Hemorrhagic Cerebrovascular Disease: An Unusual Presentation of Hyperhomocysteinemia / Accidente cerebrovascular hemorrágico: una inusual presentación de hiperhomocisteinemia / Acidente vascular cerebral hemorrágico: uma apresentação incomum da hiper-homocisteinemia

Introduction: Stroke is a major cause of morbidity and mortality worldwide, with hemorrhagic stroke being the deadliest form of acute stroke. Therefore, the cause of the event should be determined to direct the associated therapy and take preventive measures. Hyperhomocysteinemia has been described as a rare etiology of stroke. Although hyperhomocysteinemia has been associated with venous thrombotic events, altered endothelial function, and procoagulant states, its clinical role in stroke remains controversial. Case description: We present a case of a 60-year-old male patient with primary autoimmune hypothyroidism who presented with dysarthria, facial paresis, and left upper-limb monoparesis after sexual intercourse. A simple skull computed tomography scan showed hyperintensity in the right basal ganglion, indicating an acute hemorrhagic event. Etiological studies were performed, including ambulatory blood pressure monitoring, cerebral angiography, and transthoracic echocardiogram, which ruled out underlying vascular pathology. During follow-up, vitamin B12 deficiency and hyperhomocysteinemia were detected, without other blood biochemical profile alterations. Supplementation was initiated, and homocysteine levels gradually decreased, without new neurological deficits observed during follow-up. Conclusion: Quantification of homocysteine should be considered in patients with a cerebrovascular disease without apparent cause, as documenting hyperhomocysteinemia and correcting its underlying etiology are essential not only for providing appropriate management but also for preventing future events.

Introducción: el accidente cerebrovascular es una causa importante de morbilidad y mortalidad en todo el mundo, y el accidente cerebrovascular hemorrágico es la forma más mortífera de accidente cerebro- vascular agudo. La determinación de la causa del evento es esencial para dirigir la terapia asociada y poder tomar medidas preventivas. La hiperhomocisteinemia se ha descrito como una etiología poco frecuente de accidente cerebrovascular. Aunque esta se ha asociado con eventos trombóticos venosos, disfunción endotelial alterada y estados procoagulantes, sigue siendo controvertido su papel clínico en el accidente cerebrovascular. Descripción del caso: se presenta el caso de un hombre de 60 años con hipotiroidismo autoinmune primario que presentó disartria, paresia facial y monoparesia del miembro superior izquierdo después de un encuentro sexual. Una simple tomografía computarizada de cráneo mostró hipointensidad en la región del ganglio basal derecho, que indicaba un evento hemorrágico agudo. Se realizaron estudios etiológicos, incluyendo monitorización ambulatoria de la presión arterial, angiografía cerebral y ecocardiograma transtorácico, que descartaron patología vascular subyacente. Durante el seguimiento, se detectó deficiencia de vitamina B12 e hiperhomocisteinemia, sin otras alteraciones en el perfil bioquímico sanguíneo. Se inició la suplementación y los niveles de homocisteína disminuyeron gradualmente, sin observar nuevos déficits neurológicos durante el seguimiento. Conclusión: la cuantificación de homocisteína debe ser considerada en casos de enfermedad cerebrovascular sin causa aparente, dado que documentar la hiperhomocisteinemia y corregir su etiología subyacente es esencial no solo para proporcionar un manejo adecuado, sino también para prevenir eventos futuros.

Introdução: o acidente vascular cerebral (AVC) é uma das principais causas de morbidade e mortalidade em todo o mundo, sendo o AVC hemorrágico a forma mais letal de AVC agudo. A determinação da causa do evento é essencial para direcionar a terapia associada e poder tomar medidas preventivas. A hiperhomocisteinemia tem sido descrita como uma etiologia rara de acidente vascular cerebral. Embora a hiper-homocisteinemia tenha sido associada a eventos trombóticos venosos, disfunção endotelial alterada e estados pró-coagulantes, seu papel clínico no AVC permanece controverso. Descrição do caso: apresentamos o caso de um homem de 60 anos com hipotireoidismo autoimune primário que apresentou disartria, paresia facial e monoparesia do membro superior esquerdo após relação sexual. A tomografia computadorizada de crânio mostrou hipointensidade na região do gânglio da base direito, indicando evento hemorrágico agudo. Foram realizados estudos etiológicos, incluindo monitorização ambulatorial da pressão arterial, angiografia cerebral e ecocardiograma transtorácico, que descartaram patologia vascular subjacente. Durante o acompanhamento, foram detectados deficiência de vitamina B12 e hiper-homocistei- nemia, sem outras alterações no perfil bioquímico sanguíneo. A suplementação foi iniciada e os níveis de homocisteína diminuíram gradualmente, sem novos déficits neurológicos observados durante o acompanhamento. Conclusão: a quantificação da homocisteína deve ser considerada em casos de doença vascular cerebral sem causa aparente, pois documentar a hiper-homocisteinemia e corrigir sua etiologia subjacente é essencial não apenas para fornecer manejo adequado, mas também para prevenir eventos futuros.

Pirfenidone alleviates vascular intima injury caused by hyperhomocysteinemia.

OBJECTIVES: Hyperhomocysteinemia (HHcy) can induce vascular inflammatory and oxidative damage and accelerate intimal hyperplasia. This study investigated the protective effect of pirfenidone (PFD) on the recovery process of injured endothelial arteries during HHcy. MATERIALS AND METHODS: Thirty rabbits were randomly separated into three groups: A control group (n=10, standard rabbit chow), a model group (n=10, control diet plus 30 g methionine/kg food), and a PFD group (n=10, model diet plus oral administration of 90 mg/day of PFD). After 14 weeks of arterial injury, histopathological changes were determined. Plasma homocysteine (Hcy) concentrations, lipid profiles and oxidant and antioxidant status were evaluated. Macrophage infiltration was assessed using immunohistochemical staining. RESULTS: PFD supplementation decreased macrophage infiltration of iliac artery significantly without changes in blood lipids and Hcy concentrations. Compared with the model group, PFD restored superoxide dismutase and glutathione peroxidase activities and reduced malondialdehyde and reactive oxygen species levels. A high-methionine diet significantly increased neointimal area and the ratio between neointimal and media area. Systemic administration of PFD inhibited neointimal formation. CONCLUSIONS: PFD can partly alleviate intimal hyperplasia by inhibiting inflammatory and oxidative stress response induced by HHcy during endothelial injury. It may be a potential therapeutic agent for the prevention and treatment of endothelial injury-associated diseases such as atherosclerosis.

Oclusión venosa retiniana en pacientes menores de 50 años. Análisis de factores de riesgo vascular, trombofilia, hallazgos ecográficos carotídeos y etiologías poco frecuentes / Retinal vein occlusion in patients under 50 years. Analysis of vascular risk factors, thrombophilia, carotid ultrasound findings and uncommon aetiologies

Introducción La oclusión venosa retiniana (OVR) se ha relacionado con factores de riesgo vascular y trombofilia. Métodos Se trata de un estudio de cohorte prospectivo de todos los pacientes diagnosticados de OVR y remitidos a una clínica de medicina interna de un hospital universitario terciario durante un período de 10 años. Se analizaron variables clínicas, de laboratorio y ecográficas de troncos supraaórticos y se compararon según la edad. Resultados Se incluyeron unos 309 pacientes diagnosticados de OVR, 25 de ellos menores de 50 años. La prevalencia de hipertensión arterial, dislipidemia, diabetes mellitus, hiperhomocisteinemia y placa carotídea fue significativamente mayor en pacientes > 50 años que en los menores. Sin embargo, la prevalencia de trombofilia hereditaria fue mayor en el grupo más joven (32 vs. 11,4%; p = 0,005). Se observaron enfermedades poco frecuentes relacionadas con la OVR como hepatitis C, talasemia menor, enfermedad de Lyme, vasculitis y perlebitis en pacientes jóvenes sin factores de riesgo vascular. Conclusión Sugerimos realizar un estudio genético de trombofilia en pacientes con OVR menores de 50 años, siendo siempre recomendable un control exhaustivo de los factores de riesgo vascular en todos los pacientes con OVR. Además, sugerimos tener en cuenta las enfermedades poco frecuentes relacionadas con la OVR, especialmente en pacientes jóvenes sin factores de riesgo vascular (AU)

Introduction Retinal vein occlusion (RVO) has been related to vascular risk factors and thrombophilia. Methods This is a prospective cohort study of all patients diagnosed with RVO and referred to an Internal Medicine clinic of a tertiary teaching hospital during a 10-year period. Clinical, laboratory and supra-aortic trunks ultrasound variables were analysed and compared according to age. Results Some 309 patients diagnosed with RVO were included, 25 of them younger than 50 years. The prevalence of high blood pressure, dyslipidaemia, diabetes mellitus, hyperhomocysteinemia, and carotid plaque was significantly higher in patients>50 years than in those below. However, the prevalence of inherited thrombophilia was higher in the younger group (32.0 vs 11.4%; p = 0.005). Uncommon diseases related to RVO such as hepatitis C, thalassemia minor, Lyme disease, vasculitis, and periphlebitis were observed in young patients without vascular risk factors. Conclusion We suggest performing a genetic thrombophilia study in RVO patients younger than 50 years, while an exhaustive control of vascular risk factors is always recommended in all RVO patients. Moreover, we suggest bearing in mind uncommon diseases related to RVO, especially in young patients without vascular risk factors (AU)

Retinal vein occlusion in patients under 50 years. Analysis of vascular risk factors, thrombophilia, carotid ultrasound findings and uncommon aetiologies.

INTRODUTION: Retinal vein occlusion (RVO) has been related to vascular risk factors and thrombophilia. METHODS: This is a prospective cohort study of all patients diagnosed with RVO and referred to an Internal Medicine clinic of a tertiary teaching hospital during a 10-year period. Clinical, laboratory and supra-aortic trunks ultrasound variables were analysed and compared according to age. RESULTS: Some 309 patients diagnosed with RVO were included, 25 of them younger than 50 years. The prevalence of high blood pressure, dyslipidaemia, diabetes mellitus, hyperhomocysteinemia, and carotid plaque was significantly higher in patients >50 years than in those below. However, the prevalence of inherited thrombophilia was higher in the younger group (32.0% vs 11.4%; p = 0.005). Uncommon diseases related to RVO such as hepatitis C, thalassemia minor, Lyme disease, vasculitis, and periphlebitis were observed in young patients without vascular risk factors. CONCLUSION: We suggest performing a genetic thrombophilia study in RVO patients younger than 50 years, while an exhaustive control of vascular risk factors is always recommended in all RVO patients. Moreover, we suggest bearing in mind uncommon diseases related to RVO, especially in young patients without vascular risk factors.

The Role of High Concentrations of Homocysteine for the Development of Fetal Growth Restriction / O papel de altas concentrações de homocisteína para o desenvolvimento da restrição de crescimento fetal

Abstract Objective To assess homocysteine (Hcy) levels in the three trimesters of pregnancy in women with fetal growth restriction (FGR) and to evaluate the role of Hcy as a possible predictor of FGR. Methods A total of 315 singleton pregnant women were included in the present prospective cohort study and were monitored since the 1st trimester of pregnancy before delivery. Newborns were monitored for the first 7 days of life. Patients who had risk factors for FGR were excluded. Fetal growth restriction was defined according to uterine fundal height (< 10 percentile), ultrasound fetometry (< 5 percentile), and anthropometry of newborns (<5 percentile). The concentrations of Hcy were detected at between 10 and 14, between 20 and 24, and between 30 and 34 weeks of pregnancy by enzyme-linked immunosorbent assay (ELISA). Receiver operating characteristics (ROC) curve test and diagnostic odds ratio (DOR) were performed to evaluate the results of ELISA. Results The concentration of Hcy in patients with FGR was 19.65 umol/L at between 10 and 14 weeks, compared with 9.28 umol/L in patients with normal fetal growth (p<0.0001). The optimal cut-off level for Hcy in the 1st trimester of pregnancy was>13.9 umol/L with AUC 0.788, sensitivity of 75%, specificity of 83.6%, and DOR of 15.2. Conclusion Assessment of serum Hcy concentration may be used as a predictor of FGR, with the highest diagnostic utility in the 1st trimester of pregnancy.

Resumo Objetivo Avaliar os níveis de homocisteína (Hcy) em três trimestres da gravidez em mulheres com restrição de crescimento fetal (FGR, na sigla em inglês) e avaliar o papel da Hcy como possível preditor de FGR. Métodos Um total de 315 gestantes solteiras foram incluídas no presente estudo de coorte prospectivo e monitoradas desde o 1° trimestre de gravidez antes do parto. Os recém-nascidos foram acompanhados durante os primeiros 7 dias de vida. Pacientes que apresentam fatores de risco para FGR foram excluídos. A FGR foi definida de acordo com a altura do fundo do útero (< percentil 10), ultrassonografia fetometria (< percentil 5) e antropometria dos recém-nascidos (< percentil 5). As concentrações de Hcy foram detectadas entre 10 e 14, entre 20 e 24 e entre 30 e 34 semanas de gravidez por ensaio de imunoabsorção enzimática (ELISA, na sigla em inglês). O teste da curva das características de operação do receptor (ROC, na sigla em inglês) e a razão de chances de diagnóstico (DOR, na sigla em inglês) foram realizados para avaliar os resultados do ELISA. Resultados A concentração de Hcy em pacientes com FGR foi de 19,65 umol/L entre 10 e 14 semanas, em comparação com 9,28 umol/L em pacientes com crescimento fetal normal (p<0,0001). O nível de corte ideal para Hcy no 1° trimestre da gravidez foi>13,9 umol/L com AUC 0,788, sensibilidade de 75%, especificidade de 83,6%, e DOR 15,2. Conclusão A avaliação da concentração sérica de Hcy pode ser usada como um preditor de FGR, com maior utilidade diagnóstica no 1° trimestre de gravidez.

Late-onset methylmalonic acidemia and homocysteinemia / Acidemia metilmalónica y homocisteinemia de inicio tardío

Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant. Discussion: early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology. (AU)

Introducción: la deficiencia de cobalamina C (Cbl C) es el defecto más común en el metabolismo intracelular de la cobalamina, asociado a acidemia metilmalónica y homocistinuria. Su presentación clínica tardía es heterogénea y puede llevar a un retraso en el diagnóstico. Caso clínico: presentamos el caso de un varón de 45 años con 20 años de evolución de enfermedad renal crónica y paraparesia espástica de reciente diagnóstico, ambos de origen desconocido. Los estudios metabólicos revelaron niveles elevados de homocisteína y ácido metilmalónico en sangre y orina. El estudio genético confirmó el déficit de cobalamina C. Se inició tratamiento con hidroxocobalamina, betaína, carnitina y ácido fólico. El paciente pudo recibir un trasplante renal. Discusión: el establecimiento de un diagnóstico precoz y un tratamiento adecuado mejora la evolución clínica de los pacientes con déficit de Cbl C. La determinación de homocisteína, ácidos orgánicos y otros aminoácidos debe incluirse en el diagnóstico diferencial de los pacientes con síntomas nefrológico-neurológicos sin una etiología clara. (AU)

Late-onset methylmalonic acidemia and homocysteinemia.

INTRODUCTION: Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease and recently diagnosed spastic paraparesis, both of unknown origin. Metabolic studies revealed elevated levels of homocysteine and methylmalonic acid in the blood and urine. A genetic study confirmed cobalamin C deficiency. Treatment with hydroxocobalamin, betaine, carnitine, and folic acid was started. The patient eventually received a kidney transplant. Discussion: early diagnosis and appropriate treatment improve the clinical evolution of patients with Cbl C deficiency. Determination of homocysteine, organic acids, and other amino acids should be included in the differential diagnosis of patients with nephrological-neurological symptoms without a clear etiology.

INTRODUCCIÓN: Introducción: la deficiencia de cobalamina C (Cbl C) es el defecto más común en el metabolismo intracelular de la cobalamina, asociado a acidemia metilmalónica y homocistinuria. Su presentación clínica tardía es heterogénea y puede llevar a un retraso en el diagnóstico. Caso clínico: presentamos el caso de un varón de 45 años con 20 años de evolución de enfermedad renal crónica y paraparesia espástica de reciente diagnóstico, ambos de origen desconocido. Los estudios metabólicos revelaron niveles elevados de homocisteína y ácido metilmalónico en sangre y orina. El estudio genético confirmó el déficit de cobalamina C. Se inició tratamiento con hidroxocobalamina, betaína, carnitina y ácido fólico. El paciente pudo recibir un trasplante renal. Discusión: el establecimiento de un diagnóstico precoz y un tratamiento adecuado mejora la evolución clínica de los pacientes con déficit de Cbl C. La determinación de homocisteína, ácidos orgánicos y otros aminoácidos debe incluirse en el diagnóstico diferencial de los pacientes con síntomas nefrológico-neurológicos sin una etiología clara.

Deficiencia de cobalamina C de inicio temprano: presentación de caso clínico / Early onset cobalamin C deficiency: clinical case presentation

Cobalamin C (CblC) deficiency is an autosomal recessive disorder caused by mutations of the MMACHC gene that results in impaired synthesis of the methylcobalamin and adenosylcobalamin co-factors. This brings an impaired conversion of dietary cobalamin and therefore dysfunction of two key enzymes generating hyperhomocysteinemia, hypometionimemia and methylmalonic aciduria. It is the most common intracellular metabolism disorder of cobalamin. The early clinical form is the most frequent disorder and appears as a multisystemic disease with developmental delay, failure to thrive, and ocular, renal and hematological involvement during the first year of life. The thromboembolic events are associated with small vessel involvement, generating thrombotic microangiopathy responsible for renal involvement and pulmonary thromboembolism. The late-onset form is characterized by leukoencephalopathy, psychiatric disorders, subacute degeneration of the spinal cord, and thromboembolic events of medium to large vessels. The treatment currently available increases the survival of the patient and improves growth, neurological manifestations, biochemical, hematological profile and hydrocephalus. We present the neonatal debut of a case of CblC deficiency that appeared as a multisystem disease with initial neurological, ocular and hematological manifestations. The onset of symptoms was acute, a characteristic that is not frequent in CblC. The patient started treatment early, but in an unsatisfactory fashion, which led to increased neurological deterioration. Due to MRI images performed during the evolution of his condition, a superior and transverse sagittal sinus thrombosis, a rare manifestation of the disease, was observed.

La deficiencia de cobalamina C (CblC) es un defecto autosómico recesivo causado por la mutación del gen MMACHC, que resulta en la síntesis alterada de los cofactores metilcobalamina y adenosilcobalamina. Esto trae aparejado una disfunción de dos enzimas claves, lo cual genera hiperhomocisteinemia, hipometionimemia y aciduria metilmalónica. La presentación clínica de la deficiencia de CblC es heterogénea, y varía desde las formas de inicio temprano graves y potencialmente mortales, hasta los fenotipos más leves de inicio tardío. La forma clínica temprana es la más frecuente y se manifiesta como una enfermedad multisistémica, con restricción del desarrollo, restricción del crecimiento y alteraciones oculares, renales y hematológicas durante el primer año de vida. Las manifestaciones tromboembólicas están asociadas con el compromiso de pequeños vasos, lo que causa microangiopatía trombótica, responsable de compromiso renal y de tromboembolismo pulmonar. La forma tardía se caracteriza por leucoencefalopatía, trastornos psiquiátricos, degeneración subaguda de la médula espinal y eventos tromboembólicos de medianos o grandes vasos. El tratamiento disponible actualmente aumenta la supervivencia de la enfermedad y mejora el crecimiento, las manifestaciones neurológicas, el perfil bioquímico y hematológico y la hidrocefalia. Presentamos el debut neonatal de un caso de deficiencia de CblC que se manifestó con compromiso inicial neurológico, ocular y hematológico. El comienzo de los síntomas fue agudo, característica que no es frecuente en la deficiencia de CblC. El tratamiento se inició tempranamente, pero en forma insatisfactoria, con evolución de deterioro neurológico. En la evolución de su enfermedad en las imágenes de resonancia magnética, se puso de manifiesto trombosis de los senos sagital superior y transversos, una rara manifestación de la deficiencia de CblC.

Níveis plasmáticos de homocisteína em mulheres idosas com úlceras nos pés / Plasma levels of homocystein in women elderly with ulcers in the foot

Introdução: A homocisteína é um amino ácido produzido no fígado e seus níveis elevados apresentam relação com aterosclerose e úlceras. Objetivo: Avaliar os níveis plasmáticos de homocisteína de mulheres idosas com úlceras nos membros inferiores. Métodos: Participaram 40 mulheres idosas, idade média 67,4±6,49 anos, divididas em grupo com úlcera (GU) e controle (GC). A avaliação da presença de úlcera foi realizada por observação, a avaliação da concentração de homocisteína (µmol/L) foi realizada por high performance liquid chromatography (HPLC) e a aferição da pressão arterial foi realizada pelo uso de um esfigmomanômetro aneroide ­ HICO HM 1001. Resultados: Níveis de homocisteína mais elevados para o grupo úlcera 17,69 ± 6,82 versus controle 11,70 ± 1,51. As pressões arteriais sistólica e diastólica não apresentaram diferenças entre os grupos ulcera 134,16±19,28/74,16±11,64 e controle 136,15±16,09/77,69 ± 5,99 respectivamente. Conclusão: Conclui-se que os níveis plasmáticos de homocisteína em mulheres idosas com úlcera estão aumentados.

Introduction: Homocysteine is an amino acid produced in the liver and its elevated levels are related to atherosclerosis and ulcer. Objective: To evaluate the plasma levels of homocysteine of elderly women with ulcers in the lower limbs. Methods: Participated 40 elderly women, mean age 67.4 ± 6.49 years, separated into ulcer (GU) and control (CG) groups. The evaluation of the presence of ulcer was performed by observation, the homocysteine concentration (µmol/L) was evaluated by high performance liquid chromatography (HPLC) and blood pressure was measured using an aneroid sphygmomanometer HICO HM 1001. Results: Higher homocysteine levels for the ulcer group 17.69 ± 6.82 vs control 11.70 ± 1.51. The systolic and diastolic blood pressures did not differences between the ulcer group 134,16±19,28/74,16±11,64 and control group 136,15±16,09/77,69±5,99, respectively. Conclusion: It is concluded that plasma levels of homocysteine in elderly women with ulcer are increased.

Homocisteína y otros factores de riesgo cardiovascular en niños de educación básica primaria del Colegio Distrital Manuel Elkin Patarroyo, Bogotá, D.C.Colombia. Estudio piloto / Homocysteine and other Cardiovascular Risk Factors in Elementary School Children of the School District "Manuel Elkin Patarroyo", Bogota, D.C. - Colombia. Pilot study

Resumen Objetivo. Evaluar los niveles de homocisteína total (tHcy) y su asociación con otros factores de riesgo cardiovascular (FRCV) en niños de educación básica primaria del Colegio Manuel Elkin Patarroyo. Método. Estudio descriptivo en 50 niños de 6 a 12 años, seleccionados mediante muestreo no probabilístico por conveniencia. Se cuantificaron niveles de tHcy, lípidos y glucosa, se midió presión arterial y se tomaron medidas antropométricas. Los estilos de vida se determinaron con formatos validados y se estableció el punto de corte para diagnosticar hiperhomocisteinemia (HHcy) en la población. Resultados. Las niñas presentaron concentraciones mayores de triglicéridos y c-VLDL que los niños (p=0.05). El valor medio de tHcy para la población general fue de 5.0 (±1,15) -imol/L y el punto de corte para HHcy 6.92 Limol/L. Presentaron HHcy 7.7% de las niñas y 12,5% de los niños. Del grupo con HHcy, 20% estaba en sobrepeso, 40% presentaba hipertensión, 20% expresó c-HDL disminuido, 62% tenía un consumo bajo de carne y 80% alta ingesta de hamburguesas, papas fritas y refrescos. Conclusiones. Aunque la HHcy no estuvo asociada con otros FRCV, es necesario implementar programas que permitan modificar estilos de vida inadecuados.

Abstract Objective .To assess levels oftotal homocysteine (tHcy) and its association with other cardiovascular risk factors (CRF) in elementary school children Manuel Elkin Patarroyo College. Methods. Descriptive study in 50 children aged 6 to 12 years, selected through non-probability convenience sampling. Levels of tHcy, lipids and glucose were measured, blood pressure was measured and anthropometric measurements were taken. The lifestyles were determined with validated formats and the cutoff was established to diagnose hyperhomocysteinemia (HHcy) in the population. Results. Girls had higher concentrations of triglycerides and VLDL-c than boys (p = 0.05). The mean tHcy in the general population was 5.0 (± 1.15) Limol/L and the cutoff for HHcy was 6.92 Limol/L. 7.7 % of girls and 12.5 % of the boys had HHcy. Among this group, 20% were overweight, 40% had hypertension, 20% expressed decrease c-HDL, 62% (31) had a low intake of meat, and 80% (4) high intake of hamburger, fries and soda. Conclusion. Although HHcy was not associated with other CVRF, it is necessary to implement programs that allowto modify inappropriate lifestyles.

Comparative case-control study of homocysteine, vitamin B12, and folic acid levels in patients with epilepsy. / Estudio comparativo de los niveles plasmáticos de homocisteína, vitamina B12 y ácido fólico en pacientes epilépticos frente a controles.

INTRODUCTION: Increased blood homocysteine levels are a known cardiovascular risk factor. Epileptic patients on long-term treatment with antiepileptic drugs may present higher homocysteine levels and, consequently, a potential increase in cardiovascular risk. MATERIAL AND METHODS: We conducted an observational case-control study to compare plasma levels of homocysteine, folic acid, and vitamin B12. RESULTS: Our study included a total of 88 subjects: 52 patients with epilepsy and 36 controls. Epileptic patients showed higher homocysteine levels (P=.084) and lower levels of folic acid (P<.05). CONCLUSION: Homocysteine levels should be monitored in epileptic patients on long-term treatment with antiepileptic drugs. We suggest starting specific treatment in patients with high homocysteine levels.

Reacciones de N-homocisteinilación asociadas a hiperhomocisteinemia / N-homocysteinylation reactions related to hyperhomocysteinemia / Reações de N-homocisteinilação associadas a hiper-homocisteinemia

Numerosas evidencias clínicas avalan la asociación entre concentración plasmática elevada de homocisteína (hiperhomocisteinemia) y las enfermedades vasculares oclusivas, tales como la aterosclerosis y la trombosis. La homocisteína reducida (Hcy) y su éster cíclico homocisteína-tiolactona (HTL) serían los principales responsables de los efectos nocivos asociados a la hiperhomocisteinemia. Tanto la Hcy como la HTL pueden interactuar espontáneamente con proteínas, a través de reacciones de S y N-homocisteinilación, respectivamente. Ambos procesos provocan alteraciones proteicas post-traduccionales, e inducen cambios estructurales y funcionales a nivel molecular. En los últimos años ha cobrado interés el conocimiento acerca de la HTL y las consecuencias de concentraciones elevadas de este metabolito sobre la salud humana. En las reacciones de N-homocisteinilación, el grupo carbonilo de la HTL se une al grupo ε-amino de los residuos lisina de las proteínas, con lo que se generan grupos sulfhidrilo libres, susceptibles de participar en reacciones redox. Las proteínas N-homocisteiniladas pueden sufrir plegamiento incorrecto de la molécula y daño oxidativo, y en consecuencia se inducen efectos citotóxicos e inmunogénicos. Se ha establecido que la conversión metabólica de la Hcy en HTL y la N-homocisteinilación de proteínas es uno de los mecanismos involucrados en el desarrollo de patologías asociadas con la hiperhomocisteinemia, tales como las enfermedades cardiovasculares y neurodegenerativas.

Increased plasma homocysteine levels (hyperhomocysteinemia) are associated with occlusive vascular diseases, such as atherosclerosis and thrombosis. Reduced homocysteine (Hcy) and its cyclic ester, homocysteine thiolactone (HTL) would be involved in the detrimental effects associated to hyperhomocysteinemia. These two species, Hcy and HTL can spontaneously react with proteins, through S and N-homocysteinylation process, respectively. Both reactions produce post-translational protein changes, impairing structural and functional features. In recent years, interest has been developed in HTL and its effects on human health. N-homocysteinylation is the reaction between the carboxyl group of HTL and ε-amino group of lysine residues, rendering free sulfhydryl groups able to participate in redox reactions. N-homocysteinylated proteins are prone to misfolding and oxidative damage, inducing cytotoxic and immunogenic effects. Metabolic conversion of Hcy to HTL as well as protein N-homocysteinylation is one of the mechanisms underlying the development of pathologies associated to hyperhomocysteinemia, such as cardiovascular and neurodegenerative diseases.

Numerosas evidências clínicas garantem a associação entre concentração plasmática elevada de homocisteína (hiper-homocisteinemia) e as doenças vasculares oclusivas, tais como a aterosclerose e a trombose. A homocisteína reduzida (Hcy) e seu éster cíclico homocisteína tiolactona (HTL) seriam os principais responsáveis pelos efeitos nocivos associados à hiper-homocisteinemia. Tanto a Hcy quanto a HTL podem interagir espontaneamente com proteínas, através de reações de S e N-homocisteinilação, respectivamente. Ambos os processos provocam alterações proteicas pós-traducionais, induzindo alterações estruturais e funcionais em nível molecular. Nos últimos anos, cobrou interesse o conhecimento acerca da HTL e as consequências de concentrações elevadas deste metabólito sobre a saúde humana. Nas reações de N-homocisteinilação, o grupo carbonila da HTL se une ao grupo ε-amino dos resíduos lisina das proteínas, gerando grupos sulfidrila livres, suscetíveis de participar em reações redox. As proteínas N-homocisteiniladas podem sofrer dobramento incorreto da molécula e dano oxidativo, induzindo efeitos citotóxicos e imunogênicos. Estabeleceu-se que a conversão metabólica da Hcy em HTL e a N-homocisteinilação de proteínas é um dos mecanismos envolvidos no desenvolvimento de patologias associadas com a hiper-homocisteinemia, tais como as doenças cardiovasculares e neurodegenerativas.

Relación entre la hiperhomocisteinemia plasmática y la enfermedad cerebrovascular de pequeños vasos en el servicio de neurología del Hospital Almenara-Essalud, Lima / Relationship between hyperhomocysteinemia and cerebrovascular disease of small vessels in the neurology Department of Hospital Almenara-EsSalud, Lima

Objetivos: las enfermedades cardiovasculares constituyen la principal causa de muerte en el mundo. Se ha identificadoa la hiperhomocisteinemia como uno de los factores de riesgo modificables para ésta enfermedad. El objetivo delestudio es determinar la asociación entre la hiperhomocisteinemia y la enfermedad cerebrovascular (ECV) porenfermedad de pequeños vasos (EPV). Material y Métodos: se incluyeron 101 historias clínicas de pacientes conECV admitidos durante 5 meses de manera consecutiva. Se excluyeron pacientes con ECV cardioembólica. Losinfartos se clasificaron en aquellos debidos a EPV y a otros subtipos de infarto no cardioembólico (NoEPV). Secompararon los niveles medios de homocisteína plasmática entre ambos grupos. Se estudió la relación entre losfactores de riesgo cardiovascular incluida la hiperhomocisteinemia; y la EPV a través de un análisis bivariadoy multivariado para factores de confusión.

Objectives: Hyperhomocysteinemia has been described as a risk factor for coronary disease and ischemic stroke. The aim of this paper is to determine the association between hyperhomocisteinemia and ischemic stroke caused by small vessels disease (SVD) in a group of non-cardioembolic stroke patients. Material and methods: One hundred and one clinical records of stroke patients admitted during 5 months were included. Stroke patients with a cardioembolic etiology were excluded. Stroke was classified into infarctions due to SVD and other non-cardioembolic infarctions (non-SVD) by using Adams criteria. We compared the levels of serum homocysteine between both groups using the “T student” test for independent samples. Bivariate and multivariate analyses for confounding factors were performed.

