Estudio de redes poliméricas basadas en poliglicidol

Síntesis del poliglicidol lineal no ramificado y entrecruzamiento del mismo junto con su caracterización mediante varias técnicas

C syndrome - what do we know and what could the future hold?

In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Syndrome, Opitz C Syndrome or Opitz Trigonocephaly Syndrome (OCS; MIM # 211,750) was firmly established

La expresión oral en euskara del alumnado de bachillerato del modelo D en Navarra

La expresión oral es una de las habilidades lingüísticas principales en la producción de una lengua y el índice de progreso y dominio en el aprendizaje de la segunda lengua (L2). La expresión oral de los aprendices de la L2 está caracterizada por una sucesión de estadios que cada aprendiz atraviesa hasta la competencia oral en esa lengua. Este artículo estudia la expresión oral en euskara de los alumnos del modelo lingüístico D de Navarra al finalizar sus estudios de 1º de bachillerato. Estos alumnos de lengua materna euskera, español o ambas han seguido sus estudios en lengua vasca en las diferentes etapas educativas. En concreto se trata de analizar la calidad idiomática de los alumnos en la prueba de expresión oral perteneciente al examen certificativo del ciclo superior de euskara, llevado a cabo por la Escuela Oficial de Idiomas a Distancia de Navarra. La frecuencia y distribución de los errores en la producción oral se han correlacionado con la zona lingüística de procedencia de los centros educativos. Los resultados ponen de relieve la necesidad de incluir dentro del currículo un programa transversal orientado hacia el uso formal de la lengua hablada.Mintzamena hizkuntzaren ekoizpenak duen trebetasunik garrantzitsuenetakoa da eta bigarren hizkuntzaren (L2) ikaskuntzan aurrerapenaren eta gaitasunaren adierazle. Ikastunek hizkuntza horretan ahozko gaitasuna lortu arte gainditu behar duten estadio-segida L2-ko ikastunen mintzamenaren ezaugarria da. Artikulu honek Nafarroako D hizkuntz-ereduan dauden Batxilergoko 1. mailako ikasleen mintzamena, euskaran, aztertu du. Ikasle hauek, ama hizkuntza euskara, gaztelera edo biak dituztenak, euskaraz egin dituzte beraien ikaskuntzak hezkuntza-etapa ezberdinetan. Zehazki, Nafarroako Urrutiko Hizkuntza Eskola Ofizialean egindako Goi Zikloko azterketaren ahozko proban, ikasleek adierazi duten hizkuntza kalitatea aztertzean datza. Ahozko ekoizpenean egin diren akatsen maiztasuna eta sailkapena eta ikastetxeen jatorrizko hizkuntz-eremua korrelazioan jarri dira. Emaitzek kurrikuluan ahozko hizkuntzaren erabilera formala lantzera zuzendutako zehar-programa sar - tzeko beharra nabarmendu dute.Oral expression is one of the main language skills in the production of a language and the indicators of progress and command when learning a second language (L2). The oral expression of L2 learners is characterised by a succession of stages which each student passes before reaching oral competence in the language. This article studies the oral expression in Basque of students studying in Navarre’s language model D on finishing their 1st year of “ba - chillerato” (High school). These students, whose mother tongue is either Basque or Castilian or both, have studied in the Basque language throughout the different stages of their formal education. More specifically, the aim is to analyse the language quality of students in the oral expression test which forms part of the examination certifying the superior study level in Basque set by the Official Navarrese Distance-learning Language School. The frequency and distribution of mistakes in oral production were correlated to the language area the education centres were based in. The results highlight the need to include a cross-curricular programme aimed at the formal use of the language in the curriculum

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; Españ

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome

Bohring‐Opitz syndrome (BOS, MIM #605039) is a rare and severe disease characterized mainly by intrauterine growth retardation, feeding difficulties, severe to profound developmental delay, nonspecific brain abnormalities, microcephaly, flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints (known as BOS posture) and distinctive facial features.1 Heterozygous ASXL1 truncating mutations have been identified as the main cause of BOS.1, 2 A recent publication 3 called the attention to the fact that mutations associated with BOS are also present in the ExAC (Exome Aggregation Consortium) database.4 As ASXL1 is one of the genes most commonly mutated during hematopoietic clonal expansion of cells, the authors hypothesized that the presence of this mutation in public databases could be due to somatic mosaicism, and they could confirm the hypothesis by manual examination of the ExAC WES reads

