18 research outputs found

    Photojournalism in the newspaper Diagonal

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    Diagonal fue un periódico independiente que nació en 2004, en Madrid, con la idea de aglutinar toda la información sobre los movimientos sociales existentes en España. Diagonal apostó por un periodismo crítico y de interés social y por la imagen como una forma de explicar la realidad. El medio contaba con un área específica para la fotografía, por ello, hay que estudiar su archivo fotográfico. Esta área fue creada por el fotoperiodista Olmo Calvo, y estaba organizada por Álvaro Minguito y David Fernández. Juntos coordinaban una sección dentro de Diagonal destinada íntegramente al reportaje gráfico: Enfoques. Esta investigación se centrará en la importancia que tuvo la fotografía en Diagonal, se verá no solo a través de la sección Enfoques sino también revisando las portadas y el número total de imágenes incluídas en cada ejemplar. Se pretende mostrar cómo, en unos tiempos tan convulsos para el fotoperiodismo, Diagonal lo apoyó y publicó a fotoperiodistas freelance para que se pudieran visualizar sus trabajos en papel. Es interesante también clasificar las temáticas abordadas en los reportajes gráficos de Enfoques para ver qué tipo de periodismo llevó a cabo.Diagonal was an independent newspaper that was born in 2004, in Madrid. The objective of this newspaper was to gather all the information about social movements in Spain. Diagonal was a critical journalist. The contents of Diagonal had great social interest. Reality can be explained very well with images. Therefore, this newspaper decided to include many images on its pages. This means of communication created a photographic area, therefore, it had an important photographic archive. Currently, photographic archives have disappeared from most newsrooms in the world. The photojournalist Olmo Calvo created the photographic area of Diagonal, together with Álvaro Minguito and David Fernández. The three photographers made the section Enfoques in Diagonal. This research will focus on the importance that photography has had for Diagonal, for this, it is necessary to observe the characteristics of Enfoques, to check whether or not there are photographs on the covers of Diagonal, and to know the total number of images of each copy. This research aims to demonstrate how Diagonal opted for photojournalism in a complicated period for photojournalism

    Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

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    Background: We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms. Methods: A familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patients with unbalanced genome copy number changes. Results: Discordant array-CGH and FISH results in the mother of a child with a prenatally detected 16p13.11 interstitial microduplication disclosed a balanced uncommon rearrangement in this chromosomal region. Further dosage and haplotype familial studies revealed that both the maternal grandfather and uncle had also the same 16p duplication as the proband. Genomic compensation observed in the mother probably occurred as a consequence of interchromosomal postzygotic nonallelic homologous recombination. Conclusions: We emphasize that such a dualistic strategy is essential for the full characterization of genomic rearrangements as well as for appropriate genetic counselingFISH and aCGH materials were supported by grant 08/PI1207 from Fondo de Investigaciones Sanitarias (FIS) and research project ENDOSCREEN (S2011/BMD-2396) from Comunidad de Madri

    Patient with Cri-du-chat and Beckwith-Wiedemann Syndromes originating from a paternal translocation

