Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II : 7 years follow-up

Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II : 7 years follow-up

Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed

Relações entre profissionais de saúde e usuários durante as práticas em saúde Relationships between health professionals and users throughout health care practices

Apresenta-se uma revisão integrativa sobre estudos que abordam as relações entre profissionais de saúde e usuários durante as práticas em saúde. Objetivou-se identificar os aspectos pesquisados no cotidiano dos serviços acerca dessas relações. A coleta foi realizada nas bases Lilacs e Pubmed segundo os descritores: acolhimento; relações profissional-família; relações profissional-paciente; humanização da assistência; e a palavra 'vínculo' associada ao descritor Sistema Único de Saúde. Selecionaram-se 290 estudos publicados entre 1990 e 2010. Por meio da análise temática, foram criados cinco núcleos de sentido: a relevância da confiança na relação profissional-usuário; sentimentos e sentidos na prática do cuidado; a importância da comunicação nos serviços de saúde; modo de organização das práticas em saúde; e (des)colonialismo. Identificou-se que as relações estabelecidas nas práticas de saúde têm uma dimensão transformadora. No entanto, permanece o desafio de humanizar os serviços de saúde. A enfermagem se destaca na produção do conhecimento nessa temática.<br>This article presents an integrative review about studies that address the relationships between health professionals and users in health care practices. It aimed to identify aspects that were researched on the daily life of the services concerning such relationships. Data were collected from the Lilacs and Pubmed databases based on these descriptors: user embracement; professionalfamily relations; professionalpatient relations; humanization of the care; and the bonding word associated to the Single Health System descriptor. Two hundred and ninety studies, published from 1990 to 2010, were selected. Through thematic analyses, five meaning cores were created: the relevance of the confidence in the professionaluser relationship; feelings and senses in the health care practice; the importance of communications in health care services; ways to organize health care practices and (de)colonialism. It was found that relationships established in health care practices have a transformative dimension. However, the challenge to humanize health care services remains. Nursing stands out in the production of knowledge on such theme