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1.
Curr Med Imaging ; 2023 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-37691203

RESUMEN

The testis is a richly vascularized organ supplied by low-flow thin caliber vessels that are only partially detected by traditional Doppler systems, such as color and power Doppler. However, in the vascular representation, these techniques determine, albeit to different extents, a cut of the weak vessels due to the necessary application of wall filters that cut the disturbing frequencies responsible for artifacts generated by pulsations of the vascular walls and surrounding tissues. These filters cut a specific range of disturbing frequencies, regardless of whether they may be generated by low-flow vessels. Recently, a new technology, called Ultrasound Microvascular Imaging (MicroV) has been developed, which is particularly sensitive to slow flows. This new mode is based on new algorithms capable of better selecting the low frequencies according to the source of origin and cutting only the disturbing ones, saving the frequencies originating from really weak flows. When Ultrasound microvascular imaging is used, the vascular map is more detailed and composed of macro and microvasculature, with more subdivision branches, facilitating the interpretation of the normal and, consequently, the pathological. This review aims to describe the vascular architecture of the testis with Ultrasound Microvascular Imaging (MicroV) in healthy testis, compared to traditional color/power Doppler, related to normal anatomy.

2.
Acta Neurol Belg ; 123(4): 1355-1369, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36884202

RESUMEN

BACKGROUND: Paraneoplastic neurological syndromes (PNSs) are nonmetastatic complications of malignancy, defined by the presence of onconeural antibodies (ONAs). ONAs may be found in 60% of patients with central nervous system (CNS) involvement, and they are directed against intraneuronal antigens or channels, receptors or associated proteins located at the synaptic or extra-synaptic neuronal cell membrane. Given its rare incidence, there are few epidemiological case series on CNS-PNS. We aim to discuss the variability of CNS-PNSs etiology, clinical features, management and outcome, highlighting the importance of early recognition and appropriate treatment, leading to significant reduction of mortality and morbidity. METHODS: We retrospectively reviewed our 7-years single-center experience, and specifically discussed the underlying etiology, parenchymal CNS involvement, and the acute treatment response. Only cases fulfilling PNS Euronetwork criteria for definitive PNS were included. RESULTS: A total of 26 probable PNSs cases involving CNS were identified. We reported medical records of eleven (42.3%) illustrative cases, meeting the criteria of definite PNS and presenting variable clinical spectrum and different radiological appearances. Our series has a relative paucity of the most common syndromes and larger portion of clinical diagnosis with ONAs. Well-characterized ONAs had been detected in CSF of six patients. CONCLUSIONS: Our case series supports the utmost importance of early recognition of CNS-PNSs. Screening for occult malignancies should not be limited to patients with classical CNS syndrome. Empiric immunomodulatory therapy may be considered before the diagnostic evaluation is completed, in order to prevent unfavorable outcome. Late presentations should not discourage initiation of treatment.


Asunto(s)
Síndromes Paraneoplásicos del Sistema Nervioso , Síndromes Paraneoplásicos , Humanos , Estudios Retrospectivos , Anticuerpos , Síndromes Paraneoplásicos del Sistema Nervioso/diagnóstico , Sistema Nervioso Central , Neuronas , Síndromes Paraneoplásicos/complicaciones
3.
Interv Neuroradiol ; 29(3): 321-326, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35317639

RESUMEN

BACKGROUND: The development of HydroSoft coils (HSC) aims to reduce the high recurrence and retreatment rates observed in large brain aneurysms by improving primary brain aneurysm filling and thus occlusion efficacy. We compared clinical and angiographic effectiveness of bare platinum coils (BPC) versus second generation HSC for large intracranial aneurysms at our center. METHODS: We included 61 large aneurysms between 2015 and 2018, 29 embolized primarily using HSC and 32 treated with BPC. The aneurysm occlusion rates were assessed after 3 and 12 months with an MRI scan and at 6 moths with a control digital subtraction angiography (DSA) using the Raymond-Roy occlusion classification (RROC). Clinical outcomes were evaluated using the modified ranking scale (mRS). RESULTS: The observed immediate occlusion rate was slightly better in the BPC group, however, this group had a significant increase of progressive reperfusion at all imaging follow-up. Contrarily, the rate of complete occlusion increased significantly in the HSC group, starting from the 6 and 12-months follow-up. 7 aneurysms (11.4%) were re-treated (15.6% BPC and 6.9% HSC). The 6 and 12-months clinical data showed mRS score 0-1 in 96.7% of patients. CONCLUSIONS: In our single-center experience, the second generation HydroSoft coils were shown to be safe and effective for endovascular treatment of large intracranial aneurysms with encouraging clinical and angiographic results, also for ruptured aneurysms. Even if the validity is limited due to our small cohort size, HSC showed a significantly lower rate of recurrence at mid-term follow-up when compared to BPC.


Asunto(s)
Embolización Terapéutica , Aneurisma Intracraneal , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/terapia , Resultado del Tratamiento , Platino (Metal) , Embolización Terapéutica/métodos , Angiografía de Substracción Digital
4.
Biomedicines ; 10(11)2022 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-36428564

RESUMEN

Three-dimensional constructive interference in steady state (3D CISS) is a steady-state gradient-echo sequence in magnetic resonance imaging (MRI) that has been used in an increasing number of applications in the study of brain disease in recent years. Owing to the very high spatial resolution, the strong hyperintensity of the cerebrospinal fluid signal and the high contrast-to-noise ratio, 3D CISS can be employed in a wide range of scenarios, ranging from the traditional study of cranial nerves, the ventricular system, the subarachnoid cisterns and related pathology to more recently discussed applications, such as the fundamental role it can assume in the setting of acute ischemic stroke, vascular malformations, infections and several brain tumors. In this review, after briefly summarizing its fundamental physical principles, we examine in detail the various applications of 3D CISS in brain imaging, providing numerous representative cases, so as to help radiologists improve its use in imaging protocols in daily clinical practice.

5.
Heliyon ; 8(8): e10288, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36046522

RESUMEN

Background and purpose: Endovascular treatment (EVT) is a time-dependent procedure that aims to remove the arterial blood flow obstruction in brain vessels in acute ischemic stroke. In our center, the MRI patient selection protocol in acute ischemic stroke is performed with DWI, FLAIR, MR angiography (MRA) and MR cisternography (MRC) sequences. MRA and MRC are promptly and automatically fused in order to have a clear detection of vessel anatomy, before and during EVT.Our study aim is to evaluate if the fusion process between MRA and MRC could be considered time-safe and could influence EVT duration or outcome. Materials and methods: 45 patients were retrospectively selected for the study and divided into 2 groups according to the presence of MRC sequence fused with MRA (Group 1) or not (Group 2 - controls). Results: MRA and MRC fusion was able to depict vessel anatomy in all subjects of Group 1 (22 patients, 12 females; age 75.59 years ± 10.87). Group 1 presented EVT time reduction (p < 0.05; p = 0.040) (51.59 min ± 30.94) when compared to Group 2 (23 patients, 13 females; age 75.04 years ± 12.12) (71.96 min ± 34.55) of 20.37 min average. No differences between groups were detected evaluating: NIHSS at admission (p = 0.49) and discharge (p = 0.67), pre-stroke mRS (p = 0.89), mRS at 90 days (p = 0.62), ASPECT (p = 0.98) and ASPECT-DWI scores (p = 0.93), time from symptom onset to groin puncture (p = 0.80), thromboaspiration vs combined technique (p = 0.67), EVT success (p = 0.63). Conclusion: Fusion of MRA and MRC is a safe and promising technique in promptly revealing vascular anatomy beyond vessel obstruction, and can play a role in EVT duration reduction.

6.
Neuroradiology ; 64(7): 1457-1460, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35459956

RESUMEN

We describe how the fusion process between magnetic resonance angiography (MRA) and cisternography (MRC) promptly reveals vessel anatomy ahead of the clot, in patients affected by acute anterior circulation large vessel occlusion. This technique showed in 100% of subjects (n = 22) a clear tracing of vessel anatomy before and beyond the clot. The duration of the whole process is short and could be considered safe since no outcome differences have been found when compared with a control group (n = 23). This technique could play a relevant role in guiding endovascular therapy, especially in unexpected unfavorable anatomical arteries configurations.


