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BACKGROUND: The Multidisciplinary Tumor Board (MTB) is a collaborative platform involving specialists in oncology, surgery, radiology, pathology, and radiotherapy, and aims to optimize diagnostics and treatments. Despite MTB's widespread benefits, limited literature addresses its application in pediatric neuro-oncology. After a literature revision on pediatric neuro-oncology MTB, our study describes our institute's pediatric neuro-oncology MTB, focuses on evaluating its impact and the neuroradiologist's role in patient-centric approaches, considering recent genetic insights into pediatric brain tumors. MATERIALS AND METHODS: Literature Review concerning pediatric neuro-oncology MTB from January 2002 to June 2024. CLINICAL DATA: retrospective study of all patient files presented in the pediatric neuro-oncology MTB (pnMTB) between 2019 and 2022. Statistical analysis was mainly carried out by directly comparing the absolute or relative values of the respective parameters examined; qualitative variables compared mainly with the chi-square test, quantitative variables mainly with the t-test. RESULTS: Literature Review: 7 papers encompass a multidisciplinary approach for the pediatric CNS tumors. CLINICAL DATA: A total of 236 discussions were analyzed representing 107 patients. Median age was 14,3 years (range: 6 months - 17 years). The requests for case evaluations primarily came from the pediatric oncologists (83%) and neurosurgeons (14.8%), and they were mainly addressed to the neuroradiologists (70.3%). Proposals during pnMTB mainly involved imaging follow-up (47.8%) and management with chemotherapy (34.7%). Changes in patient treatment (CPT) occurred in 115 cases, and pediatric neuroradiologist intervention contributed to 72.4% of these changes. CONCLUSION: Thanks to their multidisciplinarity, high number of cases discussed, and usual respect for their proposals, the pnMTB has made it possible to improve the coordination among specialties involved in patient management, to apply the recent protocols, and to exchange knowledge among teams managing pediatric CNS tumors.
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Neoplasias do Sistema Nervoso Central , Humanos , Criança , Adolescente , Estudos Retrospectivos , Pré-Escolar , Feminino , Masculino , Lactente , Neoplasias do Sistema Nervoso Central/terapia , Equipe de Assistência ao Paciente , Oncologia/métodos , Neoplasias Encefálicas/terapiaRESUMO
Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.
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Neurofibromatoses , Neurofibromatose 1 , Síndrome de Noonan , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Raízes Nervosas Espinhais/diagnóstico por imagem , MutaçãoRESUMO
BACKGROUND: Laminotomy has been introduced in surgical practice to reduce complications of laminectomy after surgery of tumors in the spinal canal. However, the posterior ligament complex, which is routinely interrupted to remove the laminoplasty segment and gain access to the spinal canal, has a tendency not to heal and can lead to progressive kyphosis and collapse. CASE PRESENTATION: A 5-month-old boy affected by a thoracolumbar extradural tumor extending along seven spinal levels was operated on. The tumor was exposed and completely resected by a one-piece laminotomy with preservation of the integrity of the posterior tension band at both extremities. After 1-year radiological examination ruled out spinal deformity. CONCLUSION: The technique herein presented, which we named in situ laminotomy, allows to fully preserve the posterior tension band without reducing the exposure of the spinal canal in multilevel tumors. Additionally, the technique makes also the reconstruction of the spine elements very easy and rapid. However, longer follow-up is necessary to prove the effectiveness of this procedure in preventing long-term deformity and instability.
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Neoplasias da Medula Espinal , Neoplasias da Coluna Vertebral , Masculino , Humanos , Criança , Lactente , Laminectomia/métodos , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Neoplasias da Coluna Vertebral/complicações , Coluna Vertebral/cirurgia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/cirurgia , Neoplasias da Medula Espinal/complicações , Canal Medular/cirurgiaRESUMO
Many qualitative and quantitative Magnetic Resonance Imaging (MRI) techniques have been applied to evaluate muscle fat degeneration in Duchenne muscular dystrophy (DMD) subjects, but only few studies have focused on the upper limbs. We reviewed the literature in order to evaluate the association between muscle MRI findings and motor function levels in the upper limbs of DMD patients. Ten studies with upper limb muscle MRI data were available. Four explored all upper limb segments, while six explored only the forearm. Functional assessments were performed in nine of the ten studies. All of the studies showed a significant correlation between muscle MRI changes and motor function levels in both ambulant and non-ambulant DMD patients.
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Distrofia Muscular de Duchenne , Antebraço , Humanos , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/diagnóstico por imagem , Extremidade Superior/diagnóstico por imagemRESUMO
Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5-16 years), and 17 non ambulant (age range 10-30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.
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Distrofia Muscular de Duchenne , Adolescente , Adulto , Criança , Pré-Escolar , Antebraço/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Músculo Esquelético/diagnóstico por imagem , Músculos , Distrofia Muscular de Duchenne/diagnóstico por imagem , Extremidade Superior/diagnóstico por imagem , Adulto JovemRESUMO
OBJECTIVE: To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradiologists' expertise affects completeness of reports. MATERIAL AND METHODS: Lower limbs' MRI reports of patients with IND produced by neuroradiologists with different level of expertise (> 15 years vs. < 15 years of experience in reading IND-MRI) before and after implementation of a SR template were included. Reports were assessed for the presence of 9 key features relevant for IND management. Reports and images were evaluated by neurologists who assessed: disease-specific muscular involvement pattern; presence of sufficient information to order the appropriate genetic/diagnostic tests; presence of sufficient information to make therapeutic decision/perform biopsy and necessity to review MRI images. Mann-Whitney and Fisher's exact tests were used to compare the number of key features for NSR and SR and neurologists' answers for reports produced by neuroradiologists with different experience. RESULTS: Thirty-one SRs and 101 NSRs were reviewed. A median of 8 and 6 key features was present in SR and NSR, respectively (p value < 0.0001). When reports were produced by less expert neuroradiologists, neurologists recognized muscular involvement pattern, had sufficient information for clinical decision-making/perform biopsy more often with SR than NSR (p values: < 0.0001), and needed to evaluate images less often with SR (p value: 0.0001). When reports produced by expert neuroradiologists were evaluated, no significant difference in neurologists' answers was observed. CONCLUSION: SR of IND-MRI contained more often clinically relevant information considered important for disease management than NSR. Radiologist's expertise affects completeness of NSR reports.
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Extremidade Inferior , Imageamento por Ressonância Magnética/métodos , Prontuários Médicos/normas , Doenças Neuromusculares/diagnóstico por imagem , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND: Pilocytic astrocytoma (PA) is the most common pediatric brain glioma and is considered the prototype of benign circumscribed astrocytoma. Despite its low malignancy, the CT and MRI features of brain PA may resemble those of much more aggressive brain tumors. Misdiagnosis of PA is particularly easy when it demonstrates MR morphological and non-morphological findings that are inconsistent with its non-aggressive nature and that overlap with the features of more aggressive brain tumors. METHOD: Basing on the evidence that the variation in the histological, genetic, and metabolic "fingerprint" for brain PA is dependent on tumor location, and the hypothesis that tumor location is related to the broad spectrum of morphological and non-morphological MR imaging findings, the authors discuss the MR imaging appearance of brain PA using a location-based approach to underline the typical and less typical imaging features and the main differential diagnosis of brain PA. A brief summary of the main pathological and clinical features, the natural history, and the treatment of brain PA is also provided. RESULT: A combination of morphological and non-morphological MR imaging features and a site-based approach to differential diagnosis are required for a pre-operative diagnosis. The new "cutting-edge" MR imaging sequences have the potential to impact the ease and confidence of pediatric brain tumor interpretation and offer a more efficient diagnostic work-up. CONCLUSIONS: Although the typical imaging features of brain pilocytic astrocytoma make radiological diagnosis relatively easy, an atypical and more aggressive appearance can lead to misdiagnosis. Knowing the broad spectrum of imaging characteristics on conventional and advanced MR imaging is important for accurate pre-operative radiological diagnosis and correctly interpreting changes during follow-up.
