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[PMID]:28882567
[Au] Autor:Alméciga-Díaz CJ; Tolosa-Díaz AD; Pimentel LN; Bonilla YA; Rodríguez-López A; Espejo-Mojica AJ; Patiño JD; Sánchez OF; Gonzalez-Santos J
[Ad] Endereço:Institute for the Study of Inborn Errors of Metabolism, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia. Electronic address: cjalmeciga@javeriana.edu.co.
[Ti] Título:Anaerobic sulfatase maturase AslB from Escherichia coli activates human recombinant iduronate-2-sulfate sulfatase (IDS) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
[So] Source:Gene;634:53-61, 2017 Nov 15.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Maturation of type I sulfatases requires the conversion of the cysteine (Cys) or serine (Ser) present in the active site to formylglycine (FGly). This activation represents a limiting step during the production of recombinant sulfatases in bacteria and eukaryotic hosts. AslB, YdeM and YidF have been proposed to participate in the activation of sulfatases in Escherichia coli. In this study, we combined in-silico and experimental approaches to study the interaction between Escherichia coli BL21(DE3) AslB and human sulfatases, more specifically iduronate-2-sulfate sulfatase (IDS) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS). In-silico results show that AslB has a higher affinity for the residual motif of GALNS (-9.4kcalmol ), Cys- and Ser-type, than for the one of IDS (-8.0kcalmol ). However, the distance between the AslB active residue and the target motif favors the interaction with IDS (4.4Å) more than with GALNS (5.5Å). Experimental observations supported in-silico results where the co-expression of AslB with GALNS Cys- and Ser-type presented an activity increment of 2.0- and 1.5-fold compared to the control cultures, lacking overexpressed AslB. Similarly, IDS activity was increased in 4.6-fold when co-expressed with AslB. The higher sulfatase activity of AslB-IDS suggests that the distance between the AslB active residue and the motif target is a key parameter for the in-silico search of potential sulfatase activators. In conclusion, our results suggest that AslB is involve in the maturation of heterologous human sulfatases in E. coli BL21(DE3), and that it can have important implications in the production of recombinant sulfatases for therapeutic purposes and research.
[Mh] Termos MeSH primário: Condroitina Sulfatases/metabolismo
Escherichia coli/enzimologia
Glicoproteínas/metabolismo
Sulfatases/química
Sulfatases/metabolismo
[Mh] Termos MeSH secundário: Domínio Catalítico
Condroitina Sulfatases/química
Cisteína/metabolismo
Ativação Enzimática
Proteínas de Escherichia coli/química
Proteínas de Escherichia coli/metabolismo
Glicoproteínas/química
Seres Humanos
Modelos Moleculares
Simulação de Acoplamento Molecular
Simulação de Dinâmica Molecular
Ligação Proteica
Proteínas Recombinantes/metabolismo
Serina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Escherichia coli Proteins); 0 (Glycoproteins); 0 (IDS protein, human); 0 (Recombinant Proteins); 452VLY9402 (Serine); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.- (Sulfatases); EC 3.1.6.4 (GALNS protein, human); K848JZ4886 (Cysteine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171002
[Lr] Data última revisão:
171002
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170909
[St] Status:MEDLINE


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[PMID]:28397226
[Au] Autor:Chen Q; Chen Y; Liu X; Wei H
[Ad] Endereço:Department of Endocrinologic, Genetic and Metabolic Diseases, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
[Ti] Título:[Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(2):232-235, 2017 Apr 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome). METHODS: The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing. RESULTS: The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction. The activities of GALNS enzymes were low. A compound heterozygous missense mutation, c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met), was detected in the GALNS gene. The mutations were respectively inherited from her father and mother. Among them, the c.1094G>T (p.Gly365Val) mutation was not reported previously. CONCLUSION: The mutations c.1094G>T (p.Gly365Val)/c.938C>T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.
[Mh] Termos MeSH primário: Condroitina Sulfatases/genética
Mucopolissacaridose IV/enzimologia
Mucopolissacaridose IV/genética
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Dados de Sequência Molecular
Mutação Puntual
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[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:170412
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.02.018


