21 research outputs found

    Conducta de apareamiento de Setipellis stigmatica (Gastropoda: Cepolidae) en cautiverio, morfología del dardo y del espermatóforo

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    Setipellis stigmatica (Cepolidae) es un caracol hermafrodita, endémico cubano, cuya conducta de apareamiento se desconoce. Se describen su conducta de apareamiento y uso del aparato del dardo, en cautiverio, incluidos datos sobre morfología del dardo y espermatóforo. El trabajo se realizó en noviembre 2012 y entre enero-febrero 2016. Se recolectaron 13 individuos en Escaleras de Jaruco, Cuba, que se mantuvieron aislados en recipientes plásticos entre siete y 14 días previos a jornadas de apareamiento. La duración promedio del apareamiento fue 164 min y consistió en tres etapas: cortejo, cópula y post-cópula. Como promedio, el cortejo duró 107 min, e incluyó contactos táctiles y orales, así como consumo de mucus secretado por órganos genitales parcialmente evertidos durante intentos de intromisión. La cópula se inició simultáneamente con duración promedio de 43 min. Durante esta etapa tuvo lugar el intercambio recíproco de espermatóforos. El espermatóforo tiene tres regiones: cuello, cuerpo y cola, sin espinas, aunque con crestas transversales en el cuello y el cuerpo. Existe una protuberancia en el cuerpo justo en su unión con el cuello. Se sugiere que esta protuberancia retrasa el movimiento del espermatóforo al interior de la bolsa copulatriz. La post-cópula promedió 9 min de duración y el desacople de los penes marcó su inicio. Durante todo el apareamiento, las parejas no mostraron movimientos circulares, pero utilizaron sus aparatos del dardo de dos formas: frotes y pinchazos, dirigidos fundamentalmente a la región anterior del cuerpo de su pareja, usualmente sin pérdida del dardo

    New insights into the genetic etiology of Alzheimer's disease and related dementias

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    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

    Whole-genome sequencing reveals host factors underlying critical COVID-19

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    Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

    Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

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    Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues

    Whole-genome sequencing reveals host factors underlying critical COVID-19

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    Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease

    Composición y estructura en agregaciones de moluscos terrestres en el Complejo de vegetación de mogote, Escaleras de Jaruco, Cuba

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    Cuba has one of the richest land snail faunas of the world. This important fact has promoted different kind of studies on this group to promote conservation programs, from which many studies have directed their efforts to inventories, and population and community ecology. To contribute with this population knowledge, we studied land snails assemblages in three karstic elevations at the “Escaleras de Jaruco-Tapaste-Cheche” Natural Protected Landscape, Mayabeque, Cuba. We aimed to analyze the variation of the composition and structure of the assemblages between the rainy and little rainy months. The study was conducted from August to November 2009 and from January to April, 2010, in ten permanent square plots (9m2) separated for over 20m, on each elevation (Beluca, La Chirigota and La Jaula). In each plot, only live individuals were registered (physiologically active and at rest) to obtain species richness and abundance; besides, temperature (oC) and relative humidity (%) were also considered in each plot. A total of 4 248 individuals were observed which comprised two subclasses, five orders, 11 families, 20 genera and 21 species of terrestrial molluscs. From the total, 19 were Cuban endemics and eight were exclusive from Mayabeque, Matanzas. The Jaula showed the greater riches with 19 species, followed of Beluca with 17, and The Chirigota with 15. In the rainy months, La Jaula, showed individual’s greater abundance with 1 707, followed of Beluca with 1 305 and La Chirigota with 1 236. We observed differences in the population density in the three elevations between the rainy and little rainy months, which can be due to the climatic adverse conditions that are shown at the little rainy months. Additionally, during the survey we observed dominance of prosobranch species over the pulmonates. The specific abundance curves showed a steep slope, although was major in the rainy months in relation to the little rain months, which indicates the presence of dominant, common and rare species in the assemblages. In this study, it was demonstrated than the riches and the abundance of land snails in all three elevations, was favored for the elevated relative humidity and the air temperature during the rainy months. These environmental conditions resulted fundamental for the survival of these terrestrial gastropods, as the reproduction and search of food were favored.Estudiamos las agregaciones de moluscos terrestres de tres elevaciones cársicas en el Paisaje Natural Protegido “Escaleras de Jaruco-Tapaste-Cheche”, Mayabeque, Cuba. Se analizaron las variaciones de la composición y la estructura de las agregaciones entre los meses lluviosos y poco lluviosos. El estudio fue realizado desde agosto a noviembre 2009 y entre enero y abril 2010 en diez parcelas cuadradas permanentes (9m2) en cada elevación. En cada parcela se registraron solamente los individuos vivos (fisiológicamente activos y en reposo), el estudio fue de observación/trabajo de campo. Dentro de cada parcela se registró la riqueza de especie y abundancia. En cada parcela se midió la temperatura (°C) y la humedad relativa (%), se observaron 4 248 individuos de dos subclases, cinco órdenes, 11 familias, 20 generos y 21 especies de moluscos terrestres; 19 son endémicos cubanos y ocho de ellos lo son de la región Mayabeque-Matanzas. Se observaron diferencias entre los meses lluviosos y poco lluviosos en la densidad poblacional entre las tres elevaciones, lo cual puede deberse a las condiciones climáticas adversas en los meses poco lluviosos. Durante los meses muestreados se detectó una dominancia de las especies operculadas sobre las pulmonadas. Las curvas de rango-abundancia se caracterizaron por tener una pendiente pronunciada, lo cual indica la presencia de especies dominantes, comunes y raras en las agregaciones

