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[PMID]:29366749
[Au] Autor:Gonzalez EA; Martins GR; Tavares AMV; Viegas M; Poletto E; Giugliani R; Matte U; Baldo G
[Ad] Endereço:Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post-Graduation Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil.
[Ti] Título:Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice.
[So] Source:Life Sci;196:102-109, 2018 Mar 01.
[Is] ISSN:1879-0631
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder with multisystemic features, including heart enlargement, heart valve dysfunction, and aortic stiffness and dilatation. Previous studies have shown that MPS I mice overexpress cathepsin B (CtsB) in multiple tissues, including those from the cardiovascular system. Here, we hypothesized that inhibition of CtsB could ameliorate cardiac function parameters, as well as aorta and valve abnormalities found in MPS I. First, we found that total elastase activity in an MPS I aorta is elevated. Following that, we demonstrated that CtsB leaks from the lysosome in MPS I human fibroblasts, possibly acting as a degradative agent of extracellular matrix components from the aorta, cardiac muscle, and heart valves. We then used a CtsB inhibitor in vivo in the MPS I mouse model. After 4 months of treatment, partial inhibition of CtsB activity in treated mice reduced aortic dilatation, as well as heart valve thickening, and led to improvements in cardiac function parameters, although none of these were completely normalized. Based on these results, we conclude that lysosomal alterations in this disease promote leakage of CtsB to outside the organelle, where this protein can have multiple pathological roles. CtsB inhibition improved cardiovascular parameters in MPS I mice and can have a potential benefit in this disease.
[Mh] Termos MeSH primário: Sistema Cardiovascular/patologia
Catepsina B/antagonistas & inibidores
Inibidores de Cisteína Proteinase/uso terapêutico
Dipeptídeos/uso terapêutico
Mucopolissacaridose I/diagnóstico por imagem
Mucopolissacaridose I/tratamento farmacológico
[Mh] Termos MeSH secundário: Animais
Aorta/patologia
Aorta/fisiopatologia
Sistema Cardiovascular/diagnóstico por imagem
Catepsina B/metabolismo
Colagenases/metabolismo
Feminino
Fibroblastos/metabolismo
Testes de Função Cardíaca
Doenças das Valvas Cardíacas/diagnóstico por imagem
Doenças das Valvas Cardíacas/tratamento farmacológico
Doenças das Valvas Cardíacas/patologia
Seres Humanos
Lisossomos/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Mucopolissacaridose I/patologia
Elastase Pancreática/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cysteine Proteinase Inhibitors); 0 (Dipeptides); 134448-10-5 (N-(3-propylcarbamoyloxirane-2-carbonyl)-isoleucyl-proline); EC 3.4.21.36 (Pancreatic Elastase); EC 3.4.22.1 (Cathepsin B); EC 3.4.24.- (Collagenases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:29200150
[Au] Autor:Lukefahr AL; Proytcheva M
[Ad] Endereço:Department of Pathology, The University of Arizona College of Medicine, Tucson/Banner University Medical Center-Tucson, Tucson, AZ.
[Ti] Título:Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome.
[So] Source:J Pediatr Hematol Oncol;40(1):74-75, 2018 Jan.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysaccharidoses is the presence of numerous, dark lilac granules within lymphocytes, monocytes, and neutrophils, also known at Alder-Reilly anomaly. Here we describe intracytoplasmic granules with haloes in mononuclear cells present in the cerebrospinal fluid of a 2-year-old boy with the diagnosis of Hurler syndrome, undergoing pretransplant evaluation for an unrelated donor cord blood stem cell transplant.
[Mh] Termos MeSH primário: Líquido Cefalorraquidiano/citologia
Grânulos Citoplasmáticos/patologia
Leucócitos/patologia
Mucopolissacaridose I/complicações
[Mh] Termos MeSH secundário: Pré-Escolar
Evolução Fatal
Transplante de Células-Tronco Hematopoéticas
Seres Humanos
Leucócitos/ultraestrutura
Masculino
Mucopolissacaridose I/diagnóstico
Sepse
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180112
[Lr] Data última revisão:
180112
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000001041


  3 / 1215 MEDLINE  
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[PMID]:28923328
[Au] Autor:Duarte AJ; Ribeiro D; Oliveira P; Amaral O
[Ad] Endereço:Departamento de Genética Humana-Unidade I and D-P, CSPGF, Instituto Nacional de Saúde Ricardo Jorge (INSA, IP), Porto, Portugal.
[Ti] Título:Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
[So] Source:Arch Med Res;48(3):263-269, 2017 Apr.
[Is] ISSN:1873-5487
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence. The anonymous samples used in this study were representative of the whole population; mutations were tested by PCR based methods, positive results were further confirmed. The diseases studied were Mucopolysaccharidosis type I (Hurler, MIM 607014), Tay Sachs disease variant B1 (TS, MIM 272800) and Metachromatic Leukodystrophy (MLD, MIM 250100); the mutations were, respectively, p.W402X, p.R178C and c.465+1G>A. RESULTS AND CONCLUSION: Increased carrier frequencies were found for Tay Sachs disease variant B1 HEXA p.R178C mutation (1:340) and for the infantile MLD ARSA c.465+1G> A mutation (1:350) denoting higher risk for these sub-types of disease in Portugal and possibly in individuals of Iberian ancestry. Carrier screening in target populations may provide the foundations for more effective approaches to precision medicine.
[Mh] Termos MeSH primário: Leucodistrofia Metacromática/genética
Mucopolissacaridose I/genética
Doença de Tay-Sachs/genética
[Mh] Termos MeSH secundário: Alelos
Seres Humanos
Recém-Nascido
Mutação
Taxa de Mutação
Portugal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE


  4 / 1215 MEDLINE  
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[PMID]:28859139
[Au] Autor:Dornelles AD; Artigalás O; da Silva AA; Ardila DLV; Alegra T; Pereira TV; Vairo FPE; Schwartz IVD
[Ad] Endereço:Postgraduate Program in Genetics Applied to Medicine, Department of Pediatrics, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
[Ti] Título:Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
[So] Source:PLoS One;12(8):e0184065, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the efficacy and safety of IV laronidase for MPS I. METHODS: A systematic literature review was performed by searching the ClinicalTrials.gov, MEDLINE/PubMed, EMBASE, LILACS, and Cochrane Library databases, limited to clinical trials published until December 31, 2016. The first inclusion criterion was being a randomized controlled trial (RCT). If < five RCTs were identified, open-label and nonrandomized trials, controlled or uncontrolled (quasi-experimental), including ≥ five patients, and evaluating relevant outcomes defined a priori, would also be included. For meta-analysis, primary inferences were based on random-effects models. Assessment of article quality was performed in accordance with the GRADE criteria. The Cochrane Risk of Bias tool was used to examine the risk of bias for RCTs. RESULTS: The selection phase retrieved 632 articles. During the first phase of selection, 158 had the abstract or full text read for assessment of eligibility, of which nine (two RCTs) were included for qualitative synthesis. Four papers were included in the meta-analysis, which was performed for the following outcomes: occurrence of treatment-emergent or infusion-related adverse events (65%; 95%CI 53, 76), mild in most cases; development of IgG antibodies to laronidase (88%; 95%CI 67, 100); apnea-hypopnea index (not significant-NS), urinary glycosaminoglycans (GAGs) [mean change -65.5 µg/mg creatinine (95%CI -68.8, -62.3)], liver size [mean change -31.03% (95%CI -36.1, -25.9)], left ventricular mass index (LVMI) [mean change -1.8 (95%CI -2.32, -0.25)], and distance covered in the 6-minute walk test (NS). Among the outcomes not included in meta-analysis, we found evidence for benefit of laronidase only on shoulder flexion. CONCLUSIONS: Our findings suggest that IV laronidase effectively reduces urinary GAGs excretion, hepatomegaly and LVMI, and can improve shoulder flexion in MPS I patients. Laronidase appears to be safe in the studied population.
[Mh] Termos MeSH primário: Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia
Iduronidase/uso terapêutico
Mucopolissacaridose I/tratamento farmacológico
[Mh] Termos MeSH secundário: Administração Intravenosa
Ensaios Clínicos como Assunto
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/classificação
Terapia de Reposição de Enzimas
Seres Humanos
Iduronidase/efeitos adversos
Mucopolissacaridose I/fisiopatologia
Qualidade de Vida
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0184065


