Base de dados : MEDLINE
Pesquisa : C16.320.565.618 [Categoria DeCS]
Referências encontradas : 276 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 28 ir para página                         

  1 / 276 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
[PMID]:28002524
[Au] Autor:Scutariu MM; Salamastrakis I; Stan CI; Nedelcu AH; Gavril LC; Costea CF; Dumitrescu AM; Sava A; Sapte E
[Ad] Endereço:Department of Morphofunctional Sciences, "Grigore T. Popa" University of Medicine and Pharmacy, Iassy, Romania; dr.anca.sava.68@gmail.com.
[Ti] Título:Histopathological consequences of hyperzincemia on rat teeth. Experimental study.
[So] Source:Rom J Morphol Embryol;57(3):1057-1061, 2016.
[Is] ISSN:1220-0522
[Cp] País de publicação:Romania
[La] Idioma:eng
[Ab] Resumo:The aim of this study was to investigate the histopathological features of dental pulp in acute zinc (Zn) intoxication and to identify possible physiopathological mechanisms of the lesions. Twelve adult male Wistar rats were divided into two groups, the control one and the exposed group. Each animal from the experimental group received a single dose of zinc chloride (ZnCl2) by intraperitoneal injection. Blood samples were collected from exposed animals at 2, 4, and 6 hours after the injection and plasma Zn concentrations were determined by spectrophotometry. After six hours of observation, the animals were sacrificed and two teeth from every rat were removed. Twelve teeth were processed by standard histological technique using Hematoxylin-Eosin (HE) and Szekely trichrome stainings, and the other twelve were subjected to Schliff cutting-grinding technique. The experimental group showed increased plasma zinc concentration (0.46±0.06 mg÷L) after two hours and then slightly decreasing values in the next four hours. Undecalcified teeth did not showed any changing into the dentin or enamel structures, but decalcified teeth revealed numerous deposits into the dental pulp, which consisted of red acellular superposed sediments that could be made up of zinc with some plasma protein, or there could be an unknown compound which precipitated under the influence of zinc cation (Zn2+). We can presume that the dental pulp may be an elective place for zinc accretion and so it must be considered a potential target for this metal.
[Mh] Termos MeSH primário: Esmalte Dentário/patologia
Erros Inatos do Metabolismo dos Metais/complicações
Zinco/toxicidade
[Mh] Termos MeSH secundário: Animais
Masculino
Ratos
Ratos Wistar
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
J41CSQ7QDS (Zinc)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE


  2 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:27289259
[Au] Autor:Zaki MS; Selim L; El-Bassyouni HT; Issa MY; Mahmoud I; Ismail S; Girgis M; Sadek AA; Gleeson JG; Abdel Hamid MS
[Ad] Endereço:Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address: dr_mahazaki@yahoo.com.
[Ti] Título:Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
[So] Source:Eur J Paediatr Neurol;20(5):714-22, 2016 Sep.
[Is] ISSN:1532-2130
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase. The aim of this study was to elucidate the clinical, radiological, biochemical and molecular findings in patients with SOD and MoCD. METHODS: Detailed clinical and radiological assessment of 9 cases referred for neonatal encephalopathy with hypotonia, microcephaly, and epilepsy led to a consideration of disorders of sulfur-containing amino acid metabolism. The diagnosis of six with MoCD and three with SOD was confirmed by biochemical tests, targeted sequencing, and whole exome sequencing where suspicion of disease was lower. RESULTS: Novel SUOX mutations were detected in 3 SOD cases and a novel MOCS2 mutation in 1 MoCD case. Most patients presented in the first 3 months of life with intractable tonic-clonic seizures, axial hypotonia, limb hypertonia, exaggerated startle response, feeding difficulties, and progressive cystic encephalomalacia on brain imaging. A single patient with MoCD had hypertrophic cardiomyopathy, hitherto unreported with these diseases. INTERPRETATION: Our results emphasize that intractable neonatal seizures, spasticity, and feeding difficulties can be important early signs for these disorders. Progressive microcephaly, intellectual disability and specific brain imaging findings in the first year were additional diagnostic aids. These clinical cues can be used to minimize delays in diagnosis, especially since promising treatments are emerging for MoCD type A.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos
Erros Inatos do Metabolismo dos Metais
Sulfito Oxidase/deficiência
[Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Aminoácidos/genética
Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia
Coenzimas/genética
Egito
Seres Humanos
Recém-Nascido
Doenças do Recém-Nascido
Masculino
Erros Inatos do Metabolismo dos Metais/genética
Erros Inatos do Metabolismo dos Metais/fisiopatologia
Metaloproteínas/genética
Molibdoferredoxina/genética
Mutação
Fenótipo
Pteridinas
Sulfito Oxidase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Coenzymes); 0 (Metalloproteins); 0 (Molybdoferredoxin); 0 (Pteridines); 73508-07-3 (molybdenum cofactor); EC 1.8.3.1 (Sulfite Oxidase)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160613
[St] Status:MEDLINE


