Familial Amyloid Polyneuropathy: A Proposal for an Epidemiological Study Through the Creation of a Virtual Platform

Amyloidosis are characterized by mutations in the gene coding for transthyretin (TTR), located on chromosome 18. TTR is a set of four 127-aminoacid polypeptides structured as homotetrameric protein of 56 kDa with a secondary ß sheet structure. It plays the role of thyroxin (T4) carrier, and has a bindingdomain for retinol (vitamin A). It is synthesized in the liver, although a small quantity is also produced by the choroid plexus, and retinal cells. Mutations of this gene result in loss of tetramer stability. Insoluble amyloid fibrils (AF) are formed and deposited in tissues and organs. The abnormal aggregation ofTTR protein trigger several syndromes, such as familial amyloid polyneuropathy (FAP-TTR), cardiomyopathies (CMP), and senile systemic amyloidosis (SSA). It is estimated there are 5,000 to 10,000 cases of FAP-TTR globally. Objective: The study intends to develop an online platform for the diagnosis of FAP-TTR. The aim is to facilitate the diagnosis process and promote a tool for epidemiological study.Methods: The project was based on a literature review featuring clinical and epidemiological evidence for the development of a practical platform (applied research). Results: It was elaborated a platform containing a questionnaireto allow a more dynamic, cheaper, and efficient operation, mediated by a better characterization of the disease to enable its early diagnosis. Conclusion: The platform might become a valuable resource for the characterization, diagnosis, and future epidemiological study of FAP-TTR

Revisão integrativa da disfunção visuoespacial na Doença de Parkinson

Introdução: A Doença de Parkinson (DP) conta com uma miríade de sintomas que podem ser divididos em motores e não motores. Estes últimos ganham cada vez mais espaço no manejo clínico, uma vez que impactam sobremaneira a qualidade de vida. Nesse contexto, a disfunção visuoespacial representa um limitante em potencial na rotina de parkinsonianos, especialmente por não receber abordagem apropriada. Objetivo: Revisar a disfunção visuoespacial no âmbito da DP. Método: Realizamos uma revisão integrativa da literatura de maneira ampla e não delimitada. Utilizaram-se as palavras-chave “visuospatial” e “Parkinson” e seus correlatos em português e espanhol. Os critérios de inclusão foram: enquadramento na correlação da função visuoespacial e DP, textos nos idiomas português, espanhol ou inglês. Os critérios de exclusão estabelecidos foram: artigos de revisão, relatos de caso únicos ou série de casos com dez ou menos participantes com DP, artigos repetidos, trabalhos sem resumo ou quando esses, existindo, não incluam os termos DP e função visuoespacial. O levantamento bibliográfico foi realizado nas plataformas Google Acadêmico, Pubmed e Web of Science, além da pesquisa pelas palavras-chave nos sites das principais sociedades relacionadas ao tema: International Parkinson and Movement Disorder Society, American Parkinson Disease Association, European Parkinson Disease Association, Michel J Fox Foundation, American Academy of Neurology, Academia Brasileira de Neurologia e Associação Brasil Parkinson. Resultados: Identificou-se no período de 1984 a 2021, um total de 1442 resultados. Foram aplicados os critérios de exclusão. Após a primeira avaliação, guiada pelo título e resumo, selecionaram-se 113 artigos. Em seguida, foi realizada uma segunda avaliação guiada pela leitura na íntegra dos trabalhos, chegando-se ao número de 89. Além disso, utilizaram-se dados não experimentais considerados como pertinentes à composição desta pesquisa, encontrados nos sites das principais sociedades relacionadas ao tema. Discussão: No que diz respeito às disfunções presentes nos parkinsonianos, toda a via visual está potencialmente comprometida. O domínio cognitivo visuoespacial pode ser acessado por meio de testes neuropsicológicos específicos. A partir desses, verificaram-se características da disfunção visuoespacial em pacientes com DP como, o surgimento predominante na doença de início tardio, no subtipo rígido-acinético e naqueles com sintomas lateralizados à esquerda. Ademais, evidências sugerem ocorrência de associação da disfunção visuoespacial com alucinações visuais, distúrbios do sono e disautonomia. Déficits visuoespaciais podem causar um impacto negativo adicional à função motora. Conclusão: Evidencia-se a força da associação entre a maioria dos parkinsonianos e o déficit visuoespacial, especialmente no início da doença, sem relação com o déficit cognitivo global. Algumas características clínicas específicas desta correlação são mais claras, enquanto outras carecem de mais estudos para se estabelecer. Tendo em vista o impacto adicional que a habilidade visuoespacial ineficaz pode trazer ao cotidiano desses pacientes, e ainda o reconhecimento do caráter preditor para demência, justificam-se mais estudos e maior disseminação do conhecimentoIntroduction: Parkinson's disease (PD) has a myriad of symptoms that can be divided into motor and non-motor. The latter gain more and more space in clinical management, since they greatly impact the quality of life. In this context, visuospatial dysfunction represents a potential limiting factor in parkinsonian routine, especially because it does not receive an appropriate approach. Objective: To review visuospatial dysfunction within PD. Method: We conducted an integrative review of the literature in a broad and unlimited way. The keywords "visuospatial" and "Parkinson" and their correreports were used in Portuguese and Spanish. The inclusion criteria were: framing in the correlation of the visuospatial function and DP, texts in the Portuguese, Spanish or English. The exclusion criteria established were: review articles, single case reports or case series with ten or fewer participants with PD, repeated articles, papers without abstract or when these, existing, do not include the terms PD and visuospatial function. The bibliographic survey was conducted on the Google Scholar, Pubmed and Web of Science platforms, in addition to the search for keywords on the websites of the main societies related to the theme: International Parkinson and Movement Disorder Society, American Parkinson Disease Association, European Parkinson Disease Association, Michel J Fox Foundation, American Academy of Neurology, Academia Brasileira de Neurologia e Associação Brasil Parkinson. Results: A total of 1442 results were identified from 1984 to 2021. Exclusion criteria were applied. After the first evaluation, guided by the title and abstract, 113 articles were selected. Then, a second evaluation was carried out guided by the full reading of the papers, reaching the number of 89. In addition, non-experimental data considered as pertinent to the composition of this research were used, found on the websites of the main societies related to the theme. Discussion: Regarding the dysfunctions in parkinsonians, entire visual pathway is potentially compromised. However, visuospatial cognitive domain can be accessed through specific neuropsychological tests. Therefore, studies determined the characteristics of these findings in patients with PD, such as the predominant appearance in late-onset disease, correlation with rigid-akinetic subtype and leftlateralized symptoms. Furthermore, evidence demonstrates an association with visual hallucinations, sleep disturbances and dysautonomia. Visuospatial deficits may cause an additional negative impact on motor function. Conclusion: The strength of the association between most parkinsonians and visuospatial deficits, especially at the beginning of the disease, is evidenced, unrelated to global cognitive deficit. Some specific clinical features of this correlation are clearer, while others require further studies to establish. In view of the additional impact that ineffective visuospatial ability can bring to the daily lives of these patients, and also the recognition of the predictive character for dementia, the deepening and dissemination of this knowledge is justified. Thus, aiming a targeted investigation and therapeutic management and, consequently, improvements in the quality of life45 f

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