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[PMID]:28604952
[Au] Autor:Yang X; Mei S; Kong X; Zhao Z; Cai A; Yao J; Li Y; Qin Z
[Ad] Endereço:Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
[Ti] Título:[IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(3):347-351, 2017 Jun 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them. METHODS: The 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing. RESULTS: For pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation. CONCLUSION: Mutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.
[Mh] Termos MeSH primário: Doenças Fetais/genética
Iduronidase/genética
Mucopolissacaridose I/genética
Deleção de Sequência
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Sequência de Bases
Criança
Pré-Escolar
China
Análise Mutacional de DNA
Feminino
Doenças Fetais/diagnóstico
Heterozigoto
Seres Humanos
Masculino
Dados de Sequência Molecular
Mucopolissacaridose I/diagnóstico
Mucopolissacaridose I/embriologia
Linhagem
Gravidez
Diagnóstico Pré-Natal
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.76 (IDUA protein, human); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.03.007


  6 / 1215 MEDLINE  
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[PMID]:28352175
[Au] Autor:Fraga M; de Carvalho TG; Bidone J; Schuh RS; Matte U; Teixeira HF
[Ad] Endereço:Pharmaceutical Sciences Graduate Program, Universidade Federal do Rio Grande do Sul; Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre.
[Ti] Título:Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model.
[So] Source:Int J Nanomedicine;12:2061-2067, 2017.
[Is] ISSN:1178-2013
[Cp] País de publicação:New Zealand
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type I (MPS I) is an autosomal disease caused by alpha-l-iduronidase (IDUA) deficiency. This study used knockout mice as a model to evaluate whether parameters such as dose of plasmid and time of treatment could influence the transfection efficiency of complexes formed with PEGylated cationic nanoemulsions and plasmid (pIDUA), which contains the gene that encodes for IDUA. Formulations were composed of medium chain triglycerides, 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine, 1,2-distearoyl- -glycero-3-phosphoethanolamine- -(amino[polyethylene glycol]-2000), 1,2-dioleoyl-sn-glycero-3-trimethylammonium propane (DOTAP), glycerol, and water and were prepared by the adsorption or encapsulation of preformed pIDUA-DOTAP complexes by high-pressure homogenization. A progressive increase in expression was observed with an increase in the dose and time of transfection for mice treated with both complexes (adsorbed and encapsulated), especially in the liver. Regardless of the complex administered, a significant increase in IDUA activity was detected in lungs and liver compared with nontreated MPS I when a dose of 60 µg was administered and IDUA activity was measured 7 days postadministration. Tissue sections of major organs showed no presence of cell necrosis, inflammatory infiltrate, or an increase in apoptosis. Furthermore, immunohistochemistry for CD68 showed no difference in the number of macrophage cells in treated and nontreated animals, indicating the absence of inflammatory reaction caused by the treatment. The data set obtained in this study allowed establishing that factors such as dose and time can influence transfection efficiency in different degrees and that these complexes did not lead to any lethal effect in the MPS I murine model used.
[Mh] Termos MeSH primário: Emulsões/química
Iduronidase/metabolismo
Mucopolissacaridose I/metabolismo
Nanopartículas/química
Plasmídeos/metabolismo
Transfecção
[Mh] Termos MeSH secundário: Animais
Antígenos CD/metabolismo
Antígenos de Diferenciação Mielomonocítica/metabolismo
Modelos Animais de Doenças
Seres Humanos
Imuno-Histoquímica
Camundongos
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Antigens, Differentiation, Myelomonocytic); 0 (CD68 antigen, human); 0 (Emulsions); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170330
[St] Status:MEDLINE
[do] DOI:10.2147/IJN.S121558


