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[PMID]:27826022
[Au] Autor:Uttarilli A; Pasumarthi D; Ranganath P; Dalal AB
[Ad] Endereço:Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India; Graduate Studies, Manipal University, Manipal, Karnataka, India.
[Ti] Título:Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
[So] Source:Gene;599:19-27, 2017 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different mutations in ARSB worldwide. In the present study we carried out molecular and functional analyses to characterize the mutations reported by us in Indian population. Mutation analysis of 19 MPS VI patients revealed presence of a total of 15 different mutations of which twelve were novel [p.Asp53Asn (c.157G>A; p.D53N), p.Leu98Arg (c.293T>G; p.L98R), p.Tyr103Serfs*9 (c.306_312delCTACCAG+146del; p.Y103Sfs*9), p.Phe166Leufs*18 (c.496delT; p.F166Lfs*18), p.Ile220Serfs*5 (c.659_660delTA; p.I220Sfs*5), p.Ile350Phe (c.1048A>T; p.I350F), p.Trp353* (c.1059G>A; p.W353*), p.His393Arg (c.1178A>G; p.H393R), p.Ser403Tyrfs* (c.1208delC; p.S403Yfs*), p.Pro445Leu (c.1334C>T; p.P445L), p.Trp450Leu (c.1349G>T; p.W450L) and p.Trp450Cys (c.1350G>C; p.W450C)] and three were known mutations [p.Asp54Asn (c.160G>A; p.D54N), p.Ala237Asp (c.710C>A; p.A237D) and p.Ser320Arg (c.960C>G; p.S320R)]. Functional characterization using site-directed mutagenesis followed by cell transfection assays, immunoblot, reverse transcriptase PCR and immunofluorescence studies for the putative pathogenic variants detected in our MPS VI patient cohort helped us to confirm the pathogenic potential of the variants in ARSB.
[Mh] Termos MeSH primário: Mucopolissacaridose VI/enzimologia
Mucopolissacaridose VI/genética
Mutação
N-Acetilgalactosamina-4-Sulfatase/genética
N-Acetilgalactosamina-4-Sulfatase/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Animais
Sequência de Bases
Células COS
Cercopithecus aethiops
Criança
Pré-Escolar
Estudos de Coortes
Análise Mutacional de DNA
Feminino
Seres Humanos
Índia
Lactente
Masculino
Mucopolissacaridose VI/patologia
Proteínas Mutantes/genética
Proteínas Mutantes/metabolismo
Fenótipo
Proteínas Recombinantes/genética
Proteínas Recombinantes/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mutant Proteins); 0 (Recombinant Proteins); EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.1.6.12. (ARSB 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]:27797586
[Au] Autor:Ittiwut C; Boonbuamas S; Srichomthong C; Ittiwut R; Suphapeetiporn K; Shotelersuk V
[Ad] Endereço:1 Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genetics, Chulalongkorn University , Bangkok, Thailand .
[Ti] Título:Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
[So] Source:Genet Test Mol Biomarkers;21(1):58-62, 2017 Jan.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of consanguineous marriages. MATERIALS AND METHODS: The diagnosis was confirmed by biochemical and genetic tests. We performed mutation analysis by polymerase chain reaction-sequencing on the entire coding region of the ARSB gene. Array-based comparative genomic hybridization (aCGH) analysis combined with direct sequencing was also used to search for a deletion boundary. RESULTS: The causative mutations were detected in all cases. Of four different mutations identified, three have never been previously described, which included two missense mutations (p.C155Y and p.R388T) and a deletion encompassing exons 2 and 3. Both missense mutations were absent in 110 unaffected ethnic-matched control chromosomes and an in-house database of 180 Thai exomes. The p.C155Y and p.R388T mutations were located in highly conserved residues. A CGH analysis combined with direct sequencing identified the breakpoints of a large 13,788 base pair deletion. It is the largest deletion of ARSB described to date in patients with MPS VI. CONCLUSION: This study expanded the known mutational spectrum of ARSB; we identified three novel mutations; two of which are missense mutations and one that represents the largest deletion mutation identified to date in this gene.