Asunto(s)
Isquemia Encefálica , Procedimientos Endovasculares , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/terapia , Humanos , Angiografía por Resonancia Magnética/métodos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/terapia
7.
Jpn J Radiol ; 40(2): 192-201, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34515926

RESUMEN

INTRODUCTION: The power Doppler is a useful tool in the evaluation of pediatric acute scrotal pain. Nonetheless, it may have some inherent limitations in scrotal vascularization analysis, potentially causing unnecessary surgery. The microvascular imaging ultrasound (MicroV) is an innovative Doppler technique able to improve the detection of very low flow. This retrospective study aims to compare both power Doppler and MicroV in the evaluation of a pediatric population with early-stage scrotal pain onset, first in testis vascularization analysis, and second in their diagnostic performances. MATERIALS AND METHODS: 69 patients met the following inclusion criteria, age < 18-year-old, a clinical diagnosis of acute scrotal disease, pain onset ≤ 6 h, ultrasound examination (including B-mode, power Doppler, and MicroV), 3-months follow-up. For both power Doppler and MicroV, through a defined vascularization scale, it was evaluated the agreement in vascularization detection, and the sensitivity and specificity in US diagnostic abilities. RESULTS: Retrospective diagnoses were of 8 testicular torsion, 15 orchi-epididymitis, and 46 children with other scrotal conditions. Power Doppler provided inconclusive US evaluation in 37.68% of the cases, while MicroV only in the 1.45% (p < 0.0001). Testicular torsion and orchi-epididymitis were identified, respectively, with MicroV in 100% (sensitivity, specificity, PPV, NPV, and accuracy of 100%) and 80% of patients (80% sensitivity, 100% specificity and PPV, 94.73% NPV, 95.65% accuracy); with power Doppler the identification was, respectively, of 87.5% (87.5% sensitivity, 100% specificity and PPV, 98.38% NPV and accuracy) and of 73.3% (73.33% sensitivity, 98.14% specificity, 91.66% PPV, 92.98% NPV, 92.75% accuracy). CONCLUSIONS: Our findings indicate that MicroV is a reliable technique in vascularization detection of pediatric testes, being able also to detect vascularization in healthy testicles with no-flow at power Doppler examination. Moreover, MicroV could be a valuable ally in the US diagnostic of children with early-stage scrotal pain onset.


Asunto(s)
Dolor Agudo , Torsión del Cordón Espermático , Adolescente , Niño , Humanos , Masculino , Estudios Retrospectivos , Escroto/diagnóstico por imagen , Ultrasonografía
8.
Insights Imaging ; 12(1): 179, 2021 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-34862955

RESUMEN

All substances exert magnetic properties in some extent when placed in an external magnetic field. Magnetic susceptibility represents a measure of the magnitude of magnetization of a certain substance when the external magnetic field is applied. Depending on the tendency to be repelled or attracted by the magnetic field and in the latter case on the magnitude of this effect, materials can be classified as diamagnetic or paramagnetic, superparamagnetic and ferromagnetic, respectively. Knowledge of type and extent of susceptibility of common endogenous and exogenous substances and how their magnetic properties affect the conventional sequences used in magnetic resonance imaging (MRI) can help recognize them and exalt or minimize their presence in the acquired images, so as to improve diagnosis in a wide variety of benign and malignant diseases. Furthermore, in the context of diamagnetic susceptibility, chemical shift imaging enables to assess the intra-voxel ratio between water and fat content, analyzing the tissue composition of various organs and allowing a precise fat quantification. The following article reviews the fundamental physical principles of magnetic susceptibility and examines the magnetic properties of the principal endogenous and exogenous substances of interest in MRI, providing potential through representative cases for improved diagnosis in daily clinical routine.

9.
Heliyon ; 7(9): e08040, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34604563

RESUMEN

BACKGROUND: Vascular intracranial stenosis (IS) is a significant cause of acute ischemic stroke (AIS). This single-center study aims to show that symptomatic IS treatment by using the Neuroform Atlas stent (Stryker neurovascular, Kalamazoo, MI, USA) could be effective in reducing vessel stenosis. METHODS: Ten patients affected by AIS or TIA, in the vascular territory of high-grade intracranial atherosclerotic lesions (>70% of vessel stenosis), older than 18-year-old, were treated by implanting a Neuroform Atlas stent (diameter of 4.5mm in 80% and 4mm in 20%). 70% of the patients underwent pre-stenting intracranial angioplasty. RESULTS: Patients were between 54.8 and 83 years old (mean 68.46y ± 8.44y), 70% males and 30% females. At admission, 50% of all patients had an AIS and 50% a TIA. Restoration of the stenotic lumen was obtained after the endovascular procedure. The percentage mean of vascular stenosis was 83.7% ± 6.09% before treatment (t0), 52.2% ± 10.42% at the end of treatment (t1) and 46.2% ± 8.28% at the follow-up (t2). The IS percentage mean reduction between t0 and t1 was 31.5% ± 7.31%, and between t1 and t2 was 6% ± 5.47%, t0 and t2 of 37.5% ± 7.38%. Percentage reduction of IS was highly significant between time t0 and t1 (p = 0.005), and t0 and t2 (p = 0.005), also with a significant reduction between t1 and t2 (p = 0.012). No patient had experienced an increase of the ischemic area in the vascular territory of the target vessel at 3 months from the initial assessment. 10% of patients experienced a 3-months negative outcome (mRS = 5), 90% experienced a favorable outcome (mRS ≤2). CONCLUSIONS: Intracranial stenosis endovascular treatment with Neuroform Atlas stent provides encouraging results, with a statistically significant association between the vascular caliber improvement and the endovascular treatment.

10.
Clin Case Rep ; 9(4): 1999-2006, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33936629

RESUMEN

Neurocutaneous melanosis (NCM) is a rare phakomatosis that may be associated with intracerebral masses. The differential diagnosis of intracerebral masses in NCM is often challenging and should include pigmented and nonpigmented lesions.

11.
Curr Med Imaging ; 17(12): 1391-1402, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34047260

RESUMEN

BACKGROUND: Neurocutaneous Melanosis (NCM) is a rare nonfamilial phakomatosis characterized by the presence of congenital melanocytic nevi and abnormal melanocyte infiltration of the leptomeninges. OBJECTIVE AND METHODS: This paper shows the importance of early diagnosis and the most important imaging features of the disease on CT and MR scans. PubMed database was searched from January 1972 to September 2020. Papers including imaging findings of NCM, clinical, follow-up, and treatment features were collected, selecting only 89 studies. DISCUSSION: NCM is a term used for the first time by van Bogaert in 1948. It refers to a condition caused by an error during morphogenesis and migration leading to leptomeningeal melanocytic accumulation. Although histological findings are the gold standard for diagnosis confirmation, neuroimaging and clinical features strongly support the suspect of NCM. Localization and extension of the lesions are predictive of neurological manifestations related to increased intracranial pressure, mass lesions, or spinal cord compression. CT demonstrates sites of increased density in the anterior temporal lobe, mainly the amygdala, thalami, cerebellum, and frontal lobes base. However, MRI is the best imaging method to diagnose central nervous system lesions, often appearing as T1-short signal areas of the cerebral parenchyma, indicative of central nervous system melanosis. MRI can also reveal associated intracranial and intraspinal abnormalities. CONCLUSION: Early imaging, when available, is helpful if NCM suspect is raised and may be of guidance in comparing later studies. NCM requires a multidisciplinary approach since it is a multisystem disease with a genetic component.


Asunto(s)
Melanosis , Síndromes Neurocutáneos , Niño , Humanos , Imagen por Resonancia Magnética , Síndromes Neurocutáneos/diagnóstico por imagen , Neuroimagen
12.
Medicine (Baltimore) ; 100(8): e24552, 2021 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-33663062