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Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico , Imageamento por Ressonância Magnética , Neuroimagem/métodos , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , HumanosRESUMO
INTRODUCTION: Advanced magnetic resonance imaging (MRI) techniques is an umbrella term that includes diffusion (DWI) and diffusion tensor (DTI), perfusion (PWI), spectroscopy (MRS), and functional (fMRI) imaging. These advanced modalities have improved the imaging of brain tumors and provided valuable additional information for treatment planning. Despite abundant literature on advanced MRI techniques in adult brain tumors, few reports exist for pediatric brain ones, potentially because of technical challenges. REVIEW OF THE LITERATURE: The authors review techniques and clinical applications of DWI, PWI, MRS, and fMRI, in the setting of pediatric hemispheric low-grade gliomas. PERSONAL EXPERIENCE: The authors propose their personal experience to highlight benefits and limits of advanced MR imaging in diagnosis, grading, and presurgical planning of pediatric hemispheric low-grade gliomas. DISCUSSION: Advanced techniques should be used as complementary tools to conventional MRI, and in theory, the combined use of the three techniques should ensure achieving the best results in the diagnosis of hemispheric low-grade glioma and in presurgical planning to maximize tumor resection and preserve brain function. FUTURE PERSPECTIVES: In the setting of pediatric neurooncology, these techniques can be used to distinguish low-grade from high-grade tumor. However, these methods have to be applied on a large scale to understand their real potential and clinical relapse, and further technical development is required to reduce the excessive scan times and other technical limitations.
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Neoplasias Encefálicas/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Glioma/diagnóstico por imagem , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Adolescente , Neoplasias Encefálicas/cirurgia , Criança , Feminino , Glioma/cirurgia , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Período Pré-OperatórioRESUMO
OBJECTIVE: Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status epilepticus (SE) is a recurrent feature, especially in a specific subgroup of CFC patients with developmental and epileptic encephalopathy (DEE) and history of severe pharmacoresistant epilepsy. Here we dissect the features of SE in CFC patients with a particular focus on longitudinal magnetic resonance imaging (MRI) findings to identify clinical-radiological patterns and discuss the underlying physiopathology. METHODS: We retrospectively analyzed clinical, electroencephalogram (EEG), and MRI data collected in a single center from a cohort of 23 patients with CFC carrying pathogenic BRAF variants who experienced SE during a 5-year period. RESULTS: Seven episodes of SE were documented in 5 CFC patients who underwent EEG and MRI at baseline. MRI was performed during SE/within 72 hours from SE termination in 5/7 events. Acute/early post-ictal MRI findings showed heterogenous abnormalities: restricted diffusion in 2/7, focal area of pcASL perfusion change in 2/7, focal cortical T2/FLAIR hyperintensity in 2/7. Follow-up images were available for 4/7 SE. No acute changes were detected in 2/7 (MRI performed 4 days after SE termination). SIGNIFICANCE: Acute focal neuroimaging changes concomitant with ictal EEG focus were present in 5/7 episodes, though with different findings. The heterogeneous patterns suggest different contributing factors, possibly including the presence of focal cortical malformations and autoinflammation. When cytotoxic edema is revealed by MRI, it can be followed by permanent structural damage, as already observed in other genetic conditions. A better understanding of the physiopathology will provide access to targeted treatments allowing to prevent long-term adverse neurological outcome. PLAIN LANGUAGE SUMMARY: Cardio-facio-cutaneous syndrome is a genetic disorder that often causes prolonged seizures known as status epilepticus. This study has a focus on electroclinical and neuroimaging patterns in patients with cardio-facio-cutaneous syndrome. During these status epilepticus episodes, we found different abnormal brain imaging patterns in patients, indicating various causes like brain malformations and inflammation. Understanding these patterns could help doctors find specific treatments, protecting cardio-facio-cutaneous syndrome patients from long-term brain damage.
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Displasia Ectodérmica , Epilepsia , Fácies , Insuficiência de Crescimento , Cardiopatias Congênitas , Estado Epiléptico , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos , Estado Epiléptico/diagnóstico por imagem , Estado Epiléptico/genética , NeuroimagemRESUMO
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56 mutations. All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. Significant alterations of myelination and white matter tract abnormalities were documented. The present study confirms the phenotypic overlap between GPR56-related brain dysgenesis and other cobblestone-like syndromes and illustrates the contribution of 3D neuroimaging in the characterization of malformations of cortical development.
