| 1. |
- Lopes, Fatima, et al.
(författare)
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Identification of novel genetic causes of Rett syndrome-like phenotypes
- 2016
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 53:3, s. 190-199
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Tidskriftsartikel (refereegranskat)abstract
- Background The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach. Methods and results We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering of the single nucleotide variants and indels with preference for de novo, homozygous/compound heterozygous, or maternally inherited X linked variants. Examination by MRI and muscle biopsies was also performed. Pathogenic genomic imbalances were found in two patients (10.5%): an 18q21.2 deletion encompassing four exons of the TCF4 gene and a mosaic UPD of chromosome 3. Variants in genes previously implicated in neurodevelopmental disorders (NDD) were identified in six patients (32%): de novo variants in EEF1A2, STXBP1 and ZNF238 were found in three patients, maternally inherited X linked variants in SLC35A2, ZFX and SHROOM4 were detected in two male patients and one homozygous variant in EIF2B2 was detected in one patient. Variants were also detected in five novel NDD candidate genes (26%): we identified de novo variants in the RHOBTB2, SMARCA1 and GABBR2 genes; a homozygous variant in EIF4G1; compound heterozygous variant in HTT. Conclusions Network analysis reveals that these genes interact by means of protein interactions with each other and with the known RTT genes. These findings expand the phenotypical spectrum of previously known NDD genes to encompass RTT-like clinical presentations and identify new candidate genes for RTT-like phenotypes.
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| 2. |
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| 3. |
- Proenca, Audrey Menegaz, et al.
(författare)
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Genomic, biochemical, and phylogenetic evaluation of bacteria isolated from deep-sea sediment harboring methane hydrates
- 2022
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Ingår i: Archives of Microbiology. - : Springer. - 0302-8933 .- 1432-072X. ; 204:4
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Tidskriftsartikel (refereegranskat)abstract
- Over half of the organic carbon on Earth's surface is trapped in marine sediment as methane hydrates. Ocean warming causes hydrate dissociation and methane leakage to the water column, rendering the characterization of microbes from hydrate depositions a pressing matter. Through genomic, phylogenetic, and biochemical assays, we characterize the first microorganisms isolated from the Rio Grande Cone (Brazil), reservoir responsible for massive methane releases to the water column. From sediment harboring rich benthic communities, we obtained 43 strains of Brevibacillus sp., Paenibacillus sp. and groups of Bacillus sp. Methane-enriched samples yielded strains of the Pseudomonas fluorescens complex, exhibiting fluorescent siderophore production and broad multi-carbon catabolism. Genomic characterization of a novel Pseudomonas sp. strain indicated 32 genes not identified in the closest related type-species, including proteins involved with mercury resistance. Our results provide phylogenetic and genomic insights on the first bacterial isolates retrieved from a poorly explored region of the South Atlantic Ocean.
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| 4. |
- Teixeira de Oliveira, Renata, et al.
(författare)
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Hydraulic traits of Jacaranda copaia (Aubl.) D. Don. (Bignoniaceae) in the Southwest Amazon
- 2023
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Ingår i: Revista Árvore. - : Sociedade de Investigações Florestais. - 0100-6762 .- 1806-9088. ; 47
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Tidskriftsartikel (refereegranskat)abstract
- Trees transport water from underground to the atmosphere through the evapotranspiration process. Climate change can significantly compromise this process due to changes in land use, such as deforestation. This study aimed to characterize the hydraulic and anatomical attributes of Jacaranda copaia (Aubl.) D. Don (Bignoniaceae), in the Southwestern Brazilian Amazon. For this purpose, the xylem vulnerability curve of this species was described. The frequency and diameter of the xylem vessels and the stomata density were also measured. Finally, a hydraulic attribute of Jacaranda copaia was compared to other species at global, tropical, and Amazonian levels. The findings show that, in the region studied, the species Jacaranda copaia has diffuse-porous woods and numerous vessels (average vessel ranging from 8 to 14 nº/mm2) with small (<50µm) to medium (between 100 and 200 µm) diameters. The average stomatal density ranged from 289 to 309 stomata/mm2. The xylem hydraulic resistance to embolism (Ψ50) ranged from -0.814 to -2.400 MPa, with relatively narrow hydraulic safety margins (HSM50 ranging from -0.312 to 1.122; HSM88 ranging from 0.204 to 1.709). The average values of Ψ50 detected were similar to a large percentage of arboreal species at global, tropical, and Amazonian levels. Possibly, the studied species presents a more “risky” hydraulic strategy, with relatively narrow hydraulic safety margins, due to its dynamic character of fast growth, typical of pioneer species.
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| 5. |
- Baloch, Ramen Munir, et al.
(författare)
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Indoor air pollution, physical and comfort parameters related to schoolchildren's health : Data from the European SINPHONIE study
- 2020
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Ingår i: Science of the Total Environment. - : ELSEVIER. - 0048-9697 .- 1879-1026. ; 739
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Tidskriftsartikel (refereegranskat)abstract
- Substantial knowledge is available on the association of the indoor school environment and its effect among schoolchildren. In the same context, the SINPHONIE (School indoor pollution and health: Observatory network in Europe) conducted a study to collect data and determine the distribution of several indoor air pollutants (IAPs), physical and thermal parameters and their association with eye, skin, upper-, lower respiratory and systemic disorder symptoms during the previous three months. Finally, data from 115 schools in 54 European cities from 23 countries were collected and included 5175 schoolchildren using a harmonized and standardized protocol. The association between exposures and the health outcomes were examined using logistic regression models on the environmental stressors assessed in classroom while adjusting for several confounding factors; a VOC (volatile organic compound) score defined as the sum of the number of pollutants to which the children were highly exposed (concentration > median of the distribution) in classroom was also introduced to evaluate the mul tiexposu re - outcome association. Schoolchildren while adjusting for several confounding factors. Schoolchildren exposed to above or equal median concentration of PM2.5, benzene, limonene, ozone and radon were at significantly higher odds of suffering from upper, lower airways, eye and systemic disorders. Increased odds were also observed for any symptom (sick school syndrome) among schoolchildren exposed to concentrations of limonene and ozone above median values. Furthermore, the risks for upper and lower airways and systemic disorders significantly increased with the VOCs score. Results also showed that increased ventilation rate was significantly associated with decreased odds of suffering from eye and skin disorders whereas similar association was observed between temperature and upper airways symptoms. The present study provides evidence that exposure to IAPs in schools is associated with various health problems in children. Further investigations are needed to confirm our findings. (C) 2020 Elsevier B.V. All rights reserved.
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| 6. |
- Boeira, Rafael, et al.
(författare)
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Propagation of Voltage Dips in a Mixed DFIG-PMSG Wind Power Plant
- 2021
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Ingår i: 2021 IEEE PES Innovative Smart Grid Technologies Conference - Latin America (ISGT Latin America). - : IEEE.
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Konferensbidrag (refereegranskat)abstract
- This work assesses the propagation of voltage dips caused by electrical faults in a mixed DFIG-PMSG wind power plant by considering distinct collection transformer connections. Several transmission system operators have required the operation of the wind power plants even during voltage dips. The electronic converters might be affected during the voltage dips. Most of the works which assess this impact applied voltage dips directly to wind turbine terminals. However, the voltage dips which reach the wind turbine terminals are distinct in type of the ones from the transmission level. The reason for this distinction is related to the winding connections of the wind turbines and collection grid transformers. The winding connection of the collection grid varies country by country, i.e some countries apply Yg- Yg and other Yg - A. Faced with this, the consideration of the winding connections might possibly lead to distinct operation of the wind turbines during the voltage dip. Besides, the operation during dips also differs depending on the converter technology. This way, this works aims to analyze how the low-voltage ride-through requirements and the behavior of the wind turbines changes in terms of the collection grid transformer for two technologies of wind turbines: PMSG and DFIG.
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| 7. |
- Buzatti, Renata Santiago de Oliveira, et al.
(författare)
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Disentangling the Environmental Factors That Shape Genetic and Phenotypic Leaf Trait Variation in the Tree Qualea grandiflora Across the Brazilian Savanna
- 2019
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Ingår i: Frontiers in Plant Science. - : Frontiers Media SA. - 1664-462X. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Identifying the environmental factors that shape intraspecific genetic and phenotypic diversity of species can provide insights into the processes that generate and maintain divergence in highly diverse biomes such as the savannas of the Neotropics. Here, we sampled Qualea grandiflora, the most widely distributed tree species in the Cerrado, a large Neotropical savanna. We analyzed genetic variation with microsatellite markers in 23 populations (418 individuals) and phenotypic variation of 10 metamer traits (internode, petiole and corresponding leaf lamina) in 36 populations (744 individuals). To evaluate the role of geography, soil, climate, and wind speed in shaping the divergence of genetic and phenotypic traits among populations, we used Generalized Dissimilarity Modelling. We also used multiple regressions to further investigate the contributions of those environmental factors on leaf trait diversity. We found high genetic diversity, which was geographically structured. Geographic distance was the main factor shaping genetic divergence in Qualea grandiflora, reflecting isolation by distance. Genetic structure was more related to past climatic changes than to the current climate. We also found high metamer trait variation, which seemed largely influenced by precipitation, soil bulk density and wind speed during the period of metamer development. The high degree of metamer trait variation seems to be due to both, phenotypic plasticity and local adaptation to different environmental conditions, and may explain the success of the species in occupying all the Cerrado biome.
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| 8. |
- Castanheira, Diogo Dias, et al.