Associação entre a homocisteína e os polimorfismos do gene da MTHFR em mulheres brasileiras obesas / Association between homocysteine and polymorphisms in MTHFR in Brazilian obese women

Fundamentos: Pesquisas nacionais brasileiras indicam aumento da obesidade e doenças cardiovasculares em mulheres. Objetivo: Determinar a frequência dos polimorfismos 677C>T e 1298A>C do gene da metilenotetra-hidrofolato redutase (MTHFR) em mulheres brasileiras obesas e avaliar sua associação com as concentrações séricas de homocisteína (Hcy),folato e cobalamina, no período após a fortificação das farinhas de trigo e milho com ácido fólico no Brasil. Métodos: Estudo transversal realizado no período de 2008 a 2009, com 133 mulheres obesas. Kits comerciais foramutilizados para realizar análises laboratoriais, incluindo mensuração de lipídeos e glicose por métodos enzimáticos; Hcy total e o folato plasmático, utilizando um imunoensaio competitivo; e cobalamina baseado em quimiluminescência. A genotipagem foi realizada por PCR, seguido por fragmento de restrição enzimática. Resultados: A média de idade dos participantes foi 39,0±4,4 anos e o índice de massa corporal, 32,5±2,1 kg/m². Distribuições dos genótipos encontradas: CC (47%), CT (44%) e TT (9%) para a posição 677 da MTHFR e AA (60%), AC (35%), e CC (5%) para a posição 1298. As concentrações de Hcy correlacionaram-se negativamente com a concentração de folato plasmático no grupo exibindo os genótipos 677CT, 1298AC ou 1298CC (r=0,554, p<0,01). Conclusão: Mulheres brasileiras obesas com genótipos 677TT estudadas apresentaram maiores concentrações de Hcy do que aquelas que apresentaram os genótipos 677CT e 677CC. Além disso, genótipos 1298CC mostraram associação com concentrações de Hcy maiores do que os genótipos 1298AC e 1298AA.

Background: Brazilian national surveys have indicated a rise in obesity and cardiovascular disease in women.Objective: To determine the frequency of 677C>T and 1298A>C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene in obese Brazilian women and to assess the potential association of these polymorphisms with serum concentrations of homocysteine (Hcy), folate and cobalamin after fortification of wheat and corn flour with folic acid in Brazil. Methods: A cross-sectional study was conducted from 2008 to 2009 with 133 obese women. Commercial kits were employed to perform laboratory analyses including measurement of lipids and glucose using enzymatic methods, total Hcy and serum folate using a competitive immunoassay and cobalamin based on chemiluminescence. Genotyping was performed by PCR, followed by restriction fragment lengthpolymorphism analysis. Results: The average age of participants was 39.0±4.4 years and mean body mass index was 32.5±2.1kg/m². The distributions of the genotypeswere CC (47%), CT (44%), and TT (9%) for the position MTHFR 677 and AA (60%), AC (35%), and CC (5%) for the position 1298. Hcy levels correlated negatively with serum folate in the group displaying the 677CT, 1298AC, or 1298CC genotypes (r=-0.554, p<0.01). Conclusion: Our findings suggest that obese Brazilian women with genotypes 677TT have higher Hcy concentrations than those carrying the genotypes 677CT and 677CC. Additionally, genotypes 1298CC are associated with higher Hcy concentrations than genotypes 1298AC and 1298AA.

Homocisteína, polimorfismos MTHFR C677T, A1298C y variables clínico-bioquímicas en población mexicana / Homocysteine, MTHFR C677T and A1298C polymorphisms, and clinical and biochemical variables in the mexican population / Homocisteína, polimorfismos MTHFR C677T, A1298C e variáveis clínico-bioquímicas em população mexicana

El objetivo del trabajo consistió en analizar la relación del nivel sérico de homocisteína (Hcy) con los polimorfismos de la metilentetrahidrofolato reductasa MTHFR C677T y A1298C y variables clínicas y bioquímicas en población mexicana. Se determinó el nivel de Hcy (inmunoensayo) y de polimorfismos (PCR/RFLP) en 102 individuos de la población general. El genotipo 677TT mostró asociación significativa con el peso corporal (r=0,012) y el genotipo 1298CC tuvo tendencia a asociarse con el IMC (r~0,06). Los valores séricos de Hcy en mujeres (51/102) fueron 8,33±1,86 µmol/L y en hombres (51/102) 11,64±4,15 µmol/L. La Hcy mostró asociación positiva con peso corporal (r=0,004) y asociación negativa con Hb y Hto (r=0,001). Se encontró mayor nivel de Hcy en individuos fumadores (r=0,009) y una tendencia hacia hiperhomocisteinemia en alcohólicos y en mujeres menopáusicas. No se evidenció asociación de Hcy con los polimorfismos MTHFR C677T y A1298C, sin embargo, el análisis con el modelo de herencia dominante para el polimorfismo C677T (TT+CT vs. CC) mostró un efecto semidominante (r<0,10). En este estudio, la presencia de los polimorfismos MTHFR C677T y A1298C no representó ser un factor de riesgo significativo para hiperhomocisteinemia, sin embargo, se encontraron diferencias que puntualizan la posible dependencia de los niveles de Hcy en relación con los genotipos modificados con diversos factores ambientales.

The objective of the current work was to analyze the relationship of serum homocysteine (Hcy) with MTHFR C677T and A1298C polymorphisms and clinical and biochemical variables in the Mexican population. Hcy (immunoassay) levels and polymorphism (PCR/RFLP) levels were determined in 102 individuals from the general population. The 677TT genotype showed significant association with body weight (r=0.012) and the 1298CC genotype tended to be associated with BMI (r~0.06). Serum levels of Hcy in women (51/102) were 8.33±1.86 µmol/L and in men (51/102) 11.64± 4.15 µmol/L. The Hcy was positively as-sociated with body weight (r=0.004) and negatively with Hb and Hct (r=0.001). Higher levels of Hcy were found in smokers (r=0.009) and a tendency to hyperhomocysteinemia in alcoholics and in menopausal women. There was no association of Hcy with MTHFR C677T and A1298C polymorphisms, although the analysis with dominant inheritance model for the C677T polymorphism (TT + CT vs. CC) showed a semi-dominant effect (r<0.10). In this study, the presence of MTHFR C677T and A1298C polymorphisms did not represent a significant risk factor for hyperhomocysteinemia; however, those differences may point out the dependence of the relative levels of Hcy modifed genotypes on various environmental factors.