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    Citogenética y Genética molecularCri-du-Chat syndrome (CdCS) is one of the most common deletion syndromes (1/15,000-1/50,000 live births) caused by the loss of material from the short arm of chromosome 5 (5p). Although the breakpoints are variable, the CdCS critical region has been shown to be located at 5p15.2 as microdeletions of this region as well as larger deletions of varying sizes, produce the phenotype associated with this syndrome. Patients born with CdCS usually present with microcephaly, round face, hypertelorism, epicanthic folds, micrognathia, large nasal bridge, growth delay, and severe psychomotor retardation. However, the main distinguishing feature of this syndrome is the characteristic cry: a high-pitched, monotonous, cat-like cry. Approximately 80% of patients with CdCS have “de novo” deletions, 10% present with a derivative chromosome from a parental translocation that results in monosomy 5p with trisomy of the other chromosome involved in the rearrangement, and 10% are caused by rarer chromosome alterations, such as inversions. The second disorder of interest, Beckwith-Wiedemann syndrome (BWS), has a frequency of 1 in 13,700 live born children and is the most common of the overgrowth syndromes. It is characterised by macrosomia, hemihyperplasia, macroglossia, abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), earlobe creases, visceromegaly, neonatal hypoglycemia, and a predisposition to embryonal malignancies such as hepatoblastoma, neuroblastoma, rabdomyosarcoma, and Wilms tumour. The etiology of BWS is very complex, involving genetic and epigenetic processes within the p15 region in the short arm of chromosome 11. Up to 60 % of patients with BWS have an epigenetic error in one of the imprinting centers in 11p15 (caused by loss or gain of methylation), approximately 20% have uniparental disomy (UPD), 10% have mutations of the CDKN1C gene, and only 2% of cases have chromosome rearrangements affecting 11p. The majority of these alterations result from the unbalanced segregation of a parental translocation or inversion, and when the disorder is caused by the inheritance of a balanced rearrangement, the alteration is always maternallyderived. To assess the recurrence risk, it is very important to identify the type of mechanism causing the syndrome, although in 10-15% patients the etiology for BWS remains unidentified. In this article, we present a newborn female with a derivative chromosome 5, resulting from a paternal translocation involving chromosomes 5 and 11. This has resulted in the proband having partial monosomy for 5p and partial trisomy for 11p, producing a clinical picture in which the features of both CdCS and BWS are observed. The baby presented with a strange cry, dysmorphics features, (including epicanthic folds, long palpebral fissures, broad nasal bridge with small nose, and microretrognathia), macroglossia, short neck, bell-shaped thorax with widely-spaced, asymmetrical nipples, single-palmar crease on both hands, long feet with malposition of the toes, and interiorly displaced anus. She also showed generalized hypotonia and neonatal persistent hypoglycemia. Although high-resolution G-banded chromosome studies showed an apparently normal, female karyotype, a FISH screening of the subtelomeric regions of all chromosomes showed monosomy for 5p and trisomy for 11p. Further FISH investigation with a probe specific for the CdCS critical region confirmed this locus to be deleted. Parental studies detected the presence of an apparently balanced translocation between chromosomes 5 and 11 in the father. Molecular analysis using microsatelites was carried out showing a deletion of 15.93 Megabases (Mb) on chromosome 5 and a deletion of 10.87 Mb on chromosome 11, both of paternal origin. Although there are six previous published cases that originated from similar paternal translocations, the altered chromosome regions are of different sizes, and the current infant seems to be the first in which the clinical characteristics of both CdCS and BWS are recognized.N

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

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    <p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date.</p> <p>Methods</p> <p>We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.</p> <p>Results</p> <p>Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial <it>de novo </it>1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.</p> <p>Conclusion</p> <p>The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</p

    A Neuroregenerative Human Ensheathing Glia Cell Line With Conditional Rapid Growth

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    Ensheathing glia have been demonstrated to have neuroregenerative properties but this cell type from human sources has not been extensively studied because tissue samples are not easily obtained, primary cultures are slow growing, and human cell lines are not available. We previously isolated immortalized ensheathing glia by gene transfer of BMI1 and telomerase catalytic subunit into primary cultures derived from olfactory bulbs of an elderly human cadaver donor. These cells escape the replicative senescence characteristic of primary human cells while conserving antigenic and neuroregenerative properties of ensheathing glia, but their low proliferative rate in culture complicates their utility as cell models and their application for preclinical cell therapy experiments. In this study we describe the use of a conditional SV40 T antigen (TAg) transgene to generate human ensheathing glia cell lines, which are easy to maintain due to their robust growth in culture. Although these fast growing clones exhibited polyploid karyotypes frequently observed in cells immortalized by TAg, they did not acquire a transformed phenotype, all of them maintaining neuroregenerative capacity and antigenic markers typical of ensheathing glia. These markers were also retained even after elimination of the TAg transgene using Cre/LoxP technology, although the cells died shortly after, confirming that their survival depended on the presence of the immortalizing genes. We have also demonstrated here the feasibility of using these human cell lines in animal models by genetically marking the cells with GFP and implanting them into the injured spinal cord of immunosuppressed rats. Our conditionally immortalized human ensheathing glia cell lines will thus serve as useful tools for advancing cell therapy approaches and understanding neuroregenerative mechanisms of this unique cell type.This work was supported by grants from Noscira S.A. and the Fundación Marcelino Botín. Filip Lim held Ramón y Cajal and I3 research incorporation contracts from the Spanish Ministry of Science.Peer reviewe

