The HLA-DRB1 Alleles Effects on Multiple Sclerosis:a Systematic Review

Background: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system that affects sensitive and motor functions. Many population studies were made with the intent of knowing better the most affected groups and the disease manifestations. These review analyses some of those studies, evaluating risk factors, especially genetic relations of Human Leukocyte Antigen DRB1 (HLADRB1) gens, for developing clinical disease.Method: We have analyzed 57 articles, published between 2009 and 2014, with the key words “multiple sclerosisâ€, “genetic association studies†and “HLA-DRB1 chainsâ€, through the Scopus database. Only 18 articles were eligible for our study; they were read entirely and included in the fial analysis.Results: Most studies imply genetic and environmental factors for the incidence of MS, its age of starting and prognosis. Previous studies have shown that many gens are related in MS pathogenesis and that interactions between them are important in determining clinicalmanifestations.Limitations: Different results were observed when different populations were targeted in the studies.Conclusion: There is an important relation between HLA-DRB1 and MS in diverse population groups. Complementary studies are needed to know better the importance of environmental factors and its interaction with gens in the development of MS

MANEJO EFICIENTE DE DESAFIOS EM CIRURGIAS DE EXTRAÇÃO DE TERCEIROS MOLARES

Third molar extraction is a common surgical intervention in dentistry, but it can present challenges due to the complex anatomy that the region can present. Complications during or after the procedure can range from temporary discomfort to more serious problems. OBJECTIVE: This study aims to explore strategies for efficiently managing these challenges, highlighting the importance of prior assessment and surgical planning and technology applications. METHODOLOGY: A comprehensive literature review was carried out, using PubMed and Google Scholar, with terms such as "Third molar", "impacted teeth" and "surgical complications". The careful selection considered the contribution to research and reliability, with Lakatos and Marconi (2017) being key references. The analysis only included articles in Portuguese to ensure accurate interpretation. DISCUSSION: Risk factors, such as anatomical position, patient age and systemic conditions, were identified as crucial. Post-surgical complications, related to inflammation and infection, require prior analysis to determine the need for antibiotic therapy. The review addressed the importance of anamnesis, imaging exams and asepsis protocols New technologies, such as CBCT, 3D printing, diode lasers and ultrasound. CONCLUSION: The study concludes that third molar extraction requires a careful and preventive approach. The identification of risk factors, the application of preventive strategies and the use of innovative technologies are fundamental to the success of the surgery.A extração do terceiro molar, é uma intervenção cirúrgica comum na odontologia, porém pode apresentar desafios devido à anatomia complexa que a região pode vim apresentar. Complicações durante ou após o procedimento podem variar de desconforto temporário a problemas mais sérios. OBJETIVO: Este estudo visa explorar estratégias de manejo eficiente desses desafios, destacando a importância da avaliação prévia e do planejamento cirúrgico e aplicações de tecnologias. METODOLOGIA:  Realizou-se uma revisão abrangente de literatura, utilizando PubMed e Google Acadêmico, com termos como "Terceiro molar", "dentes impactados" e "complicações cirúrgicas". A seleção criteriosa considerou a contribuição à pesquisa e a confiabilidade, com Lakatos e Marconi (2017) sendo referências-chave. A análise incluiu apenas artigos em língua portuguesa para garantir interpretação precisa. DISCUSSÃO: Os fatores de risco, como posição anatômica, idade do paciente e condições sistêmicas, foram identificados como cruciais. Complicações pós-cirúrgicas, relacionadas à inflamação e infecção, demandam análise prévia para determinar a necessidade de antibioticoterapia. A revisão abordou a importância da anamnese, exames de imagem e protocolos de assepsia Novas tecnologias, como CBCT, impressão 3D, lasers de diodo e ultrassom. CONCLUSÃO: O estudo conclui que a extração do terceiro molar demanda uma abordagem cuidadosa e preventiva. A identificação de fatores de risco, a aplicação de estratégias preventivas e o uso de tecnologias inovadoras são fundamentais para o sucesso da cirurgia

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Consistent patterns of common species across tropical tree communities

Trees structure the Earth’s most biodiverse ecosystem, tropical forests. The vast number of tree species presents a formidable challenge to understanding these forests, including their response to environmental change, as very little is known about most tropical tree species. A focus on the common species may circumvent this challenge. Here we investigate abundance patterns of common tree species using inventory data on 1,003,805 trees with trunk diameters of at least 10 cm across 1,568 locations1,2,3,4,5,6 in closed-canopy, structurally intact old-growth tropical forests in Africa, Amazonia and Southeast Asia. We estimate that 2.2%, 2.2% and 2.3% of species comprise 50% of the tropical trees in these regions, respectively. Extrapolating across all closed-canopy tropical forests, we estimate that just 1,053 species comprise half of Earth’s 800 billion tropical trees with trunk diameters of at least 10 cm. Despite differing biogeographic, climatic and anthropogenic histories7, we find notably consistent patterns of common species and species abundance distributions across the continents. This suggests that fundamental mechanisms of tree community assembly may apply to all tropical forests. Resampling analyses show that the most common species are likely to belong to a manageable list of known species, enabling targeted efforts to understand their ecology. Although they do not detract from the importance of rare species, our results open new opportunities to understand the world’s most diverse forests, including modelling their response to environmental change, by focusing on the common species that constitute the majority of their trees.Publisher PDFPeer reviewe

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Two new cases of brazilian boys presenting a Rett-like phenotype due to FOXG1: case report and literature review

Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. Most typical forms of RTT patients are hemizygous for pathogenic variants in  MECP2.  FOXG1 syndrome is a rare and severe neurodevelopmental disorder with a broad spectrum of clinical features which could be described as RTT-like.  In this paper we describe two non related patients who presented with developmental delay, microcephaly and hyperkinetic movements. One of them had epilepsy. Diagnosis was made by exome analysis and highlights an uncommon differential diagnosis in developmental delay in children

Compound heterozygous mutation of the IARS2 gene: a rare cause of Leigh Syndrome

Described in 2005 by Bonnefond, L. et al, IARS2 (OMIM 612801) is a mitochondrial isoleucyl-tRNA synthetase encoded in the nucleus. Phenotypically, the mutation in the IARS2 is expressed in a broad clinical spectrum, which includes Leigh Syndrome (LS) as well as extra-neurological effects. We described a 7-year-old boy who presented global developmental delay, hypotonia and epilepsy, evolving with epileptic encephalopathy. An MRI showed diffuse brain atrophy and areas of capsular changes bilaterally, while the exome showed compound heterozygous mutation in the IARS2 gene, a probable pathogenic variant inherited from the mother - p.[(Arg201His)], and a pathogenic variant inherited from the father - p.[(Trp520*)]. In the literature, we found 11 cases of patients who presented phenotypically as LS with mutation of the IARS2 gene. This report shows a patient with pathogenic variants never described in IARS2 compound heterozygosity, reinforcing the hypothesis of association of the IARS2 gene with this syndrome

Higher Prevalence of Nonsense Pathogenic <i>DMD</i> Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments

Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs