Desarrollo de un sistema de imagen para la planificación de operaciones de la aorta

El desarrollo de tecnologías de imagen y más específicamente aquellas relacionadas con la imagen 3D han llevado al desarrollo de nuevos enfoques para las intervenciones en general y en el campo de la cirugía vascular en particular. La posibilidad de obtener modelos de imágenes 3D sobre los cuales simular la intervención, abre la puerta al desarrollo de técnicas de planificación que, desarrolladas sobre modelos 3D virtuales, posibilitan el análisis de riesgos ante diferentes posibilidades de abordar el problema. La presente tesis ha abordado el desarrollo de un sistema de imagen dedicado a la planificación en cirugía endovascular

Particular association of clinical and genetic features with autoimmunity to citrullinated α-enolase in rheumatoid arthritis.

OBJECTIVE: To confirm that the presence of anti-citrullinated alpha-enolase peptide 1 (anti-CEP-1) antibodies identifies a subgroup of patients with rheumatoid arthritis (RA). METHODS: DNA and serum samples were obtained from 451 patients with RA and 279 healthy control subjects, all of whom were of Spanish ancestry. Antibodies to cyclic citrullinated peptide (CCP) and CEP-1 were measured by enzyme-linked immunosorbent assay. HLA-DRB1 and the R620W single-nucleotide polymorphism of PTPN22 were genotyped. RESULTS: Anti-CEP-1 and anti-CCP antibodies were observed in 26.8% and 71.2% of the patients with RA, respectively. Most of the patients (86.6%) with anti-CEP-1 antibodies also had anti-CCP antibodies. Erosive arthritis, rheumatoid factor (RF) positivity, and the presence of the HLA shared epitope (especially the DRB1*04 alleles) were disproportionately associated with the group of patients with both antibodies. In addition, evidence of a significant interaction between the shared epitope and the risk allele of PTPN22 was observed only in these patients. In contrast, the association with these clinical and genetic features was weaker in patients with anti-CCP antibodies but lacking anti-CEP-1 antibodies. These results were obtained in patients in whom the prevalence of RA risk factors differed from that in other previously studied patients. CONCLUSION: We observed that autoimmunity against citrullinated alpha-enolase may identify a subset of patients with a higher frequency of joint erosions and RF positivity. In addition, we confirmed the disproportionately large effect of the susceptibility alleles of HLA-DRB1 and their interaction with PTPN22 in this subset of patients. These results extend, confirm, and generalize the evidence supporting the specificity of the anti-CEP-1 antibody-positive subgroup of patients with RA among anti-CCP antibody-positive patients with RA

Ultrasonographic assessment of enthesitis in HLA-B27 positive patients with rheumatoid arthritis, a matched case-only study

Introduction HLA-B27 has a modifier effect on the phenotype of multiple diseases, both associated and non-associated with it. Among these effects, an increased frequency of clinical enthesitis in patients with Rheumatoid Arthritis (RA) has been reported but never explored again. We aimed to replicate this study with a sensitive and quantitative assessment of enthesitis by using standardized ultrasonography (US). Methods The Madrid Sonography Enthesitis Index (MASEI) was applied to the US assessment of 41 HLA-B27 positive and 41 matched HLA-B27 negative patients with longstanding RA. Clinical characteristics including explorations aimed to evaluate spondyloarthrtitis and laboratory tests were also done. Results A significant degree of abnormalities in the entheses of the patients with RA were found, but the MASEI values, and each of its components including the Doppler signal, were similar in HLA-B27 positive and negative patients. An increase of the MASEI scores with age was identified. Differences in two clinical features were found: a lower prevalence of rheumatoid factor and a more common story of low back pain in the HLA-B27 positive patients than in the negative. The latter was accompanied by radiographic sacroiliitis in two HLA-B27 positive patients. No other differences were detected. Conclusion We have found that HLA-B27 positive patients with RA do not have more enthesitis as assessed with US than the patients lacking this HLA allele. However, HLA-B27 could be shaping the RA phenotype towards RF seronegativity and axial involvement.The study was supported by grants 10CSA918040PR from the Xunta de Galicia (http://www.sergas.e/MostrarContidos_N3_T01.aspx?IdPaxina=10142) and PI08/0744 of the Instituto de Salud Carlos III (http://www.isciii.es/) that are partially financed by the European Regional Development Fund of the European UnionS