RESUMEN

ABSTRACT: Although myocarditis can be a severe cardiac complication of COVID-19 patients, few data are available in the literature about the incidence and clinical significance in patients affected by SARS-CoV-2. This study aims to describe the prevalence and the clinical features of suspected myocarditis in 3 cohorts of patients hospitalized for COVID-19. We retrospectively evaluated all the consecutive patients admitted for COVID-19 without exclusion criteria. Suspect myocarditis was defined according to current guidelines. Age, sex, in-hospital death, length of stay, comorbidities, serum cardiac markers, interleukin-6, electrocardiogram, echocardiogram, and therapy were recorded. Between March 4 to May 20, 2020, 1169 patients with COVID-19 were admitted in 3 Italian Medicine wards. 12 patients (1%) had suspected acute myocarditis; 5 (41.7%) were men, mean age was 76 (SD 11.34; median 78.5 years); length of stay was 38 days on average (SD 8, median value 37.5); 3 (25%) patients died. 8 (66.7%) had a history of cardiac disease; 7 (58.33%) patients had other comorbidities like diabetes, chronic obstructive pulmonary disease, or renal insufficiency. Myocarditis patients had no difference in sex prevalence, rate of death, comorbidities, elevations in serum cardiac markers as compared with patients without myocardial involvement. Otherwise, there was a significantly higher need for oxygen-support and a higher prevalence of cardiac disease in the myocarditis group. Patients with suspected myocarditis were older, had a higher frequency of previous cardiac disease, and significantly more prolonged hospitalization and a lower value of interleukin-6 than other COVID-19 patients. Further studies, specifically designed on this issue, are warranted.


Asunto(s)
COVID-19/complicaciones , Miocarditis/etiología , Factores de Edad , Anciano , Anciano de 80 o más Años , COVID-19/mortalidad , COVID-19/fisiopatología , Comorbilidad , Electrocardiografía , Femenino , Mortalidad Hospitalaria , Humanos , Interleucina-6/sangre , Italia/epidemiología , Tiempo de Internación , Masculino , Persona de Mediana Edad , Miocarditis/fisiopatología , Terapia por Inhalación de Oxígeno , Estudios Retrospectivos , SARS-CoV-2 , Factores Sexuales
13.
Mult Scler ; 27(1): 107-116, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33146069

RESUMEN

OBJECTIVE: To build a model to predict cognitive status reflecting structural, functional, and white matter integrity changes in early multiple sclerosis (MS). METHODS: Based on Symbol Digit Modalities Test (SDMT) performance, 183 early MS patients were assigned "lower" or "higher" performance groups. Three-dimensional (3D)-T2, T1, diffusion weighted, and resting-state magnetic resonance imaging (MRI) data were acquired in 3T. Using Random Forest, five models were trained to classify patients into two groups based on 1-demographic/clinical, 2-lesion volume/location, 3-local/global tissue volume, 4-local/global diffusion tensor imaging, and 5-whole-brain resting-state-functional-connectivity measures. In a final model, all important features from previous models were concatenated. Area under the receiver operating characteristic curve (AUC) values were calculated to evaluate classifier performance. RESULTS: The highest AUC value (0.90) was achieved by concatenating all important features from neuroimaging models. The top 10 contributing variables included volumes of bilateral nucleus accumbens and right thalamus, mean diffusivity of left cingulum-angular bundle, and functional connectivity among hubs of seven large-scale networks. CONCLUSION: These results provide an indication of a non-random brain pattern mostly compromising areas involved in attentional processes specific to patients who perform worse in SDMT. High accuracy of the final model supports this pattern as a potential neuroimaging biomarker of subtle cognitive changes in early MS.


Asunto(s)
Esclerosis Múltiple , Encéfalo/diagnóstico por imagen , Imagen de Difusión Tensora , Humanos , Aprendizaje Automático , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico por imagen , Pruebas Neuropsicológicas
14.
Neurol Sci ; 42(6): 2411-2419, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33067680

RESUMEN

Pompe disease is a rare hereditary metabolic disorder caused by α-glucosidase (GAA) deficiency. The late-onset form of the disease (LOPD) is considered a multisystemic disorder which could involve vascular system with cerebrovascular abnormalities such as intracranial aneurysms or dolichoectasia. Intracranial aneurysm rupture may represent a life-threatening emergency. A possible treatment of unruptured intracranial aneurysms (UIAs) should consider both aneurysm-related (aneurysmal size, shape, localization, numbers and hemodynamic factors) and patient-related risk factors (patient's age and sex, hypertension, smoke exposure). Moreover, UIAs management of LOPD patients needs also to take into account the altered blood vessels integrity and elasticity, whose consistency is likely weakened by the deficient GAA activity as a further potential risk factor. We herein present our approach for of UIAs management in three patients with LOPD. Among them, only one patient with a left saccular UIA of the anterior communicating artery, after careful consideration of risk factors, underwent the endovascular treatment. The other two patients were scheduled for a 1-year follow-up, according to radiological, clinical, and risk evaluation features. Finally, we would like to suggest some general recommendations for UIAs management. In particular, if no risk factors are identified, a cautious yearly follow-up is suggested; otherwise, if risk factors are present, endovascular treatment should be considered.


