Polymorphisms C677T and A1298C of MTHFR Gene: Homocysteine Levels and Prothrombotic Biomarkers in Coronary and Pulmonary Thromboembolic Disease.

The activity of the enzyme methylenetetrahydrofolate reductase (MTHFR) determines homocysteine (Hcy) levels, and polymorphisms in its gene affect the activity of the enzyme. Changes in the enzyme's activity may lead to a higher susceptibility to develop arterial and venous thromboembolic disease. The aim was to analyze the relationship between the C677T and A1298C polymorphisms of MTHFR, Hcy levels, and prothrombotic biomarkers in pulmonary embolism (PE) and acute myocardial ischemia (AMI). Clinical files of patients with thromboembolic diseases having complete data and whose doctor had requested an assay to determine the polymorphisms of the MTHFR gene, Hcy levels, and prothrombotic biomarkers were studied to search for the correlation between mutations of the MTHFR gene and Hcy levels in the different diseases. We included 334 files: 158 were from women and 176 from men (51 [19 SD] years). Sixty-three percent have had thrombosis, 8% AMI, and 31% PE. Patients with thrombosis had elevated frequency of the C677T polymorphism. The CC genotype was higher than the TT genotype ( P = .003) and CT versus the TT ( P = .009). In patients with PE, the CC genotype was higher than the TT genotype ( P = .038). Pulmonary embolism with massive and submassive events had predominant genotypes 677 TT ( P = .003) and the AA 1298 ( P = .017). Elevated Hcy levels in the presence of the T allele in the C677T gene and of the A allele in the A1298C gene are associated with AMI and massive and submassive PE.

Arteria subclavia derecha aberrante en niños examinados en el Instituto Nacional de Cardiología Ignacio Chávez (1992-2012) / Aberrant right subclavian artery in children examined at the National Institute of Cardiology Ignacio Chavez (1992-2012)

Objetivos: Dentro de las malformaciones vasculares de las arterias en el tórax encontramos: 1) doble arco aórtico; 2) arco aórtico derecho y conducto arterioso izquierdo persistente; 3) arteria subclavia derecha aberrante; 4) arteria pulmonar izquierda aberrante, y 5) arteria innominada anómala. Se revisan los pacientes con arteria subclavia derecha aberrante y su manejo. Métodos: Se estudiaron en forma retrospectiva los expedientes de 29 pacientes en edad pediátrica, de enero de 1992 a diciembre 2012, con las siguientes variables: edad de inicio de los síntomas, manifestaciones clínicas, defectos cardiovasculares, método diagnóstico y abordaje quirúrgico. Resultados: El mayor número de pacientes cursó de forma asintomática, únicamente el 31% lo hizo con síntomas durante el primer año de vida, y se llevó a cabo el diagnóstico en un 35% mediante cateterismo. Fue la persistencia del conducto arterioso la cardiopatía más frecuente, con un 13%; el síndrome de Down se encontró en un 21% de los pacientes. El tratamiento más utilizado fue la sección de la arteria subclavia aberrante para la liberación del esófago. Conclusiones: Es importante la sospecha diagnóstica en pacientes con sintomatología durante la alimentación, con trastornos de la deglución con sólidos y, en algunos casos, con disfagia o hasta con dificultad respiratoria. Un número significativo de estos pacientes no son diagnosticados oportunamente, algunos alcanzan la edad adulta sin diagnóstico. El hallazgo de esta malformación ocurre durante los estudios de imagen, cuando se evalúa la aorta o en el estudio del reflujo gastroesofágico, ya que con el trago de bario se aprecia la compresión extrínseca del esófago.

Objectives: Congenital vascular malformations of the major arteries in the chest have been classified into 5 groups: 1) double aortic arch; 2) right aortic arch with left ligament or persistent ductus arteriosus; 3) aberrant subclavian artery; 4) aberrant left pulmonary artery, and 5) anomalous innominate artery. We reviewed the patients with aberrant right subclavian artery and their treatment. Methods: We studied retrospectively the records of 29 patients with aberrant right subclavian artery in childhood, from January 1992 to December 2012, analyzing the following variables: age at onset, clinical manifestations, associated cardiovascular defects, diagnosis and surgical approach method. Results: We found that most patients have an asymptomatic course, only 31% of them course with symptoms during the first year of life, with an incidental diagnosis of 35% during catheterization or other imaging studies. Patent ductus arteriosus was the most frequently associated congenital malformation, with 13%. Down's syndrome was found in 21%. The most common treatment was surgical section of the aberrant subclavian artery to release the esophagus. Conclusions: This vascular abnormality must be suspected in those patients with dysphagia, dyspnea, chest pain during feeding or breathing difficulties. A significant number of patients are not diagnosed in time, some reach adulthood without a diagnosis. This malformation is often found in imaging studies when evaluating the aorta or in a gastroesophageal reflux study, in which the barium bolus reveals the extrinsic compression of the esophagus.

