Clinical and epidemiological characteristics of patients with Amyotrophic Lateral Sclerosis (ALS) in central Brazil

Objective: This study aimed to evaluate the clinical-epidemiological characteristics of patients with Amyotrophic Lateral Sclerosis (ALS) in the State of Goiás, Brazil. Methods: We conducted a descriptive cross-sectional study to assess medical records of patients with ALS followed-up at the State Rehabilitation and Readaptation Medical Center Dr. Henrique Santillo, Goiânia, GO, Brazil, between 2005 and 2018. In addition, we registered and created a photographic panel with the main clinical findings of ALS cases. Results: From 224 investigated patients, 51.8% were male, and 67.4% manifested the classic form of the disease. Initial symptoms were more frequent in the lower limbs (37.9%), and complications resulted in 45.5% of tracheostomy, 60.3% of gastrostomy, and 49.1% of deaths. Most patients had a five-year survival from the onset of symptoms, and no significant association between the use of non-invasive ventilation and increased survival were found. The analysis of the clinical-epidemiological characteristics showed a more extended time between the first symptoms and the diagnosis of the disease was observed. Conclusion: In this study, the time between the first symptoms and diagnosis was longer than in the literature, resulting in late treatments. In addition, there was no satisfactory result regarding survival with the use of non-invasive ventilation. Therefore, clinical-epidemiological studies of the disease in Brazil, as well as public awareness and training of professionals in recognition of ALS clinical signs will assist in early and more efficient interventions.Objetivo: Este estudo teve como objetivo avaliar as características clínico-epidemiológicas de pacientes com Esclerose Lateral Amiotrófica (ELA) no Estado de Goiás, Brasil. Métodos: Foi realizado um estudo transversal descritivo para avaliação de prontuários de pacientes com ELA acompanhados no Centro Médico Estadual de Reabilitação e Readaptação Dr. Henrique Santillo, Goiânia, GO, Brasil, entre 2005 e 2018. Além disso, registramos e criamos um painel fotográfico com os principais achados clínicos dos casos de ELA. Resultados: Dos 224 pacientes investigados, 51,8% eram do sexo masculino e 67,4% manifestavam a forma clássica da doença. Os sintomas iniciais foram mais frequentes em membros inferiores (37,9%) e as complicações resultaram em 45,5% de traqueostomia, 60,3% de gastrostomia e 49,1% de óbitos. A maioria dos pacientes teve sobrevida de cinco anos desde o início dos sintomas, e nenhuma associação significativa entre o uso de ventilação não-invasiva e aumento da sobrevida foi encontrada. A análise das características clínico-epidemiológicas mostrou um tempo mais prolongado entre os primeiros sintomas e o diagnóstico da doença. Conclusão: Neste estudo, o tempo entre os primeiros sintomas e o diagnóstico foi maior quando comparado à literatura, resultando em tratamentos tardios. Além disso, não houve resultado satisfatório em termos de sobrevida com o uso da ventilação não-invasiva. Portanto, estudos clínico-epidemiológicos sobre a doença no Brasil, bem como a conscientização pública e o treinamento de profissionais para o reconhecimento dos sinais clínicos de ELA, auxiliarão em intervenções precoces e mais eficazes

No Association of Angiotensin-Converting Enzyme Insertion/Deletion (ACE I/D) Gene Polymorphism in the Susceptibility to Diabetic Retinopathy in Type 2 Diabetes Mellitus Patients: An Updated Meta-Analysis

Diabetic retinopathy (DR) is a complex and multifactorial pathology encompassing environmental, metabolic, and polygenic influences. Among the genes possibly involved in the development and progression of DR, the Angiotensin I-converting enzyme (ACE) gene stands out, which presents an insertion (I) or deletion (D) polymorphism of a 287 bp Alu repetitive sequence in intron 16. Thus, this study aimed to perform a systematic review with meta-analysis to elucidate the relationship between the ACE gene (I/D) polymorphism (rs1799752) and the development and progression of DR in type 2 diabetic patients. PubMed/MEDLINE, Embase, Web of Science, and Scopus databases were systematically searched to retrieve articles that investigated the association between ACE gene (I/D) polymorphism in DR patients. Sixteen articles were included in the systematic review. The results describe no significant association between the polymorphism and DR risk (OR = 1.12; CI = 0.96–1.31; and p = 0.1359) for genotypic analysis by the dominant model (II vs. ID+DD). Moreover, we also observed no significant association between the D allele on the allele frequency analysis (I vs. D) and the DR risk (OR = 1.10; CI = 0.98–1.23; and p = 0.1182). Forest plot analysis revealed that the discrepancy between previous studies most likely arose from variations in their sample sizes. In conclusion, I/D polymorphism appears to be not involved in the susceptibility to and progression of the DR in type 2 diabetic patients

No association of GSTP1 rs1695 polymorphism with amyotrophic lateral sclerosis: A case-control study in the Brazilian population.

Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. It has a multifactorial etiology, where environmental conditions playing a remarkable role through the increase of oxidative stress. Genetic polymorphisms in cell detoxification genes, such as Glutathione S-Transferase Pi 1 (GSTP1) can contribute to excessive oxidative stress, and therefore may be a risk factor to ALS. Thus, this study aimed to investigate the role of the GSTP1 rs1695 polymorphism in ALS susceptibility in different genetic inheritance models and evaluate the association of the genotypes with risk factors, clinical and demographic characteristics of ALS patients from the Brazilian central population. This case-control study was conducted with 101 patients with ALS and 101 healthy controls. GSTP1 rs1695 polymorphism genotyping was performed with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The statistical analysis was carried out using the SPSS statistical package and SNPStats software. Analysis of genetic inheritance models was performed by logistic regression, which was used to determine the Odds Ratio. The results of this first study in the Brazilian population demonstrated that there was no risk association between the development of ALS and the GSTP1 rs1695 polymorphism in any genetic inheritance model (codominant, dominant, recessive, overdominant, and logarithmic); and that the polymorphic variants were not associated with the clinical and demographic characteristics of ALS patients. No association of the GSTP1 rs1695 polymorphism and ALS development in the Brazilian central population was found. These findings may be justified by the multifactorial character of the disease

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