Results of the 2006 ACHOP protocol on children with acute lymphoblastic leukemia at the HOMI Hospital of Misericordia Foundation in Bogotá in the period 2007 to 2012

Introduction: Acute leukemia is the most common neoplasm in children, accounting for approximately 25% of all tumors in childhood. In Colombia the cure proportion, around 50%, are lower than reported in developed countries. Objective: The main bjective is to determine the global and event-free survival of children with diagnosis of lymphoblastic leukemia, all treated with the ACHOP Protocol 2006, from 2007 to 2012. The secondary objectives are to describe mortality, abandonment, relapse and major complications related to treatment. Material and methods: A descriptive cohort study of 183 patients under 18 years of age, with a confirmed diagnosis of acute lymphoblastic leukemia, who were treated at the Foundation of the Misericordia (HOMI) from 2007 to 2012, was performed. The survival dates were obtained by analysis with Kaplan-Meier curves. Results: We analyzed overall survival at 2, 3 and 5 years with results of 89%, 87.3% and 74.7 % (95% CI 67 - 80.9) respectively. At 5 years survival for the standard risk group was 78.6 % (95 % CI 68.3-85.1) and 61.9 % (95 % CI 50.7-73) for the high risk group. The event-free survival, considering the abandonment and transfer to another institution as an event, was 56.3 % (95% CI 45.5 - 65.8) at 5 years. Mortality in induction was 3.8 %, mortality related to treatment was 3.4 %, 32 patients (17 %) relapsed, bandonment was 16.4 % and transfers 10.4 %. The main complication of the treatment was infections. Conclusions: Overall survival is acceptable for a country with limited resources, the events of abandonment and transfers are very high. Efforts should be made to reduce these situations that worsen the prognosis of the disease

Aves del departamento del Cauca - Colombia

The Cauca department with its biogeographic diversity is one of the most diverse departments in bird species of Colombia. Looking for quantify the richness reported to the date and look at their geographical distribution, we made a information compilation about bird records in the department of Cauca by reviewing publications and ornithological collections in several world museums. We obtained a list of 1,102 species, including 18 endemic spp., 96 north migratory spp. and 41 nationally endangered spp.. This check list is a suitable tool for bird study in Cauca and is a reference to understand different bird topics in southwestern Colombia

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)

Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course

Respuesta de los ensamblajes de anfibios y reptiles a los cambios en la cobertura del suelo, en localidades del departamento del Cesar-Colombia

Se determinó el efecto del cambio en la cobertura del suelo en localidades del departamento del Cesar, a través de la evaluación de la dinámica espacio-temporal de los ensamblajes de ranas, lagartos y serpientes y el análisis de la distribución de los grupos ecológicos de ranas, lagartos y serpientes en el paisaje rural de la cuenca del río Cesar, en la región Caribe de Colombia. Se realizaron cuatro salidas de campo entre diciembre de 2011 y diciembre de 2012, que abarcaron las épocas climáticas del año. Se seleccionaron los elementos del paisaje de pastizal, pastizal con árboles, cultivo de arroz y de palma africana, plantación de eucalipto y remanente de bosque seco tropical. Se registraron 882 individuos, que pertenecen a 13 especies de ranas, 14 especies de lagartos, 12 especies de serpientes. En el remanente de bosque se hallaron seis especies de ranas, 14 de lagartos y ocho de serpientes. En el cultivo de palma africana se registraron 10 especies de ranas, ocho de lagartos y cinco serpientes. En la plantación de eucalipto se hallaron cinco especies de ranas, cuatro de lagartos y una serpiente. En el pastizal arbolado se encontraron cuatro especies de ranas y cinco de lagartos. En el cultivo de arroz se registraron ocho especies de ranas y un lagarto. En el pastizal se encontró una especie de rana, siete especies de lagartos y una serpiente. La estructura y la composición de los ensamblajes de ranas, lagartos y serpientes presentaron diferencias estadísticamente significativas entre todos los elementos del paisaje. Las ranas fueron el grupo con marcadas diferencias en la riqueza de especies. Las diferencias en la composición y la estructura de los ensamblajes de ranas, lagartos y serpientes, estuvieron estrechamente relacionadas con las condiciones ambientales y de calidad de los elementos del paisaje, factores determinantes para suplir los requerimientos fisiológicos de las especies. Las ranas, los lagartos y las serpientes se clasificaron en nueve grupos ecológicos cada uno, El grupo de ranas NoArM1Gra (Nocturnas, Arboricolas, modo reproductivo 1 y Grandes) y NoTeM2Me (Nocturnas, Terrestres, modo reproductivo 2 y Medianas) fueron los mejor representado en los elementos del paisaje, de lagartos fue OviDiHePeTe (Ovíparos, Diurnos, Heliotérmicos, Peqqueños y Terrestres) y de serpientes fue OviNoTiAcMeSar (Ovíparas, Nocturnas, Tigmotérmicas, de forrajeo Activo, Medianas y Semiarborícolas). Se hallaron diferencias significativas en la distribución de los grupos ecológicos de ranas, lagartos y serpientes entre los elementos del paisaje. La riqueza hallada en este estudio correspondió al 68% de las ranas, al 51% de los reptiles. Los ensamblajes de ranas, lagartos y serpientes, exhiben características generalistas en cuanto al uso de recursos y rasgos de historia de vida, como las tácticas de termorregulación, los tiempos de actividad, los amplios espectros alimentarios, que les permite amoldarse a las fluctuaciones ambientales del paisaje rural. La respuesta de los grupos ecológicos de ranas, lagartos y serpientes, en los elementos del paisaje rural estuvo asociado con la capacidad que tienen las especies para aprovechar de los recursos y en la capacidad de hacer frente a las condiciones ambientales y de la estructura de la vegetación de cada elemento del paisaje.Abstract. The effect of the change was determined in soil cover in towns in the department Cesar, through the evaluation of the spatiotemporal dynamics of assemblies of frogs, lizards and snakes and analysis of the distribution of ecological groups of frogs, lizards and snakes in the rural landscape of the Cesar river basin, in the Caribbean region of Colombia. Are They held four field trips between December 2011 and December 2012, covering the climatic seasons. Landscape features grassland, pasture were selected trees, rice and palm oil, eucalyptus plantation and remnants of dry forest tropical. 882 individuals belonging to 13 species of frogs, 14 species were recorded lizards, 12 species of snakes. In the remaining six species of forest frogs they were found, 14 snakes and eight lizards. In the cultivation of oil palm they registered 10 species of frogs, lizards eight five snakes. In planting eucalyptus five species were found frogs, lizards and four of a snake. In the wooded pasture four species they found five frogs and lizards. In the rice eight species of frogs were recorded and lizard. In the pasture a kind of frog, seven species of lizards and a snake was found.Maestrí

Uso de hábitat y reglas de ensamblaje : patrones y mecanismos

En bs-T la alta tasa histórica de transformación de hábitat, ha cambiado la configuración del paisaje, dejando un mosaico de coberturas naturales inmersas en una matriz de coberturas antropogénicas. Estos paisajes antropizados presentan condiciones altamente variables de temperatura, precipitación y estructura vegetal, imponiendo filtros ambientales que moldean los patrones observados de diversidad en anfibios y reptiles. En el caso de los anfibios, actualmente predominan especies generalistas de tamaño corporal grande, que si bien, tienen una alta dependencia de los cuerpos de agua, no son específicas en la elección de otros recursos (alimentarios y de hábitat o microhábitat).  Para el caso de los reptiles, los taxa que colonizan y se establecen en los nuevos hábitats, pertenecen en su mayoría a familias de serpientes y lagartos heliotermos, semiarbóreos o terrestres. De esta manera, la diversidad y el uso de recursos, ya sea alimentarios o de hábitat, están moldeados por filtros ambientales que se pueden evidenciar a diferentes escalas espacio-temporales. A partir de la revisión presentada en este capítulo, se plantean desafíos y preguntas de investigación que, esperamos, guíen la elaboración de futuros estudios con los ensamblajes de anfibios y reptiles que habitan el bs-T.  En particular, es necesario en- tender en detalle la relación entre rasgos Funcionales de la herpetofauna con su desempeño reproductivo, sobrevivencia, dispersión, así como en su respuesta ante filtros ambientales y su papel en procesos ecosistémicos. Es de esperar que cambios en la cobertura, uso y manejo de la tierra, homogenicen los ensamblajes de anfibios y reptiles en su estructura y composición, así como en los patrones de diversidad funcional y filogenética

Identification of proteins associated with amyloidosis by polarity index method

There is a natural protein form, insoluble and resistant to proteolysis, adopted by many proteins independently of their amino acid sequences via specific misfolding-aggregation process. This dynamic process occurs in parallel with or as an alternative to physiologic folding, generating toxic protein aggregates that are deposited and accumulated in various organs and tissues. These proteinaceous deposits typically represent bundles of β-sheet-enriched fibrillar species known as the amyloid fibrils that are responsible for serious pathological conditions, including but not limited to neurodegenerative diseases, grouped under the term amyloidoses. The proteins that might adopt this fibrillar conformation are some globular proteins and natively unfolded (or intrinsically disordered) proteins. Our work shows that intrinsically disordered and intrinsically ordered proteins can be reliably identified, discriminated, and differentiated by analyzing their polarity profiles generated using a computational tool known as the polarity index method (Polanco & Samaniego, 2009; Polanco et al., 2012; 2013; 2013a; 2014; 2014a; 2014b; 2014c; 2014d). We also show that proteins expressed in neurons can be differentiated from proteins in these two groups based on their polarity profiles, and also that this computational tool can be used to identify proteins associated with amyloidoses. The efficiency of the proposed method is high (i.e. 70%) as evidenced by the analysis of peptides and proteins in the APD2 database (2012), AVPpred database (2013), and CPPsite database (2013), the set of selective antibacterial peptides from del Rio et al. (2001), the sets of natively unfolded and natively folded proteins from Oldfield et al. (2005), the set of human revised proteins expressed in neurons, and non-human revised proteins expressed in neurons, from the Uniprot database (2014), and also the set of amyloidogenic proteins from the AmyPDB database (2014)

Avifauna de Popayán y municipios aledaños

During the last four years, it has been carried out a characterization of the birds of Popayán (Cauca) and five bordering municipalities. The observations were made at the “Formación Popayán” in 26 localities; nine of which, were sampled constantly between 2001 and 2005 in the activities of national counts in Colombia. Simultaneously, the records were supplemented by the review of the ornithology´s collection of the Museo de Historia Natural of the Universidad del Cauca. These activities allowed to generate a complete list of the current birds in a range of 1600-2800 m, finding 338 bird species of birds gather in 55 families, being this an important achieve in the knowledge of the local avifauna and generating a basic tool for the people who is interested in this fauna group and for the future conservation processes in the study area. Keywords: birds, Popayán, Formación Popayán, Cauca, Colombia.Durante los últimos cuatro años se adelantó un estudio de caracterización de la avifauna de Popayán (Cauca) y cinco municipios aledaños. Las observaciones se realizaron en 26 localidades de la Formación Popayán (Torres 1997), nueve de las cuales han sido monitoreadas entre 2001 y 2005 en las actividades de Conteos Nacionales liderados por la Red Nacional de Observadores de Aves de Colombia (RNOA). La información fue recopilada por observación de campo y revisión de la Colección de Ornitología del Museo de Historia Natural de la Universidad del Cauca. A la fecha, el estudio ha generado un listado de 338 especies de aves agrupadas en 55 familias, distribuidas entre los 1600-2800 msnm.Palabras clave: Aves, Popayán, Formación Popayán, Cauca, Colombi

Aves del departamento del Cauca - Colombia

El Cauca con su diversidad biogeográfica es uno de los departamentos más diversos en especies de aves en Colombia. En busca de cuantificar la riqueza reportada hasta ahora y observar su distribución geográfica, realizamos una compilación de información existente sobre registros de especies de aves en el departamento del Cauca mediante la revisión de publicaciones y colecciones ornitológicas en diferentes museos del mundo. Se obtuvo un listado de 1,102 especies, que incluye 18 spp. endémicas, 96 spp. migratorias boreales y 41 spp. consideradas en peligro de extinción a nivel nacional. Este listado constituye una herramienta adecuada para el estudio de las aves en el Cauca y es un referente para entender diferentes aspectos de la avifauna en el suroccidente colombiano.Artículo revisado por pare

Mitochondria and Mitochondrial DNA: Key Elements in the Pathogenesis and Exacerbation of the Inflammatory State Caused by COVID-19

Background and Objectives. The importance of mitochondria in inflammatory pathologies, besides providing energy, is associated with the release of mitochondrial damage products, such as mitochondrial DNA (mt-DNA), which may perpetuate inflammation. In this review, we aimed to show the importance of mitochondria, as organelles that produce energy and intervene in multiple pathologies, focusing mainly in COVID-19 and using multiple molecular mechanisms that allow for the replication and maintenance of the viral genome, leading to the exacerbation and spread of the inflammatory response. The evidence suggests that mitochondria are implicated in the replication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which forms double-membrane vesicles and evades detection by the cell defense system. These mitochondrion-hijacking vesicles damage the integrity of the mitochondrion’s membrane, releasing mt-DNA into circulation and triggering the activation of innate immunity, which may contribute to an exacerbation of the pro-inflammatory state. Conclusions. While mitochondrial dysfunction in COVID-19 continues to be studied, the use of mt-DNA as an indicator of prognosis and severity is a potential area yet to be explored