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https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#1
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28071012/phenylketonuria-is-not-a-risk-factor-for-changes-of-inflammation-status-as-assessed-by-interleukin-6-and-interleukin-8-concentrations
#2
Renata Mozrzymas, Monika Duś-Żuchowska, Łukasz Kałużny, Ewa Wenska-Chyży, Jarosław Walkowiak
BACKGROUND: High oxidative stress and a reduced potential for free radical scavenging in phenylketonuria (PKU) patients, a phenomenon confirmed in a few studies, may lead to systemic chronic inflammation. The aim of this study was to compare the inflammation status, as assessed by interleukin 6 and interleukin 8 concentrations, in patients with PKU and in healthy controls. METHODS: Twenty patients with classical PKU, aged 18-34 years and under dietary control, were enrolled in the study...
April 2016: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28065896/ge-mini-a-mobile-app-for-large-scale-gene-expression-visualization
#3
Zefang Tang, Chenwei Li, Karena Zhang, Mingyu Yang, Xueda Hu
: The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) projects produced large-scale RNA sequencing data, which provides an opportunity for performing integrated expression analysis for all genes across tens of thousands of tumor and normal tissue specimens. Rapid access to and easy visualization of such valuable data could facilitate research in a wide biological area. Here, we present the GE-mini APP for smart phones, a mobile visualization tool for integrated gene expression data based on both TCGA and GTEx...
January 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28044061/in-silico-identification-and-in-vivo-validation-of-mir-495-as-a-novel-regulator-of-motivation-for-cocaine-that-targets-multiple-addiction-related-networks-in-the-nucleus-accumbens
#4
R M Bastle, R J Oliver, A S Gardiner, N S Pentkowski, F Bolognani, A M Allan, T Chaudhury, M St Peter, N Galles, C Smith, J L Neisewander, N I Perrone-Bizzozero
MicroRNAs (miRNAs) are important post-transcriptional regulators of gene expression and are implicated in the etiology of several neuropsychiatric disorders, including substance use disorders (SUDs). Using in silico genome-wide sequence analyses, we identified miR-495 as a miRNA whose predicted targets are significantly enriched in the Knowledgebase for Addiction Related Genes (ARG) database (KARG; http://karg.cbi.pku.edu.cn). This small non-coding RNA is also highly expressed within the nucleus accumbens (NAc), a pivotal brain region underlying reward and motivation...
January 3, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/27987180/construction-of-the-leaf-senescence-database-and-functional-assessment-of-senescence-associated-genes
#5
Zhonghai Li, Yi Zhao, Xiaochuan Liu, Zhiqiang Jiang, Jinying Peng, Jinpu Jin, Hongwei Guo, Jingchu Luo
Leaf senescence is the last phase of plant development and a highly coordinated process regulated by a large number of senescence-associated genes (SAGs). By broad literature survey, we constructed a leaf senescence database (LSD) in 2011 and updated it to Version 2.0 in 2014 ( http://www.eplantsenescence.org/ and http://psd.cbi.pku.edu.cn/ ) which contains a total of 5357 genes and 324 mutants from 44 species. These SAGs were retrieved based on genetic, genomic, proteomic, physiological, or other experimental evidence and were classified into different categories according to their functions in leaf senescence or morphological phenotype of mutants...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27957302/challenges-of-implementation-of-the-national-phenylketonuria-screening-program-in-iran-a-qualitative-study
#6
Alireza Heidari, Mohammad Arab, Koorosh Etemad, Behzad Damari, Mohammad Javad Kabir
INTRODUCTION: Newborn screening (NBS) is a public health measure aimed at identification of early cases, management of afflicted infants, and making efforts to reduce the morbidity and mortality among newborns. All countries may face challenges in implementation of screening programs. The present study aimed to determine the challenges of implementation of the National Phenylketonuria (PKU) Screening Program in Iran. METHODS: In this qualitative study, 38 health policymakers, managers, and PKU experts in Iran were purposively selected as the respondents in 2015...
October 2016: Electronic Physician
https://www.readbyqxmd.com/read/27956861/biochemical-evaluation-of-phenylalanine-ammonia-lyase-from-endemic-plant-cyathobasis-fruticulosa-bunge-aellen-for-the-dietary-treatment-of-phenylketonuria
#7
Seda Şirin, Selcen Babaoğlu Aydaş, Belma Aslım
Enzyme substitution therapy with the phenylalanine ammonia lyase (PAL) is a new approach to the treatment of patients with phenylketonuria (PKU). This enzyme is responsible for the conversion of phenylalanine to trans-cinnamic acid. We assessed the PAL enzyme of the endemic plant Cyathobasis fruticulosa (Bunge) Aellen. for its possible role in the dietary treatment of PKU. The enzyme was found to have a high activity of (64.9±0.1) U/mg, with the optimum pH, temperature and buffer (Tris-HCl and l-phenylalanine) concentration levels of pH=8...
