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A small number of case reports have documented a link between atlantoaxial dislocation (AAD) and vertebral artery dissection (VAD), but this association has never been described in patients with hereditary connective tissue disorders. We present a case of an 18-year-old female patient, diagnosed with Marfan syndrome since the age of one, who underwent brain MRA for intracranial aneurysm screening revealing tortuosity of the internal carotid and vertebral arteries as well as atlantoaxial dislocation. Since the patient was asymptomatic, a wait-and-see approach was chosen, but a follow-up MRA after 18 months showed the appearance of a dissecting pseudoaneurysm of the V3 segment of the left vertebral artery. Despite the patient being still asymptomatic, it was decided to proceed with C1-C2 stabilization to prevent further vascular complications. Follow-up imaging showed realignment of the atlantoaxial joint and reduction of the dissecting pseudoaneurysm of the left vertebral artery. In our patient, screening MRA has led to the discovery of asymptomatic arterial and skeletal abnormalities which, if left untreated, might have led to severe cerebrovascular complications. Therefore, AAD correction or close monitoring with MRA should be provided to MFS patients with this craniovertebral junction anomaly, even if asymptomatic.
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Aneurisma Falso , Aneurisma Intracraneal , Luxaciones Articulares , Síndrome de Marfan , Disección de la Arteria Vertebral , Femenino , Humanos , Adolescente , Disección de la Arteria Vertebral/diagnóstico , Disección de la Arteria Vertebral/diagnóstico por imagen , Síndrome de Marfan/complicaciones , Síndrome de Marfan/diagnóstico , Aneurisma Falso/diagnóstico , Aneurisma Falso/diagnóstico por imagen , Arteria Vertebral/diagnóstico por imagen , Arteria Vertebral/anomalías , Luxaciones Articulares/complicaciones , Luxaciones Articulares/diagnósticoRESUMEN
BACKGROUND AND AIMS: Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria. METHODS: Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18 years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021). RESULTS: We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014). CONCLUSIONS: Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.
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PURPOSE: Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients' quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients. METHODS: We retrospectively included 88 consecutive patients (39% females, mean age 37.1 ± 14.2 years) with genetically confirmed MFS who underwent at least one MRI or CT examination of the lumbosacral spine. Vertebral scalloping (VS) and dural sac ratio (DSR) were calculated from L3 to S3. Likely pathogenic or pathogenic FBN1 variants were categorized as either protein-truncating or in-frame. The latter were further classified according to their impact on the cysteine content of fibrillin-1. RESULTS: Higher values of the systemic score (revised Ghent criteria) were associated with greater DSR at lumbar (p < 0.001) and sacral (p = 0.021) levels. Patients with protein-truncating variants exhibited a greater annual increase in lumbar (p = 0.039) and sacral (p = 0.048) DSR. Mutations affecting fibrillin-1 cysteine content were linked to higher VS (p = 0.009) and DSR (p = 0.038) at S1, along with a faster increase in VS (p = 0.032) and DSR (p = 0.001) in the lumbar region. CONCLUSION: Our study shed further light on the relationship between genotype, dural pathology, and the overall clinical spectrum of MFS. The identification of protein-truncating variants and those impacting cysteine content may therefore suggest closer patient monitoring, in order to address potential complications associated with DE.
