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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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Coelho, Janice C
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[PMID]:28088454
[Au] Autor:Breier AC; Cé J; Mezzalira J; Daitx VV; Moraes VC; Goldim MPS; Coelho JC
[Ad] Endereço:Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: anacarolina.breier@gmail.com.
[Ti] Título:Alpha-l-iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability.
[So] Source:Clin Biochem;50(7-8):431-435, 2017 May.
[Is] ISSN:1873-2933
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The goal of this study was to assess the biochemical parameters of the enzymes α-l-iduronidase (IDUA) and arylsulfatase B (ASB), which are deficient in mucopolysaccharidosis (MPS) I and VI, respectively, in dried blood spot (DBS) samples impregnated on filter paper. METHODS AND RESULTS: The optimal pH, Km, and Vmax of IDUA and ASB in DBS are hereby presented. After these analyses, the reference values for the activities of these enzymes in DBS with cutoff of 3.65nmol/h/mL for IDUA and 6.80nmol/h/mL for ASB were established. The research also showed that the stability (21days) of the IDUA activity is lower than ASB, which maintained its enzymatic activity stable up until 60days of analysis, after impregnating the filter paper with blood. CONCLUSION: Currently, DBS ensures important advantages in handling storage and transportation of samples with respect to neonatal screening programs. This study contributes to characterizing and differentiating the biochemistry of deficient enzymes in MPSs I and VI of DBS samples.
[Mh] Termos MeSH primário: Teste em Amostras de Sangue Seco/métodos
Iduronidase/sangue
Mucopolissacaridose IV/sangue
Mucopolissacaridose I/sangue
N-Acetilgalactosamina-4-Sulfatase/sangue
[Mh] Termos MeSH secundário: Teste em Amostras de Sangue Seco/instrumentação
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.1.6.12. (ARSB protein, human); EC 3.2.1.76 (IDUA protein, human); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170116
[St] Status:MEDLINE


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[PMID]:27979613
[Au] Autor:Khan S; Alméciga-Díaz CJ; Sawamoto K; Mackenzie WG; Theroux MC; Pizarro C; Mason RW; Orii T; Tomatsu S
[Ad] Endereço:Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
[Ti] Título:Mucopolysaccharidosis IVA and glycosaminoglycans.
[So] Source:Mol Genet Metab;120(1-2):78-95, 2017 Jan - Feb.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia. Chondrogenesis, the earliest phase of skeletal formation, is maintained by cellular interactions with the ECM, growth and differentiation factors, signaling pathways, and transcription factors in a temporal-spatial manner. In patients with MPS IVA, the cartilage is disrupted at birth as a consequence of abnormal chondrogenesis and/or endochondral ossification. The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. In spite of many descriptions of these unique clinical features, delay of diagnosis still happens. The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge. In this review article, we comprehensively describe historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA.
[Mh] Termos MeSH primário: Cartilagem/metabolismo
Glicosaminoglicanos/metabolismo
Mucopolissacaridose IV/diagnóstico
Mucopolissacaridose IV/terapia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Ensaios Clínicos como Assunto
Terapia de Reposição de Enzimas
Feminino
Terapia Genética
Seres Humanos
Masculino
Mucopolissacaridose IV/metabolismo
Procedimentos Ortopédicos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Glycosaminoglycans)
[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:161217
[St] Status:MEDLINE


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Registro de Ensaios Clínicos
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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]:27750150
[Au] Autor:Front S; Biela-Banas A; Burda P; Ballhausen D; Higaki K; Caciotti A; Morrone A; Charollais-Thoenig J; Gallienne E; Demotz S; Martin OR
[Ad] Endereço:Université d'Orléans & CNRS, Institut de Chimie Organique et Analytique (ICOA), UMR 7311, Rue de Chartres, 45067 Orléans, France.
[Ti] Título:(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal ß-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
[So] Source:Eur J Med Chem;126:160-170, 2017 Jan 27.
[Is] ISSN:1768-3254
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:This report is about the identification, synthesis and initial biological characterization of derivatives of 4-epi-isofagomine as pharmacological chaperones (PC) for human lysosomal ß-galactosidase. The two epimers of 4-epi-isofagomine carrying a pentyl group at C-5a, namely (5aR)- and (5aS)-5a-C-pentyl-4-epi-isofagomine, were prepared by an innovative procedure involving in the key step the addition of nitrohexane to a keto-pentopyranoside. Both epimers were evaluated as inhibitors of the human ß-galactosidase: the (5aR)-stereoisomer (compound 1) was found to be a very potent inhibitor of the enzyme (IC = 8 nM, 30× more potent than 4-epi-isofagomine at pH 7.3) with a high selectivity for this glycosidase whereas the (5aS) epimer was a much weaker inhibitor. In addition, compound 1 showed a remarkable activity as a PC. It significantly enhanced the residual activity of mutant ß-galactosidase in 15 patient cell lines out of 23, with enhancement factors greater than 3.5 in 10 cell lines and activity restoration up to 91% of normal. Altogether, these results indicated that (5aR)-5a-C-pentyl-4-epi-isofagomine constitutes a promising PC-based drug candidate for the treatment of GM1-gangliosidosis and Morquio disease type B.
[Mh] Termos MeSH primário: Inibidores Enzimáticos/farmacologia
Gangliosidose GM1/genética
Imino Piranoses/farmacologia
Lisossomos/enzimologia
Mucopolissacaridose IV/genética
Mutação
beta-Galactosidase/antagonistas & inibidores
[Mh] Termos MeSH secundário: Desenho de Drogas
Inibidores Enzimáticos/síntese química
Inibidores Enzimáticos/química
Fibroblastos/efeitos dos fármacos
Gangliosidose GM1/enzimologia
Gangliosidose GM1/patologia
Temperatura Alta
Seres Humanos
Concentração de Íons de Hidrogênio
Imino Piranoses/síntese química
Imino Piranoses/química
Mucopolissacaridose IV/enzimologia
Mucopolissacaridose IV/patologia
Desnaturação Proteica
beta-Galactosidase/química
beta-Galactosidase/genética
beta-Galactosidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 ((5aR)-5a-C-pentyl-4-epi-isofagomine); 0 (Enzyme Inhibitors); 0 (Imino Pyranoses); 0 (isofagomine); EC 3.2.1.23 (beta-Galactosidase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161018
[St] Status:MEDLINE


