22 research outputs found
Lupus Pregnancy: Risk Factors and Management
Systemic lupus erythematosus (SLE) mainly affects women in the fertile age of life. A patient with SLE is as fertile as the general population except for treatment with drugs with ovarian toxicity, severe flare of the disease, or autoimmune oophoritis for anti-ovarian antibodies. Pregnancy in a woman with SLE implies greater maternal and fetal mortality and morbidity. Fetal loss, premature birth, intrauterine growth restriction associated with antiphospholipid antibodies (aPL), and neonatal lupus associated with anti-Ro are important fetal problems. Similarly, preeclampsia and lupus nephritis may lead to diagnostic confusion. Treatment options during pregnancy are limited to a few safe medications, which further restricts options. The loss of refractory pregnancy associated with antiphospholipid antibodies and the complete heart block associated with anti-Ro antibodies remain unresolved problems. The planning of pregnancy with sustainable treatments during pregnancy, no flare of SLE in the previous 6 months, and absence of nephritis are important for a good maternal and fetal prognosis. A gestation planning, multidisciplinary approach, and close monitoring are essential to obtain optimal results
Review of archaeological treatments for cleaning mural painting. Elimination of carbonate concretions
Gran parte de los hallazgos de pintura mural arqueológica se producen en excavaciones terrestres, hecho que condiciona el estado de conservación en el que se encuentran. Es común, en objetos procedentes de un ambiente de enterramiento alcalino, la formación en superficie de costras carbonaticos compactas y tenaces, en mayor o menor medida, que impiden su correcta visualización, circunstancia especialmente negativa en el caso de una obra pictórica. El presente artículo recoge un estudio realizado acerca de diversos tratamientos de limpieza destinados a la eliminación de estas concreciones carbonaticas. Dicho estudio ha consistido en una revisión teórica bibliográfica del tema y en la realización de un supuesto practico, experimentando y comparando varios tratamientos seleccionados, en una probeta creada para este fin.A good deal of the findings of archaeological mural paintings are in land excavations, a factor which conditions the state of repair in which these are found. The formation of compact and stubborn carbonate crusts on the surface of objects proceeding from an alkaline underground atmosphere is commonly found. These prevent the objects proper visualization, something which is particularly negative in the case of a pictorial work. This article covers a study made on different cleaning treatments intended for the elimination of these carbonate concretions. The study consisted of a theoretical bibliographic review of the matter and the execution of a practical example, experimenting and comparing several selected treatments on a test piece created for this purpose.Del Ordi Castilla, B.; Regidor Ros, JL.; Pasies Oviedo, T. (2010). Revisión de tratamientos de limpieza de pintura mural arqueológica. Eliminación de concreciones carbonáticas. Arché. (4-5):73-80. http://hdl.handle.net/10251/3052573804-
Urinary Neuropilin-1 (NRP-1) as a prognostic marker for nephritis and lupus nephritis
La presente invención se refiere a los métodos para predecir el progreso de nefritis y nefritis lúpica en un individuo. La presente invención también se refiere a los métodos para evaluar el desarrollo de la nefritis, particularmente la nefritis lúpica, en un individuo y su respuesta a un tratamiento.Peer reviewedConsejo Superior de Investigaciones Científicas (España), Fundació Hospital Universitari Vall d'Hebron - Institut de recercaA1 Solicitud de patente con informe sobre el estado de la técnic
Urinary Neuropilin-1 (NRP-1) as a prognostic marker for nephritis and lupus nephritis
La presente invención se refiere a los métodos para predecir el progreso de nefritis y nefritis lúpica en un individuo. La presente invención también se refiere a los métodos para evaluar el desarrollo de la nefritis, particularmente la nefritis lúpica, en un individuo y su respuesta a un tratamiento.Peer reviewedConsejo Superior de Investigaciones Científicas (España), Fundació Hospital Universitari Vall d'Hebron - Institut de recercaB1 Patente sin examen previ
Neurofilina-1 (NRP-1) urinaria como marcador pronóstico de nefritis y nefritis lúpica
[EN] The invention relates to methods for predicting the progression of nephritis and lupus nephritis in an individual. The invention also relates to methods for evaluating the development of the nephritis, in particular lupus nephritis, in an individual and the response to a treatment.[ES] La presente invención se refiere a los métodos para predecir el progreso de nefritis y nefritis lúpica en un individuo. La presente invención también se refiere a los métodos para evaluar el desarrollo de la nefritis, particularmente la nefritis lúpica, en un individuo y su respuesta a un tratamiento.Peer reviewedConsejo Superior de Investigaciones Científicas, Fundació Hospital Universitari Vall D'Hebron-Institut de RecercaA1 Solicitud de adición a la patent
Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study
Introduction We aimed to replicate association of newly identified
systemic lupus erythematosus (SLE) loci.
