AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.
We report here 2 patients with chronic nonspherocytic hemolytic anemia (CNSHA) and severe red blood cell (RBC) adenylate kinase (AK) deficiency. One of these patients, a boy of Spanish origin, exhibited a neonatal icterus and splenomegaly and required blood transfusions until the age of 2 years. The other patient was a white, American infant born to parents who were first cousins; he also presented with neonatal icterus and anemia. In neither case was psychomotor impairment observed. The first patient was found to be a compound heterozygote for 2 different missense mutations, 118G>A (Gly40Arg) and 190G>A (Gly64Arg) (cDNA sequence first described by Matsuura et al, 1989). The second patient was homozygous for an in-frame deletion (GAC) from nucleotide (
The suitability of different host plants for Pieris rapae L. in the South of the Iberian Peninsula, was studied in relation to host plant phenology, female behaviour, and larval development. Capparis spinosa is the only host plant available during the dry season of the year in the area studied. D. virgata, R. raphanistrum, H. incana and S. alba being suitable spring hosts. Comparative studies on mortality, larval development and larval growth between C. spinosa and the spring hosts revealed no significant differences.
Résumé
Capparis spinosa L. (Capparaceae), plante‐hôte complémentaire pour Pieris rapae L. dans le sud de la péninsule ibérique, pendant la saison sèche annuelle
L'adéquation de différentes plantes comme hôtes de P. rapae a été examinée en fonction de la phénologie des végétaux, du comportement de la femelle et du développement larvaire dans le sud de la péninsule ibérique. Pendant la saison sèche, C. spinosa est la seule plant convenable dans la zone étudiée. Diplotaxis virgata, Raphanus raphanistrum, Hirschfeldia incana et Sinapis alba sont des hôtes printaniers convenables. La mortalité, le développement et la croissance larvaires ne sont pas différentes sur C. spinosa et sur les hôtes de printemps.
Resumen: El presente artículo se propone constatar la implicación femenina en los escenarios de la lucha, concretamente en episodios de verdadera amenaza como en el caso de los sitios, e intentar determinar hasta qué punto la necesidad de tomar partido en la defensa de sus ciudades, de sus familias, significó una mayor o menor ocupación de espacios propiamente masculinos por parte de ellas. Específicamente, se tratará de recuperar del olvido la acción femenina y su contribución en tres episodios bélicos de importancia como son la sublevación catalana de la Guerra dels Segadors, la Guerra de Sucesión y la Guerra de la Independencia. Tres ejemplos de conflicto en los que destaca sobremanera la acción de las mujeres asediadas. Palabras Clave: Mujeres, sitios, Guerra de la Independencia, Guerra dels Segadors, Guerra de Sucesión.Abstract: This article was proposed to verify the involvement of women in the fight scenes, particularly in episodes of real threat as in the case of sieges, and to try determining to what extent the need to take a stand in defense of their cities, their families, meant a greater or lesser occupation of properly masculine spaces by them. Specifically, we try to retrieve from oblivion the women action and their contribution on three major military events such as the Catalan uprising known as Reapers' War, the War of Spanish Succession and the Peninsular War. Three examples of conflicts in which the action of women under siege tales special importance.
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Introduction:
The G-CSF (granulocyte colony-stimulating factor) is the cytokine most commonly used for the mobilization of hematopoietic progenitor cells (HPCs) from healthy donors used in allogenic transplantation (allo-HSCT). Although the administration of G-CSF is considered safe, the knowledge about its long-term effects, especially in HPCs, is limited. The aim of this study was to analyze whether G-CSF induces changes in gene and miRNAs expression profiles in HPCs from healthy donors, and determine whether or not these changes persist at the long term.
Materials and Method:
CD34 + cells were isolated by immunomagnetic separation and sorting from 5 healthy donors before mobilization with G-CSF and at afterwards at 5, 30 and 365 days after mobilization. A pool of samples from PB not mobilized was used as reference group. We analyzed the expression of 375 miRNAs using TaqMan MicroRNA Arrays Human v2.0 (Applied Biosystems), and the gene expression profile using Whole Human Genome Oligo microarray kit 4×44K (Agilent). The expression levels of genes and miRNAs were obtained by the 2-ΔΔCTmethod. From expression data hierarchical clustering was performed using the Euclidean distance. To identify genes and miRNAs differentially expressed due to the effect of G-CSF at different time-points a cut-off value of level expression 2,5 above or below the control values was used and non-parametric Mann-Whitney test was applied. All analysis were performed using the Multi-experiment Viewer 4.7.1. The function of the miRNAs and genes of interest was determined from the various databases available online (TAM database, Gene Ontology, TargetScan Human).
Results:
Seven miRNAs were differentially expressed in HPCs at 5, 30 and 365 days after mobilization with G-CSF, as compared to HPCs obtained from not mobilized PB. In addition, 67 genes were also differentially expressed after administration of G-CSF, whose expression profiles remained abnormal 1 year after mobilization.
These genes are involved in biological processes such as hematopoietic cell proliferation, ribosomal protein synthesis, cell metabolism and transmembrane transportation. Interestingly, 8 of these genes are target of the miRNAs also identified in the current study, which suggests that their expression might be regulated by these miRNAs.
Conclusion:
The G-CSF modifies gene expression profiles and miRNAs in HPCs from healthy donors. Remarkably, these changes were observed from early time-points and persisted at least 1 year after exposure to the drug. This effect of G-CSF on HPCs have not been previously reported and might be clinically relevant.
Disclosures:
No relevant conflicts of interest to declare.
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