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Encéfalo/diagnóstico por imagem , Lissencefalia Cobblestone/diagnóstico por imagem , Lissencefalia Cobblestone/genética , Mutação , Receptores Acoplados a Proteínas G/genética , Sequência de Bases , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Imagem de Tensor de Difusão , Feminino , Estudos de Associação Genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação/fisiologia , Fenótipo , RadiografiaRESUMO
PURPOSE: To assess the main imaging and clinical features in adult- and pediatric-onset atypical teratoid rhabdoid tumor (ATRT) in order to build a predefined pathway useful for the diagnosis. METHODS: We enrolled 11 ATRT patients (10 children, one adult) and we conducted a literature search on PubMed Central using the key terms "adult" or "pediatric" and "atypical teratoid/rhabdoid tumor". We collected clinical and neuroradiological data reported in previous studies and combined them with those from our case series. A three step process was built to reach diagnosis by identifying the main distinctive clinical and imaging features. RESULTS: Clinical evaluation: neurological symptoms were nonspecific. ATRT was more frequent in children under 3 years of age (7 out of 10 children) and infratentorial localization was reported more frequently in children under the age of 24 months. Midline/off-midline localization was influenced by the age. IMAGING FINDINGS: Preferential location near the ventricles and liquor spaces and the presence of eccentric cysts were hallmark for ATRT; higher frequency of peripheral cysts was detected in children and in the supratentorial compartment (five out of eight patients with solid-cystic ATRT). Leptomeningeal dissemination at diagnosis was common (5 out of 10 children), while intratumoral hemorrhage, calcifications, and high cellularity were non-specific findings. Histopathological analysis: specific immunohistochemical markers were essential to confirm the diagnosis. CONCLUSION: In younger children, a bulky, heterogeneous mass with eccentric cystic components and development near ventricles or cisternal spaces may be suggestive of ATRT. ATRT diagnosis is more challenging in adults and relies exclusively on neuropathological examination.
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Background: Neurofibromatosis type 1 (NF1)-related gliomas appear to have a clinical behavior different from that of sporadic cases. The purpose of the study was to investigate the role of different factors in influencing the tumor response rate of children receiving chemotherapy for their symptomatic glioma. Methods: Between 1995 and 2015, 60 patients with low-grade glioma (42 sporadic cases and 18 cases with NF1) were treated. Patients with brainstem gliomas were excluded. Thirty-nine patients underwent exclusive or postsurgical chemotherapy (vincristine/carboplatin-based regimen). Results: Disease reduction was achieved in 12 of the 28 patients (42.8%) with sporadic low-grade glioma and in 9 of the 11 patients (81.8%) with NF1, with a significant difference between the 2 groups (P < 0.05). The response to chemotherapy in both the patient groups was not significantly influenced by sex, age, tumor site, and histopathology, although disease reduction occurred more frequently in children aged under 3 years. Conclusions: Our study showed that pediatric patients with low-grade glioma and NF1 are more likely to respond to chemotherapy than those with non-NF1.
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Protocolos de Quimioterapia Combinada Antineoplásica , Glioma , Neurofibromatose 1 , Criança , Pré-Escolar , Humanos , Glioma/diagnóstico , Glioma/terapia , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Vincristina , CarboplatinaRESUMO
Background: Hypoxic-ischemic encephalopathy (HIE) represents one of the major causes of neonatal death and long-term neurological disability. Both hypoxic-ischemic insults and therapeutic hypothermia (TH) can affect respiratory function. Currently, there is no evidence regarding optimal respiratory management in these infants. Methods: This is a retrospective cohort study examining newborns with HIE treated with TH between January 2015 and September 2020. The study population was divided into two groups based on different respiratory assistance during TH: spontaneous breathing (Group A) or mechanical ventilation (Group B). The primary outcome of the study was the mean pCO2 ± SD evaluation during TH in ventilated and non-ventilated asphyxiated infants. The secondary outcome was the correlation between ventilation strategy and short-term neurologic outcome according to Rutherford et al.'s MRI scoring system. Results: A total of 126 newborns were enrolled, 75 in Group A and 51 in Group B. Respiratory management was individualized, and volume guarantee (VG) ventilation was the first choice for ventilated infants. Group B infants showed more severe conditions at birth. During TH, ventilated infants showed optimal mean pCO2 comparable with those breathing spontaneously (40.6â mmHg vs. 42.3â mmHg, respectively, p 0.091), with no significant difference in pCO2 standard deviation between (7.7â mmHg vs. 8.1â mmHg, respectively, p 0.522). Mean pH, pH standard deviation, mean pO2, pO2 standard deviation, and mean respiratory rate also did not differ between groups. MRI patterns of brain injury predictive of abnormal neurodevelopmental outcomes were similar in both groups. Logistic regression analysis demonstrated that only umbilical cord arterial blood pH-affected MRI lesions were associated with poor neurodevelopmental outcomes (OR 1.505; CI 95% 1.069-2.117). Conclusions: Infants cooled after HIE should receive individualized respiratory management, not necessarily involving intubation. In those infants requiring mechanical ventilation, a volume-targeted strategy appeared to be effective in maintaining stable blood gas levels. Short-term neurological outcomes appeared comparable in ventilated and non-ventilated infants.