[Mh] Termos MeSH primário: Mucopolissacaridose VI/genética
N-Acetilgalactosamina-4-Sulfatase/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Hibridização Genômica Comparativa
Análise Mutacional de DNA
Éxons
Feminino
Deleção de Genes
Seres Humanos
Lactente
Masculino
Mucopolissacaridose VI/metabolismo
Mutação
Mutação de Sentido Incorreto
N-Acetilgalactosamina-4-Sulfatase/metabolismo
Deleção de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.1.6.12. (ARSB protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170411
[Lr] Data última revisão:
170411
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0221


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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]:27724940
[Au] Autor:Somanadhan S; Larkin PJ
[Ad] Endereço:Temple Street Children's University Hospital, Dublin, Ireland. sujas@live.ie.
[Ti] Título:Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).
[So] Source:Orphanet J Rare Dis;11(1):138, 2016 10 10.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought. METHODS: This qualitative hermeneutic phenomenological study explored and interpreted Irish parents' experiences of living with and caring for children, adolescents and young adults with MPS and the impact of these diseases on their day to day life. A purposively selected sample of parents' attending the Irish National Centre for Inherited Metabolic Disorders was invited to participate in serial in-depth interviews. RESULTS: A total of eight parents' (n = 8) of children with a range of MPS disorders aged from 6 months to 22 years (MPS I Hurler syndrome, Scheie syndrome), MPS II (Hunter syndrome), MPS III (Sanfilipo syndrome) and MPS VI (Maroteaux-Lamy syndrome) were interviewed at three time points over a 17 month period. The main themes identified during data analysis were described as living with MPS, living with a genetic rare disease, the stigma of a rare condition, MPS as encompassing multiple diseases, Unknown future, hospital vs. home, experience of waiting, a tough road ahead, and things in their day-to-day life with MPS. They spoke of their child's Quality of Life (QoL), their healthy children's wellbeing, and for some, the impact on their own physical and psychological wellbeing. They also reflected on issues of stigmatisation and isolation in their experience of living with a child with a rare disorder. CONCLUSION: This study's findings reflect the wider literature on the impact of rare diseases, which have also indicated how caring for someone with MPS, a condition that is chronic, progressive and degenerative can impact on all dimensions of the family's life. Analysis of the findings using a hemenutic pheomenology perspecitve suggest that parents of children with MPS experience multiple cyclical movements across all five human lived existential experience, and they gradually develop ways to incorporate MPS in their day to day life. It was also evident that all the carers in this study experienced a range of uncertainties, with parents using terms such as 'no man's land' and 'future is unknown' to describe their world.
[Mh] Termos MeSH primário: Cuidadores/psicologia
Cuidadores/estatística & dados numéricos
Mucopolissacaridoses
Pais/psicologia
Qualidade de Vida
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Mucopolissacaridose II
Mucopolissacaridose III
Mucopolissacaridose VI
Pesquisa Qualitativa
Doenças Raras
Apoio Social
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161012
[St] Status:MEDLINE


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[PMID]:27512882
[Au] Autor:Kaissi AA; Hofstaetter J; Weigel G; Grill F; Ganger R; Kircher SG
[Ad] Endereço:aFirst Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital bPaediatric Department, Orthopaedic Hospital of Speising cInstitute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.
[Ti] Título:The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.
