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  1 / 1960 MEDLINE  
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[PMID]:28741461
[Au] Autor:Griffin LS; Gloster TM
[Ad] Endereço:Biomedical Sciences Research Complex, North Haugh, University of St. Andrews, St. Andrews, KY16 9ST. United Kingdom.
[Ti] Título:The Enzymatic Degradation of Heparan Sulfate.
[So] Source:Protein Pept Lett;24(8):710-722, 2017.
[Is] ISSN:1875-5305
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Glycosaminoglycans (GAGs) such as heparan sulfate (HS) interact with a number of factors in the extracellular matrix (ECM) and as a consequence play a key role in the metabolic processes occurring within the cell. The dynamic synthesis and degradation of HS (and all GAGs) are necessary for ensuring that optimal chains are present for these functions. The degradation of HS begins at the cell surface and finishes in the lysosome, after which components can be recycled. Deficiencies or mutations in the lysosomal enzymes that process GAGs result in rare Mucopolysaccharidoses disorders (MPSs). There are few treatments available for these genetically inherited diseases and those that are available often do not treat the neurological symptoms of the disease. In this review, we discuss the enzymes involved in the degradation of HS and their related diseases, with emphasis on those located in the lysosome.
[Mh] Termos MeSH primário: Matriz Extracelular/enzimologia
Heparitina Sulfato/metabolismo
Lisossomos/enzimologia
Mucopolissacaridoses/enzimologia
[Mh] Termos MeSH secundário: Sequência de Carboidratos
Expressão Gênica
Glicosídeo Hidrolases/deficiência
Glicosídeo Hidrolases/genética
Seres Humanos
Lisossomos/patologia
Mucopolissacaridoses/genética
Mucopolissacaridoses/patologia
Sulfatases/deficiência
Sulfatases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9050-30-0 (Heparitin Sulfate); EC 3.1.6.- (Sulfatases); EC 3.2.1.- (Glycoside Hydrolases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.2174/0929866524666170724113452


  2 / 1960 MEDLINE  
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[PMID]:28860391
[Au] Autor:Williams N; Challoumas D; Ketteridge D; Cundy PJ; Eastwood DM
[Ad] Endereço:University of Adelaide, 72 King William St, North Adelaide, Australia.
[Ti] Título:The mucopolysaccharidoses: advances in medical care lead to challenges in orthopaedic surgical care.
[So] Source:Bone Joint J;99-B(9):1132-1139, 2017 Sep.
[Is] ISSN:2049-4408
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS. The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment. Cite this article: 2017;99-B:1132-9.
[Mh] Termos MeSH primário: Mucopolissacaridoses/complicações
Mucopolissacaridoses/diagnóstico
Mucopolissacaridoses/terapia
Doenças Musculoesqueléticas/diagnóstico
Doenças Musculoesqueléticas/etiologia
Doenças Musculoesqueléticas/cirurgia
Procedimentos Ortopédicos
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170902
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.99B9.BJJ-2017-0487


  3 / 1960 MEDLINE  
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[PMID]:28428354
[Au] Autor:Liu Y; Yi F; Kumar AB; Kumar Chennamaneni N; Hong X; Scott CR; Gelb MH; Turecek F
[Ad] Endereço:Departments of Chemistry.
[Ti] Título:Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
[So] Source:Clin Chem;63(6):1118-1126, 2017 Jun.
[Is] ISSN:1530-8561
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL). METHODS: New substrates were prepared and characterized for tripeptidyl peptidase 1 (TPP1), α- -acetylglucosaminidase (NAGLU), and lysosomal ß-glucuronidase (GUSB). These assays were combined with previously developed assays to provide a multiplex LC-MS/MS assay of 7 lysosomal storage diseases. Multiple reaction monitoring of ion dissociations for enzyme products and deuterium-labeled internal standards was used to quantify the enzyme activities. RESULTS: Deidentified DBS samples from 62 nonaffected newborns were analyzed to simultaneously determine (run time 2 min per DBS) the activities of TPP1, NAGLU, and GUSB, along with those for α-iduronidase (IDUA), iduronate-2-sulfatase (I2S), -acetylgalactosamine-6-sulfatase (GALNS), and -acetylgalactosamine-4-sulfatase (ARSB). The activities measured in the 7-plex format showed assay response-to-blank-activity ratios (analytical ranges) of 102-909 that clearly separated healthy infants from affected children. CONCLUSIONS: The new multiplex assay provides a robust comprehensive newborn screening assay for the mucopolysaccharidoses. The method has been expanded to include additional lysosomal storage diseases.
[Mh] Termos MeSH primário: Teste em Amostras de Sangue Seco/métodos
Doenças por Armazenamento dos Lisossomos/enzimologia
Mucopolissacaridoses/metabolismo
Triagem Neonatal/métodos
Lipofuscinoses Ceroides Neuronais/enzimologia
[Mh] Termos MeSH secundário: Cromatografia Líquida
Seres Humanos
Recém-Nascido
Doenças por Armazenamento dos Lisossomos/sangue
Doenças por Armazenamento dos Lisossomos/diagnóstico
Mucopolissacaridoses/sangue
Lipofuscinoses Ceroides Neuronais/sangue
Lipofuscinoses Ceroides Neuronais/diagnóstico
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170422
[St] Status:MEDLINE
[do] DOI:10.1373/clinchem.2016.269167


  4 / 1960 MEDLINE  
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[PMID]:28294991
[Au] Autor:Wang RY; Rudser KD; Dengel DR; Braunlin EA; Steinberger J; Jacobs DR; Sinaiko AR; Kelly AS
[Ad] Endereço:Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA 92868, USA. rawang@choc.org.
[Ti] Título:The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls.
[So] Source:Int J Mol Sci;18(3), 2017 Mar 15.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Treatments for mucopolysaccharidoses (MPSs) have increased longevity, but cardiovascular disease causes mortality in a significant percentage of survivors. Markers must be developed to predict MPS cardiac risk and monitor efficacy of investigational therapies.MPS patients underwent carotid artery ultrasonography from which carotid intima-media thickness (cIMT) and three measures of arterial stiffness were calculated: carotid artery distensibility (cCSD), compliance (cCSC), and incremental elastic modulus (cIEM). MPS carotid measurements were compared to corresponding data from pediatric and adult healthy cohorts. 33 MPS patients (17 MPS I, 9 MPS II, 4 MPS IIIA, and 3 MPS VI; mean age 12.5 ± 4.7 years), 560 pediatric controls (age 13.1 ± 4.0 years), and 554 adult controls (age 39.2 ± 2.2 years) were studied. Age and sex-adjusted aggregate MPS cIMT (0.56 ± 0.05 mm) was significantly greater than both pediatric (+0.12 mm; 95% CI +0.10 to +0.14 mm) and adult (+0.10 mm; 95% CI +0.06 to +0.14 mm) control cohorts; similar findings were observed for all MPS subtypes. Mean MPS cIMT approximated the 80th percentile of the adult cohort cIMT. MPS patients also demonstrated significantly increased adjusted arterial stiffness measurements, evidenced by reduced cCSD, cCSC, and increased cIEM, compared to pediatric and adult control cohorts. Regardless of treatment, MPS patients demonstrate increased cIMT and arterial stiffness compared to healthy pediatric and adult controls. These data suggest that relatively young MPS patients demonstrate a "structural vascular age" of at least 40 years old.
[Mh] Termos MeSH primário: Espessura Intima-Media Carotídea
Mucopolissacaridoses/patologia
Mucopolissacaridoses/fisiopatologia
Rigidez Vascular
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Pressão Sanguínea
Estudos de Casos e Controles
Criança
Feminino
Seres Humanos
Masculino
Mucopolissacaridoses/diagnóstico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE


  5 / 1960 MEDLINE  
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[PMID]:28170539
[Au] Autor:Javed A; Aslam T; Jones SA; Ashworth J
[Ad] Endereço:Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester, United Kingdom.
[Ti] Título:Objective Quantification of Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.
[So] Source:Invest Ophthalmol Vis Sci;58(2):954-958, 2017 Feb 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: We determine objective changes in corneal opacification levels over time in patients with mucopolysaccharidoses (MPS) treated with enzyme replacement therapy or hematopoietic stem cell transplant. A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy). Methods: Quantification of corneal clouding using the Iris camera and full ophthalmic examination, including subjective assessment of corneal clouding, was done in 2011 and repeated in 2015/2016. Patients also had assessment of biomarkers, including dermatan sulfate/chondroitin sulfate (DS/CS) ratio. Change in corneal opacification were measured by Iris camera corneal opacification measure (COM) score during a mean of 60 months follow-up. Results: A total of 5/17 (29%) eyes had a deterioration in COM score, indicating increased corneal clouding. There was no significant change in COM score in 10/17 (59%) patient eyes. One patient (2/17 eyes) demonstrated significant improvement in corneal clarity and this was associated with improved biomarker levels. Conclusions: Assessment of COM scores using the Iris camera are an objective means of monitoring corneal opacification over time in patients with MPS. Corneal opacification may potentially be reversed with intensive treatment demonstrated by impact on biomarkers.
[Mh] Termos MeSH primário: Córnea/patologia
Opacidade da Córnea/diagnóstico
Mucopolissacaridoses/complicações
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Opacidade da Córnea/etiologia
Progressão da Doença
Terapia de Reposição de Enzimas/métodos
Feminino
Seguimentos
Transplante de Células-Tronco Hematopoéticas/métodos
Seres Humanos
Masculino
Mucopolissacaridoses/diagnóstico
Mucopolissacaridoses/terapia
Estudos Prospectivos
Fatores de Tempo
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20647


  6 / 1960 MEDLINE  
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[PMID]:28081172
[Au] Autor:Wasielica-Poslednik J; Politino G; Schmidtmann I; Lorenz K; Bell K; Pfeiffer N; Pitz S
[Ad] Endereço:Department of Ophthalmology, University Medical Center, Johannes Gutenberg- University Mainz, Germany.
[Ti] Título:Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases.
[So] Source:PLoS One;12(1):e0168698, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: To investigate an influence of mucopolysaccharidosis (MPS)- and Morbus Fabry-associated corneal opacities on intraocular pressure (IOP) measurements and to evaluate the concordance of the different tonometry methods. METHODS: 25 MPS patients with or without corneal clouding, 25 Fabry patients with cornea verticillata ≥ grade 2 and 25 healthy age matched controls were prospectively included into this study. Outcome measures: Goldmann applanation tonometry (GAT); palpatory assessment of IOP; Goldmann-correlated intraocular pressure (IOPg), corneal-compensated intraocular pressure (IOPcc), corneal resistance factor (CRF) and corneal hysteresis (CH) assessed by Ocular Response Analyzer (ORA); central corneal thickness (CCT) and density assessed with Pentacam. Statistical analysis was performed using linear mixed effect models and Spearman correlation coefficients. The concordance between tonometry methods was assessed using Bland-Altman analysis. RESULTS: There was no relevant difference between study groups regarding median GAT, IOPg, IOPcc and CCT measurements. The limits of agreement between GAT and IOPcc/IOPg/palpatory IOP in MPS were: [-11.7 to 12.1mmHg], [-8.6 to 15.5 mmHg] and [- 5.4 to 10.1 mmHg] respectively. Limits of agreement were less wide in healthy subjects and Fabry patients. Palpatory IOP was higher in MPS than in healthy controls and Fabry patients. Corneal opacity correlated more strongly with GAT, IOPg, CH, CRF, CCT and corneal density in MPS (r = 0.4, 0.5, 0.5, 0.7, 0.6, 0.6 respectively) than in Fabry patients (r = 0.3, 0.2, -0.03, 0.1, 0.3, -0.2 respectively). In contrast, IOPcc revealed less correlation with corneal opacity than GAT in MPS (r = 0.2 vs. 0.4). CONCLUSIONS: ORA and GAT render less comparable IOP-values in patients suffering from MPS-associated corneal opacity in comparison to Fabry and healthy controls. The IOP seems to be overestimated in opaque MPS-affected corneas. GAT, IOPg and biomechanical parameters of the cornea correlate more strongly with the corneal clouding than IOPcc in MPS patients. TRIAL REGISTRATION: ClinicalTrials.gov NCT01695161.
[Mh] Termos MeSH primário: Córnea
Opacidade da Córnea
Pressão Intraocular
Mucopolissacaridoses
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Córnea/patologia
Córnea/fisiopatologia
Opacidade da Córnea/etiologia
Opacidade da Córnea/patologia
Opacidade da Córnea/fisiopatologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Mucopolissacaridoses/complicações
Mucopolissacaridoses/patologia
Mucopolissacaridoses/fisiopatologia
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170113
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0168698


