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[PMID]: 28498829 [Au] Autor: Borsatto T; Sperb-Ludwig F; Lima SE; S Carvalho MR; S Fonseca PA; S Camelo J; M Ribeiro E; F V de Medeiros P; M Lourenço C; F M de Souza C; Boy R; Félix TM; M Bittar C; L C Pinto L; C Neto E; J Blom H; D Schwartz IV [Ad] Endereço: Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. [Ti] Título: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. [So] Source: PLoS One;12(5):e0177503, 2017. [Is] ISSN: 1932-6203 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: INTRODUCTION: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who exhibited low biotinidase activity. For each patient, the expected biochemical phenotype based on the known genotype was compared with the observed biochemical phenotype. Additional non-genetic factors that could affect the biotinidase activity were also analysed. RESULTS: Most individuals were identified by neonatal screening (n = 66/72). When consecutive results for the same patient were compared, age, prematurity and neonatal jaundice appeared to affect the level of biotinidase activity. The biochemical phenotype at the time of the second blood collection changed in 11/22 patients compared to results from the first sample. Three novel variants were found: c.1337T>C (p.L446P), c.1466A>G (p.N489S) and c.962G>A (p.W321*). Some patients with the same genotype presented different biochemical phenotypes. The expected and observed biochemical phenotypes agreed in 68.5% of cases (concordant patients). The non-coding variants c.-183G>A, c.-315A>G and c.-514C>T were present in heterozygosis in 5/17 discordant patients. In addition, c.-183G>A and c.-514C>T were also present in 10/37 concordant patients. CONCLUSIONS: The variants found in the promoter region do not appear to have a strong impact on biotinidase activity. Since there is a disparity between the BTD genotype and biochemical phenotype, and biotinidase activity may be affected by both genetic and non-genetic factors, we suggest that the diagnosis of BD should be based on more than one measurement of plasma biotinidase activity. DNA analysis can be of additional relevance to differentiate between partial BD and heterozygosity. [Mh] Termos MeSH primário: Deficiência de Biotinidase/metabolismo Biotinidase/metabolismo [Mh] Termos MeSH secundário: Adolescente Biotinidase/genética Deficiência de Biotinidase/genética Deficiência de Biotinidase/patologia Brasil Criança Pré-Escolar Biologia Computacional Estudos Transversais Feminino Estudos de Associação Genética Genótipo Seres Humanos Lactente Masculino [Pt] Tipo de publicação: JOURNAL ARTICLE; MULTICENTER STUDY [Nm] Nome de substância: EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1709 [Cu] Atualização por classe: 170907 [Lr] Data última revisão: 170907 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170513 [St] Status: MEDLINE [do] DOI: 10.1371/journal.pone.0177503

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[PMID]: 27845546 [Au] Autor: Asgari A; Rouhi Dehnabeh S; Zargari M; Khani S; Mozafari H; Varasteh A; Keyfi F; Barzegari M; Hasanzaeh R; Khatami S [Ad] Endereço: Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran, Department of Biochemistry, Mazandaran University of Medical Sciences, Sari, Iran. [Ti] Título: Clinical, Biochemical and Genetic Analysis of Biotinidase Deficiency in Iranian Population. [So] Source: Arch Iran Med;19(11):774-778, 2016 Nov. [Is] ISSN: 1735-3947 [Cp] País de publicação: Iran [La] Idioma: eng [Ab] Resumo: BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive disorder of biotin metabolism. Biotin is a coenzyme that enhances the action of the four enzymes that play an important role in carbohydrates, amino acid, and fatty acid metabolism. Defects in these pathways cause severe metabolic disorder in the body. In general, biotinidase deficiency can be classified into two levels: partial and profound. The incidence of BTD is 1:40,000 to 1:60,000 births in the world, even though no convincing statistical data on the prevalence of this disorder exist in Iran. In this study, we aimed to set up a test for determining biotinidase activity among the Iranian population and report BTD mutations. PATIENTS AND METHODS: The quantitative method for the determination of biotinidase activity was set up in the National Biochemistry Reference Laboratory (NBRL) of Pasteur Institute of Iran in