Gene expression profile of rat left ventricles reveals persisting changes following chronic mild exercise protocol: implications for cardioprotection

<p>Abstract</p> <p>Background</p> <p>Epidemiological studies showed that physical exercise, specifically moderate lifelong training, is protective against cardiovascular morbidity and mortality. Most experimental work has focused into the effects and molecular mechanisms underlying intense, rather than mild exercise, by exploring the acute effect of training. Our study aims at investigating the cardioprotective effect of mild chronic exercise training and the gene expression profile changes at 48 hrs after the exercise cessation. Rats were trained at mild intensity on a treadmill: 25 m/min, 10%incline, 1 h/day, 3 days/week, 10 weeks; about 60% of the maximum aerobic power. By Affymetrix technology, we investigated the gene expression profile induced by exercise training in the left ventricle (LV) of trained (n = 10) and control (n = 10) rats. Cardioprotection was investigated by ischemia/reperfusion experiments (n = 10 trained vs. n = 10 control rats).</p> <p>Results</p> <p>Mild exercise did not induce cardiac hypertrophy and was cardioprotective as demonstrated by the decreased infarct size (p = 0.02) after ischemia/reperfusion experiments in trained with respect to control rats. Ten genes and 2 gene sets (two pathways) resulted altered in LV of exercised animals with respect to controls. We validated by real-time PCR the increased expression of four genes: similar to C11orf17 protein (RGD1306959), caveolin 3, enolase 3, and hypoxia inducible factor 1 alpha. Moreover, caveolin 3 protein levels were higher in exercised than control rats by immunohistochemistry and Western Blot analysis. Interestingly, the predicted gene similar to C11orf17 protein (RGD1306959) was significantly increased by exercise. This gene has a high homology with the human C11orf17 (alias: protein kinase-A interacting protein 1 or breast cancer associated gene 3). This is the first evidence that this gene is involved in the response to the exercise training.</p> <p>Conclusion</p> <p>Our data indicated that few, but significant, genes characterize the gene expression profile of the rat LV, when examined 48 hrs since the last training section and that mild exercise training determines cardioprotection without the induction of hypertrophy.</p

Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort

Purpose: To characterize the largest cohort of individuals with RDH12-retinal dystrophy to date, and the first one from South America. // Design: Retrospective multicenter international study. // Subjects: 78 patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12. // Methods: Review of clinical notes, ophthalmic images, and molecular diagnosis. // Main outcome measures: Visual function, retinal imaging and characteristics were evaluated and correlated. // Results: Thirty-seven individuals self-identified as Latino (51%) and 34 as White (47%). Mean age at the baseline visit was 19.8 ± 13 years old (6 months – 46 years old, median 18.5); 41 (53%) were children. Thirty-nine patients (50%) had subsequent visits, with mean follow-up of 6.8 + 7.3 years (0 – 29). Sixty-nine individuals (88%) had Leber congenital amaurosis/early onset severe retinal dystrophy (LCA/EOSRD). Macular and mid-peripheral atrophy was seen in all patients from 3 years of age. A novel retinal finding was a hyperautofluorescent ring in 2 young children with LCA. Eight variants (21%) were previously unreported and the most frequent variant was c.295C>A, p.Leu99Ile, present in 52 alleles of 32 probands. Individuals with LCA homozygous for p.Leu99Ile (31%) had a later age of onset, slower rate of BCVA decrease, the largest percentage of patients with mild visual impairment, and were predicted to reach legal blindness at an older age than the rest of the cohort. // Conclusions: By describing the largest molecularly confirmed cohort to date, improved understanding of disease progression was possible. Our detailed characterization aims to support research and the development of novel therapies that may have the potential to reduce or prevent vision loss in individuals with RDH12-associated retinal dystrophy

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region

I. Encuentro de la Red de Asentamientos Populares : aportes teórico-metodológicos para la reflexión sobre políticas públicas de acceso al hábitat