    A Smart Strategy to Improve t-Resveratrol Production in Grapevine Cells Treated with Cyclodextrin Polymers Coated with Magnetic Nanoparticles

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    One of the most successfully procedures used to increase the production of t-resveratrol in Vitis vinifera suspension-cultured cells is the application of cyclodextrins (CDs) and methyl jasmonate (MJ) as elicitors. In particular, &beta;-CDs are characterized by their chemical structure which makes them special, not only by acting as elicitors, but also because they are compounds capable of trapping high added-value hydrophobic molecules such as t-resveratrol. However, the use of &beta;-CDs as elicitors increases the production costs of this compound, making their industrial exploitation economically unfeasible. Therefore, the development of &beta;-CDs recovery strategies is necessary to provide a viable solution to their industrial use. In this work, carboxymethylated and hydroxypropylated &beta;-CDs have been used to form polymers using epichlorohydrin (EPI) as a cross-linking agent. The polymers were coated to Fe3O4 nanoparticles and were jointly used with MJ to elicit V. vinifera suspension-cultured cells. Once elicitation experiments were finished, a magnet easily allowed the recovery of polymers, and t-resveratrol was extracted from them by using ethyl acetate. The results indicated that the production of t-resveratrol in the presence of free carboxymethyl-&beta;-CDs was much lower than that found in the presence of carboxymethyl-&beta;-cyclodextrins-EPI polymer coated magnetic nanoparticles. In addition, the maximal levels of t-resveratrol were found at 168 h of elicitation in the presence of 15 g/L hydroxypropyl-&beta;-CDs polymer coated magnetic nanoparticles and MJ, and non-t-resveratrol was found in the extracellular medium, indicating that all the t-resveratrol produced by the cells and secreted into the culture medium was trapped by the polymer and extracted from it. This work also showed that polymers can be regenerated and reused during three cycles of continuous elicitation since the induction and adsorption capacity of hydroxypropyl-&beta;-CDs polymer-coated magnetic nanoparticles after these cycles of elicitation remained high, allowing high concentrations of t-resveratrol to be obtained

    Evolution in Europe of African swine fever genotype II viruses from highly to moderately virulent

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    Since its arrival in the Caucasus and Russia in 2007, African swine fever virus (ASFV) has spread widely and has now affected the EU countries of Estonia, Latvia, Lithuania, Poland and, more recently, the Czech Republic and Romania. The ever-increasing evidence of seropositive wild boar in certain areas suggests that some animals may be surviving for some time or could even be recovering from the disease. This could be due to acquired immunity after the primary infection and/or the presence of related viruses of reduced virulence. To assess these hypotheses, two ASFV field strains from Estonia were studied in vivo in two groups of domestic pigs. After an incubation period of 4 ± 1.6 days, the pigs inoculated intramuscularly with Es15/WB-Tartu 14 ASFV (group 2) developed clinical signs associated with acute disease and succumbed 7 and 11 days post infection (dpi). Pigs inoculated with Es15/WB-Valga-14 ASFV (group 1) had longer incubation times (8 days) than those in group 2 and developed variable clinical signs and lesions compatible with subacute and chronic forms of ASF; they succumbed at 11 and 25 dpi. The in-contact pigs in both groups became infected 7-14 days after exposure and exhibited variable clinical manifestations and pathological findings ranging from acute to chronic disease. Two animals per group recovered completely after infection and were protected against a subsequent homologous virus challenge-exposure performed at 78 dpi. Under experimental conditions, no transmission occurred from the survivors to susceptible sentinel pigs housed together with the survivors 137 days after the primary infection

    Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype

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    We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrom
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