152 research outputs found
Nuevo registro de un metaterio carnivoro (Sparassodonta) de Cerro Zeballos (Formación Collón Curá), Chubut, Argentina
El orden Sparassodonta representa el clado de metaterios que ocupó el nicho ecológico de carnívoros predadores en Sudamérica durante gran parte del Cenozoico. Los registros más antiguos provienen del Paleogeno, y su biocrón se extiende hasta el Plioceno tardío. Actualmente se conocen tres especies de Sparassodonta en Formación Collón Curá (Mioceno medio), dos de la familia Hathliacynidae (Pseudonotictis chubutensis y Cladosictis patagonica) de Cerro Zeballos, provincia de Chubut, de Puesto Familia González y Estancia La Alemana en la provincia de Río Negro, respectivamente, y una especie de la familia Thylacosmilidae (Patagosmilus goini) de Río Chico, en la provincia de Río Negro. En este trabajo damos a conocer dos especímenes del más grande, hasta elmomento, metaterio carnívoro (Metatheria, Sparassodonta) del Mioceno Medio, de la localidad fosilífera de Cerro Zeballos, al noroeste de la provincia de Chubut. El espécimen LIEB-PV 10000 consiste en un cráneo parcial, incluye el paladar con ambos premaxilares parciales, maxilares, nasales, lacrimal derecho, palatino y varios dientes superiores. El cráneo presenta una morfología dentaria con adaptaciones carnívoras distintivas; ambos caninos, de sección subtriangular y relativamente comprimidos; P3 y P2 derechos, ambos unicuspidados y con dos raíces, separados por un largo diastema; M1-4 de ambos lados, con un moderado desgaste; M1-3 trirradiculados y M4 con dos raíces. El espécimen LIEB-PV 9999 consiste una hemimandíbula parcial derecha con p4 completo, trigónido de m1 y raíces de p1-2. Análisis preliminares permiten inferir que ambos especímenes corresponderían al mismo taxón perteneciente a la familia Hathliacynidae.Comparaciones con el holotipo de Pseudonotictis chubutensis (LIEB-PV 10001), el único hatliacínido descripto para la localidad, permiten inferir que se trataría de un taxón diferente, a juzgar no solo por la diferencia de tamaño (aproximadamente el doble) sino por diferencias a nivel de estructuras dentarias, especialmente en el M2. Futuros estudios167anatómicos y filogenéticos permitirán determinar con mayor exactitud su estatus taxonómico y su relación con el resto de los Sparassodonta del sur de Sudamérica.Fil: Novo, Nelson Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Geología y Paleontología; ArgentinaFil: González, J. L.. Universidad Nacional de la Patagonia "San Juan Bosco"; ArgentinaFil: Martin, Gabriel Mario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Centro de Investigación Esquel de Montaña y Estepa Patagónica. Universidad Nacional de la Patagonia "San Juan Bosco". Centro de Investigación Esquel de Montaña y Estepa Patagónica; ArgentinaFil: Gonzalez Ruiz, Laureano Raul. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Centro de Investigación Esquel de Montaña y Estepa Patagónica. Universidad Nacional de la Patagonia "San Juan Bosco". Centro de Investigación Esquel de Montaña y Estepa Patagónica; ArgentinaFil: Tejedor, Marcelo Fabian. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Centro de Investigación Esquel de Montaña y Estepa Patagónica. Universidad Nacional de la Patagonia "San Juan Bosco". Centro de Investigación Esquel de Montaña y Estepa Patagónica; Argentina. Universidad de Zaragoza; EspañaReunión de Comunicaciones de la Asociación Paleontológica ArgentinaArgentinaAsociación Paleontológica ArgentinaUniversidad Nacional de Río Negr
Cholesterol granuloma presenting as a mass obstructing the external ear canal
<p>Abstract</p> <p>Background</p> <p>Cholesterol granuloma (CG) may involve the middle ear, the mastoid bone and the petrous apex. However, CG presenting as a mass obstructing the external ear canal (EEC) is relatively rare and it can be a diagnostic challenge.</p> <p>Case Presentation</p> <p>We report a case of a CG occupying the mastoid antrum and presenting as a mass into the EEC. Temporal bone computerized tomography showed a soft tissue mass which eroded the posterior-superior bony wall of the EEC. On magnetic resonance imaging, the mass revealed a high signal on both T1 and T2-weighted images. The CG was removed by a mastoidectomy procedure and the histopathologic report confirmed the diagnosis of CG. A type III tympanoplasty was performed.</p> <p>Conclusions</p> <p>The postoperative course was uneventful.</p
A Novel Technique to Label Cover Crop Biomass Using Stable Isotopes
Stable isotopes can be used as tracers for carbon and nitrogen pathways being a great tool to track nutrients in integrated systems. The objective of this experiment was to understand the partitioning of 15N and 13C within cover crop plants when they were labeled with stable isotopes, using chambers under field conditions. Cover crops were planted at the University of Florida, North Florida Research and Education Center-Marianna, located in Marianna, FL. Treatments were four cover crops, in which one was considered a typical cover crop system and the other three consisted of an integrated crop-livestock system with or without the inclusion of legume or different nitrogen fertilizer rates grazed every two weeks. All treatments were replicated three times in a randomized complete block design. Two chambers were built and placed in each plot to label the cover crop plants. For the 15N labeling, 15N2-labeled urea (98 atom% 15N) was applied at a rate of 0.5 kg N ha-1 only once. The target amount of 13CO2 (99 atom% 13C) was determined considering a 20% enrichment of the CO2 concentration present inside the chamber’s volume. The 13CO2 labeling was performed for 28 consecutive days. The labeling technique using chambers and stable isotopes to enrich cover crop species worked under field conditions for both, grass and legume species. Moving forward, this labeling technique can be a useful tool to track nutrient pathways, especially litter decomposition in diversified integrated crop and livestock systems under different management practices