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[PMID]:27955919
[Au] Autor:Long B; Tompkins T; Decker C; Jesaitis L; Khan S; Slasor P; Harmatz P; O'Neill CA; Schweighardt B
[Ad] Endereço:BioMarin Pharmaceutical Inc., Novato, California. Electronic address: Brian.Long@bmrn.com.
[Ti] Título:Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study.
[So] Source:Clin Ther;39(1):118-129.e3, 2017 Jan.
[Is] ISSN:1879-114X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase. We previously reported immunogenicity data from our 24-week placebo-controlled Phase III study, MOR-004. Here, we report the long-term immunogenicity profile of elosulfase alfa from MOR-005, the Phase III extension trial to assess potential correlations between antidrug antibodies and efficacy and safety profile outcomes throughout 120 weeks of treatment. METHODS: The long-term immunogenicity of elosulfase alfa was evaluated in patients with Morquio A syndrome in an open-label extension study for a total of 120 weeks. All patients received 2.0 mg/kg elosulfase alfa either weekly or every other week before establishment of 2.0 mg/kg/wk as the recommended dose, at which time all patients received weekly treatment. Efficacy measures were compared with those from the MOR-004 baseline, enabling analysis of changes over 120 weeks. The primary efficacy measure was the change from baseline in 6-minute walk test. Secondary measures included changes from baseline in 3-minute stair climb test and normalized urine keratan sulfate, a pharmacodynamic metric. FINDINGS: All patients treated with elosulfase alfa developed antidrug total antibodies (TAb) by week 24 of MOR-004. In the extension study, all patients, including those who had previously received placebo, were TAb positive by study week 36 (MOR-005 week 12). All patients remained TAb positive throughout the study, and TAb titers were similar across treatment groups at week 120. Nearly all patients tested positive for neutralizing antibodies (NAb) at least once, with incidence of NAb positivity peaking at 85.9% at study week 36, then steadily declining to 66.0% at study week 120. In all treatment groups, mean urine keratan sulfate remained below treatment-naive baseline despite the presence of antidrug antibodies. No relationship was observed between TAb titers or NAb positivity and changes in urine keratan sulfate, 6-minute walk test, or 3-minute stair climb test from baseline to week 120. No consistent associations were detected between antidrug antibodies and the occurrence of hypersensitivity adverse events or anaphylaxis over the course of the study. IMPLICATIONS: Immunogenicity results from this long-term study are consistent with previously reported 24-week results. Despite the sustained presence of antidrug antibodies, elosulfase alfa was well tolerated, and patients continued to benefit from treatment through week 120. No associations were detected between higher TAb titers or NAb positivity and reduced treatment effect or worsened safety profile measures. ClinicalTrials.gov identifier: NCT01415427.
[Mh] Termos MeSH primário: Condroitina Sulfatases/uso terapêutico
Terapia de Reposição de Enzimas/métodos
Mucopolissacaridose IV/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Anticorpos Neutralizantes
Criança
Método Duplo-Cego
Terapia de Reposição de Enzimas/efeitos adversos
Feminino
Seres Humanos
Sulfato de Ceratano/urina
Masculino
Meia-Idade
Atividade Motora
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Antibodies, Neutralizing); 9056-36-4 (Keratan Sulfate); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161214
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE


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[PMID]:27825773
[Au] Autor:Fateen EM; El Mawgoud HA; Eissa NR; Ibrahim MM; Aglan MS; Essawi ML
[Ad] Endereço:Department of Biochemical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Dokki12311, Cairo, Egypt. Electronic address: efateen@yahoo.com.
[Ti] Título:Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
[So] Source:Gene;600:48-54, 2017 Feb 05.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Morquio A disease (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) encoded by the GALNS gene. This deficiency leads to a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing their accumulation within the lysosomes and consequently prominent skeletal and visceral abnormalities. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families. Mutational analysis was performed to PCR products by sequencing of the 14 exons and exon-intron boundaries of GALNS gene for the 4 patients. Sequence analysis revealed four novel mutations; three nonsense mutations (p.Q12X, p.Q220X, p.Y254X) and one missense mutation, p.D40G. All four patients were offspring of consanguineous marriages and were homozygous for the corresponding mutation. The activity of the GALNS enzyme was below normal reference range in all of them. The p.Q12X and p.Y254X were associated with severe MPS IVA phenotype. Molecular analysis of GALNS gene revealed four novel mutations in four different Morquio A Egyptian patients.
[Mh] Termos MeSH primário: Condroitina Sulfatases/genética
Mucopolissacaridose IV/enzimologia
Mucopolissacaridose IV/genética
Mutação
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Criança
Pré-Escolar
Códon sem Sentido
Consanguinidade
Análise Mutacional de DNA
Egito
Feminino
Homozigoto
Seres Humanos
Masculino
Mucopolissacaridose IV/patologia
Mutação de Sentido Incorreto
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170130
[Lr] Data última revisão:
170130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161110
[St] Status:MEDLINE


