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

Flaxseed flour addition on fatty acid profile and sensory properties of brazilian cheese roll Adição de farinha de linhaça no perfil de ácidos graxos e nas propriedades sensoriais do pão de queijo brasileiro

In recent decades, studies on human nutrition have emphasized the importance of omega-3 and 6 intake. Since flaxseed is a good source for such fatty acids, the aim of this study was to develop a Brazilian cheese roll enriched with flaxseed flour. Three formulations were produced to determine the intensity of some sensory attributes and to set the best composition for conducting a consumer acceptance test. In the selected formulation, it was determined the Brazilian cheese roll's expansion rate, its physico-chemical characteristics, fatty acid composition and acceptance rate. Regarding its flavor and general characteristics, the results showed a good acceptance of the cheese roll enriched with flaxseed flour. The product also presented an omega-6/omega-3 ratio of 7.32:1.0, which is within the recommended one. Therefore, the cheese roll enriched with flaxseed presents as a good alternative for the traditional one, specially concerning the omega-3 and omega-6 content, which aggregates nutritional and functional benefits to the product.<br>Nas últimas décadas, estudos sobre nutrição humana têm enfatizado a importância da ingestão de ômega 3 e 6. Considerando que a linhaça é uma boa fonte desses ácidos graxos, neste estudo, objetivou-se desenvolver um pão de queijo enriquecido com farinha de linhaça. Foram produzidas três formulações para determinar a intensidade de alguns atributos sensoriais e para definir a melhor composição para a realização do teste de aceitação com consumidores. Na formulação selecionada, foram determinadas a taxa de expansão do pão de queijo, suas características físico-químicas, perfil de ácidos graxos e o índices de aceitação. Em relação ao sabor e às características gerais, os resultados mostraram que o pão de queijo enriquecido com farinha de linhaça foi bem aceito pelos consumidores. O produto apresentou também uma razão de ômega 6/ômega 3 de 7,32:1,0, que está dentro do recomendado. Portanto, o pão de queijo enriquecido com linhaça parece ser uma boa alternativa ao pão de queijo tradicional, especialmente no que concerne ao seu conteúdo de ômega-3 e ômega-6, que agrega benefícios nutricionais e funcionais para o produto

Teores de ácidos graxos em ovos comerciais convencionais e modificados com ômega-3 Fatty acids levels in conventional and designer omega-3 commercial eggs

Objetivou-se comparar os teores de ácidos graxos em ovos comerciais convencionais e em ovos modificados com ômega-3. Foram utilizadas 864 poedeiras da linhagem Isa Brown aleatoriamente distribuídas em dois grupos, de modo que cada gaiola com quatro aves foi considerada uma repetição, totalizando 216 repetições. No grupo para produção de ovos convencionais, as aves foram alimentadas durante toda a vida produtiva com ração à base de milho e farelo de soja, enquanto, no grupo para produção de ovos modificados, foram alimentadas, a partir da 22ª semana de idade, com ração contendo 1,5% de substrato de algas marinhas e 1,8% de óleo de peixe. Foram coletados, aleatoriamente, 180 ovos de cada grupo de poedeira (totalizando 360 ovos), que foram distribuídos em delineamento de blocos ao acaso, considerando cada ovo uma repetição. Os ovos modificados com ômega-3 apresentaram menores de índice de gema, mas não diferiram dos ovos convencionais quanto aos demais parâmetros de qualidade. As médias de ácidos graxos poliinsaturados ômega-3 e de ácidos graxos monoinsaturados foram mais altas nos ovos modificados. As relações entre ácidos graxos poliinsaturados e saturados e entre ômega-6 e ômega-3 nos ovos modificados foram próximas ao ideal estimado para alimentação humana. As médias de ácidos graxos poliinsaturados da série ômega-6 e de ácidos graxos saturados nos ovos convencionais foram significativamente maiores que dos ovos modificados com ômega-3.<br>The objective of this work was to compare the levels of fatty acids between conventional commercial eggs and designer omega-3 eggs. It was used 864 Isa Brown line laying hens randomly distributed in two groups, so each cage with four birds was considered a replicate, totalizing 216 repetitions. In the group for production of conventional eggs, birds were fed corn- and soybean-based rations during the entire productive life while in the group for production of designer eggs, they were fed, from the 22nd week of age, rations with 1.5% of marine algae substrate and 1.8% fish oil. A total of 180 eggs was randomly collected from each group of the laying hens (totalizing 360 eggs), which were distributed in a randomized block design, considering each egg a replicate. Designer omega-3 eggs showed the lowest yolk index, but they did not differ from the conventional eggs regarded to the other parameters of quality. Means of omega-3 polyunsaturated fatty acids and monounsaturated fatty acids were higher for designer eggs. The relationships between polyunsaturated and saturated fatty acids and among omega-6 and omega-3 in designer eggs were close to the ideal estimated for human consumption. Means of the polyunsaturated fatty acids from the omega-6 series and of saturated fatty acids were significantly higher than omega-3 designer eggs

Brazilian Flora 2020: Leveraging the power of a collaborative scientific network

International audienceThe shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiversity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxonomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world's known plant species than any other country. Despite that, Flora Brasiliensis, concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world's most biodiverse countries. We further identify collection gaps and summarize future goals that extend beyond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still unequally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the country. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora

The Influence of Vitamin D on Neurodegeneration and Neurological Disorders: A Rationale for its Physio-pathological Actions

International audienc

Growing knowledge: an overview of Seed Plant diversity in Brazil

Abstract An updated inventory of Brazilian seed plants is presented and offers important insights into the country's biodiversity. This work started in 2010, with the publication of the Plants and Fungi Catalogue, and has been updated since by more than 430 specialists working online. Brazil is home to 32,086 native Angiosperms and 23 native Gymnosperms, showing an increase of 3% in its species richness in relation to 2010. The Amazon Rainforest is the richest Brazilian biome for Gymnosperms, while the Atlantic Rainforest is the richest one for Angiosperms. There was a considerable increment in the number of species and endemism rates for biomes, except for the Amazon that showed a decrease of 2.5% of recorded endemics. However, well over half of Brazillian seed plant species (57.4%) is endemic to this territory. The proportion of life-forms varies among different biomes: trees are more expressive in the Amazon and Atlantic Rainforest biomes while herbs predominate in the Pampa, and lianas are more expressive in the Amazon, Atlantic Rainforest, and Pantanal. This compilation serves not only to quantify Brazilian biodiversity, but also to highlight areas where there information is lacking and to provide a framework for the challenge faced in conserving Brazil's unique and diverse flora