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1.
Plants (Basel) ; 13(19)2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39409577

RESUMO

The floating freshwater fern Azolla is the only plant that retains an endocyanobiont, Nostoc azollae (aka Anabaena azollae), during its sexual and asexual reproduction. The increased interest in Azolla as a potential source of food and its unique evolutionary history have raised questions about its cyanotoxin content and genome. Cyanotoxins are potent toxins synthesized by cyanobacteria which have an anti-herbivore effect but have also been linked to neurodegenerative disorders including Alzheimer's and Parkinson's diseases, liver and kidney failure, muscle paralysis, and other severe health issues. In this study, we investigated 48 accessions of Azolla-Nostoc symbiosis for the presence of genes coding microcystin, nodularin, cylindrospermopsin and saxitoxin, and BLAST analysis for anatoxin-a. We also investigated the presence of the neurotoxin ß-N-methylamino-L-alanine (BMAA) in Azolla and N. azollae through LC-MS/MS. The PCR amplification of saxitoxin, cylindrospermospin, microcystin, and nodularin genes showed that Azolla and its cyanobiont N. azollae do not have the genes to synthesize these cyanotoxins. Additionally, the matching of the anatoxin-a gene to the sequenced N. azollae genome does not indicate the presence of the anatoxin-a gene. The LC-MS/MS analysis showed that BMAA and its isomers AEG and DAB are absent from Azolla and Nostoc azollae. Azolla therefore has the potential to safely feed millions of people due to its rapid growth while free-floating on shallow fresh water without the need for nitrogen fertilizers.

2.
Toxins (Basel) ; 16(9)2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39330836

RESUMO

Cyanobacteria are cosmopolitan organisms; nonetheless, climate change and eutrophication are increasing the occurrence of cyanobacteria blooms (cyanoblooms), thereby raising the risk of cyanotoxins in water sources used for drinking, agriculture, and livestock. This study aimed to determine the presence of cyanobacteria, including toxigenic cyanobacteria and the occurrence of cyanotoxins in the El Pañe reservoir located in the high-Andean region, Arequipa, Peru, to support water quality management. The study included morphological observation of cyanobacteria, molecular determination of cyanobacteria (16S rRNA analysis), and analysis of cyanotoxins encoding genes (mcyA for microcystins, cyrJ for cylindrospermopsins, sxtl for saxitoxins, and AnaC for anatoxins). In parallel, chemical analysis using Liquid Chromatography coupled with Mass Spectrometry (LC-MS/MS) was performed to detect the presence of cyanotoxins (microcystins, cylindrospermopsin, saxitoxin, and anatoxin, among others) and quantification of Microcystin-LR. Morphological data show the presence of Dolichospermum sp., which was confirmed by molecular analysis. Microcystis sp. was also detected through 16S rRNA analysis and the presence of mcyA gene related to microcystin production was found in both cyanobacteria. Furthermore, microcystin-LR and demethylated microcystin-LR were identified by chemical analysis. The highest concentrations of microcystin-LR were 40.60 and 25.18 µg/L, in May and November 2022, respectively. Microcystins were detected in cyanobacteria biomass. In contrast, toxins in water (dissolved) were not detected. Microcystin concentrations exceeded many times the values established in Peruvian regulation and the World Health Organization (WHO) in water intended for human consumption (1 µg/L). This first comprehensive report integrates morphological, molecular, and chemical data and confirms the presence of two toxigenic cyanobacteria and the presence of microcystins in El Pañe reservoir. This work points out the need to implement continuous monitoring of cyanobacteria and cyanotoxins in the reservoir and effective water management measures to protect the human population from exposure to these contaminants.


Assuntos
Toxinas Bacterianas , Cianobactérias , Monitoramento Ambiental , Microcistinas , Peru , Cianobactérias/genética , Cianobactérias/metabolismo , Toxinas Bacterianas/análise , Toxinas Bacterianas/genética , Microcistinas/análise , Qualidade da Água , Toxinas de Cianobactérias , Microbiologia da Água , Toxinas Marinhas/análise
3.
Environ Res ; 262(Pt 2): 119942, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39243846