  7 / 1215 MEDLINE  
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[PMID]:28283844
[Au] Autor:Lum SH; Stepien KM; Ghosh A; Broomfield A; Church H; Mercer J; Jones S; Wynn R
[Ad] Endereço:Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Oxford Rd, Manchester, M13 9WL, UK.
[Ti] Título:Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.
[So] Source:J Inherit Metab Dis;40(3):455-460, 2017 May.
[Is] ISSN:1573-2665
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF). Twelve were alive-and-engrafted after second HSCT. The overall survival at one year and 20-years was the same at 73.7%. Six children were followed up at the referral centers and excluded from cardiopulmonary endpoint review. Of the 33 evaluable children for the cardiopulmonary endpoints, nine (27.3%) had normal cardiac assessment. Of the four children on angiotensin-converting-enzyme inhibitors, two had mild cardiomyopathy and two had aortic valvular replacement. Twenty (60%) had mild/moderate mitral and/or aortic insufficiencies. Two had overnight hypoxia needing nocturnal non-invasive support. Enzyme level and donor chimerism are important predictors of long-term cardiac outcome.
[Mh] Termos MeSH primário: Cardiopatias/etiologia
Pneumopatias/etiologia
Mucopolissacaridose I/complicações
Mucopolissacaridose I/mortalidade
[Mh] Termos MeSH secundário: Pré-Escolar
Feminino
Doença Enxerto-Hospedeiro/mortalidade
Cardiopatias/mortalidade
Cardiopatias/patologia
Transplante de Células-Tronco Hematopoéticas
Seres Humanos
Lactente
Pneumopatias/mortalidade
Masculino
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170312
[St] Status:MEDLINE
[do] DOI:10.1007/s10545-017-0034-6


  8 / 1215 MEDLINE  
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[PMID]:28279069
[Au] Autor:Boado RJ; Pardridge WM
[Ad] Endereço:ArmaGen, Inc. , Calabasas, California 91302, United States.
[Ti] Título:Brain and Organ Uptake in the Rhesus Monkey in Vivo of Recombinant Iduronidase Compared to an Insulin Receptor Antibody-Iduronidase Fusion Protein.
[So] Source:Mol Pharm;14(4):1271-1277, 2017 Apr 03.
[Is] ISSN:1543-8392
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-l-iduronidase (IDUA), and patients with MPSI are currently treated with IDUA enzyme replacement therapy (ERT). However, the majority of MPSI patients have severe CNS involvement, and conventional ERT does not treat the brain. The failure of ERT to treat the brain is believed to be due to the lack of IDUA transport through the blood-brain barrier (BBB). However, BBB transport of IDUA has not been directly measured, to date. BBB transport of IDUA may be enhanced by fusion of the enzyme to a monoclonal antibody (mAb) against the human insulin receptor (HIR). The HIRMAb binds the insulin receptor on the BBB to trigger transport into the brain and acts as a molecular Trojan horse to deliver IDUA to brain cells. Therefore, the purpose of the present investigation was to compare, side-by-side, the BBB transport of IDUA alone and the HIRMAb-IDUA fusion protein in the Rhesus monkey in vivo. Each protein was radio-iodinated by conjugation with the [ I]-Bolton-Hunter reagent and injected intravenously (IV) in the primate. The uptake by brain, and peripheral organs, was measured by whole body autoradiography. The results show there is no transport of IDUA alone into the brain, but that the brain uptake of the HIRMAb-IDUA fusion protein is high, 1.2% injected dose/brain. There is comparable uptake of the IDUA and the HIRMAb-IDUA fusion protein by peripheral organs, where uptake is primarily controlled by the mannose 6-phosphate receptor. The work suggests that treatment of MPSI with the HIRMAb-IDUA fusion protein will be as effective as IDUA in peripheral organs, but offer the benefit of treatment of the central nervous system in MPSI.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/metabolismo
Antígenos CD/metabolismo
Encéfalo/metabolismo
Iduronidase/metabolismo
Receptor de Insulina/metabolismo
Proteínas Recombinantes de Fusão/metabolismo
[Mh] Termos MeSH secundário: Animais
Barreira Hematoencefálica/metabolismo
Seres Humanos
Macaca mulatta
Mucopolissacaridose I/metabolismo
Receptor IGF Tipo 2/metabolismo
Succinimidas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Antigens, CD); 0 (Receptor, IGF Type 2); 0 (Recombinant Fusion Proteins); 0 (Succinimides); 65114-37-6 (Bolton-Hunter reagent); EC 2.7.10.1 (INSR protein, human); EC 2.7.10.1 (Receptor, Insulin); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.1021/acs.molpharmaceut.6b01166