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[PMID]:27789297
[Au] Autor:Melton AC; Soon RK; Tompkins T; Long B; Schweighardt B; Qi Y; Vitelli C; Bagri A; Decker C; O'Neill CA; Zoog SJ; Jesaitis L
[Ad] Endereço:BioMarin Pharmaceutical Inc., Novato, CA, United States. Electronic address: AMelton@bmrn.com.
[Ti] Título:Antibodies that neutralize cellular uptake of elosulfase alfa are not associated with reduced efficacy or pharmacodynamic effect in individuals with Morquio A syndrome.
[So] Source:J Immunol Methods;440:41-51, 2017 Jan.
[Is] ISSN:1872-7905
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Many enzyme replacement therapies (ERTs) for lysosomal storage disorders use the cell-surface cation-independent mannose-6 phosphate receptor (CI-M6PR) to deliver ERTs to the lysosome. However, neutralizing antibodies (NAb) may interfere with this process. We previously reported that most individuals with Morquio A who received elosulfase alfa in the phase 3 MOR-004 trial tested positive for NAbs capable of interfering with binding to CI-M6PR ectodomain in an ELISA-based assay. However, no correlation was detected between NAb occurrence and clinical efficacy or pharmacodynamics. To quantify and better characterize the impact of NAbs, we developed a functional cell-based flow cytometry assay with a titer step that detects antibodies capable of interfering with elosulfase alfa uptake. Serum samples collected during the MOR-004 trial were tested and titers were determined. Consistent with earlier findings on NAb positivity, no correlations were observed between NAb titers and the clinical outcomes of elosulfase alfa-treated individuals with Morquio A.
[Mh] Termos MeSH primário: Anticorpos Neutralizantes/sangue
Condroitina Sulfatases/uso terapêutico
Terapia de Reposição de Enzimas/métodos
Citometria de Fluxo
Mucopolissacaridose IV/tratamento farmacológico
Receptor IGF Tipo 2/imunologia
Testes Sorológicos/métodos
[Mh] Termos MeSH secundário: Anticorpos Neutralizantes/imunologia
Transporte Biológico
Condroitina Sulfatases/farmacocinética
Método Duplo-Cego
Seres Humanos
Células Jurkat
Microscopia Confocal
Mucopolissacaridose IV/sangue
Mucopolissacaridose IV/enzimologia
Mucopolissacaridose IV/imunologia
Receptor IGF Tipo 2/metabolismo
Fatores de Tempo
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Antibodies, Neutralizing); 0 (Receptor, IGF Type 2); 0 (cation-dependent mannose-6-phosphate receptor); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[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:161030
[St] Status:MEDLINE


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[PMID]:27855521
[Au] Autor:Hendriksz CJ
[Ad] Endereço:a Paediatrics and Child Health , University of Pretoria , Steve Biko Academic Unit, Pretoria , South Africa.
[Ti] Título:Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome).
[So] Source:Expert Rev Clin Pharmacol;9(12):1521-1532, 2016 Dec.
[Is] ISSN:1751-2441
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intravenously once-weekly at a dose of 2.0 mg/kg. Areas covered: This is a review of the efficacy, safety and tolerability, pharmacokinetics and pharmacodynamics, and other outcomes of elosulfase alfa treatment of patients with Morquio A. A discussion of other treatment considerations, limitations, and future directions in the use of elosulfase alfa is provided. Expert commentary: Pharmacokinetic studies outside of clinical trials and in 'real-world' clinical settings need to be performed. We cannot currently predict which patient is going to respond well to enzyme replacement therapy; thus, all patients should be given the option to receive treatment for at least 12 months. Additionally, accurate biomarkers for evaluating disease state and drug responsiveness would greatly aid in the treatment of patients with Morquio A. In addition, improved and innovative daily lifestyle measures are greatly needed to adequately measure clinical response and true impact on quality of life.
[Mh] Termos MeSH primário: Condroitina Sulfatases/efeitos adversos
Condroitina Sulfatases/uso terapêutico
Terapia de Reposição de Enzimas/métodos
Mucopolissacaridose IV/tratamento farmacológico
[Mh] Termos MeSH secundário: Condroitina Sulfatases/farmacocinética
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170227
[Lr] Data última revisão:
170227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE


  7 / 192 MEDLINE  
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[PMID]:27317439
[Au] Autor:Chkioua L; Khedhiri S; Hafsi H; Grissa O; Ben Turkia H; Miled A; Laradi S; Froissart R; Alif N
[Ad] Endereço:Laboratory of Biochemistry, F. Hached Hospital, 4000, Sousse, Tunisia.
[Ti] Título:Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
[So] Source:Diagn Pathol;11(1):51, 2016 Jun 17.
[Is] ISSN:1746-1596
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The purpose of this study was to analyze the GALNS mutations and the haplotypes associated. METHODS: Mutation screening of the GALNS gene was performed by direct sequence analysis using DNA samples from 15 unrelated Tunisian MPS IVA patients. We also analyzed the haplotypes associated with the novel mutation and with the other reported GALNS mutations. RESULTS: We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. All the studied patients were homozygous for these identified mutations. Bioinformatics analysis predicted the novel mutation as being probably pathogenic. These findings with the unobserved p.D288G mutation in controls subjects, suggested that it is a disease-causing mutation, which was correlated with the severe phenotype observed in the patients. We have found that the two GALNS unreported and reported mutations, respectively p.D288G and p.R386C, were associated with a common and specific haplotype. CONCLUSION: Our results were in agreement with previous reports from Tunisia, suggesting, on one hand the genotype/phenotype correlations in MPS IVA patients and the other hand the haplotype analyses were useful for determination of mutation origin in Tunisian population.
[Mh] Termos MeSH primário: Condroitina Sulfatases/genética
Estudos de Associação Genética
Mucopolissacaridose IV/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Pré-Escolar
Estudos de Coortes
Biologia Computacional
Análise Mutacional de DNA
Feminino
Genótipo
Haplótipos
Homozigoto
Seres Humanos
Lactente
Masculino
Mutação
Mutação de Sentido Incorreto
Fenótipo
Alinhamento de Sequência
Tunísia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160619
[St] Status:MEDLINE
[do] DOI:10.1186/s13000-016-0498-y


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[PMID]:26877092
[Au] Autor:Clarke LA; Harmatz P; Fong EW
[Ad] Endereço:Medical Genetics, University of British Columbia, British Columbia, Canada; Provincial Medical Genetics Program, Children's and Women's Health Center of BC, British Columbia, Canada.
[Ti] Título:Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
[So] Source:Mol Genet Metab;117(2):217, 2016 Feb.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access http://www.elseviercme.com/559) Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an enzyme responsible for the metabolism of the glycosaminoglycans (GAGs) keratin sulfate and chondroitin-6-sulfate.(2-4) Reduced activity or lack of GALNS leads to cellular and tissue accumulation of these GAGs to result in progressive, multisystem dysfunction and impaired functional capacity.(5) Individuals with Morquio A Syndrome suffer from a broad spectrum of impairment, including a variety of widespread skeletal abnormalities, respiratory compromise, valvular heart disease, visual and auditory impairments, and dental abnormalities.(6-8) Cognition is not typically affected.(9) Morquio A Syndrome exhibits extensive allelic heterogeneity, which results in extensive clinical heterogeneity.(2-4) This educational intervention on the management of patients with Morquio A Syndrome provides updated information and guidelines concerning the early and accurate diagnosis as well as an earlier intervention to improve patient outcomes. The activity is based on a live satellite symposium conducted during the 2015 official ACMG Annual Clinical Genetics Meeting program. Recent advances in the science of enzyme replacement therapies have presented opportunities for pharmacological interventions that improve quality of life. Clinicians will be updated on the clinical trial data and practical solutions for applying newer therapeutics to daily practice. Strategies to manage cardiopulmonary comorbidities and recommendations for the ideal clinical care model will wrap up this informative and up-to-date review of Morquio A Syndrome. This CME activity is also available through the Website of Molecular Genetics and Metabolism. Click on the CME button in the navigation bar for full access. Or access: http://www.elseviercme.com/559.
[Mh] Termos MeSH primário: Mucopolissacaridose IV/tratamento farmacológico
[Mh] Termos MeSH secundário: Condroitina Sulfatases/uso terapêutico
Protocolos Clínicos
Terapia de Reposição de Enzimas
Seres Humanos
Mucopolissacaridose IV/genética
Medicina de Precisão
Qualidade de Vida
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160216
[St] Status:MEDLINE