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Duramadre , Fibrilina-1 , Síndrome de Marfan , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/diagnóstico por imagen , Femenino , Masculino , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Duramadre/diagnóstico por imagen , Duramadre/patología , Dilatación Patológica/genética , Dilatación Patológica/diagnóstico por imagen , Fibrilina-1/genética , Adulto Joven , AdipoquinasRESUMEN
BACKGROUND: Occlusion of the internal carotid artery (ICA), whether isolated or in the setting of a tandem lesion (TL) have a poor response to treatment with intravenous thrombolysis. Previous studies ââhave demonstrated the superiority of mechanical thrombectomy in the treatment of acute ischemic stroke (AIS) following large vessel occlusion, compared to standard intravenous fibrinolysis. The aim of our study was to describe endovascular treatment (EVT) in AIS due to isolated ICA occlusion or TL. METHODS: We assessed the association between 90-day outcome and clinical, demographic, imaging, and procedure data in 51 consecutive patients with acute isolated ICA occlusion or TL who underwent EVT. We evaluated baseline NIHSS and mRS, ASPECTS, type of occlusion, stent placement, use of stent retrievers and/or thromboaspiration, duration of the procedure, mTICI, postprocedural therapy and complications. RESULTS: A favorable 90-day outcome (mRS 0-2) was achieved in 34 patients (67 %) and was significantly associated with the use of dual antiplatelet therapy after the procedure (p = 0.008), shorter procedure duration (p = 0.031), TICI 2b-3 (p < 0.001) and lack of post-procedural hemorrhagic transformation (p = 0.001). Four patients did not survive, resulting in a mortality rate of 8 %. CONCLUSIONS: Our study has shown that EVT in the treatment of AIS due to ICA occlusion is safe, and effective in determining a good functional outcome. ICA stenting led to good angiographic results and therapy with a glycoprotein IIb / IIIa inhibitor immediately after stent release did not result in a greater risk of hemorrhage. The use of post-procedural dual antiplatelet therapy was associated with favorable outcome, without a significant increase in hemorrhagic transformation.
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Isquemia Encefálica , Procedimientos Endovasculares , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Isquemia Encefálica/complicaciones , Isquemia Encefálica/terapia , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/cirugía , Humanos , Estudios Retrospectivos , Stents , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/tratamiento farmacológico , Accidente Cerebrovascular/etiología , Trombectomía , Resultado del TratamientoAsunto(s)
Aneurisma Intracraneal , Síndrome de Marfan , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/epidemiología , Aneurisma Intracraneal/etiología , Síndrome de Marfan/complicaciones , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/epidemiología , PrevalenciaRESUMEN
OBJECTIVE: To analyze the attitude and results of Italian epilepsy surgery centers in the surgical management of "low grade epilepsy associated neuroepithelial tumors" (LEATs). METHODS: We conducted a retrospective study enrolling 339 consecutive patients with LEATs who underwent surgery between January 2009 and June 2015 at eight Italian epilepsy surgery centers. We compared demographic, clinical, pathologic, and surgical features of patients with favorable (Engel class I) and unfavorable (Engel class II, III, and IV) seizure outcome. In addition, we compared patients with tumor-associated focal cortical dysplasia (FCD) and patients with solitary tumors to identify factors correlated with FCD diagnosis. RESULTS: Fifty-five (98.2%) of 56 patients with medically controlled epilepsy were seizure-free after surgery, compared to 249 (88.0%) of 283 patients with refractory epilepsy. At multivariate analysis, three variables independently predict unfavorable seizure outcome in the drug-resistant group. Age at surgery is largely the most significant (p = 0.001), with an odds ratio (OR) of 1.04. This means that the probability of seizure recurrence grows by 4% for every waited year. The resection site is also significant (p = 0.039), with a relative risk (RR) of 1.99 for extratemporal tumors. Finally, the completeness of tumor resection has a trend toward significance (p = 0.092), with an RR of 1.82 for incomplete resection. Among pediatric patients, a longer duration of epilepsy was significantly associated with preoperative neuropsychological deficits (p < 0.001). A statistically significant association was observed between FCD diagnosis and the following variables: tailored surgery (p < 0.001), temporal resection (p = 0.001), and surgical center (p = 0.012). SIGNIFICANCE: Our nationwide LEATs study gives important insights on factors predicting seizure outcome in refractory epilepsy and determining variability in FCD detection. Timely surgery, regardless of pharmacoresistance and oriented to optimize epileptologic, neuropsychological, and oncologic outcomes should be warranted.
