Plasma Homocysteine Concentration, C677T
            <i>MTHFR</i>
            Genotype, and 844ins68bp
            <i>CBS</i>
            Genotype in Young Adults With Spontaneous Cervical Artery Dissection and Atherothrombotic Stroke

Pezzini, Alessandro; Zotto, Elisabetta Del; Archetti, Silvana; Negrini, Riccardo; Bani, Paolo; Albertini, Alberto; Grassi, Mario; Assanelli, Deodato; Gasparotti, Roberto; Vignolo, Luigi A.; Magoni, Mauro; Padovani, Alessandro

doi:10.1161/hs0302.103625

Cited by 189 publications

(132 citation statements)

References 43 publications

(28 reference statements)

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“…Embora haja controvérsias com relação ao etilismo como fator de risco para doença vascular cerebral isquêmica 20,21 , é possível que ele possa aumentar as chances de dissecção através da facilitação da ocorrência eventos traumáticos ou mesmo por possível efeito fragilizador do álcool sobre a parede arterial. A hiper-homocisteinemia moderada ou mutações no gene da MTHFR (5,10-metiletilenotetrahidrofolato redutase) têm sido relacionadas a dissecção arterial 22,23 , provavelmente devido a fragilização crônica da camada íntima deixando a artéria menos tolerante aos estresses mecânicos. Entretanto, como a investigação de hiper-homocisteinemia não foi realizada na maioria dos nossos pacientes, não foi possível concluir sua importância como fator de risco na nossa casuística.…”

Section: Discussionunclassified

Dissecção espontânea cervical carotídea e verbal: estudo de 48 pacientes

Campos

Evaristo

Yamamoto

et al. 2004

Arq. Neuro-Psiquiatr.

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, Milberto Scaff 4 RESUMO -Objetivo: Dada a ausência de estudos de séries brasileiras de pacientes com dissecção arterial cervical espontânea, com o objetivo de descrever os fatores de risco, sintomas precedentes, manifestações clínicas, resultados da investigação, tratamento e evolução. Método: realizamos a análise retrospectiva dos prontuários e laudos radiológicos [angiografia digital(AD), ressonância magnética(RM) e ângio-ressonância(ARM)] dos pacientes com esse diagnóstico atendidos no Serviço de Neurologia do HC/USP entre 1997 e 2003. Resultados: 48 pacientes (24 homens), média de idade 37,9 anos; 26 pacientes com dissecção carotídea (DC) unilateral, 15 com vertebral (DV) unilateral e 7 com multiarterial, todos com déficits neurológicos. Os principais fatores de risco para doença vascular foram hipertensão arterial, tabagismo e dislipidemia. Mais de 80% apresentaram pelo menos um sintoma precedente, na maioria cefaléia têmporo-parietal. Cervicalgia foi referida por 44% dos pacientes com DV e por 3,4% dos com DC. O tempo médio entre o primeiro sintoma e o déficit foi 5,4 dias para as DC e 13,5 para as DV.AD foi o principal método diagnóstico (93%), associado a RM e ARM em 42% dos casos. Em 3 pacientes a RM cervical com supressão de gordura foi isoladamente suficiente. 75% dos pacientes receberam anticoagulação. Dois pacientes fizeram trombólise endovenosa sem complicações. A evolução foi boa, exceto por dois óbitos (DC bilateral). Conclusão: Os resultados são semelhantes aos da literatura, exceto pela baixa freqüência de cervicalgia nos casos de DC e pelo predomínio de cefaléia têmporo-parietal nas dissecções arteriais cervicais. Fatores de risco para doença vascular isquêmica foram frequentes. PALAVRAS-CHAVE: dissecção arterial, artéria carótida interna, artéria vertebral, angiografia, ressonância magnética. Spontaneous cervical carotid and vertebral arteries dissection -Study of 48 patientsABSTRACT -Objective: To report a Brazilian series of spontaneous cervical arterial dissections, risk factors, warning symptoms, clinical manifestations, diagnostic tests, treatment and prognosis. Method: We performed the retrospective analysis of clinical and neuroradiological records (MRI, A-MRI and Angiography) of patients with this diagnosis who were evaluated in a tertiary hospital for the period of 1997-2003. Results: 48 patients (24 men) with median age 37.9 years: 26 patients with unilateral internal carotid dissection (ICAD), 15 with unilateral vertebral artery dissection (VAD) and 7 with multivessel dissections. All patients presented neurological deficits. Hypertension, smoking and dyslipidemia were the main risk factors. More than 80% of patients presented at least one initial symptom, most of them temporoparietal headache. 44% of patients with VAD and only 3.4% of patients with ICAD had neck pain. The median interval between the onset of symptom and the appearance of neurological deficit was 5.4 days for ICAD and 13.5 days for VAD. Five patients with ICAD presented preceding TIA. Angiography was performed in...

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Section: Discussionunclassified

Dissecção espontânea cervical carotídea e verbal: estudo de 48 pacientes

Campos

Evaristo

Yamamoto

et al. 2004

Arq. Neuro-Psiquiatr.

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“…Magnetic resonance angiography or conventional angiography of the neck and cerebral vessels were performed in selected cases. 16,17 …”

Section: Patients With MImentioning

confidence: 99%

Polymorphisms of the Interleukin-1β Gene Affect the Risk of Myocardial Infarction and Ischemic Stroke at Young Age and the Response of Mononuclear Cells to Stimulation In Vitro

Iacoviello

Castelnuovo

Gattone

et al. 2005

ATVB

148

117

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on behalf of IGIGI InvestigatorsObjectives-To investigate the role of interleukin-1␤ (IL-1␤) gene polymorphisms as a link between inflammation, coagulation, and risk of ischemic vascular disease at young age. Methods and Results-A total of 406 patients with myocardial infarction (MI) at young age, frequency-matched for age, sex, and recruitment center, with 419 healthy population-based controls and 134 patients with ischemic stroke at young age, matched by age and sex, with 134 healthy population-based controls, were studied. Subjects carrying the TT genotype of the Ϫ511C/T IL-1␤ polymorphism showed a decreased risk of MI (odds ratio [OR], 0.36; 95% CI, 0.20 to 0.64) and stroke (OR, 0.32; 95% CI, 0.13 to 0.81) after adjustment for conventional risk factors. In both studies, the T allele showed a codominant effect (Pϭ0.0020 in MI; Pϭ0.021 in stroke). Mononuclear cells from volunteers carrying the T allele showed a decreased release of IL-1␤ and a decreased expression of tissue factor after stimulation with lipopolysaccharide compared with CC homozygotes. The presence of a monoclonal antibody against IL-1␤ during cell stimulation resulted in a marked reduction of tissue factor activity expression. Key Words: risk factors Ⅲ genetics Ⅲ stroke Ⅲ myocardial infarction Ⅲ inflammation Ⅲ coagulation I ncreased levels of inflammatory markers are associated with ischemic vascular disease. [1][2][3][4] Inflammation has a relevant role in the initiation and progression of atherosclerosis; 5 however, it can also play a primary role in thrombosis development by activating the coagulation process. 6 Interleukin-1␤ (IL-1␤), a proinflammatory cytokine, stimulates the synthesis of tissue factor (TF) from monocytes and endothelial cells. 7,8 TF triggers activation of the coagulation cascade toward thrombus formation. 9 Inflammatory responses show a high interindividual variability and have been associated with polymorphisms in IL-1␤ gene; 10,11 the latter have also been related to the risk of several chronic inflammatory diseases. 11,12 We hypothesized that IL-1␤ gene polymorphisms might modulate the inflammation-triggered pathway of thrombus formation and the risk of ischemic arterial disease such as myocardial infarction (MI) and ischemic stroke. Patients with early-onset disease represent a subset of individuals in whom the impact of genes is more expressed and can be more easily identified. [13][14][15] Therefore, we investigated whether the risk of MI and ischemic stroke at young age is associated with polymorphisms in IL-1␤ gene and whether these polymorphisms can influence thrombosis by modulating the IL-1␤-mediated TF activation in response to inflammation. Conclusions--511C/T IL- Methods Study Population Patients With MIBetween May 1995 and July 2002, 430 patients Ͻ45 (males) or Ͻ50 (females) years of age admitted to cardiology centers (see the list in the Appendix) with a first episode of MI were consecutively included into the study. Acute MI was defined as resting chest pain lasting Ͼ30 minutes accompanied by ST-segment...

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“…Son zamanlarda KAD gelişimi ile korelasyon gösteren hafif ve orta derecede hiperhomosisteinemi dikkati çekmektedir (11 (14).…”

Section: Discussionunclassified

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

Ersoy¹,

Koç²,

Düzgün³

et al. 2013

Türk Beyin Damar Hast Derg

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Genç serebral inme sebepleri arasında karotis arter diseksiyonu önemli bir yer tutmaktadır. Karotis arter diseksiyonu çoğu zaman spontan olarak gelişmesine rağmen hasta tarafından önemsenmeyen mikro-travmaya bağlı da ortaya çıkabilir. Bu yazıda eforlu yüzme sonrasında gelişen, sadece boyun ağrısı ve boyunda pulsatil şişlikle kliniğimize başvuran, ancak yapılan ileri tetkiklerinde kronik venöz sinüs trombozu ve serebral enfarktüsün de olduğu ortaya çıkan ekstrakranial internal karotis arter diseksiyonlu bir olgu sunulmaktadır. MTHFR gen mutasyonu da saptanan olgu multipl vasküler olayların bir arada nadir görülmesi nedeniyle sunuldu. Anahtar Sözcükler: Karotis arter diseksiyonu, venöz sinüs trombozu, serebral enfarkt, MTHFR gen mutasyonu, yüzme. A CASE OF CAROTID ARTERY DISSECTION DEVOLEPED AFTER SWIMMING: THE ROLE OF HETEREZYGOTE C677T MTHFR GEN MUTATION ABSTRACTCarotid artery dissection is one of the most important causes of cerebral stroke in young age. Although most cases of carotid artery dissection appear spontaneously, sometimes it may result from a microtrauma which the patient doesn't take it seriously. This article reports a case of extracranial internal carotid artery dissection starting from intense swimming and manifesting itself only as neck swelling and neck pain. Other analyses showed that the patient also suffered from a cronic venous sinus thrombosis and stroke. Moreover, genetic testing revealed a MTHFR gene mutation. This case is presented because of the multiple vascular events are seen rarely in the same patient. Key Words: Carotid artery dissection, venous sinus thrombosis, cerebral infarction, MTHFR gene mutation, swimming. GİRİŞKarotis arter diseksiyonu (KAD) genç ve orta yaştaki hastalarda inme etiyolojisinde büyük önem taşımaktadır. İnsidansı 100 000'de 2.6-2.9'dur (1). Tüm yaşlarda görülmesine rağmen en sık beşinci dekatta rastlanır. Erkeklerde hafif predominansi oluşturmakla birlikte (% 56), kadınlarda 5 yaş daha erken ortaya çıkmaktadır (2, 3).En sık görülen diseksiyon tipi eksternal karotis arter diseksiyonudur. Klinik tablo çok hafif belirtilerden (ipsilateral baş ve boyun ağrısı, Horner sendromu) geçici iskemik ataklar (İA) ve serebral iskemiye bağlı ağır bulgulara kadar değişebilir. TİA ve serebral iskemi karotis arter diseksiyonu gelişen olguların % 49-84'ünde görülmektedir (2). Başlıca iskemi gelişme mekanizması diseksiyon yerinde oluşan trombüsten serebral arterlere olan embolidir. Hemodinamik değişiklikler patolojik mekanizmada daha az oranda rol oynamaktadır (4).KAD tanısında renkli doppler ultrasonografi, magnetik rezonans anjiografi (MRA), bilgisayarlı tomografi anjiografi (BTA) ve dijital substraksiyon _____________________________________________________________________________________________________________________________

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Plasma Homocysteine Concentration, C677T MTHFR Genotype, and 844ins68bp CBS Genotype in Young Adults With Spontaneous Cervical Artery Dissection and Atherothrombotic Stroke

Cited by 189 publications

References 43 publications

Dissecção espontânea cervical carotídea e verbal: estudo de 48 pacientes

Dissecção espontânea cervical carotídea e verbal: estudo de 48 pacientes

Polymorphisms of the Interleukin-1β Gene Affect the Risk of Myocardial Infarction and Ischemic Stroke at Young Age and the Response of Mononuclear Cells to Stimulation In Vitro

A case of carotid artery dissection devoleped after swimming: The role of heterezygote C677T MTHFR gen mutation

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