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https://www.readbyqxmd.com/read/29913481/deficiency-of-long-chain-polyunsaturated-fatty-acids-in-phenylketonuria-a-cross-sectional-study
#1
Sławomira Drzymała-Czyż, Łukasz Kałużny, Patrycja Krzyżanowska-Jankowska, Dariusz Walkowiak, Renata Mozrzymas, Jarosław Walkowiak
The etiology of altered blood fatty acid (FA) profile in phenylketonuria (PKU) is understood only partially. We aimed to determine whether FAs deficiency is dependent on the diet or metabolic disturbances. The study comprised 40 PKU patients (20 female, 20 male; aged 11 to 35 years; 12 children and 28 adults) and 40 healthy subjects (HS; 20 female, 20 male, aged 18 to 33 years). We assessed the profile of FAs (gas chromatography/mass spectrometry) and analyzed the 72-hour dietary recalls. The amount of C14:0, C16:0 and C16:1n-7, C18:1n-9 did not differ between the analyzed groups...
2018: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29912642/investigation-of-the-potential-for-a-simplified-exposure-tool-in-medical-nutrition-setim-to-minimise-exposures-to-sweeteners-in-young-patients-aged-1-3-years-with-pku-and-cmpa
#2
Aaron J O'Sullivan, Cian O'Mahony, Leo Meunier, Nik Loveridge, Aideen I McKevitt
Children with Phenylketonuria (PKU) and severe cow's milk protein allergy (CMPA) consume prescribed, specially formulated, foods for special medical purposes (FSMPs) in addition to having restricted intake of normal foods. These vulnerable patients are exposed to artificial sweeteners from the consumption of a combination of both free and prescribed foods. Young patients with PKU and CMPA aged from 1-3 years have a higher risk of exceeding the acceptable daily intake (ADI) for sweeteners than age-matched healthy children...
June 18, 2018: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/29909188/late-diagnosed-phenylketonuria-mimicking-x-linked-adrenoleukodystrophy-with-heterozygous-mutations-of-the-pah-gene-a-case-report-and-literature-review
#3
REVIEW
Yinglu Liu, Zhao Dong, Shengyuan Yu
Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect on the brain and are associated with several neurological signs. Most cases of PKU are identified during infancy, and diagnosis of PKU in adult is rare. Here, we describe a 29-year-old patient with progressive dementia and muscular weakness mimicking X-linked adrenoleukodystrophy...
June 11, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29899773/phenylketonuria-our-experience-in-nine-years-at-a-tertiary-level-referral-institute
#4
Sadanandvalli R Chandra, Rita Christopher, Mane M Daryappa, Rashmi Devaraj
Introduction: Phenyl ketonuria is an inborn error of amino acid metabolism resulting in excessive phenyl alanine levels in blood resulting in a spectrum of neurological defects. Patients and Methods: We retrospectively went through the records of patients diagnosed as Phenyl ketonuria in the last nine years in our team and patients who's data could be accessed were analyzed in detail. Details of laboratory tests, imaging clinical features, course were recorded. Observation: A total of 32 patients were identified in nine years of which data was available only for 15 patients...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29892150/spectrum-of-phenylalanine-hydroxylase-gene-mutations-in-hamadan-and-lorestan-provinces-of-iran-and-their-associations-with-variable-number-of-tandem-repeat-alleles
#5
Reza Alibakhshi, Keivan Moradi, Mostafa Biglari, Samaneh Shafieenia
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase ( PAH ) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequence analysis of all 13 exons and their flanking intronic regions of the PAH gene was performed in 18 western Iranian PKU patients...
May 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29888526/factors-affecting-korean-neonatal-nurses-pain-care-psychometric-evaluation-of-three-instruments
#6
Haeyoung Min, Catherine Vincent, Chang G Park, Alicia K Matthews, Linda L McCreary, Margot Latimer
AIM: The purpose of this study was to evaluate the psychometric properties of the Korean-language versions of Pain Knowledge and Use (PKU-K), Collaboration and Satisfaction About Care Decisions (CSACD-K), and Environmental Complexity Scale (ECS-K). METHODS: A cross-sectional design was used with a convenience sample of 159 Korean nurses in seven neonatal intensive care units (NICUs). The data were collected by surveying the nurses with the PKU-K, CSACD-K, and ECS-K...
June 10, 2018: Japan Journal of Nursing Science: JJNS
https://www.readbyqxmd.com/read/29862149/generation-of-urine-derived-induced-pluripotent-stem-cells-from-a-patient-with-phenylketonuria
#7
Zijuan Qi, Yazhou Cui, Liang Shi, Jing Luan, Xiaoyan Zhou, Jinxiang Han
The aim of the study was to establish an induced pluripotent stem cell line from urine-derived cells (UiPSCs) from a patient with phenylketonuria (PKU) in order to provide a useful research tool with which to examine the pathology of this rare genetic metabolic disease. Urine-derived epithelial cells (UCs) from a 15-year-old male patient with PKU were isolated and reprogrammed with integration-free episomal vectors carrying an OCT4, SOX2, KLF4, and miR-302-367 cluster. PKU-UiPSCs were verified as correct using alkaline phosphatase staining...