[Prevalence of metabolic syndrome in patients with psoriasis]. / Prevalencia del síndrome metabólico (SM) en pacientes con psoriasis.

BACKGROUND: Psoriasis is a chronic inflammatory disease associated with increased cardiovascular risk. Metabolic syndrome (MS) is a significant predictor of cardiovascular events. OBJECTIVE: To assess the prevalence of MS in a Mexican population with psoriasis. METHODS: A descriptive, case control study was performed, involving a series of 209 patients. Relevant demographic, clinical, anthropometric, and analytic information was obtained from all participants. Metabolic syndrome was diagnosed according to the NCEP-ATPIII criteria. RESULTS: The study included 103 patients with psoriasis and 106 controls. The mean age of the case patients was 48.37 years; 55% were women and 46% were men. Metabolic syndrome was significantly more common in psoriatic patients than in controls (41.7 vs. 20%, odds ratio: 1.738; 95% CI: 1.194-2.531; p < 0.001). We also found a higher frequency of diabetes mellitus (17.3 vs. 6.6%; p = 0.001), alcoholic habits (8.7 vs. 0.9%; p = 0.009), and higher levels of blood pressure (p = 0.002), BMI (p = 0.016), waist circumference (p = 0.008), and triglycerides (p = 0.002). CONCLUSIONS: Psoriatic patients have a higher prevalence of metabolic syndrome, which can favor cardiovascular events.

[Aberrant right subclavian artery in children examined at the National Institute of Cardiology Ignacio Chavez (1992-2012)]. / Arteria subclavia derecha aberrante en niños examinados en el Instituto Nacionalde Cardiología Ignacio Chávez (1992-2012).

OBJECTIVES: Congenital vascular malformations of the major arteries in the chest have been classified into 5 groups: 1) double aortic arch; 2) right aortic arch with left ligament or persistent ductus arteriosus; 3) aberrant subclavian artery; 4) aberrant left pulmonary artery, and 5) anomalous innominate artery. We reviewed the patients with aberrant right subclavian artery and their treatment. METHODS: We studied retrospectively the records of 29 patients with aberrant right subclavian artery in childhood, from January 1992 to December 2012, analyzing the following variables: age at onset, clinical manifestations, associated cardiovascular defects, diagnosis and surgical approach method. RESULTS: We found that most patients have an asymptomatic course, only 31% of them course with symptoms during the first year of life, with an incidental diagnosis of 35% during catheterization or other imaging studies. Patent ductus arteriosus was the most frequently associated congenital malformation, with 13%. Down's syndrome was found in 21%. The most common treatment was surgical section of the aberrant subclavian artery to release the esophagus. CONCLUSIONS: This vascular abnormality must be suspected in those patients with dysphagia, dyspnea, chest pain during feeding or breathing difficulties. A significant number of patients are not diagnosed in time, some reach adulthood without a diagnosis. This malformation is often found in imaging studies when evaluating the aorta or in a gastroesophageal reflux study, in which the barium bolus reveals the extrinsic compression of the esophagus.

The interleukin-1 gene cluster polymorphisms are associated with Takayasu's arteritis in Mexican patients.

Takayasu's arteritis (TA) is a chronic inflammatory arteritis of unknown etiology involving mainly the aorta and its major branches. The interleukin (IL) 1ß and IL-1 receptor antagonist have been playing an important role as regulators of inflammation. We investigated whether the polymorphisms at the IL-1B and IL-1RN gene cluster were associated with the genetic susceptibility to develop TA. We analyzed the IL-1B, IL-1F10.3, and IL-1RN polymorphisms in a sample of 58 TA patients, and 248 clinically healthy unrelated Mexican individuals by 5' exonuclease TaqMan polymerase chain reaction. Polymorphic haplotypes were constructed after linkage disequilibrium analysis. We found increased frequencies of different polymorphisms (C allele and TC genotype of IL-1F10.3; TT genotype of IL-1RN.4; C allele and TC genotype of IL-1RN6.1; G allele of IL-1RN6.2 and haplotypes "1T" and "1C" of IL-RN VNTR and IL-1RN6.1) in the group of TA when compared to healthy controls. On the other hand, decreased frequency of IL-1-511 TC genotype was found in the TA group compared to controls. IL-1B and IL-1RN gene polymorphisms could be involved in the risk of developing TA in the Mexican population. These associations were independent of the affected vessels.

[PET evaluation of inflammatory process in Takayasu's arteritis]. / Determinación de actividad inflamatoria en pacientes con arteritis de Takayasu mediante tomografía por emisión de positrones (PET).