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[PMID]:26414802
[Au] Autor:Kesselheim AS; Maggs LR; Sarpatwari A
[Ad] Endereço:Program on Regulation, Therapeutics, and Law (PORTAL), Division of Pharmacoepidemiology and Pharmacoeconomics, Harvard Medical School, Boston, Massachusetts.
[Ti] Título:Experience With the Priority Review Voucher Program for Drug Development.
[So] Source:JAMA;314(16):1687-8, 2015 Oct 27.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Aprovação de Drogas/economia
Indústria Farmacêutica/economia
Doenças Negligenciadas/tratamento farmacológico
Desenvolvimento de Programas/economia
Doenças Raras/tratamento farmacológico
[Mh] Termos MeSH secundário: Anticorpos Monoclonais/economia
Antimaláricos/economia
Antineoplásicos/economia
Antiprotozoários/economia
Antituberculosos/economia
Artemisininas/economia
Ácido Cólico/economia
Condroitina Sulfatases/economia
Diarilquinolinas/economia
Aprovação de Drogas/legislação & jurisprudência
Aprovação de Drogas/métodos
Combinação de Medicamentos
Indústria Farmacêutica/legislação & jurisprudência
Etanolaminas/economia
Fluorenos/economia
Seres Humanos
Fosforilcolina/análogos & derivados
Fosforilcolina/economia
Estados Unidos
United States Food and Drug Administration
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Antimalarials); 0 (Antineoplastic Agents); 0 (Antiprotozoal Agents); 0 (Antitubercular Agents); 0 (Artemisinins); 0 (Diarylquinolines); 0 (Drug Combinations); 0 (Ethanolamines); 0 (Fluorenes); 0 (artemether-lumefantrine combination); 107-73-3 (Phosphorylcholine); 53EY29W7EC (miltefosine); 78846I289Y (bedaquiline); 7SQY4ZUD30 (ch14.18 monoclonal antibody); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human); G1JO7801AE (Cholic Acid)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150929
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2015.11845


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[PMID]:26331768
[Au] Autor:Jones SA; Bialer M; Parini R; Martin K; Wang H; Yang K; Shaywitz AJ; Harmatz P
[Ad] Endereço:Willink Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Central Manchester University Hospital National Health Service Foundation Trust, Manchester, UK.
[Ti] Título:Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.
[So] Source:Pediatr Res;78(6):717-22, 2015 Dec.
[Is] ISSN:1530-0447
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged ≥5 y. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patients. METHODS: Fifteen Morquio A patients aged <5 y received elosulfase alfa 2.0 mg/kg/week for 52 wk during the primary treatment phase of a phase II, open-label, multinational study. Primary endpoint was safety and tolerability; secondary endpoints were change in uKS and growth velocity over 52 wk. RESULTS: All 15 patients completed the primary treatment phase. Six of 743 infusions (0.8%) administered led to adverse events (AEs) requiring infusion interruption and medical intervention. Eleven patients (73.3%) had ≥1 study drug-related AE, mostly infusion-associated reactions. Mean z-score growth rate per year numerically improved from -0.6 at baseline to -0.4 at week 52. Comparison to untreated subjects of similar age in the Morquio A Clinical Assessment Program study showed a smaller decrease in height z-scores for treated than for untreated patients. Mean percent change from baseline in uKS was -30.2% at 2 wk and -43.5% at 52 wk. CONCLUSION: Early intervention with elosulfase alfa is well-tolerated and produces a decrease in uKS and a trend toward improvement in growth.
[Mh] Termos MeSH primário: Condroitina Sulfatases/administração & dosagem
Terapia de Reposição de Enzimas
Mucopolissacaridose IV/tratamento farmacológico
[Mh] Termos MeSH secundário: Fatores Etários
Biomarcadores/urina
Estatura/efeitos dos fármacos
Desenvolvimento Infantil/efeitos dos fármacos
Pré-Escolar
Condroitina Sulfatases/efeitos adversos
Esquema de Medicação
Intervenção Médica Precoce
Terapia de Reposição de Enzimas/efeitos adversos
Europa (Continente)
Feminino
Seres Humanos
Lactente
Infusões Intravenosas
Sulfato de Ceratano/urina
Masculino
Mucopolissacaridose IV/diagnóstico
Mucopolissacaridose IV/enzimologia
Mucopolissacaridose IV/fisiopatologia
Mucopolissacaridose IV/urina
Proteínas Recombinantes/administração & dosagem
Fatores de Tempo
Resultado do Tratamento
Reino Unido
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers); 0 (Recombinant Proteins); 9056-36-4 (Keratan Sulfate); EC 3.1.6.- (Chondroitinsulfatases); EC 3.1.6.4 (GALNS protein, human)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150903
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1038/pr.2015.169



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