  9 / 1215 MEDLINE  
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[PMID]:28211988
[Au] Autor:Nestrasil I; Shapiro E; Svatkova A; Dickson P; Chen A; Wakumoto A; Ahmed A; Stehel E; McNeil S; Gravance C; Maher E
[Ad] Endereço:University of Minnesota, Minneapolis, Minnesota.
[Ti] Título:Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.
[So] Source:Am J Med Genet A;173(3):780-783, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline. Neuropsychological testing and MRIs were performed twice prior (baseline, at 1 year) and twice after initiating IT rhIDU (at 2nd and 3rd years). The difference between pre- and post-treatment means was evaluated as a percentage of the change. Neurocognitive performance improved particularly in memory tests and resulted in improved school performance after IT rhIDU treatment. White matter (WM) integrity improved together with an increase of WM and corpus callosum volumes. Hippocampal and gray matter volume decreased which may either parallel reduction of glycosaminoglycan storage or reflect typical longitudinal brain changes in early adulthood. In conclusion, our outcomes suggest neurological benefits of IT rhIDU compared to the intravenous administration on brain structure and function in a single MPS IA patient.© 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Disfunção Cognitiva/tratamento farmacológico
Terapia de Reposição de Enzimas
Iduronidase/administração & dosagem
Mucopolissacaridose I/tratamento farmacológico
Mucopolissacaridose I/psicologia
[Mh] Termos MeSH secundário: Terapia de Reposição de Enzimas/efeitos adversos
Terapia de Reposição de Enzimas/métodos
Seres Humanos
Iduronidase/efeitos adversos
Injeções Espinhais
Imagem por Ressonância Magnética
Masculino
Mucopolissacaridose I/diagnóstico
Testes Neuropsicológicos
Fenótipo
Resultado do Tratamento
Substância Branca/efeitos dos fármacos
Substância Branca/patologia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38073


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Texto completo
[PMID]:28171706
[Au] Autor:Saville JT; Thai HN; Lehmann RJ; Derrick-Roberts AL; Fuller M
[Ad] Endereço:Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.
[Ti] Título:Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet.
[So] Source:J Neurochem;141(2):287-295, 2017 Apr.
[Is] ISSN:1471-4159
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Gangliosides are the most complex oligosaccharide-containing glycosphingolipids defined by the presence of sialic acid and although present in all tissues, predominate in the brain. Considering their importance in neural development, it is unsurprising that ganglioside metabolism is altered in neurodegenerative diseases. The severe form of mucopolysaccharidosis type I, Hurler syndrome (HS), is characterised by progressive loss of neuronal function through largely undefined mechanisms. Here, we sought to interrogate brain gangliosides in a murine model of HS and further, assessed whether dietary modulation of lipid metabolism effected correction of the metabolic abnormalities. The simple gangliosides, G , G , G and G were elevated in the five subregions examined - brain stem, cerebellum, cortex, hippocampus, subcortex - in HS mice as early as 2 months of age compared with their wild type counterparts. Their elevation persisted at 6 months of age, imparting protracted neurological development as these simple gangliosides have usually subsided by this stage of brain development. Their immediate synthetic precursor, lactosylceramide, was also elevated, suggesting that their increase arises at this metabolic intermediary, as dihydroceramide, ceramide and monohexosylceramide were unaffected. Dietary linoleic acid supplementation significantly reduced G and G , and furthermore, improved exploratory behaviour as assessed by the open field test, highlighting the possibility of further exploring dietary intervention as a therapeutic consideration.
[Mh] Termos MeSH primário: Encéfalo/metabolismo
Dieta/métodos
Glicoesfingolipídeos/metabolismo
Ácido Linoleico/administração & dosagem
Mucopolissacaridose I/dietoterapia
Mucopolissacaridose I/metabolismo
[Mh] Termos MeSH secundário: Animais
Encéfalo/efeitos dos fármacos
Ácidos Graxos Essenciais/administração & dosagem
Feminino
Glicoesfingolipídeos/antagonistas & inibidores
Locomoção/efeitos dos fármacos
Locomoção/fisiologia
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fatty Acids, Essential); 0 (Glycosphingolipids); 9KJL21T0QJ (Linoleic Acid)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1111/jnc.13976



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