May 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29850816/lncadeep-an-ab-initio-lncrna-identification-and-functional-annotation-tool-based-on-deep-learning
#8
Cheng Yang, Longshu Yang, Man Zhou, Haoling Xie, Chengjiu Zhang, May D Wang, Huaiqiu Zhu
Motivation: To characterize long noncoding RNAs (lncRNAs), both identifying and functionally annotating them are essential to be addressed. Moreover, a comprehensive construction for lncRNA annotation is desired to facilitate the research in the field. Results: We present LncADeep, a novel lncRNA identification and functional annotation tool. For lncRNA identification, LncADeep integrates intrinsic and homology features into a deep belief network and constructs models targeting both full- and partial-length transcripts...
May 29, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29850564/the-prevalence-of-phenylketonuria-in-arab-countries-turkey-and-iran-a-systematic-review
#9
REVIEW
Ashraf El-Metwally, Lujane Yousef Al-Ahaidib, Alaa Ayman Sunqurah, Khaled Al-Surimi, Mowafa Househ, Ali Alshehri, Omar B Da'ar, Hira Abdul Razzak, Ali Nasser AlOdaib
Background/Objectives: This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods: A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29777816/aptamer-based-assay-for-monitoring-genetic-disorder-phenylketonuria-pku
#10
Mohammad Hasanzadeh, Amir Zargami, Hossein Navay Baghban, Ahad Mokhtarzadeh, Nasrin Shadjou, Soltanali Mahboob
The genetic disorder phenylketonuria (PKU) is the inability to metabolize phenylalanine because of a lack of the enzyme phenylalanine hydroxylase. Phenylalanine is used to biochemically form proteins, coded for by DNA. The development of an apta-assay for detection of l-Phenylalanine is presented in this work. A highly specific DNA-aptamer, selected to l-Phenylalanine was immobilized onto a gold nanostructure and electrochemical measurements were performed in a solution containing the phosphate buffer solution with physiological pH...
May 16, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29775322/prediction-of-human-cytochrome-p450-inhibition-using-a-multi-task-deep-autoencoder-neural-network
#11
Xiang Li, Youjun Xu, Luhua Lai, Jianfeng Pei
Adverse side effects of drug-drug interactions induced by human cytochrome P450 (CYP450) inhibition is an important consideration in drug discovery. It is highly desirable to develop computational models that can predict the inhibitive effect of a compound against a specific CYP450 isoform. In this study, we developed a multi-task model for concurrent inhibition prediction of five major CYP450 isoforms, namely 1A2, 2C9, 2C19, 2D6, and 3A4. The model was built by training multi-task autoencoder deep neural network (DNN) on a large dataset containing more than 13000 compounds, extracted from PubChem BioAssay Database...
May 18, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29772389/hippocampal-microglia-modifications-in-c57bl-6-pah-enu2-and-btbr-pah-enu2-phenylketonuria-pku-mice-depend-on-the-genetic-background-irrespective-of-disturbed-sleep-patterns
#12
Els van der Goot, Vibeke M Bruinenberg, Femke M Hormann, Ulrich L M Eisel, Francjan J van Spronsen, Eddy A Van der Zee
Toxic levels of phenylalanine in blood and brain is a characteristic of (untreated) phenylketonuria (PKU), leading to cognitive deficits in PKU mice. In addition, our recent findings showed that PKU mice (as well as PKU patients) have a disturbed sleep/wake cycle. As a consequence, sleep loss may contribute to cognitive deficits in PKU. Sleep loss has been linked to increased activation of microglia in the hippocampus. In this study, we set out to examine morphological features of the microglia population in the hippocampus of the mouse PKU model, using both the C57Bl/6 and the BTBR strain and their wild-type controls (age 5...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29768223/nano-biosensor-based-on-reduced-graphene-oxide-and-gold-nanoparticles-for-detection-of-phenylketonuria-associated-dna-mutation
#13
Seyed Morteza Seifati, Navid Nasirizadeh, Mostafa Azimzadeh
Phenylketonuria (PKU)-associated DNA mutation in newborn children can be harmful to his health and early detection is the best way to inhibit consequences. A novel electrochemical nano-biosensor was developed for PKU detection, based on signal amplification using nanomaterials, e.g. gold nanoparticles (AuNPs) decorated on the reduced graphene oxide sheet on the screen-printed carbon electrode. The fabrication steps were checked by field emission scanning electron microscope imaging as well as cyclic voltammetry analysis...