(författare)
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Lpx1p links glucose-induced calcium signaling and plasma membrane H+-ATPase activation in Saccharomyces cerevisiae cells
- 2018
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Ingår i: FEMS Yeast Research. - : Oxford University Press (OUP). - 1567-1356 .- 1567-1364. ; 18:1
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Tidskriftsartikel (refereegranskat)abstract
- In yeast, as in other eukaryotes, calcium plays an essential role in signaling transduction to regulate different processes. Many pieces of evidence suggest that glucose-induced activation of plasma membrane H+-ATPase, essential for yeast physiology, is related to calcium signaling. Until now, no protein that could be regulated by calcium in this context has been identified. Lpx1p, a serine-protease that is also involved in the glucose-induced activation of the plasma membrane H+-ATPase, could be a candidate to respond to intracellular calcium signaling involved in this process. In this work, by using different approaches, we obtained many pieces of evidence suggesting that the requirement of calcium signaling for activation of the plasma membrane H+-ATPase is due to its requirement for activation of Lpx1p. According to the current model, activation of Lpx1p would cause hydrolysis of an acetylated tubulin that maintains the plasma membrane H+-ATPase in an inactive state. Therefore, after its activation, Lpx1p would hydrolyze the acetylated tubulin making the plasma membrane H+-ATPase accessible for phosphorylation by at least one protein kinase.
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| 9. |
- Dib, Luciano Lauria, et al.
(författare)
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Auricular rehabilitation by means of bone grafting from the iliac crest in combination with porous extraoral implants: A case report
- 2007
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Ingår i: CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH. - : Wiley. - 1523-0899 .- 1708-8208. ; 9:4, s. 228-232
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Tidskriftsartikel (refereegranskat)abstract
- Background: Maxillofacial defects caused by cancer treatment are a huge problem affecting the quality of life of patients. Some of these deformities are minimized using facial epitheses, which need some additional retention devices like glasses or skin adhesives. The use of extraoral fixtures as bone anchorage was introduced many years ago and since then many patients were rehabilitated with better results. Purpose: Because of poor bone conditions, for example, irradiated bone, the success rate of extraoral implants is less than in the oral cavity, causing difficulties to rehabilitation. One possible cause of fixture failure could be the poor primary stability achieved in some cases, hence, with an increased bone contact implant stability and survival could be improved. The present report discusses possibilities to use extraoral fixtures with a modified surface structure. Materials and Methods: A new porous surfaced Brazilian extraoral implant (MasterExtra®, Conexão, Sistema de Próteses, São Paulo, Brazil) was used. A bone transplant from the iliac crest was taken to make it possible to insert at least three extraoral implants for an auricle epithesis. Clinical evaluation and resonance frequency analysis (RFA) measurements were performed during the course of the treatment. Results: Eight months after grafting, four fixtures were inserted. Three fixtures were used for connection of an auricular epithesis. RFA measurements did show high initial values and the values remained stable during the course of the treatment and at later checkups. Conclusion: Porous fixture is a good option in areas where the bone is compromised. RFA is a good tool also in the clinical setting to evaluate immediate and long-term stability of extraoral fixtures.
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| 10. |
- Erjefält, Jonas S., et al.
(författare)
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Diffuse alveolar damage patterns reflect the immunological and molecular heterogeneity in fatal COVID-19
- 2022
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Ingår i: EBioMedicine. - : Elsevier BV. - 2352-3964. ; 83
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Tidskriftsartikel (refereegranskat)abstract
- Background: Severe COVID-19 lung disease exhibits a high degree of spatial and temporal heterogeneity, with different histological features coexisting within a single individual. It is important to capture the disease complexity to support patient management and treatment strategies. We provide spatially decoded analyses on the immunopathology of diffuse alveolar damage (DAD) patterns and factors that modulate immune and structural changes in fatal COVID-19. Methods: We spatially quantified the immune and structural cells in exudative, intermediate, and advanced DAD through multiplex immunohistochemistry in autopsy lung tissue of 18 COVID-19 patients. Cytokine profiling, viral, bacteria, and fungi detection, and transcriptome analyses were performed. Findings: Spatial DAD progression was associated with expansion of immune cells, macrophages, CD8+ T cells, fibroblasts, and (lymph)angiogenesis. Viral load correlated positively with exudative DAD and negatively with disease/hospital length. In all cases, enteric bacteria were isolated, and Candida parapsilosis in eight cases. Cytokines correlated mainly with macrophages and CD8+T cells. Pro-coagulation and acute repair were enriched pathways in exudative DAD whereas intermediate/advanced DAD had a molecular profile of elevated humoral and innate immune responses and extracellular matrix production. Interpretation: Unraveling the spatial and molecular immunopathology of COVID-19 cases exposes the responses to SARS-CoV-2-induced exudative DAD and subsequent immune-modulatory and remodeling changes in proliferative/advanced DAD that occur side-by-side together with secondary infections in the lungs. These complex features have important implications for disease management and the development of novel treatments. Funding: CNPq, Bill and Melinda Gates Foundation, HC-Convida, FAPESP, Regeneron Pharmaceuticals, and the Swedish Heart & Lung Foundation.
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