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent Muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, Muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of legs, as well as mild scapular winging and hyperlordosis. A muscle biopsy taken from the biceps brachii showed mild dystrophic changes, absent vacuoles, and abundant lobulated fibers. Immunofluorescence and Western blot assays demonstrated complete telethonin deficiency. Molecular analysis revealed a homozygous Trp25X mutation in the telethonin (TCAP) gene resulting in termination of transcription at an early point. Four families from Brazil with telethonin deficiency have previously been reported and classified as LMD2G, but the actual frequency of this disease is unknown. With this current identification of a case outside the Brazilian Population, telethonin mutation-associated LGMD should be considered worldwide. (C) 2008 Elsevier B.V. All rights reserved

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations

Aportaciones a la flora de Galicia, X

In this study mentioned 79 different plants with interest to the flora of Galicia and other territories of the Iberian Peninsula. One of them are new records for Spain flora (Watsonia bulbillifera), 24 are regional novelties (Crassula arborescens, Teline monspessulana, Hippocrepis comosa, Chamaesyce polygonifolia, Myosotis congesta, Verbena bonariensis, Senecio pyrenaicus, Taraxacum acutangulum, T. braun-blanquetii, T. cantabricum, T. ekmanii, T. fulgidum, T. hispanicum, T. lambinonii, T. maculosum, T. pinto-silvae, T. rubicundum, T. sundbergii, Agropyrum cristatum subsp. pectinatum, Bromus inermis, Pennisetum clandestinum, Eragrostis mexicana var. virescens, Iris planifolia, Chasmanthe floribunda), 26 novedades provinciales (Ranunculus peltatus subsp. peltatus var. peltatus, Modiola caroliniana, Sedum dendroideum, Paraserianthes lophantha, Geranium purpureum, Calystegia silvatica subsp. disjuncta, Echium vulgare subsp. pustulatum, Linaria aguillonensis, Linaria lamarckii, Glechoma hederacea, Asperula aristata subsp. scabra, Taraxacum drucei, T. gallaecicum, T. marklundii, T. nordstedtii, Luzula lactea, Commelina communis, Canna indica, Cyperus involucratus, Paspalum notatum, Asphodelus fistulosus, Muscari neglectum, Veratrum album, Iris foetidissima and Hedychium gardnerianum, Passiflora caerulea). Also 15 of them are commented by its taxonomic, ecologic or chorological interest. Clypeola jonthlaspi, Alchemilla transiens, Asperula cynanchica subsp. cynanchica, Valeriana tripteris subsp. tripteris, Luzula sudetica and Rhynchos pora modesti-lucennoi are confirmed for the Galician flora. Morever, in the light of further information, we remove 6 plants from the catalog of the vascular flora of Galicia (Iberis amara, I. linifolia, Sedum sediforme, Anarrhinum laxiflorum, Asperula aristata subsp. aristata and Taraxacum palustre) and Carex vesicaria from the catalog of the Parque Nacional de las Illas Atlánticas.En este trabajo se mencionan 79 plantas de diverso interés para la flora de Galicia y otras zonas de la Península ibérica. Se incluyen 1 novedades para España (Watsonia bulbillifera), 24 novedades regionales (Crassula arborescens, Teline monspessulana, Hippocrepis comosa, Chamaesyce polygonifolia, Myosotis congesta, Verbena bonariensis, Senecio pyrenaicus, Taraxacum acutangulum, T. braun-blanquetii, T. cantabricum, T. ekmanii, T. fulgidum, T. hispanicum, T. lambinonii, T. maculosum, T. pinto-silvae, T. rubicundum, T. sundbergii, Agropyrum cristatum subsp. pectinatum, Bromus inermis, Pennisetum clandestinum, Eragrostis mexicana var. virescens, Iris planifolia, Chasmanthe floribunda), 26 novedades provinciales (Ranunculus peltatus subsp. peltatus var. peltatus, Modiola caroliniana, Sedum dendroideum, Paraserianthes lophantha, Geranium purpureum, Calystegia silvatica subsp. disjuncta, Echium vulgare subsp. pustulatum, Linaria aguillonensis, Linaria lamarckii, Glechoma hederacea, Asperula aristata subsp. scabra, Taraxacum drucei, T. gallaecicum, T. marklundii, T. nordstedtii, Luzula lactea, Commelina communis, Canna indica, Cyperus involucratus, Paspalum notatum, Asphodelus fistulosus, Muscari neglectum,Veratrum album, Iris foetidissima y Hedychium gardnerianum, Passiflora caerulea) y otras 15 de interés diverso, bien ecológico, corológico o taxonómico. Se confirma la presencia de Clypeola jonthlaspi, Alchemilla transiens, Asperula cynanchica subsp. cynanchica, Valeriana tripteris subsp. tripteris, Luzula sudetica y Rhynchospora modesti-lucennoi. También, y a la luz de la información obtenida, eliminamos del catálogo de la flora vascular de Galicia 6 taxones (Iberis amara, I. linifolia, Sedum sediforme, Anarrhinum laxiflorum, Asperula aristata subsp. aristata y Taraxacum palustre) y Carex vesicaria del Parque Nacional de las Illas Atlánticas