[So] Source:Medicine (Baltimore);95(32):e4561, 2016 Aug.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on.Clinical and radiographic phenotypic characterization was the baseline tool to document the older sibling, parents, and relatives, all of them examined at the Orthopaedic Hospital of Speising, Vienna, Austria. The family history (from maternal and paternal sides) showed >10 subjects with variable clinical histories of hyperactivity and attention deficit disorder, depression, and a diversity of skeletal abnormalities, such as dysplastic spondylolisthesis, discovertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). METHODS: Eleven patients in a family with interrelated marriages (two male siblings of 15 and 13-year-old), parents and relatives over three generations were enrolled. One of the siblings was diagnosed with Maroteaux-Lamy syndrome at the age of five-years and mutation of the ARBS gene has been encountered. The older sibling manifested at birth craniofacial abnormalities associated with multiple contracture and seizures. Cerebral palsy was the suggested diagnosis. Clinical and radiographic phenotypes were the baseline tool to document the older sibling, parents and relatives at the orthopaedic Hospital of Speising, Vienna, Austria. These were followed by whole Exome sequencing in three family subjects. RESULTS: A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID. Both parents are first related and were found to be heterozygous for N-acetylglucosamine-6-sulfatase GNS gene. Family history showed more than 10 subjects with variable clinical presentations such as dysplastic spondylolisthesis, disco-vertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age). CONCLUSION: Owing to the multiple systemic involvements, a genetic cause was suspected and a molecular genetic investigation by using whole-exome-sequencing method in 3 family subjects (trios) was performed: the 15-year-old boy and his parents. A homozygous splice-site-mutation in the GNS gene could be found, compatible with mucopolysaccharidosis-Sanfillipo syndrome (type IIID). Both parents are first related and were now found also to be heterozygous for the GNS gene mutation found in their older son. Therefore, both parents are heterozygous carriers for the ARSB gene mutation but also the GNS gene mutation. In the son with MPS VI, no mutation in the GNS gene was found, but the brother with MPS IIID was heterozygous for the ARSB gene mutation.We presume that the intrafamilial variability of clinical signs in different family members could be the result of various mutations in the ARSB/GNS genes in the carriers or potential modulating effects of other genes or differences in genetic backgrounds.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/patologia
Mucopolissacaridose VI/patologia
Esqueleto/anormalidades
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Adolescente
Criança
Pré-Escolar
Feminino
Seres Humanos
Deficiência Intelectual/genética
Masculino
Mucopolissacaridose VI/genética
N-Acetilgalactosamina-4-Sulfatase/genética
Linhagem
Ossos Pélvicos/anormalidades
Convulsões/genética
Crânio/anormalidades
Coluna Vertebral/anormalidades
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.1.6.12. (ARSB protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000004561


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[PMID]:27370326
[Au] Autor:Lyons LA; Grahn RA; Genova F; Beccaglia M; Hopwood JJ; Longeri M
[Ad] Endereço:Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri - Columbia, Columbia, MO, 65211, USA. lyonsla@missouri.edu.
[Ti] Título:Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.
[So] Source:BMC Vet Res;12(1):136, 2016 Jul 02.
[Is] ISSN:1746-6148
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes causing aesthetically interesting traits. The impact genetic tests have on animal breeding and health management is significant because of the ability to control the breeding of domestic cats, especially breed cats. If used properly, genetic testing can prevent the production of diseased animals, causing the reduction of the frequency of the causal variant in the population, and, potentially, the eventual eradication of the disease. However, testing of some identified DNA variants may be unwarranted and cause undo strife within the cat breeding community and unnecessary reduction of gene pools and availability of breeding animals. Testing for mucopolysaccharidosis Type VI (MPS VI) in cats, specifically the genetic testing of the L476P (c.1427T>C) and the D520N (c.1558G>A) variants in arylsulfatase B (ARSB), has come under scrutiny. No health problems are associated with the D520N (c.1558G>A) variant, however, breeders that obtain positive results for this variant are speculating as to possible correlation with health concerns. Birman cats already have a markedly reduced gene pool and have a high frequency of the MPS VI D520N variant. Further reduction of the gene pool by eliminating cats that are heterozygous or homozygous for only the MPS VI D520N variant could lead to more inbreeding depression effects on the breed population. Herein is debated the genetic testing of the MPS VI D520N variant in cats. Surveys from different laboratories suggest the L476P (c.1427T>C) disease-associated variant should be monitored in the cat breed populations, particularly breeds with Siamese derivations and outcrosses. However, the D520N has no evidence of association with disease in cats and testing is not recommended in the absence of L476P genotyping. Selection against the D520N is not warranted in cat populations. More rigorous guidelines may be required to support the genetic testing of DNA variants in all animal species.
