Database : MEDLINE
Search on : Mucopolysaccharidoses [Words]
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[PMID]: 29506582
[Au] Autor:Chlebowski MM; Heese BA; Malloy-Walton LE
[Ad] Address:1Department of Pediatric Cardiology,Children's Mercy,Kansas City,MO,USA.
[Ti] Title:Early childhood onset of high-grade atrioventricular block in Hunter syndrome.
[So] Source:Cardiol Young;:1-2, 2018 Mar 06.
[Is] ISSN:1467-1107
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cardiac involvement has been reported in various mucopolysaccharidoses syndromes. Cardiac valve pathology is the most prominent cardiac manifestation of patients with these syndromes. To date, there have been no reports of early childhood onset of high-grade atrioventricular block in patients with Hunter syndrome. We present a case of a 3-year-old boy with Hunter syndrome who was found to have various degrees of atrioventricular block. This case highlights the importance of early routine cardiac screening for conduction abnormalities and close follow-up in patients with mucopolysaccharidoses syndromes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1017/S1047951118000215

  2 / 2481 MEDLINE  
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[PMID]: 29487322
[Au] Autor:Makino E; Klodnitsky H; Leonard J; Lillie J; Lund TC; Marshall J; Nietupski J; Orchard PJ; Miller WP; Phaneuf C; Tietz D; Varban ML; Donovan M; Belenki A
[Ad] Address:Drug Discovery, R&D, Sanofi, Waltham, MA, 02451, USA. elina.makino@sanofi.com.
[Ti] Title:Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.
[So] Source:Sci Rep;8(1):3681, 2018 Feb 27.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Certain recessively inherited diseases result from an enzyme deficiency within lysosomes. In mucopolysaccharidoses (MPS), a defect in glycosaminoglycan (GAG) degradation leads to GAG accumulation followed by progressive organ and multiple system dysfunctions. Current methods of GAG analysis used to diagnose and monitor the diseases lack sensitivity and throughput. Here we report a LC-MS method with accurate metabolite mass analysis for identifying and quantifying biomarkers for MPS type I without the need for extensive sample preparation. The method revealed 225 LC-MS features that were >1000-fold enriched in urine, plasma and tissue extracts from untreated MPS I mice compared to MPS I mice treated with iduronidase to correct the disorder. Levels of several trisaccharides were elevated >10000-fold. To validate the clinical relevance of our method, we confirmed the presence of these biomarkers in urine, plasma and cerebrospinal fluid from MPS I patients and assessed changes in their levels after treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-22078-2

  3 / 2481 MEDLINE  
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[PMID]: 29397290
[Au] Autor:Ahrens-Nicklas R; Schlotawa L; Ballabio A; Brunetti-Pierri N; De Castro M; Dierks T; Eichler F; Ficicioglu C; Finglas A; Gaertner J; Kirmse B; Klepper J; Lee M; Olsen A; Parenti G; Vossough A; Vanderver A; Adang LA
[Ad] Address:Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: ahrensnicklasr@email.chop.edu.
[Ti] Title:Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
[So] Source:Mol Genet Metab;123(3):337-346, 2018 Mar.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype that has not been fully characterized to date. In this report, we describe two individuals with distinct clinical presentations of MSD. Also, we detail a comprehensive systems-based approach to the management of individuals with MSD, from the initial diagnostic evaluation to unique multisystem issues and potential management options. As there have been no natural history studies to date, the recommendations within this report are based on published studies and consensus opinion and underscore the need for future research on evidence-based outcomes to improve management of children with MSD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review

  4 / 2481 MEDLINE  
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[PMID]: 29478001
[Au] Autor:Chakraborty PP; Patra S; Biswas SN; Barman H
[Ad] Address:Department of Medicine, Midnapore Medical College and Hospital, Midnapore, India.
[Ti] Title:Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis.
[So] Source:BMJ Case Rep;2018, 2018 Feb 23.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:In-Data-Review

  5 / 2481 MEDLINE  
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[PMID]: 29275451
[Au] Autor:Szklanny K; Gubrynowicz R; Tylki-Szymanska A
[Ad] Address:Multimedia Department, Polish-Japanese Academy of Information Technology, Warsaw, Poland. kszklanny@pjwstk.edu.pl.
[Ti] Title:Voice alterations in patients with Morquio A syndrome.
[So] Source:J Appl Genet;59(1):73-80, 2018 Feb.
[Is] ISSN:2190-3883
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract. The aim of the study was to assess voice alterations using noninvasive acoustic and electroglottographic voice analysis. Electroglottographic signal and acoustic analyses revealed considerable changes in the voices of patients with Morquio A syndrome when compared to the voices of healthy controls. Affected patients tended toward tense voice, incomplete glottal closure, increased incidence of vocal fold nodules, dysphonia, and hoarse voice. Morquio A syndrome is characterized by connective tissue disease, which adversely affects voice quality. The use of objective voice analysis makes it possible to quantitatively monitor changes in the vocal apparatus over the course of disease progression, and also allows for assessment of the effects of the enzyme replacement therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:In-Process
[do] DOI:10.1007/s13353-017-0421-6

  6 / 2481 MEDLINE  
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[PMID]: 29295764
[Au] Autor:Sawamoto K; Chen HH; Alméciga-Díaz CJ; Mason RW; Tomatsu S
[Ad] Address:Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
[Ti] Title:Gene therapy for Mucopolysaccharidoses.
[So] Source:Mol Genet Metab;123(2):59-68, 2018 Feb.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency. Preclinical studies of gene therapy for MPS have been developed over the past three decades. Currently, clinical trials of gene therapy for some types of MPS are ongoing in the United States, some European countries, and Australia. Here, in this review, we summarize the development of gene therapy for MPS in preclinical and clinical trials.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:In-Data-Review

  7 / 2481 MEDLINE  
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[PMID]: 29396137
[Au] Autor:Lin HY; Chuang CK; Liu SC; Lin SP
[Ad] Address:Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department
[Ti] Title:Awareness of attenuated mucopolysaccharidoses in a pediatric orthopedic clinic.
[So] Source:Pediatr Neonatol;, 2018 Jan 09.
[Is] ISSN:2212-1692
[Cp] Country of publication:Singapore
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180203
[Lr] Last revision date:180203
[St] Status:Publisher

  8 / 2481 MEDLINE  
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[PMID]: 29334993
[Au] Autor:Oliveira MR; Schwartz I; Costa LS; Maia H; Ribeiro M; Guerreiro LB; Acosta A; Rocha NS
[Ad] Address:Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Santa Cecília, Porto Alegre, RS, 90035-903, Brazil.
[Ti] Title:Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique.
[So] Source:BMC Res Notes;11(1):28, 2018 Jan 15.
[Is] ISSN:1756-0500
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro). RESULTS: Three versions of the new instrument were developed, each for a different age group: children (age 8-12 years), adolescents (age 13-17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO-World Health Organization) and its facets apply to this patient population. However, other specific facets-particularly concerning clinical manifestations and the reality of the disease-were suggested, confirming the need for the development of a specific QoL instrument for MPS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[St] Status:In-Process
[do] DOI:10.1186/s13104-018-3157-4

  9 / 2481 MEDLINE  
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[PMID]: 29200150
[Au] Autor:Lukefahr AL; Proytcheva M
[Ad] Address:Department of Pathology, The University of Arizona College of Medicine, Tucson/Banner University Medical Center-Tucson, Tucson, AZ.
[Ti] Title:Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome.
[So] Source:J Pediatr Hematol Oncol;40(1):74-75, 2018 Jan.
[Is] ISSN:1536-3678
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysaccharidoses is the presence of numerous, dark lilac granules within lymphocytes, monocytes, and neutrophils, also known at Alder-Reilly anomaly. Here we describe intracytoplasmic granules with haloes in mononuclear cells present in the cerebrospinal fluid of a 2-year-old boy with the diagnosis of Hurler syndrome, undergoing pretransplant evaluation for an unrelated donor cord blood stem cell transplant.
[Mh] MeSH terms primary: Cerebrospinal Fluid/cytology
Cytoplasmic Granules/pathology
Leukocytes/pathology
Mucopolysaccharidosis I/complications
[Mh] MeSH terms secundary: Child, Preschool
Fatal Outcome
Hematopoietic Stem Cell Transplantation
Humans
Leukocytes/ultrastructure
Male
Mucopolysaccharidosis I/diagnosis
Sepsis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[Js] Journal subset:IM
[Da] Date of entry for processing:171205
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000001041

  10 / 2481 MEDLINE  
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[PMID]: 29299872
[Au] Autor:Schadewald A; Kimball E; Ou L
[Ad] Address:University of Minnesota Health, Minneapolis, MN, USA. aschade1@fairview.org.
[Ti] Title:Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis.
[So] Source:JIMD Rep;, 2018 Jan 04.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:The mucopolysaccharidoses are a set of rare, inherited conditions that can have a catastrophic impact on those affected and their families. Because of the rarity of these disorders, little is known regarding the challenges faced by families of those affected and what coping mechanisms are commonly used. Coping is a way to manage demands that occur in one's environment or within oneself. Medical social workers historically have facilitated this process while providing support to patients who are responding to pressures of their diagnosis and the system.A questionnaire of demographics and qualitative questions, along with the Pediatric Inventory for Parents (PIP) and Brief COPE, was sent by electronic survey to caregivers of children with MPS. The results of Brief COPE showed that problem-focused coping was more frequently used than emotion-focused (p < 0.001) or dysfunctional coping (p < 0.0001). Acceptance was the most frequently used coping strategy (p < 0.05). The results of PIP showed that emotionally distressing events were the most difficult (p < 0.001), while events related to medical care occurred at the highest frequency (p < 0.001). Psychosocial support provided by medical social workers significantly increased acceptance of caregivers (p = 0.04). Guidance on what to expect provided by any member of the care team increased denial (p = 0.02) and the difficulty of emotional distress (p = 0.04). This study identified commonly used coping strategies and measured stress among caregivers of children with MPS, as well as access to and use of psychosocial support services. Results highlight the urgency to improve the coverage and quality of psychosocial support and other support services.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180104
[Lr] Last revision date:180104
[St] Status:Publisher
[do] DOI:10.1007/8904_2017_87


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