  3 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27145839
[Au] Autor:Landgraf BJ; McCarthy EL; Booker SJ
[Ad] Endereço:Department of Chemistry, The Pennsylvania State University, University Park, Pennsylvania 16802.
[Ti] Título:Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
[So] Source:Annu Rev Biochem;85:485-514, 2016 Jun 02.
[Is] ISSN:1545-4509
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Radical S-adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of approximately 114,000 of these enzymes, 8 are known to be present in humans: MOCS1, molybdenum cofactor biosynthesis; LIAS, lipoic acid biosynthesis; CDK5RAP1, 2-methylthio-N(6)-isopentenyladenosine biosynthesis; CDKAL1, methylthio-N(6)-threonylcarbamoyladenosine biosynthesis; TYW1, wybutosine biosynthesis; ELP3, 5-methoxycarbonylmethyl uridine; and RSAD1 and viperin, both of unknown function. Aberrations in the genes encoding these proteins result in a variety of diseases. In this review, we summarize the biochemical characterization of these 8 radical S-adenosylmethionine enzymes and, in the context of human health, describe the deleterious effects that result from such genetic mutations.
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 2/genética
Cardiopatias Congênitas/genética
Erros Inatos do Metabolismo dos Metais/genética
Mutação
Doenças Neurodegenerativas/genética
S-Adenosilmetionina/metabolismo
[Mh] Termos MeSH secundário: Diabetes Mellitus Tipo 2/enzimologia
Diabetes Mellitus Tipo 2/patologia
Expressão Gênica
Cardiopatias Congênitas/enzimologia
Cardiopatias Congênitas/patologia
Histona Acetiltransferases/genética
Histona Acetiltransferases/metabolismo
Seres Humanos
Peptídeos e Proteínas de Sinalização Intracelular/genética
Peptídeos e Proteínas de Sinalização Intracelular/metabolismo
Proteínas com Ferro-Enxofre/genética
Proteínas com Ferro-Enxofre/metabolismo
Erros Inatos do Metabolismo dos Metais/enzimologia
Erros Inatos do Metabolismo dos Metais/patologia
Proteínas do Tecido Nervoso/genética
Proteínas do Tecido Nervoso/metabolismo
Doenças Neurodegenerativas/enzimologia
Doenças Neurodegenerativas/patologia
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
Oxirredutases/genética
Oxirredutases/metabolismo
Proteínas/genética
Proteínas/metabolismo
Ácido Tióctico/metabolismo
tRNA Metiltransferases/genética
tRNA Metiltransferases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CDK5RAP1 protein, human); 0 (Intracellular Signaling Peptides and Proteins); 0 (Iron-Sulfur Proteins); 0 (MOCS1 protein, human); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins); 0 (Proteins); 0 (RSAD2 protein, human); 73Y7P0K73Y (Thioctic Acid); 7LP2MPO46S (S-Adenosylmethionine); EC 1.- (Oxidoreductases); EC 2.1.1.- (tRNA Methyltransferases); EC 2.3.1.48 (ELP3 protein, human); EC 2.3.1.48 (Histone Acetyltransferases); EC 2.8.4.5 (CDKAL1 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170524
[Lr] Data última revisão:
170524
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160506
[St] Status:MEDLINE
[do] DOI:10.1146/annurev-biochem-060713-035504


