Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat's cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant "functional" differences between male and female individuals.S

Data from : Environmental predictability drives adaptive within- and transgenerational plasticity of heat tolerance across life stages and climatic regions

Although environmental variability and predictability have been proposed as the underlying ecological context in which transgenerational plasticity (TGP) arises, the adaptive significance and interaction with within-generation plasticity (WGP) in such scenarios is still poorly understood. In order to investigate these questions, we considered the tolerance to upper thermal limits of larvae and adults of the desert endemic Drosophila mojavensis adapted to different climatic regions (Desert vs Mediterranean climate). Thermal plasticity was investigated by acclimating parents and offspring at 36&deg;C (versus at 25&deg;C). We then used historical temperature variation data from both regions to perform individual-based simulations by modeling expected components of adaptive plasticity in multiple life stages. Thermal response to ramping heat shocks was more pronounced in larvae, where acclimation treatments in parents and offspring increased their heat-shock performance, while heat knockdown in adults was only increased by offspring acclimation of adults. The relative contribution of WGP and TGP was greater for the population from the more thermally variable Sonoran Desert. Similarly, individual-based simulations of evolving maternal effects indicated that variation in tolerance to upper thermal limits across life stages and climates is expected from its adaptive significance in response to environmental predictability. Our approach offers a new perspective and interpretation of adaptive plasticity, demonstrating that environmental predictability can drive thermal responses across generations and life stages in a scenario with regional climate variability.,The methods for this dataset can be found in the asociated scientific article.,The data is divided in three excel sheets, one for each type of response variable: Viability: For data on larval viability in response to heat treatments Development time: For data on developmental time in response to heat treatments Knockdown: Data on the heat knockdown time as a response to heat treatments Headers of factor columns: population: The population sampled heat-shock_period: Time used for heat shocks in hours temp_parents: acclimation performed in parents in Celsius temp_acclimation_larva: acclimation performed in F1 larva in Celsius temp_acclimation_adult: acclimation performed in F1 adults in Celsius sex: sex of adult flies Headers of response variables: larva-pupa_viability: larva-to-pupa viability larva-adult_viability: larva-to-adult viability larva-pupa_std_viability: larva-to-adult standardized viability larva-adult_std_viability: larva-to-adult-standardized viability larva-pupa_dev: larva-to-pupa development time in days larva-adult_dev: larva-to-adult development time in days pupa-adult_dev: pupa-to-adult development time in days knockdown_time: Heat knockdown time in minutes,</span

Benign and Atypical Meningioma Metabolic Signatures by High-Resolution Magic-Angle Spinning Molecular Profiling

Meningiomas are neoplasms that arise from the leptomeningeal covering of the brain and spinal cord, accounting for 15%-20% of CNS tumors. The WHO classifies meningiomas into three histological grades: benign, atypical, and anaplasic in accordance with the clinical prognosis. Atypical and anaplasic meningiomas tend to recur. Sometimes, meningiomas with histological diagnosis of benign meningioma show clinical characteristics of atypical meningioma. In this context, high-resolution magicangle spinning (HR-MAS) spectroscopy of intact tissue from brain tumor biopsies has shown great potential as a support diagnostic tool. In this work, we show differences between benign and atypical meningiomas in HR-MAS molecular profiles of meningioma biopsies. Metabolic differences between meningioma grades include changes in the levels of glutathione. Glutathione role in cancer is still unclear, as it may act both as protective and pathogenic factor. Glutamine and glutamate, which are related to glutathione metabolism and have been associated with tumor recurrence, are also increased in atypical meningiomas. Other metabolites associated with tumor malignancy that show statistically significant differences between benign and atypical meningiomas include phosphocholine and phosphoethanolamine. Overall, this work suggests that the additional information obtained by NMR metabolomics applied to biopsies of human meningiomas may be useful for assessing tumor grade and determining optimum treatment strategies

Latin America in the 19th Century

This exhibit is a culmination of UT students’ collaborative effort to select, curate, and digitize original documents held in the Nettie Lee Benson Latin American Collection that reveal the region’s tumultuous and transformative 19th-century journeys towards modernity.Department of History & LLILAS Benson Latin American Studies and CollectionsLatin American Studie

Bufete jurídico gratuito en Guadalajara

El objetivo del bufete jurídico del ITESO es construir de manera conjunta alternativas de solución a problemas de acceso a la justicia, con base en los derechos humanos, la cultura de paz y la pedagogía ignaciana. Para esto, se desarrolla todo un proceso de acompañamiento jurídico, cuya metodología sigue los siguientes pasos (que varían según el caso): se comienza con la asignación de casos y las asesorías jurídicas; después se realiza un dictamen; se da seguimiento a los casos y a los procesos jurídicos y administrativos pertinentes, como las visitas a los juzgados, la realización de mediaciones o conciliaciones o el acompañamiento a registros civiles; el proceso termina con la resolución de los casos o la asignación de estos a las autoridades pertinentes que les darán seguimiento. A su vez, se realiza trabajo de investigación y se participa en distintos escenarios - como el Instituto de Justicia Alternativa (IJA) y la atención a migrantes y refugiados - y en proyectos de justicia itinerante. Los resultados principales del PAP son: las asesorías integrales brindadas, en las que se dio atención a más de 184 personas; los dictámenes, y demás documentos elaborados pertinentes a los casos, como las demandas; la solución de diversos conflictos; una compilación de información sobre el tema de migración; documentos de difusión y promoción; y un taller impartido en el marco del trabajo con el IJA. Así, este PAP fue un espacio de aprendizaje, reflexión y crecimiento, donde el trabajo se realizó de manera horizontal y con base en los valores propios del proyecto