Database : MEDLINE
Search on : Mucopolysaccharidosis and VI [Words]
References found : 707 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 71 go to page                         

  1 / 707 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29376740
[Au] Autor:Bulut E; Pektas E; Sivri HS; Bilginer B; Umaroglu MM; Ozgen B
[Ad] Address:1 Department of Radiology, Hacettepe University Faculty of Medicine , Ankara , Turkey.
[Ti] Title:Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI.
[So] Source:Br J Radiol;:20170744, 2018 Feb 13.
[Is] ISSN:1748-880X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To evaluate spinal MRI features of mucopolysaccharidosis (MPS) VI and to assess the correlation with clinical findings. METHODS: We retrospectively evaluated spinal MRI scans and clinical findings at the time of imaging in 14 patients (8 male, 6 female) with MPS VI. Craniometric measurements were performed and the images were assessed for bony anomalies, spinal stenosis and spinal cord compression. The degree of cervical cord compression was scored and correlated with neurological examination findings at the time of imaging. Vertebral alignment, structural changes in spinal ligaments and intervertebral discs were also assessed. RESULTS: All patients had cervical stenosis due to bony stenosis and thickened retrodental tissue (median: 6.05 mm, range 3.3-8 mm). Retrodental tissue thickness was found to increase with age (p = 0.042). Compressive myelopathy was detected at upper cervical level in 11 (79%) and lower thoracic level in 2 patients (14%). Significant inverse correlation was found between cervical myelopathy scores and neurological strength scores. The most common bony changes were hypo/dysplastic odontoid; cervical platyspondyly with anterior inferior beaking; thoracic posterior end plate depressions and lumbar posterior scalloping. Kyphosis due to retrolisthesis of the beaked lumbar vertebrae and acute sacrococcygeal angulations were other remarkable findings. CONCLUSION: MRI is an essential component in evaluation of spinal involvement in MPS VI, and scanning of the entire spine is recommended to rule out thoracic cord compression. Advances in knowledge: This study provides a detailed description of spinal MRI findings in MPS VI and underlines the role of MRI in management of cord compression.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher
[do] DOI:10.1259/bjr.20170744

  2 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy

[PMID]: 29202552
[Au] Autor:Abbasi S; Noruzinia M; Bashti O; Ahmadvand M; Salehi Chaleshtori AR; Mahootipou L
[Ad] Address:Department of Stem Cell Research, Sarem Women's Hospital, Tehran, Iran.
[Ti] Title:Another Novel Missense Mutation in ARSB Gene in Iran.
[So] Source:Acta Med Iran;55(9):585-590, 2017 Sep.
[Is] ISSN:1735-9694
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis VI (MPS-VI) is an infrequent autosomal recessive disorder caused by mutations in ARSB gene and deficiency in lysosomal enzyyme ARSB activities subsequently. This enzyme is essential for the breaking of glycosaminoglycans (GAGs) such as dermatan sulfate and chondroitin sulfate. ARSB dysfunction results in imperfect breakdown of GAGs and their accumulation in urine. Mutations in ARSB gene are the main players in MPS-VI disease and its clinical consequences. Most reported mutations are point mutations but there are some other examples in literature. Here we report a novel missense mutation in ARSB gene that is inherited as an autosomal recessive mode and probably explain the clinical status of the proband. This mutation replaces the threonine 92 by proline and alters ARSB structure. This is the most feasible scenario for clinical condition we described here. This novel mutation should be remarked for PND and PGD to improve the health and management of such families.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171205
[Lr] Last revision date:171205
[St] Status:In-Process