Contenidos Introducción / M. Cecilia Marengo, Ana Laura Elorza, Virginia Monayar ; Eje 1. Acceso al hábitat y urbanizaciones informales; Asentamientos (in)formales en pequeñas metrópolis del Cono Sur. Estado de situación y debate actual / Ricardo Apaolaza, Elizabeth Zenteno Torres, Marco Sumiza; Un análisis comparativo sobre la expansión de asentamientos populares en las ciudades patagónicas / Santiago Bachiller, Mariana Giaretto, Pablo Marigo, Natalia Usach ; Acceso al Hábitat para los ¨sin techo¨: la lucha por la tierra en la Ciudad de Posadas-Misiones / Myriam Elena Barone, Jonas Dumas, Mariela Dachary, Celia Draganchuk; El mercado informal de suelo y vivienda en resistencia. El caso del asentamiento en "La Rubita" Resistencia, Argentina / María Andrea Benitez, María Victoria Cazorla; Brazos Unidos un realojo en construcción colectiva / Borelli, Lily, Halich, Verónica; Transformaciones en el hábitat de asentamientos informales y políticas públicas sociales. El caso de barrio nuestro hogar III / Renzo Cáceres; Discursividad mediática sobre el acceso y producción del hábitat popular en el barrio Costanera / Debora Leticia Decima; Trayectorias residenciales y usos de la ciudad como clave de lectura de la lucha por el acceso a la ciudad / María Mercedes Di Virgilio, Natalia Cosacov, Denise Brikman, Mercedes Najman; Asentamientos en el borde metropolitano. Avances de investigación, reflexiones y preguntas / Lucas Jordán Dombroski; Repensando el acceso al hábitat en ciudades medias. La problemática habitacional de Tandil / Agustina Girado; Narrativas de un asentamiento de comienzos de siglo: más allá de la épica y la mafia / María Maneiro; Informalidad y periferia urbana. Derivas de la política habitacional / M. Cecilia Marengo, Virginia Monayar, Florencia Sosa; Sobre las ¿nuevas? ocupaciones de tierras. Notas para una periodización de las tomas en San Francisco Solano, 1981-2002 / Santiago Nardin Memorias villeras en disputa sobre las intervenciones estatales de erradicación en Villa 20 (1976-1983) / Julieta Oxman; El Centro para Erradicación de Villas de Emergencia. Planificación, censo y viviendas, Rosario (1964-1983) / Anahí G. Pagnoni; Ensayo de una cartografía de asentamientos informales en la Ciudad de Córdoba / German Gustavo Rebord, Andrea Karina Stiefkens; Urbanización y prácticas estatales en asentamientos populares en Comodoro Rivadavia. El caso del “Barrio las Américas” / Letizia Vázquez; Eje 2: Derecho a la ciudad: conflictos y disputas por el territorio urbano; La ciudad contra el barrio. El caso de los Barrios del Sur en San José de Costa Rica / Pablo Acuña Quiel; Procesos autogestionarios de hábitat popular y políticas urbanas en la ciudad de Ushuaia. Tierra del Fuego. Argentina / Alicia Delia Alcaráz; Conflictos y tensiones en la ocupación del suelo en Posadas. Misiones, Argentina: procesos de diferenciación / Lucia Mariana Andrujovich, Laura Josefa Krujoski,Myriam Elena Barone; Políticas públicas, exclusión y conformación de identidades colectivas / Sandra Raquel Ávalos; La reurbanización del Playón de Chacarita como problema público. Arenas, actores y políticas públicas / Joaquín Benítez; Relocalización, organización y derecho a la ciudad. El caso de Barrio Nuevo (La Plata) / María Sofía Bernat; Resistencias y disputas político-judiciales en casos de desalojos de asentamientos en Buenos Aires / María Cristina Cravino; Análisis de las herramientas territoriales de la organización ArqCom (LP) en el periodo 2012-2018 / Andrea Di Croce Garay, Nahir Meline Cantar, Ángeles Belén Carrizo Romero, Tamara Dileo; Planificación y urbanización del Barrio 31 y 31 bis / Rosana Karina Espejo; Mercado de suelo: tensiones y ambigüedades. El caso de la zona Norte de Resistencia, Chaco, Argentina / Sebastián Galvaliz, María del Rosario Olmedo; Marta Graciela Giró; Experiencias de urbanización y ciudadanización en La Carbonilla. Una propuesta de análisis en escalas / María Belén Garibotti, Luciana Boroccioni, María Florencia Girola ¿Integración? A la trama formal. De complejidades a desafíos / Carolain Izaguirre, Marion Tejera y Carolina Leiva; ¿Urbanizar o aniquilar? Disyuntivas ontológicas en los procesos de urbanización de las sierras de Córdoba / Denise Mattioli; Conflicto y construcción de resistencias en el asentamiento Barrio Flores / Emilia Elisa Molina; Conflictos territoriales y recualificación de la ribera. Los pescadores artesanales y los espacios públicos / Diego Roldán; El Bajo Belgrano: del Barrio de las Latas a la Villa 30 / Valeria Laura Snitcofsky; Líneas de fuga en un barrio de resistencia. Visualización de una lucha / Rafael Ramón Franco Spatuzza; Nuevas legalidades para la reurbanización de villas en CABA. Un desafío para los derechos / Agustín Territoriale, María Julia López; Los Vacíos Urbanos. Dinámicas Urbanas y Respuestas Innovadoras frente al Derecho a la Ciudad / Ezequiel Zeitune, Silvia A Politi, Natalia Czytajlo; Eje 3: Políticas públicas para atender la informalidad y de gestión en el hábitat popular; Tolerancia y precariedad. Advertencias de la política de regularización del Gran Resistencia al RENABAP / Miguel Ángel Barreto, Evelyn Roxana Abildgaard, María Laura Puntel; Adicciones y narcomenudeo, barreras (in) franqueables para los asentamientos informales en Tucumán, Argentina / Paula Boldrini; Políticas de relocalización de villas: ¿qué pasa después? La organización consorcial como práctica comunitaria / María Florencia Bruno, Belén Demoy, Natalia Fainburg, Romina Olejarczyk; La disputa por la participación y la noción de participación en disputa: una reflexión desde el proceso de urbanización de la Villa 31 (2015-2019) / Tomás Capalbo; Economía popular en asentamientos informales del Gran San Miguel de Tucumán / Corina María Cattáneo; La producción de territorialidades en el habitar un asentamiento: procesos de intervención estatal y disociaciones socio espaciales / Magali Chanampa; Estrategias de gestión territorial desde las políticas públicas: replicando el “modelo Medellín” con acento Cordobés / Ana Laura Elorza, Mónica Alvarado Rodríguez, Fani Balcazar, Ernesto Morillo, Mariana Gamboa; Discusiones sobre la conceptualización e identificación de asentamientos informales. Análisis de la realidad en Chubut / María Paula Ferrari, Sergio Andrés Kaminker, Roxana Yanina Velásquez; Barrios autoproducidos en ciudades intermedias. El caso de Río Grande, Tierra del Fuego AIAS / Nadia B. Finck; Luces y sombras del Programa Compra de Vivienda Usada / Elena Inés Gabriel Hernández; Programas de Inclusión Socio-Urbana: ¿Producto de última generación de la Nueva Agenda Urbana? / Fernando Murillo, Gabriel Artese, Andrés Mage; Los dispositivos de espera en las políticas habitacionales / Romina Olejarczyk; Tres debates recurrentes acerca de la vivienda para la población urbana de menores ingresos / Juan Santiago Palero; Nuevos asentamientos precarios: un desafío a la Política Habitacional y Urbana Chilena / Rubén Sepúlveda Ocampo, Felipe Núñez Orrego; Irrumpir con las recetas. Reflexiones en torno a desarrollo, políticas públicas y hábitat popular / Carla Eleonora Pedrazzani, María Inés Sesma.Esta publicación presenta los trabajos del I. Encuentro de la Red de Asentamientos Populares: aportes teórico -metodológicos para la reflexión sobre políticas públicas de acceso al hábitat, desarrollado los días 23 y 24 de mayo de 2019 en la Facultad de Arquitectura, Urbanismo y Diseño de la Universidad Nacional de Córdoba. En las últimas dos décadas, el INVIHAB (Instituto de Investigación de Vivienda y Hábitat) se ha conformado como un espacio de referencia en la investigación, transferencia y formación en temáticas relativas a las políticas de vivienda, territorio, informalidad urbana, ambiente y ciudadanía. Experiencia que ha llevado a la articulación con otros espacios académicos, organizaciones socio-territoriales, gobiernos locales, en el sentido de confluir en la comprensión, reflexión y formulación de propuestas para mitigar las desigualdades socioterritoriales. En este escenario, se viene construyendo una red de investigadores que estudian la informalidad urbana desde diversos enfoques -territoriales, físico-espaciales, sociales, urbanos, laborales, entre otros- tendientes a superar las miradas parciales y locales desde los abordajes teórico metodológicos y propiciar la comprensión del fenómeno desde una perspectiva que abarque la multiplicidad de campos y su complejidad.FIL: Marengo, María Cecilia. Universidad Nacional de Córdoba. Facultad de Arquitectura, Urbanismo y Diseño; Argentina.FIL: Elorza, Ana Laura. Universidad Nacional de Córdoba. Facultad de Arquitectura, Urbanismo y Diseño; Argentina.FIL: Monayar, Virginia. Universidad Nacional de Córdoba. Facultad de Arquitectura, Urbanismo y Diseño; Argentina