  4 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27138983
[Au] Autor:Jakubiczka-Smorag J; Santamaria-Araujo JA; Metz I; Kumar A; Hakroush S; Brueck W; Schwarz G; Burfeind P; Reiss J; Smorag L
[Ad] Endereço:Institute of Human Genetics, University Medical Center Goettingen, Heinrich-Dueker-Weg 12, 37073, Goettingen, Germany.
[Ti] Título:Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
[So] Source:Hum Genet;135(7):813-26, 2016 Jul.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Molybdenum cofactor (MoCo) deficiency is a rare, autosomal-recessive disorder, mainly caused by mutations in MOCS1 (MoCo deficiency type A) or MOCS2 (MoCo deficiency type B) genes; the absence of active MoCo results in a deficiency in all MoCo-dependent enzymes. Patients with MoCo deficiency present with neonatal seizures, feeding difficulties, severe developmental delay, brain atrophy and early childhood death. Although substitution therapy with cyclic pyranopterin monophosphate (cPMP) has been successfully used in both Mocs1 knockout mice and in patients with MoCo deficiency type A, there is currently no Mocs2 knockout mouse and no curative therapy for patients with MoCo deficiency type B. Therefore, we generated and characterized a Mocs2-null mouse model of MoCo deficiency type B. Expression analyses of Mocs2 revealed a ubiquitous expression pattern; however, at the cellular level, specific cells show prominent Mocs2 expression, e.g., neuronal cells in cortex, hippocampus and brainstem. Phenotypic analyses demonstrated that Mocs2 knockout mice failed to thrive and died within 11 days after birth. None of the tested MoCo-dependent enzymes were active in Mocs2-deficient mice, leading to elevated concentrations of purines, such as hypoxanthine and xanthine, and non-detectable levels of uric acid in the serum and urine. Moreover, elevated concentrations of S-sulfocysteine were measured in the serum and urine. Increased levels of xanthine resulted in bladder and kidney stone formation, whereas increased concentrations of toxic sulfite triggered neuronal apoptosis. In conclusion, Mocs2-deficient mice recapitulate the severe phenotype observed in humans and can now serve as a model for preclinical therapeutic approaches for MoCo deficiency type B.
[Mh] Termos MeSH primário: Coenzimas/genética
Erros Inatos do Metabolismo dos Metais/genética
Metaloproteínas/genética
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Animais
Apoptose/genética
Coenzimas/biossíntese
Cisteína/análogos & derivados
Cisteína/urina
Modelos Animais de Doenças
Expressão Gênica
Seres Humanos
Hipoxantina/sangue
Hipoxantina/urina
Erros Inatos do Metabolismo dos Metais/sangue
Erros Inatos do Metabolismo dos Metais/fisiopatologia
Erros Inatos do Metabolismo dos Metais/urina
Metaloproteínas/biossíntese
Camundongos
Camundongos Knockout
Mutação
Proteínas Nucleares/biossíntese
Fenótipo
Pteridinas
Xantina/sangue
Xantina/urina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Coenzymes); 0 (MOCS1 protein, human); 0 (Metalloproteins); 0 (Nuclear Proteins); 0 (Pteridines); 1AVZ07U9S7 (Xanthine); 2TN51YD919 (Hypoxanthine); 73508-07-3 (molybdenum cofactor); 885F2S42LL (S-sulphocysteine); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160504
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-016-1676-4


