Predict long-term disease worsening and the removal of biosimilar medication in patients with rheumatic diseases.
Observational, retrospective descriptive study. Review of a database of patients with ...immune-mediated inflammatory rheumatic diseases who switched from a biological drug (biosimilar or non-biosimilar) to a biosimilar drug for at least 6 months. We selected the most important variables, from 18 variables, using mutual information tests. As patients with disease worsening are a minority, it is very difficult to make models with conventional machine learning techniques, where the best models would always be trivial. For this reason, we computed different types of imbalanced machine learning models, choosing those with better f1-score and mean ROC AUC.
We computed the best-imbalanced machine learning models to predict disease worsening and the removal of the biosimilar, with f1-scores of 0.52 and 0.63, respectively. Both models are decision trees. In the first one, two important factors are switching of biosimilar and age, and in the second, the relevant variables are optimization and the value of the initial PCR.
Biosimilar drugs do not always work well for rheumatic diseases. We obtain two imbalanced machine learning models to detect those cases, where the drug should be removed or where the activity of the disease increases from low to high. In our decision trees appear not previously studied variables, such as age, switching, or optimization.
Studies addressing the prevalence of cardiac amyloidosis (CA) among patients with spinal stenosis (SS) are lacking. The identification of the red flags (RF) of CA could lead to early detection of ...cases of CA. The primary objective of this study was to address the prevalence of RF of CA among patients with SS.
Transversal study including consecutive cases with SS and yellow ligament hypertrophy (YLH). A clinical assessment that included electrocardiogram, echocardiogram and urine and blood test was performed. A clinical suspicion of CA was defined by the presence of left ventricular hypertrophy plus any RF.
One hundred and three patients with SS and YLH were assessed. The prevalence of RF was high: heart failure: 18.4%; aortic stenosis: 1.9%; carpal tunnel syndrome: 7.8%; bicipital tendon rupture: 1.9%; arterial hypotension: 17.4%; polyneuropathy symptoms: 51.5%; pseudoinfarction pattern: 3.9%; low voltages: 15.5%; conduction abnormalities: 15.5%; decreased longitudinal strain: 25.3%; apical sparing pattern: 3.9%. The 57.3% of the cohort met the CA suspicion criteria.
The prevalence of RF of CA is high among patients with SS and YLH. A high proportion of patients met the CA suspicion criteria.
Vaspin is a novel anti-inflammatory adipokine associated with cardiovascular (CV) disease and inflammation in chronic inflammatory conditions different from axial spondyloarthritis (axSpA). Given the ...high incidence of CV disease (mainly due to accelerated atherosclerosis) exhibited by axSpA patients, we wondered if vaspin could also be a key molecule in this process. However, data on the role of vaspin regarding atherosclerotic disease in the context of axSpA is scarce. For this reason, we aimed to evaluate the implication of vaspin, at the genetic and serological level, in subclinical atherosclerosis and CV risk in axSpA.
This study included 510 patients diagnosed with axSpA. Carotid ultrasound (US) was performed to evaluate the presence of subclinical atherosclerosis. Three vaspin gene variants (rs2236242, rs7159023, and rs35262691) were genotyped by TaqMan probes. Serum vaspin levels were assessed by enzyme-linked immunosorbent assay. Statistical analysis was performed using STATA® v.11.1.
Serum vaspin levels were significantly higher in female patients than in males and also in obese patients when compared to those with normal weight (p < 0.05). At the genetic level, we disclosed that the minor allele of rs2236242 (A) was associated with lower serum vaspin levels in axSpA, while the rs7159023 minor allele (A) was linked to higher serum levels (p < 0.05). When the three polymorphisms assessed were combined conforming haplotypes, we disclosed that the TGC haplotype related to high serum levels of vaspin (p = 0.01). However, no statistically significant association was observed between vaspin and markers of subclinical atherosclerosis, both at the genetic and serological level.
Our results revealed that vaspin is linked to CV risk factors that may influence on the atherosclerotic process in axSpA. Additionally, we disclosed that serum vaspin concentration is genetically modulated in a large cohort of patients with axSpA.
