measurement-in-dried-blood-spot-by-fia-ms-ms-for-pku-management-clin-biochem-49-2016-1047-1050
#8
C Bruno, D Dufour-Rainfray, F Patin, P Vourc'h, D Guilloteau, F Maillot, F Labarthe, M Tardieu, C R Andres, P Emond, H Blasco
No abstract text is available yet for this article.
March 30, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28343264/modulating-the-ph-activity-profiles-of-phenylalanine-ammonia-lyase-from-anabaena-variabilis-by-modification-of-center-near-surface-residues
#9
Fan Zhang, Nan Huang, Li Zhou, Wenjing Cui, Zhongmei Liu, Longbao Zhu, Yi Liu, Zhemin Zhou
Phenylalanine ammonia lyase from Anabaena variabilis (Av-PAL) is a candidate for the treatment of phenylketonuria (PKU). However, Av-PAL shows its optimal pH at 8.5 and maintains only 70% of its highest activity when pH decreases to 7.3-7.4 (the condition of human plasma). The objective of the study was to shift its optimal pH by mutating surface amino acid residues which interact with the general base Tyr78. Based on the crystal structure and the online program GETAREA, we selected five sites: Asn69, Glu72, Glu75, Asn89, and Val90...
March 25, 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/28334709/micronutrients-essential-fatty-acids-and-bone-health-in-phenylketonuria
#10
Serwet Demirdas, Francjan J van Spronsen, Carla E M Hollak, J Hanneke van der Lee, Peter H Bisschop, Fred M Vaz, Nienke M Ter Horst, M Estela Rubio-Gozalbo, Annet M Bosch
INTRODUCTION: In phenylketonuria (PKU), a natural protein-restricted dietary treatment prevents severe cognitive impairment. Nutrient deficiencies may occur due to strict diet. This study is aimed at evaluating the dietary intake and blood concentrations of micronutrients and essential fatty acids (FA), bone mineral density (BMD) and fracture history in patients on long-term dietary treatment. METHODS: Sixty early diagnosed Dutch patients (aged 1-39 years) were included in a multi-center cross-sectional study...
2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/28334366/vcnet-vector-based-gene-co-expression-network-construction-and-its-application-to-rna-seq-data
#11
Zengmiao Wang, Huaying Fang, Nelson Leung-Sang Tang, Minghua Deng
Motivation: Building gene co-expression network (GCN) from gene expression data is an important field of bioinformatic research. Nowadays, RNA-seq data provides high dimensional information to quantify gene expressions in term of read counts for individual exons of genes. Such an increase in the dimension of expression data during the transition from microarray to RNA-seq era made many previous co-expression analysis algorithms based on simple univariate correlation no longer applicable...
March 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28322663/factors-affecting-korean-neonatal-infant-pain-care
#12
Haeyoung Min, Catherine Vincent, Alicia K Matthews, Linda L McCreary, Chang G Park, Margot Latimer
This study aimed to translate three English-language instruments-Pain Knowledge and Use (PKU), Collaboration and Satisfaction About Care Decisions (CSACD), and Environmental Complexity Scale (ECS)-into Korean and evaluate the equivalence of the instrument versions. Three Korean translators and two senior reviewers translated the instruments' 56 items using a committee approach. Eight Korean experts evaluated the cultural relevance of the translated instruments using a content validity index (CVI), and 12 Korean neonatal nurses were interviewed to assess their understanding of items...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28318688/impact-of-phenylketonuria-type-meal-on-appetite-thermic-effect-of-feeding-and-postprandial-fat-oxidation
#13
Hani Alfheeaid, Konstantinos Gerasimidis, Ana-Maria Năstase, Mie Elhauge, Barbara Cochrane, Dalia Malkova
BACKGROUND: Dietary management of phenylketonuria (PKU) requires the replacement of natural protein-containing foods with special low protein foods. The effect of a PKU type diet on factors contributing to energy balance requires investigation. OBJECTIVE: To investigate the impact of a PKU type meal on appetite ratings, gut appetite hormones, thermic effect of feeding (TEF) and fat oxidation. METHODS: Twenty-three healthy adults (mean ± SD age: 24...