OBJECTIVE: To determine the application of PET in monitoring patients with Takayasu's arteritis (TA) with Inflammatory activiti (IA) and this correlation with established clnical criteria. METHODS: 35 patients diagnosed with TA were enrolled. Determination of erythrocyte sedimentation rate, C -reactive protein, fibrinogen and a complete blood count was performed and clinical criteria of activity were applied. A baseline PET was performed in all patients. Those who were positive for IA received drug treatment. Among the group of active patients, ten were randomized to undergo another PET scan and clinical criteria determination to evaluate inflammatory activity after 6 months of treatment. We compared clinical criteria with PET capacity to determine IA. The results between the initial and final PET were finally compared. RESULTS: Clinical criteria had a sensitvity of 63% and a specificity of 90% to show IA. Sensivity decreased after 6 months of treatment to 27%. DISCUSSION: This is the first prospective study that compares the findings of PET before and after treatment for IA in patients with TA. Clinical criteria lack sensitivity for the detection of IA in the follow-up after treatment. CONCLUSIONS: PET is a diagnostic technique with high sensitivity and specificity for the diagnosis and monitoring of patients with TA and inflammatory activity.

Determinación de actividad inflamatoria en pacientes con arteritis de Takayasu mediante tomografía por emisión de positrones (PET) / PET evaluation of inflammatory process in Takayasu's arteritis

Objetivos: Determinar la aplicación que tiene la tomografía por emisión de positrones en el seguimiento de pacientes con arteritis de Takayasu con actividad inflamatoria y su correlación con los criterios clínicos establecidos. Métodos: Se incluyeron 35 pacientes con diagnóstico de arteritis de Takayasu. Se determinó velocidad de sedimentación globular, proteína C reactiva, biometría hemática, así como, fibrinógeno y se aplicaron los criterios clínicos de actividad. Se realizó tomografía por emisión de positrones basal de los pacientes positivos para actividad inflamatoria, todos recibieron tratamiento farmacológico. De forma aleatoria se incluyó a 10 pacientes que posterior al tratamiento durante seis meses se les realizó un nuevo estudio clínico y una tomografía por emisión de positrones para determinar actividad inflamatoria. Se compararon los criterios clínicos con tomografía por emisión de positrones tanto del estudio basal como el de seguimiento. Resultados: Los criterios clínicos tuvieron una sensibilidad de 63% y especificidad de 90% para demostrar actividad inflamatoria en forma basal. La sensibilidad de los criterios clínicos disminuyó posterior al tratamiento hasta 27%, en donde se observó que pacientes aparentemente inactivos por clínica, continuaban activos por tomografía por emisión de positrones. Discusión: Éste es el primer estudio que compara de manera prospectiva los hallazgos de tomografía por emisión de positrones antes y después del tratamiento para actividad inflamatoria en pacientes con arteritis de Takayasu. Los criterios clínicos carecen de sensibilidad para la detección de actividad inflamatoria en el seguimiento posterior al tratamiento. Conclusiones: El tomografía por emisión de positrones es una técnica de diagnóstico con una alta sensibilidad y especificidad para el diagnóstico y seguimiento de pacientes con arteritis de Takayasu y actividad inflamatoria.

Objective: To determine the application of PET in monitoring patients with Takayasu's arteritis (TA) with inflammatory activity (IA) and its correlation with established clinical criteria. Methods: 35 patients diagnosed with TA were enrolled. Determination of erythrocyte sedimentation rate, C-reactive protein, fibrinogen and a complete blood count was performed and clinical criteria of activity were applied. A baseline PET was performed in all patients. Those who were positive for IA received drug treatment. Among the group of active patients, ten were randomized to undergo another PET scan and clinical criteria determination to evaluate inflammatory activity after 6 months of treatment. We compared clinical criteria with PET capacity to determine IA. The results between the initial and final PET were finally compared. Results: Clinical criteria had a sensitivity of 63% and a specificity of 90% to show IA. Sensitivity decreased after 6 months of treatment to 27%. Discussion: This is the first prospective study that compares the findings of PET before and after treatment for IA in patients with TA. Clinical criteria lack sensitivity for the detection of IA in the follow-up after treatment. Conclusions: PET is a diagnostic technique with high sensitivity and specificity for the diagnosis and monitoring of patients with TA and inflammatory activity.

Altered flow-mediated vasodilatation, low paraoxonase-1 activity, and abnormal high-density lipoprotein subclass distribution in Takayasu's arteritis.