Introduction
Patients with axial spondyloarthritis (axSpA) have a high disease burden mainly due to the rheumatic disease itself, and also exhibit accelerated atherosclerosis, that leads to a higher ...incidence of cardiovascular (CV) disease. Accordingly, the identification of biomarkers of CV risk and inflammation in axSpA patients is clinically relevant. In this sense, given the beneficial functions exerted by the adipomyokine irisin in processes related to CV disease and inflammation, our aim was to assess, for the first time, the role of irisin as a genetic and serological biomarker of subclinical atherosclerosis, CV risk and disease severity in axSpA patients.
Methods
A large cohort of 725 Spanish patients with axSpA was included. Subclinical atherosclerosis (presence of plaques and abnormal carotid intima-media thickness values) was evaluated by carotid ultrasound. Four
irisin
polymorphisms (rs16835198 G/T, rs3480 A/G, rs726344 G/A, and rs1570569 G/T) were genotyped by TaqMan probes. Additionally, serum irisin levels were determined by ELISA.
Results
Low irisin levels were linked to the presence of plaques (p=0.002) and atherogenic index values ≥4 (p=0.01). Serum irisin were positively correlated with C-peptide levels (p<0.001) and negatively correlated with visual analogue scale and Bath Ankylosing Spondylitis Metrology Index (p<0.05 in all the cases). Moreover, lower irisin levels were observed in patients with sacroiliitis and in those with a negative HLA-B27 status (p<0.001 and p=0.006, respectively), as well as in those treated with non-steroidal anti-inflammatory drugs and conventional disease-modifying antirheumatic drugs (p<0.001 and p=0.002, respectively). Interestingly, the TT genotype and the T allele of rs16835198 were less frequent in axSpA patients with ASDAS >2.1 (Odds Ratio (OR): 0.48 0.28-0.83 and OR: 0.73 0.57-0.92, respectively, p=0.01 in both cases). Additionally, the frequency of rs1570569 T allele was higher in these patients (OR: 1.46 1.08-1.97, p=0.01). Furthermore, the GGGT haplotype was more frequent in patients with ASDAS values >2.1 (OR: 1.73 1.13-2.66, p=0.01).
Conclusions
Our results indicate that low serum irisin levels could be indicators of the presence of subclinical atherosclerosis, high CV risk and more severe disease in axSpA patients. In addition,
irisin
may also constitute a genetic biomarker of disease activity in axSpA.
Cardiovascular (CV) disease is the main cause of mortality in axial spondyloarthritis (axSpA). CV risk is enhanced by dysregulation of adipokines. Low omentin levels were associated with metabolic ...dysfunction and CV disease in conditions different from axSpA. Accordingly, we evaluated the genetic and functional implication of omentin in CV risk and subclinical atherosclerosis in a cohort of 385 axSpA patients. Subclinical atherosclerosis was evaluated by carotid ultrasound. Omentin rs12409609, in linkage disequilibrium with a polymorphism associated with CV risk, was genotyped in 385 patients and 84 controls. Serum omentin levels were also determined. omentin mRNA expression was assessed in a subgroup of individuals. Serum and mRNA omentin levels were lower in axSpA compared to controls. Low serum omentin levels were related to male sex, obesity, inflammatory bowel disease (IBD) and high atherogenic index. rs12409609 minor allele was associated with low omentin mRNA expression in axSpA. No association was observed with subclinical atherosclerosis at the genetic or functional level. In conclusion, in our study low omentin serum levels were associated with CV risk factors in axSpA. Furthermore, rs12409609 minor allele may be downregulating the expression of omentin. These data support a role of omentin as a CV risk biomarker in axSpA.
Abstract
Objective
The aim was to assess clinical improvement after US-guided injection of CSs into the SI joint of patients with SpA.
Methods
This was an observational, descriptive, retrospective ...study of patients with SpA and sacroiliitis who received an US-guided injection into the SI joint between 1 June 2020 and 31 May 2021. Means were compared using Student’s paired t-test for the variables visual analog scale (VAS), BASDAI, ASDAS, CRP and ESR before and after the procedure. We evaluated the association between these variables and the clinical response using the odds ratio.