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classification is still difficult. To address this challenge, we extended the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by health care professionals. We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. To illustrate their value, the representations are applied to three problems in variant interpretation. The assessment of computational pathogenicity predictions showed that the graphics provide an intuitive view of pre-diction reliability, complementing and extending conventional numerical reliability indexes. When applied to variant of unknown significance populations, the representations shed light on the nature of these variants and can be used to prioritize variants of unknown significance for further studies. In a third application, the graphics were used to compare the two versions of the ATM-adapted American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, obtaining valuable information on their relative virtues and weaknesses. Finally, a server [ATMision (ATM missense in silico interpretation online)] was generated for users to apply these representations in their variant interpretation problems, to check the ATM-adapted guidelines' criteria for computational evidence on their variant(s) and access different sources of information. (J Mol Diagn 2024, 26: 17-28; https://doi.org/10.1016/j.jmoldx.2023.09.009
Fractionation of eucalyptus globulus wood by glycerol-water pretreatment: optimization and modeling
A glycerol-organosolv process can be a good alternative for Eucalyptus wood fractionation into its main
compounds, improving the enzymatic saccharification of the cellulose. A study of process variables - glycerol−water percent
content, temperature, and process time - was carried out using a Box-Behnken experimental design. The cellulose obtained from
pretreated solids was recovered almost quantitatively, leading to a solid with a high percentage of cellulose (77 g/100 g of
pretreated solid), low lignin content (9 g/100 g of pretreated solid), and 18% of residual hemicellulose in the solid at 200 °C,
56% of glycerol−water and 69 min. The enzymatic saccharification was enhanced achieving 98% cellulose-to-glucose conversion
(under conditions: liquid to solid ratio 20 g/g and enzyme loading 20 FPU/g of solid). This study contributes to the
improvement of biomass fractionation by exploring an eco-friendly treatment which allows for almost complete wood
fractionation into constituents and high levels of glucose recovery available for subsequent yeast fermentation to bioethanol.The authors A. Romani and F. B. Pereira thank to the Portuguese Foundation for Science and Technology (FCT, Portugal) for their fellowships (grant number: SFRH/BPD/77995/2011 and SFRH/BD/64776/2009, respectively)
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Background
Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large gene, showing a high number of variants, most of them of uncertain significance. Hence, we initiated a collaborative effort to improve and standardize variant classification for the ATM gene.
Methods
Six independent laboratories collected information from 766 ATM variant carriers harboring 283 different variants. Data were submitted in a consensus template form, variant nomenclature and clinical information were curated, and monthly team conferences were established to review and adapt American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria to ATM, which were used to classify 50 representative variants.
Results
Amid 283 different variants, 99 appeared more than once, 35 had differences in classification among laboratories. Refinement of ACMG/AMP criteria to ATM involved specification for twenty-one criteria and adjustment of strength for fourteen others. Afterwards, 50 variants carried by 254 index cases were classified with the established framework resulting in a consensus classification for all of them and a reduction in the number of variants of uncertain significance from 58% to 42%.
Conclusions
Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.FEDER funds-a way to build Europe
PI19/00553
PI16/00563
PI16/01898
SAF2015-68016-RGeneralitat de Catalunya
2017SGR1282
2017SGR496CERCA Program: Government of CataloniaXunta de GaliciaInstituto de Salud Carlos III. AES
PI19/00340Spanish Government
SAF2016-80255-REuropean Commission
EFA086/15Instituto de Salud Carlos III
European Commissio
The impact of the Great Recession on mental health and its inequalities: the case of a Southern European region, 1997–2013
Background: Numerous studies have shown that macroeconomic changes have a great influence on health, prompting different concerns in recent literature about the effects of the current recession. The objetive of the study was to assess the changes in the mental health of the working-age population in the Basque Country (Spain) and its social inequalities following the onset of the 2008 recession, with special focus on the role of unemployment.
Methods: Repeated cross-sectional study on the population aged 16-64, using four Basque Health Surveys (1997-2013). Age-adjusted prevalences of poor mental health and incremental prevalence ratios (working status and social class adjusted) between years were calculated. Absolute/relative measures of social inequalities were also calculated.
Results: From 2008, there was a clear deterioration in the mental health, especially among men. Neither changes in employment status nor social class accounted for these changes. In men, the deterioration affected all working status categories, except the retired but significant changes occurred only among the employed. In women, poor mental health significantly increased among the unemployed. Students were also especially affected. Relative inequalities increased only in men.
Conclusions: The Great Recession is being accompanied by adverse effects on mental health, which cannot be fully explained by the increase of unemployment. Public healtThis work was partially supported by the Ministry of Economy and Competitiveness (State Programme for Promotion of Scientific and Technical Research Challenges (CSO2013-44886-R))
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