September 2016: Food Technology and Biotechnology
https://www.readbyqxmd.com/read/27924042/planttfdb-4-0-toward-a-central-hub-for-transcription-factors-and-regulatory-interactions-in-plants
#8
Jinpu Jin, Feng Tian, De-Chang Yang, Yu-Qi Meng, Lei Kong, Jingchu Luo, Ge Gao
With the goal of providing a comprehensive, high-quality resource for both plant transcription factors (TFs) and their regulatory interactions with target genes, we upgraded plant TF database PlantTFDB to version 4.0 (http://planttfdb.cbi.pku.edu.cn/). In the new version, we identified 320 370 TFs from 165 species, presenting a more comprehensive genomic TF repertoires of green plants. Besides updating the pre-existing abundant functional and evolutionary annotation for identified TFs, we generated three new types of annotation which provide more directly clues to investigate functional mechanisms underlying: (i) a set of high-quality, non-redundant TF binding motifs derived from experiments; (ii) multiple types of regulatory elements identified from high-throughput sequencing data; (iii) regulatory interactions curated from literature and inferred by combining TF binding motifs and regulatory elements...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27905536/post-translational-incorporation-of-l-phenylalanine-into-the-c-terminus-of-%C3%AE-tubulin-as-a-possible-cause-of-neuronal-dysfunction
#9
Yanina Ditamo, Yanela M Dentesano, Silvia A Purro, Carlos A Arce, C Gastón Bisig
α-Tubulin C-terminus undergoes post-translational, cyclic tyrosination/detyrosination, and L-Phenylalanine (Phe) can be incorporated in place of tyrosine. Using cultured mouse brain-derived cells and an antibody specific to Phe-tubulin, we showed that: (i) Phe incorporation into tubulin is reversible; (ii) such incorporation is not due to de novo synthesis; (iii) the proportion of modified tubulin is significant; (iv) Phe incorporation reduces cell proliferation without affecting cell viability; (v) the rate of neurite retraction declines as level of C-terminal Phe incorporation increases; (vi) this inhibitory effect of Phe on neurite retraction is blocked by the co-presence of tyrosine; (vii) microtubule dynamics is reduced when Phe-tubulin level in cells is high as a result of exogenous Phe addition and returns to normal values when Phe is removed; moreover, microtubule dynamics is also reduced when Phe-tubulin is expressed (plasmid transfection)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#10
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27878409/analysis-of-the-functional-muscle-bone-unit-of-the-forearm-in-patients-with-phenylketonuria-by-peripheral-quantitative-computed-tomography
#11
Daniela Choukair, Carolin Kneppo, Reinhard Feneberg, Eckhard Schönau, Martin Lindner, Stefan Kölker, Georg F Hoffmann, Burkhard Tönshoff
Bone disease in patients with phenylketonuria (PKU) is incompletely characterized. We therefore analyzed, in a cross-sectional study radius macroscopic bone architecture and forearm muscle size by peripheral quantitative computed tomography (pQCT) and muscle strength by hand dynamometry in a large cohort (n = 56) of adolescent and adult patients with PKU aged 26.0 ± 8.9 (range, 11.8-41.5) years. Data were compared with a reference population (n = 700) from the DONALD study using identical methodology...
November 22, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27852242/annolnc-a-web-server-for-systematically-annotating-novel-human-lncrnas
#12
Mei Hou, Xing Tang, Feng Tian, Fangyuan Shi, Fenglin Liu, Ge Gao
BACKGROUND: Long noncoding RNAs (lncRNAs) have been shown to play essential roles in almost every important biological process through multiple mechanisms. Although the repertoire of human lncRNAs has rapidly expanded, their biological function and regulation remain largely elusive, calling for a systematic and integrative annotation tool. RESULTS: Here we present AnnoLnc ( http://annolnc.cbi.pku.edu.cn ), a one-stop portal for systematically annotating novel human lncRNAs...