RESUMO

Cyanobacteria represent a promising resource for sustainable agriculture, as they have demonstrated the ability to restore soil fertility even after death and decay. However, several cyanobacteria can also release secondary metabolites, such as cyanotoxins, which may compromise the quality of agricultural products and pose a potential risk to human health. Depending on the concentration of exposure, few studies reported deleterious effects on plant species when irrigated with cylindrospermopsin (CYN) contaminated water, impairing plant growth and leading to food product contamination, while other studies show promoting effects on plant yield. To evaluate the potential of cyanobacterial biomass (cyanotoxin-containing or not) as a sustainable resource for soil amendment, biostimulants or fertilizers for lettuce cultivation, a study was carried out that consisted of the culture of lettuce plants under controlled conditions, in soil: (1) with no extra nutrient addition (control) and supplemented with 0.6 g of freeze-dried Raphidiopsis raciborskii biomass of (2) a non-CYN-producing strain, (3) a CYN-producing strain, and (4) the same CYN-producing strain pasteurized. Results showed no significant differences in photosystem II efficiency with the amendment addition. On the contrary, shoot fresh weight significantly increased in lettuce plants grown with the cyanobacterial biomass addition, especially in condition (3). In addition, there were significant differences in mineral concentrations in lettuce leaves after the cyanobacterial biomass addition, such as K, Na, Ca, P, Mg, Mn, Zn, Cu, Mo, and Co. CYN accumulation was detected under conditions (3) and (4), with concentrations observed in descending order from roots > soil > shoot. Nevertheless, the CYN concentration in edible tissues did not exceed the WHO-proposed tolerable daily intake of 0.03 µg/kg/day. These findings suggest that incorporating cyanobacterial biomass as a soil amendment, biostimulant or fertilizer for lettuce cultivation, even with trace amounts of CYN (1-40 µg/g), may enhance plant yield without leading to cyanotoxin accumulation in edible tissues above the WHO-recommended tolerable daily intake.

4.
Cureus ; 16(7): e64602, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39144887

RESUMO

Immune thrombocytopenia (ITP) is characterized by isolated thrombocytopenia manifesting with mucocutaneous bleeding symptoms, generally mild to moderate. The presence of severe symptoms or complications is rare but can be life-threatening and should be promptly diagnosed and treated. We present the case of a 14-year-old female presenting with abdominal tenderness and signs of peritoneal irritation and found to exhibit petechial rash in the buccal mucosa, scant petechiae, and superficial ecchymosis in both arms and legs on physical examination. Laboratory evaluation revealed severe thrombocytopenia and normocytic anemia. Abdominal ultrasound showed a significant peritoneal hematic effusion. The diagnosis of ITP with spontaneous peritoneal hemorrhage was made, and she was treated with intravenous immunoglobulin (IVIG) and antibiotic therapy, as well as one packed red blood cell transfusion because of worsened anemia on re-evaluation. A gradual rise in platelet count and hemoglobin was observed, as well as a gradual resolution of the peritoneal hemorrhage, with no further therapy.

5.
Int J Occup Saf Ergon ; : 1-8, 2024 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-39072395

RESUMO

Objectives. This study aimed to investigate 12-month and 7-day prevalence of musculoskeletal symptoms among workers of the pulp and paper industry, and assess the contribution of age, gender, body mass index (BMI) and physical activity (PA). Methods. The sample comprised 904 workers. Musculoskeletal symptoms were assessed using the Nordic musculoskeletal questionnaire. χ2 tests assessed the association between musculoskeletal symptoms and age/gender/BMI/PA, and multivariate logistic regression models predicted the 12-month occurrence of symptoms in the five most prevalent regions. Results. The five most affected body regions were the lower back, shoulders, neck, knees and wrists/hands. Older workers presented more symptoms in all body regions, except dorsal; female gender was associated with neck symptoms (p = 0.001); overweight was associated with a higher prevalence of lower back (p = 0.01), knee (p = 0.017) and ankle/foot (p = 0.037) symptoms; and a moderate PA level was associated with thigh/hip symptoms (p = 0.006). Age was a significant predictor in all five most affected regions; gender was a significant predictor for shoulders, neck and wrists/hands; and BMI was a significant predictor for lower back symptoms. Conclusion. The 12-month and 7-day prevalence of musculoskeletal symptoms among workers of the pulp and paper industry is higher in the lower back, shoulders, neck, knees and wrists/hands.

