Mucopolysaccharidosis
Mostrando 1-12 de 122 artigos, teses e dissertações.
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1. Audiological characteristics in mucopolysaccharidosis: a systematic literature review
RESUMO Objetivo: descrever as características audiológicas de pacientes com Mucopolissacaridose. Métodos: após formular a pergunta de pesquisa, foram consideradas três bases de dados (Science Direct, Biblioteca Virtual em Saúde e Web of Science), sendo utilizados os seguintes descritores: mucopolissacaridoses, perda auditiva, audiologia. Foram inclu�
Rev. CEFAC. Publicado em: 10/10/2019
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2. Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method,
Resumo Objetivo: A mucopolissacaridose é uma doença genética rara, caracterizada por depósito intralisossômico de glicosaminoglicanos. O comprometimento cardiovascular é frequente. Sinais e sintomas cardíacos são subestimados pelo envolvimento da doença em outros órgãos. A terapia de reposição enzimática pode ser usada em mucopolissacaridose I
J. Pediatr. (Rio J.). Publicado em: 12/09/2019
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3. Cuidado complexo, custo elevado e perda de renda: o que não é raro para as famílias de crianças e adolescentes com condições de saúde raras
Resumo: Estimativas apontam que há mais de 7 mil doenças raras já identificadas, que representam de 6 a 10% de todas as doenças no mundo. No Brasil, considera-se doença rara aquela que afeta até 65 pessoas em cada 100 mil indivíduos. Quantificar os custos para as famílias de pacientes com essas condições e o seu comprometimento sobre a renda fornec
Cad. Saúde Pública. Publicado em: 09/09/2019
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4. Impactos da hospitalização parcial recorrente sob a perspectiva de crianças e adolescentes com mucopolissacaridoses em um hospital pediátrico
Resumo O presente estudo teve como participantes crianças e adolescentes, entre sete e doze anos, que convivem com Mucopolissacaridose(s). O objetivo geral foi compreender os significados da internação semanal ou quinzenal no hospital dia de um Hospital Pediátrico do Rio de Janeiro na perspectiva das crianças e adolescentes com Mucopolissacaridose. Os o
Cad. Bras. Ter. Ocup.. Publicado em: 22/08/2019
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5. The Burden Endured by Caregivers of Patients With Morquio A Syndrome: Results From an International Patient-Reported Outcomes Survey
Abstract This international survey performed by direct personal interview or mail evaluated the global burden among primary caregivers of patients with Morquio A syndrome. Collected outcomes included self-reported time spent on caregiving, proportion of daily activities (from the Mucopolysaccharidosis Health Assessment Questionnaire) requiring caregiver assi
J. inborn errors metab. screen.. Publicado em: 15/07/2019
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6. Mucopolysaccharidosis VI: Evaluation After 2 Years of Treatment
Abstract Introduction: Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive. Aim: To present the evolution of a slowly progressive phenotype of MPS VI in
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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7. Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome
Abstract Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a lysosomal storage disorder caused by a deficient N-acetylgalactosamine-6-sulfate sulfatase activity, leading to cellular storage of undegraded keratan sulfate. Recently enzyme replacement therapy (ERT) was approved for MPS IVA, but some of ERT effects are still unknown. In the present stud
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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8. Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediar
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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9. A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome
Abstract Hunter syndrome (mucopolysaccharidosis II [MPS II]) is characterized by lysosomal glycosaminoglycan (GAG) accumulation. Although a majority of patients with MPS II experience neurocognitive involvement, few data are available on cerebrospinal fluid (CSF) GAG levels in these patients. This study measured GAG levels in CSF collected from 9 patients wi
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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10. β-Galactosidase Deficiency in Colombia: Report of 20 Patients Detected Using Dried Blood Spot Samples
Abstract β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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11. Mucopolysaccharidosis: Caregiver Quality of Life
Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and fri
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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12. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Abstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA r
Genet. Mol. Biol.. Publicado em: 10/06/2019