71 research outputs found

    Blood Phytosterol Concentration and Genetic Variant Associations in a Sample Population

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    The main objective of this study was to determine plasma levels of PS and to study SNVs rs41360247, rs4245791, rs4148217, and rs11887534 of ABCG8 and the r657152 SNV at the ABO blood group locus in a sample of a population treated at our hospital, and to determine whether these SNVs are related to plasma PS concentrations. The secondary objective was to establish the variables associated with plasma PS concentrations in adults. Participants completed a dietary habit questionnaire and a blood sample was collected to obtain the following variables: campesterol, sitosterol, sitostanol, lanosterol, stigmasterol, biochemical parameters, and the SNVs. In addition, biometric and demographic variables were also recorded. In the generalized linear model, cholesterol and age were positively associated with total PS levels, while BMI was negatively related. For rs4245791, homozygous T allele individuals showed a significantly lower campesterol concentration compared with C homozygotes, and the GG alleles of rs657152 had the lowest levels of campesterol compared with the other alleles of the SNV. Conclusions: The screening of certain SNVs could help prevent the increase in plasma PS and maybe PNALD in some patients. However, further studies on the determinants of plasma phytosterol concentrations are needed

    Collapsing Glomerulonephritis in a Kidney Transplant Recipient after mRNA SARS-CoV-2 Vaccination

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    With the vaccination against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), studies are describing cases of glomerulonephritis arising after vaccination. We present the first case of a kidney transplant patient who, after mRNA vaccination against SARS-CoV-2, developed nephrotic proteinuria and renal dysfunction, with a biopsy diagnostic of collapsing glomerulonephritis. No other triggers for this glomerulonephritis were identified. Antibodies against the spike protein were negative, but the patient developed a specific T-cell response. The close time between vaccination and the proteinuria suggests a possible determinant role of vaccination. We should be aware of nephropathies appearing after COVID-19 vaccination in kidney transplant recipients also

    Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans

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    Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by myelin vacuolization and caused by mutations in MLC1 or GLIALCAM. Patients with recessive mutations in either MLC1 or GLIALCAM show the same clinical phenotype. It has been shown that GLIALCAM is necessary for the correct targeting of MLC1 to the membrane at cell junctions, but its own localization was independent of MLC1 in vitro. However, recent studies in Mlc1−/− mice have shown that GlialCAM is mislocalized in glial cells. In order to investigate whether the relationship between Mlc1 and GlialCAM is species-specific, we first identified MLC-related genes in zebrafish and generated an mlc1−/− zebrafish. We have characterized mlc1−/− zebrafish both functionally and histologically and compared the phenotype with that of the Mlc1−/− mice. In mlc1−/− zebrafish, as in Mlc1−/− mice, Glialcam is mislocalized. Re-examination of a brain biopsy from an MLC patient indicates that GLIALCAM is also mislocalized in Bergmann glia in the cerebellum. In vitro, impaired localization of GlialCAM was observed in astrocyte cultures from Mlc1−/− mouse only in the presence of elevated potassium levels, which mimics neuronal activity. In summary, here we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotyp

    Black carbon in the Southern Andean snowpack

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    The Andean snowpack is an important source of water for many communities. As other snow-covered regions around the world, the Andes are sensitive to black carbon (BC) deposition from fossil fuel and biomass combustion. BC darkens the snow surface, reduces the albedo, and accelerates melting. Here, we report on measurements of the BC content conducted by using the meltwater filtration (MF) technique in snow samples collected across a transect of more than 2500 km from the mid-latitude Andes to the southern tip of South America. Addressing some of the key knowledge gaps regarding the effects of the BC deposition on the Andean snow, we identified BC-impacted areas, assessed the BC-related albedo reduction, and estimated the resulting snow losses. We found that BC concentrations in our samples generally ranged from 2 to 15 ng g-1, except for the nearly BC-free Patagonian Icefields and for the BC-impacted sites nearby Santiago (a metropolis of 6 million inhabitants). We estimate that the seasonal snowpack shrinking attributable to the BC deposition ranges from 4 mm water equivalent (w.e.) at relatively clean sites in Patagonia to 241 mm w.e. at heavily impacted sites close to Santiago. © 2022 The Author(s). Published by IOP Publishing Ltd

    Black carbon in the Southern Andean snowpack

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    The Andean snowpack is an important source of water for many communities. As other snow-covered regions around the world, the Andes are sensitive to black carbon (BC) deposition from fossil fuel and biomass combustion. BC darkens the snow surface, reduces the albedo, and accelerates melting. Here, we report on measurements of the BC content conducted by using the meltwater filtration (MF) technique in snow samples collected across a transect of more than 2500 km from the mid-latitude Andes to the southern tip of South America. Addressing some of the key knowledge gaps regarding the effects of the BC deposition on the Andean snow, we identified BC-impacted areas, assessed the BC-related albedo reduction, and estimated the resulting snow losses. We found that BC concentrations in our samples generally ranged from 2 to 15 ng g-1, except for the nearly BC-free Patagonian Icefields and for the BC-impacted sites nearby Santiago (a metropolis of 6 million inhabitants). We estimate that the seasonal snowpack shrinking attributable to the BC deposition ranges from 4 mm water equivalent (w.e.) at relatively clean sites in Patagonia to 241 mm w.e. at heavily impacted sites close to Santiago. © 2022 The Author(s). Published by IOP Publishing Ltd