  7 / 1960 MEDLINE  
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[PMID]:28070903
[Au] Autor:Borgia F; Pezzullo E; Schiano Lomoriello V; Sorrentino R; Lo Iudice F; Cocozza S; Della Casa R; Parenti G; Strisciuglio P; Trimarco B; Galderisi M
[Ad] Endereço:Department Advanced Biomedical Sciences, Federico II University Hospital, Naples, Italy.
[Ti] Título:Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.
[So] Source:Echocardiography;34(2):240-249, 2017 Feb.
[Is] ISSN:1540-8175
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders caused by deficiency of required glycosaminoglycans breakdown enzymes, inducing cardiac involvement. Little is known about myocardial deformation involvement in MPS. Our aim was to assess biventricular structure and function in asymptomatic children with MPS using standard echo Doppler and 2D speckle tracking (STE). METHODS: Fifteen MPS children (one type I, six type II, three type III A, one III B, three IV A, one VI), asymptomatic for cardiac symptoms, and 15 age and sex-matched healthy controls underwent echo Doppler and STE. Left ventricular (LV) wall thicknesses, diameters, and mass were normalized by z-score. LV global longitudinal strain (GLS), global circumferential strain (GCS), global radial strain (GRS) at papillary muscles, LV twisting, and right ventricular (RV) GLS were measured. RESULTS: The two groups were comparable for body mass index, heart rate, and blood pressure. LV mass index and relative wall thickness were higher in MPS. Ejection fraction (EF), and s' velocity did not differ between the two groups. E/A ratio was lower and E/e' higher in MPS. Tricuspid annular plane systolic excursion, RV s' and e' were lower in MPS. LV GLS did not differ between the two groups, but GCS (P=.014), GRS (P=.023), twisting (P=.012), and RV GLS (P<.001) were lower in the MPS group. CONCLUSIONS: LV strain abnormalities are detectable in MPS pediatric patients, independently of MPS type, when EF is still normal. RV GLS is also involved consensually with TAPSE reduction. STE can be useful for detection of subclinical myocardial damage in MPS.
[Mh] Termos MeSH primário: Ecocardiografia
Mucopolissacaridoses/complicações
Disfunção Ventricular/complicações
Disfunção Ventricular/diagnóstico por imagem
[Mh] Termos MeSH secundário: Criança
Ecocardiografia Doppler
Feminino
Ventrículos do Coração/diagnóstico por imagem
Ventrículos do Coração/fisiopatologia
Seres Humanos
Masculino
Mucopolissacaridoses/fisiopatologia
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.1111/echo.13444


  8 / 1960 MEDLINE  
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[PMID]:28065440
[Au] Autor:Kubaski F; Suzuki Y; Orii K; Giugliani R; Church HJ; Mason RW; Dung VC; Ngoc CT; Yamaguchi S; Kobayashi H; Girisha KM; Fukao T; Orii T; Tomatsu S
[Ad] Endereço:Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Biological Sciences, University of Delaware, Newark, DE, United States; INAGEMP, Porto Alegre, Brazil.
[Ti] Título:Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
[So] Source:Mol Genet Metab;120(3):247-254, 2017 Mar.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tandem mass spectrometry (MS/MS) have been established to measure GAGs in serum or plasma from MPS and ML patients, but few studies were performed to determine whether these assays are sufficiently robust to measure GAG levels in dried blood spots (DBS) of patients with MPS and ML. MATERIAL AND METHODS: In this study, we evaluated GAG levels in DBS samples from 124 MPS and ML patients (MPS I=16; MPS II=21; MPS III=40; MPS IV=32; MPS VI=10; MPS VII=1; ML=4), and compared them with 115 age-matched controls. Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II. Subsequently, dermatan sulfate (DS), heparan sulfate (HS-0S, HS-NS), and keratan sulfate (mono-sulfated KS, di-sulfated KS, and ratio of di-sulfated KS in total KS) were measured by MS/MS. RESULTS: Untreated patients with MPS I, II, VI, and ML had higher levels of DS compared to control samples. Untreated patients with MPS I, II, III, VI, and ML had higher levels of HS-0S; and untreated patients with MPS II, III and VI and ML had higher levels of HS-NS. Levels of KS were age dependent, so although levels of both mono-sulfated KS and di-sulfated KS were generally higher in patients, particularly for MPS II and MPS IV, age group numbers were not sufficient to determine significance of such changes. However, the ratio of di-sulfated KS in total KS was significantly higher in all MPS patients younger than 5years old, compared to age-matched controls. MPS I and VI patients treated with HSCT had normal levels of DS, and MPS I, VI, and VII treated with ERT or HSCT had normal levels of HS-0S and HS-NS, indicating that both treatments are effective in decreasing blood GAG levels. CONCLUSION: Measurement of GAG levels in DBS is useful for diagnosis and potentially for monitoring the therapeutic efficacy in MPS.
[Mh] Termos MeSH primário: Teste em Amostras de Sangue Seco/métodos
Glicosaminoglicanos/sangue
Mucolipidoses/diagnóstico
Mucopolissacaridoses/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Criança
Pré-Escolar
Cromatografia Líquida
Dermatan Sulfato/sangue
Feminino
Heparitina Sulfato/sangue
Seres Humanos
Lactente
Recém-Nascido
Sulfato de Ceratano/sangue
Masculino
Mucolipidoses/metabolismo
Mucopolissacaridoses/metabolismo
Sensibilidade e Especificidade
Espectrometria de Massas em Tandem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycosaminoglycans); 24967-94-0 (Dermatan Sulfate); 9050-30-0 (Heparitin Sulfate); 9056-36-4 (Keratan Sulfate)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170110
[St] Status:MEDLINE