  5 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26861285
[Au] Autor:Wu X; Leegwater PA; Fieten H
[Ad] Endereço:Department of Clinical Sciences of Companion animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3584 CM Utrecht, The Netherlands. x.wu@uu.nl.
[Ti] Título:Canine Models for Copper Homeostasis Disorders.
[So] Source:Int J Mol Sci;17(2):196, 2016 Feb 04.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Copper is an essential trace nutrient metal involved in a multitude of cellular processes. Hereditary defects in copper metabolism result in disorders with a severe clinical course such as Wilson disease and Menkes disease. In Wilson disease, copper accumulation leads to liver cirrhosis and neurological impairments. A lack in genotype-phenotype correlation in Wilson disease points toward the influence of environmental factors or modifying genes. In a number of Non-Wilsonian forms of copper metabolism, the underlying genetic defects remain elusive. Several pure bred dog populations are affected with copper-associated hepatitis showing similarities to human copper metabolism disorders. Gene-mapping studies in these populations offer the opportunity to discover new genes involved in copper metabolism. Furthermore, due to the relatively large body size and long life-span of dogs they are excellent models for development of new treatment strategies. One example is the recent use of canine organoids for disease modeling and gene therapy of copper storage disease. This review addresses the opportunities offered by canine genetics for discovery of genes involved in copper metabolism disorders. Further, possibilities for the use of dogs in development of new treatment modalities for copper storage disorders, including gene repair in patient-derived hepatic organoids, are highlighted.
[Mh] Termos MeSH primário: Cobre/metabolismo
Modelos Animais de Doenças
Erros Inatos do Metabolismo dos Metais/etiologia
Erros Inatos do Metabolismo dos Metais/metabolismo
[Mh] Termos MeSH secundário: Animais
Terapia por Quelação
Mapeamento Cromossômico
Dietoterapia
Cães
Estudos de Associação Genética
Degeneração Hepatolenticular/genética
Degeneração Hepatolenticular/metabolismo
Degeneração Hepatolenticular/terapia
Homeostase
Seres Humanos
Erros Inatos do Metabolismo dos Metais/terapia
Transplante de Órgãos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
789U1901C5 (Copper)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160211
[St] Status:MEDLINE


  6 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26775885
[Au] Autor:Durousset C; Gay C; Magnin S; Acquaviva C; Patural H
[Ad] Endereço:Service de pédiatrie C, pôle Mère-Enfants, CHU de Saint-Étienne, 42023 Saint-Étienne, France.
[Ti] Título:[Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy].
[Ti] Título:Encéphalopathie néonatale grave liée à un défaut d'activité de la sulfite-oxydase par déficit en cofacteur molybdène..
[So] Source:Arch Pediatr;23(3):292-6, 2016 Mar.
[Is] ISSN:1769-664X
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Neonatal seizure incidence is approximately 3.5/1000 live births. Inborn metabolic diseases account for approximately 1-4% of neonatal seizure cases. Among them, the catabolism anomaly of sulfite to sulfate caused by sulfite oxidase or cofactor molybdenum deficiency (MoCD) is a rare metabolic disorder in which neurological damage is similar to that found in neonatal asphyxia. We report the case of a newborn child with a MoCD. Born of related parents, this child had intrauterine growth retardation predominating on size diagnosed in the third trimester of pregnancy. After an uneventful birth, he presented convulsions at the 12th hour of life, confirmed by an electroencephalogram. Anticonvulsants and adjuvant treatments were ineffective; the child then required intubation at day 5 of life. The initial biological assessment found an elevated blood lactate level and the chromatography of amino acids showed a significant decrease of cystine and the abnormal presence of sulfocysteine, suggestive of a lack of sulfite oxidase activity. The uric acid level measured secondarily was low, suggesting a MoCD. Brain MRI was performed at day 5 for diffuse ischemic injury of different ages. After limiting acute care, the child died at day 14 of life. The genetic study of the child found a homozygous mutation c.564+1G>A in the MOCS2 gene, confirming the diagnosis of MoCD, present in the heterozygous state in both parents. Investigations in a logical sequence quickly suggested the MoCD diagnosis in presence of a low plasma concentration of cysteine, the abnormal presence of sulfocysteine, and low uric acid levels. The diagnosis of sulfite oxidase deficiency was made. Until now, no treatment has proven effective but a new treatment appears to be effective in cases with a MOCS1 mutation.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/etiologia
Encefalopatias/etiologia
Erros Inatos do Metabolismo dos Metais/complicações
Sulfito Oxidase/deficiência
[Mh] Termos MeSH secundário: Seres Humanos
Recém-Nascido
Masculino
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.8.3.1 (Sulfite Oxidase)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170105
[Lr] Data última revisão:
170105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160119
[St] Status:MEDLINE


