1000 resultados para Guidelines for LACUNY Dialogues


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Includes bibliography

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This guideline jointly published by The UN Economic and Social Commission for Asia and the Pacific (ESCAP), the UN Economic Commission for Latin America and the Caribbean (ECLAC), and the UN Human Settlements Programme (UN-HABITAT), in partnership with the Urban Design Lab of the Earth Institute, Columbia University, provides practical tools for city planners and decision makers to reform urban planning and infrastructure design according to the principles of eco-efficiency and social inclusiveness. It includes case studies from the Republic of Korea, the Philippines, Japan and Sri Lanka.

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Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.