6.
Brain Spine ; 4: 102855, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39071452

RESUMO

Introduction: Assessing the integrity of the posterior ligament complex (PLC), as a key element in the characterization of an unstable Thoracolumbar fracture (TLF), is challenging, but crucial in the choice of treatment. Research question: How to create a reproducible score using combined parameters of Computed Tomography (CT) to predict nonobvious PLC injury. How CT parameters relate with PLC status. Material and methods: Retrospective analysis of neurologically intact patients with an acute traumatic TLF, who underwent CT and Magnetic Resonance Imaging (MRI) within 72 h, in the Emergency Department of a single institution between January 2016 and 2022. Four investigators rated independently 11 parameters on CT and PLC integrity on MRI. The interrater reliability of the CT parameters was evaluated, and two risk scores were created to predict PLC injury on CT using the coefficients of the multivariate logistic regression. Results: 154 patients were included, of which 62 with PLC injury. All CT measurements had excellent or good interrater reliability. Patients with Horizontal Fracture of the lamina or pedicle (HLPF), Spinous process fracture (SPF) and Interspinous Distance Widening (IDW) were positively associated with PLC injury (p < 0.001, p < 0.001 and p = 0.045, respectively). Risk Score 2 (RS2), which included only statistically significant variables, had a total of 75.9% of correct classifications (p < 0.001), with a sensitivity of 71.0% and specificity of 78.3% to estimate PLC injury detected in the MRI. Discussion and conclusion: Standardized procedures pre-established in the CT measurement protocol were effective. Identically to early findings, those three CT measurements showed a positive relation to PLC injury, thus enhancing the conclusions of previous studies. Comparing to the reliability of the CT findings above mentioned, the score was less precise.

7.
Int J Occup Saf Ergon ; 30(3): 867-871, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38874198

RESUMO

Objectives. Associations between shift-work, musculoskeletal symptoms and absenteeism are poorly investigated in the manufacturing industry. This study aimed to investigate associations between working schedule, musculoskeletal symptoms and days of absenteeism among pulp and paper industry workers. Methods. Musculoskeletal symptoms of 904 workers were assessed through the Nordic Musculoskeletal Questionnaire. χ2 tests assessed associations between being a day-worker or shift-worker, the prevalence of musculoskeletal symptoms and days of absenteeism. Results. A significant association was found between working schedule and symptoms in the lower back in the last 12 months, with shift-workers presenting higher prevalence than day-workers (p = 0.022). Significant associations were also found between days of absenteeism and symptoms in the shoulders (p = 0.002), which mostly led to absenteeism of 100-365 days; elbows (p < 0.001), wrists/hands (p = 0.045) and ankles/feet (p = 0.042), which produced absenteeism mostly of 25-99 days; and dorsal region (p = 0.001), which mainly led to absenteeism of 10-24 days. No associations were found between working schedule and days of absenteeism (p = 0.265). Conclusion. Shift-work is associated with increased prevalence of lower back symptoms, but seems not to influence days of absenteeism. Shoulders seem to be the region leading to higher days of absenteeism, followed by elbows, wrists/hands, ankles/feet and the dorsal region.


Assuntos
Absenteísmo , Indústria Manufatureira , Doenças Musculoesqueléticas , Doenças Profissionais , Humanos , Masculino , Adulto , Feminino , Doenças Musculoesqueléticas/epidemiologia , Doenças Profissionais/epidemiologia , Pessoa de Meia-Idade , Inquéritos e Questionários , Prevalência , Jornada de Trabalho em Turnos/estatística & dados numéricos , Tolerância ao Trabalho Programado , Estudos Transversais
8.
Harmful Algae ; 135: 102631, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38830709

RESUMO

Cyanobacterial harmful algal blooms (CyanoHABs) threaten public health and freshwater ecosystems worldwide. In this study, our main goal was to explore the dynamics of cyanobacterial blooms and how microcystins (MCs) move from the Lalla Takerkoust reservoir to the nearby farms. We used Landsat imagery, molecular analysis, collecting and analyzing physicochemical data, and assessing toxins using HPLC. Our investigation identified two cyanobacterial species responsible for the blooms: Microcystis sp. and Synechococcus sp. Our Microcystis strain produced three MC variants (MC-RR, MC-YR, and MC-LR), with MC-RR exhibiting the highest concentrations in dissolved and intracellular toxins. In contrast, our Synechococcus strain did not produce any detectable toxins. To validate our Normalized Difference Vegetation Index (NDVI) results, we utilized limnological data, including algal cell counts, and quantified MCs in freeze-dried Microcystis bloom samples collected from the reservoir. Our study revealed patterns and trends in cyanobacterial proliferation in the reservoir over 30 years and presented a historical map of the area of cyanobacterial infestation using the NDVI method. The study found that MC-LR accumulates near the water surface due to the buoyancy of Microcystis. The maximum concentration of MC-LR in the reservoir water was 160 µg L-1. In contrast, 4 km downstream of the reservoir, the concentration decreased by a factor of 5.39 to 29.63 µgL-1, indicating a decrease in MC-LR concentration with increasing distance from the bloom source. Similarly, the MC-YR concentration decreased by a factor of 2.98 for the same distance. Interestingly, the MC distribution varied with depth, with MC-LR dominating at the water surface and MC-YR at the reservoir outlet at a water depth of 10 m. Our findings highlight the impact of nutrient concentrations, environmental factors, and transfer processes on bloom dynamics and MC distribution. We emphasize the need for effective management strategies to minimize toxin transfer and ensure public health and safety.


Assuntos
Monitoramento Ambiental , Proliferação Nociva de Algas , Microcistinas , Microcystis , Imagens de Satélites , Microcistinas/metabolismo , Microcistinas/análise , Microcystis/fisiologia , Microcystis/crescimento & desenvolvimento , Monitoramento Ambiental/métodos , Cianobactérias/fisiologia , Cianobactérias/crescimento & desenvolvimento , Indonésia , Synechococcus/fisiologia , Lagos/microbiologia
9.
J Pathol ; 263(3): 347-359, 2024 07.
Artigo em Inglês | MEDLINE | ID: mdl-38734878

RESUMO

Vascular permeability is temporarily heightened during inflammation, but excessive inflammation-associated microvascular leakage can be detrimental, as evidenced in the inflamed lung. Formylated peptides regulate vascular leakage indirectly via formylated peptide receptor-1 (FPR1)-mediated recruitment and activation of neutrophils. Here we identify how the GTPase-activating protein ARAP3 protects against formylated peptide-induced microvascular permeability via endothelial cells and neutrophils. In vitro, Arap3-/- endothelial monolayers were characterised by enhanced formylated peptide-induced permeability due to upregulated endothelial FPR1 and enhanced vascular endothelial cadherin internalisation. In vivo, enhanced inflammation-associated microvascular leakage was observed in Arap3-/- mice. Leakage of plasma protein into the lungs of Arap3-/- mice increased within hours of formylated peptide administration. Adoptive transfer experiments indicated this was dependent upon ARAP3 deficiency in both immune and non-immune cells. Bronchoalveolar lavages of formylated peptide-challenged Arap3-/- mice contained neutrophil extracellular traps (NETs). Pharmacological inhibition of NET formation abrogated excessive microvascular leakage, indicating a critical function of NETs in this context. The observation that Arap3-/- mice developed more severe influenza suggests these findings are pertinent to pathological situations characterised by abundant formylated peptides. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.


Assuntos
Permeabilidade Capilar , Células Endoteliais , Camundongos Knockout , Neutrófilos , Animais , Neutrófilos/metabolismo , Permeabilidade Capilar/efeitos dos fármacos , Humanos , Células Endoteliais/metabolismo , Células Endoteliais/efeitos dos fármacos , Células Endoteliais/patologia , Camundongos , Proteínas Ativadoras de GTPase/metabolismo , Proteínas Ativadoras de GTPase/genética , Camundongos Endogâmicos C57BL , Armadilhas Extracelulares/metabolismo , Pulmão/metabolismo , Pulmão/patologia , Pulmão/irrigação sanguínea
10.
J Mot Behav ; 56(6): 772-804, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38810655

RESUMO

This study aimed to systematically review and summarise the evidence about the effect of muscle fatigue on the knee proprioception of trained and non-trained individuals. A search in PubMed, Scopus, Web of Science and EBSCO databases and Google Scholar was conducted using the expression: "fatigue" AND ("proprioception" OR "position sense" OR "repositioning" OR "kinesthesia" OR "detection of passive motion" OR "force sense" OR "sense of resistance") AND "knee". Forty-two studies were included. Regarding joint-position sense, higher repositioning errors were reported after local and general protocols. Kinesthesia seems to be more affected when fatigue is induced locally, and force sense when assessed at higher target forces and after eccentric protocols. Muscle fatigue, both induced locally or generally, has a negative impact on the knee proprioception.


Assuntos
Fadiga Muscular , Propriocepção , Humanos , Joelho/fisiologia , Articulação do Joelho/fisiologia , Fadiga Muscular/fisiologia , Propriocepção/fisiologia
11.
J Hazard Mater ; 470: 134281, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38626680

RESUMO

Eutrophication has led to the widespread occurrence of cyanobacterial blooms. Toxic cyanobacterial blooms with high concentrations of microcystins (MCs) have been identified in the Lalla Takerkoust reservoir in Morocco. The objective of this study was to evaluate the efficiency of the Multi-Soil-Layering (MSL) ecotechnology in removing natural cyanobacterial blooms from the lake. Two MSL pilots were used in rectangular glass tanks (60 × 10 × 70 cm). They consisted of permeable layers (PLs) made of pozzolan and a soil mixture layer (SML) containing local soil, ferrous metal, charcoal and sawdust. The main difference between the two systems was the type of local soil used: sandy soil for MSL1 and clayey soil for MSL2. Both MSL pilots effectively reduced cyanobacterial cell concentrations in the treated water to very low levels (0.09 and 0.001 cells/mL). MSL1 showed a gradual improvement in MC removal from 52 % to 99 %, while MSL2 started higher at 90 % but dropped to 54% before reaching 86%. Both MSL systems significantly reduced organic matter levels (97.2 % for MSL1 and 95.8 % for MSL2). Both MSLs were shown to be effective in removing cyanobacteria, MCs, and organic matter with comparable performance.


Assuntos
Cianobactérias , Eutrofização , Lagos , Microcistinas , Solo , Lagos/microbiologia , Cianobactérias/crescimento & desenvolvimento , Microcistinas/análise , Solo/química , Purificação da Água/métodos , Recuperação e Remediação Ambiental/métodos , Marrocos
12.
Food Chem ; 442: 138480, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38241993

RESUMO

A new compound with a molecular ion mass of m/z 467 in the negative ion mode was found to occur in a white wine aged 30 months in bottle. In this latter, fragment ions compatible with the loss of a carboxylic acid (-44 a.m.u.), a caffeic acid unit (-178 a.m.u.), and a Retro-Diels Alder (-152 a.m.u.) were observed. The present work reports the synthesis of a (+)-catechin-caffeic acid adduct resulting from the condensation reaction between caffeic acid and (+)-catechin. The structural characterization by NMR showed that this adduct is formed by the linkage between carbon 8 at ring A from (+)-catechin and carbon 9 from caffeic acid. In addition, the similarity in the HPLC retention time and UV-Visible spectra of the synthesized compound with the one detected in white wine and the bottling experiments, confirms the presence of this novel (+)-catechin-derived compound in those matrices.


Assuntos
Catequina , Vinho , Catequina/química , Vinho/análise , Ácidos Cafeicos/análise , Carbono
13.
Toxicon ; 236: 107345, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37963511

RESUMO

Microcystins (MCs) are cyanobacterial toxins that can negatively impact human and animal health. This study investigated the bioaccumulation, transfer, depuration, and health risks of MCs in strawberry plants (Fragaria vulgaris) and Meriones shawi animals. The plants were irrigated with 1, 5, 10, and 20 µg/L MCs for 60 days (bioaccumulation phase) and then with clean water for 30 days (depuration phase). The harvested plants (roots and leaves) were then prepared in an aliquot form and used as feed for Meriones shawi. Liquid chromatography-mass spectrometry (LC/MS/MS) was used to measure MC concentrations in plant and animal tissues. The bioaccumulation of MCs was found to be highest in the roots, followed by leaves, fruits, liver, stomach, and fecal matter. The bioaccumulation factor (BAF) was highest in perlite (8.48), followed by roots (5.01), leaves (1.55), stomach (0.87), and fecal matter (1.18), indicating that the parts with high bioaccumulation factor had high translocation of MCs. The transfer of MCs to animal organs was low, and the daily toxin intake of adult consumers of strawberry fruit irrigated with 1, 5, 10, and 20 µg/L MC did not exceed the WHO-recommended limit of 0.04 µg MC-LR/Kg of bw/day. However, fruits from plants irrigated with 10 and 20 µg/L may pose a moderate health risk to children (25 Kg bw), and Meriones' consumption of leaves may pose a significant health risk. After the depuration phase, MC concentration in perlite, roots, leaves, and fruits decreased, indicating that depuration reduced the danger of MC transmission and bioaccumulation. The study also found that glutathione reductase and glutathione S-transferase activity were essential in the depuration of MCs in the tested plants. The findings suggest that legislation regulating the quality of irrigation water in terms of MC concentrations is necessary to prevent detrimental consequences to crops and human exposure.


Assuntos
Fragaria , Animais , Criança , Humanos , Gerbillinae , Microcistinas/toxicidade , Microcistinas/análise , Espectrometria de Massas em Tandem , Cadeia Alimentar , Água
14.
Sci Rep ; 13(1): 13561, 2023 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-37604835

RESUMO

Cyanobacterial exopolysaccharides (EPS) are potential candidates for the production of sustainable biopolymers. Although the bioactive and physicochemical properties of cyanobacterial-based EPS are attractive, their commercial exploitation is limited by the high production costs. Bioprospecting and characterizing novel EPS-producing strains for industrially relevant conditions is key to facilitate their implementation in various biotechnological applications and fields. In the present work, we selected twenty-five Portuguese cyanobacterial strains from a diverse taxonomic range (including some genera studied for the first time) to be grown in diel light and temperature, simulating the Portuguese climate conditions, and evaluated their growth performance and proximal composition of macronutrients. Synechocystis and Cyanobium genera, from marine and freshwater origin, were highlighted as fast-growing (0.1-0.2 g L-1 day-1) with distinct biomass composition. Synechocystis sp. LEGE 07367 and Chroococcales cyanobacterium LEGE 19970, showed a production of 0.3 and 0.4 g L-1 of released polysaccharides (RPS). These were found to be glucan-based polymers with high molecular weight and a low number of monosaccharides than usually reported for cyanobacterial EPS. In addition, the absence of known cyanotoxins in these two RPS producers was also confirmed. This work provides the initial steps for the development of cyanobacterial EPS bioprocesses under the Portuguese climate.


Assuntos
Bioprospecção , Synechocystis , Portugal , Clima , Temperatura
15.
Cureus ; 15(3): e35950, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37050990

RESUMO

Neonatal alloimmune thrombocytopenia (NAIT) and neonatal alloimmune neutropenia (NAIN) may have severe consequences in the neonatal period. We report two dizygotic twins conceived after donated oocytes, suffering NAIT and NAIN in the context of alloantibodies to human platelet antigens (anti-HPA-5b) and human leukocyte antigens (anti-HLA class I). Genotyping demonstrated paternal homozygosity for HPA-5a, while the neonates were heterozygous for HPA-5b.

16.
JCI Insight ; 8(5)2023 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-36883568

RESUMO

WHIM syndrome is an inherited immune disorder caused by an autosomal dominant heterozygous mutation in CXCR4. The disease is characterized by neutropenia/leukopenia (secondary to retention of mature neutrophils in bone marrow), recurrent bacterial infections, treatment-refractory warts, and hypogammaglobulinemia. All mutations reported in WHIM patients lead to the truncations in the C-terminal domain of CXCR4, R334X being the most frequent. This defect prevents receptor internalization and enhances both calcium mobilization and ERK phosphorylation, resulting in increased chemotaxis in response to the unique ligand CXCL12. Here, we describe 3 patients presenting neutropenia and myelokathexis, but normal lymphocyte count and immunoglobulin levels, carrying what we believe to be a novel Leu317fsX3 mutation in CXCR4, leading to a complete truncation of its intracellular tail. The analysis of the L317fsX3 mutation in cells derived from patients and in vitro cellular models reveals unique signaling features in comparison with R334X mutation. The L317fsX3 mutation impairs CXCR4 downregulation and ß-arrestin recruitment in response to CXCL12 and reduces other signaling events - including ERK1/2 phosphorylation, calcium mobilization, and chemotaxis - all processes that are typically enhanced in cells carrying the R334X mutation. Our findings suggest that, overall, the L317fsX3 mutation may be causative of a form of WHIM syndrome not associated with an augmented CXCR4 response to CXCL12.