[Mh] Termos MeSH primário: Doenças do Gato/genética
Testes Genéticos/veterinária
Variação Genética
Mucopolissacaridose VI/veterinária
[Mh] Termos MeSH secundário: Animais
Cruzamento
Doenças do Gato/prevenção & controle
Gatos
Testes Genéticos/ética
Testes Genéticos/normas
Genótipo
Mucopolissacaridose VI/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160703
[St] Status:MEDLINE
[do] DOI:10.1186/s12917-016-0764-y


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[PMID]:27343522
[Au] Autor:Torre S; Scarpelli M; Salviati A; Buffone E; Faggian G; Luciani GB
[Ad] Endereço:Section of Cardiac Surgery, Department of Surgery, University of Verona, Verona, Italy.
[Ti] Título:Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era.
[So] Source:Ann Thorac Surg;102(1):e23-5, 2016 Jul.
[Is] ISSN:1552-6259
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Open-heart operations in patients with mucopolysaccharidoses are exceedingly rare and pose distinct clinical challenges. Few reports exist of valve replacement in type VI mucopolysaccharidosis, mostly entailing combined mitral and aortic valve replacement. Here reported is the case of a young woman with mitral and aortic valve disease, in whom the surgical procedure was confined to the aortic valve. The rationale behind this strategy, particularly in light of the benefits offered by specific enzyme replacement therapy of type VI mucopolysaccharidosis, is discussed.
[Mh] Termos MeSH primário: Valva Aórtica/cirurgia
Valva Mitral/cirurgia
Mucopolissacaridose VI/complicações
[Mh] Termos MeSH secundário: Adulto
Estenose da Valva Aórtica/cirurgia
Terapia de Reposição de Enzimas
Feminino
Seres Humanos
Estenose da Valva Mitral/cirurgia
Mucopolissacaridose VI/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160626
[St] Status:MEDLINE


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[PMID]:27164636
[Au] Autor:Kör D; Seker Yilmaz B; Bulut FD; Önenli Mungan N; Ufuk Altintas D
[Ad] Endereço:Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
[Ti] Título:A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.
[So] Source:J Investig Allergol Clin Immunol;26(2):130-2, 2016.
[Is] ISSN:1018-9068
[Cp] País de publicação:Spain
[La] Idioma:eng
[Mh] Termos MeSH primário: Dessensibilização Imunológica/métodos
Terapia de Reposição de Enzimas
Mucopolissacaridose VI/tratamento farmacológico
N-Acetilgalactosamina-4-Sulfatase/uso terapêutico
[Mh] Termos MeSH secundário: Pré-Escolar
Esquema de Medicação
Seres Humanos
Masculino
Metilprednisolona/uso terapêutico
Mucopolissacaridose VI/diagnóstico
Mucopolissacaridose VI/imunologia
Mucopolissacaridose VI/patologia
Feniramina/uso terapêutico
Proteínas Recombinantes/uso terapêutico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Recombinant Proteins); 134FM9ZZ6M (Pheniramine); EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.1.6.12 (galsulfase); X4W7ZR7023 (Methylprednisolone)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160511
[Lr] Data última revisão:
160511
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE
[do] DOI:10.18176/jiaci.0030


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[PMID]:27144408
[Au] Autor:Capanoglu M; Dibek Misirlioglu E; Azkur D; Vezir E; Guvenir H; Gunduz M; Toyran M; Civelek E; Kocabas CN
[Ad] Endereço:Department of Pediatric Allergy and Immunology, Ankara Children's Hematology and Oncology Hospital, Ankara, Turkey.
[Ti] Título:IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.
[So] Source:Int Arch Allergy Immunol;169(3):198-202, 2016.
[Is] ISSN:1423-0097
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Enzyme replacement therapy (ERT) is important for the treatment of lysosomal storage disorders. Hypersensitivity reactions with ERT have been reported, and in these cases, desensitisation with the enzyme is necessary. Here we report the cases of 3 patients with lysosomal storage disorders, including Pompe disease and mucopolysaccharidosis type I and VI, who had IgE-mediated hypersensitivity reactions and positive skin tests. Successful desensitisation protocols with the culprit enzyme solution were used for these patients. All 3 patients were able to safely receive ERT with the desensitisation protocol.
[Mh] Termos MeSH primário: Dessensibilização Imunológica
Terapia de Reposição de Enzimas/efeitos adversos
Enzimas/efeitos adversos
Doença de Depósito de Glicogênio Tipo II/complicações
Hipersensibilidade Imediata/complicações
Hipersensibilidade Imediata/terapia
Mucopolissacaridose I/complicações
Mucopolissacaridose VI/complicações
[Mh] Termos MeSH secundário: Alérgenos/imunologia
Pré-Escolar
Enzimas/administração & dosagem
Feminino
Doença de Depósito de Glicogênio Tipo II/diagnóstico
Doença de Depósito de Glicogênio Tipo II/terapia
Seres Humanos
Hipersensibilidade Imediata/diagnóstico
Lactente
Masculino
Mucopolissacaridose I/diagnóstico
Mucopolissacaridose I/terapia
Mucopolissacaridose VI/diagnóstico
Mucopolissacaridose VI/terapia
N-Acetilgalactosamina-4-Sulfatase/administração & dosagem
N-Acetilgalactosamina-4-Sulfatase/imunologia
Proteínas Recombinantes/efeitos adversos
alfa-Glucosidases/administração & dosagem
alfa-Glucosidases/imunologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Allergens); 0 (Enzymes); 0 (Recombinant Proteins); EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase); EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE
[do] DOI:10.1159/000446154


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[PMID]:26968075
[Au] Autor:Karl R; Carola S; Regina E; Thomas N; Huber RM
[Ad] Endereço:University Children's Hospital, Dr. von Haunersches Kinderspital, Ludwig-Maximilians University, Munich, Germany. Electronic address: karl.reiter@med.uni-muenchen.de.
[Ti] Título:Tracheobronchial stents in mucopolysaccharidosis.
[So] Source:Int J Pediatr Otorhinolaryngol;83:187-92, 2016 Apr.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses. CASE REPORTS: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp.) in whom tracheal stents were placed to relieve severe tracheal obstruction. The first patient could be weaned from mechanical ventilation after stent placement but showed significant long-term stent-related morbidity. The second patient suffered a severe procedure-related complication due to positioning problems typical for MPS. CONCLUSIONS: Very good short-term success can be achieved with airway stent placement in patients with MPS and severe lower airway stenosis but a high risk of severe complications and important long-term morbidity have to be weighed against potential individual benefit.
[Mh] Termos MeSH primário: Obstrução das Vias Respiratórias/cirurgia
Mucopolissacaridose II/cirurgia
Mucopolissacaridose VI/cirurgia
Stents
Estenose Traqueal/cirurgia
Traqueostomia/métodos
[Mh] Termos MeSH secundário: Adolescente
Obstrução das Vias Respiratórias/etiologia
Broncografia
Criança
Seres Humanos
Masculino
Mucopolissacaridose II/complicações
Mucopolissacaridose VI/complicações
Qualidade de Vida
Tomografia Computadorizada por Raios X
Traqueia/patologia
Traqueia/cirurgia
Estenose Traqueal/etiologia
Traqueostomia/efeitos adversos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[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:160313
[St] Status:MEDLINE



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