Unique pineal gland metastasis of clear cell renal carcinoma: case report and review of the literature.

The metastatic involvement of the pineal gland is an extremely unusual event; it has a 4\% incidence in patients with disseminated neoplasias. Most metastatic pineal lesions are asymptomatic. Only in a small number of cases the symptoms produced by metastatic involvement of this organ precede those of the primary tumor or those of another metastatic site. To our knowledge the herein reported case is the first in which the pineal gland was apparently the unique metastatic site of a primitive kidney carcinoma and where the symptoms produced by metastasis in the pineal region were the first sign of the disease

A case of long surviving metastatic retroperitoneal epithelioid sarcoma in a 20 year old male

This is the case of a 20 year-old male who came to our observation with a neoplastic lesion of the retroperitoneum. At diagnosis it had already spread to the lung, the liver and to the retroperitoneal para aortic lymph nodes. The patient was treated only with chemotherapy, first 4 cycles of PEI schedules and the second option were 3 cycles of EI schedule. After the first treatment the disease showed the enlargement of a liver lesion, in the VII segment and the vascular component of it was increased. This same lesion, after the EI administration, colliquated and didn't modify its size. Since the end of the therapy the patient has been followed up every 3 months for the first 3 years and every 6 months from the third year onward; he is now at 5 years from the last treatment with a stable disease

Análise histoquímica das glândulas anexas do aparelho reprodutor do macho de paca (Cuniculus paca)

RESUMO: A paca (Cuniculus paca) é um roedor típico de regiões tropicais. Com a finalidade de estudar esta espécie selvagem para manejo adequado e sua preservação, objetivou-se neste trabalho caracterizar a histoquímica das glândulas anexas do trato reprodutor do macho da paca. Para este fim, cortes histológicos dessas glândulas foram submetidas às reações histoquímicas com Ácido Periódico de Schiff (PAS), Alcian blue (AB), PAS. + AB. e PAS + Amilase. Na glândula bulbouretral foi constatado que o epitélio produz secreção rica em glicoproteínas neutras e ácidas, glicosaminoglicanas, e em algumas regiões produz mais de um tipo de secreção. Não foi observada a presença de glicogênio no epitélio. Na glândula vesicular, seu epitélio em borda em escova corou-se por glicoproteínas neutras e também por substância de composição desconhecida, não contendo glicoproteínas ácidas, glicogênio ou glicosaminoglicanas. Verificou-se presença de pequena quantidade de glicoproteínas ácidas e neutras na próstata, em especial na mucosa, além de glicoproteínas ácidas carboxiladas e sulfatadas em pequena quantidade no tecido conjuntivo da lâmina própria dessa glândula. Por fim, a glândula coaguladora apresentou pequena quantidade de glicoproteínas neutras na borda em escova de seu epitélio e substância de composição desconhecida, sendo ausente o glicogênio. Conclui-se que as glândulas anexas do trato reprodutor da paca apresentam características histoquímicas que compartilham certa similaridade com outras espécies da ordem Rodentia, com a presença de glicoproteínas neutras e ácidas em algumas glândulas, principalmente no epitélio da glândula bulbouretal e na borda em escova do epitélio das demais glândulas

Práticas educacionais distintas: a psicologia no ensino médio paulista Diverse educational practices: psychology at the state of São Paulo high schools

Este artigo visa discutir, à luz da aprovação do Parecer n. 38/06 do Conselho Nacional de Educação que torna obrigatório o ensino de Filosofia e Sociologia no ensino médio, a pertinência do ensino de Psicologia, em particular no Estado de São Paulo, onde esta disciplina vem progressivamente perdendo espaço. Subsidia o debate, pesquisa de caráter etnográfico, composta por dois estudos de caso realizados em estabelecimentos de ensino, um público e um privado, do município de São Paulo, onde foram acompanhadas aulas de Psicologia mediante observação e analisadas questões relativas ao ensino dessa disciplina. Aspectos característicos de cada escola levaram a refletir sobre as disparidades do sistema educacional paulista, conduzindo à discussão sobre o ensino de Psicologia e sua contribuição, como ciência, nesse cenário.<br>The objective of this article is to discuss, in light of the approval of the Official Opinion number 38/06 by the National Council of Education which made teaching Philosophy and Sociology mandatory in high school, the relevance of teaching Psychology, particularly in the state of São Paulo, where this subject has been increasingly losing space. The debate is grounded in an ethnographic survey consisting of two case studies carried out in teaching institutions, one public and the other private, in the city of São Paulo. Psychology classes were attended, and observation of issues related to teaching it were analyzed. The characteristic aspects of each school has led us to reflect about the inequalities within the São Paulo state education system, and to discuss teaching Psychology and its contribution, as a science, in this setting

A machine-learning parsimonious multivariable predictive model of mortality risk in patients with Covid-19

The COVID-19 pandemic is impressively challenging the healthcare system. Several prognostic models have been validated but few of them are implemented in daily practice. The objective of the study was to validate a machine-learning risk prediction model using easy-to-obtain parameters to help to identify patients with COVID-19 who are at higher risk of death. The training cohort included all patients admitted to Fondazione Policlinico Gemelli with COVID-19 from March 5, 2020, to November 5, 2020. Afterward, the model was tested on all patients admitted to the same hospital with COVID-19 from November 6, 2020, to February 5, 2021. The primary outcome was in-hospital case-fatality risk. The out-of-sample performance of the model was estimated from the training set in terms of Area under the Receiving Operator Curve (AUROC) and classification matrix statistics by averaging the results of fivefold cross validation repeated 3-times and comparing the results with those obtained on the test set. An explanation analysis of the model, based on the SHapley Additive exPlanations (SHAP), is also presented. To assess the subsequent time evolution, the change in paO2/FiO2 (P/F) at 48 h after the baseline measurement was plotted against its baseline value. Among the 921 patients included in the training cohort, 120 died (13%). Variables selected for the model were age, platelet count, SpO2, blood urea nitrogen (BUN), hemoglobin, C-reactive protein, neutrophil count, and sodium. The results of the fivefold cross-validation repeated 3-times gave AUROC of 0.87, and statistics of the classification matrix to the Youden index as follows: sensitivity 0.840, specificity 0.774, negative predictive value 0.971. Then, the model was tested on a new population (n=1463) in which the case-fatality rate was 22.6%. The test model showed AUROC 0.818, sensitivity 0.813, specificity 0.650, negative predictive value 0.922. Considering the first quartile of the predicted risk score (low-risk score group), the case-fatality rate was 1.6%, 17.8% in the second and third quartile (high-risk score group) and 53.5% in the fourth quartile (very high-risk score group). The three risk score groups showed good discrimination for the P/F value at admission, and a positive correlation was found for the low-risk class to P/F at 48 h after admission (adjusted R-squared=0.48). We developed a predictive model of death for people with SARS-CoV-2 infection by including only easy-to-obtain variables (abnormal blood count, BUN, C-reactive protein, sodium and lower SpO2). It demonstrated good accuracy and high power of discrimination. The simplicity of the model makes the risk prediction applicable for patients in the Emergency Department, or during hospitalization. Although it is reasonable to assume that the model is also applicable in not-hospitalized persons, only appropriate studies can assess the accuracy of the model also for persons at home