Asunto(s)
Aneurisma Roto , Enfermedad del Almacenamiento de Glucógeno Tipo II , Aneurisma Intracraneal , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Humanos , Aneurisma Intracraneal/complicaciones , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/terapia , Factores de Riesgo , alfa-Glucosidasas
15.
Emerg Radiol ; 28(1): 209-214, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32591921

RESUMEN

Acute scrotal pain is one of the most frequent symptoms in pediatric patients visited in the Emergency Department. Ultrasonography with color and power Doppler represents the first-line method that clinicians use to carry out the differential diagnosis between spermatic cord torsion and inflammation, but sensitivity and specificity are 63-100% and 97-100%, respectively; this variability may be related to operator's experience and testis vascular hemodynamics and also to machine performance and patient age. Recent technological innovations have made possible to create a new Doppler mode called ultrasound microvascular imaging. This technique exploits algorithms capable of separating low frequencies of static tissue artifacts from ones of very weak flows. It is known as MicroV (from Esaote) and Superb microvascular imaging (from Toshiba). It provides both macrocirculation vascular maps, as a typical Doppler feature, and microcirculation vascular maps. Furthermore, the use of background subtraction could improve the visibility of small vascular structures. We report a case of a pediatric patient suffering from acute scrotal pain assessed ultrasonographically with this innovative Doppler technique (MicroV) that may give more confidence in detecting testicular vascular signals if compared with traditional Doppler techniques.


Asunto(s)
Dolor Agudo/diagnóstico por imagen , Torsión del Cordón Espermático/diagnóstico por imagen , Ultrasonografía Doppler en Color/métodos , Adolescente , Diagnóstico Diferencial , Humanos , Masculino , Torsión del Cordón Espermático/cirugía
16.
Int J Mol Sci ; 21(12)2020 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-32560555

RESUMEN

Brain arteriovenous malformation (bAVM) is a congenital defect affecting brain microvasculature, characterized by a direct shunt from arterioles to venules. Germline mutations in several genes related to transforming growth factor beta (TGF-ß)/BMP signaling are linked to both sporadic and hereditary phenotypes. However, the low incidence of inherited cases makes the genetic bases of the disease unclear. To increase this knowledge, we performed a whole exome sequencing on five patients, on DNA purified by peripheral blood. Variants were filtered based on frequency and functional class. Those selected were validated by Sanger sequencing. Genes carrying selected variants were prioritized to relate these genes with those already known to be linked to bAVM development. Most of the prioritized genes showed a correlation with the TGF-ßNotch signaling and vessel morphogenesis. However, two novel pathways related to cilia morphogenesis and ion homeostasis were enriched in mutated genes. These results suggest novel insights on sporadic bAVM onset and confirm its genetic heterogeneity. The high frequency of germline variants in genes related to TGF-ß signaling allows us to hypothesize bAVM as a complex trait resulting from the co-existence of low-penetrance loci. Deeper knowledge on bAVM genetics can improve personalized diagnosis and can be helpful with genotype-phenotype correlations.


Asunto(s)
Células Endoteliales/metabolismo , Mutación de Línea Germinal , Homeostasis , Malformaciones Arteriovenosas Intracraneales/diagnóstico , Malformaciones Arteriovenosas Intracraneales/genética , Transducción de Señal , Biología Computacional/métodos , Ontología de Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Reproducibilidad de los Resultados , Análisis de Secuencia de ADN , Secuenciación del Exoma
17.
Radiol Med ; 125(3): 280-287, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31823293

RESUMEN

OBJECTIVE: To report our experience with the use of intravoxel incoherent motion (IVIM) magnetic resonance imaging (MRI) and dynamic contrast-enhanced (DCE)-MRI in bone marrow before and after administration of granulocyte colony-stimulating factor (GCSF). Moreover, a small series of patients with bone metastases from breast cancer have been evaluated by IVIM DW-MRI and DCE-MRI before and after GCSF administration. MATERIALS AND METHODS: We studied with IVIM-MRI and DCE-MRI 14 patients with rectal or uterine cervix cancer studied before and 4-18 days after administration of GCSF; the second MR examination was obtained after three chemotherapy courses. IVIM perfusion fraction (f), pseudo-diffusion coefficient (D*), true diffusion coefficient (D) and apparent diffusion coefficient (ADC) as well area under the curve at 60 s (AUC60) were calculated for bone marrow before and after GCSF administration. Moreover, two different IVIM parametric maps (i.e., ADC and ADClow) were generated by selecting two different intervals of b values (0-1000 and 0-80, respectively). Furthermore, four patients affected by pelvic bone metastases from breast adenocarcinoma who received GCSF administration were also qualitatively evaluated for evidence of lesions on ADC maps, ADClow maps and DCE-MRI. RESULTS: ADC, D, D*, f and AUC60 values were significantly higher in hyperplastic bone marrow than in untreated bone marrow (p values < 0.0001, < 0.0001, < 0.001, < 0.001, < 0.0001, respectively). All bone metastases were clearly differentiable from hyperplastic bone marrow on ADClow maps, but not on ADC maps and DCE-MRI. CONCLUSION: MR functional imaging techniques, such as DW-, IVIM DW- and DCE-MRI are effective tools in assessing the response of bone marrow to the administration of growth factors. Although an overlap between signal of hyperplastic bone marrow and lytic bone metastases can occur on ADC maps and DCE-MRI, evaluation of ADClow maps by IVIM DW-MRI could permit to differentiate hyperplastic bone marrow from lytic bone metastases. Further studies are needed to confirm our data.


Asunto(s)
Médula Ósea/efectos de los fármacos , Médula Ósea/diagnóstico por imagen , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/secundario , Imagen de Difusión por Resonancia Magnética/métodos , Factor Estimulante de Colonias de Granulocitos/farmacología , Adulto , Anciano , Área Bajo la Curva , Médula Ósea/patología , Neoplasias de la Mama/patología , Medios de Contraste , Femenino , Humanos , Hiperplasia/diagnóstico por imagen , Hiperplasia/patología , Masculino , Persona de Mediana Edad , Huesos Pélvicos/diagnóstico por imagen , Neoplasias del Recto/tratamiento farmacológico , Neoplasias del Recto/patología , Factores de Tiempo , Neoplasias del Cuello Uterino/tratamiento farmacológico , Neoplasias del Cuello Uterino/patología
18.
Radiat Oncol ; 14(1): 65, 2019 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-30992043

RESUMEN

BACKGROUND: The differential diagnosis between radiation necrosis, tumor recurrence and tumor progression is crucial for the evaluation of treatment response and treatment planning. The appearance of treatment-induced tissue necrosis on conventional Magnetic Resonance Imaging (MRI) is similar to brain tumor recurrence and it could be difficult to differentiate the two entities on follow-up MRI examinations. Dynamic Susceptibility Contrast-enhanced (DSC) and Dynamic Contrast-Enhanced (DCE) are MRI perfusion techniques that use an exogenous, intravascular, non-diffusible gadolinium-based contrast agent. The aim of this study was to compare the diagnostic accuracy of DSC and DCE perfusion MRI in the differential diagnosis between radiation necrosis and tumor recurrence, in the follow-up of primary and metastatic intra-axial brain tumors after Stereotactic RadioSurgery (SRS) performed with CyberKnife. METHODS: A total of 72 enhancing lesions (57 brain metastases and 15 primary brain tumors) were analyzed with DCE and DSC, by means of MRI acquisition performed by 1,5 Tesla MR scanner. The statistical relationship between the diagnosis of tumor recurrence or radiation necrosis, decided according to clinicoradiologically criteria, rCBV and Ktrans was evaluated by the point-biserial correlation coefficient respectively. RESULTS: The statistical analysis showed a correlation between the diagnosis of radiation necrosis or recurrent tumor with Ktrans (rpb = 0.54, p < 0.001) and with rCBV (rpb = 0.37, p = 0.002). The ROC analysis of rCBV values demonstrated a good classification ability in differentiating radiation necrosis from tumour recurrence as well as the Ktrans. The optimal cut-off value for rCBV was k = 1.23 with 0.88 of sensitivity and 0.75 of specificity while for Ktrans was k = 28.76 with 0.89 of sensitivity and 0.97 of specificity. CONCLUSIONS: MRI perfusion techniques, particularly DCE, help in the differential diagnosis by tumor recurrence and radiation necrosis during the follow-up after radiosurgery.