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Neoplasias Encefálicas/epidemiología , Neoplasias Encefálicas/cirugía , Epilepsia Refractaria/epidemiología , Epilepsia Refractaria/cirugía , Neoplasias Neuroepiteliales/epidemiología , Neoplasias Neuroepiteliales/cirugía , Adolescente , Adulto , Neoplasias Encefálicas/diagnóstico , Niño , Epilepsia Refractaria/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Neoplasias Neuroepiteliales/diagnóstico , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenAsunto(s)
Disección Aórtica/epidemiología , Aneurisma Intracraneal/epidemiología , Síndrome de Loeys-Dietz/epidemiología , Adolescente , Adulto , Disección Aórtica/diagnóstico por imagen , Femenino , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Italia/epidemiología , Síndrome de Loeys-Dietz/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Adulto JovenRESUMEN
Background: Being able to differentiate mild cognitive impairment (MCI) patients who would eventually convert (MCIc) to Alzheimer's disease (AD) from those who would not (MCInc) is a key challenge for prognosis. Objective: This study aimed to investigate the ability of sulcal morphometry to predict MCI progression to AD, dedicating special attention to an accurate identification of sulci. Methods: Twenty-five AD patients, thirty-seven MCI and twenty-five healthy controls (HC) underwent a brain-MR protocol (1.5T scanner) including a high-resolution T1-weighted sequence. MCI patients underwent a neuropsychological assessment at baseline and were clinically re-evaluated after a mean of 2.3 years. At follow-up, 12 MCI were classified as MCInc and 25 as MCIc. Sulcal morphometry was investigated using the BrainVISA framework. Consistency of sulci across subjects was ensured by visual inspection and manual correction of the automatic labelling in each subject. Sulcal surface, depth, length, and width were retrieved from 106 sulci. Features were compared across groups and their classification accuracy in predicting MCI conversion was tested. Potential relationships between sulcal features and cognitive scores were explored using Spearman's correlation. Results: The width of sulci in the temporo-occipital region strongly differentiated between each pair of groups. Comparing MCIc and MCInc, the width of several sulci in the bilateral temporo-occipital and left frontal areas was significantly altered. Higher width of frontal sulci was associated with worse performances in short-term verbal memory and phonemic fluency. Conclusions: Sulcal morphometry emerged as a strong tool for differentiating HC, MCI, and AD, demonstrating its potential prognostic value for the MCI population.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Progresión de la Enfermedad , Imagen por Resonancia Magnética , Pruebas Neuropsicológicas , Humanos , Enfermedad de Alzheimer/patología , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/psicología , Disfunción Cognitiva/patología , Disfunción Cognitiva/diagnóstico por imagen , Disfunción Cognitiva/diagnóstico , Masculino , Femenino , Anciano , Imagen por Resonancia Magnética/métodos , Persona de Mediana Edad , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador , Anciano de 80 o más AñosRESUMEN
INTRODUCTION: Marfan syndrome (MFS) is the most common inherited connective tissue disorder and its association with intracranial aneurysms (ICAs) has been debated for more than two decades. Here, we report the prevalence of ICAs at screening neuroimaging in a population of genetically confirmed MFS patients and present the results of a meta-analysis including our cohort of patients and those of previous studies. PATIENTS AND METHODS: We enrolled 100 consecutive MFS patients, who underwent screening with brain magnetic resonance angiography at our tertiary center between August 2018 and May 2022. We did a PubMed and Web of Science search to retrieve all studies on the prevalence of ICAs in patients with MFS published before November, 2022. RESULTS: Of the 100 patients included in this study (94% Caucasians, 40% females, mean age 38.6 ± 14.6 years), three had an ICA. We pooled the current study with five previously published studies, including a total of 465 patients, 43 of which harbored at least one unruptured ICA, leading to an overall ICA prevalence of 8.9% (95% CI 5.8%-13.3%). DISCUSSION AND CONCLUSION: In our cohort of genetically confirmed MFS patients, the prevalence of ICAs was 3%, which is substantially lower compared to previous studies based on neuroimaging. The high frequency of ICA found in previous studies could be explained by selection bias and lack of genetic testing, which may have led to the inclusion of patients with different connective tissue disorders. Further studies, including several centers and a large number of patients with genetically confirmed MFS, are needed to confirm our results.