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met). Here we present the analysis of 22 unrelated patients of different geographical origins, mainly Spanish and Argentinian. Twenty-two different mutations were found, 10 of which were novel. Five new mutations were missense and five were deletions of different sizes, including a 794-bp deletion (c.532-37-736 + 438del794) detected by Southern blot analysis. To assess the pathogenicity of these mutations, seven were expressed heterologously in Escherichia coli and their enzyme activities were assayed in vitro, in the absence and presence of the CBS activators PLP and SAM. The presence of the mutant proteins was confirmed by Western blotting. Mutations p.M173del, p.I278S, p.D281N, and p.D321V showed null activity in all conditions tested, whereas mutations p.49L, p.P200L and p.A446S retained different degrees of activity and response to stimulation. Finally, a minigene strategy allowed us to demonstrate the pathogenicity of an 8-bp intronic deletion, which led to the skipping of exon 6. In general, frameshifting deletions correlated with a more severe phenotype, consistent with the concept that missense mutations may recover enzymatic activity under certain conditions. © 2011 Wiley-Liss, Inc.Fil: Cozar, Mónica. Universidad de Barcelona; EspañaFil: Urreizti, Roser. Universidad de Barcelona; EspañaFil: Vilarinho, Laura. Instituto de Genética Médica Jacinto Magalhaes; PortugalFil: Grosso, Carola. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; ArgentinaFil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Estudios de las Metabolopatías Congénitas; ArgentinaFil: Asteggiano, Carla Gabriela. Gobierno de la Provincia de Córdoba. Ministerio de Salud. Hospital de Niños de la Santísima Trinidad; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Dalmau, Jaime. Hospital Infantil La Fe; EspañaFil: García, Ana María. Hospital Infantil La Fe; EspañaFil: Vilaseca, María Antonia. Hospital Sant Joan de De ́u; EspañaFil: Grinberg Vaisman, Daniel Raúl. Universidad de Barcelona; EspañaFil: Balcells, Susana. Universidad de Barcelona; Españ

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.Fil: Delgado, M. A.. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Martinez Domenech, G.. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Zecchini, L.. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Robledo, H. H.. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Segura, F.. Universidad Nacional de Córdoba; ArgentinaFil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Est.de Las Metabolopatias Congenitas. Cátedra de Clinica Pediatrica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentin

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met). Here we present the analysis of 22 unrelated patients of different geographical origins, mainly Spanish and Argentinian. Twenty‐two different mutations were found, 10 of which were novel. Five new mutations were missense and five were deletions of different sizes, including a 794‐bp deletion (c.532−37_736 + 438del794) detected by Southern blot analysis. To assess the pathogenicity of these mutations, seven were expressed heterologously in Escherichia coli and their enzyme activities were assayed in vitro, in the absence and presence of the CBS activators PLP and SAM. The presence of the mutant proteins was confirmed by Western blotting. Mutations p.M173del, p.I278S, p.D281N, and p.D321V showed null activity in all conditions tested, whereas mutations p.49L, p.P200L and p.A446S retained different degrees of activity and response to stimulation. Finally, a minigene strategy allowed us to demonstrate the pathogenicity of an 8‐bp intronic deletion, which led to the skipping of exon 6. In general, frameshifting deletions correlated with a more severe phenotype, consistent with the concept that missense mutations may recover enzymatic activity under certain conditions

MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

Background MicroRNAs (miRNAs) are important regulators of gene expression, with documented roles in bone metabolism and osteoporosis, suggesting potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured vs nonfractured bones. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of these differentially expressed miRNAs. Methods Total RNA was extracted from (a) fresh femoral neck trabecular bone from women undergoing hip replacement due to either osteoporotic fracture (OP group, n = 6) or osteoarthritis in the absence of osteoporosis (Control group, n = 6), matching the two groups by age and body mass index, and (b) primary osteoblasts obtained from knee replacement due to osteoarthritis (n = 4). Samples were hybridized to a microRNA array containing more than 1900 miRNAs. Principal component analysis (PCA) plots and heat map hierarchical clustering were performed. For comparison of expression levels, the threshold was set at log fold change > 1.5 and a p-value < 0.05 (corrected for multiple testing). Results Both PCA and heat map analyses showed that the samples clustered according to the presence or absence of fracture. Overall, 790 and 315 different miRNAs were detected in fresh bone samples and in primary osteoblasts, respectively, 293 of which were common to both groups. A subset of 82 miRNAs was differentially expressed (p < 0.05) between osteoporotic and control osteoarthritic samples. The eight miRNAs with the lowest p-values (and for which a validated miRNA qPCR assay was available) were assayed, and two were confirmed: miR-320a and miR-483-5p. Both were over-expressed in the osteoporotic samples and expressed in primary osteoblasts. miR-320a is known to target CTNNB1 and predicted to regulate RUNX2 and LEPR, while miR-483-5p down-regulates IGF2. We observed a reduction trend for this target gene in the osteoporotic bone. Conclusions We identified two osteoblast miRNAs over-expressed in osteoporotic fractures, which opens novel prospects for research and therapy