  3 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29157190
[Au] Autor:Wang P; Margolis C; Lin G; Buza EL; Quick S; Raj K; Han R; Giger U
[Ad] Address:1 Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[Ti] Title:Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene.
[So] Source:Vet Pathol;:300985817732115, 2017 Jan 01.
[Is] ISSN:1544-2217
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed. The urine mucopolysaccharide spot test was strongly positive predominantly due to the accumulation of dermatan sulfate. Enzyme assays in leukocytes and tissues indicated a deficiency of arylsulfatase B (ARSB) activity. Histologic examination revealed cytoplasmic vacuoles in many tissues. Analysis of the exonic ARSB DNA sequences from the affected puppy compared to the published canine genome sequence revealed a homozygous nonsense mutation (c.295C>T) in exon 1, replacing glutamine with a premature stop codon (p.Gln99*), predicting no enzyme synthesis. A polymerase chain reaction-based restriction fragment length polymorphism test was established to assist with the clinical diagnosis and breeding of Great Danes. This genotyping test revealed that the clinically healthy parents and some other relatives of the puppy were heterozygous for the mutant allele, but all 200 clinically healthy dogs screened including 15 Great Danes were homozygous for the normal allele. This ARSB mutation is the fourth identified genetic variant causing canine mucopolysaccharidosis VI. Mucopolysaccharidosis VI is the first lysosomal storage disorder described in Great Danes but does not appear to be widespread in this breed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171121
[Lr] Last revision date:171121
[St] Status:Publisher
[do] DOI:10.1177/0300985817732115

  4 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29046964
[Au] Autor:Koehne T; Köhn A; Friedrich RE; Kordes U; Schinke T; Muschol N; Kahl-Nieke B
[Ad] Address:Department of Orthodontics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. tkoehne@uke.de.
[Ti] Title:Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.
[So] Source:Clin Oral Investig;, 2017 Oct 18.
[Is] ISSN:1436-3771
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I. MATERIALS AND METHODS: One hundred head magnetic resonance images were retrospectively analyzed from 41 MPS and 27 control individuals. The width, height and length of the maxilla and mandible were plotted against age and the means of controls, MPS I, MPS II and MPS III were statistically compared. To determine the effect of HSCT in MPS I, jaw morphology was compared between MPS I patients with full donor chimerism versus patients with mixed/no donor chimerism. RESULTS: Maxillary dimensions were not statistically different between the MPS types. The height and length of the mandible were clearly smaller in MPS I as compared to those in controls, MPS II and MPS III. This was associated with progressive resorption of the mandibular condyles in MPS I, which was also observed in MPS II and VI, but not in MPS III or IVa. Whereas the success of HCST did not affect these changes, mandibular width was significantly smaller in MPS I individuals with full donor chimerism. CONCLUSION: MPS I individuals have a smaller mandible as compared to control, MPS II and MPS III individuals due to progressive condylar degeneration. These abnormalities are also evident following successful HSCT. CLINICAL RELEVANCE: Clinicians should be aware of specific differences in mandibular morphology and condylar involvement among the MPS subtypes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:Publisher
[do] DOI:10.1007/s00784-017-2240-x

  5 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28983456
[Au] Autor:Furujo M; Kosuga M; Okuyama T
[Ad] Address:Department of Pediatrics, National Okayama Medical Center, , 1711-1, Tamasu, Kita-ku, Okayama 701-1192, Japan.
[Ti] Title:Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up.
[So] Source:Mol Genet Metab Rep;13:69-75, 2017 Dec.
[Is] ISSN:2214-4269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by -acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulation of glycosaminoglycan. A previous case report highlighted that 3 years of ERT with recombinant human ASB (galsulfase) was well tolerated and effective in two Japanese siblings with MPS VI who initiated ERT at 5.6 years and 6 weeks of age, respectively. This report describes 10-year follow-up data from these two siblings who continued ERT with weekly infusions of galsulfase 1 mg/kg. Ten years of ERT was well tolerated, and the older sibling reached puberty. He had typical MPS VI phenotypic features, but exhibited significant improvement in shoulder range of motion and had largely unchanged hearing and cardiac function. His skeletal deformity remained unchanged. In contrast, in the younger sibling, typical symptoms of MPS VI, including progressive dysmorphic facial features, hepatosplenomegaly, and hearing impairment were largely absent. Her joint mobility was preserved, although skeletal deformity, including claw-hand deformity, was observed. Both siblings had progressive corneal clouding. The observations in these two patients suggest that early ERT initiated in newborns can be well tolerated and effective in preventing or slowing MPS VI disease progression, but is limited in terms of its effects on bone symptoms. For this, new approaches or bone-targeting treatments would be necessary.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171008
[Lr] Last revision date:171008
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.ymgmr.2017.08.007