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Enfermedades del Tejido Conjuntivo , Aneurisma Intracraneal , Síndrome de Marfan , Femenino , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Masculino , Síndrome de Marfan/epidemiología , Estudios Transversales , Aneurisma Intracraneal/diagnóstico por imagen , Prevalencia , Enfermedades del Tejido Conjuntivo/complicacionesRESUMEN
Introduction: The loss of SMARCB1/INI1 protein has been recently described in poorly differentiated chordoma, an aggressive and rare disease variant typically arising from the skull base. Methods: Retrospective study aimed at 1) examining the differential immunohistochemical expression of SMARCB1/INI1 in conventional skull base chordomas, including the chondroid subtype; 2) evaluating SMARCB1 gene deletions/copy number gain; and 3) analyzing the association of SMARCB1/INI1 expression with clinicopathological parameters and patient survival. Results: 65 patients (35 men and 30 women) affected by conventional skull base chordoma, 15 with chondroid subtype, followed for >48 months after surgery were collected. Median age at surgery was 50 years old (range 9-79). Mean tumor size was 3.6 cm (range 2-9.5). At immunohistochemical evaluation, a partial loss of SMARCB1/INI1 (>10% of neoplastic examined cells) was observed in 21 (32.3%) cases; the remaining 43 showed a strong nuclear expression. Fluorescence in situ hybridization (FISH) analysis was performed in 15/21 (71.4%) cases of the chordomas with partial SMARCB1/INI1 loss of expression. Heterozygous deletion of SMARCB1 was identified in 9/15 (60%) cases and was associated to copy number gain in one case; no deletion was found in the other 6 (40%) cases, 3 of which presenting with a copy number gain. No correlations were found between partial loss of SMARCB1/INI1 and the clinicopathological parameters evaluated (i.e., age, tumor size, gender, tumor size and histotype). Overall 5-year survival and 5-year disease-free rates were 82% and 59%, respectively. According to log-rank test analysis the various clinico-pathological parameters and SMARCB1/INI1 expression did not impact on overall and disease free-survival. Discussion: Partial loss of SMARCB1/INI1, secondary to heterozygous deletion and/or copy number gain of SMARCB1, is not peculiar of aggressive forms, but can be identified by immunohistochemistry in a significant portion of conventional skull base chordomas, including the chondroid subtype. The variable protein expression does not appear to correlate with clinicopathological parameters, nor survival outcomes, but still, it could have therapeutic implications.
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Multiple Sclerosis (MS) is an autoimmune demyelinating disease characterised by changes in iron and myelin content. These biomarkers are detectable by Quantitative Susceptibility Mapping (QSM), an advanced Magnetic Resonance Imaging technique detecting magnetic properties. When analysed with radiomic techniques that exploit its intrinsic quantitative nature, QSM may furnish biomarkers to facilitate early diagnosis of MS and timely assessment of progression. In this work, we explore the robustness of QSM radiomic features by varying the number of grey levels (GLs) and echo times (TEs), in a sample of healthy controls and patients with MS. We analysed the white matter in total and within six clinically relevant tracts, including the cortico-spinal tract and the optic radiation. After optimising the number of GLs (n = 64), at least 65% of features were robust for each Volume of Interest (VOI), with no difference (p > .05) between left and right hemispheres. Different outcomes in feature robustness among the VOIs depend on their characteristics, such as volume and variance of susceptibility values. This study validated the processing pipeline for robustness analysis and established the reliability of QSM-based radiomics features against GLs and TEs. Our results provide important insights for future radiomics studies using QSM in clinical applications.
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Enfermedades Autoinmunes , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/diagnóstico por imagen , Reproducibilidad de los Resultados , Pacientes , Imagen por Resonancia MagnéticaRESUMEN
The aim of our study was to evaluate the association between intracranial arterial tortuosity and cardiovascular outcome in patients with Loeys-Dietz syndrome (LDS). We performed a retrospective analysis of all patients with genetically confirmed LDS who underwent at least one brain MRA at our institution (n = 32); demographic and clinical features were evaluated in relation to the tortuosity of intracranial arteries as measured by tortuosity index (TI), which was calculated using the formula: [(centerline length) / (straight-line length)-1] × 100. Receiver operating characteristic curve analysis for intracranial TI and the binary end point of aortic surgery showed vertebrobasilar TI (VBTI) to be the best classifier among the examined arterial segments (AUC = 0.822). Patients with higher VBTI showed a greater incidence of aortic surgery (p < 0.001) and underwent more surgical and endovascular procedures (p = 0.006), with a higher rate of operations (p = 0.002). Kaplan-Meier analysis showed a significantly longer surgery-free survival in patients with lower arterial tortuosity (p < 0.001). At multivariate analysis, higher VBTI was associated with an increased risk of surgery (p < 0.001), which was independent of gene mutation and patient age. Increased VBTI is a marker of adverse cardiovascular outcome in patients with LDS, which can be easily measured on brain MRA, and may be useful in the management of this heterogeneous patient population.
