Management of Natural History collections: criteria and parameters of evaluation

[ES] Las colecciones de historia natural son una herramienta básica para la investigación científica y el estudio de la distribución en el pasado de muchas especies, así como de la propia historia de la ciencia. Además del uso científico de estas colecciones, destacan otros como el histórico, el divulgativo-pedagógico y el estético. De ahí la importancia que tiene una gestión eficaz de las mismas, la cual implica diversos aspectos, que van desde la conservación y su mantenimiento, su inventario, ordenación y procesamiento informático hasta las múltiples tareas relacionadas con su uso en consultas, visitas, préstamos científicos y participación en actividades de carácter divulgativo. En este artículo se examinan los criterios para evaluar la gestión de las colecciones de historia natural y se definen una serie de parámetros, útiles para medir el estado de una colección y su evolución en el tiempo, tanto en su crecimiento como en su uso, principalmente. Se ejemplifica todo ello en el grupo de los poliquetos, del que el Museo Nacional de Ciencias Naturales de Madrid (MNCN) cuenta con una estimable colección, y se comparan los resultados, según varios parámetros seleccionados, con los de otras colecciones de poliquetos de diversas instituciones de todo el mundo.[EN] Natural History collections are a basic and essential tool for scientific research, the study of the distribution in the past of many species of animals and plants and the History of Science. As well as the scientific aspect of these collections, stand outs other uses as the historic one, the educational and the aesthetic. All these are reasons that show the importance of an effective management of the Natural History collections as well as the several tasks related to it, as consults, visits, scientific loans and educational activities. In this article various criteria and useful parameters are provided for evaluating the curatorial state of a Natural History collection and its evolution, both in growth and use mainly. Finally, an example based on the Polychaeta, an estimable group in the Invertebrates Collection of the Museo Nacional de Ciencias Naturales of Madrid (MNCN), is provided. The results of several selected parameters are compared with other Polychaeta collections from several institutions around the world.Peer reviewe

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

Objectives Genome-wide meta-analyses of clinically defined gout were performed to identify subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these loci was also conducted to investigate genetic risks characteristic of the Japanese population over the last 2000–3000 years. Methods Two genome-wide association studies (GWASs) of 3053 clinically defined gout cases and 4554 controls from Japanese males were performed using the Japonica Array and Illumina Array platforms. About 7.2 million single-nucleotide polymorphisms were meta-analysed after imputation. Patients were then divided into four clinical subtypes (the renal underexcretion type, renal overload type, combined type and normal type), and meta-analyses were conducted in the same manner. Selection pressure analyses using singleton density score were also performed on each subtype. Results In addition to the eight loci we reported previously, two novel loci, PIBF1 and ACSM2B, were identified at a genome-wide significance level (p<5.0×10–8) from a GWAS meta-analysis of all gout patients, and other two novel intergenic loci, CD2-PTGFRN and SLC28A3-NTRK2, from normal type gout patients. Subtype-dependent patterns of Manhattan plots were observed with subtype GWASs of gout patients, indicating that these subtype-specific loci suggest differences in pathophysiology along patients’ gout subtypes. Selection pressure analysis revealed significant enrichment of selection pressure on ABCG2 in addition to ALDH2 loci for all subtypes except for normal type gout. Conclusions Our findings on subtype GWAS meta-analyses and selection pressure analysis of gout will assist elucidation of the subtype-dependent molecular targets and evolutionary involvement among genotype, phenotype and subtype-specific tailor-made medicine/prevention of gout and hyperuricaemia

A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple organ damage. Although recent genome-wide association studies (GWAS) have contributed to discovery of SLE susceptibility genes, few studies has been performed in Asian populations. Here, we report a GWAS for SLE examining 891 SLE cases and 3,384 controls and multi-stage replication studies examining 1,387 SLE cases and 28,564 controls in Japanese subjects. Considering that expression quantitative trait loci (eQTLs) have been implicated in genetic risks for autoimmune diseases, we integrated an eQTL study into the results of the GWAS. We observed enrichments of cis-eQTL positive loci among the known SLE susceptibility loci (30.8%) compared to the genome-wide SNPs (6.9%). In addition, we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with SLE susceptibility (rs340630; P = 8.3×10−9, odds ratio = 1.21). The risk A allele of rs340630 demonstrated a cis-eQTL effect on the AFF1 transcript with enhanced expression levels (P<0.05). As AFF1 transcripts were prominently expressed in CD4+ and CD19+ peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Novel haemodialysis (HD) treatment employing molecular hydrogen (H2)-enriched dialysis solution improves prognosis of chronic dialysis patients: A prospective observational study

Abstract Recent studies have revealed unique biological characteristics of molecular hydrogen (H2) as an anti-inflammatory agent. We developed a novel haemodialysis (E-HD) system delivering an H2 (30–80 ppb)-enriched dialysis solution by water electrolysis, and conducted a non-randomized, non-blinded, prospective observational study exploring its clinical impact. Prevalent chronic HD patients were allocated to either the E-HD (n = 161) group or the conventional HD (C-HD: n = 148) group, and received the respective HD treatments during the study. The primary endpoint was a composite of all-cause mortality and development of non-lethal cardio-cerebrovascular events (cardiac disease, apoplexy, and leg amputation due to peripheral artery disease). During the 3.28-year mean observation period, there were no differences in dialysis parameters between the two groups; however, post-dialysis hypertension was ameliorated with significant reductions in antihypertensive agents in the E-HD patients. There were 91 events (50 in the C-HD group and 41 in the E-HD group). Multivariate analysis of the Cox proportional hazards model revealed E-HD as an independent significant factor for the primary endpoint (hazard ratio 0.59; [95% confidence interval: 0.38–0.92]) after adjusting for confounding factors (age, cardiovascular disease history, serum albumin, and C-reactive protein). HD applying an H2-dissolved HD solution could improve the prognosis of chronic HD patients

手術支援ロボットゼウスを用いた腹腔鏡下根治的前立腺摘除術の一例

A 68-year-old man with prostate cancer, T1cN0M0, was treated with laparoscopic radical prostatectomy (LRP) assisted by the ZEUS robotic system. The ZEUS system was utilized only for vesico-urethral anastomosis, one of the most difficult procedures to perform during LRP. We could complete the vesico-urethral anastomosis using the ZEUS system for 100 min without any intraoperative complications. The urethral catheter was removed 7 days after operation. To our knowledge, this is the initial case of robot-assisted radical prostatectomy using the ZEUS system.前立腺癌で臨床病期TlcNOMOの68歳男性患者に対して手術支援ロボットゼウスを用いた腹腔鏡下根治的前立腺摘除術を施行した.我々は腹腔鏡下根治的前立腺摘除術の最も困難な手技の一つである膀胱尿道吻合に対してのみゼウスシステムを用いた.ゼウスを用いた膀胱尿道吻合には100分を要したが,術中合併症は認められなった.尿道留置カテーテルは術後7日目に抜去することができた.我々が調べ得た限りで,本症例は手術支援ロボットゼウスを用いた腹腔鏡下根治的前立腺摘除術の最初の報告である