No 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 friends. Aims: To evaluate the QoL of caregivers of patients with MPS. Methods: Cross-sectional study using a convenience sampling strategy. The sample comprised mothers of patients with MPS seen at the

ABSTRACT:The objective of this study is to evaluate the quality of life, stress, and occupational performance of caregiver mothers of children and adolescents diagnosed with autism. For the research, four instruments were used: WHOQOL-Bref, the Perceived Stress Scale, the Canadian Occupational Performance Measure and a questionnaire created by the researcher containing socioeconomic data and information about the child/adolescent. The study data suggest that there is a correlation between the variables and that caregiver mothers have a lower quality of life, high levels of stress, and low occupational performance.

Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA.

A equoterapia vem sendo utilizada como tratamento reabilitador em diferentes patologias, no entanto, sua eficácia ainda não é comprovada no que tange ao desempenho funcional de indivíduos com autismo. O objetivo deste estudo é identificar o efeito da equoterapia no desempenho funcional de crianças e adolescentes com autismo comparando praticantes e não praticantes. Participaram do estudo indivíduos com autismo com idades entre 3 e 15 anos, ambos os sexos divididos entre Praticantes e Não Praticantes, emparelhados por gênero e idade. Utilizou-se um questionário para avaliar variáveis socioeconômicas e para avaliação do desempenho funcional o Inventário de Avaliação Pediátrica de Incapacidade (PEDI) e a Medida de Independência Funcional (MIF), aplicados aos cuidadores, para <8 anos e >8 anos, respectivamente. Foram entrevistados 28 cuidadores (14 em cada grupo). Houve diferença para o desempenho funcional das crianças que praticavam equoterapia avaliados pelo PEDI na área de Autocuidado (p=0,041) e Mobilidade (p=0,001). Não houve diferença para o desempenho funcional daqueles avaliados pela MIF (p=0,384). Este estudo sugere que a equoterapia é eficaz para crianças com autismo, nas tarefas das áreas de mobilidade e autocuidado, sendo uma área inovadora para terapia ocupacional.

Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.

Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in GNPTG encoding the γ-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present with osteoarthritis and joint stiffness, suggesting cartilage involvement. Using Gnptgko mice as a model of the human disease, we showed that missorting of a number of lysosomal enzymes is associated with intracellular accumulation of chondroitin sulfate in Gnptgkochondrocytes and their impaired differentiation, as well as with an altered microstructure of the cartilage extracellular matrix (ECM). We also demonstrated distinct functional and structural properties of the Achilles tendons isolated from Gnptgko and Gnptabki mice, the latter displaying a more severe phenotype resembling mucolipidosis type II (MLII) in humans. Together with comparative analyses of joint mobility in MLII and MLIII patients, these findings provide a basis for better understanding of the molecular reasons leading to joint pathology in these patients. Our data suggest that lack of GlcNAc-1-phosphotransferase activity due to defects in the γ-subunit causes structural changes within the ECM of connective and mechanosensitive tissues, such as cartilage and tendon, and eventually results in functional joint abnormalities typically observed in MLIII gamma patients. This idea was supported by a deficit of the limb motor function in Gnptgko mice challenged on a Rotarod under fatigue-associated conditions, suggesting that the impaired motor performance of Gnptgko mice was caused by fatigue and/or pain at the joint.

<p>A gestação é um fenômeno biologicamente natural e é considerada de alto risco quando há maior perigo para a saúde da mãe e do feto, devido a alguma doença materna. O objetivo deste trabalho foi desenvolver e aplicar um manual de orientações e cuidados às gestantes de alto risco, identificando sua influência no desempenho ocupacional e estresse. Consiste em estudo transversal, de acompanhamento com avaliação antes e depois. Utilizou-se a Medida Canadense de Desempenho Ocupacional (COPM) e a Escala de Estresse Percebido (PPS-10). A amostra do estudo foi composta por onze gestantes de alto risco internadas. A COPM identificou 2,9 pontos para a área de Desempenho e 2,7 pontos para área de Satisfação com o desempenho na primeira avaliação e 4 pontos e 4,2, respectivamente, na segunda avaliação após a aplicação do Manual de Orientações. A PPS-10 indicou 21 pontos na primeira avaliação e 17,9 pontos na reavaliação. Nesse sentido, acredita-se que grupos de apoio às gestantes, estabelecendo espaços de diálogo e escuta, permitem a construção de alternativas para enfrentamento das dificuldades advindas da internação.</p>