  7 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26653176
[Au] Autor:Atwal PS; Scaglia F
[Ad] Endereço:Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Center for Individualized Medicine FL, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
[Ti] Título:Molybdenum cofactor deficiency.
[So] Source:Mol Genet Metab;117(1):1-4, 2016 Jan.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Molybdenum cofactor deficiency (MoCD) is a severe autosomal recessive inborn error of metabolism first described in 1978. It is characterized by a neonatal presentation of intractable seizures, feeding difficulties, severe developmental delay, microcephaly with brain atrophy and coarse facial features. MoCD results in deficiency of the molybdenum cofactor dependent enzymes sulfite oxidase, xanthine dehydrogenase, aldehyde oxidase and mitochondrial amidoxime reducing component. The resultant accumulation of sulfite, taurine, S-sulfocysteine and thiosulfate contributes to the severe neurological impairment. Recently, initial evidence has demonstrated early treatment with cyclic PMP can turn MoCD type A from a previously neonatal lethal condition with only palliative options, to near normal neurological outcomes in affected patients. We review MoCD and focus on describing the currently published evidence of this exciting new therapeutic option for MoCD type A caused by pathogenic variants in MOCD1.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Metais
[Mh] Termos MeSH secundário: Aldeído Oxidase/deficiência
Cisteína/análogos & derivados
Cisteína/metabolismo
Seres Humanos
Erros Inatos do Metabolismo dos Metais/metabolismo
Erros Inatos do Metabolismo dos Metais/terapia
Compostos Organofosforados/uso terapêutico
Oximas/metabolismo
Pterinas/uso terapêutico
Sulfito Oxidase/deficiência
Sulfitos/metabolismo
Tiossulfatos/metabolismo
Xantina Desidrogenase/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Organophosphorus Compounds); 0 (Oximes); 0 (Pterins); 0 (Sulfites); 0 (Thiosulfates); 0 (amidoxime); 4X7K2681Y7 (cyclic pyranopterin monophosphate); 885F2S42LL (S-sulphocysteine); EC 1.17.1.4 (Xanthine Dehydrogenase); EC 1.2.3.1 (Aldehyde Oxidase); EC 1.8.3.1 (Sulfite Oxidase); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151215
[St] Status:MEDLINE


  8 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26644055
[Au] Autor:Nagappa M; Bindu PS; Taly AB; Sinha S; Bharath RD
[Ad] Endereço:From the Departments of Neurology (M.N., P.S.B., A.B.T., S.S.) and Neuro-Imaging and Interventional Radiology (R.D.B.), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
[Ti] Título:Child Neurology: Molybdenum cofactor deficiency.
[So] Source:Neurology;85(23):e175-8, 2015 Dec 08.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Metais/diagnóstico
Erros Inatos do Metabolismo dos Metais/metabolismo
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Masculino
Erros Inatos do Metabolismo dos Metais/genética
Neurologia
Convulsões/diagnóstico
Convulsões/genética
Convulsões/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1604
[Cu] Atualização por classe:151208
[Lr] Data última revisão:
151208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:151209
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000002194