    Association of APOA5 and APOC3 genetic polymorphisms with severity of hypertriglyceridemia in patients with cutaneous T-Cell lymphoma treated with bexarotene

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    Importance: hypertriglyceridemia is the most frequent and limiting adverse effect of bexarotene therapy in cutaneous T-cell lymphoma (CTCL). Despite standard prophylactic measures, there is a wide variability in the severity of this complication, which could be associated with both genetic and environmental factors. Objectives: to analyze the association between genetic polymorphisms of apolipoprotein genes APOA5, APOC3, and APOE and the severity of hypertriglyceridemia during bexarotene therapy and to optimize patient selection for bexarotene therapy based on adverse effect profile. Design, Setting, and Participants: this case series study was conducted in 12 university referral hospitals in Spain from September 17, 2014, to February 6, 2015. One hundred twenty-five patients with a confirmed diagnosis of CTCL who had received bexarotene therapy for at least 3 months were enrolled. Nine patients were excluded owing to missing analytic triglyceride level data, leaving a study group of 116 patients. Data on demographic and cardiovascular risk factor were collected, and a complete blood analysis, including lipid profile and genetic analysis from a saliva sample, was performed. Main Outcomes and Measures: primary outcomes were the maximal triglyceride levels reported in association with the minor alleles of the polymorphisms studied. Results: among 116 patients, the mean (SD) age was 61.2 (14.7) years, 69 (59.5%) were men, and 85 (73.2%) had mycosis fungoides, the most prevalent form of CTCL. During bexarotene therapy, 96 patients (82.7%) experienced hypertriglyceridemia, which was severe or extreme in 8 of these patients (8.3%). Patients who carried minor alleles of the polymorphisms did not show significant differences in baseline triglyceride concentrations. After bexarotene treatment, carriers of at least 1 of the 2 minor alleles of APOA5 c.-1131T>C and APOC3 c.*40C>G showed lower levels of triglycerides than noncarriers (mean [SD], 241.59 [169.91] vs 330.97 [169.03] mg/dL, respectively; P = .02). Conclusions and Relevance: these results indicate that the screening of APOA5 and APOC3 genotypes may be useful to estimate changes in triglyceride concentrations during bexarotene treatment in patients with CTCL and also to identify the best candidates for bexarotene therapy based on the expected adverse effect profile

    Black carbon footprint of human presence in Antarctica

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    Black carbon (BC) from fossil fuel and biomass combustion darkens the snow and makes it melt sooner. The BC footprint of research activities and tourism in Antarctica has likely increased as human presence in the continent has surged in recent decades. Here, we report on measurements of the BC concentration in snow samples from 28 sites across a transect of about 2,000 km from the northern tip of Antarctica (62°S) to the southern Ellsworth Mountains (79°S). Our surveys show that BC content in snow surrounding research facilities and popular shore tourist-landing sites is considerably above background levels measured elsewhere in the continent. The resulting radiative forcing is accelerating snow melting and shrinking the snowpack on BC-impacted areas on the Antarctic Peninsula and associated archipelagos by up to 23 mm water equivalent (w.e.) every summer

    Cuantificación microlisimétrica del consumo de agua residual tratada en la nochebuena (Euphorbia pulcherrima Willd. ex Klotzsch)

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    En un cultivo de nochebuena en un invernadero instrumentado en Jiutepec, Morelos, se midió el consumo de agua residual tratada (ART) con microlisímetros de succión de macetas de polietileno de 15 cm de diámetro con sustratos de granulometría similar N, V y A, donde N = tierra de hoja/ tezontle/fibra de coco en proporción 60:20:20; V = tierra de hoja/tezontle/agrolita/fibra de coco (86:7:3.5:3.5); A = fibra de coco/tierra de hoja/agrolita (40:40:20), y el consumo de agua mediante microlisímetros de balance con sustrato N (BN); 11 de 22 variables presentaron diferencia significativa; BN tiene los valores más altos y V los menores; N es igual a A, para todas las variables analizadas. Las brácteas tienen diferencias en área, peso fresco y peso seco, sin diferencias en color L*, C* y h; las hojas no tienen diferencias en área ni en contenido de clorofila, y sí tienen en peso fresco y seco. Peso fresco y seco de raíz sin diferencias significativas. El sustrato A presentó mejores resultados agronómicos que N y V. El consumo de ART de la nochebuena puede ser afectado por tipo de planta y método de riego. En las semanas después del trasplante 2 (posterior al pinchado), 8, 9 y 10 (inicio de pigmentación), existen diferencias entre tratamiento y coincide con un periodo de disminución del consumo de ART. El microlisímetro de succión es una herramienta para cuantificar el consumo de ART en nochebuena
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