  6 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Albano, Lilian Maria Jose
Full text

[PMID]: 28944140
[Au] Autor:Franco JFDS; El Dib R; Agarwal A; Soares D; Milhan NVM; Albano LMJ; Kim CA
[Ad] Address:Pediatric Department, Catholic University - PUC, Campinas, Brazil.
[Ti] Title:Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
[So] Source:Intractable Rare Dis Res;6(3):183-190, 2017 Aug.
[Is] ISSN:2186-3644
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI. Pediatric and adult patients were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB), 0.45 mg/kg alpha-L-iduronidase, or 0.5 mg/kg iduronate-2-sulfatase. Clinical and biochemical parameters with ERT were evaluated for a mean duration of 5 years. Mantel-Haenszel risk ratios and associated 95% confidence intervals (CIs) were calculated for rates of death among different types of enzyme replacement therapies (ERTs). Twenty-seven patients (mean ages ‒ pediatric: 6.8 years; adult: 29 years) were included. ERT was found to be consistently well tolerated and effective in attenuating symptoms, but did not prevent the progression of the disease or reduce mortality rates. Our findings demonstrated that early diagnosis and initiation of ERT are critical for improvements in patient-important outcomes and quality of life, although disease progression and mortality rates remain high.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170927
[Lr] Last revision date:170927
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.5582/irdr.2017.01036

  7 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28932756
[Au] Autor:Ferla R; Alliegro M; Marteau JB; Dell'Anno M; Nusco E; Pouillot S; Galimberti S; Valsecchi MG; Zuliani V; Auricchio A
[Ad] Address:Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli (Naples) 80078, Italy.
[Ti] Title:Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
[So] Source:Mol Ther Methods Clin Dev;6:143-158, 2017 Sep 15.
[Is] ISSN:2329-0501
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:In vivo gene therapy with adeno-associated viral (AAV) vectors is safe and effective in humans. We recently demonstrated that AAV8-mediated liver gene transfer is effective in animal models of mucopolysaccharidosis type VI (MPS VI), a rare lysosomal storage disease that is caused by arylsulfatase B (ARSB) deficiency. In preparing for a first-in-human trial, we performed non-clinical studies to assess the safety of intravenous administrations of AAV2/8.TBG. produced under good manufacturing practice-like conditions. No toxicity was observed in AAV-treated mice, except for a transient increase in alanine aminotransferase in females and thyroid epithelial hypertrophy. AAV2/8.TBG. biodistribution and expression confirmed the liver as the main site of both infection and transduction. Shedding and breeding studies suggest that the risk of both horizontal and germline transmission is minimal. An AAV dose-response study in MPS VI mice was performed to define the range of doses to be used in the clinical study. Overall, these data support the non-clinical safety and efficacy of AAV2/8.TBG. and pave the way for a phase I/II clinical trial based on intravascular infusions of AAV8 in patients with MPS VI.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170924
[Lr] Last revision date:170924
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1016/j.omtm.2017.07.004

