Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

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.

Assessment of aquatic plants in the reservoirs of AES-tietê and development of an integrated control model for the most important species.

The general objective of this work was to develop a monitoring and management model for aquatic plants that could be used in reservoir cascades in Brazil, using the reservoirs of AES-Tietê as a study case. The investigations were carried out at the reservoirs of Barra-Bonita, Bariri, Ibitinga, Promissão, and Nova-Avanhandava, located in the Tietê River Basin; Agua Vermelha, located in the Grande River Basin; Caconde, Limoeiro, and Euclides da Cunha, which are part of the Pardo River Basin; and the Mogi-Guaçu reservoir, which belongs to the Mogi-Guaçu River basin. The main products of this work were: development of techniques using satellite-generated images for monitoring and planning aquatic plant control; planning and construction of a boat to move coating plant masses and an airboat equipped with a DGPS navigation and application flow control system. Results allowed to conclude that the occurrence of all types of aquatic plants is directly associated with sedimentation process and, consequently, with nutrient and light availability. Reservoirs placed at the beginning of cascades are more subject to sedimentation and occurrence of marginal, floating and emerged plants, and are the priority when it comes to controlling these plants, since they provide a supply of weeds for the other reservoirs. Reservoirs placed downstream show smaller amounts of water-suspended solids, with greater transmission of light and occurrence of submerged plants.

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

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.