Relevant bibliographies by topics / Mucopolysaccharidosis I

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Mucopolysaccharidosis I'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 February 2022

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Journal articles on the topic "Mucopolysaccharidosis I"

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Patel, Prajay, Georgia Antoniou, Damian Clark, David Ketteridge, and Nicole Williams. "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis." Journal of Child Neurology 35, no. 6 (March 11, 2020): 410–17. http://dx.doi.org/10.1177/0883073820904481.

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Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and frequency of screening for carpal tunnel syndrome in mucopolysaccharidosis patients and a review of carpal tunnel syndrome in patients seen in the multidisciplinary mucopolysaccharidosis clinic of a pediatric hospital, in order to develop screening recommendations. The literature reported the importance of routine carpal tunnel syndrome screening from early childhood in patients with mucopolysaccharidosis I, II, IV, and VI. Screening methods included physical examination, nerve conduction studies, electromyography, and ultrasonography. Ten of 20 mucopolysaccharidosis patients in our series underwent carpal tunnel syndrome surgery. Given the high incidence of carpal tunnel syndrome at a young age in mucopolysaccharidosis, the authors recommend performing physical examination and obtaining patient and caregiver history for carpal tunnel syndrome every 6 months from the time of mucopolysaccharidosis diagnosis, supplemented by annual nerve conduction studies in cases with poor history or equivocal examination.
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Kiem Hao, Tran, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc, and Nguyen Thi Kim Hoa. "A case study of three patients with mucopolysaccharidoses in Hue Central Hospital." SAGE Open Medical Case Reports 8 (January 2020): 2050313X2093824. http://dx.doi.org/10.1177/2050313x20938245.

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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—Mucopolysaccharidosis I, Morquio—Mucopolysaccharidosis IV A, and Maroteaux–Lamy—Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2 years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays.
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Osipova, L. A., L. M. Kuzenkova, L. S. Namazova-Baranova, A. K. Gevorkyan, T. V. Podkletnova, and N. D. Vashakmadze. "Sanfilippo Syndrome." Annals of the Russian academy of medical sciences 70, no. 4 (September 28, 2015): 419–27. http://dx.doi.org/10.15690/vramn.v70.i4.1407.

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Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. The pathogenic basis of the disease consists of the storage of undegraded substrate in the central nervous system. Progressive cognitive decline resulting in dementia and behavioural abnormalities are the main clinical characteristics of Sanfilippo syndrome. Mucopolysaccharidosis type III may be misdiagnosed as other forms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders because of lack of somatic symptoms, presence of mild and atypical forms of the disease. Patients with Sanfilippo syndrome may have comparatively low urinary glycosaminoglycans levels resulting in false negative urinary assay. Definitive diagnosis is made by enzyme assay on leucocytes and cultured fibroblasts. There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future.
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Clarke, Lorne A., Patricia Dickson, N. Matthew Ellinwood, and Terri L. Klein. "Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience." International Journal of Neonatal Screening 6, no. 4 (November 19, 2020): 91. http://dx.doi.org/10.3390/ijns6040091.

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There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate remediation. The recent evaluation of a second-tier biomarker integrated into the MPS I newborn screening protocol has been demonstrated to greatly improve the precision and predictive value of newborn screening for this disorder. This commentary urges newborn screening programs to learn from these experiences and improve newborn screening for mucopolysaccharidosis I and future mucopolysaccharidoses newborn screening programs by implementation of a second-tier biomarker analyte.
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Keilmann, A., F. Bendel, S. Nospes, C. Lampe, and A. K. Läßig. "Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses." Journal of Laryngology & Otology 130, no. 2 (December 17, 2015): 194–200. http://dx.doi.org/10.1017/s0022215115003357.