Tehran. To detect mutations in BTD, polymerase chain reaction (PCR) was performed followed by DNA sequencing. RESULTS: The biotinidase activity range values were 3.81 - 8.25 nmol/min/mL. We identified 8 BTD patients out of 47 cases with neurologic signs. We detected two mutations, c.98-104del7ins3 and p.Arg79Cys, in 5 patients with profound BTD, and one p.Asp444His mutation in 3 patients with partial BTD. CONCLUSION: Infants suffering from BTD seem healthy during their first months of life. At present, the screening program for metabolic disorders such as BTD is in progress. The patients that are BTD deficient benefit from the availability of the tests, and consequently receive the Biotin supplements before being clinically affected. [Mh] Termos MeSH primário: Deficiência de Biotinidase/diagnóstico Deficiência de Biotinidase/genética Biotinidase/sangue Testes Genéticos [Mh] Termos MeSH secundário: Biotinidase/genética Deficiência de Biotinidase/sangue Criança Pré-Escolar Feminino Seres Humanos Irã (Geográfico) Masculino Mutação Reação em Cadeia da Polimerase Análise de Sequência de DNA [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1702 [Cu] Atualização por classe: 170817 [Lr] Data última revisão: 170817 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161116 [St] Status: MEDLINE

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[PMID]: 27723977 [Au] Autor: Prakash S; Hazari PP; Meena VK; Jaswal A; Khurana H; Kukreti S; Mishra AK [Ad] Endereço: Division of Cyclotron and Radiopharmaceutical Sciences, Institute of Nuclear Medicine and Allied Sciences , Brig SK Mazumdar Road, Delhi-110054, India. [Ti] Título: Biotinidase Resistant Gallium-Radioligand Based on Biotin/Avidin Interaction for Pretargeting: Synthesis and Preclinical Evaluation. [So] Source: Bioconjug Chem;27(11):2780-2790, 2016 Nov 16. [Is] ISSN: 1520-4812 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: A new macrocyclic system 2,2'-(12-amino-11,13-dioxo-1,4,7,10-tetraazacyclotridecane-4,7-diyl)diacetic acid (ATRIDAT) was designed for coordinating metals in +2 and +3 oxidation states particularly Ga(III), for PET imaging. ATRIDAT was conjugated to d-biotin for pretargeting via biotin-avidin interaction. This model provides high tumor targeting efficiency and stability to biotinidase activity leading to modest signal amplification at the tumor site. Cyclization of triethylenetetramine with protected diethylamino malonate resulted in the formation of 13 membered diamide ring. d-Biotin was then anchored on the pendant amine rendering α-methyne carbon to the biotinamide bond which blocks the biotinidase enzyme activity. Biotinidase stability assay showed remarkable stability toward the action of biotinidase with ∼95% remaining intact after treatment following 4 h. Binding affinity experiments such as HABA assay, competitive displacement studies with d-biotin and CD showed high binding affinity of the molecule with avidin in nanomolar range. Biotin conjugate was successfully radiolabeled with Ga(III) with radiolabeling efficiency of ∼70% and then purified to get 99.9% radiochemical yield. IC of the compound was found to be 2.36 mM in HEK cell line and 0.82 mM in A549 as assessed in MTT assay. In biodistribution studies, the major route of excretion was found to be renal. Significant uptake of 4.15 ± 0.35% was observed in tumor in the avidin pretreated mouse at 1 h. µPET images also showed a high tumor to muscle ratio of 26.8 and tumor to kidney ratio of 1.74 at 1 h post-injection after avidin treatment. [Mh] Termos MeSH primário: Avidina/metabolismo Biotina/metabolismo Biotinidase/metabolismo Radioisótopos de Gálio Compostos Macrocíclicos/química Compostos Macrocíclicos/metabolismo [Mh] Termos MeSH secundário: Animais Sobrevivência Celular/efeitos dos fármacos Técnicas de Química Sintética Células HEK293 Seres Humanos Cinética Ligantes Compostos Macrocíclicos/farmacocinética Compostos Macrocíclicos/farmacologia Camundongos Tomografia por Emissão de Pósitrons Ligação Proteica Prótons Radioquímica Ratos Distribuição Tecidual [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Gallium Radioisotopes); 0 (Ligands); 0 (Macrocyclic Compounds); 0 (Protons); 1405-69-2 (Avidin); 6SO6U10H04 (Biotin); EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 170531 [Lr] Data última revisão: 170531 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161012 [St] Status: MEDLINE