  9 / 1960 MEDLINE  
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[PMID]:28013294
[Au] Autor:Kondo H; Maksimova N; Otomo T; Kato H; Imai A; Asano Y; Kobayashi K; Nojima S; Nakaya A; Hamada Y; Irahara K; Gurinova E; Sukhomyasova A; Nogovicina A; Savvina M; Yoshimori T; Ozono K; Sakai N
[Ad] Endereço:Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka, Japan.
[Ti] Título:Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
[So] Source:Hum Mol Genet;26(1):173-183, 2017 Jan 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidoses (MPS) are a group of genetic deficiencies of lysosomal enzymes that catabolize glycosaminoglycans (GAG). Here we describe a novel MPS-like disease caused by a specific mutation in the VPS33A gene. We identified several Yakut patients showing typical manifestations of MPS: coarse facial features, skeletal abnormalities, hepatosplenomegaly, respiratory problems, mental retardation, and excess secretion of urinary GAG. However, these patients could not be diagnosed enzymatically as MPS. They showed extremely high levels of plasma heparan sulphate (HS, one of GAG); 60 times the normal reference range and 6 times that of MPS patients. Additionally, most patients developed heart, kidney, and hematopoietic disorders, which are not typical symptoms for conventional MPS, leading to a fatal outcome between 1 and 2-years old. Using whole exome and Sanger sequencing, we identified homozygous c.1492C > T (p.Arg498Trp) mutations in the VPS33A gene of 13 patients. VPS33A is involved in endocytic and autophagic pathways, but the identified mutation did not affect either of these pathways. Lysosomal over-acidification and HS accumulation were detected in patient-derived and VPS33A-depleted cells, suggesting a novel role of this gene in lysosomal functions. We hence propose a new type of MPS that is not caused by an enzymatic deficiency.
[Mh] Termos MeSH primário: Glicosaminoglicanos/metabolismo
Mucopolissacaridoses/genética
Mucopolissacaridoses/metabolismo
Mutação/genética
Proteínas de Transporte Vesicular/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Estudos de Casos e Controles
Células Cultivadas
Criança
Feminino
Fibroblastos/metabolismo
Fibroblastos/patologia
Seres Humanos
Masculino
Linhagem
Índice de Gravidade de Doença
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycosaminoglycans); 0 (VPS33A protein, human); 0 (Vesicular Transport Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161226
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw377


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[PMID]:27865974
[Au] Autor:Zampini L; Padella L; Marchesiello RL; Santoro L; Monachesi C; Giovagnoni A; Catassi C; Gabrielli O; Coppa GV; Galeazzi T
[Ad] Endereço:Pediatric Division, Department of Clinical Sciences, Università Politecnica delle Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: l.zampini@univpm.it.
[Ti] Título:Importance of the combined urinary procedure for the diagnosis of Mucopolysaccharidoses.
[So] Source:Clin Chim Acta;464:165-169, 2017 Jan.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine. The aim of this study is to determine if this simple, reliable and reproducible method is useful for the diagnosis of Mucopolysaccharidoses. METHODS: The study included 2154 normal urine samples and 210 samples from 73 patients affected by different types of Mucopolysaccharidoses. The glycosaminoglycans were quantified by a dimethylmethylene blue method and size-fractionated by a modified one-dimensional electrophoresis method. RESULTS: The combination of the two methods allowed to identify all the patients affected by the different types of Mucopolysaccharidosis with 100% sensitivity and specificity. CONCLUSION: This combined approach gives fast diagnostic orientation about the different types of Mucopolysaccharidoses, offering an important tool for a better understanding of diagnosis and patient management.
[Mh] Termos MeSH primário: Mucopolissacaridoses/diagnóstico
Mucopolissacaridoses/urina
Urinálise/métodos
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Glicosaminoglicanos/urina
Seres Humanos
Lactente
Recém-Nascido
Masculino
Reprodutibilidade dos Testes
Estudos Retrospectivos
Urinálise/economia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycosaminoglycans)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170208
[Lr] Data última revisão:
170208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161121
[St] Status:MEDLINE



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