Asunto(s)
Neoplasias Encefálicas/secundario , Medios de Contraste , Angiografía por Resonancia Magnética/métodos , Radiocirugia/métodos , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Encefálicas/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Curva ROC , Estudios Retrospectivos
19.
J Neuroimaging ; 29(4): 458-462, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-30892794

RESUMEN

BACKGROUND AND PURPOSE: Deep gray matter (DGM) atrophy has been shown at early stages of multiple sclerosis (MS) and reported as an informative marker of cognitive dysfunction and clinical progression. Therefore, accurate measurement of DGM structure volume is a key priority in MS research. Findings from prior studies have shown that hypointense T1 lesions may impact the accuracy of global brain volume measures; however, literature on the effects of hypointense T1 lesions on DGM structure volumes is sparse. METHODS: We explored the effects of hypointense T1 lesions on data from 54 relapsing remitting MS patients. Lesions were segmented both manually and with a freely available automatic lesion segmentation/in-painting algorithm (Lesion Segmentation Tool-LST). Volumes of 14 DGM structures were calculated from non-in-painted and in-painted images and compared via paired t-tests, intraclass correlation coefficient, and Dice similarity coefficient. RESULTS: There were no significant differences in DGM structural volumes between non-in-painted and in-painted images. Automatic lesion-segmentation/in-painting tool provided similar results to manual segmentation/in-painting. CONCLUSIONS: Our results suggest that lesion in-painting has a negligible impact on DGM structure volume measurement although some regions are more vulnerable to the impact of lesions than others. Furthermore, manual lesion segmentation/in-painting can be replaced by an automatic segmentation/in-painting process.


Asunto(s)
Encéfalo/diagnóstico por imagen , Sustancia Gris/diagnóstico por imagen , Esclerosis Múltiple/diagnóstico por imagen , Adulto , Atrofia/diagnóstico por imagen , Atrofia/patología , Encéfalo/patología , Progresión de la Enfermedad , Femenino , Sustancia Gris/patología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/patología
20.
Neurol Sci ; 40(5): 915-922, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30604335

RESUMEN

Posterior reversible encephalopathy syndrome (PRES) is an encephalopathy characterized by a rapid onset of symptoms including headache, seizures, confusion, blurred vision, and nausea associated with a typical magnetic resonance imaging appearance of reversible subcortical vasogenic edema prominent and not exclusive of parieto-occipital lobes. Vasogenic edema is caused by a blood-brain barrier leak induced by endothelial damage or a severe arterial hypertension exceeding the limits of cerebral blood flow autoregulation. Although the exact pathophysiological mechanism is still unclear, frequent conditions that may induce PRES include severe hypertension, eclampsia/pre-eclampsia, acute kidney diseases and failure, immunosuppressive therapy, solid organ, or bone marrow transplantation. Conversely to other conditions, which may induce PRES, the link between severe infection or sepsis and PRES, often associated with gram-positive bacteria, is still poorly understood and less well known. Clinicians from multiple disciplines, such as neurologists and internists, may encounter during their profession patients with severe infection or sepsis and should consider the possible association between PRES and these conditions. We systematically reviewed the literature about this association in order to provide a helpful clinical insight of such complex pathophysiological mechanism, highlighting the importance of recognizing PRES in such a complex clinical scenario.


Asunto(s)
Infecciones/fisiopatología , Síndrome de Leucoencefalopatía Posterior/fisiopatología , Humanos
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