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Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old patient with facial asymmetry caused by congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral HME. Although HME has been described as part of different syndromic diseases, the association of HME with CILF has been rarely reported. Our case and literature review suggest that when the diagnosis of CILF is suspected or established, the possible presence of associated HME has to be considered and a magnetic resonance imaging (MRI) must be performed even in absence of neurological features, not always present in early stages. MRI also demonstrates the involvement of intracranial structures outside the affected cerebral hemisphere, such as brain stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography of the brain provided detailed information on osseous hypertrophy and skull-base foramina enlargement.
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Encéfalo/anormalidades , Lipomatose/complicações , Malformações do Desenvolvimento Cortical/complicações , Encéfalo/patologia , Humanos , Lactente , Lipomatose/congênito , Lipomatose/patologia , Imageamento por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/patologiaRESUMO
OBJECTIVE: The aim of this paper is to demonstrate the usefulness of 2D multiplanar reformatting images (MPR) obtained from rotational acquisitions with cone-beam computed tomography technology during percutaneous extra-vascular spinal procedures performed in the angiography suite. METHODS: We used a 3D rotational angiographic unit with a flat panel detector. MPR images were obtained from a rotational acquisition of 8 s (240 images at 30 fps), tube rotation of 180° and after post-processing of 5 s by a local work-station. Multislice CT (MSCT) is the best guidance system for spinal approaches permitting direct tomographic visualization of each spinal structure. Many operators, however, are trained with fluoroscopy, it is less expensive, allows real-time guidance, and in many centers the angiography suite is more frequently available for percutaneous procedures. We present our 6-year experience in fluoroscopy-guided spinal procedures, which were performed under different conditions using MPR images. We illustrate cases of vertebroplasty, epidural injections, selective foraminal nerve root block, facet block, percutaneous treatment of disc herniation and spine biopsy, all performed with the help of MPR images for guidance and control in the event of difficult or anatomically complex access. RESULTS AND CONCLUSION: The integrated use of "CT-like" MPR images allows the execution of spinal procedures under fluoroscopy guidance alone in all cases of dorso-lumbar access, with evident limitation of risks and complications, and without need for recourse to MSCT guidance, thus eliminating CT-room time (often bearing high diagnostic charges), and avoiding organizational problems for procedures that need, for example, combined use of a C-arm in the CT room.
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Angiografia/instrumentação , Fluoroscopia , Doenças da Coluna Vertebral/terapia , Coluna Vertebral/patologia , Biópsia por Agulha/métodos , Humanos , Imageamento Tridimensional , Injeções Epidurais/métodos , Deslocamento do Disco Intervertebral/terapia , Bloqueio Nervoso/métodos , Radiografia Intervencionista , Doenças da Coluna Vertebral/patologia , Tomografia Computadorizada por Raios X , Vertebroplastia/métodosRESUMO
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with a prevalent peripheral nervous system impairment, due to mutations in the transthyretin gene. Considering the introduction of different disease-modifying therapies in the last few years, a need of reliable biomarkers is emerging. In this study, we evaluated muscle MRI in a cohort of ATTRv patients in order to establish if the severity of muscle involvement correlated with disease severity. Linear regression analysis showed a significant positive correlation between the total fatty infiltration score and NIS, NIS-LL, and Norfolk, and an inverse correlation with Sudoscan registered from feet. In conclusion, we demonstrated the role of muscle MRI in ATTRv as possible disease biomarker, both for diagnostic purposes and for assessing the severity of the disease.
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Neuropatias Amiloides Familiares/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Músculo Esquelético/diagnóstico por imagem , Idoso , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Projetos Piloto , Pré-Albumina/genéticaRESUMO
RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These disorders are multisystem diseases with considerable clinical overlap, even though distinct hallmarks are recognizable for each specific syndrome. Here we report on the presence of enlarged spinal nerve roots resembling neurofibromas, a typical neuroradiological finding of neurofibromatosis type 1, in two patients with a molecularly confirmed diagnosis of Noonan syndrome and cardio-facio-cutaneous syndrome, respectively. This evidence add enlarged spinal nerve roots as features shared among RASopathies. Future studies aiming to a better understanding of the molecular mechanisms leading to neurogenic tumor development in these patients are necessary to define their biological nature, evolution, prognosis and possible treatments.