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Síndrome de Loeys-Dietz , Enfermedades Cutáneas Genéticas , Arterias/anomalías , Arterias/diagnóstico por imagen , Arterias/cirugía , Humanos , Inestabilidad de la Articulación , Síndrome de Loeys-Dietz/complicaciones , Síndrome de Loeys-Dietz/diagnóstico por imagen , Síndrome de Loeys-Dietz/cirugía , Estudios Retrospectivos , Malformaciones VascularesRESUMEN
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by a (CTG) expansion in the DM protein kinase (DMPK) gene, representing the most common adult muscular dystrophy, characterized by a multisystem involvement with predominantly skeletal muscle and brain affection. Neuroimaging studies showed widespread white matter changes and brain atrophy in DM1, but only a few studies investigated the role of white matter metabolism in the pathophysiology of central nervous system impairment. We aim to reveal the relationship between the metabolic profile of parieto-occipital white matter (POWM) as evaluated with proton MR spectroscopy technique, with the visuoperceptual and visuoconstructional dysfunctions in DM1 patients. MR spectroscopy (3 Tesla) and neuropsychological evaluations were performed in 34 DM1 patients (19 F, age: 46.4 ± 12.1 years, disease duration: 18.7 ± 11.6 years). The content of neuro-axonal marker N-acetyl-aspartate, both relative to Creatine (NAA/Cr) and to myo-Inositol (NAA/mI) resulted significantly lower in DM1 patients compared to HC (p-values < 0.0001). NAA/Cr and NAA/mI correlated with the copy of the Rey-Osterrieth complex figure (r = 0.366, p = 0.033; r = 0.401, p = 0.019, respectively) and with Street's completion tests scores (r = 0.409, p = 0.016; r = 0.341, p = 0.048 respectively). The proportion of white matter hyperintensities within the MR spectroscopy voxel did not correlate with the metabolite content. In this study, POWM metabolic alterations in DM1 patients were not associated with the white matter morphological changes and correlated with specific neuropsychological deficits.
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The aim of our study was to compare compressed sensing (CS) time-of-flight (TOF) magnetic resonance angiography (MRA) with parallel imaging (PI) TOF MRA in the evaluation of patients with intracranial aneurysms treated with coil embolization or stent-assisted coiling. We enrolled 22 patients who underwent follow-up imaging after intracranial aneurysm coil embolization. All patients underwent both PI TOF and CS TOF MRA during the same examination. Image evaluation aimed to compare the performance of CS to PI TOF MRA in determining the degree of aneurysm occlusion, as well as the depiction of parent vessel and vessels adjacent to the aneurysm dome. The reference standard for the evaluation of aneurysm occlusion was PI TOF MRA. The inter-modality agreement between CS and PI TOF MRA in the evaluation of aneurysm occlusion was almost perfect (κ = 0.98, p < 0.001) and the overall inter-rater agreement was substantial (κ = 0.70, p < 0.001). The visualization of aneurysm parent vessel in CS TOF images compared with PI TOF images was evaluated to be better in 11.4%, equal in 86.4%, and worse in 2.3%. CS TOF MRA, with almost 70% scan time reduction with respect to PI TOF MRA, yields comparable results for assessing the occlusion status of coiled intracranial aneurysms. Short scan times increase patient comfort, reduce the risk of motion artifacts, and increase patient throughput, with a resulting reduction in costs. CS TOF MRA may therefore be a potential replacement for PI TOF MRA as a first-line follow-up examination in patients with intracranial aneurysms treated with coil embolization.