  9 / 276 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26343841
[Au] Autor:Wilcken B
[Ad] Endereço:Sydney Children's Hospitals Network and University of Sydney, Sydney, NSW 2145, Australia. Electronic address: bridget.wilcken@health.nsw.gov.au.
[Ti] Título:Treatments for rare diseases: molybdenum cofactor deficiency.
[So] Source:Lancet;386(10007):1924-5, 2015 Nov 14.
[Is] ISSN:1474-547X
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Metais/tratamento farmacológico
Compostos Organofosforados/uso terapêutico
Pterinas/uso terapêutico
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:COMMENT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organophosphorus Compounds); 0 (Pterins)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:160204
[Lr] Data última revisão:
160204
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150908
[St] Status:MEDLINE


  10 / 276 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26343839
[Au] Autor:Schwahn BC; Van Spronsen FJ; Belaidi AA; Bowhay S; Christodoulou J; Derks TG; Hennermann JB; Jameson E; König K; McGregor TL; Font-Montgomery E; Santamaria-Araujo JA; Santra S; Vaidya M; Vierzig A; Wassmer E; Weis I; Wong FY; Veldman A; Schwarz G
[Ad] Endereço:Royal Hospital for Sick Children, NHS Greater Glasgow and Clyde, Glasgow, UK; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. Electronic address: bernd.schwahn@cmft.nhs.uk.
[Ti] Título:Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
[So] Source:Lancet;386(10007):1955-63, 2015 Nov 14.
[Is] ISSN:1474-547X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Molybdenum cofactor deficiency (MoCD) is characterised by early, rapidly progressive postnatal encephalopathy and intractable seizures, leading to severe disability and early death. Previous treatment attempts have been unsuccessful. After a pioneering single treatment we now report the outcome of the complete first cohort of patients receiving substitution treatment with cyclic pyranopterin monophosphate (cPMP), a biosynthetic precursor of the cofactor. METHODS: In this observational prospective cohort study, newborn babies with clinical and biochemical evidence of MoCD were admitted to a compassionate-use programme at the request of their treating physicians. Intravenous cPMP (80-320 µg/kg per day) was started in neonates diagnosed with MoCD (type A and type B) following a standardised protocol. We prospectively monitored safety and efficacy in all patients exposed to cPMP. FINDINGS: Between June 6, 2008, and Jan 9, 2013, intravenous cPMP was started in 16 neonates diagnosed with MoCD (11 type A and five type B) and continued in eight type A patients for up to 5 years. We observed no drug-related serious adverse events after more than 6000 doses. The disease biomarkers urinary S-sulphocysteine, xanthine, and urate returned to almost normal concentrations in all type A patients within 2 days, and remained normal for up to 5 years on continued cPMP substitution. Eight patients with type A disease rapidly improved under treatment and convulsions were either completely suppressed or substantially reduced. Three patients treated early remain seizure free and show near-normal long-term development. We detected no biochemical or clinical response in patients with type B disease. INTERPRETATION: cPMP substitution is the first effective therapy for patients with MoCD type A and has a favourable safety profile. Restoration of molybdenum cofactor-dependent enzyme activities results in a greatly improved neurodevelopmental outcome when started sufficiently early. The possibility of MoCD type A needs to be urgently explored in every encephalopathic neonate to avoid any delay in appropriate cPMP substitution, and to maximise treatment benefit. FUNDING: German Ministry of Education and Research; Orphatec/Colbourne Pharmaceuticals.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Metais/tratamento farmacológico
Compostos Organofosforados/uso terapêutico
Pterinas/uso terapêutico
[Mh] Termos MeSH secundário: Estudos de Coortes
Ensaios de Uso Compassivo
Esquema de Medicação
Feminino
Seres Humanos
Recém-Nascido
Masculino
Erros Inatos do Metabolismo dos Metais/diagnóstico
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Organophosphorus Compounds); 0 (Pterins); 4X7K2681Y7 (cyclic pyranopterin monophosphate)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150908
[St] Status:MEDLINE



página 1 de 28 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde