The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

BACKGROUND: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. OBJECTIVES: To perform the largest PD genome-wide association study restricted to a single country. METHODS: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. RESULTS: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. CONCLUSIONS: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society.

Predator avoidance during reproduction: diel movements by spawning sockeye salmon between stream and lake habitats.

Daily movements of mobile organisms between habitats in response to changing trade-offs between predation risk and foraging gains are well established; however, less in known about whether similar tactics are used during reproduction, a time period when many organisms are particularly vulnerable to predators. We investigated the reproductive behaviour of adult sockeye salmon (Oncorhynchus nerka) and the activity of their principal predator, brown bears (Ursus arctos), on streams in south-western Alaska. Specifically, we continuously monitored movements of salmon between lake habitat, where salmon are invulnerable to bears, and three small streams, where salmon spawn and are highly vulnerable to bears. We conducted our study across 2 years that offered a distinct contrast in bear activity and predation rates. Diel movements by adult sockeye salmon between stream and lake habitat were observed in 51.3% ± 17.7% (mean ± SD) of individuals among years and sites. Fish that moved tended to hold in the lake for most of the day and then migrated into spawning streams during the night, coincident with when bear activity on streams tended to be lowest. Additionally, cyclic movements between lakes and spawning streams were concentrated earlier in the spawning season. Individuals that exhibited diel movements had longer average reproductive life spans than those who made only one directed movement into a stream. However, the relative effect was dependent on the timing of bear predation, which varied between years. When predation pressure primarily occurred early in the spawning run (i.e., during the height of the diel movements), movers lived 120-310% longer than non-movers. If predation pressure was concentrated later in the spawning run (i.e. when most movements had ceased), movers only lived 10-60% longer. Our results suggest a dynamic trade-off in reproductive strategies of sockeye salmon; adults must be in the stream to reproduce, but must also avoid predation long enough to spawn. Given the interannual variation in the timing and intensity of predation pressure, the advantages of a particular movement strategy will likely vary among years. Regardless, movements by salmon allowed individuals to exploit fine-scale habitat heterogeneity during reproduction, which appears to be a strategy to reduce predation risk on the spawning grounds.

Draft whole genome sequence of the cyanide-degrading bacterium Pseudomonas pseudoalcaligenes CECT5344.

Pseudomonas pseudoalcaligenes CECT5344 is a Gram-negative bacterium able to tolerate cyanide and to use it as the sole nitrogen source. We report here the first draft of the whole genome sequence of a P. pseudoalcaligenes strain that assimilates cyanide. Three aspects are specially emphasized in this manuscript. First, some generalities of the genome are shown and discussed in the context of other Pseudomonadaceae genomes, including genome size, G + C content, core genome and singletons among other features. Second, the genome is analysed in the context of cyanide metabolism, describing genes probably involved in cyanide assimilation, like those encoding nitrilases, and genes related to cyanide resistance, like the cio genes encoding the cyanide insensitive oxidases. Finally, the presence of genes probably involved in other processes with a great biotechnological potential like production of bioplastics and biodegradation of pollutants also is discussed.

Characterization on the impact of different clarifiers on the white wine colloids using Asymmetrical Flow Field-Flow Fractionation.

Clarifiers are substances used during the winemaking process to enhance clarity and stability in the wines. The different clarifiers may alter removal capacities differently. In this study, the removal efficiency of seven common fining agents, divided into three groups (mineral clarifiers, synthetic polymeric clarifiers, and vegetable protein clarifiers), was analyzed with Asymmetrical Flow Field-Flow fractionation (AF4). Besides, the relationship between the removal capacity and different molecular and macromolecular properties has been evaluated. The results showed extensive removal of colloidal and macromolecular matter by the bentonites with potential impact on characteristic properties of the wine. The vegetable clarifiers showed a more profiled reduction, potentially preserving characteristics of the wine. The synthetic polymers showed a more limited removal efficiency but with a high affinity to remove colloidal phenols. The use of AF4-UV-MALS-dRI allowed the characterization of the wines after different clarification treatments, showing to be an analytical technique with a potential impact on the wine industry.