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Embolización Terapéutica , Aneurisma Intracraneal , Angiografía de Substracción Digital/métodos , Embolización Terapéutica/métodos , Estudios de Seguimiento , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/terapia , Angiografía por Resonancia Magnética/métodosRESUMEN
Transcatheter closure of patent foramen ovale (PFO) and secundum type atrial septal defect (ASD) are common transcatheter procedures. Although they share many technical details, these procedures are targeting two different clinical indications. PFO closure is usually considered to prevent recurrent embolic stroke/systemic arterial embolization, ASD closure is indicated in patients with large left-to-right shunt, right ventricular volume overload, and normal pulmonary vascular resistance. Multimodality imaging plays a key role for patient selection, periprocedural monitoring, and follow-up surveillance. In addition to routine cardiovascular examinations, advanced neuroimaging studies, transcranial-Doppler, and interventional transesophageal echocardiography/intracardiac echocardiography are now increasingly used to deliver safely and effectively such procedures. Long-standing collaboration between interventional cardiologist, neuroradiologist, and cardiac imager is essential and it requires a standardized approach to image acquisition and interpretation. Periprocedural monitoring should be performed by experienced operators with deep understanding of technical details of transcatheter intervention. This review summarizes the specific role of different imaging modalities for PFO and ASD transcatheter closure, describing important pre-procedural and intra-procedural details and providing examples of procedural pitfall and complications.
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OBJECTIVE: To analyze relationships between CD34 expression and several demographic, clinical, and pathologic features in patients with histopathologic evidence of low-grade epilepsy-associated tumors who underwent epilepsy surgery. METHODS: A retrospective study enrolling 187 patients with low-grade epilepsy-associated tumors who underwent surgery between January 2009 and June 2015 at 8 Italian epilepsy surgery centers was conducted. All cases were histologically diagnosed according to the World Health Organization classification of central nervous system tumors. Univariate and multivariate analyses were performed to identify variables associated with CD34 expression. RESULTS: Of 187 patients, 95 (50.8%) were CD34 positive. Tumor type and duration of epilepsy were independently associated with CD34 expression on multivariate analysis. Ganglioglioma and pleomorphic xanthoastrocytoma were the histologic types with the strongest association with CD34 positivity with an odds ratio of 9.2 and 10.4, respectively, compared with dysembryoplastic neuroepithelial tumors. Patients with a duration of epilepsy >10 years had a significantly greater likelihood to show CD34 expression, with an odds ratio of 2.8 compared with patients with a duration of epilepsy <2 years. On univariate analysis, CD34 expression appeared to be significantly related to older age at surgery, higher antiepileptic drug intake, and female sex. CONCLUSIONS: CD34 expression holds promise as a useful biomolecular marker for patients with low-grade epilepsy-associated tumors with evidence of a link with clinicopathologic features. This study confirmed the association between CD34 expression and tumor type and demonstrated a significantly higher probability of CD34 expression in patients with longer duration of epilepsy, independent of histology.
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Antígenos CD34/metabolismo , Neoplasias Encefálicas/complicaciones , Encéfalo/patología , Epilepsia , Glioma/complicaciones , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Encéfalo/diagnóstico por imagen , Niño , Electroencefalografía , Epilepsia/etiología , Epilepsia/metabolismo , Epilepsia/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Fosfopiruvato Hidratasa/metabolismo , Estudios Retrospectivos , Estadísticas no Paramétricas , Grabación en Video , Adulto JovenRESUMEN
The aim of this study was to evaluate the relationship between molecular markers and clinicopathological features in patients operated on for low-grade epilepsy-associated neuroepithelial tumors. Molecular-genetic signatures are becoming increasingly important in characterizing these lesions, which represent the second most common cause of focal epilepsy in patients undergoing epilepsy surgery. Data from 22 patients operated on for histopathologically confirmed low-grade epilepsy-associated neuroepithelial tumors were retrospectively collected. All specimens were examined for BRAF and IDH mutational status, 1p/19q codeletion and CD34 expression. The relationship between bio-molecular markers and several demographic, clinical and pathological features were analyzed. BRAF mutation was found in 11 (50.0%) patients and CD34 expression in 13 (59.1%). No patients presented IDH mutation or 1p/19q codeletion. Multiple seizure types were present in 5 (45.5%) patients with BRAF mutation and in none of those with BRAF wild type (p=0.035). Moreover, BRAF mutation was predominant in right-sided lesions (p=0.004) and CD34 expression was significantly associated with a longer duration of epilepsy (p=0.027). Several other clinicopathological features, such as association with focal cortical dysplasia and postoperative seizure outcome, showed no significant correlation with molecular markers. Further studies are necessary both to confirm these data in larger cohort of patients and to investigate possible relationships between molecular markers and other clinicopathological features.