    Influencia de dos tipos de dietas sobre la talla y el peso corporal en neonatos de Crocodylus acutus Cuvier, 1807 (Crocodylidae: Crocodylia) del zoocriadero de Manzanillo, Cuba

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    An experiment was designed with 90 neonates of the American crocodile, Crocodylus acutus, that were raised and fed with a standard diet during 50 days and with two experimental diets for 30 days, in three groups (A, B, C) kept in experimental square tanks during 30 days at the Manzanillo Zoocriadero (Province of Granma). The influence on size and body weight increase of two types of diets against the standard diet in C. acutus was analyzed, as well as the economic costs associated. The sea fish diet (B) is more effective compared to the standard diet of fish, cow liver and lung (A) and to the fly maggot diet (C), since the growth rate of neonates was 35 mm /day, growing 1.35 times more. The weight increase was 3.71 g/day, higher than the increases obtained with the other two diets. It was demonstrated that with diet B neonates grew 1.35 times more than with the diets A and C. However, each neonate fed with diet B costs 14 times more than those fed with the other two dietsSe diseñó un experimento con 90 neonatos del cocodrilo americano, Crocodylus acutus, que fueron criados y alimentados con una dieta patrón por 50 días y dos dietas experimentales por 30 días, en tres grupos (A, B, C) mantenidos por separado en corrales en el Zoocriadero de Manzanillo (Provincia Granma) así como el costo de las mismas. Se analizó la influencia de dos tipos de dietas contra la dieta patrón sobre la talla y el incremento del peso corporal en C. acutus, así como el costo de las mismas. La dieta con pescados marinos (B) es más efectiva que la dieta patrón compuesta de pescados, hígado y pulmón de res (A) y que la de larvas de moscas (C), ya que la tasa de crecimiento de los neonatos fue de 3.5 mm / día. Los ejemplares con la dieta B crecieron 1.35 veces más con un incremento en peso de 3.71 g / día, valores superiores a los correspondientes a las otras dos dietas que incluyó la patrón. Se demostró que con la dieta B los neonatos crecen más que con las dietas A y C, sin embargo cada neonato alimentado con la dieta B cuesta 14 veces más que con las otras dos

    Effects of Persea americana Mill. seed extracts on the postembryonic development of Musca domestica (Diptera: Muscoide)

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    Context: The synthetic insecticides used to control Diptera are harmful to the environment and humans. Extracts and compounds from plants are a more sustainable source for the development of bio-insecticides. Aims: To evaluate the efficacy of a hydroalcoholic extract of Persea americana Mill seeds as an alternative control of the species Musca domestica. Methods: The extracts were obtained by two methods, the Shaker (S) and the Soxhlet extraction (SE) method, using 94% ethanol as the solvent. Also, the qualitative chemical composition was determined by phytochemical screening. The effect of the two extracts on the post-embryonic development of the fly as well as the adulticidal effect was evaluated. Results: Phytochemical analysis revealed the presence of metabolites such as alkaloids, coumarins, tannins, flavonoids, sugars and amino acids. The influence on the post-embryonic development of M. domestica was demonstrated, especially on the viability of larvae and neolarvae to adults; however, the effect on the weight and duration of each period was low. The adulticidal effects of the extracts were determined by the lethal concentration 50(LC50) of 2.910 mg/100 mL and 3.944 mg/100 mL for the S and SE extracts, respectively. Conclusions: Both extracts showed their insecticidal effects against Musca domestica, but the extract elaborated by S method showed greater influence diminishing viability and better adulticidal effect

    Acute Toxicity and Dermal and Eye Irritation of the Aqueous and Hydroalcoholic Extracts of the Seeds of (Zapote) Pouteria mammosa (L.) Cronquist

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    Submitted by sandra infurna ([email protected]) on 2016-02-22T15:23:33Z No. of bitstreams: 1 carlos_dutok_etal_IOC_2015.pdf: 1308275 bytes, checksum: b8d80050a440b8b907569f67b2d3f5fd (MD5)Approved for entry into archive by sandra infurna ([email protected]) on 2016-02-22T15:39:38Z (GMT) No. of bitstreams: 1 carlos_dutok_etal_IOC_2015.pdf: 1308275 bytes, checksum: b8d80050a440b8b907569f67b2d3f5fd (MD5)Made available in DSpace on 2016-02-22T15:39:38Z (GMT). No. of bitstreams: 1 carlos_dutok_etal_IOC_2015.pdf: 1308275 bytes, checksum: b8d80050a440b8b907569f67b2d3f5fd (MD5) Previous issue date: 2015Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Entomologia Médica e Forense. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Programa de Pós-Graduação em Biodiversidade e Saúde. Rio de Janeiro, RJ, Brasil / Universidad de Oriente. Facultad de Ciencias Naturales. Departamento de Farmácia. Santiago de Cuba, Cuba.Universidad de Ciencias Médicas de Santiago de Cuba. Centro de Toxicología y Biomedicina. Santiago de Cuba, Cuba.Universidad de Ciencias Médicas de Santiago de Cuba. Centro de Toxicología y Biomedicina. Santiago de Cuba, Cuba.Universidad de Ciencias Médicas de Santiago de Cuba. Centro de Toxicología y Biomedicina. Santiago de Cuba, Cuba.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Entomologia Médica e Forense. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Programa de Pós-Graduação em Biodiversidade e Saúde. Rio de Janeiro, RJ, Brasil / Universidad de Oriente. Facultad de Ciencias Naturales. Departamento de Farmácia. Santiago de Cuba, Cuba.Universidad de Oriente. Facultad de Ciencias Naturales. Departamento de Farmácia. Santiago de Cuba, Cuba.Universidad de Oriente. Facultad de Ciencias Naturales. Departamento de Biologia. Santiago de Cuba, Cuba.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Entomologia Médica e Forense. Rio de Janeiro, RJ, BrasilThe common use of Pouteria mammosa (L.) Cronquist, “Mamey or Zapote,” in food and ethnobotanic medicine shows its low or absent toxicity as fruit extracts prepared from seeds. However, it is essential to conduct security trials to scientifically support their use in drug therapy. This study evaluated the aqueous and hydroalcoholic extract (25%) Acute Oral Toxicity, obtained from the seeds of P. mammosa, in Sprague Dawley rats and dermal and eye irritability in New Zealand rabbits. The 404 and 405 acute dermal and eye irritation/corrosion guidelines were used, as well as the 423 Acute Oral Toxicity guideline, Acute Toxic Class Method of the Organization for Economic Cooperation and Development (OECD). The aqueous extract was located in the following category: not classified as toxic (CTA 5), while hydroalcoholic extract at 25% was classified as dangerous (CTA 4). Both extracts can be used without side reaction that irritates the skin which permitted classification as potentially not irritant. P. mammosa in the two extracts caused mild and reversible eye irritation, and it was classified as slightly irritating
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