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AbstractObjective:This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy.Methods:A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 patients with mucopolysaccharidoses. Fifteen patients who started treatment with enzyme replacement therapy were followed longitudinally.Results:The most severe alterations were seen in the posterior region of the larynx and the arytenoids, and in the region of the false vocal folds. The alterations were most severe in patients with mucopolysaccharidosis II. No clear trend was observed in the patients who received enzyme replacement therapy.Conclusion:Quantification of mucosal alterations of the hypopharynx and larynx in mucopolysaccharidoses patients can provide information about the disease's natural process and about the efficacy of enzyme replacement therapy.
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Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10–20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.
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Chiu, Cheng-Hui. "Mucopolysaccharidosis." Tzu Chi Medical Journal 23, no. 2 (June 2011): 72. http://dx.doi.org/10.1016/j.tcmj.2011.04.004.

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Guarany, Nicole Ruas, Ana Paula Vanz, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani, and Ida Vanessa Doederlein Schwartz. "Mucopolysaccharidosis." Journal of Inborn Errors of Metabolism and Screening 3 (February 18, 2015): 232640981561380. http://dx.doi.org/10.1177/2326409815613804.

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Anandan, Ajay Kumar, and P. Sharanya. "Mucopolysaccharidosis and Anesthetic Challenges." Indian Journal of Anesthesia and Analgesia 6, no. 5 (P-2) (2019): 1863–65. http://dx.doi.org/10.21088/ijaa.2349.8471.6519.54.

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Bassyouni, H. T. "Mucopolysaccharidosis type I: clinical and biochemical study." Eastern Mediterranean Health Journal 6, no. 2-3 (June 15, 2000): 359–66. http://dx.doi.org/10.26719/2000.6.2-3.359.

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Of 1240 outpatients referred to the Human Genetics Clinic between 1997 and 1998, 248 [20%]had inborn errors of metabolism, 36 [14%] of which were diagnosed as mucopolysaccharidoses. Parental consanguinity was present in 82% of these patients. Deficiency of alpha-L-iduronidase [IDUA] enzyme in leukocytes and increased urinary mucopolysaccharides excretion were detected in 17 patients. The urinary spot test for glucosaminoglycans was inconclusive in 4 of the 17 cases. Results showed a correlation between the biochemical enzyme activity in leukocytes, the amount of excreted mucopolysaccharides and the subtype and course of mucopolysaccharidosis type I. We conclude that estimation of IDUA enzyme activity in leukocytes can differentiate between clinically overlapping cases of MPS I and MPS II and given the clinical manifestations of MPS I is a definitive and unequivocal method of diagnosis while the urinary spot test is inconclusive
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Dissertations / Theses on the topic "Mucopolysaccharidosis I"

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Pereira, Cátia Daniela Isaías. "Lymphocyte populations in Mucopolysaccharidosis patients." Master's thesis, Universidade de Aveiro, 2015. http://hdl.handle.net/10773/15580.

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Mestrado em Biomedicina molecular
As doenças de sobrecarga lisossomal (DSLs) constituem um grupo de distúrbios metabólicos raros maioritariamente causados por mutações em hidrolases lisossomais, que conduzem à acumulação anormal de diferentes substratos macromoleculares no interior do lisossoma. Este trabalho é focado nas mucopolissacaridoses (MPSs), um grupo de DSLs resultantes da atividade deficiente de enzimas envolvidas no catabolismo dos glicosaminoglicanos. A MPS II é caraterizada pela perda de atividade da enzima iduronato-2-sulfatase, levando ao armazenamento intralisossomal de sulfato de dermatano e sulfato de heparano. A MPS VI é definida pela acumulação de sulfato de dermatano dentro do lisossoma, devido a uma deficiência na atividade enzimática de arilsulfatase B. O lisossoma é um compartimento celular importante para o funcionamento normal do sistema imunitário. Em diversos modelos de DSLs, foram anteriormente descritas alterações nas células do sistema imunitário. Os principais objetivos do presente trabalho eram: (i) estudar as várias populações leucocitárias – incluindo células T e seus subconjuntos, células natural killer (NK), células B e suas subpopulações, e monócitos – no sangue periférico de doentes com MPS II e MPS VI; (ii) produzir linhas de células B transformadas pelo vírus Epstein–Barr (EBV) destes pacientes, assim como avaliar a eficácia na sua produção e determinar o seu fenótipo. A caraterização do sistema imunitário nas doenças MPS II e MPS VI revelou um decréscimo significativo na frequência de células NK e monócitos em doentes com MPS VI, mas não em doentes com MPS II, em comparação com indivíduos controle. Em contraste, não foram identificadas alterações na percentagem de células T, células natural killer T invariantes (iNKT) e células B nos grupos de doentes com MPS II e MPS VI, comparando com o grupo controlo. A análise detalhada do estado de memória de células T auxiliares e células T citotóxicas revelou desequilíbrios nos fenótipos naïve e de memória em ambos os compartimentos de células T em doentes com MPS VI, mas não em doentes com MPS II, em comparação com indivíduos controle. As linhas de células B transformadas pelo EBV foram produzidas com sucesso nos dois grupos de doentes com MPS, mas a eficácia na sua produção foi superior no caso dos doentes com MPS VI, comparando com os indivíduos controle e doentes com MPS II. O fenótipo predominante das linhas de células B transformadas pelo EBV era similar entre ambos os grupos de doentes com MPS e o grupo controlo, o qual foi avaliado como sendo correspondente à subpopulação de células B de memória duplamente negativas. Em conclusão, este trabalho permitiu caraterizar melhor o sistema imunitário nestas duas doenças raras.
Lysosomal storage diseases (LSDs) constitute a group of rare metabolic disorders mostly caused by mutations in lysosomal hydrolases, which conduce to abnormal accumulation of different macromolecular substrates inside the lysosome. This work is focused on the mucopolysaccharidoses (MPSs), a group of LSDs arising from the deficient activity of enzymes involved in the catabolism of glycosaminoglycans. The MPS II is characterized by loss of activity of the enzyme iduronate-2-sulfatase, leading to the intralysosomal storage of dermatan sulfate and heparan sulfate. The MPS VI is defined by the accumulation of dermatan sulfate within the lysosome, owing to a deficiency in the enzymatic activity of arylsulfatase B. The lysosome is an important cellular compartment for the normal functioning of the immune system. In several models of LSDs, alterations in the immune system cells were previously described. The main aims of the present work were: (i) to study the various leukocyte populations – including T cells and their subsets, natural killer (NK) cells, B cells and their subpopulations, and monocytes – in the peripheral blood of MPS II and MPS VI patients; (ii) to produce Epstein–Barr virus (EBV)- -transformed B cell lines from these patients, as well as to evaluate the efficacy in their generation and determine their phenotype. The characterization of the immune system in MPS II and MPS VI diseases revealed a significant decrease in the frequency of NK cells and monocytes in MPS VI patients, but not in MPS II patients, in comparison with control subjects. In contrast, no alterations were identified in the percentage of T cells, invariant natural killer T (iNKT) cells, and B cells in the groups of MPS II and MPS VI patients comparing with the control group. The detailed analysis of the memory state of helper T cells and cytotoxic T cells revealed imbalances in the naïve and memory phenotypes in both T cell compartments in MPS VI patients, but not in MPS II patients, as compared with control subjects. The EBV-transformed B cell lines were successfully produced in the two MPS patient groups, but the efficacy in their generation was higher in the case of MPS VI patients when comparing with control subjects and MPS II patients. The predominant phenotype of EBV-transformed B cell lines was similar between both groups of MPS patients and the control group, which was assessed as corresponding to the double-negative memory B cell subpopulation. In conclusion, this work allowed to better characterize the immune system in these two rare diseases.
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Lutzko, Carolyn Mary. "Gene therapy for canine mucopolysaccharidosis type I." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0006/NQ41221.pdf.

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Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

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Scott, Hamish Steele. "The molecular genetics of mucopolysaccharidosis type I /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phs426.pdf.

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Lopes, Nuno Duarte Ribeiro. "iNKT cells in mucopolysaccharidosis type II patients." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/11621.

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Mestrado em Biomedicina Molecular
A Mucopolissacaridose tipo II (MPS II) é uma Doença de Sobrecarga Lisossomal (LSD) pertencente às mucopolissacaridoses. É caracterizada pela acumulação de sulfato de heparan e dermatan devido à deficiência na enzima lisossomal Iduronato 2-Sulfatase. O lisossoma é um compartimento importante para a atividade dos linfócitos iNKT (iNKT). Os linfócitos iNKT são linfócitos T restritos a lípidos envolvidos na infeção, autoimunidade e vigilância tumoral. Estudos anteriores em modelos de murganhos de LSDs demonstraram uma redução do número de linfócitos iNKT assim como alterações nas subpopulações de linfócitos iNKT. Apesar destes resultados, investigação similar em doentes humanos foi ainda pouco abordada. Aqui, analisamos pela primeira vez os linfócitos iNKT de doentes com MPS II. Os dados foram recolhidos através da análise por citometria de fluxo de Células Mononucleares do Sangue Periférico de doentes com MPS II. Os doentes com MPS II não apresentavam diferenças nos linfócitos iNKT totais nem nas subpopulações de linfócitos iNKT. Fenotipicamente, não foram encontradas, nestas células, alterações na expressão de marcadores de ativação e de linfócitos NK. Uma vez que a ativação de linfócitos iNKT requer o funcionamento do lisossoma das células apresentadoras de antigénios, analisámos as suas frequências e fenótipos. Foram encontradas reduções significativas nos monócitos de doentes e não foram encontradas alterações nas restantes células. Não foram encontradas alterações fenotípicas nas células apresentadoras de antigénios. A comparação dos resultados apresentados nesta tese com os resultados previamente obtidos no nosso laboratório para outras LSD sugere que o desenvolvimento dos linfócitos iNKT é influenciado pela natureza das moléculas acumuladas. Descrevemos ainda pela primeira vez alterações na percentagem de monócitos no sangue de doentes com MPS II.
Mucopolysaccharidosis type II (MPS II) is a Lysosomal Storage Disorder (LSD) belonging to the group of mucopolysaccharidoses. It is characterised by the accumulation of heparan and dermatan sulfate due to deficiency of the lysosomal enzyme Iduronate 2-Sulfatase. The lysosome is an important compartment for the activity of invariant Natural Killer T cells (iNKT). iNKT cells are lipid-specific T cells that were shown to be important in infection, autoimmunity and tumour surveillance. Previous studies in mouse models of LSDs have shown a decrease in iNKT cell numbers and alterations in iNKT cell subsets. In spite of these findings, similar research in human patients has been poorly addressed. Herein, we analysed for the first time iNKT cells from Mucopolysaccharidosis type II patients. Data was acquired through flow cytometry analysis of Peripheral Blood Mononuclear Cells from MPS II patients. MPS II patients did not present differences in total iNKT cells neither in iNKT cell subsets. Phenotypically, no differences have been found in the expression of activation and NK cells markers. Since iNKT cell activation requires a functioning lysosome of antigen presenting cells, we analysed their frequency and phenotype. We have found a significant reduction in monocytes from patients and no differences in the other cells. Furthermore, no phenotypical alterations have been found in antigen presenting cells. The comparison of the results presented in this thesis with the results previously obtained by our laboratory in other LSD suggests that iNKT cell development is influenced by the nature of the accumulated molecules. We also described for the first time alterations in the percentage of monocytes in the peripheral blood of MPS II patients.
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Maia, Maria da Luz Galante. "Lipid specific T cells in Mucopolysaccharidosis VI patients." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10388.

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Mestrado em Biologia Molecular e Celular
Doenças de sobrecarga lisossomal (DSL) são um grupo de doenças metabólicas hereditárias causadas pela acumulação de moléculas não degradadas nos lisossomas, devido sobretudo a defeitos em enzimas lisossomais. Mucopolissacaridoses são DSL caracterizadas pela acumulação de glicosaminoglicanos anteriormente designados mucopolissacarídeos. O foco deste trabalho é a Mucopolissacaridose tipo VI (MPS VI), que resulta da defeciência de uma hidrolase lisossomal (Arylsulfatase B) responsável pela degradação do sulfato de dermatan, o que leva á acumulação desta macromolécula nos doentes. O lisossoma é um organelo importante na apresentação de antigénios lipídicos ás células T. A apresentação de antigénios lipídicos é mediada por moléculas CD1 existentes nas células apresentadoras de antigénios. A ligação do antigénio lipídico ás moléculas CD1 das células apresentadoras leva á activação das células T restritas a CD1 (NKT). Existem cinco isoformas de moléculas CD1 (a, b, c, d, e), mas apenas quatro são capazes de apresentar antigénios (a, b, c, d). Um dos locais na célula onde a associação das moléculas CD1 com os antigénios lipídicos ocorre é o lisossoma, portanto a apresentação de antigénios lipídicos pode estar afectada em doentes com DSL. Células NKT são um grupo heterogéneo de células T que partilham propriedades das células T e das células natural killer . Em humanos existem três subpopulações de células iNKT dependendo da expressão de CD4 e CD8: CD4+ (apenas expressam CD4), CD8+ (apenas expressam CD8) e duplas negativas (DN) que não expressam nenhumas das duas moléculas. Em estudos prévios foi observado em modelos animais de várias DSL uma diminuição na percentagem de células iNKT. Em doentes de Fabry e Gaucher não foram encontradas alteraçoes. O objectivo deste trabalho é estudar os linfócitos incluindo as células iNKT, as células dendríticas (como células apresentadoras de antigénios) e apresentação de antigénios lipídicos em doentes com MPS VI. Não foram encontradas alterações na percentagem de células iNKT assim como nas suas subpopulações entre doentes com MPS VI e indivíduos controlos. Curiosamente encontramos um aumento na percentagem de linfócitos B em doentes com MPS VI quando comparados com indivíduos controlo. Para determinar o fenótipo das células dendríticas três doentes foram analisados, encontramos para alguns destes doentes uma diminuição na expressão das moléculas CD1a, CD11c e HLA-DR (MHC-class II), mas para tirar mas conclusões mais doentes precisam ser analisados. Três doentes com MPS VI foram analisados para testar a capacidade das suas células dendríticas apresentarem antigénios lipídicos pela molécula CD1b. Não foram encontradas alterações na capacidade destes doentes apresentarem o antigénio lipídico GM1 pela molécula CD1b. Pela primeira vez foram realizados ensaios de apresentação de antigénios lipídicos em doentes com MPS.
Lysosomal storage diseases (LSD) are a group of hereditary metabolic disorders caused by accumulation of undegraded molecules in the lysosome, mainly due to the impairment of the function of lysosomal enzymes. Mucopolysaccharidoses are LSDs characterized by the accumulation of glycosaminoglycans previously designated Mucopolysaccharides. The focus of this work is the Mucopolysaccharidosis type VI (MPS VI), which is a disorder caused by a deficiency in a lysosomal hydrolase (Arylsulfatase B) responsible for the dermatan sulfate degradation, that leads to an accumulation of this macromolecule in the patients. Lysosome is an important organelle in the presentation of lipid antigen to T cells. Lipid antigen presentation is mediated by CD1 molecules existent in the antigen presenting cells. The binding of lipid antigens and the presenting cells containing CD1 molecules lead to activation of T cells that respond to those molecules. There are five isoforms of CD1 molecules (a, b, c, d, e), but only four are antigen presenting (a, b, c, d). One of the cell locations where the association of the CD1 molecules and lipid antigens occurs is the lysosome, so that means that antigen presentation could be affected in LSDs patients. NKT cells are a heterogeneous group of T cells that share properties with T cells and natural killer cells. In humans there are three subpopulations depending on the expression of CD4 and CD8 molecules: CD4+ (only express CD4), CD8+ (only express CD8) and double negative (DN) that do not express any of them. In previous studies a decrease in the percentage of iNKT cells were observed in mouse models of several LSDs. However in patients with Fabry and Gaucher diseases no alterations were found. The aim of this work is to study the lymphocytes including the iNKT cells, the dendritic cells (as antigen presenting cells) and the lipid antigen presentation in MPS VI patients. We found no alterations in the percentage of the iNKT cells and in their subsets between MPS VI patients and control subjects. Interestingly we found an increase in the percentage of the B lymphocyte population in MPS VI patients when compared with control subjects. For dendritic cells phenotype three patients were analyzed, we found for some of them a decrease of the expression of CD1a, CD11c and HLA-DR (MHC-class II) however, more patients need to be study before conclusions can be drawn. In lipid antigen presenting assays, three patients were tested for the capacity of their dendritic cells to present lipid antigens by CD1b molecule. We found no alterations in patients’ capacity to present the lipid antigen GM1 by CD1b molecule. Studies regarding the lipid antigen presentation were for the first time performed in MPS.
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O'Leary, H. A. ngharad E. S. G. "Heparan sulphate inhibits haematopoietic stem cell homing in mucopolysaccharidosis I." Thesis, University of Manchester, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.528510.

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Heppner, Jonathan Michael. "Early disruption of the extracellular matrix in murine mucopolysaccharidosis I." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/54160.

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Progressive skeletal and connective tissue disease is a major clinical burden in Mucopolysaccharidosis type I (MPS I). Although enzyme replacement therapies are available and improve some aspects of the disease, bone and joint disease is recalcitrant. The underlying pathogenic mechanisms of MPS I skeletal and connective tissue disease, and the basis of the recalcitrance to therapy, remain unknown. The classical view of MPS I describes somatic disease as the direct result of glycosaminoglycan (GAG) accumulation; however, it is now clear that many lysosomal storage disorders involve more complex pathogenic mechanisms than simple GAG storage. In order to understand the pathogenic mechanisms underlying skeletal and connective tissue disease in MPS I, I have used proteomic and genome wide expression studies of the femoral head growth plate cartilage, and functional studies of the murine MPS I model knee joint to identify early pathogenic events. Three and five-week-old mice were used; thus these studies represent a previously-unexamined time point at which underlying pathogenic mechanisms may be discovered. Unbiased iTRAQ differential proteomic and multiple reaction monitoring mass spectrometry approaches identified significant decreases in six key structural and signalling extracellular matrix proteins (biglycan, type I collagen, fibromodulin, lactotransferrin, proline/arginine-rich end leucine-rich repeat protein, and SERPINF1). Genome-wide expression studies in five-week growth plate cartilage revealed fourteen significantly deregulated mRNAs (Adamts4, asporin, chondroadherin, type II collagen, type IX collagen, hyaluronan and proteoglycan link protein, lumican, matrillin 1, matrix metalloproteinase 3, osteoglycin, osteomodulin, prolyl 4-hydroxylase, alpha polypeptide II, proline/arginine-rich end leucine-rich repeat protein, and member RAS oncogene family 32). The involvement of members of the small leucine repeat proteoglycan family (asporin, chondroadherin, osteoglycin, osteomodulin, and proline/arginine-rich end leucine-rich repeat protein) in MPS I disease pathogenesis is novel and intriguing, as these proteins are associated with the pathogenesis of osteoarthritis. Functional studies of the MPS I mouse knee joint suggested that early disruption of the extracellular matrix may predispose skeletal and connective tissues to late-stage degeneration. These results imply that biomechanical failure of chondro-osseous tissue may underlie skeletal and joint disease in MPS I. This represents a novel finding which has clear therapeutic implications.
Medicine, Faculty of
Medical Genetics, Department of
Graduate
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Crawley, Allison Catherine. "Enzyme replacement therapy in a feline model of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phc9107.pdf.

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Gliddon, Briony Lee. "Enzyme replacement therapy in a murine model of mucopolysaccharidosis type IIIA /." Title page, contents and abstract only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phg5595.pdf.

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Books on the topic "Mucopolysaccharidosis I"

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1935-, Graucob E., ed. Hematologic cytology of storage diseases. Berlin: Springer-Verlag, 1985.

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Hendriksz, Christian J., and Francois Karstens. Mucopolysaccharidosis in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0054.

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There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.
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National Institutes of Health (U.S.) and National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, eds. The mucopolysaccharidoses. Bethesda, Md: U.S. Dept. of Health and Human Services, National Institutes of Health, 2003.

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Lutzko, Carolyn Mary. Gene therapy for canine mucopolysaccharidosis type I. 1999.

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Karsten, Stanislav L. Molecular Investigation of Mucopolysaccharidosis Type II (Hunter Syndrome) in Man. Uppsala Universitet, 2000.

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Facey, Susan P. d. John. Application of 1,9-dimthylmethylene blue in the measurement of glycosaminoglycans for mucopolysaccharidosis screening. 1995.

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Hain, Richard D. W., and Satbir Singh Jassal. Specific non-malignant diseases. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198745457.003.0017.

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The number of life-limiting conditions in paediatrics is vast, and paediatric palliative medicine is generally based equally on both malignant and non-malignant conditions. There are several medical conditions that are common enough for it to be helpful to know about them in more detail. As all the conditions, by definition, have no cure, it is best to tackle each symptom with which the child presents individually, never forgetting that medical intervention is not the only modality open to us. Common conditions, such as Duchenne muscular dystrophy, mucopolysaccharidosis type 1, mucopolysaccharidosis type 3, Batten’s disease, spinal muscular atrophy, and trisomy 18, are covered in this chapter. Details of clinical features and prognosis are described for each.
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Smith, Ashley. Mucopolysaccharidoses. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0049.

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Mucopolysaccharidoses (MPS) are a group of genetic diseases that affect connective tissues via lack of key lysosomal enzymes. This deficiency leads to storage of partially degraded glycosaminoglycans that build up in multiple organ systems. There are many types of MPS disorders and each has varying features, expected lifespan, enzyme affected, and resulting clinical effect. All MPS are autosomal recessive except Hunter syndrome, which is X-linked. Because each type has a different enzyme deficiency, each has different comorbidities and unique treatment modalities. These patients require multiple anesthetics for diagnostic and surgical interventions. This chapter discusses treatment ad complication issues regarding MPS.
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Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.

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The mucopolysaccharidoses (MPS) are a group of seven chronic progressive diseases caused by deficiencies of 11 different lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs). Hurler syndrome (MPS IH) is an autosomal recessive storage disorder caused by a deficiency of α‎-L-iduronidase. Hunter syndrome (MPS II) is an X-linked recessive disorder of metabolism involving the enzyme iduronate-2-sulfatase. Many of the MPS clinical manifestations have potential anesthetic implications. Significant airway issues are particularly common due to thickening of the soft tissues, enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints. Spinal deformities, hepatosplenomegaly, airway granulomatous tissue, and recurrent lung infections may inhibit pulmonary function. Odontoid dysplasia and radiographic subluxation of C1 on C2 is common and may cause anterior dislocation of the atlas and spinal cord compression.
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Seipel, Catherine P., and Titilopemi A. O. Aina. Mucopolysaccharidoses. Edited by Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel, and Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0059.

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Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have implications for the anesthetic management of these patients. A detailed history and examination, with a focus on cardiopulmonary status and past airway management, is required pre-operatively. Enzyme replacement therapy and, in select cases, hematopoietic stem cell transplantation may modify disease progression. This chapter illustrates the perioperative considerations necessary to care for patients with this uncommon disease.
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Book chapters on the topic "Mucopolysaccharidosis I"

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Saha, Surajit. "Mucopolysaccharidosis." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_954-1.

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Saha, Surajit. "Mucopolysaccharidosis." In Encyclopedia of Ophthalmology, 1170–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_954.

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Danos, Olivier, and Jean-Michel Heard. "Mucopolysaccharidosis." In Molecular and Cell Biology of Human Gene Therapeutics, 350–67. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0547-7_17.

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Chen, Harold. "Mucopolysaccharidosis 2." In Atlas of Genetic Diagnosis and Counseling, 1905–12. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_162.

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Chen, Harold. "Mucopolysaccharidosis 3." In Atlas of Genetic Diagnosis and Counseling, 1913–21. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_163.

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Chen, Harold. "Mucopolysaccharidosis 4." In Atlas of Genetic Diagnosis and Counseling, 1923–33. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_164.

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Chen, Harold. "Mucopolysaccharidosis 6." In Atlas of Genetic Diagnosis and Counseling, 1935–42. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_165.

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Clarke, Lorne A. "Mucopolysaccharidosis I." In Lysosomal Storage Disorders, 389–405. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_24.

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Chen, Harold. "Mucopolysaccharidosis 2." In Atlas of Genetic Diagnosis and Counseling, 1–8. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_162-2.

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Chen, Harold. "Mucopolysaccharidosis 3." In Atlas of Genetic Diagnosis and Counseling, 1–8. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_163-2.

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Conference papers on the topic "Mucopolysaccharidosis I"

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Ochirova, Polina, Sergey Ryabykh, and Alexander Gubin. "P425 Surgical management of mucopolysaccharidosis -related spinal deformities." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.761.

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Hoffmann, AS, N. Muschol, K. Stumpfe, and C. Betz. "Smell and taste disorders in children with Mucopolysaccharidosis (MPS)." In Abstract- und Posterband – 90. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Digitalisierung in der HNO-Heilkunde. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1686577.

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Kuzenkova, Ludmila M., Liliya A. Osipova, Tatyana V. Podkletnova, Leila S. Namazova-Baranova, Galina V. Kuznetsova, Anait K. Gevorkyan, and Nato M. Vashakmadze. "P63 Subdural hematomas in a boy with mucopolysaccharidosis iiib." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.151.

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Sapundzhiev, N., L. Nikiforova, P. Drenakova, D. Petrov, and V. Platikanov. "Perioperative airway management in mucopolysaccharidosis type II: a case report." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710458.

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Sapundzhiev, N., L. Nikiforova, P. Drenakova, D. Petrov, and V. Platikanov. "Perioperative airway management in mucopolysaccharidosis type II: a case report." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710792.

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Muhlebach, Marianne, and Joseph Muenzer. "Longitudinal bronchoscopy findings in children with mucopolysaccharidosis II (MPS II)." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.3525.

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Facchina, Giulia, Alessandro Amaddeo, Sonia Khirani, Genevieve Baujat, Syril James, Sylvain Breton, and Brigitte Fauroux. "Retrospective analysis of sleep breathing disorders in mucopolysaccharidosis type IVA." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4590.

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Smith, Lachlan J., John T. Martin, Spencer E. Szczesny, Katherine P. Ponder, Mark E. Haskins, and Dawn M. Elliott. "Mucopolysaccharidosis VII and the Developing Lumbar Spine: Consequences for Annulus Fibrosus and Vertebral End Plate Mechanical Properties." In ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206489.

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Mucopolysaccharidosis VII (MPS VII) is a rare pediatric, hereditary disorder characterized by deficient activity of beta-glucuronidase, an enzyme that degrades chondroitin, dermatan and heparan sulfate glycosaminoglycans (GAGs) [1,2]. This deficiency leads to systemic lysosomal accumulation of GAGs, resulting in severely impaired physical and intellectual development, with patients frequently not surviving until adulthood. In the spine, the disease is characterized by poorly formed and aligned vertebral bodies, leading to high incidences of kyphosis and scoliosis [1–3].
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Figueirêdo, Bárbara Bernardo, Cyda Reinaux, Helen Kerlen Fuzari, Giovanna Domingues Cavalcanti, Cláudia Thaís Pinto, Paulo Magalhães, and Armèle Dornelas De Andrade. "Correlation of diaphragm mobility and thickness with anthropometric variables in mucopolysaccharidosis VI." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa4825.

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Bernardo Figueirêdo, Bárbara, Cyda Reinaux, Giovanna Domingues Cavalcanti, Helen Kerlen Fuzari, Cláudia Thais Pinto, Juliana Fernandes Barbosa, Paulo Magalhães, and Armèle Dornelas De Andrade. "Predictive equations overestimate the inspiratory muscle strength in children with mucopolysaccharidosis VI." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa913.

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