O objetivo deste trabalho foi analisar a relação do nível sérico de homocisteína (Hcy) com os polimorfismos da metilenotetrahidrofolato redutase MTHFR C677T e A1298C e variáveis clínicas e bioquímicas na po-pulação mexicana. Foi determinado o nível de Hcy (imunoensaio) e de polimorfismos (PCR/RFLP) em 102 indivíduos da população geral. O genótipo 677TT mostrou associação significativa com o peso corporal (r =0,012) e o genótipo 1298CC teve tendência a se associar com o IMC (r~0,06). Os níveis séricos de Hcy em mulheres (51/102) foram 8,33±1,86 µmol/L e em homens (51/102) 11,64±4,15 µmol/L. A Hcy mos-trou associação positiva com o peso corporal (r=0,004) e associação negativa com Hb e Hto (r=0,001). Encontraram-se níveis mais elevados de Hcy em fumantes (p=0,009) e uma tendência para hiperhomo-cisteinemia em alcoólatras e em mulheres na menopausa. Nenhuma associação se mostrou entre Hcy e os polimorfismos MTHFR C677T e A1298C, no entanto, a análise com modelo de herança dominante para o polimorfismo C677T (TT+CT vs. CC) mostrou um efeito semidominantes (r<0,10). Neste estudo, a presença dos polimorfismos MTHFR C677T e A1298C não representou ser um fator de risco significativo para a hiper-homocisteinemia, no entanto, foram encontradas diferenças que apontam a possível dependência dos níveis de Hcy relativos aos genótipos modificados com diversos fatores ambientais.

Homocisteína, polimorfismos MTHFR C677T, A1298C y variables clínico-bioquímicas en población mexicana / Homocysteine, MTHFR C677T and A1298C polymorphisms, and clinical and biochemical variables in the mexican population / Homocisteína, polimorfismos MTHFR C677T, A1298C e variáveis clínico-bioquímicas em populaþÒo mexicana

El objetivo del trabajo consistió en analizar la relación del nivel sérico de homocisteína (Hcy) con los polimorfismos de la metilentetrahidrofolato reductasa MTHFR C677T y A1298C y variables clínicas y bioquímicas en población mexicana. Se determinó el nivel de Hcy (inmunoensayo) y de polimorfismos (PCR/RFLP) en 102 individuos de la población general. El genotipo 677TT mostró asociación significativa con el peso corporal (r=0,012) y el genotipo 1298CC tuvo tendencia a asociarse con el IMC (r~0,06). Los valores séricos de Hcy en mujeres (51/102) fueron 8,33±1,86 Amol/L y en hombres (51/102) 11,64±4,15 Amol/L. La Hcy mostró asociación positiva con peso corporal (r=0,004) y asociación negativa con Hb y Hto (r=0,001). Se encontró mayor nivel de Hcy en individuos fumadores (r=0,009) y una tendencia hacia hiperhomocisteinemia en alcohólicos y en mujeres menopáusicas. No se evidenció asociación de Hcy con los polimorfismos MTHFR C677T y A1298C, sin embargo, el análisis con el modelo de herencia dominante para el polimorfismo C677T (TT+CT vs. CC) mostró un efecto semidominante (r<0,10). En este estudio, la presencia de los polimorfismos MTHFR C677T y A1298C no representó ser un factor de riesgo significativo para hiperhomocisteinemia, sin embargo, se encontraron diferencias que puntualizan la posible dependencia de los niveles de Hcy en relación con los genotipos modificados con diversos factores ambientales.(AU)

The objective of the current work was to analyze the relationship of serum homocysteine (Hcy) with MTHFR C677T and A1298C polymorphisms and clinical and biochemical variables in the Mexican population. Hcy (immunoassay) levels and polymorphism (PCR/RFLP) levels were determined in 102 individuals from the general population. The 677TT genotype showed significant association with body weight (r=0.012) and the 1298CC genotype tended to be associated with BMI (r~0.06). Serum levels of Hcy in women (51/102) were 8.33±1.86 Amol/L and in men (51/102) 11.64± 4.15 Amol/L. The Hcy was positively as-sociated with body weight (r=0.004) and negatively with Hb and Hct (r=0.001). Higher levels of Hcy were found in smokers (r=0.009) and a tendency to hyperhomocysteinemia in alcoholics and in menopausal women. There was no association of Hcy with MTHFR C677T and A1298C polymorphisms, although the analysis with dominant inheritance model for the C677T polymorphism (TT + CT vs. CC) showed a semi-dominant effect (r<0.10). In this study, the presence of MTHFR C677T and A1298C polymorphisms did not represent a significant risk factor for hyperhomocysteinemia; however, those differences may point out the dependence of the relative levels of Hcy modifed genotypes on various environmental factors.(AU)

O objetivo deste trabalho foi analisar a relaþÒo do nível sérico de homocisteína (Hcy) com os polimorfismos da metilenotetrahidrofolato redutase MTHFR C677T e A1298C e variáveis clínicas e bioquímicas na po-pulaþÒo mexicana. Foi determinado o nível de Hcy (imunoensaio) e de polimorfismos (PCR/RFLP) em 102 indivíduos da populaþÒo geral. O genótipo 677TT mostrou associaþÒo significativa com o peso corporal (r =0,012) e o genótipo 1298CC teve tendÛncia a se associar com o IMC (r~0,06). Os níveis séricos de Hcy em mulheres (51/102) foram 8,33±1,86 Amol/L e em homens (51/102) 11,64±4,15 Amol/L. A Hcy mos-trou associaþÒo positiva com o peso corporal (r=0,004) e associaþÒo negativa com Hb e Hto (r=0,001). Encontraram-se níveis mais elevados de Hcy em fumantes (p=0,009) e uma tendÛncia para hiperhomo-cisteinemia em alcoólatras e em mulheres na menopausa. Nenhuma associaþÒo se mostrou entre Hcy e os polimorfismos MTHFR C677T e A1298C, no entanto, a análise com modelo de heranþa dominante para o polimorfismo C677T (TT+CT vs. CC) mostrou um efeito semidominantes (r<0,10). Neste estudo, a presenþa dos polimorfismos MTHFR C677T e A1298C nÒo representou ser um fator de risco significativo para a hiper-homocisteinemia, no entanto, foram encontradas diferenþas que apontam a possível dependÛncia dos níveis de Hcy relativos aos genótipos modificados com diversos fatores ambientais.(AU)

Hyperhomocysteinemia in chronic alcoholism: A case with retinal manifestations.

CASE REPORT: An alcoholic patient with loss of vision in his right eye and a peripapillar haemorrhage, who then presented with a venous thrombosis. Blood analysis revealed hyperhomocysteinemia with coagulation parameters within the normal range. In the follow-up he developed a bilateral optic neuropathy. DISCUSSION: An increase in homocysteine levels is common in alcoholics, and it has been considered a vascular risk factor. Folic acid and vitamins B6 and B12 deficiency may lead to hyperhomocysteinemia, as they participate in its metabolism. CONCLUSIONS: When presented with a retinal occlusive disease or ischemic optic neuropathy in young patients, coagulation disorders and elevated levels of homocysteine should be ruled out.

[Alterations in the protein content and dysfunction of high-density lipoproteins from hyperhomocysteinemic mice]. / Alteraciones en el contenido proteico y disfunción de lipoproteínas de alta densidad en ratones hiperhomocisteinémicos.

AIM: The aim of this study was to evaluate the proteic changes in high-density lipoproteins (HDL) induced by methionine-induced hyperhomocysteinemia in mice and its relationship with two of their main antiatherogenic properties. METHODS AND RESULTS: The oral administration of methionine resulted in an elevation (~8 times) in the plasma concentration of homocysteine. Hyperhomocysteinemia was inversely correlated with the plasma concentration of HDL cholesterol and its main protein component of HDL, apolipoprotein (apo) A-I, respectively. The cholesterol efflux in vivo from macrophages to HDL was decreased in hyperhomocysteinemic mice compared with the control mice. However, the reverse cholesterol transport from macrophages to feces remained unchanged. On the other hand, the ability of HDL from hyperhomocysteinemic mice to prevent the oxidative modification of low-density lipoproteins (LDL) was found decreased and associated with a concomitant reduction in the plasma activity of paraoxonase-1 (PON1) and the plasma concentration of apoA-I, and with a relative reduction in the apoA-IV content (~1.5 times) in the hyperhomocysteinemic HDL, respectively. CONCLUSION: The decrease in the ability of HDL from hyperhomocysteinemic mice to prevent LDL from oxidation was associated with a decrease in the apoA-I, PON1 and apoA-IV.

Frequency of MTHFR G1793A polymorphism in individuals with early coronary artery disease: cross-sectional study / Frequencia do polimorfismo MTHFR G1793A em individuos portadores de doenca arteriocoronariana precoce: estudo transversal

CONTEXT AND OBJECTIVE: Atherosclerotic disease is the leading cause of death in Brazil. It is a complex disease and its prevention involves identification and control of risk factors. Moderately increased plasma homocysteine concentration (hyperhomocysteinemia) has been considered to be a risk factor for several vascular diseases. Mutations in the methylenetetrahydrofolate reductase (MTHFR) enzyme, which is involved in homocysteine metabolism, have been investigated as potential vascular disease risk factors. G1793A polymorphism was described in 2002 and there are few studies analyzing its involvement in diseases. The objective of this study was to investigate the prevalence of G1793A polymorphism in subjects with early coronary artery disease (CAD). DESIGN AND SETTING: Cross-sectional study with control group conducted at a private cardiology clinic and a molecular biology laboratory (Universidade do Vale do Itajaí). METHODS: We studied 74 early-onset CAD+ patients and 40 CAD- individuals with normal angiography results. DNA was extracted from blood samples. Molecular data were obtained via PCR/RFLP and agarose gel electrophoresis. RESULTS: The occurrence of G1793A heterozygotes was similar in the control (5%) and test (6.25%) groups, thus showing that in the population studied there was no correlation between the marker and occurrences of early CAD. There was also no association between the polymorphism and the risk factors for atherosclerosis. CONCLUSIONS: The frequency of the 1793A allele in the test group (3.4%) was similar to what was found in the control individuals (2.5%). There was no correlation between G1793A polymorphism and occurrences of early CAD in this population. .

CONTEXTO E OBJETIVO: A doença aterosclerótica é a principal causa de morte no Brasil. Trata-se de doença multifatorial e sua prevenção passa pela identificação e controle dos fatores de risco. A concentração plasmática moderadamente aumentada de homocisteína (hiperhomocisteinemia) tem sido considerada importante fator de risco para várias doenças vasculares. Mutações na enzima metilenotetrahidrofolato redutase (MTHFR), envolvida no metabolismo de homocisteína, têm sido investigadas como fatores de risco para doenças vasculares. O polimorfismo G1793A foi descrito em 2002 e existem poucos estudos sobre sua implicação em doenças. O objetivo do presente trabalho foi verificar a prevalência do polimorfismo MTHFR G1793A em indivíduos portadores de doença arteriocoronariana (DAC) precoce. TIPO DE ESTUDO E LOCAL: Estudo transversal com grupo controle realizado em Clínica Cardiológica Particular e Laboratório de Biologia Molecular (Universidade do Vale do Itajaí). MÉTODOS: Foram estudados 74 pacientes DAC+ precoce e 40 DAC- com resultado angiográfico normal. O DNA foi extraído de amostras de sangue. Dados moleculares foram obtidos através de PCR/RFLP e eletroforese em gel de agarose. RESULTADOS: A ocorrência de heterozigotos G1793A foi similar em ambos os grupos controle (5%) e teste (6,25%), mostrando que na população estudada não existiu correlação entre o marcador e a ocorrência de DAC precoce. Não houve associação entre o polimorfismo e os fatores de risco para aterosclerose. CONCLUSÕES: A frequência do alelo 1793A no grupo teste (3,4%) foi parecida com a encontrada nos indivíduos do controle (2,5%). Não houve correlação entre o polimorfismo G1793A e a ocorrência de DAC precoce ...

Síndrome de Marfan con disección aórtica asociada a tromboembolismo venoso e hiperhomocisteinemia / Marfan syndrome associated with aortic dissection, venous thromboembolism and hyperhomocysteinemia

El síndrome de Marfan es un desorden genético infrecuente, cuyas manifestaciones clínicas afectan a los sistemas cardiovascular, ocular y músculo esquelético, la gravedad de las manifestaciones cardiovasculares son generalmente responsables de la mortalidad de estos pacientes. La enfermedad tromboembólica venosa está íntimamente relacionada con diversos factores de riesgo, congénitos, adquiridos, mixtos o desconocidos. La hiperhomocisteinemia es un factor de riesgo moderado para tromboembolismo venoso. Presentamos el caso de una mujer de 47 años de edad con síndrome de Marfan asociado a disección aórtica tipo A indolora, que simultáneamente padeció trombosis venosa de miembros inferior y superior izquierdos con embolia de pulmón. Al realizar el cribado de trombofilia se constató hiperhomocisteinemia. Con la terapéutica instituida evolucionó favorablemente.

Marfan syndrome is an infrequent genetic disorder of connective tissue whose clinical manifestations mainly affect the cardiovascular, ocular and musculoskeletal systems. Serious cardiovascular manifestations are generally the cause of mortality of Marfan patients. Thromboembolic venous disease is intimately related to different risk factors: inherited, acquired, mixed or unknown; hyperhomocysteinemia is a moderate risk factor for venous thromboembolism. We present the case of a 47-year-old woman with Marfan syndrome associated to a painless type A aortic dissection, who simultaneously suffered venous thromboembolism of left upper and lower limbs with pulmonary embolism. Hyperhomocysteinemia was found through thrombofilia screening. The patient's condition has evolved favorably.