BACKGROUND: Takayasu's arteritis (TA) is an idiopathic chronic inflammatory disease that causes occlusion of large arteries, but little is known about whether affected patients are characterized by endothelial dysfunction, different high-density lipoproteins (HDL) subclasses and paraoxonase-1 (PON1) activity. METHODS AND RESULTS: In the present study, 30 patients with TA, 30 age- and gender-matched volunteers (controls) and 15 patients with essential hypertension were studied. Flow-mediated vasodilation (FMD) and maximal blood flow velocity, assessed in the brachial artery by high-resolution ultrasound, were significantly lower in patients. HDL subclass distribution was determined by polyacrylamide gradient gel electrophoresis. HDL-cholesterol, HDL3b subclass and PON1 activity, assessed spectrophotometrically using phenylacetate as the substrate, were also lower in patients compared with controls. In a multiple regression analysis, the use of prednisone and systolic blood pressure were independent variables that predicted the FMD. CONCLUSIONS: A low FMD, abnormal size distribution of HDLs, and low PON1 activity are observed in TA patients. These abnormalities appear independently and constitute a cluster that may contribute to the vascular dysfunction of TA arteritis.

Fiebre reumática en el quinquenio 1994-1999 en dos hospitales en San Luis Potosí y en México / Rheumatic Fever 1994-1999

Objetivo: Revisar la incidencia de fiebre reumática aguda (FRA) en población abierta. Pacientes y métodos: Estudio retrolectivo, descriptivo, observacional de brotes iniciales y recaídas en un hospital general y en un centro de referencia que atienden población abierta. Resultados: De acuerdo a los criterios de Jones, 67 casos, 39 mujeres y 28 hombres, 58 por ciento con primer brote edad media de 13 años, 42 por ciento con una recurrencia edad media de 26 años, predominio en primavera-invierno, de los criterios mayores dominaron la carditis, la poliartritis en un primer brote y en recurrencia, de los menores la fiebre, las artralgias y el incremento de reactantes de fase aguda, no hubo diferencias entre los hospitales. Se documentó contacto con estreptococo. Válvulas comprometidas: mitral > aórtica > tricúspide. Incidencia del primer brote en el grupo etario > 5 < 20 años 7/1000. Discusión: Aunque ha disminuido la incidencia de FRA, no está erradicada, es problema de salud pública en países en desarrollo. Las fallas en la sospecha clínica, profilaxis y adherencia al tratamiento influyen en esa situación. Se debe reforzar educación para la Salud, diagnóstico temprano y la profilaxis primaria y secundaria.

La valvulopatía del síndrome antifosfolípido primario (SAFP). Estudio ecocardiográfico prospectivo / Primary antiphospholipid Syndrome (PAPS) valvulopathy. Prospective ecocardiographic study

Estudios transversales han mostrado alta prevalencia de valvulopatía en pacientes con síndrome antifosfolípido primario (SAFP). Sin embargo, no se ha estudiado su evolución. Nuestro objetivo fue observar el comportamiento de las lesiones valvulares en el tiempo, en pacientes con SAFP. Se estudiaron 12 pacientes que contaban con ecocardiograma transesofágico (ETE), y se les tomó un segundo ETE con intervalo promedio entre ambos de x:13.5 meses. Fueron 10 mujeres, 2 hombres con edad promedio: 38 años (intervalo 24-65).Dos pacientes tuvieron ETE normal al inicio y al seguimiento. Tuvieron alteraciones valvulares en ambos ETE 10 pacientes (83 por ciento). Las válvulas más afectadas fueron la mitral y la aórtica. En tres casos desaparecieron las nodulaciones, pero en otros casos aparecieron un total de 11 nuevas lesiones, incluyendo engrosamiento, nodulaciones, regurgitación y doble lesión. Un total de 14 lesiones persistió igual. Diez pacientes recibían anticoagulación. Un caso requirió valvuloplastía mitral.Estos datos demuestran que: a) las lesiones valvulares en pacientes con SAFP cambian con el tiempo y pudiendo resolverse, aparecer por primera vez o persistir con cambios durante la evolución; b) la insuficiencia valvular no parece progresar rápidamente pero puede aparecer estenosis; c) no encontramos relación entre el anticoagulación y evolución de la valvulopatía.

El papel del reumatólogo en el uso adecuado del laboratorio: a propósito de anticuerpos antinucleares / The role of rheumatologist in the adequate use of laboratory tests: in connection with antinuclear antibodies

La solicitud de anticuerpos antinucleares (AAN) por técnica de inmunofluorescencia, es muy frecuente y muchas veces sin base clínica adecuada, especialmente cuando la realizan médicos generales o especialistas distintos al reumatológo. Se revisó esta situación en nuestro hospital. De 1806 estudios de anticuerpos antinucleares solicitados, se pudo demostrar positividad en 487 (27 por ciento) y 1319 (73 por ciento) fueron negativos. Se revisaron expediente tratando de relacionar el motivo de la solicitud y los resultados del examen. Se discuten características generales: patrones y especificidad predominantes relacionados con enfermedad reumática generalizada y algunos conceptos de costo-eficiencia a considerar para el uso apropiado del laboratorio