Mestizo Patients Research Articles

MDS-423 Characterization of Chromosomal Abnormalities Associated With Poor Prognosis in a Group of Mexican Mestizo Patients Affected With Myelodysplastic Syndrome

MDS-423 Characterization of Chromosomal Abnormalities Associated With Poor Prognosis in a Group of Mexican Mestizo Patients Affected With Myelodysplastic Syndrome

Characterization of Chromosomal Abnormalities Associated With Poor Prognosis in a Group of Mexican Mestizo Patients Affected With Myelodysplastic Syndrome

Characterization of Chromosomal Abnormalities Associated With Poor Prognosis in a Group of Mexican Mestizo Patients Affected With Myelodysplastic Syndrome

Differences in referral path, clinical and radiographic outcomes between seronegative and seropositive rheumatoid arthritis Mexican Mestizo patients: A cohort study

Differences in referral path, clinical and radiographic outcomes between seronegative and seropositive rheumatoid arthritis Mexican Mestizo patients: A cohort study

Predicting the Conversion from Clinically Isolated Syndrome to Multiple Sclerosis in Mexican Mestizo Patients Using Gaussian Naive Bayes Classifier: A Prospective Cohort Study

This study explores the application of the Gaussian Naive Bayes (GNB) classifier to predict the conversion from Clinically Isolated Syndrome (CIS) to Multiple Sclerosis (MS) among Mexican mestizo patients. Utilizing a dataset gathered from the National Institute of Neurology and Neurosurgery in Mexico City, which included patients diagnosed with CIS between 2006 and 2010, we employed a prospective cohort study design. Our approach involved preprocessing the data to handle missing values and scale normalization followed by splitting it into training and testing subsets. The GNB model's performance was assessed through a 5-fold cross-validation, focusing on accuracy, precision, recall, and F1-score. Results demonstrated the model's capability to predict MS conversion with reasonable precision, highlighted by a significant peak in performance metrics in the third fold of the validation. The study addresses a gap in predictive diagnostics for MS within a specific demographic group, providing valuable insights for early intervention strategies. Despite some limitations such as the model's sensitivity to data heterogeneity and the demographic specificity of the cohort, the findings underscore the potential for predictive models in clinical settings. Recommendations for future research include the use of more sophisticated algorithms and broader demographic studies to enhance predictive accuracy and generalizability.

Demographic, Functional, and Risk Factors Characterization in Ecuadorian Mestizo Patients With Microtia: A Retrospective Study.

This paper compares demographic, morphological, functional, and risk factors between isolated and familial forms of microtia in Ecuadorian mestizo patients. The authors did an epidemiological, and retrospective study with 112 patients divided into isolated microtia (n = 91) and familial microtia (n = 21). Patients with syndromic microtia were not included. In isolated microtia, the mean age was 11.80 ± 16.9, and the most prevalent age group was from 5 to 9 years, with 45.0%; males were 58.2%, and 91.2% of patients were born in a city above 2500 meters about sea level. In familial microtia, the mean age was 15.57 ± 17.2. There were no statistically significant differences between the analyzed variables. In isolated microtia, 41.8% of patients had bilateral involvement, 40.7% had grade 1 microtia in the right ear (RE), and grade 1 in the left ear was 47.3%; external auditory canal atresia of RE was present in 62.6%, and in left ear in 31.6%. External auditory canal atresia sidedness was mostly unilateral in both groups. Most patients did not have tags or pits (78% and 81% in RE and 85.7% and 71.4%). Most patients had moderate hearing loss in both ears. The authors found an association between both microtia forms with external auditory canal atresia in RE; only 20% of patients had unilateral auricular tags or pits in both groups. The authors also found a high incidence (18.75%) of familial microtia, which suggests a distinct pathological genetic component than the more prevalent isolated cases. The authors found a high association of microtia cases from the Ecuadorian highlands above 2500 meters about sea level (over 90%). The presence of "social" intake of alcohol during pregnancy showed over twice the chance of having a child born with microtia.

Predicting the conversion from clinically isolated syndrome to multiple sclerosis: An explainable machine learning approach

IntroductionPredicting the conversion of clinically isolated syndrome (CIS) to clinically definite multiple sclerosis (CDMS) is critical to personalizing treatment planning and benefits for patients. The aim of this study is to develop an explainable machine learning (ML) model for predicting this conversion based on demographic, clinical, and imaging data. MethodThe ML model, Extreme Gradient Boosting (XGBoost), was employed on the public dataset of 273 Mexican mestizo CIS patients with 10-year follow-up. The data was divided into a training set for cross-validation and feature selection, and a holdout test set for final testing. Feature importance was determined using the SHapley Additive Explanations library (SHAP). Then, two experiments were conducted to optimize the model's performance by selectively adding variables and selecting the most contributive variables for the final model. ResultsNine variables including age, gender, schooling, motor symptoms, infratentorial and periventricular lesion at imaging, oligoclonal band in cerebrospinal fluid, lesion and symptoms types were significant. The model achieved an accuracy of 83.6 %, AUC of 91.8 %, sensitivity of 83.9 %, and specificity of 83.4 % in cross-validation. In the final testing, the model achieved an accuracy of 78.3 %, AUC of 85.8 %, sensitivity of 75 %, and specificity of 81.1 %. Finally, a web-based demo of the model was created for testing purposes. ConclusionThe model, focusing on feature selection and interpretability, effectively stratifies risk for treatment decisions and disability prevention in MS patients. It provides a numerical risk estimate for CDMS conversion, enhancing transparency in clinical decision-making and aiding in patient care.

Giant stone adhered in the vaginal cavity in a female patient with type 2 diabetes mellitus: a case report

BackgroundBladder lithiasis comprises 5% of urological lithiasis. Large bladder stones associated with vesicovaginal fistulas are rare, and the risk factors are not an isolated process. There are metabolic comorbidities associated with this pathology, including diabetes mellitus.Case presentationA 70-year-old Mestizo patient is presented, reporting dysuria, pollakiuria, and abdominal pain of 4 months of evolution, located in the hypogastric region, also with a sensation of a foreign body in the vaginal introitus. In her pathological history, she presented type 2 diabetes mellitus. A computed tomography scan of the abdomen and pelvis was performed, reporting a tumor lesion in the abdominal wall. Therefore, surgical intervention was performed by cystolithotomy, obtaining a giant stone adhered to the vaginal wall with a size of 10 cm × 12 cm.ConclusionEarly detection of this pathology should be exhaustive in patients with characteristics and comorbidities associated with stone development to avoid possible complications, such as vesicovaginal fistulas.

Local Ancestry at the Major Histocompatibility Complex Region is Not a Major Contributor to Disease Heterogeneity in a Multiethnic Lupus Cohort.

Systemic lupus erythematosus (SLE) is an autoimmune disease resulting in debilitating clinical manifestations that vary in severity by race and ethnicity with a disproportionate burden in African American, Mestizo, and Asian populations compared with populations of European descent. Differences in global and local genetic ancestry may shed light on the underlying mechanisms contributing to these disparities, including increased prevalence of lupus nephritis, younger age of symptom onset, and presence of autoantibodies. A total of 1,139 European, African American, and Mestizos patients with SLE were genotyped using the Affymetrix LAT1 World array. Global ancestry proportions were estimated using ADMIXTURE, and local ancestry was estimated using RFMIXv2.0. We investigated associations between lupus nephritis, age at onset, and autoantibody status with both global and local ancestry proportions within the Major Histocompatibility Complex region. Our results showed small effect sizes that did not meet the threshold for statistical significance for global or local ancestry proportions in either African American or Mestizo patients with SLE who presented with the clinical manifestations of interest compared with those who did not. These findings suggest that local genetic ancestry within the Major Histocompatibility Complex region is not a major contributor to these SLE manifestations among patients with SLE from admixed populations.

Machine Learning Algorithms for Early Prediction of Multiple Sclerosis Progression: A Comparative Study

Multiple Sclerosis (MS) is a chronic autoimmune disease characterized by central nervous system (CNS) degeneration, leading to diverse neurological symptoms. Managing MS poses a challenge due to its unpredictable progression. This study focuses on early prediction of MS progression using machine learning (ML) algorithms, comparing the effectiveness of Random Forest, XGBoost, Decision Tree, and Logistic Regression. Clinical, genetic, and environmental factors were analyzed in a cohort of Mexican mestizo patients recently diagnosed with Clinically Isolated Syndrome (CIS). Data preprocessing addressed missing values, and feature selection tailored to the population’s characteristics was applied. The dataset was split into training and testing sets, maintaining stratification for CDMS and nonCDMS cases. Machine learning models were trained with optimized hyperparameters. Performance evaluation metrics, including accuracy, precision, recall, F1-score, and AUC-ROC, were employed. The Random Forest model exhibited superior performance (AUC: 0.93, accuracy: 87%), outperforming other models. Variable importance analysis identified top predictors, including Periventricular MRI, Age, Infratentorial MRI, and Oligoclonal Bands. The study’s clinical implications highlight ML’s potential in enhancing early MS prognosis, aiding timely interventions. The Random Forest model, with its robust performance, emerges as a valuable tool for identifying patients at risk. While the study contributes to predictive analytics in neurological disorders, limitations include cohort specificity and retrospective data use. Prospective studies and further exploration of data sources are recommended for broader applicability. This research demonstrates the efficacy of ML in early MS progression prediction, providing clinicians with a promising tool for personalized patient care. The findings contribute to advancing predictive healthcare analytics and emphasize the significance of tailored interventions in neurological disorders.

Preservation Rhinoplasty: A New Approach to Mestizo Noses.

The Rhinoplasty Outcome Evaluation (ROE), a Likert-type questionnaire validated in Spanish, was used to assess the level of satisfaction of 14 mestizo patients who underwent preservation rhinoplasty from March to July 2021 at 1 year after their surgery at the Higuereta Clinic in Lima, Peru. The study included 14 patients, three men and 11 women, who underwent preservation rhinoplasty. A presurgical ROE questionnaire was applied, presenting a minimum value of 6, a maximum value of 21, and a mean of 12. When applied 1 year after surgery, the same ROE questionnaire presented a minimum value of 28, a maximum value of 30, and a mean of 30. The variation had a minimum value of 9 and a maximum value of 23, with a mean of 17 (P < 0.001). Preservation rhinoplasty can be successfully implemented in mestizo noses with good aesthetic results.

Modic Changes in Ecuadorian Mestizo Patients: Epidemiology, Clinical Significance, and Role in Chronic Low Back Pain.

Modic changes (MC) are bone marrow lesions seen within a vertebral body on MRI, possibly associated with low back pain (LBP). Though the causes and mechanisms responsible for the formation of MC are still poorly understood, progress is being made in linking his spinal phenotype with disc degeneration and LBP. This paper analyzes the epidemiology, clinical signs, lesions type, and treatment of vertebral discopathy associated with MC in Ecuadorian mestizo patients, comparing MC type I-II changes versus MC type III differences. We performed an epidemiological, observational, cross-sectional study with two cohorts of Mestizo patients collected at "Hospital de los Valles" in Quito, Ecuador, between January 2017 and December 2020; 288 patients diagnosed with degenerative lumbar disc disease plus MC was taken who underwent surgery; 144 with MC type I-II (cohort 1) and 144 with MC type III changes (cohort 2). Cohort 1 was characterized by 68.8% of men with a mean age of 45 years who perform minimal or moderate exercise in 82% of cases. They showed only one level lesion in 88.9% of patients with a pain intensity of 7 or more on the visual analog scale, with three or more months of evolution, in 78.5% of cases of degenerative etiology, mainly between the L5-S1 lesion of the left side. Cohort 2 was 53.5% of women with a mean age of 62. In 81.4% of cases, they perform minimal or moderate exercise. They showed two-level lesions in 45.8% of patients with a pain intensity of 7 or more on the visual analog scale, with three or more months of evolution, in 97.9% of cases of degenerative etiology, mostly between L4-L5 lesions of the left side. In both groups, most patients showed a protruded and lateral hernia. There is a greater predisposition to require surgery for lumbar disc herniation in young men and older women. In addition, surgery at an older age has a higher risk of complications, especially infection.

Association of the STAT4 Gene rs7574865 Polymorphism with IFN-γ Levels in Patients with Systemic Lupus Erythematosus.

STAT4 plays an important role in disease activity in SLE patients. STAT4 particles have the capacity to activate the transcription of genes associated with the production of TH1 and Th17 lymphocytes, with a greater predominance on the production of IFN-γ and IL-17A. The presence of variants in STAT4 genes has a major impact on the generation of autoimmunity. However, there are few studies evaluating the impact of these variants on the production of proinflammatory cytokines such as IFN-γ and IL-17A. Methods-A case-control study was carried out with 206 Mexican mestizo patients residing in Western Mexico with a diagnosis of SLE and a group of 80 patients without autoimmune diseases was captured to determine the cut-off point for high IFN-γ levels. In this study, SLE patients with high IFN-γ levels were considered as cases (cut-off > 15.6 pg/mL), and SLE patients with normal IFN-γ levels were considered as controls (cut-off ≤ 15.6 pg/mL). Disease activity was identified from the systemic lupus erythematosus disease activity index (SLEDAI). For the determination of levels of cytokines IFN-γ, IL-12, and IL17A, commercial ELISA kits were used. Genotyping of STAT4 rs7574865 (G > T) was performed by quantitative polymerase chain reaction (qPCR) using TaqMan probes. Results-The patients with SLE had a median age of 45 years with a range of disease duration from 4 years to 18 years; 45.6% were identified as having disease activity. In this sample, we identified a high IFN-γ prevalence of 35.4%. The levels of IFN-γ were higher in the patients with genotype TT than GG. We found that TT genotype conferred a higher risk of high IFN-γ when compared to the GG and GT genotypes. Conclusions-In this study, we identified that the polymorphic genotype TT of the STAT4 gene rs7574865 polymorphism is associated with increased levels of IFN-γ. However, its strength of association was weak, so complementary studies are needed to evaluate its impact on SLE patients.

Central corneal thickness associations with systemic factors: The Colombian glaucoma study

Abstract Objective: To establish Central Corneal Thickness associations with systemic factors in six cities of Colombia. Methods: A cross-sectional study was conducted in Colombia among hypertensive and diabetic patients. Two thousand sixty-seven subjects older than 50 diagnosed with SH and DM were included. Participants underwent a complete ophthalmic examination, including intraocular pressure (IOP) measurement by Goldmann tonometry, Central Corneal Thickness (CCT), and Blood pressure. The glaucoma diagnosis was confirmed by structural and functional evidence. Results: In multiple regression analysis, a trend of thinner corneal thicknesses was observed, with increasing decades of life, 60 - 69 years (-7.14 microns (μm) p: 0.58), 70- 79 years (-2.05 μm p: 0.38), &gt; 80 years (-7.3 p &lt;0.056) being almost statistically significant only in patients older than 80 years. Female patients had thinner CCT (- 5.04 μm) than male patients. African- Colombian patients had thinner corneas (-9.6 μm) than mestizo patients (P= 0.002). Patients with migraine had thicker CCT (6.83 μm p &lt;0.024) compared with no- migraine patients. Diabetic patients had thicker CCT (3.91 μm) than non-diabetic patients (P= 0.039). Finally, a 0.66 μm increase per mm hg of the systolic pressure (P=0.024) and a 0.99 μm decrease per mm hg of Systolic Perfusion Pressure (P=0.038) was observed, but no association was found between CCT and Systemic Hypertension. Conclusion: Our study highlights the relationship between systemic factors such as age, sex, race, DM, systolic blood pressure, migraine, and systolic perfusion pressure with an ocular biomarker such as CCT

Central corneal thickness associations with systemic factors: The Colombian glaucoma study

Abstract Objective: To establish Central Corneal Thickness associations with systemic factors in six cities of Colombia. Methods: A cross-sectional study was conducted in Colombia among hypertensive and diabetic patients. Two thousand sixty-seven subjects older than 50 diagnosed with SH and DM were included. Participants underwent a complete ophthalmic examination, including intraocular pressure (IOP) measurement by Goldmann tonometry, Central Corneal Thickness (CCT), and Blood pressure. The glaucoma diagnosis was confirmed by structural and functional evidence. Results: In multiple regression analysis, a trend of thinner corneal thicknesses was observed, with increasing decades of life, 60 - 69 years (-7.14 microns (μm) p: 0.58), 70- 79 years (-2.05 μm p: 0.38), &gt; 80 years (-7.3 p &lt;0.056) being almost statistically significant only in patients older than 80 years. Female patients had thinner CCT (- 5.04 μm) than male patients. African- Colombian patients had thinner corneas (-9.6 μm) than mestizo patients (P= 0.002). Patients with migraine had thicker CCT (6.83 μm p &lt;0.024) compared with no- migraine patients. Diabetic patients had thicker CCT (3.91 μm) than non-diabetic patients (P= 0.039). Finally, a 0.66 μm increase per mm hg of the systolic pressure (P=0.024) and a 0.99 μm decrease per mm hg of Systolic Perfusion Pressure (P=0.038) was observed, but no association was found between CCT and Systemic Hypertension. Conclusion: Our study highlights the relationship between systemic factors such as age, sex, race, DM, systolic blood pressure, migraine, and systolic perfusion pressure with an ocular biomarker such as CCT

The SLICC-FI Predicts Damage Accrual in SLE Patients. Data From the Almenara Lupus Cohort.

To evaluate the Systemic Lupus International Collaborating Clinics Frailty Index (SLICC-FI) as a predictor of damage accrual in a primarily Mestizo SLE patient cohort. Patients from a single-center prevalent cohort were included. Damage accrual was defined as the increase in the SLICC/American College of Rheumatology (ACR) damage index (SDI) scores between the baseline and the last visits. The SLICC-FI was measured at baseline. Univariable and multivariable Cox regression models were performed to determine the association between the baseline SLICC-FI (per 0.05 increase) and the increase in the SDI, adjusted for possible confounders. Alternative analyses using negative binomial regression models including the difference between the last and the first SDI as outcome were performed. Of the 265 patients included, 248 (93.6%) were female with mean (SD) age of 35.1 (13.6) years at diagnosis. At baseline, mean (SD) SLE disease duration was 7.3 (6.5) years, SDI was 1.0 (1.2) and the SLICC-FI was 0.22 (0.05). After a mean (SD) of 5.2 (2.2) years of follow-up, the SDI increased in 126 (47.5%) patients, and the final mean (SD) SDI score was 1.7 (1.7). Higher SLICC-FI scores at baseline predicted greater damage accrual in the univariable analysis [Hazard Ratio (HR) =1.38, (CI95% 1.16-1.65); p < 0.001] and in the multivariable model, after adjustment for possible confounders [HR = 1.30 (CI95% 1.02-1.66); p = 0.033]. SLICC-FI predicts the occurrence of damage accrual in a prevalent SLE Latin-American cohort with short or long disease duration, supporting the relevance of this index in the evaluation of SLE patients.

Quality of life of cutaneous leishmaniasis suspected patients in the Ecuadorian Pacific and Amazon regions: a cross sectional study

BackgroundYearly, up to 1 million patients worldwide suffer from cutaneous leishmaniasis (CL). In Ecuador, CL affects an estimated 5000 patients annually. CL leads to reduced Health Related Quality of Life (HRQL) as a result of stigma in the Asian and Mediterranean contexts, but research is lacking for Ecuador. The objective of this study was to explore the influence of CL suspected lesions on the quality of life of patients in the Pacific and Amazon regions.MethodsPatients for this study were included in the Amazonian Napo, Pastaza, and Morona Santiago provinces and the Pacific region of the Pichincha province. Participating centers offered free of charge CL treatment. All patients suspected of CL and referred for a cutaneous smear slide microscopy examination were eligible. This study applied the Skindex-29 questionnaire, a generic tool to measure HRQL in patients with skin diseases. All statistical analysis was done with SPSS Statistics version 28.ResultsThe skindex-29 questionnaire was completed adequately by 279 patients who were included in this study. All patient groups from the Amazon scored significantly (P < 0.01) higher (indicating worse HRQL) on all the dimensions of the Skindex-29 questionnaire than Mestizo patients from the Pacific region. The percentage of patients with health seeking delay of less than a month was significantly (P < 0.01) lower in the Amazon region (38%) than in the Pacific (66%).ConclusionsThe present study revealed that the influence of suspected CL lesions on the HRQL of patients in the Ecuadorian Amazon and Pacific depends on the geographic region more than on patient characteristics such as gender, age, number of lesions, lesion type, location of lesions, health seeking delay, or posterior confirmation of the Leishmania parasite. The health seeking delay in the Amazon might result from a lack of health infrastructure or related stigma. Together, the impaired HRQL and prolonged health seeking delay in the Amazon lead to prolonged suffering and a worse health outcome. Determinants of health seeking delay should be clarified in future studies and CL case finding must be improved. Moreover, HRQL analysis in other CL endemic regions could improve local health management.

P-182 The impact of ethnic differences on embryo morphokinetics and clinical outcomes: the importance of racial admixture

Abstract Study question Can ethnic differences affect embryo morphokinetics and clinical outcomes in a time-lapse imaging (TLI) embryo culture system? Summary answer Embryos from Mestizos develop faster and have a higher implantation rate than those from Caucasian and Asian patients. What is known already Over the past decades, the use of assisted reproductive technology (ART) has made pregnancy possible for many infertile couples. However, certain infertile couples exhaust all forms of ART, without achieving success. Differences in treatment success have been described as varying by race and ethnicity. In fact, it has been reported that ethnicity is a major determinant of ART outcome as indicated by significantly lower live birth rates in some ethnic minority groups, however the precise reason for this fact remains unknown. TLI may allow the identification of morphokinetics events potentially affected by ethnicity, which may impact embryo development and implantation. Study design, size, duration This historical cohort study enrolled 3,304 embryos from 466 patients undergoing ICSI cycles from Feb/2019 to Ago/2021. Female patients were split into groups according to the patient’s ethnicity: (i) Caucasian (356 patients and 2556 embryos), Mestizo (82 patients and 592 embryos), and Asian (156 patients and 28 embryos). Embryos were cultured in a TLI incubation system and morphokinetics factors and clinical outcomes were compared between the groups using generalized linear models followed by Bonferroni post-hoc. Participants/materials, setting, methods Recorded kinetic markers were timing to pronuclei appearance and fading (tPNa and tPNf), timing to two (t2), three (t3), four (t4), five (t5), six (t6), seven (t7), and eight cells (t8), and timing to morulae (tM), start of blastulation (tSB) and blastulation (tB). Durations of second and third cell cycles (cc2 and cc3) and timing to complete synchronous divisions s1, s2, and s3 were calculated. Additionally, the known implantation data score (KIDScore) day-5 was recorded. Main results and the role of chance Embryos derived from Mestizo patients completed several key-point stages faster, followed by Caucasians, while Asiatic embryos were the slower ones. Mestizo presented shorter t6 (54.8 ± 0.92, 52.6 ± 0.20, 51.0 ± 0.42, for Asians, Caucasians, and Mestizos respectively, p &amp;lt; 0.001), t7 (58.4 ± 1.05, 55.4 ± 0.22, 54.1 ± 0.45, for Asians, Caucasians, and Mestizos respectively, p &amp;lt; 0.001), t8 (59.3 ± 1.2, 58.7 ± 0.24, 57.3 ± 0.49, for Asians, Caucasians, and Mestizos respectively, p = 0.019), tM (99.3 ± 2.1, 90.8 ± 0.37, 87.5 ± 0.79, for Asians, Caucasians, and Mestizos respectively, p &amp;lt; 0.001), tsB (106.4 ± 1.9, 101.4.0 ± 0.54, 98.0 ± 1.4, for Asians, Caucasians, and Mestizos respectively, p &amp;lt; 0.001), and tB (109.1 ± 0.31,116.2 ± 2.0, 106.0 ± 0.64, for Asians, Caucasians, and Mestizos respectively, p &amp;lt; 0.001). In addition, the KIDScore-D5 ranked significantly higher for Mestizos, followed by Caucasians, while Asian patients presented the lower KIDScore-D5 (2.9 ± 0.27, 5.3 ± 0.1, 6.3 ± 0.4, p &amp;lt; 0.001). Pregnancy (25.0 ± 4.9, 33.0 ± 13.2, 58.0 ± 11.5, p = 0.038) and implantation rates (30.0 ± 1.2, 16.3 ± 0.4, 50.0 ±1.5, p &amp;lt; 0.001) were also highest among Mestizos, followed by Caucasians, whereas the Asian patients had the lowest rates. Limitations, reasons for caution The retrospective nature of the study and the small sample size may have biased the results. Wider implications of the findings Despite the increasing number of studies investigating the effect of ethnicity on ART outcomes, most of the literature has focused on White, Black and Asians. However, racial admixture has markedly increased, making attempts at strict racial categorisation confusing and out-dated. Apparently, miscegenation benefits embryonic development, which may impact clinical outcomes. Trial registration number Not applicable

The rs1800795 single nucleotide polymorphism in the IL6 gene is not associated with primary open angle glaucoma in Mexican population

PurposeInterleukin-6 (IL-6) is a proinflammatory cytokine with pleiotropic effects which has been related to primary open angle glaucoma (POAG) due to its particular effect of protecting the retinal ganglion cells (RGc) from the apoptosis. Different single nucleotide polymorphisms (SNP) have been associated with POAG. The aim of this study was to determine whether an association between IL-6 rs1800795 (-174 G>C) SNP and a higher risk for POAG is present in western Mexican population. MethodsOne hundred and sixty-five unrelated Mexican mestizo patients with POAG and 108 control subjects were included. Genomic DNA was extracted from leukocytes and purified, followed by genotyping and amplification by polymerase chain reaction (PCR) with Taqman Biosystem probes. Allelic and genotypic diversity was evaluated between cases and control subjects. ResultsThere was no statistically significant association between allele and genotype frequencies, neither with dominant nor recessive genetic association models (p > 0.05). ConclusionEven though there is a role of IL6 in the pathophysiology of POAG, our results ruled out the association between IL-6 and the rs1800795 SNP showing not to be an index of higher risk for POAG in Mexican population.

El polimorfismo de un solo nucleótido rs1800795 en el gen IL6 no está asociado con el glaucoma primario de ángulo abierto en la población mexicana

PurposeInterleukin-6 (IL-6) is a proinflammatory cytokine with pleiotropic effects which has been related to primary open angle glaucoma (POAG) due to its particular effect of protecting the retinal ganglion cells (RGc) from the apoptosis. Different single nucleotide polymorphisms (SNP) have been associated with POAG. The aim of this study was to determine whether an association between IL-6 rs1800795 (−174 G>C) SNP and a higher risk for POAG is present in western Mexican population. MethodsOne hundred and sixty-five unrelated Mexican mestizo patients with POAG and 108 control subjects were included. Genomic DNA was extracted from leukocytes and purified, followed by genotyping and amplification by polymerase chain reaction (PCR) with Taqman Biosystem probes. Allelic and genotypic diversity was evaluated between cases and control subjects. ResultsThere was no statistically significant association between allele and genotype frequencies, neither with dominant nor recessive genetic association models (P>.05). ConclusionEven though there is a role of IL6 in the pathophysiology of POAG, our results ruled out the association between IL-6 and the rs1800795 SNP showing not to be an index of higher risk for POAG in Mexican population.

Multicenter lupus register from Argentina, the RELESSAR database: Influence of ethnicity on disease phenotype.

The objective is to describe the main characteristics of patients with systemic lupus erythematosus (SLE) in Argentina and to examine the influence of ethnicity on the expression of the disease. RELESSAR is a multicentre register carried out by 106 researchers from 67 rheumatologic Argentine centres. It is a cross-sectional study of SLE (1982/1997 ACR) patients. RELESSAR electronic database includes demographic, cumulative SLE manifestations, SELENA-SLEDAI, SLICC-SDI, Katz's severity and Charlson's comorbidity indexes and treatment patterns. We included 1,610 patients, 91.7% were female with a median age at diagnosis of 28.1 ± 12.8; 96.2% met ≥4 ACR 1982/97 criteria. Frequent manifestations were arthritis (83.5%), malar rash (79.5%), photosensitivity (75.3%), haematological (63.8%) and renal disease (47.4%), antinuclear antibodies (96%), anti-dsDNA (66.5%) and anti-Smith antibodies (29%). The mean Selena-SLEDAI score at last visit was 3.18 (SD 4.3) and mean SDI was 1 (SD 1.3). The accumulated treatments most frequently used were antimalarials (90.4%), corticosteroids (90%), azathioprine (31.8%), intravenous cyclophosphamide (30.2%), mycophenolate mofetil or mycophenolic acid (24.5%), methotrexate (19.3%), belimumab 5.3% and rituximab 5.1%. Refractory lupus was diagnosed in 9.3% of the cases. The main causes of death were lupus activity (25.0%), activity and concomitant infections (25.0%), infections (18.2%), vascular disease (13.6%) and cancer (4.5%). Mortality was associated with higher SLEDAI, Katz, damage indexes and comorbidities. Of the 1610 patients included, 44.6% were Caucasian, 44.5% Mestizo, 8.1% Amerindian and 1.2% Afro-Latin American. Mestizo patients had higher male representation, low socioeconomic status, more inadequate medical coverage, fewer formal years of education and shorter disease duration. Polyadenopathies and Raynaud's phenomenon were more frequent in Caucasians. In the logistic regression analysis higher damage index (OR 1.28, CI 95% 1.02-1.61, p = 0.03) remained associated to mestizo ethnicity. This study represents the largest number of adult patients with SLE studied in Argentina. Caucasian patients were differentiated by having Raynaud's phenomenon and polyadenopathy more frequently, while patients of Mestizo origin had higher damage indexes.