  8 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28914427
[Au] Autor:Al-Sannaa NA; Al-Abdulwahed HY; Al-Majed SI; Bouholaigah IH
[Ad] Address:Pediatrics Service Division, Johns Hopkins Aramco Healthcare, Saudi Aramco, Dhahran, 31311, Saudi Arabia. nouriya.sannaa@jhah.com.
[Ti] Title:The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
[So] Source:J Community Genet;, 2017 Sep 15.
[Is] ISSN:1868-310X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B. It is involved in the degradation of glycosaminoglycans and characterized by a wide spectrum of clinical and genetic heterogeneity. So far, more than 150 mutations have been reported in the ARSB gene. Most of these mutations are either novel, private, or compound heterozygous making phenotype-genotype correlation as well as population screening difficult. The aim of our study is to determine the genotypes and phenotypes of MPS VI among the Saudi population at the Eastern Province of Saudi Arabia. The clinical data of all the patients seen and diagnosed with MPS VI (Maroteaux-Lamy syndrome) at the main hospital from January 1, 1983, to December 31, 2016, were reviewed. A total of 18 patients from 6 unrelated consanguineous families (first-cousin parents) were diagnosed with MPS VI during the defined 33 years. All of the affected patients displayed the severe phenotype of MPS VI. Only one genotype (c.753C > Gp.Y251X) was identified among five of the studied families. All of those families were inhabitants of Al-Hofuf area, but they descended from different clans. A second genotype (c270_274del5bp pc.91Afs*34) was detected in a single family who had originated from Abha area (the southern-west region of the country). This report demonstrated the homogeneity for both phenotype and genotype of our studied patients with MPS VI. This may eventually make selective asymptomatic carrier test and newborn screening highly feasible in this region of country.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170915
[Lr] Last revision date:170915
[St] Status:Publisher
[do] DOI:10.1007/s12687-017-0329-1

  9 / 707 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28884960
[Au] Autor:Kiliç M; Dursun A; Coskun T; Tokatli A; Özgül RK; Yücel-Yilmaz D; Karaca M; Dogru D; Alehan D; Kadayifçilar S; Genç A; Turan-Dizdar H; Gönüldas B; Savci S; Saglam M; Aksoy C; Arslan U; Sivri HS
[Ad] Address:Sami Ulus Children Hospital, Division of Metabolism, Ankara, Turkey.
[Ti] Title:Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
[So] Source:Am J Med Genet A;173(11):2954-2967, 2017 Nov.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171020
[Lr] Last revision date:171020
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.38459

  10 / 707 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 28733853
[Au] Autor:Matsubara Y; Miyazaki O; Kosuga M; Okuyama T; Nosaka S
[Ad] Address:Division of Radiology, National Center for Child Health and Development, Tokyo, Japan. matsuys@hiroshima-u.ac.jp.
[Ti] Title:Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis.
[So] Source:Pediatr Radiol;47(12):1659-1669, 2017 Nov.
[Is] ISSN:1432-1998
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. OBJECTIVE: To assess CNS involvement in mucopolysaccharidosis at the start of enzyme replacement therapy and to investigate the time course of ERT in the central nervous system. MATERIALS AND METHODS: We performed brain MRI in 17 children and young adults who underwent ERT. The clinical severity was classified as attenuated or severe by a specialist pediatrician, based on the clinical symptoms and genotypes. At the start of ERT, we scored nine parameters using two- or three-point scales based on the severity of the disease revealed on MRI scans. After the start of ERT, we compared the initial and follow-up MRI scans, and classified the findings as no change, improved or worse. We then compared the results with the changes in clinical findings. RESULTS: At the start of ERT, comparison of the clinical symptoms and image scores revealed differences between severe and attenuated mucopolysaccharidosis. The scores in patients with severe MPS ranged from 9 to 16 (mean 12.2); for patients with attenuated MPS, they ranged from 2 to 11 (mean 6.4). Images of the four patients with severe MPS showed ventricular dilation and brain atrophy. Such findings were made in only 2 of 13 patients with attenuated MPS. The results after the start of ERT showed that 11/17 (65%) patients manifested improvement or no change. All five patients with MPS I experienced improvement in some regions. There were no new lesions. One patient with MPS II experienced worsening of his CNS symptoms, and his MRI findings revealed more severe ventricular dilation, brain atrophy and white matter lesions. CONCLUSION: Ventricular dilation and brain atrophy on imaging studies might represent useful markers in predicting the severity of mucopolysaccharidosis and worsening of CNS symptoms. Enzyme replacement therapy improves CNS images in MPS I and has an inhibitory effect on the occurrence of new lesions in MPS II.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 171031
[Lr] Last revision date:171031
[St] Status:In-Process
[do] DOI:10.1007/s00247-017-3935-5


page 1 of 71 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information