HLA-B*08 identified as the most associated MHC locus for anti-carbamylated protein antibody-positive/anti-CCP-negative rheumatoid arthritis

Objective: Previously, only the HLA-DRB1 alleles have been assessed in rheumatoid arthritis (RA). The aim of the present study was to identify the key major histocompatibility complex (MHC) susceptibility factors showing a significant association with anti-carbamylated protein antibody-positive (anti-CarP+) RA. Methods: Analyses were restricted to RA patients who were anti-cyclic citrullinated peptide antibody negative (anti-CCP-), because the anti-CCP status dominated the results otherwise. Therefore, we studied samples from 1,821 anti-CCP- RA patients and 6,821 population controls from Spain, Sweden, and the Netherlands. The genotypes for ~8,000 MHC biallelic variants were assessed by dense genotyping and imputation. Their association with the anti-CarP status in RA patients was tested with logistic regression and combined with inverse-variance meta-analysis. Significance of the associations was assessed according to a study-specific threshold of P < 2.0 × 10-5 . Results: The HLA-B*08 allele and its correlated amino acid variant Asp-9 showed a significant association with anti-CarP+/anti-CCP- RA (P < 3.78 × 10-7 ; I2 = 0). This association was specific when assessed relative to 3 comparator groups: population controls, anti-CarP-/anti-CCP- RA patients, and anti-CCP- RA patients who were positive for other anti-citrullinated protein antibodies. Based on these findings, anti-CarP+/anti-CCP- RA patients could be separated from other antibody-defined subsets of RA patients in whom an association with the HLA-B*08 allele has been previously demonstrated. No other MHC variant remained associated with anti-CarP+/anti-CCP- RA after accounting for the presence of the HLA-B*08 allele. Specifically, the reported association of HLA-DRB1*03 was observed at a level comparable to that reported previously, but it was attributable to linkage disequilibrium. Conclusion: These results identify HLA-B*08 carrying Asp-9 as the MHC locus showing the strongest association with anti-CarP+/anti-CCP- RA. This knowledge may help clarify the role of the HLA in susceptibility to specific subsets of RA, by shaping the spectrum of RA autoantibodies. © 2020, American College of Rheumatology

Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients