The past, present, and future of the Brain Imaging Data Structure (BIDS)

The Brain Imaging Data Structure (BIDS) is a community-driven standard for the organization of data and metadata from a growing range of neuroscience modalities. This paper is meant as a history of how the standard has developed and grown over time. We outline the principles behind the project, the mechanisms by which it has been extended, and some of the challenges being addressed as it evolves. We also discuss the lessons learned through the project, with the aim of enabling researchers in other domains to learn from the success of BIDS

Brazilian cave heritage under siege

info:eu-repo/semantics/publishe

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

¿Qué método es más apropiado para las estimaciones de diversidad de invertebrados en la hojarasca de bosques Riparios (Chaco, Argentina)?

El objetivo de este estudio fue evaluar la eficacia de los e1nbudosTullgren-Berlese, los extractores Winkler y las trampas de caída para capturar los invertebrados de la hojarasca de un bosque localizado en la planicie del Río Paraná. Se registraron 9 clases y 26 órdenes de invertebrados. Los arácnidos (subclase Acari) fueron más abundantes que los colémbolos e insectos utilizando los métodos de Winkler y Tullgren-Berlese. Con la trampa de caída, Insecta fue el grupo 1nás abundante. Los resultados sugieren una mayor similitud (95,27%) entre los métodos embudos Tullgren-Berlese y extractores Winkler, y una clara diferencia entre estos métodos y la trampa de caída, produciendo diferentes niveles de precisión taxonómica. Cada método fue selectivo para distintas familias de Coleoptera. Las curvas de acumulación de taxa calculadas para cada método no muestran una tendencia asintótica

B Lymphocyte memory in X-linked Lymphoproliferative disease (XLP)

X-linked lymphoproliferative disease (XLP) is a severe immunodeficiency characterized by hypogammaglobulinemia, fulminant infectious mononucleosis, and/or lymphoma associated to mutations of the SH2D1A gene, encoding SAP (signaling lymphocytic activation molecule-associated protein). The initial encounter with Epstein Barr virus (EBV) triggers a massive response that leads to a fatal outcome in around 50% of the XLP individuals. Most surviving patients develop hypogammaglobulinemia and eventually B cell lymphoma. B lymphocyte development seems to be normal, but there is a marked reduction of memory B cells (CD27+ B lymphocytes). In addition, Th1 cell mediated immune responses predominate over Th2 responses. Hypogammaglobulinemia and failure to develop a long term humoral immune response can be explained because both the germinal center (GC) reaction and GC formation in secondary lymphoid organs are greatly impaired both in human XLP and in experimental SAP deficiency. Non switched memory B cells (IgM+, IgD+, CD27+ B lymphocytes) persist in XLP patients, suggesting that in spite of the lack of a GC reaction, some subgroups of memory B lymphocytes can play a role in immune homeostasis in these patients. In addition, their persistence in the presence of EBV infection, could perhaps be associated to late occurrence of extranodal B-cell lymphoma, which is another pathological condition associated to the absence of SAP in humans.Fil: Coraglia, Ana Carina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Belmonte, Liliana. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Parodi Ramoneda, Cecilia María. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Baston, Mariela. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Baré, Patricia. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Ruibal Ares, Beatriz. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Galassi, Nora Virginia. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: de Bracco, María M. E.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentin

Common Variable Immunodeficiency and Circulating TFH

CD4+ T follicular helper cells (TFH) were assessed in adult patients with common variable immune deficiency (CVID) classified according to the presence of granulomatous disease (GD), autoimmunity (AI), or both GD and AI (Group I) or the absence of AI and GD (Group II). TFH lymphocytes were characterized by expression of CXCR5 and PD-1. TFH were higher (in both absolute number and percentage) in Group I than in Group II CVID patients and normal controls (N). Within CXCR5+CD4+ T cells, the percentage of PD-1 (+) was higher and that of CCR7 (+) was lower in Group I than in Group II and N. The percentages of Treg and TFH reg were similar in both CVID groups and in N. TFH responded to stimulation increasing the expression of the costimulatory molecules CD40L and ICOS as did N. After submitogenic PHA+IL-2 stimulation, intracellular expression of TFH cytokines (IL-10, IL-21) was higher than N in Group I, and IL-4 was higher than N in Group II. These results suggest that TFH are functional in CVID and highlight the association of increased circulating TFH with AI and GD manifestations

Detection of CD16low Neutrophil Subpopulations

The analysis with a three-color staining procedure using anti-CD49d/anti-CD16/anti-CD45 monoclonal antibodies is useful to detect CD16low neutrophil subpopulation. Patients with aplastic anemia and neutropenia tend to have low expresion of CD16 on neutrophils as consecuence of a increased apoptosis or the presence of Paroxismal Nocturnal Hemoglobinuria clon. The aim of this sudy was to seek a cytometric strategy to evaluate this subpopulation.Fil: Riera Cervantes, Norma Edith. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Canalejo, Katia. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Aixalá, Mónica. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Rosso, Marisa. Asociación Española Primera de Socorros Mutuos; UruguayFil: Gaddi, Eduardo. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); ArgentinaFil: De Bracco, María M. De E.. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; ArgentinaFil: Galassi, Nora Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas "Mariano R. Castex"; Argentin

A flow cytometry evaluation of anti-FVIII antibodies: Correlation with ELISA and Bethesda assay

In this study, we describe a flow cytometry (FC) system for detecting antibodies to factor VIII (FVIII) and compare its results with those of enzyme-linked immunosorbent assay (ELISA) that detects both inhibitory (I-Ab) and non-inhibitory (NI-Ab) antibodies and the Nijmegen modification of the Bethesda method, detecting I-Ab. FC was set up in our laboratory. Recombinant FVIII (rFVIII) was coupled to microspheres (FVIII-m) and reacted with different plasma dilutions. Microspheres without rFVIII were used as control (control-m). Captured anti-FVIII antibodies were detected using anti-human IgG. Plasma samples from the following patients with severe haemophilia A (SHA) patients were evaluated: 17 P (patients without I-Ab, <0.5BUmL-1); 13 PI (patients with I-Ab, 1.1-8200BUmL-1). Of these 13, two PI were referred during immune tolerance induction (ITI), and plasmas from 12 healthy donors (HD) were evaluated. Semiquantitative results were given as an index (the highest mean fluorescence intensity ratio between FVIII-m and control-m multiplied by the inverse of the corresponding plasma dilution). Both plasma and serum were suitable for the test. FC agreed with the Bethesda method (r=0.8; P=0.0001). FC and ELISA had 80% of coincidence. Four of 17 patients (23.5%) had NI-Ab by FC, and two of them developed high levels of I-Ab later on. This test provides a useful alternative for measuring FVIII antibodies supplementing Bethesda assay. FC is fast and easy to perform. No more than 200μL of plasma or serum is required especially making it useful for paediatric patients. © 2010 Blackwell Publishing Ltd.Fil: Irigoyen, María Belén. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Primiani, L.. Fundación Argentina de Hemofilia; ArgentinaFil: Felippo, Marta Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Candela, M.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Perez Bianco, R.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: De Bracco, M. M. DE E.. Academia Nacional de Medicina de Buenos Aires; ArgentinaFil: Galassi, Nora Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentin