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Introduction: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications. Objective: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain. Methods: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 10 Spanish centres. Results: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3 to 6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P = .03), focal deficits (P = .001), and encephalopathy (P 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%. Conclusion: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity. Resumen: Introducción: La trombosis venosa cerebral (TVC) es una causa poco común de ictus que afecta principalmente a adultos jóvenes. Un diagnóstico precoz y preciso puede reducir la tasa y gravedad de las complicaciones. Objetivo: Analizar las características clínicas, manejo y tratamiento de la TVC en diferentes centros de nuestro país. Métodos: Estudio descriptivo retrospectivo multicéntrico de pacientes hospitalizados por TVC entre 2008 y 2017 en 10 centros sanitarios en nuestro país. Resultados: Se incluyeron 256 pacientes, edad media 49,8 ± 18,7 años y el 51% fueron mujeres. Los síntomas más frecuentes fueron: cefalea (73%), déficits focales (50%), crisis epilépticas (33%) y encefalopatía (21%). Las localizaciones más frecuentes fueron: seno longitudinal superior (12,5%), transverso (10,9%) y afectación de dos o más senos o venas (66,4%). La etiología conocida más frecuente fue la trombofilia (24%), siendo la mutación de la protrombina G20210A la más común (19%). El 46% fue tratado con antitrombóticos durante 3-6 meses, el 21% durante 1 año y un 22,6% de los pacientes requirieron anticoagulación indefinida. En un 5% de los sujetos fue preciso terapia endovascular y un 33% requirió neurocirugía. En relación al pronóstico, el 75% fueron independientes a los 3 meses con una puntuación en la escala de Rankin modificada (mRS) ≤ 2 y la presencia de papiledema (p = 0,03), déficit focal (p = 0,001) y encefalopatía (p 3). La tasa de mortalidad intrahospitalaria fue del 4,3% y el 6,3% de los pacientes fallecieron a los 3 meses. Conclusión: La diversidad de factores de riesgo y la presentación variable suponen un desafío en el diagnóstico y tratamiento de la TVC. Para mejorar el pronóstico y reducir la mortalidad es fundamental la instauración de protocolos en el manejo de esta patología.

Introduction. Paradoxical embolism is a thrombotic event originating in the venous circulation, which manifests as arterial embolism through an anatomical cardiac or pulmonary defect. It is mainly associated with stroke, also presenting as acute myocardial infarction, renal infarction, and other ischemic events. Clinical case. A 47-year-old patient was admitted due to abdominal pain, which required emergency surgical management, finding significant intestinal ischemia. Additional studies found protein S deficiency and evidence of a patent foramen ovale. Discussion. Arterial thrombosis is known as unusual thrombosis; this situation requires to rule out associated thrombophilia or other prothrombotic diseases. Protein S deficiency is a rare thrombophilia, which in adults causes venous thrombosis. In the presence of anatomical defects, such as a patent foramen ovale, it can progress to arterial embolism, presenting a picture of paradoxical embolism. The study work of these patients requires imaging that demonstrates the aforementioned defect, as well as the possible origin of the emboli. Management is based on full anticoagulation, treatment of existing thrombotic manifestations, and management of the anatomical defect. Conclusions. Paradoxical embolism should be suspected in case of unusual thrombosis. It requires exhaustive studies based on imaging, and management should consist of anticoagulation and closure of the defect. [ABSTRACT FROM AUTHOR]

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The coagulation system always keeps the blood in a fluid state and is therefore incessantly active throughout life. However, the moment an injury to the vascular system occurs, the coagulation system immediately rotates 180° and transforms the blood into a perfectly localized solid body, which we call a clot. This process, by which a clot forms, is known as hemostasis, which is one of the components of the coagulation system. The importance of the Leiden mutation of factor V is based on the following: coagulation factor V is a protein that is synthesized in the liver and the gene that encodes it is located in region 23 of the long arm of chromosome 1, this factor circulates in peripheral blood inactively until it interacts with activated factor X forming a complex that converts factor II (prothrombin) into thrombin, which will have its action on fibrinogen turning it into fibrin. The regulation of activated factor V is given by the activity of activated protein C, when factor V has a mutation (named Leiden) that is caused by the exchange of an adenine for a guanine in the nucleotide 1691 of factor V (G1691A), which causes arginine to be replaced by a glutamine in the 506 residue of the factor V protein, the resulting protein is an abnormal factor V, which cannot be inactivated by activated protein C, so factor V remains activated and cannot prevent the clotting process from stopping. In our country (considering several conditions) it has been described in various publications of Mexican researchers that Leiden mutations of factor V and G20210A of prothrombin are not frequent, as they are in European countries. [ABSTRACT FROM AUTHOR]

Background Migraine is associated with several genetic or acquired comorbidities. Studies conducted in recent years emphasize that the frequency of thrombophilia is high in migraine, especially migraine with aura (MA). Similarly, the presence of white matter lesions (WMLs) on brain magnetic resonance imaging (MRI) scans has been associated with migraine for many years.

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Introducción. La embolia paradójica es un evento trombótico originado en la circulación venosa, que se manifiesta como embolismo arterial por medio de un defecto anatómico a nivel cardíaco o pulmonar. Se asocia principalmente a eventos cerebrovasculares, aunque se han encontrado casos de infarto agudo de miocardio, infarto renal y otros eventos isquémicos. Caso clínico. Paciente de 47 años, quien consultó por cuadro de dolor abdominal, que requirió manejo quirúrgico de urgencia, donde identificaron isquemia intestinal importante. Los estudios adicionales hallaron déficit de proteína S y persistencia de foramen oval permeable. Resultados. La presencia de trombosis arterial se conoce como trombosis de sitios inusuales y requiere de estudios para descartar trombofilias asociadas u otros estados protrombóticos. El déficit de proteína S es una trombofilia infrecuente, la cual se asocia en la vida adulta a eventos trombóticos de origen venoso. En presencia de defectos anatómicos, como un foramen oval permeable, puede progresar a embolia arterial, configurando un cuadro de embolismo paradójico. La estratificación de estos pacientes requiere imágenes que demuestran el defecto mencionado, así como el posible origen de los émbolos. El manejo se basa en anticoagulación plena, manejo de soporte, resolver las manifestaciones trombóticas existentes y un cierre temprano del defecto anatómico. Conclusiones. El embolismo paradójico debe sospecharse en caso de trombosis de sitios inusuales. Requiere de un estudio exhaustivo con imágenes y su manejo debe basarse en anticoagulación y cierre del defecto.

Introducción: el ataque cerebrovascular isquémico en el adulto joven se define como aquel que ocurre en la población entre los 18 y los 55 años, y representa el 15-18?% de todos los ACV isquémicos. Los factores de riesgo en jóvenes son comunes a los encontrados en adultos mayores. El objetivo de este trabajo es describir las características clínicas y los factores de riesgo de una población menor de 55 años con ACV isquémico atendida en un centro de referencia hospitalario en Colombia. Materiales y métodos: estudio descriptivo, retrospectivo de corte transversal en pacientes entre los 18 y los 55 años; se incluyeron 100 pacientes sobrevivientes a un primer ACV isquémico agudo confirmado por neuroimagen, atendidos entre enero de del 2019 y noviembre del 2021. Resultados: de 1023 pacientes con diagnóstico de ACV isquémico agudo, el 9,8?% fueron adultos jóvenes. La media de edad fue de 45 ± 8,7 años, y el 59?% de estos pacientes fueron hombres. Discusión: los factores de riesgo “tradicionales” se presentan en la mayoría de los jóvenes con ACV isquémico. La hipertensión arterial se mantiene como el antecedente más frecuente. Las mujeres presentan eventos de mayor severidad y peor desenlace funcional. Conclusión: los pacientes mayores de 45 años tienen un perfil de factores de riesgo similar a lo observado en adultos mayores con ACV, mientras que en los menores de 45 años se encuentra un perfil de factores de riesgo diferente que plantea un diagnóstico etiológico particular de esta población.

OBJECTIVE: To characterize clinically and epidemiologically the patients with diagnosis of deep vein thrombosis and their risk of bleeding in a tertiary level institution in the city of Medellin, Colombia. MATERIALS AND METHODS: A cross-sectional, descriptive, observational study was done including patients with a diagnosis of deep vein thrombosis and thromboprophylactic treatment from 2018 to 2019. A non-probabilistic sampling of consecutive cases was performed. RESULTS: There were included 26 patients; the median age was 64.5 years and female sex predominated (22/26). The presence of solid tumor was evidenced in 3 patients; 21 had previous venous thromboembolism and no history of thrombophilia was reported. The main complication was short-term deep venous thrombosis in 11 patients; 11 patients were classified by the IMPROVE Bleeding Risk Score, where a high risk of bleeding was identified in 3 of them. Of the 26 patients studied, 22 were hospitalized in the general ward and 2 died. CONCLUSIONS: Patients diagnosed with deep vein thrombosis and thromboprophylactic therapy may present an important bleeding risk, which should be constantly assessed, as this may have an impact on patient outcomes. [ABSTRACT FROM AUTHOR]

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Vein thrombosis of unusual sites such as the splanchnic region continues to be not only a diagnostic but also a therapeutic challenge for the clinician due to its manifestation and associated pathologies. Latent JAK2 (Janus kinase 2) positive myeloproliferative neoplasm associated with sticky platelet syndrome is unusual. We present a clinical case of a 38-year-old female patient who presented with sudden onset abdominal pain of a possible vascular origin. Splanchnic thrombosis was diagnosed in latent myeloproliferative neoplasm by identifying the JAK2V617F mutation and sticky platelet syndrome via platelet aggregometry. Off-label anticoagulation with rivaroxaban 20 mg/day was administered. During her outpatient follow-up, she did not suffer any new thrombotic episodes. [ABSTRACT FROM AUTHOR]

La trombosis venosa de sitios inusuales como la esplácnica continúa siendo un reto no solo diagnóstico sino también terapéutico para el clínico debido a su forma de presentación y las patologías asociadas. La neoplasia mieloproliferativa latente JAK2 (cinasa de Janus 2) positiva asociada con síndrome de plaqueta pegajosa es inusual. Se presenta un caso clínico de una paciente de 38 años de edad que debutó con dolor abdominal de inicio súbito que sugirió un posible origen vascular. Se diagnosticó trombosis esplácnica en relación con neoplasia mieloproliferativa latente por la identificación de la mutación de la JAK2V617F y síndrome de plaqueta pegajosa mediante agregometría plaquetaria. Se administró de manera off-label anticoagulación con rivaroxabán 20 mg/día. Durante su seguimiento ambulatorio no ha presentado nuevos episodios trombóticos.

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La trombofilia se caracteriza por una injuria de la pared de los vasos sanguíneos, estasis, o cambio en la composición de la sangre, conociéndose como hipercoagulabilidad, siendo esta de causa hereditaria o adquirida. La trombofilia hereditaria es una tendencia genéticamente determinada a desarrollar trombosis. Entre las causas más comunes pueden citarse deficiencias de ciertas proteínas de la coagulación como la An-titrombina, la proteína C, la proteína S, ciertas mutaciones en los factores de la coagulación: Factor V Leiden, Protrombina G20210A, y muta- ciones en la enzima Metiltetrahidrofolatoreductasa (MTHFR), entre otras. Las pérdidas de embarazos ocurren porque en la placenta se generan microtrombos, así como los coágulos que se forman pueden obstruir los vasos sanguíneos y dificultar la adecuada oxigenación. Dada que esta entidad se presenta con frecuencia en las pacientes con pérdida recurrente del embarazo, se presenta el caso de una paciente atendida en el Centro Territorial de Reproducción Asistida de Cienfuegos. Se le realizaron estudios inmunológicos y se diagnosticó una mutación C677T en estado heterocigótico del gen de la enzima metilentetrahidrofolatoreductasa.

Introducción: El tipo de grupo sanguíneo entre otros factores, influye en los niveles plasmáticos del Factor de von Willebrand (FvW), su actividad biológica podría incidir en el desarrollo de eventos trombóticos y hemorrágicos. Objetivo: Describir las características y los mecanismos de reacciones postrasduccionales del grupo sanguíneo que permiten la variación en la concentración plasmática del FvW. Materiales y métodos: Revisión teórico descriptiva de tipo documental. Las bases de datos consultadas fueron Medline, Lilacs, ScienceDirect, Scopus, SciELO, Proquest, Ovid y Pubmed. Como criterio de selección se incluyeron artículos en idioma inglés y español a partir del año 2010 y algunos anteriores como referente histórico. Resultados: Se describieron los principales mecanismos e investigaciones que evidencian la influencia del tipo de grupo sanguíneo ABO en los niveles plasmáticos del FvW, así como la estructura y función de dicha proteína. Conclusiones: Las concentraciones plasmáticas del FvW pueden depender del tipo de grupo sanguíneo, la edad, sexo, embarazo, ciclo menstrual, variación de proteínas y factores bioquímicos e inmunológicos. Se podría tener en cuenta el tipo de grupo sanguíneo de los pacientes como un posible factor predictor a futuro de complicaciones clínicas tanto trombóticas como hemorrágicas.

Copyright of Zdravotnícke Študie is the property of Catholic University in Ruzomberok and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Zdravotnícke Študie is the property of Catholic University in Ruzomberok and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke that mainly affects young adults. Early, accurate diagnosis can reduce the rate and severity of complications., Objective: The aim of this study was to analyse the clinical characteristics, management, and treatment of CVT in different centres in Spain., Methods: We conducted a multicentre, retrospective, descriptive study of patients hospitalised due to CVT between 2008 and 2017 at 10 Spanish centres., Results: We included 256 patients, with a mean age (SD) of 49.8 (18.7) years; 51% of patients were women. The most frequent symptoms were headache (73%), focal deficits (50%), epileptic seizures (33%), and encephalopathy (21%). The most frequent localisations were the superior sagittal sinus (12.5%), the transverse sinus (10.9%), and 2 or more sinuses or veins (66.4%). Thrombophilia was the most frequent known aetiology (24%), and was most commonly associated with the prothrombin G20210A mutation (19%). Forty-six percent of patients were treated with antithrombotics for 3 to 6 months, 21% for one year, and 22.6% required indefinite anticoagulation. Endovascular therapy was performed in 5% of cases, and 33% required neurosurgery. Regarding outcomes, 75% of patients were independent at 3 months (modified Rankin Scale [mRS] score ≤ 2), with papilloedema (P =  .03), focal deficits (P = .001), and encephalopathy (P < .001) showing a statistically significant association with poor prognosis (mRS > 3). The in-hospital mortality rate was 4.3%, with a 3-month mortality rate of 6.3%., Conclusion: The diverse risk factors and variable presentation of CVT represent a challenge in the diagnosis and treatment of this condition. To improve prognosis and reduce mortality, it is essential to establish management protocols for this entity., (Copyright © 2021 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

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Introdução: A doença tromboembólica venosa e as complicações obstétricas resultantes do tromboembolismo placentário são as principais causas de morbidade e mortalidade materna e fetal. Pode-se dizer que a gravidez é um fator independente para o desenvolvimento de trombose, já que seu risco é de 5 a 6 vezes maior em mulheres grávidas quando comparadas a não grávidas, sendo mais elevado após o parto. Pacientes e Métodos: Trata-se de uma coorte histórica, onde foram estudadas pacientes atendidas no Serviço de Obstetrícia da Universidade Federal de Juiz de Fora (expostos=n=70 pacientes) e na Faculdade de Medicina de Barbacena (não expostos=n=74 pacientes). As pacientes foram divididas em dois grupos: Grupo 1 = pacientes com alguma trombofilia identificada (expostos) através das dosagens de proteína S, proteína C, homocisteína, antitrombina III, mutação da MTHFR, mutação da protrombina e do fator V de Leiden; e Grupo 2 = pacientes do serviço de baixo risco obstétrico. Resultados: Houve associação entre trombofilia e aborto prévio, bem como trombofilia e morte fetal prévia (p

Objective: To standardize the investigation and clinical management of women with laboratory and/or clinical abnormalities suggestive of thrombophilia, in order to optimize antithrombotic approach and indication of laboratory tests. Methodology: A discussion was carried out among 107 physicians (gynecologists/obstetricians, hematologists and vascular surgeons) present at a forum held at the Hospital Israelita Albert Einstein, in São Paulo (SP), Brazil. As a minimum criterion, 80% agreement was established in the voting to each recommendation of conduct in the final document. The cases in which there was agreement below 80% were discussed again, reaching a consensual agreement of conduct for the document writing. Conclusion: The standardization of an institutional consensus of suggestions of clinical approach contributes to a better management of the group to be evaluated and minimizes risks of intercurrent events. This was the first national consensus on the investigation of thrombophilia in women. [ABSTRACT FROM AUTHOR]

Clotting disorders characterized by a predisposition of thrombotic phenomena that occur due to hemostatic changes are called thrombophilias. Thrombophilias occur by mutation of gene or by antiphospholipid antibody syndrome (APS), characterized by acquired thrombophilia and hereditary thrombophilia, which can occur by genetic mutations or antiphospholipid antibody syndrome. In this context the present study has the objective of describing the genetic and acquired thrombophilias and to describe the influence of the polymorphism of the MTHFR enzyme as a thrombophilic marker, through literature review. In order to carry out the integrative literature review, a search in databases between March and April of 2019 was carried out, with 27 selections from a general sample of 235 articles found. A composition of 27 articles was used for this sample, of which 29.63% were written in Portuguese, 51.85% in English and 18.52% in Spanish. [ABSTRACT FROM AUTHOR]

Introduction: Venous thromboembolic disease and obstetric complications resulting from placental thromboembolism are the main causes of maternal and fetal morbidity and mortality. Pregnancy is considered an independent factor for the development of thrombosis, as its risk is 5 to 6 times greater in pregnant women when compared to non-pregnant women, being even higher after childbirth. Methods: This historical cohort included patients seen at the Obstetrics Service of Federal University of Juiz de Fora (exposed patients, n = 70) and at the School of Medicine of Barbacena (unexposed patients, n = 74). The patients were divided into two groups: Group 1 consisted of patients with some thrombophilia identified through measurement of protein S, protein C, homocysteine, antithrombin III, MTHFR mutation, prothrombin and factor V Leiden mutations; and Group 2 consisted of patients from the low obstetric risk service. Results: There was an association between thrombophilia and previous abortion, as well as thrombophilia and previous fetal death (p < 0.05). MTHFR mutation was associated with history of HELLP syndrome (p = 0.03; x2 = 4.2) and preeclampsia (p = 0.03; x2 = 4.5) when in homozygous mutation. Homozygous MTHFR was also associated with mean homocysteine levels, so that homozygotes were those with highest homocysteine levels (p = 0.01; x2 = 5.8; x = 27.2 ± 41.2 vs. 12.62 ± 19.0). Conclusions: Hereditary thrombophilias may be associated with poor obstetric outcome and should be valued at clinical obstetrics. [ABSTRACT FROM AUTHOR]

The antiphospholipid syndrome (APS), or Hughes's disease, an autoimmune systemic disease, is the most common thrombophilias acquired in the young adult. In obstetrics, it is characterized clinically and may be associated with other diseases. The objective of this study was to identify the specific laboratory predictors of high risk for fetal loss, as well as the main associated symptomatologies. This study was performed through data analysis of 1557 pregnant patients diagnosed with classic antiphospholipid syndrome. The condition most associated with patients with obstetric SAF in the present study was the presence of previous abortion, followed by early delivery, thrombosis, fetal death, recurrent abortion and pre-eclampsia. The laboratory predictors associated with obstetric antiphospholipid syndrome were lupus anticoagulant and anticardiolipin IgG / IgM. It is necessary to carry out a study to complement the profile of the patients of this syndrome in pregnancy, because the development of antiphospholipid antibodies appear to be frequent in critically ill patients, but more studies are necessary to clarify their pathogenic role and its implications in clinical practice. [ABSTRACT FROM AUTHOR]

Sin resumen

La trombosis venosa cerebral (TVC) representa el 0,5 % de todos los eventos vasculares cerebrales a nivel mundial; es una entidad compleja y de difícil diagnóstico, dada la variabilidad en el modo de presentación, el pronóstico y la diversidad de condiciones médicas que la originan. Ocurre por obstrucción del drenaje venoso cerebral. Su principal manifestación en lactantes y niños son las convulsiones. Este es el caso de una TVC por déficit de proteína S en un paciente pediátrico, el objetivo de este caso es destacar la importancia de la sospecha e identificación temprana de la enfermedad, así como la búsqueda del factor desencadenante. La TVC es una entidad grave, es potencialmente tratable y su pronóstico dependerá de la oportunidad del diagnóstico e intervención.

Resumo Durante a gravidez e o puerpério, existe um estado de hipercoagulabilidade sanguínea e, portanto, de risco para eventos tromboembólicos. A trombose de veia renal é uma condição grave, pouco frequente e de difícil diagnóstico. Este estudo relatou um caso de trombose de veia renal numa puérpera, descrevendo caso clínico, fatores de risco, métodos diagnósticos e o tratamento instituído.

OBJETIVO: Descrever desfechos obstétricos e frequência de trombofilias em gestantes com óbito fetal de repetição após a 20a semana de gravidez. MÉTODOS: Avaliação de desfechos obstétricos em uma série de casos de gestantes com óbito fetal de repetição após a 20a semana de gestação, acompanhadas de 2001 a 2013. A atividade de antitrombina, atividade da proteína C e S, presença de fator V de Leiden, presença da mutação do gene de protrombina e presença de síndrome antifosfolípide foram avaliadas nessas pacientes. RESULTADOS: Foram incluídas 20 pacientes que tinham óbito fetal de repetição. Trombofilias foram encontradas em 11 delas, sendo 7 diagnosticadas como síndrome antifosfolípide, 3 como deficiência de proteína S e 1 como mutação do gene da protrombina. Todas foram tratadas com heparina subcutânea (heparina não fracionada ou enoxaparina) e 14 delas com ácido acetilsalicílico (AAS) durante toda a gestação. Complicações obstétricas ocorreram em 15 pacientes e incluíram: restrição de crescimento fetal intrauterino (25%), placenta prévia (15%), índice de líquido amniótico diminuído (25%), pré-eclâmpsia grave (10%), sofrimento fetal (5%) e óbito fetal (5%). A idade gestacional média do parto foi de 35,8±3,7 semanas e o peso dos recém-nascidos foi, em média, de 2.417,3±666,2 g. CONCLUSÃO: A pesquisa de trombofilias deve ser realizada em todas as gestantes com óbitos fetais de repetição após a 20a semana de gestação, como forma de identificar possíveis fatores causas passíveis de tratamento.

Objetivos: determinar a frequência e a associação ente LES em gestantes e a ocorrência de marcadores séricos para trombofilias hereditárias e adquiridas no grupo de gestantes estudadas. Métodos: foi realizado estudo caso-controle com 25 gestantes portadoras de Lúpus Eritematoso Sistêmico (grupo estudo) e 32 gestantes sem doença conhecida, com pelo menos uma gestação anterior (grupo controle). A presença de anticorpos antifosfolípides e trombofilia hereditária foi examinada em ambos os grupos. Utilizamos o Teste Χ² com correção de Yates ou Teste Exato de Fisher para verificar as associações e calcular o risco relativo. Resultados: verificou-se a presença de trombofilias em 72,0% das gestantes portadoras de LES e em 6,0% das pacientes do grupo controle. Encontrou-se significante associação entre a presença de LES em gestantes e marcadores séricos para trombofilias hereditárias/anticorpos antifosfolípides (p<0,05). Identificou-se risco relativo para presença de anticorpos antifosfolípides de 13,20 (1,81

Objetivos: avaliar os desfechos maternos-fetais da tromboprofilaxia com enoxaparina com base em sistema de pontuação em mulheres com marcadores séricos para trombofilia hereditária e antecedentes de complicações obstétricas. Métodos: realizou-se estudo retrospectivo com base em dados coletados de prontuários. Foram Incluídas 54 mulheres grávidas com marcadores séricos de trombofilia hereditária submetidos à intervenção terapêutica com enoxaparina no período de novembro de 2009 a dezembro de 2013. A dose inicial de heparina de baixo peso molecular foi norteada por um sistema de pontuação. Os resultados maternos-fetais de gestações anteriores e subsequentes ao tratamento foram comparados utilizando Teste qui-quadrado com correção de Yates ou Exato de Fisher; p<0,05 foi considerado significativo. Resultados: observou-se significativa redução de mortes fetais / perinatais (p<0,05) e abortos espontâneos (p<0,001) após intervenção. Os nascidos vivos com parto a termo (p<0,001) e nascidos vivos no parto prematuro (p<0,05) elevaram-se significativamente após a intervenção. Conclusão: a intervenção terapêutica com enoxaparina com base no sistema de pontuação durante a gravidez parece melhorar o prognóstico fetal. [ABSTRACT FROM AUTHOR]