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[PMID]: 27378695 [Au] Autor: Permuth JB; Pirie A; Ann Chen Y; Lin HY; Reid BM; Chen Z; Monteiro A; Dennis J; Mendoza-Fandino G; Anton-Culver H; Bandera EV; Bisogna M; Brinton L; Brooks-Wilson A; Carney ME; Chenevix-Trench G; Cook LS; Cramer DW; Cunningham JM; Cybulski C; D'Aloisio AA; Anne Doherty J; Earp M; Edwards RP; Fridley BL; Gayther SA; Gentry-Maharaj A; Goodman MT; Gronwald J; Hogdall E; Iversen ES; Jakubowska A; Jensen A; Karlan BY; Kelemen LE; Kjaer SK; Kraft P; Le ND; Levine DA; Lissowska J; Lubinski J; Matsuo K; Menon U; Modugno R; Moysich KB; Nakanishi T; Ness RB; Olson S; Orlow I; Pearce CL; AOCS Study Group; Australian Cancer Study (Ovarian Cancer); Ovarian Cancer Association Consortium [Ad] Endereço: Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA. [Ti] Título: Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. [So] Source: Hum Mol Genet;25(16):3600-3612, 2016 Aug 15. [Is] ISSN: 1460-2083 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P < 5.0 × 10 ). One of the most significant signals (P = 1.01 × 10 ;P = 3.54 × 10 ) occurred at 3q25.31 for rs62273959, a missense variant mapping to the LEKR1 gene that is in LD (r = 0.90) with a previously identified 'best hit' (rs7651446) mapping to an intron of TIPARP. Suggestive associations (5.0 × 10 > P≥5.0 ×10 ) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). Genes most strongly associated with EOC risk included ACTBL2 (P = 3.23 × 10 ; P = 9.23 × 10 ) and KRT13 (P = 1.67 × 10 ; P = 1.07 × 10 ), reaffirming variant-level analysis. In summary, this large study identified several rare and low-frequency variants and genes that may contribute to EOC susceptibility, albeit with possible small effects. Future studies that integrate epidemiology, sequencing, and functional assays are needed to further unravel the unexplained heritability and biology of this disease. [Mh] Termos MeSH primário: Actinas/genética Biotinidase/genética Queratina-13/genética Neoplasias Epiteliais e Glandulares/genética Neoplasias Ovarianas/genética Receptor Tipo 2 de Melanocortina/genética [Mh] Termos MeSH secundário: Exoma/genética Feminino Predisposição Genética para Doença Estudo de Associação Genômica Ampla Genótipo Seres Humanos Proteínas de Neoplasias/genética Neoplasias Epiteliais e Glandulares/patologia Neoplasias Ovarianas/patologia Polimorfismo de Nucleotídeo Único [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (ACTC1 protein, human); 0 (Actins); 0 (KRT13 protein, human); 0 (Keratin-13); 0 (Neoplasm Proteins); 0 (Receptor, Melanocortin, Type 2); EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170922 [Lr] Data última revisão: 170922 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160706 [St] Status: MEDLINE [do] DOI: 10.1093/hmg/ddw196

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[PMID]: 27264091 [Au] Autor: Yuasa M; Aoyama Y; Shimada R; Sawamura H; Ebara S; Negoro M; Fukui T; Watanabe T [Ad] Endereço: Department of Dietary Environment Analysis, School of Human Science and Environment, University of Hyogo. [Ti] Título: Effects of Biotin Deficiency on Biotinylated Proteins and Biotin-Related Genes in the Rat Brain. [So] Source: J Nutr Sci Vitaminol (Tokyo);62(2):81-7, 2016. [Is] ISSN: 1881-7742 [Cp] País de publicação: Japan [La] Idioma: eng [Ab] Resumo: Biotin is a water-soluble vitamin that functions as a cofactor for biotin-dependent carboxylases. The biochemical and physiological roles of biotin in brain regions have not yet been investigated sufficiently in vivo. Thus, in order to clarify the function of biotin in the brain, we herein examined biotin contents, biotinylated protein expression (e.g. holocarboxylases), and biotin-related gene expression in the brain of biotin-deficient rats. Three-week-old male Wistar rats were divided into a control group, biotin-deficient group, and pair-fed group. Rats were fed experimental diets from 3 wk old for 8 wk, and the cortex, hippocampus, striatum, hypothalamus, and cerebellum were then collected. In the biotin-deficient group, the maintenance of total biotin and holocarboxylases, increases in the bound form of biotin and biotinidase activity, and the expression of an unknown biotinylated protein were observed in the cortex. In other regions, total and free biotin contents decreased, holocarboxylase expression was maintained, and bound biotin and biotinidase activity remained unchanged. Biotin-related gene (pyruvate carboxylase, sodium-dependent multivitamin transporter, holocarboxylase synthetase, and biotinidase) expression in the cortex and hippocampus also remained unchanged among the dietary groups. These results suggest that biotin may be related to cortex functions by binding protein, and the effects of a biotin deficiency and the importance of biotin differ among the different brain regions. [Mh] Termos MeSH primário: Biotina/deficiência Encéfalo/metabolismo [Mh] Termos MeSH secundário: Animais Biotinidase/genética Biotinidase/metabolismo Carbono-Nitrogênio Ligases/genética Carbono-Nitrogênio Ligases/metabolismo Regulação da Expressão Gênica Masculino Piruvato Carboxilase/genética Piruvato Carboxilase/metabolismo Ratos Ratos Wistar Simportadores/genética Simportadores/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Symporters); 0 (biotin transporter); 6SO6U10H04 (Biotin); EC 3.5.1.12 (Biotinidase); EC 6.3.- (Carbon-Nitrogen Ligases); EC 6.3.4.- (holocarboxylase synthetases); EC 6.3.4.14 (biotin carboxylase); EC 6.4.1.1 (Pyruvate Carboxylase) [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 170512 [Lr] Data última revisão: 170512 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160607 [St] Status: MEDLINE [do] DOI: 10.3177/jnsv.62.81

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[PMID]: 26810761 [Au] Autor: Procter M; Wolf B; Mao R [Ad] Endereço: ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT, USA. [Ti] Título: Forty-eight novel mutations causing biotinidase deficiency. [So] Source: Mol Genet Metab;117(3):369-72, 2016 Mar. [Is] ISSN: 1096-7206 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms. The symptoms can be ameliorated or prevented by administering pharmacological doses of biotin. Since 2008, approximately 300 samples have been submitted to ARUP's Molecular Sequencing Laboratory for biotinidase mutation analysis. Of these, 48 novel alterations in the biotinidase gene have been identified. Correlating the individual's serum enzymatic activity with the genotype, we have been able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals. The novel mutations and uncertain alterations have been added to the database established by ARUP (http://arup.utah.edu/database/BTD/BTD_welcome.phps) to help clinicians make decisions about management and to better counsel their patients based on their genotypes. [Mh] Termos MeSH primário: Deficiência de Biotinidase/genética Biotinidase/genética Mutação [Mh] Termos MeSH secundário: Biotina/uso terapêutico Biotinidase/sangue Biotinidase/metabolismo Criança Pré-Escolar Análise Mutacional de DNA Bases de Dados Genéticas Éxons Feminino Genótipo Seres Humanos Masculino Análise de Sequência de DNA [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 6SO6U10H04 (Biotin); EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 161230 [Lr] Data última revisão: 161230 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160127 [St] Status: MEDLINE

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[PMID]: 26519781 [Au] Autor: Wilson K; Hawken S; Potter BK; Chakraborty P; Walker M; Ducharme R; Little J [Ad] Endereço: Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada; Institute for Clinical Evaluative Sciences, University of Ottawa, Ottawa, Ontario, Canada; School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Ontario, Canada; Departm [Ti] Título: Accurate prediction of gestational age using newborn screening analyte data. [So] Source: Am J Obstet Gynecol;214(4):513.e1-513.e9, 2016 Apr. [Is] ISSN: 1097-6868 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: BACKGROUND: Identification of preterm births and accurate estimates of gestational age for newborn infants is vital to guide care. Unfortunately, in developing countries, it can be challenging to obtain estimates of gestational age. Routinely collected newborn infant screening metabolic analytes vary by gestational age and may be useful to estimate gestational age. OBJECTIVE: We sought to develop an algorithm that could estimate gestational age at birth that is based on the analytes that are obtained from newborn infant screening. STUDY DESIGN: We conducted a population-based cross-sectional study of all live births in the province of Ontario that included 249,700 infants who were born between April 2007 and March 2009 and who underwent newborn infant screening. We used