Genetic variability in two spanish horse populations: preliminary results

The genetic variability has been analyzed through the allelic frequencies distribution of ten STR (Short Tandem Repeat) equine loci of three different horse populations, Asturcón, Pottoka and Thoroughbred (PSI), which is considered as an outgroup. The genetic variability found in the pony breeds is higher than for PSI and only one of the ten loci analyzed is significantly desviated from Hardy-Weinberg equilibrium (= 0.01) in Asturcón and Pottoka populations. The FST value (0.054) shows a significant divergence between Asturcón and Pottoka, besides the genetic distance calculated between both populations is very lower compared to their relation with PSI.Para el estudio de la variabilidad genética de tres poblaciones diferentes de caballos, Asturcón, Pottoka y Pura Sangre Inglés (PSI), habiéndose constituido esta última como población de referencia, se ha analizado la distribución de las frecuencias alélicas de 10 STR (Short Tandem Repeat) loci equinos. La variabilidad genética encontrada en las razas de ponis es superior a la del PSI y solo uno de los loci analizados se desvía significativamente del equilibrio Hardy- Weinberg (=0,01) en las poblaciones de Asturcón y Pottoka. El valor FST estimado (0,054) muestra una divergencia significativa entre Asturcón y Pottoka, asimismo la distancia genética calculada entre ambas poblaciones es inferior comparada a la que tienen ambas con respecto al PSI

Different phenotypes of neuropsychiatric systemic lupus erythematosus are related to a distinct pattern of structural changes on brain MRI

Objectives The underlying structural brain correlates of neuropsychiatric involvement in systemic lupus erythematosus (NPSLE) remain unclear, thus hindering correct diagnosis. We compared brain tissue volumes between a clinically well-defined cohort of patients with NPSLE and SLE patients with neuropsychiatric syndromes not attributed to SLE (non-NPSLE). Within the NPSLE patients, we also examined differences between patients with two distinct disease phenotypes: ischemic and inflammatory. Methods In this prospective (May 2007 to April 2015) cohort study, we included 38 NPSLE patients (26 inflammatory and 12 ischemic) and 117 non-NPSLE patients. All patients underwent a 3-T brain MRI scan that was used to automatically determine white matter, grey matter, white matter hyperintensities (WMH) and total brain volumes. Group differences in brain tissue volumes were studied with linear regression analyses corrected for age, gender, and total intracranial volume and expressed as B values and 95% confidence intervals. Results NPSLE patients showed higher WMH volume compared to non-NPSLE patients (p = 0.004). NPSLE inflammatory patients showed lower total brain (p = 0.014) and white matter volumes (p = 0.020), and higher WMH volume (p = 0.002) compared to non-NPSLE patients. Additionally, NPSLE inflammatory patients showed lower white matter (p = 0.020) and total brain volumes (p = 0.038) compared to NPSLE ischemic patients. Conclusion We showed that different phenotypes of NPSLE were related to distinct patterns of underlying structural brain MRI changes. Especially the inflammatory phenotype of NPSLE was associated with the most pronounced brain volume changes, which might facilitate the diagnostic process in SLE patients with neuropsychiatric symptoms.Neuro Imaging Researc

A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn’s disease

Abstract: Genome-wide association studies (GWASs) have identified a number of genetic risk loci associated with systemic sclerosis (SSc) and Crohn’s disease (CD), some of which confer susceptibility to both diseases. In order to identify new risk loci shared between these two immune-mediated disorders, we performed a cross-disease meta-analysis including GWAS data from 5,734 SSc patients, 4,588 CD patients and 14,568 controls of European origin. We identified 4 new loci shared between SSc and CD, IL12RB2, IRF1/SLC22A5, STAT3 and an intergenic locus at 6p21.31. Pleiotropic variants within these loci showed opposite allelic effects in the two analysed diseases and all of them showed a significant effect on gene expression. In addition, an enrichment in the IL-12 family and type I interferon signaling pathways was observed among the set of SSc-CD common genetic risk loci. In conclusion, through the first cross-disease meta-analysis of SSc and CD, we identified genetic variants with pleiotropic effects on two clinically distinct immune-mediated disorders. The fact that all these pleiotropic SNPs have opposite allelic effects in SSc and CD reveals the complexity of the molecular mechanisms by which polymorphisms affect diseases

Laboratory and Neuroimaging Biomarkers in Neuropsychiatric Systemic Lupus Erythematosus: Where Do We Stand, Where To Go?

Neuro Imaging Researc

Demyelinating disease in SLE: Is it multiple sclerosis or lupus?

Among the 12 systemic lupus erythematosus (SLE)-related central nervous system (CNS) syndromes defined by the American College of Rheumatology (ACR), demyelinating syndrome and myelopathy are two of the less prevalent and more poorly understood ones. One important issue concerning demyelinating disease in SLE is that it can be easily misdiagnosed with other central nervous system demyelinating disorders such as multiple sclerosis (MS). A clinically isolated neurological syndrome can be the presenting feature before other concomitant symptoms of SLE appear or definite MS is diagnosed. Although challenging, some diagnostic tests used in clinical practice and research may help to differentiate between these entities. These tests have improved the understanding of the pathogenesis in these diseases, but some points, such as the role of antiphospholipid antibodies in SLE-associated transverse myelitis, remain unclear and are a matter of ongoing debate. This review discusses clinical, pathophysiological, radiological and therapeutic concepts of demyelinating disease of the CNS in SLE, focussing on its differentiation from MS and its relation with other CNS demyelinating processes, such as transverse myelitis, optic neuritis and neuromyelitis optica.Pathophysiology and treatment of rheumatic disease

Cardiovascular risk assessment according to a national calibrated score risk index in psoriatic arthritis patients without clinically evident cardiovascular disease or classic atherosclerosis risk factors

Pathophysiology and treatment of rheumatic disease

White Matter Magnetization Transfer Ratio Histogram Peak Height Helps Identifying Inflammatory Neuropsychiatric Systemic Lupus Erythematosus

Development and application of statistical models for medical scientific researc

White Matter Magnetization Transfer Ratio Histogram Peak Height Helps Identifying Inflammatory Neuropsychiatric Systemic Lupus Erythematosus

Development and application of statistical models for medical scientific researc