June 2018: IET Nanobiotechnology
https://www.readbyqxmd.com/read/29750256/cavityplus-a-web-server-for-protein-cavity-detection-with-pharmacophore-modelling-allosteric-site-identification-and-covalent-ligand-binding-ability-prediction
#14
Youjun Xu, Shiwei Wang, Qiwan Hu, Shuaishi Gao, Xiaomin Ma, Weilin Zhang, Yihang Shen, Fangjin Chen, Luhua Lai, Jianfeng Pei
CavityPlus is a web server that offers protein cavity detection and various functional analyses. Using protein three-dimensional structural information as the input, CavityPlus applies CAVITY to detect potential binding sites on the surface of a given protein structure and rank them based on ligandability and druggability scores. These potential binding sites can be further analysed using three submodules, CavPharmer, CorrSite, and CovCys. CavPharmer uses a receptor-based pharmacophore modelling program, Pocket, to automatically extract pharmacophore features within cavities...
May 10, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29749107/mutation-analysis-of-the-pah-gene-in-phenylketonuria-patients-from-rio-de-janeiro-southeast-brazil
#15
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian D M Carvalho, Lúcia Lacerda, Márcia G Ribeiro
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula...
May 10, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29688689/strong-lewis-base-ga-4-b-2-o-9-ga-o-connectivity-enhanced-basicity-and-its-applications-in-the-strecker-reaction-and-catalytic-conversion-of-n-propanol
#16
Shixiang Hu, Weilu Wang, Mufei Yue, Guangjia Wang, Wenliang Gao, Rihong Cong, Tao Yang
Heterogeneous solid base catalysis is valuable and promising in chemical industry, however it is insufficiently developed compared to solid acid catalysis due to the lack of satisfied solid base catalysts. To gain the strong basicity, the previous strategy was to basify oxides with alkaline metals to create surficial vacancies or defects, which suffers from the instability under catalytic conditions. Monocomponent basic oxides like MgO are literally stable but deficient in electron-withdrawing ability. Here we prove that a special connectivity of atoms could enhance the Lewis basicity of oxygen in monocomponent solids exemplified by Ga4 B2 O9 ...
May 9, 2018: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29684050/intronic-pah-gene-mutations-cause-a-splicing-defect-by-a-novel-mechanism-involving-u1snrnp-binding-downstream-of-the-5-splice-site
#17
Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disruption of exonic splicing regulatory elements. In this study, we report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29675588/parenting-a-child-with-phenylketonuria-an-investigation-into-the-factors-that-contribute-to-parental-distress
#18
Olivia Ambler, Emma Medford, Dougal J Hare
Phenylketonuria (PKU) is an inherited metabolic condition that can lead to the onset of intellectual disabilities if not strictly managed through a low-protein diet. Parents are responsible for supervising their child's treatment for PKU, which may impact on their experience of distress. This cross-sectional study aimed to identify the factors that contribute to distress in parents who care for a child with PKU, distinct from parents in the general population. Thirty-eight parents of children and adolescents with PKU and 32 parents in the general population completed the questionnaires measuring parental psychological resilience, child behaviour problems, perceived social support and distress...
April 20, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29671746/spatio-temporal-attention-based-lstm-networks-for-3d-action-recognition-and-detection
#19
Sijie Song, Cuiling Lan, Junliang Xing, Wenjun Zeng, Jiaying Liu
Human action analytics has attracted a lot of attention for decades in computer vision. It is important to extract discriminative spatio-temporal features to model the spatial and temporal evolutions of different actions. In this paper, we propose a spatial and temporal attention model to explore the spatial and temporal discriminative features for human action recognition and detection from skeleton data. We build our networks based on the recurrent neural networks with long short-term memory units. The learned model is capable of selectively focusing on discriminative joints of skeletons within each input frame and paying different levels of attention to the outputs of different frames...
July 2018: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/29661557/a-new-therapy-prevents-intellectual-disability-in-mouse-with-phenylketonuria
#20
Tiziana Pascucci, Luigia Rossi, Marco Colamartino, Claudia Gabucci, Claudia Carducci, Alessandro Valzania, Valeria Sasso, Noemi Bigini, Francesca Pierigè, Maria Teresa Viscomi, Rossella Ventura, Simona Cabib, Mauro Magnani, Stefano Puglisi-Allegra, Vincenzo Leuzzi
Untreated phenylketonuria (PKU) results in severe neurodevelopmental disorders, which can be partially prevented by an early and rigorous limitation of phenylalanine (Phe) intake. Enzyme substitution therapy with recombinant Anabaena variabilis Phe Ammonia Lyase (rAvPAL) proved to be effective in reducing blood Phe levels in preclinical and clinical studies of adults with PKU. Aims of present study were: a) to gather proofs of clinical efficacy of rAvPAL treatment in preventing neurological impairment in an early treated murine model of PKU; b) to test the advantages of an alternative delivering system for rAvPAL such as autologous erythrocytes...
May 2018: Molecular Genetics and Metabolism
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