ABSTRACT
PURPOSE: The intracranial aneurysm (IA) rupture is associated with a subarachnoid hemorrhage. One third of patients die, and one third remain depend for daily activities. Genetic factors are crucial in the formation and clinical evolution of IAs. Multiple loci have been associated with AIs, much of them implicating multiple pathways related to vascular endothelial maintenance and extracellular matrix integrity. Thus, the aim of our study was to characterize whether polymorphisms in genes implicated in the vascular endothelial maintenance could modify the risk of developing IAs. SUBJECTS AND METHODS: We have studied 176 patients with IA recruited in the Service of Neurosurgery at the University Hospital of Valladolid (Spain) and a control group if 150 sex-matched healthy subjects. Clinical variables were collected from each patient. We have analyzed VEGFA rs833061, VEGFR2 rs2071559, endothelin rs5370, endoglin rs3739817, and eNOS rs1799983 polymorphisms. RESULTS: Our results showed that allele T of the eNOS rs1799983 polymorphism is correlated with decreased risk of developing the disease; thus, allele G of the eNOS rs1799983 polymorphism increased the risk of developing IA. CONCLUSION: The association of eNOS rs1799983 polymorphism with the risk to suffer IA reinforces the hypothesis that genetic variants in eNOS gene could be crucial in the pathogenesis of IA.
Subject(s)
Aneurysm, Ruptured , Intracranial Aneurysm , Subarachnoid Hemorrhage , Humans , Intracranial Aneurysm/genetics , Intracranial Aneurysm/complications , Nitric Oxide Synthase Type III/genetics , Polymorphism, Genetic , Subarachnoid Hemorrhage/complications , Aneurysm, Ruptured/genetics , Aneurysm, Ruptured/complications , Polymorphism, Single Nucleotide/genetics , Genetic Predisposition to Disease/genetics , Case-Control StudiesABSTRACT
Ganglioneuromas are slow growing tumours arising from tissues of the neural crest, mainly in autonomic nervous system. They are frequently localized in the posterior mediastinum being the intraspinal involvement very uncommon. We present the case of a female patient with bilateral cervical ganglioneuroma, together with a review of the cases published to date, emphasizing in the main characteristics of these tumours and including them as part of neurofibromatosis type 1 spectrum.
Los ganglioneuromas son tumores de lento crecimiento que se originan en tejidos derivados de la cresta neural, principalmente en el sistema nervioso autónomo. Se localizan sobre todo en el mediastino posterior, siendo la afectación intraespinal muy poco frecuente. Presentamos el caso de una mujer intervenida de ganglioneuromas localizados en la columna cervical y agrupamos los casos descritos previamente en la literatura inglesa revisando las características principales de estas neoplasias e incluyéndolas en el espectro de manifestaciones de la neurofibromatosis tipo 1.
Subject(s)
Ganglioneuroma , Neurofibromatosis 1 , Cervical Vertebrae/diagnostic imaging , Female , Ganglioneuroma/complications , Ganglioneuroma/diagnostic imaging , Ganglioneuroma/surgery , Humans , Neck , Neurofibromatosis 1/complicationsABSTRACT
A simultaneous arterial and venous approach has been widely described for the endovascular treatment of dural arteriovenous fistula (DAVFs) and recently for arteriovenous malformation (AVMs). Conventional venous approaches are performed by direct internal jugular puncture or by femoral access. Although complication rates are low, there are potential life-threatening complications that should be avoided. The advantages of radial artery access have been widely proven, nevertheless the use of upper limb veins in neurointervention are rarely reported. We present five cases of the simultaneous arteriovenous approach through the radial artery and superficial veins of the forearm for the treatment of intracranial neurovascular diseases.
Subject(s)
Central Nervous System Vascular Malformations/diagnostic imaging , Endovascular Procedures/methods , Forearm/blood supply , Forearm/diagnostic imaging , Radial Artery/diagnostic imaging , Veins/diagnostic imaging , Adult , Aged , Arteriovenous Malformations/diagnostic imaging , Arteriovenous Malformations/surgery , Central Nervous System Vascular Malformations/surgery , Cerebral Angiography/methods , Embolization, Therapeutic/methods , Female , Humans , Male , Middle Aged , Radial Artery/surgery , Veins/surgeryABSTRACT
Los tumores del estroma gastrointestinal (GIST) constituyen el tipo más frecuente de neoplasia mesenquimal del estroma gastrointestinal. Los casos que presentan características similares clínico-patológicas y moleculares que los GIST se ubican en los tejidos blandos del abdomen, y han sido denominados tumores del estroma extragastrointestinal (EGIST). Son infrecuentes y conocemos poco acerca de su pronóstico y manejo más adecuado. Presentamos el caso de una paciente diagnosticada de EGIST de localización en mesocolon con una evolución atípica. Este tipo de situaciones plantea un reto al diagnóstico diferencial a lo largo de todo el proceso y enfatiza la importancia de un manejo multidisciplinar.
Gastrointestinal stromal tumours (GIST) are the most common mesenchymal tumours of the gastrointestinal tract. Those GIST arising outside the gastrointestinal tract are called extra-gastrointestinal stromal tumours (EGIST) and share clinical, pathological and molecular features. They are very rare and very little is known about the correct management and prognosis of these neoplasms. The case is presented of a patient with a mesenteric EGIST and an unusual outcome. Its differential diagnosis is difficult, and the need for a multidisciplinary team approach is emphasised.
Subject(s)
Humans , Gastrointestinal Stromal Tumors , Mesocolon , Neoplasms , Patients , Prognosis , Gastrointestinal TractABSTRACT
No disponible
Subject(s)
Humans , Male , Epidural Abscess/complications , Epidural Abscess/metabolism , Optic Nerve/abnormalities , Optic Nerve/virology , Aspergillosis/virology , Anti-HIV Agents/administration & dosage , HIV/genetics , Epidural Abscess/immunology , Epidural Abscess/virology , Optic Nerve/metabolism , Aspergillosis/prevention & control , Anti-HIV Agents , HIV/growth & developmentABSTRACT
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM.
Subject(s)
Arteriovenous Malformations/therapy , Embolization, Therapeutic/methods , Lumbar Vertebrae/blood supply , Angiography, Digital Subtraction , Arteriovenous Malformations/diagnosis , Arteriovenous Malformations/diagnostic imaging , Dimethyl Sulfoxide/therapeutic use , Embolization, Therapeutic/instrumentation , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Polyvinyls/therapeutic use , Treatment OutcomeABSTRACT
Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM.