Seroprevalence and risk factors of bovine leptospirosis in the province of Manabí, Ecuador.

Leptospirosis is a zoonotic disease with worldwide distribution. The disease affects dairy and beef cattle, causing infertility, abortion, and reduced milk yield. A cross-sectional study was conducted to determine the seroprevalence of leptospirosis in cattle and the associated risk factors in the province of Manabí, Ecuador. Serum samples from 749 animals from 55 cattle herds were analyzed using the microscopic agglutination test (MAT). Animals were considered positive when titers were ≥ 1:100. The association between the potential risk factors and the positive Leptospira result was modeled at both animal and herd level using a generalized linear model with a binomial distribution and logarithmic link. The seroprevalence was 56.21% at the individual level and 98.18% at the herd level. The most prevalent serovars were Pomona (28.57%) and Icterohaemorragiae (22.30%). At the animal level, only the age was associated with leptospirosis seropositivity. Seroprevalence in animals over three years of age was 1.197 (95% confidence intervals (CI), 1.032 - 1.390), higher compared to animals up to three years old. The seroprevalence of Leptospira spp. was higher in farms with no veterinary assistance (PR = 1.209; 95%CI 1.053 - 1.388) and without a vaccination program against Leptospira (PR = 1.399; 95%CI 1.09 - 1.794). In addition, herds from Junín canton had a significantly higher seroprevalence of Leptospira spp (PR = 1.548; 95%CI 1.213 - 1.977) compared to the Bolívar canton, which had the lowest seroprevalence. In conclusion, more than half of the animals were positive to Leptospiraspp, and almost all herds had at least one positive animal. Furthermore, veterinary assistance and vaccination of cattle must be considered as essential aspects of the disease control program.

Fractionation of Nanoparticle Matter in Red Wines Using Asymmetrical Flow Field-Flow Fractionation.

The particle matter of wine is mainly composed of wine colloids and macromolecules. The present work develops a methodology using asymmetrical flow field-flow fractionation coupled with multi-angle light scattering, differential refractive index detector, and ultraviolet detector (AsFlFFF-MALS-dRI-UV) for the fractionation and determination of the molar mass, the hydrodynamic radius, and the apparent densities of the aggregates and macromolecules present in wine samples. The results from a set of six Argentinian high-altitude wines showed two main populations: the first population composed of wine colloids with higher UV-specific absorptivity and the second population composed of polysaccharides, such as arabinogalactans. The conformation results showed that population 1 consists of small and dense particles, while population 2 showed high molar masses and lower densities. The results demonstrated the use of AsFlFFF as a new, effective method for the fractionation and characterization of wine colloids and wine macromolecules in red wines with further potential applications.

A Case of Adaptive Laboratory Evolution (ALE): Biodegradation of Furfural by Pseudomonas pseudoalcaligenes CECT 5344.

Pseudomonas pseudoalcaligenes CECT 5344 is a bacterium able to assimilate cyanide as a nitrogen source at alkaline pH. Genome sequencing of this strain allowed the detection of genes related to the utilization of furfurals as a carbon and energy source. Furfural and 5-(hydroxymethyl) furfural (HMF) are byproducts of sugars production during the hydrolysis of lignocellulosic biomass. Since they inhibit the yeast fermentation to obtain bioethanol from sugars, the biodegradation of these compounds has attracted certain scientific interest. P. pseudoalcaligenes was able to use furfuryl alcohol, furfural and furoic acid as carbon sources, but after a lag period of several days. Once adapted, the evolved strain (R1D) did not show any more prolonged lag phases. The transcriptomic analysis (RNA-seq) of R1D revealed a non-conservative punctual mutation (L261R) in BN5_2307, a member of the AraC family of activators, modifying the charge of the HTH region of the protein. The inactivation of the mutated gene in the evolved strain by double recombination reverted to the original phenotype. Although the bacterium did not assimilate HMF, it transformed it into value-added building blocks for the chemical industry. These results could be used to improve the production of cost-effective second-generation biofuels from agricultural wastes.

Variabilidad de comunidades de macroinvertebrados acuáticos en charcas temporales del norte de Colombia

Introducción: Las charcas temporales son ecosistemas acuáticos variables en su estructura física y biótica, efímeros en el paisaje e importantes en el flujo de materia y energía. Los macroinvertebrados acuáticos constituyen el grupo más abundante y diverso en estos ecosistemas y requieren mayor estudio, particularmente en los trópicos. Objetivo: Evaluar la diversidad alfa y beta de las comunidades de macroinvertebrados acuáticos de seis charcas temporales durante dos épocas climáticas en el norte de Colombia. Métodos: En Magdalena, Colombia, hicimos seis arrastres aleatorios con redes manuales en la zona litoral, y seis arrastres en zigzag con redes tipo D en la zona lacustre; recolectamos macrofauna en tres lances con una draga Ekman; y muestreamos cada charca durante la alta precipitación (noviembre, 2020) y la baja precipitación (febrero, 2021). Resultados: Identificamos 3 358 individuos (13 órdenes, 39 familias y 68 géneros). La mayor abundancia y diversidad (N= 485, 0D= 32) durante la época de lluvia se presentó en Los Campanos, mientras que la charca Villa Leidy tuvo el mayor número de taxones comunes (18) y dominantes (14). En la época de sequía, la charca Los Trillizos presentó la mayor abundancia (533) y diversidad (43); mientras que Villa Leidy y El Miquito el mayor número de taxones dominantes (16). Las charcas tienen composiciones particulares (sin agrupamientos espaciales o temporales); el recambio de taxones es alto, y la correspondencia canónica se agrupa por temporada. Conclusiones: la composición de las comunidades de macroinvertebrados acuáticos de las charcas temporales son muy diversas, presentando alto recambio tanto espacial como temporal, reflejando altos valores de remplazo de taxones entre épocas climáticas. La zona litoral mantuvo una composición similar durante las dos temporadas.

Introduction: Temporary ponds are variable aquatic ecosystems in their physical and biotic structure, ephemeral in the landscape and important in the flow of matter and energy. Aquatic macroinvertebrates constitute the most abundant and diverse group in these ecosystems and need further study, particularly in the tropics. Objective: To evaluate the alpha and beta diversity of the aquatic macroinvertebrate communities of six temporary pools during two climatic seasons in Northern Colombia. Methods: In Magdalena, Colombia, we did six random trawls with hand nets in the coastal zone, and six zig zag trawls with D nets in the lacustrine zone; we collected macrofauna in three random hauls with an Ekman dredge; and sampled each pond in high rainfall (November 2020) and low rainfall (February 2021). Results: We identified 3 358 individuals (13 orders, 39 families and 68 genera). The highest rainy season abundance and diversity (N= 485, 0D= 32) were in Los Campanos, while Villa Leidy Pond had the highest number of common (18) and dominant (14) taxa. During the dry season, Los Trillizos Pond had the highest abundance (533) and diversity (43); while Villa Leidy and El Miquito had the largest number of dominant taxa (16). The pools have a particular composition (no spatial or temporal grouping); taxa turnover is high, and the canonical correspondence clustered by season. Conclusions: The aquatic macroinvertebrate communities of the temporary ponds are diverse and have high turnover in space and time, reflecting high replacement of taxa between climatic periods. The littoral zone had a similar composition in the two seasons.

New records of Harpacticoids (Crustacea, Copepoda) from a coastal system of northern Colombia

Three species of harpacticoids are herein recorded from the zooplankton of Rodadero beach, Santa Marta, Magdalena, Colombia. Samples were collected from the littoral zone, mainly at inshore areas covered by mangrove vegetation and in an adjacent oyster bank. One of them, Laophonte cornuta Philippi, 1840 is new to the Colombian harpacticoid fauna, the other two species: Distioculus minor (Scott T., 1894) and Microsetella norvegica (Boeck, 1865) are new reports to the Magdalena department. This is the first illustrated record confirming their presence in Colombia and Magdalena, northern Colombia. Comparative morphological comments and illustrations of these species are also provided to document this report.

Se registran tres especies de harpacticoides en el zooplancton de playa Rodadero, Santa Marta, Magdalena, norte de Colombia. Se recolectaron muestras en la zona litoral, principalmente en áreas costeras de manglar y en un banco de ostras. Una de ellas, Laophonte cornuta Philippi, 1840 es nueva para la fauna de harpacticoides de Colombia; las otras dos especies: Distioculus minor (Scott T., 1894) y Microsetella norvegica (Boeck 1865) son nuevos reportes para el departamento del Magdalena. Este es el primer registro ilustrado que confirma su presencia en Colombia y Magdalena. Se proporcionan comentarios morfológicos comparativos e ilustraciones de estas especies.

First record of the Clam Shrimp Leptestheria venezuelica Daday, 1923 (Crustacea: Brachiopoda: Spinicaudata) from the North of Colombia / Primer registro del Camarón Almeja Leptestheria venezuelica Daday, 1923 (Crustacea: Brachiopoda: Spinicaudata) del Norte de Colombia

Abstract Large branchiopods has been distributed in temporary waters around the world, but the knowledge about these organisms in Colombia is poorly known, especially leptesteriids, we report a new record of the Clam Shrimp Leptestheria venezuelica Daday, 1923 from the north of Colombia.

Resumen Los grandes branquiopodos se encuentran distribuidos en aguas temporales de todo el mundo, pero el conocimiento de estos en Colombia es poco sobre todo de los leptesteridos, en este trabajo presentamos un nuevo reporte del camaron almeja Leptestheria venezuelica Daday, 1923 para el norte de Colombia.

Reconstruction with non-vascularized fibular autograft after resection of clavicular benign tumor.

Chondroblastoma is a rare, benign cartilaginous neoplasm that accounts for approximately 1% of all bone tumors, and approximately 4% of all chondroblastomas arise in the clavicle. Here, we report a case of chondroblastoma in the right clavicle. 27-year-old female patient presented with a 12-month history of shoulder pain. Based on radiological and pathological examination, the diagnosis was compatible with chondroblastoma. After resection of the tumor, 1 cm of the distal clavicle was preserved, 15 cm of the non-vascularized fibula was taken from the contralateral leg and placed on the site of the clavicle and fixed with hook plate at distal clavicle and reconstruction plate attached to the sternum. 13 months of follow-up is scheduled for removal of osteosynthesis material, finding full consolidation of sternoclavicular segment and the distal segment. A good functional outcome was apparent after a limited 14-month follow-up, and the patient was highly satisfied with the result. We found no recurrence or metastasis.

Caracterización de una charca estacional del norte de Colombia y aspectos biológicos y ecológicos de Dendrocephalus affinis

El objetivo de este trabajo fue evaluar el cuerpo de agua y los sedimentos de una charca estacional, además de describir el ciclo de vida y proporciones de sexo de Dendrocephalus affinis en condiciones de laboratorio. La charca se muestreó desde 2010 hasta 2012, la cual se caracterizó la fisicoquímica del agua y la granulometría y metales pesados del sedimento. Simultáneamente se tomaron muestras de sedimento para recolectar los quistes usados para la descripción del ciclo de vida, la supervivencia y proporción de sexo de D. affinis en laboratorio. La charca mostró condiciones mesotróficas en época de lluvia y mayor carga orgánica en época seca. El suelo dominante fue lodoso, lo cual facilitó la retención de agua. Los metales pesados mostraron concentraciones dentro del rango habitual en estos ambientes. Los macroinvertebrados asociados estuvieron conformados por representantes de siete órdenes y 28 géneros, de los cuales los órdenes Hemiptera y Coleoptera fueron los más abundantes con el 39.7 y 31.8 % respectivamente. El ensayo de laboratorio mostró que los nauplios de D. affinis vivieron 30 días, y tuvieron una supervivencia del 31.6 %. Este trabajo también contribuyó con una descripción una charca estacional del ciclo de vida de D. affinis en condiciones de laboratorio. Dendrocephalus affinis mostró ser un organismo con corto ciclo de vida, de crecimiento rápido y alta tasa de supervivencia, lo cual favorece su uso como potencial alimento vivo en la acuicultura.

The aim of this work was to evaluate the water system and the sediments of a temporary pond, in addition to describe the life cycle and asses sex proportions of D. affinis in laboratory conditions. The pond was sampled during the years 2010 - 2012, the physicochemical of the water, granulometry and heavy metals of the sediment were also evaluated. Simultaneously, we took samples of the sediment to collect the cysts that were used to describe the life cycle, survival and sex proportions at laboratory. During the rainy season, the pond showed mesotrophic conditions and in the dry season high organic load. The muddy soil was dominant and allowed the water retention. The heavy metals values were found in the normal ranges of similar systems. The macroinvertebrates associated to the pond were formed by seven orders and 28 genera, which Hemiptera and Coleoptera orders were the most abundant with 39.7 and 31.8 % respectively. Laboratory essays showed that nauplus of D. affinis lived 30 days and had a survival of 31.6%. This work also contributed with a description of a temporary pond and of the life cycle of D. affinis in laboratory conditions. Dendrocephalus affinis showed be organisms with short life cycle, fast grown and high survival ratio, this favor its use as live food potential in the aquaculture.

Complete genome sequence of the cyanide-degrading bacterium Pseudomonas pseudoalcaligenes CECT5344.

Pseudomonas pseudoalcaligenes CECT5344, a Gram-negative bacterium isolated from the Guadalquir River (Córdoba, Spain), is able to utilize different cyano-derivatives. Here, the complete genome sequence of P. pseudoalcaligenes CECT5344 harboring a 4,686,340bp circular chromosome encoding 4513 genes and featuring a GC-content of 62.34% is reported. Necessarily, remaining gaps in the genome had to be closed by assembly of few long reads obtained from PacBio single molecule real-time sequencing. Here, the first complete genome sequence for the species P. pseudoalcaligenes is presented.

Investigación de portadores de Neisseria Meningitidis en niños relacionados con el Centro de Rehabilitación Social del Litoral / Investigation of carriers of Neisseria Meningitidis in children related with the Social Rehabilitation Center of the seaboard

Se practicaron cultivos para N. meningitidis en 118 niños entre 1 y 14 años que viven en la guardería del CRL (31 niños), en el albergue María Reyna (50) y en el pabellón de varones del CRL (37), tratando de identificar la fuente de infección del brote epidémico de EMA ocurrido 2 meses atrás en este centro penitenciario.Se tomó una muestra de cada fosa nasal y se procesaron los 236 cultivos. No se aisló ninguna colonia de N. meningitidis.Entre las conclusiones se destaca que estos niños no son fuentes de infección ni de contaminación así como tampoco representa un potencial elemento diseminador de la bacteria en la comunidad.

Several cultures heading to the isolation of Neisseria meningitidis were performed to 118 children between the ages of 1 to 14 years old, living in the foster home for the “CRL” (31 children), Maria Reyna temporary home (50) and the men’s block (37), with the purpose of identifying the source of infection for the outbreak that took place 2 months ago in this facility.One sample for each nostril was taken and 236 cultures were processed. No single strain of N. meningitidis was isolated.Among the conclusions of this trial is obvious that these children are not neither the source of infection nor contamination as well as they do not represent a spreading risk for N. meningitidis in community.