Portal vein thrombosis is a rare vascular cause of acute abdomen and it is directly related to hereditary or acquired thrombophilias. This article presents the case of a 60-year-old male patient, with clinical signs of mesenteric ischemia that was confirmed by imaging examination. He underwent enterectomy and enteroanastomosis and after detection of portal vein thrombosis by splenoportography, he was prescribed drug-based treatment with continuous infusion of recombinant tissue plasminogen activator (Alteplase) via selective catheterization of the superior mesenteric artery. This is a treatment innovation. The portal system was successfully recanalized. However, the patient developed abdominal sepsis and required intensive care for 25 days. His clinical status improved and he was discharged with a prescription for oral anticoagulant. This article presents a brief review of the literature and a discussion of portal vein thrombosis. [ABSTRACT FROM AUTHOR]

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OBJETIVO: Avaliar a associação entre as malformações do sistema nervoso central (SNC) e a mutação C677T-MTHFR no sangue fetal. MÉTODOS: Foi realizado um estudo caso-controle que comparou a presença da mutação C677T-MTHFR entre 78 fetos com malformações de SNC e 100 fetos morfologicamente normais. O DNA genômico foi extraído e purificado do sangue fetal utilizando o Wizard® Genomic DNA Purification Kit (Promega Corp., Madison, WI, USA), de acordo com o protocolo do fabricante. A reação em cadeia da polimerase (PCR, na sigla em inglês) foi realizada para a detecção da mutação C677T-MTHFR termolábil. A análise estatística descritiva foi realizada usando o teste exato de Fisher e o γ² e o teste de Wilcoxon foi utilizado para a análise univariada. Uma análise de regressão logística foi realizada para identificar as variáveis preditoras de malformações do SNC fetal. RESULTADOS: Os casos e controles foram similares quanto às características maternas, incluindo idade e paridade. A mutação C677T-MTHFR foi detectada em 20 casos (25,6%) e em 6 controles na forma heterozigota (OR 10,3; IC95% 3,3-32,2) e em 6 casos (7,7%) e em 1 controle na forma homozigota (OR 12,3; IC95% 1,3-111,1), e essas diferenças foram estatisticamente significativas. CONCLUSÃO: A presença da mutação C677T-MTHFR no sangue fetal foi consistente com maior risco de malformações de SNC, tanto na forma heterozigota quando homozigota.

La trombosis venosa cerebral (TSVC) es un tipo de accidente cerebrovascular (ACV) que involucra el lado venoso de la circulación cerebral, incluye trombosis de los senos venosos durales y/o de las venas corticales y profundas del cerebro, es una causa poco común 0,5-1 % de todos los accidentes cerebrovasculares, con una prevalencia estimada en el rango entre 0. 22 a 1,23 / 100.000 / año. Los factores de riesgo para TSVC, están generalmente divididos en riesgos adquiridos (por ejemplo: cirugía, trauma, embarazo, puerperio, síndrome antifosfolípido, cáncer, hormonas exógenas) y los riesgos genéticos (trombofilia hereditaria). Los factores de riesgo más ampliamente estudiados para TSVC incluyen estados protrombóticos, las trombofilias heredadas asociadas con TSVC incluyen deficiencias de antitrombina, proteína C, proteína S (PS), mutación del factor V Leiden y la mutación del gen 20210 de protrombina. La prevalencia del déficit de PS, oscila entre un 0,02 y un 0,03 % en la población general y aumenta hasta un 2 % en pacientes no seleccionados con trombosis. Con una mortalidad cercana al 9 %. El manejo es usualmente médico. Se cita el caso de una paciente de 28 años de edad, con cuadro clínico de cefalea de 1 mes de evolución, con hallazgos en neuroimagen de trombosis de senos transverso y sigmoideo izquierdo con déficit de proteína S.