Methods We selected the most associated SNP in 10 SLE loci. These 10
SNPs were analysed in 1,579 patients with SLE and 1,726 controls of
European origin by single-base extension. Comparison of allele
frequencies between cases and controls was done with the Mantel-Haenszel
approach to account for heterogeneity between sample collections.
Results A previously controversial association with a SNP in the TYK2
gene was replicated (odds ratio (OR) = 0.79, P = 2.5 x 10(-5)), as well
as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085
in women), which had only been reported in a single study, and
association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK
(OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR =
0.84, P = 0.001), which have been identified in a genome-wide
association study, but not found in any other study. All these
replications showed the same disease-associated allele as originally
reported. No association was found with the LY9 SNP, which had been
reported in a single study.
Conclusions Our results confirm nine SLE loci. For six of them, TYK2,
MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important.
The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly
confirmed. Our results also suggest that MECP2 association has no
influence in the sex bias of SLE, contrary to what has been proposed. In
addition, none of the other associations seems important in this
respect
Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure
Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very
varied spectrum of clinical manifestations that could be partly
determined by genetic factors. We aimed to determine the relationship
between prevalence of 11 clinical features and age of disease onset with
European population genetic substructure. Data from 1413 patients of
European ancestry recruited in nine countries was tested for association
with genotypes of top ancestry informative markers. This analysis was
done with logistic regression between phenotypes and genotypes or
principal components extracted from them. We used a genetic additive
model and adjusted for gender and disease duration. Three clinical
features showed association with ancestry informative markers:
autoantibody production defined as immunologic disorder (P =
6.8x10(-4)), oral ulcers (P = 6.9x10(-4)) and photosensitivity (P =
0.002). Immunologic disorder was associated with genotypes more common
in Southern European ancestries, whereas the opposite trend was observed
for photosensitivity. Oral ulcers were specifically more common in
patients of Spanish and Portuguese self-reported ancestry. These results
should be taken into account in future research and suggest new
hypotheses and possible underlying mechanisms to be investigated. A
first hypothesis linking photosensitivity with variation in skin
pigmentation is suggested
Replication of recently identified systemic lupus erythematosus genetic associations: a case control study.
We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.
METHODS: We selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension. Comparison of allele frequencies between cases and controls was done with the Mantel-Haenszel approach to account for heterogeneity between sample collections.
RESULTS: A previously controversial association with a SNP in the TYK2 gene was replicated (odds ratio (OR) = 0.79, P = 2.5 x 10-5), as well as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085 in women), which had only been reported in a single study, and association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK (OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR = 0.84, P = 0.001), which have been identified in a genome-wide association study, but not found in any other study. All these replications showed the same disease-associated allele as originally reported. No association was found with the LY9 SNP, which had been reported in a single study.
CONCLUSIONS: Our results confirm nine SLE loci. For six of them, TYK2, MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important. The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly confirmed. Our results also suggest that MECP2 association has no influence in the sex bias of SLE, contrary to what has been proposed. In addition, none of the other associations seems important in this respect
Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study
Introduction: We aimed to investigate whether the effect size of the
systemic lupus erythematosus (SLE) risk alleles varies across European
subpopulations.
Methods: European SLE patients (n = 1,742) and ethnically matched
healthy controls (n = 2,101) were recruited at 17 centres from 10
different countries. Only individuals with self-reported ancestry from
the country of origin were included. In addition, participants were
genotyped for top ancestry informative markers and for 25 SLE associated
SNPs. The results were used to compare effect sizes between the Central
Eureopan and Southern European subgroups.
Results: Twenty of the 25 SNPs showed independent association with SLE,
These SNPs showed a significant bias to larger effect sizes in the
Southern subgroup, with 15/20 showing this trend (P = 0.019) and a
larger mean odds ratio of the 20 SNPs (1.46 vs. 1.34, P = 0.02) as well
as a larger difference in the number of risk alleles (2.06 vs. 1.63, P =
0.027) between SLE patients and controls than for Central Europeans.
This bias was reflected in a very significant difference in the
cumulative genetic risk score (4.31 vs. 3.48, P = 1.8 x 10(-32)). Effect
size bias was accompanied by a lower number of SLE risk alleles in the
Southern subjects, both patients and controls, the difference being more
marked between the controls (P = 1.1 x 10(-8)) than between the Southern
and Central European patients (P = 0.016). Seven of these SNPs showed
significant allele frequency clines.
Conclusion: Our findings showed a bias to larger effect sizes of SLE
loci in the Southern Europeans relative to the Central Europeans
together with clines of SLE risk allele frequencies. These results
indicate the need to study risk allele clines and the implications of
the polygenic model of inheritance in SLE