Results
We analysed 32 patients with SpA age 42.69 (8.19) years; female sex, 56.25%, with a VAS score of 7.88 (0.79), BASDAI of 5.43 (1.48) and ASDAS of 3.27 (0.86) before the procedure. At 2–3 months, 75% of patients had improved: VAS 3.81 (2.33) (−4.07, P < 0.0001) and BASDAI 3.24 (1.6) (−2.19, P < 0.0001). At 5–6 months, 59.37% had improved: VAS 4.63 (2.31) (−3.25, P < 0.0001), BASDAI 3.57 (1.67) (−1.86, P < 0.0001) and ASDAS 2.27 (0.71) (−1.0, P < 0.0001). Bone marrow oedema resolved in 87.5% of cases compared with the previous MRI scan. No significant association was identified with the clinical response to the injection.
Conclusion
US-guided injection of CSs into the SI joint of patients with SpA and active sacroiliitis leads to an improvement in symptoms that is maintained at 5–6 months. The procedure is effective, safe, inexpensive and easy to apply.
It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase.
Severe virilization, peripheral hypertension, and early ...puberty.
Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control of physical changes and levels of arterial tension.
According to the phenotypic characteristics of the patient, it is inferred that the
mutation carries an additional burden on the
mutation, with the latter previously described as a cause of 11-beta-hydroxylase deficiency. The description of a new genotype, as in this case, expands the understanding of the hereditary burden and deciphers the various factors that lead to this pathology as well as the other forms of congenital adrenal hyperplasia (CAH), presenting with a broad spectrum of clinical presentations. This study highlights the importance of a complete description of the patient's CAH genetic profile as well as their parents' genetic profile.
Background:
Axial spondyloarthritis (axSpA) patients are known to have a higher prevalence of several comorbidities, including, among others, an increased risk of atherosclerosis, hypertension, ...dyslipidemia, and diabetes. The purpose of the present study was to determine whether the sum of traditional cardiovascular (CV) risk factors is related to disease characteristics, such as disease activity, in patients with axSpA.
Methods:
A cross-sectional study that encompassed 804 patients with axSpA was conducted. Patients were assessed for the presence of five traditional CV risk factors (diabetes mellitus, dyslipidemia, hypertension, obesity, and smoking status), and disease activity measurements. A multivariable regression analysis was performed to evaluate whether the number of classic CV risk factors was independently associated with specific features of the disease, to include disease activity.
Results:
A multivariable analysis showed that Ankylosing Spondylitis Disease Activity Score–C reactive protein (ASDAS-CRP) activity score was significantly higher in patients with 1 beta coefficient 0.3 (95% confidence interval (CI) 0.1–0.5), p = 0.001 and ⩾2 beta coefficient 0.5 (95% CI 0.3–0.7), p = 0.000 CV risk factors compared with those without CV risk factors. Similarly, patients with 1 OR 2.00 (95%CI 0.99–4.02), p = 0.053 and ⩾2 OR 3.39 (95%CI 1.82–6.31), p = 0.000 CV risk factors had a higher odds ratio for the presence of high disease activity compared with the zero CV category. The Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) activity score was significantly associated with the number of CV risk factors, being higher in patients with more CV risk factors. These relationships showed a CV risk factor-dependent effect being beta coefficients and ORs higher for the effect of ⩾2 over 1 CV risk factor.
Conclusion:
Among patients with axSpA, as the number of traditional CV risk factors increased, disease activity similarly increases in an independent manner.
Predict the 25 dihydroxy 20 epi vitamin d3 level (low, medium, or high) in spondyloarthritis patients.
Observational, descriptive, and cross-sectional study. We collected information from 115 ...patients. From a total of 32 variables, we selected the most relevant using mutual information tests, and, finally, we estimated two classification models using machine learning.
We obtain an interpretable decision tree and an ensemble maximizing the expected accuracy using Bayesian optimization and 10-fold cross-validation over a preprocessed dataset.
We identify relevant variables not considered in previous research, such as age and post-treatment. We also estimate more flexible and high-capacity models using advanced data science techniques.