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[PMID]:27977582
[Au] Autor:Kaissi AA; van Egmond-Fröhlich A; Ryabykh S; Ochirov P; Kenis V; Hofstaetter JG; Grill F; Ganger R; Kircher SG
[Ad] Endereço:aLudwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital bOrthopaedic Hospital of Speising, Paediatric Department cDepartment of Pediatrics, Kaiser-Franz-Josef Spital, Vienna, Austria dAxial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia ePediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia fInstitute of Medical Chemistry, Medical University of Vienna, Austria.
[Ti] Título:Spine malformation complex in 3 diverse syndromic entities: Case reports.
[So] Source:Medicine (Baltimore);95(50):e5505, 2016 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. PATIENTS CONCERNS: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. DIAGNOSES: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). INTERVENTIONS: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. OUTCOMES: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. LESONS: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and
[Mh] Termos MeSH primário: Displasia Campomélica/diagnóstico por imagem
Imagem Tridimensional
Mucopolissacaridose IV/diagnóstico por imagem
Osteocondrodisplasias/diagnóstico por imagem
Coluna Vertebral/anormalidades
Tomografia Computadorizada por Raios X/métodos
[Mh] Termos MeSH secundário: Displasia Campomélica/cirurgia
Criança
Pré-Escolar
Feminino
Seres Humanos
Recém-Nascido
Masculino
Mucopolissacaridose IV/cirurgia
Anormalidades Musculoesqueléticas/diagnóstico
Anormalidades Musculoesqueléticas/cirurgia
Osteocondrodisplasias/cirurgia
Doenças Raras
Amostragem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161216
[St] Status:MEDLINE


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[PMID]:27916847
[Au] Autor:Bolourchi M; Renella P; Wang RY
[Ad] Endereço:Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. meena.bolourchi@gmail.com.
[Ti] Título:Aortic Root Dilatation in Mucopolysaccharidosis I-VII.
[So] Source:Int J Mol Sci;17(12), 2016 Nov 29.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc -tests were used to summarize the aortic dimensions. Exact binomial 95% confidence intervals (CIs) were constructed for ARD, defined as a score greater than 2 at the SoV. The patient age ranged from 3.4-25.9 years (mean 13.3 ± 6.1), the height from 0.87-1.62 meters (mean 1.24 ± 0.21), and the weight from 14.1-84.5 kg (mean 34.4 ± 18.0). The prevalence of dilation at the AVA was 41% (14/34; 95% CI: 25%-59%); at the SoV was 35% (12/34; 95% CI: 20%-54%); and at the STJ was 30% (9/30; 95% CI: 15%-49%). The highest prevalence of ARD was in MPS IVa (87.5%). There was no significant difference between mean z-scores of MPS patients who received treatment with hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) vs. untreated MPS patients at the AVA ( = 1.9 ± 2.5 vs. = 1.5 ± 2.4; = 0.62), SoV ( = 1.2 ± 1.6 vs. = 1.3 ± 2.2; = 0.79), or STJ ( = 1.0 ± 1.8 vs. = 1.2 ± 1.6; = 0.83). The prevalence of ARD was 35% in our cohort of MPS I-VII patients. Thus, we recommend screening for ARD on a routine basis in this patient population.
[Mh] Termos MeSH primário: Doenças da Aorta/diagnóstico
Dilatação Patológica/diagnóstico
Mucopolissacaridose III/patologia
Mucopolissacaridose II/patologia
Mucopolissacaridose IV/patologia
Mucopolissacaridose I/patologia
Mucopolissacaridose VII/patologia
Mucopolissacaridose VI/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Aorta/metabolismo
Aorta/patologia
Doenças da Aorta/tratamento farmacológico
Doenças da Aorta/terapia
Criança
Dilatação Patológica/tratamento farmacológico
Dilatação Patológica/terapia
Feminino
Seres Humanos
Masculino
Mucopolissacaridose I/metabolismo
Mucopolissacaridose II/metabolismo
Mucopolissacaridose III/metabolismo
Mucopolissacaridose IV/metabolismo
Mucopolissacaridose VI/metabolismo
Mucopolissacaridose VII/metabolismo
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161206
[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



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