Assuntos
Proteínas de Ligação ao GTP , Doenças da Imunodeficiência Primária , beta-Arrestinas , Humanos , beta-Arrestina 1/genética , beta-Arrestina 1/imunologia , beta-Arrestinas/genética , beta-Arrestinas/imunologia , Cálcio/metabolismo , Proteínas de Ligação ao GTP/genética , Proteínas de Ligação ao GTP/imunologia , Sistema de Sinalização das MAP Quinases/genética , Sistema de Sinalização das MAP Quinases/fisiologia , Mutação , Neutropenia/genética , Neutropenia/imunologia , Doenças da Imunodeficiência Primária/genética , Doenças da Imunodeficiência Primária/imunologia , Transdução de Sinais/genética , Transdução de Sinais/fisiologia , Verrugas/genética , Verrugas/imunologia
17.
SN Comput Sci ; 4(1): 11, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36267468

RESUMO

The spread of COVID-19 news on social media provided a particularly prolific ground for emotional commotion, disinformation and hate speech, as uncertainty and fear grew by the day. In this paper, we examine the media coverage of the COVID-19 outburst in Portugal (March-May 2020), the subsequent emotional engagement of audiences and the entropy-based emotional controversy generated as a gateway to detect the presence of hate speech, using computer-assisted qualitative data analysis (CAQDAS) embedded in a cross-sectional descriptive methodology. Our results reveal that negative and volatile categorical emotions ("Angry", "Haha" and "Wow") serve as main engines for controversy, and that controversial news have the highest sharing ratio. Moreover, using a small sample of the most controversial news with the highest overall emotional engagement, we establish a relation between the entropy-based emotional controversy obtained from Facebook's click-based reactions and the presence of cultural and ethnic hate speech, plausibly confirming the click-based categorical emotions as a gateway to hatred comment pools. In doing so, we also reveal that negative emotions alone do not always indicate the presence of hate speech, which may sprout in seemingly humorous social media posts where irony proliferates, and negativity is not apparent. This work adds to the literature on social media categorical emotion detection and its implications for the detection of hate speech.

19.
Foods ; 11(18)2022 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-36140897

RESUMO

This work evaluates the influence of the cellar conditions and bottle orientation, on the phenolic and volatile composition of a Vintage Port wine, sealed with natural cork stoppers, for 44 months post-bottling. The storage was performed in two different cellars, namely a cellar A with controlled temperature and humidity, and a cellar B, representing a traditional cellar, with uncontrolled temperature and humidity. The impact of bottle orientation was studied in cellar A, where the bottles were stored in horizontal and vertical positions. The phenolic and volatile composition of the bottled Vintage Port wine were analyzed after 6, 15 and 44 months. The results unveiled that the cellar conditions and bottle orientation had an impact in Port wine composition which was higher at 44 months post-bottling. The samples stored in the traditional cellar unveiled significantly higher yellow tones, lower tannin specific activity, and higher levels of furfural and 5-methylfurfural. Furthermore, the samples stored in the horizontal position revealed significant higher levels of total proanthocyanidins and higher tannin specific activity than the samples stored in the vertical position. Interestingly, for the first time to our knowledge, an ellagitannin-derived compound (Corklin) was detected in Vintage Port wines stored in the horizontal position, which results from the reaction of cork constituents with phenolic compounds present in wines.

20.
Foods ; 11(17)2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-36076822

RESUMO

This review presents the most recent data on the state-of-the-art of the main compounds present in cork, their interaction with wine, and the impact that natural stoppers may have on wines' physical-chemical and sensory properties. According to the recent scientific literature, the chemical composition of cork and the scientific relevance of the compounds extract from cork to wine over time are reviewed. Furthermore, the effect of cork compounds transfer into wines during post-bottling is also discussed, as well as their impact on the organoleptic (colour and taste) of wines. This knowledge is essential for the decision-making process undertaken by wine producers to select the stopper most suitable for their wines. In addition, sustainability is also a topic addressed since it is a natural product that generates some waste as well as the way in which this industry is adapting to the closure of the waste cycle.

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