•New machine learning techniques to explore the controversial role of vitamin D and activity in spondyloarthritis patients.•Mutual information identifies BASDAI, DAPSA levels, age, and post-treatment as key to vitamin D levels.•An interpretable decision tree model was developed, highlighting the importance of BASDAI, post-treatment and age.•Bayesian optimization best-performing machine learning model was a subspace discriminant ensemble.
The enthesis is one of the target organs in patients with spondyloarthritis (SpA), since inflammation of it, known as enthesitis, can be observed, which in many patients with spondyloarthritis could ...go unnoticed.
To find the relationship between the MASEI index (MAdrid Sonographic Enthesitis Index) in entheses and other indices/serological activity markers (such as BASDAI, DAPSA or ASDAS and ESR, CRP) in spondyloarthritis patients.
Observational, descriptive, and cross-sectional study. Data were collected from patients with SpA who underwent musculoskeletal ultrasound using the MASEI index and who were treated in our clinics from May 2021 to September 2021. As appropriate, the variables evaluated were described using frequency and central tendency/dispersion measures. First, we tested the normality of all the variables using a Shapiro–Wilk test. Then we studied the correlation of parametric and non-parametric numerical variables, using Pearson's and Spearman's coefficients. We used the T-Student, Mann–Whitney U, and chi-square tests for the categorical variables.
We analyzed 24 patients with SpA (with a mean age of 50.50±10.63 years), 8 women and 16 men. The variables have the following average levels: ASDAS 2.35 (±1.09); BASDAI (for those with axial involvement) 4.54 (±2.93); DAPSA (for psoriatic arthritis) 10.98 (±6.85), and total MASEI 19.88 (±14.77). We found a correlation between the total MASEI and the following variables: ASDAS (Pearson coefficient=.696), BASDAI (Spearman coefficient=.823), and DAPSA (Pearson coefficient=.823).
Patients with spondyloarthritis with more significant disease activity measured by ASDAS, BASDAI/DAPSA, and the serological markers of inflammation CRP and ESR present a higher total MASEI than patients who are controlled.
La entesis es uno de los órganos diana en los pacientes con espondiloartritis (EspA), ya que se puede observar una inflamación de esta, conocida como entesitis, que en muchos pacientes con EspA podría pasar desapercibida.
Encontrar la relación entre el índice entesítico MASEI (MAdrid Sonographic Enthesitis Index) y otros índices/marcadores de actividad serológica (como BASDAI, DAPSA, ASDAS, VSG y PCR) en pacientes con EspA.
Estudio observacional, descriptivo y transversal. Se recogieron datos de pacientes con EspA a los que se les realizó ecografía musculoesquelética mediante el índice MASEI y que fueron atendidos en nuestras consultas desde mayo del 2021 hasta septiembre del 2021. Las variables evaluadas se describieron mediante medidas de frecuencia y de tendencia central/dispersión, según correspondía. Primero, probamos la normalidad de todas las variables usando la prueba de Shapiro-Wilk. Luego estudiamos la correlación de variables numéricas paramétricas y no paramétricas, para lo cual utilizamos los coeficientes de Pearson y Spearman. Utilizamos las pruebas T-Student, Mann-Whitney U y chi-cuadrado para las variables categóricas.
Se analizaron 24 pacientes con EspA (con una edad media de 50,50±10,63 años), 8 mujeres y 16 hombres. Las variables tienen los siguientes niveles promedio: ASDAS 2,35 (±1,09), BASDAI (para aquellos con afectación axial) 4,54 (±2,93), DAPSA (para artritis psoriásica) 10,98 (±6,85) y MASEI total 19,88 (±14,77). Hemos encontrado correlación entre el MASEI total y las siguientes variables: ASDAS (coeficiente de Pearson=0,696), BASDAI (coeficiente de Spearman=0,823) y DAPSA (coeficiente de Pearson=0,823).
Los pacientes con EspA con mayor actividad de la enfermedad medida por ASDAS, BASDAI/DAPSA y los marcadores serológicos de inflamación PCR y VSG presentan un MASEI total mayor que los pacientes controlados.
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