March 8, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28318283/cognitive-profile-and-mental-health-in-adult-phenylketonuria-a-pku-cobeso-study
#14
Rianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, Jaap J van der Meere, Amanda M Legemaat, Annet M Bosch, Carla E M Hollak, M Estela Rubio-Gozalbo, Martijn C G J Brouwers, Floris C Hofstede, Maaike C de Vries, Mirian C H Janssen, Ans T van der Ploeg, Janneke G Langendonk, Francjan J van Spronsen
OBJECTIVE: Despite early dietary treatment phenylketonuria patients have lower IQ and poorer executive functions compared to healthy controls. Cognitive problems in phenylketonuria have often been associated with phenylalanine levels. The present study examined the cognitive profile and mental health in adult phenylketonuria, in relation to phenylalanine levels and tetrahydrobiopterin treatment. METHOD: Fifty-seven early treated adult patients with phenylketonuria and 57 healthy matched controls (18-40 years) performed IQ subtests and executive function tests from the Amsterdam Neuropsychological Tasks...
March 20, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28302355/effects-of-short-term-calcium-supplementation-in-children-and-adolescents-with-phenylketonuria
#15
Nancy Y Y Tanaka, Marlene F Turcato, Carolina F Nicoletti, Carla B Nonino, Luciana D Martins, Odilon Iannetta, Carlos Tostes Guerreiro, Gisele G Santos, Júlio S Marchini
Reduction of bone mineral density and the risk of osteopenia have been reported to occur in phenylketonuria (PKU) patients. This study aimed to evaluate the short-term effects of calcium supplementation in phenylketonuric children and adolescents. The study included 18 patients with PKU aged 5-18 yr (61% male) under clinical and nutritional treatment. Evaluation of food intake, anthropometry, and biochemical and phalangeal quantitative ultrasound were performed before (phase 1) and after (phase 2) calcium supplementation (1000 mg/d) for 34 d...
March 13, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28293905/hyperphenylalaninemia-correlated-with-global-decrease-of-antioxidant-genes-expression-in-white-blood-cells-of-adult-patients-with-phenylketonuria
#16
Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond, Catherine Antar, Valérie Gissot, Olivier Herault, François Maillot
BACKGROUND: Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia. METHODS: We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls...
March 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28285739/neuropsychiatric-comorbidities-in-adults-with-phenylketonuria-a-retrospective-cohort-study
#17
Deborah A Bilder, Joyce A Kobori, Jessica L Cohen-Pfeffer, Erin M Johnson, Elaina R Jurecki, Mitzie L Grant
Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans...
March 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28284394/impaired-neurotransmission-in-early-treated-phenylketonuria-patients
#18
María Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. These deficits are related to executive dysfunctions and social-emotional problems, respectively, in early treated patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28282402/formulation-and-pegylation-optimization-of-the-therapeutic-pegylated-phenylalanine-ammonia-lyase-for-the-treatment-of-phenylketonuria
#19
Sean M Bell, Dan J Wendt, Yanhong Zhang, Timothy W Taylor, Shinong Long, Laurie Tsuruda, Bin Zhao, Phillip Laipis, Paul A Fitzpatrick
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe). Due to many obstacles, PAH enzyme replacement therapy is not currently an option. Treatment of PKU with an alternative enzyme, phenylalanine ammonia lyase (PAL), was first proposed in the 1970s. However, issues regarding immunogenicity, enzyme production and mode of delivery needed to be overcome. Through the evaluation of PAL enzymes from multiple species, three potential PAL enzymes from yeast and cyanobacteria were chosen for evaluation of their therapeutic potential...
2017: PloS One
https://www.readbyqxmd.com/read/28274259/development-of-the-us-english-version-of-the-phenylketonuria-quality-of-life-pku-qol-questionnaire
#20
Elaina Jurecki, Amy Cunningham, Vanessa Birardi, Grégory Gagol, Catherine Acquadro
BACKGROUND: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria - quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers...
March 9, 2017: Health and Quality of Life Outcomes
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