multivariable linear and logistic regression analyses to build a model to predict gestational age using newborn infant screening metabolite measurements and readily available physical characteristics data (birthweight and sex). RESULTS: The final model of our metabolic gestational dating algorithm had an average deviation between observed and expected gestational age of approximately 1 week, which suggests excellent predictive ability (adjusted R-square of 0.65; root mean square error, 1.06 weeks). Two-thirds of the gestational ages that were predicted by our model were accurate within ±1 week of the actual gestational age. Our logistic regression model was able to discriminate extremely well between term and increasingly premature categories of infants (c-statistic, >0.99). CONCLUSION: Metabolic gestational dating is accurate for the prediction of gestational age and could have value in low resource settings. [Mh] Termos MeSH primário: Idade Gestacional Triagem Neonatal [Mh] Termos MeSH secundário: 17-alfa-Hidroxiprogesterona/sangue Algoritmos Aminoácidos/sangue Biomarcadores/sangue Biotinidase/sangue Peso ao Nascer Carnitina/análogos & derivados Carnitina/sangue Estudos Transversais Ácidos Graxos/sangue Feminino Seres Humanos Recém-Nascido Modelos Logísticos Masculino Ontário Oxirredução Gravidez Tireotropina/sangue UTP-Hexose-1-Fosfato Uridililtransferase/sangue [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; VALIDATION STUDIES [Nm] Nome de substância: 0 (Amino Acids); 0 (Biomarkers); 0 (Fatty Acids); 0 (acylcarnitine); 68-96-2 (17-alpha-Hydroxyprogesterone); 9002-71-5 (Thyrotropin); EC 2.7.7.10 (UTP-Hexose-1-Phosphate Uridylyltransferase); EC 3.5.1.12 (Biotinidase); S7UI8SM58A (Carnitine) [Em] Mês de entrada: 1608 [Cu] Atualização por classe: 170922 [Lr] Data última revisão: 170922 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 151101 [St] Status: MEDLINE

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[PMID]: 26456103 [Au] Autor: Wolf B [Ad] Endereço: Department of Research Administration, Henry Ford Hospital, Detroit, MI 48202, USA; Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, USA. Electronic address: bwolf1@hfhs.org. [Ti] Título: Biotinidase deficiency and our champagne legacy. [So] Source: Gene;589(2):142-50, 2016 Sep 10. [Is] ISSN: 1879-0038 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. Symptomatic individuals can be markedly improved by treating them with pharmacological doses of biotin; however, some clinical features may be irreversible. Fortunately, essentially all symptoms can be prevented if treatment is initiated at birth or before the symptoms develop. Because of this, the disorder is currently screened for in newborns in all states in the United States and in many countries around the world. This is the story of one laboratory's work in bringing basic science research from the discovery of the disorder to its translation into clinical medicine and its impact on the individuals with the disorder and their families. [Mh] Termos MeSH primário: Biotina/uso terapêutico Deficiência de Biotinidase/tratamento farmacológico Deficiência de Biotinidase/história Biotinidase/genética Mutação Pesquisa Médica Translacional/história [Mh] Termos MeSH secundário: Animais Biotina/metabolismo Biotinidase/história Deficiência de Biotinidase/diagnóstico Deficiência de Biotinidase/genética Modelos Animais de Doenças Expressão Gênica História do Século XX História do Século XXI Seres Humanos Recém-Nascido Camundongos Triagem Neonatal Estados Unidos [Pt] Tipo de publicação: HISTORICAL ARTICLE; JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 6SO6U10H04 (Biotin); EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1701 [Cu] Atualização por classe: 170126 [Lr] Data última revisão: 170126 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151013 [St] Status: MEDLINE

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[PMID]: 26400555 [Au] Autor: Szabó E; Szatmári I; Szonyi L; Takáts Z [Ad] Endereço: 1st Department of Pediatrics, Semmelweis University , Budapest, 1085 Hungary. [Ti] Título: Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples. [So] Source: Anal Chem;87(20):10573-8, 2015 Oct 20. [Is] ISSN: 1520-6882 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Biotinidase activity assay is included in most newborn screening protocols, and the positive results are confirmed by quantitative enzyme activity measurements. In our study, we describe a new quantitative analytical method for the determination of biotinidase activity using the blood sample deposited onto filter paper as the assay medium, by predepositing N-biotinyl-p-aminobenzoic acid onto the standard sample collection paper. The analysis of the assay mixture requires a simple extraction step from a dried blood spot followed by the quantification of product by LC-MS. The method provides a simple and reliable enzyme assay method that enables the rapid diagnosis of biotinidase deficiency (BD). Out of the measured 36 samples, 13 were healthy with lower enzyme activities, 16 were patients with partial BD, and 7 were patients with profound BD with residual activity below 10%. Expression of enzyme activity in percentage of mean activity of negative controls allows comparison of the different techniques. The obtained results are in good agreement with activity data determined from both dried blood spots and serum samples, giving an informative diagnostic value. [Mh] Termos MeSH primário: Biotinidase/sangue Teste em Amostras de Sangue Seco Ensaios Enzimáticos Triagem Neonatal [Mh] Termos MeSH secundário: Adulto Biotinidase/metabolismo Deficiência de Biotinidase/diagnóstico Cromatografia Líquida de Alta Pressão Ativação Enzimática Voluntários Saudáveis Seres Humanos Recém-Nascido Espectrometria de Massas [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1604 [Cu] Atualização por classe: 151020 [Lr] Data última revisão: 151020 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 150925 [St] Status: MEDLINE [do] DOI: 10.1021/acs.analchem.5b02996

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[PMID]: 26361991 [Au] Autor: Gannavarapu S; Prasad C; DiRaimo J; Napier M; Goobie S; Potter M; Chakraborty P; Karaceper M; Munoz T; Schulze A; MacKenzie J; Li L; Geraghty MT; Al-Dirbashi OY; Rupar CA [Ad] Endereço: Department of Pediatrics London Health Sciences Centre and Western University, London ON, Canada. [Ti] Título: Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). [So] Source: Mol Genet Metab;116(3):146-51, 2015 Nov. [Is] ISSN: 1096-7206 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay. Ontario, Canada incorporated this treatable deficiency in newborn screening over the past 8years. This study elucidates the molecular, biochemical, and clinical findings from the pilot project. Information from initial screens, serum biotinidase activity level assays, molecular testing, and family history for 246 positive newborns screens were analyzed. A mutation spectrum was created for the province of Ontario, including common mutations such as D444H, D444H/A171T, Q456H, C33fs, and R157H. Individuals with partial deficiency were separated into 3 groups: D444H homozygotes (Group 1); compound heterozygotes for D444H with another profound allele (Group 2); compound heterozygotes with two non-D444H alleles (Group 3). Biochemical phenotype-genotype associations in partial deficiency showed a significant difference in serum biotinidase activity in between any given two groups. Three children with partial deficiency discontinued biotin for varied lengths of time. Two of whom became symptomatic with abnormal gait, alopecia, skin rashes and developmental delay. A need for more congruency in diagnostic, treatment and educational practices was highlighted across the province. Heterogeneity and variation in clinical presentations and management was observed in patients with the partial deficiency. [Mh] Termos MeSH primário: Deficiência de Biotinidase/enzimologia Deficiência de Biotinidase/genética Triagem Neonatal [Mh] Termos MeSH secundário: Alelos Amidoidrolases/genética Biotina/uso terapêutico Biotinidase/sangue Biotinidase/genética Deficiência de Biotinidase/diagnóstico Deficiência de Biotinidase/epidemiologia Criança Pré-Escolar Gerenciamento Clínico Feminino Estudos de Associação Genética Perda Auditiva/etiologia Heterozigoto Homozigoto Seres Humanos Lactente Recém-Nascido Masculino Mutação Ontário/epidemiologia Projetos Piloto [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 6SO6U10H04 (Biotin); EC 3.5.- (Amidohydrolases); EC 3.5.1.12 (Biotinidase) [Em] Mês de entrada: 1608 [Cu] Atualização por classe: 151109 [Lr] Data última revisão: 151109 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 150913 [St] Status: MEDLINE

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