November 16, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27832415/household-financial-burden-of-phenylketonuria-and-its-impact-on-treatment-in-china-a-cross-sectional-study
#13
Lin Wang, Hui Zou, Fang Ye, Kundi Wang, Xiaowen Li, Zhihua Chen, Jie Chen, Bingjuan Han, Weimin Yu, Chun He, Ming Shen
BACKGROUND: Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time. METHODS: A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27830119/the-first-mongolian-cases-of-phenylketonuria-in-selective-screening-of-inborn-errors-of-metabolism
#14
Jamiyan Purevsuren, Baasandai Bolormaa, Chogdon Narantsetseg, Renchindorj Batsolongo, Ochirbat Enkhchimeg, Munkhuu Bayalag, Yuki Hasegawa, Haruo Shintaku, SeijiYamaguchi
BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed cases of IEM in Mongolia. Only pilot study of newborn screening for congenital hypothyroidism was implemented in Mongolia, where the incidence of congenital hypothyroidism is calculated to be 1:3057 in Mongolia...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27805419/systematic-review-and-meta-analysis-of-neuropsychiatric-symptoms-and-executive-functioning-in-adults-with-phenylketonuria
#15
Deborah A Bilder, J Kay Noel, Erin R Baker, William Irish, Yinpu Chen, Markus J Merilainen, Suyash Prasad, Barbara J Winslow
This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU). The meta-analysis of PKU is challenging because high-quality evidence is lacking due to the limited number of affected individuals and few placebo-controlled, double-blind studies of adults with high and low blood Phe. Neuropsychiatric symptoms associated with PKU exceed general population estimates for inattention, hyperactivity, depression, and anxiety...
May 2016: Developmental Neuropsychology
https://www.readbyqxmd.com/read/27786189/crispr-rna-guided-foki-nucleases-repair-a-pah-variant-in-a-phenylketonuria-model
#16
Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F Hoffmann, Jörg D Hoheisel, Nenad Blau
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) to correct the most common variant (allele frequency 21.4%) in the phenylalanine hydroxylase (PAH) gene - c.1222C>T (p.Arg408Trp) - as an approach toward curing phenylketonuria (PKU). PKU is the most common inherited diseases in amino acid metabolism. It leads to severe neurological and neuropsychological symptoms if untreated or late diagnosed...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27765976/effect-of-ultrafiltered-milk-permeate-and-non-dairy-creamer-powder-concentration-on-low-phenylalanine-yoghurt-s-physicochemical-properties-during-storage
#17
Parisa Goldar, Mohammad Hadi Givianrad, Akbar Shams
Phenylketonuria (PKU) is a genetic disorder that has no cure and all patients with this disorder must adhere to a special diet to prevent the onset of symptoms and mental retardation in children. In this study, analog yoghurt with good and acceptable nutrition benefit for PKU patients was produced. Accordingly, ultrafiltered milk permeate was added at two different concentrations of 4 and 5 w/w % and non-dairy creamer at two different concentrations of 1.5 and 2 w/w %. Subsequently, pH, acidity, protein, fat, dry matter, humidity, syneresis and Phe of the yogurts were determined...
July 2016: Journal of Food Science and Technology
https://www.readbyqxmd.com/read/27761676/multicompartment-analysis-of-protein-restricted-phenylketonuric-mice-reveals-amino-acid-imbalances-in-brain
#18
Kara R Vogel, Erland Arning, Teodoro Bottiglieri, K Michael Gibson
BACKGROUND: The mainstay of therapy for phenylketonuria (PKU) remains dietary protein restriction. Developmental and neurocognitive outcomes for patients, however, remain suboptimal. We tested the hypothesis that mice with PKU receiving protein-restricted diets would reveal disruptions of brain amino acids that shed light on these neurocognitive deficits. METHOD: Phenylalanine hydroxylase-deficient (PKU) mice and parallel controls (both wild-type and heterozygous) were fed custom diets containing 18, 6, and 4 % protein for 3 weeks, after which tissues (brain, liver, sera) were collected for amino acid analysis profiling...
October 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27734896/3disease-browser-a-web-server-for-integrating-3d-genome-and-disease-associated-chromosome-rearrangement-data
#19
Ruifeng Li, Yifang Liu, Tingting Li, Cheng Li
Chromosomal rearrangement (CR) events have been implicated in many tumor and non-tumor human diseases. CR events lead to their associated diseases by disrupting gene and protein structures. Also, they can lead to diseases through changes in chromosomal 3D structure and gene expression. In this study, we search for CR-associated diseases potentially caused by chromosomal 3D structure alteration by integrating Hi-C and ChIP-seq data. Our algorithm rediscovers experimentally verified disease-associated CRs (polydactyly diseases) that alter gene expression by disrupting chromosome 3D structure...
October 13, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27682710/co-existence-of-phenylketonuria-either-with-maple-syrup-urine-disease-or-sandhoff-disease-in-two-patients-from-iran-emphasizing-the-role-of-consanguinity
#20
Maryam Abiri, Saeed Talebi, Jouni Uitto, Leila Youssefian, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Sirous Zeinali
Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
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