OBJETIVO: Avaliar se a intervenção com heparina de baixo peso molecular (HBPM) - enoxaparina sódica - foi eficaz na melhora dos desfechos perinatais de mulheres com trombofillias com base em sistema de pontuação. MÉTODOS: Estudo prospectivo, não randomizado, não controlado, realizado em um Ambulatório de Gestação de Alto Risco, durante o período de novembro de 2009 a novembro de 2011. Foram incluídas gestantes com diagnóstico e intervenção terapêutica para trombofilias adquiridas e/ou hereditárias na gestação atual. Os dados obstétricos e perinatais das gestantes anteriores à intervenção foram comparados com os desfechos subsequentes à intervenção, sendo analisados estatisticamente através do teste do χ², com correção de Yates, considerando significativos quando pPURPOSES: To assess whether an enoxaparin-based intervention using a score system was effective in improving perinatal outcome in women with thrombophilia. METHODS: Study Design: Prospective, not randomized, uncontrolled, performed at a Clinic of High-Risk Pregnancy from November 2009 to November 2011. We included women with a diagnosis and therapeutic intervention for thrombophilia acquired and/or inherited in the current pregnancy. The obstetric and perinatal outcomes of pregnant women before the intervention were compared with outcomes after the intervention, and statistically analyzed using the χ2 test with Yates correction, considered significant when p

Objectivos: Avaliação dos resultados obtidos através dos protocolos instituídos no Serviço para despiste de trombofilias e/ou neoplasias em doentes internados ao longo de 5 anos com o diagnóstico de trombose venosa profunda (TVP). Material e métodos: Estudo retrospectivo, através da consulta dos processos hospitalares, de todos os doentes com idade igual ou inferior a 50 anos internados no Serviço entre 01 de Janeiro de 2006 e 31 de Dezembro de 2010 com esse diagnóstico, e análise dos resultados obtidos nos protocolos. Resultados: De um total de 89 doentes, 64 (71,9%) eram do sexo feminino e 25 (28,1%) do masculino, sendo a média de idades de 33,3 ±10,0 anos. 14,6% dos doentes já haviam tido, pelo menos, um episódio prévio de TVP e 78,7% apresentavam, pelo menos, um factor de risco. Em 65 doentes (73,0%) foi aplicado o protocolo de despiste de trombofilias e de neoplasias, tendo sido detectadas trombofilias congénitas em 41 doentes (63,1%), dois casos de síndrome dos anticorpos anti-fosfolipídicos (SAF), um caso de gamapatia monoclonal, um de neoplasia do pulmão e um de cordoma do sacro. 49 dos doentes que realizaram os protocolos (75,4%) foram orientados para a Consulta de Hematologia, sendo que em 40 deles (81,6%) foi sugerido manter a anticoagulação oral por um período superior a 12 meses. Conclusões: Dada a elevada prevalência de polimorfismos genéticos que conferem risco trombótico acrescido e os não raros casos de SAF e de neoplasias ocultas presentes nesta população de doentes, considera-se que, apesar dos elevados custos, se deverá continuar a fazer o despiste deste tipo de patologias.Objectives: Evaluation of the results obtained with the application of specific protocols established in the Department for screening for thrombophilia and malignancy in patients hospitalized during a period of five years with the diagnosis of deep venous thrombosis (DVT). Material and methods: A retrospective study was performed through the review of the clinical files of all patients aged 50 or less hospitalized in our Department between January 1st 2006 and December 31st 2010 with that diagnosis, and the results obtained in the protocols were analysed. Results: From a total of 89 patients, 64 (71,9%) were females and 25 (28,1%) were males, and the mean age was 33,3 ±10,0 years. 14,6% of the patients had already had, at least, one previous episode of deep venous thrombosis and 78,7% had, at least, one risk factor. The protocol for screening for thrombophilia and malignancy was applied to 65 patients (73,0%), being detected congenital thrombophilias in 41 patients (63,1%), two cases of antiphospholipid antibody syndrome (APS), one case of monoclonal gammopathy, one of lung cancer and one of sacral chordoma. 49 of the patients subjected to the protocols (75,4%) were referred to the Hematology Clinic for evaluation and in 40 of those patients (81,6%) was suggested keeping oral anticoagulation for more than 12 months. Conclusions: Given the high prevalence of genetic polimorphisms that confer a higher thrombotic risk and the not rare cases of APS and of occult malignancies present in this population, it is considered that, despiste its elevated costs, the screening for these kind of pathologies should continue to be done.