Niña de 14 años que acudió a nuestro Instituto al año de vida por prolapso de pólipo rectal con evacuaciones sanguinolentas. Segunda gesta de una pareja de padre sano y madre afectada con el síndrome de Peutz-Jeghers, al igual que otros familiares por la rama materna. Existe antecedente de aborto en la madre y tiene una hermana menor aparentemente sana. La madre presentó amenaza de parto pretérmino en el séptimo mes que se controló con reposo y medicamentos no especificados. La paciente nació por cesárea a las 41 semanas de edad gestacional, por falta de trabajo de parto. Presentó llanto y respiración espontáneos, APGAR de 8-9, peso 3.800 Kg, talla 51 cm. Fue dada de alta como binomio sano a las 78 horas. El periodo postnatal curso sin complicaciones y su desarrollo neurológico fue normal.
Se evaluaron los efectos producidos por extractos etanólicos preparados con hojas de Genipa americana L. (Ñandypa) sobre el ciclo replicativo celular utilizando el Allium test y fibroblastos de la línea celular NCTC-929. Se midieron el índice mitótico, índice de fases, la duración del ciclo celular y la citoxicidad metabólica respectivamente. Los análisis demostraron que las células tratadas presentan menor índice mitótico, produciéndose una alteración en el ciclo celular. Se registraron puentes intercromosómicos, fragmentos durante las anafases, y cromosomas adelantados y rezagados.
BackgroundPatients with Rheumatoid Arthritis show an increased mortality population due predominantly to cardiovascular complications, which represent up to 50% of deaths. There are CVR scales that include RA as an independent risk factor. Even with constantly revised and updated assessment tools such as Qrisk III and SCOREm, there is still a tendency to underestimate the cardiovascular risk evidenced by asymptomatic atherosclerosis on ultrasound of the carotid vessels in patients previously classified in intermediate or low risk strata.ObjectivesTo determine the cardiovascular risk stratum in adult patients with rheumatoid arthritis to stratify them according to the 2008 Framingham Risk Score, ScoreM and Qrisk III scales and to identify those high-risk patients who developed carotid lesions in ultrasonographic studies.MethodsDescriptive, prospective, cross-sectional study, in a Paraguayan cohort of patients with RA meeting ACR/EULAR2010 criteria. A standardized questionnaire according to the variables included in the Cardiovascular Risk project (PINV15-0346), from the National Sciences and Technology Council (CONACYT), physical examination was made, and carotid ultrasound evaluation by a trained specialist, to evaluate subclinical atherosclerosis. Subclinical atherosclerosis was defined as carotid intima-media thickness (CIMT) >0,9mm and/or presence of carotid plaques. The 2008 Framingham score, QRisk III and modified mSCORE were used for CV risk stratification. Quantitative variables were presented as means and qualitative as frequencies. Chi square test was performed for comparisons between dichotomous variables and t Student for continuous, and p ≤ 0.05 for statistical significance.Kappa coefficient was performed between scales, interpreted as: ≤ 0 as no agreement and 0.01–0.20 as none to slight, 0.21–0.40 as fair, 0.41– 0.60 as moderate, 0.61–0.80 as substantial, and 0.81–1.00 as almost perfect agreement. All patients signed informed consent.Results100 were included, 87% were women, with a mean age of 51±11.3 years and mean disease duration 130.9±102.64 month. 9 (9%), 13 (13%) and 5 (5%) were classified as high risk according to the QriskIII, Framingham 2008 and ScoreM scales respectively.27.14% of patients had subclinical atherosclerosis, exceeding by 14% the high-risk patients according to the Framingham classification, while mSCORE and QriskIII underestimated cardiovascular risk in 22 and 18 individuals, respectively. The kappa coefficient for agreement of high-risk patients according to QRiskIII was 0.593 (moderate concordance) relative to Framingham 2008 while ScoreM had a Kappa coefficient of 0.401 (fair concordance) relative to Framingham 2008.ConclusionIn contrast to the estimation scales frequently used in clinical practice, which have a tendency to underestimate the risk in patients with rheumatoid arthritis, these results show that the cardiovascular risk demonstrated through ultrasonography of the carotid vessels more effectively characterizes high-risk patients.References[1] Myasoedova E, Davis JM, Crowson CS, Gabriel SE. Epidemiology of rheumatoid arthritis: Rheumatoid arthritis and mortality. Curr Rheumatol Rep. 2010;12(5):379–85.[2] González-Gay MA, González-Juanatey C. Enfermedad cardiovascular en artritis reumatoide. Importancia y tratamiento clínico. Reumatol Clin. 2009;5(3):95–7.[3] Peters MJL, Symmons DPM, McCarey D, Dijkmans BAC, Nicola P, Kvien TK, et al. EULAR evidence-based recommendations for cardiovascular risk management in patients with rheumatoid arthritis and other forms of inflammatory arthritis. Ann Rheum Dis. 2010;69(2):325–31.Acknowledgements:NIL.Disclosure of InterestsNone Declared.
Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc) in the Paraguayan population. We included 254 patients with IMIDs (101 SLE, 103 RA, and 50 SSc) and 50 healthy controls. The haplotypes of five genes corresponding to HLA class II genes and their relationship to the IMIDs studied were determined. Note that 84.6% were women, with a mean age of 43.4 ± 14 years. Among the associated HLA alleles, we found the previously identified risk factors in other populations like HLA-DRB1*03:01 and HLA-DRB1*14:02 for RA, as well as new ones not previously identified, such as DPA1*02:01 for SLE and, DB1*02:01 for RA and SSc. In the genetic association analysis, already known associations have been replicated, and unpublished associations have been identified in Paraguayan patients with IMIDs. This is the first genetic association study in Paraguayan patients with IMIDs.
BackgroundSystemic Lupus Erythematosus (SLE) is a complex autoimmune disease characterized by a very heterogeneous clinical picture that makes diagnosis and follow-up of these patients difficult.ObjectivesIdentify correlations between clinical, immunological and genetic biomarkers with clinical manifestations in SLE in Paraguayan patients.MethodsRetrospective study of data from medical records and immunological and genetic studies of patients with SLE from Paraguay. A descriptive analysis was performed based on the type of variable. HLA allele frequency (DPA1, DPB1, DQA1, DQB1, and DRB1) was calculated and univariate logistic regression analysis was performed between each of the explanatory variables and the presence/absence of each of the phenotypes. The odds ratio.(OR), the 95% confidence interval (95%CI), and the p-value were recorded. Associations with a p-value less than 0.05 were considered statistically significant associations.Results104 patients with SLE were included, 86% female with a mean age value of 32.80 ±10.36 years. An association was identified between anti-dsDNA and the presence of the renal phenotype and anti-dsDNA with the absence of the joint and hematological phenotype. The IgM isotype RF was associated with the absence of the renal phenotype. HLA DQB1* 02:02 and HLA DRB1* 07:01 associated with cutaneous phenotype were identified. An association was identified between the age of onset of the disease and the presence of the joint phenotype. No other associations were identified with the other variables studied.Conclusionpossible clinical, immunological and genetic biomarkers of phenotypes have been identified in patients with SLE of Paraguayan origin.References[1]Takvorian S.U, Merola J.F., Costenbader K.H. Cigarette smoking, alcohol consumption and risk of systemic lupus erythematosus Lupus. 2014; 537-544.[2]Barbhaiya M., Tedeschi S.K., Malspeis B., Lu S., Kreps D., Sparks, J.A. et al. Cigarette smoking and the risk of systemic lupus erythematosus, overall and by anti-double stranded DNA antibody subtype, in the Nurses’ Health Study cohorts. Ann Rheum. 2018; 196-202.[3]Barbhaiya M, Lu B, Sparks JA, et al. Influence of Alcohol Consumption on the Risk of Systemic Lupus Erythematosus Among Women in the Nurses’ Health Study Cohorts. Arthritis Care Res (Hoboken). 2017;69(3):384-392.[4]Williams JN, Chang SC, Sinnette C, Malspeis S, Parks CG, Karlson EW, et al. Pesticide exposure and risk of systemic lupus erythematosus in an urban population of predominantly African-American women. Lupus. 2018;27(13):2129-2134.Graph 3.Odds Ratio (OR) of the presence of alleles of HLA DQB1 and HLA DRB1 gene and the development of the different phenotypes analyzed.Table 1.Analysis of association and Odds Ratio (OR) of the presence of autoantibodies and the phenotypic manifestations of those with SLE.Auto antibodiesArticular OR(IC95%);pSkin OR(IC95%);pHematologic OR(IC95%);pKidney OR(IC95%);pAnti-dsDNA0.17 (0.06-0.46)p=0.0010.91 (0.38-2.17)p=0.8380.28 (0.09-0.86)p=0.02749 (15-157)p=0.0001Anti-Sm0.99 (0.28-3.44)p=0.990.64 (0.16-2.48)p=0.520.25 (0.03-2.06)p=0.21.57 (0.51-4.82)p=0.42Anti-Ro0.99 (0.28-3.44)p=0.980.64 (0.16-2.48)p=0.520.25 (0.03-2.06)p=0.191.57 (0.51-4.82)p=0.42Anti-RNP1.76 (0.43-3,15)p=0.7470.54 (0.18-1.65)p=0.2870.38 (0.10-1.43)p=0.151.59 (0.64-3.90)p=0.30RF total1.06 (0.36-3,11)p=0.9060.58 (0.17-1.94)p=0.381.96 (0.64-6.02)p=0.2350.41 (0.15-1.14)p=0.09RF IgG1.06 (0.36-3,11)p=0.9060.58 (0.17-1.94)p=0.381.96 (0.64-6.02)p=0.2350.41 (0.15-1.14)p=0.09RF IgM1.96 (0.62-6,18)p=0.2470.65 (0.16-2.52)p=0.532.46 (0.72-8.32)p=0.140.20 (0.05-0.76)p=0.019anti-dsDNA: anti-double-stranded DNA antibodies, Anti-Sm: Anti-Smith, anti RNP: anti nuclear ribonucleoprotein U1, RF: rheumatoid factor.Acknowledgements:NIL.Disclosure of InterestsNone Declared.
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