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Displasia Ectodérmica/patologia , Insuficiência de Crescimento/patologia , Cardiopatias Congênitas/patologia , Síndrome de Noonan/patologia , Raízes Nervosas Espinhais/patologia , Criança , Displasia Ectodérmica/diagnóstico por imagem , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico por imagem , Insuficiência de Crescimento/genética , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/genética , Humanos , Masculino , Síndrome de Noonan/diagnóstico por imagem , Síndrome de Noonan/genética , Raízes Nervosas Espinhais/diagnóstico por imagem , Proteínas ras/genéticaRESUMO
The term autism spectrum disorder (ASD) includes a wide variability of clinical presentation, and this clinical heterogeneity seems to reflect a still unclear multifactorial etiopathogenesis, encompassing different genetic risk factors and susceptibility to environmental factors. Several studies and many theories recognize as mechanisms of autism a disruption of brain development and maturation time course, suggesting the existence of common neurobiological substrates, such as defective synaptic structure and aberrant brain connectivity. Magnetic resonance imaging (MRI) plays an important role in both assessment of region-specific structural changes and quantification of specific alterations in gray or white matter, which could lead to the identification of an MRI biomarker. In this study, we performed measurement of cortical thickness in a selected well-known group of preschool ASD subjects with the aim of finding correlation between cortical metrics and clinical scores to understand the underlying mechanism of symptoms and to support early clinical diagnosis. Our results confirm that recent brain MRI techniques combined with clinical data can provide some useful information in defining the cerebral regions involved in ASD although large sample studies with homogeneous analytical and multisite approaches are needed.
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PURPOSE: To evaluate whether arterial and venous color-coded mCTA score may predict clinical outcome in anterior circulation acute ischemic stroke. METHODS: Consecutive patients referred to the emergency department with anterior circulation acute ischemic stroke (AIS) were retrospectively reviewed at our center. All patients underwent multimodal brain computed tomography (CT) imaging, including non-contrast CT (NCCT) and multiphase computed tomography angiography (mCTA). Baseline collateral scores of color-coded mCTA, also known as ColorViz, and conventional mCTA were recorded. mCTA was assessed by a 6-point scale whereas color-coded mCTA was assessed by a 3-point scale. In the Color-coded maps, a different color is assigned to intracranial vessels based on the arrival time of the contrast medium and on a per-person adaptive threshold technique. We compared the radiological and clinical features of a group of patients who reached independency (defined as modified Rankin Scale score ≤ 2) with those of patients who did not. A multivariate logistic regression model was then used to assess the potential of color-coded mCTA scores to predict patients' outcome after AIS. RESULTS: A total of 86 patients (36 M, 50 F) were enrolled in the study. Multivariate logistic regression showed that score 3 at Color-coded mCTA was a good predictor of favorable outcome (p = 0.003). Moreover, NIHSS at onset (p = 0.004) and discharge (p < 0.001) along with ischemic core area (p = 0.011) were significant predictors of favorable prognosis. CONCLUSION: our data confirm that ColorViz is a useful and easily understandable neuroimaging tool that might have a predictive role in assessing the outcome of anterior circulation acute ischemic stroke patients regardless of revascularization therapy.
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Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Isquemia Encefálica/diagnóstico por imagem , Angiografia Cerebral , Angiografia por Tomografia Computadorizada , Humanos , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/terapia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
The COVID-19 pandemic has substantially stressed health care systems globally, subsequently reducing cancer care services and delaying treatments. Pediatric populations infected by COVID-19 have shown mild clinical symptoms compared to adults, perhaps due to decreased susceptibility. Several scientific societies and governments have released information on the management of patients with cancer, wherein they warn against exposure to SARS-CoV-2 infection and suggest continuing treatment. To determine the best diagnostic and therapeutic approach, multidisciplinary tumor boards should convene regularly, including through conference calls and telematics platforms. A prompt diagnostic workup may reduce children's suffering and prevent loss of confidence in the health care system among parents. Moreover, ensuring adequate support and information regarding measures for preventing SARS-CoV-2 infection in pediatric patients and their families is essential for avoiding panic and excessive stress, allowing early reporting of any suspected symptoms of cancer and, in turn, facilitating early diagnosis and prompt modulation of treatment.