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1.
Neuroradiology ; 66(2): 271-278, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37993731

RESUMEN

PURPOSE: The use of magnetic resonance angiography (MRA) for assessing CNS fetal vasculature has been limited. The aim of this study was to determine the feasibility and added value of 2D time-of-flight (TOF) MRA of the fetal brain vasculature with a 1.5 T scanner. METHODS: We conducted a prospective study (September 2018 to October 2022) by consecutively selecting pregnant women (≥ 18 years) with clinical indication to fetal brain MRI. On a 1.5 T scanner, a 2D TOF MRA acquisition was obtained at the end of the clinical protocol. Two neuroradiologists independently reviewed all MRIs; a qualitative scale of motion artifacts was applied to MRA images; represented vessels in MRA and T2 images were registered. RESULTS: Thirty-five fetal brain MRIs. Mean maternal age: 32 years; mean fetal gestational age (GA): 31 weeks. Artifacts were found in 74% of MRA. The number of MRAs performed without artifacts increased with GA. On MRA, the identification of the majority of vessels increased with GA; statistical significance was reached in the identification of torcular Herophili (p = 0.026), vein of Galen (p < 0.001), internal cerebral veins (p = 0.002), basilar artery (p = 0.027), vertebral arteries (p = 0.025), and middle cerebral arteries (p = 0.044). Significantly, MRA depicted the sigmoid sinuses and internal jugular veins more frequently. Vascular pathology was found in 3/35 fetal brain MRIs. CONCLUSION: Although artifacts were found in 74% of cases, MRA acquisitions were informative and of sufficient diagnostic quality in most studies. This technique may represent a valuable complimentary tool in CNS prenatal vascular studies.


Asunto(s)
Arterias Cerebrales , Angiografía por Resonancia Magnética , Embarazo , Humanos , Femenino , Adulto , Angiografía por Resonancia Magnética/métodos , Angiografía Cerebral/métodos , Estudios Prospectivos , Estudios de Factibilidad , Encéfalo/diagnóstico por imagen , Encéfalo/irrigación sanguínea
2.
J Clin Immunol ; 43(8): 1903-1915, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37548814

RESUMEN

PURPOSE: To investigate computed tomography (CT) findings of Granulomatous Lymphocytic Interstitial Lung Disease (GL-ILD) in Common Variable Immunodeficiency (CVID), also in comparison with non-GL-ILD abnormalities, correlating GL-ILD features with functional/immunological parameters and looking for GL-ILD therapy predictive elements. METHODS: CT features of 38 GL-ILD and 38 matched non-GL-ILD subjects were retrospectively described. Correlations of GL-ILD features with functional/immunological features were assessed. A logistic regression was performed to find a predictive model of GL-ILD therapeutic decisions. RESULTS: Most common GL-ILD CT findings were bronchiectasis, non-perilymphatic nodules, consolidations, Ground Glass Opacities (GGO), bands and enlarged lymphnodes. GL-ILD was usually predominant in lower fields. Multiple small nodules (≤10 mm), consolidations, reticulations and fibrotic ILD are more indicative of GL-ILD. Bronchiectasis, GGO, Reticulations and fibrotic ILD correlated with decreased lung performance. Bronchiectasis, GGO and fibrotic ILD were associated with low IgA levels, whereas high CD4+ T cells percentage was related to GGO. Twenty out of 38 patients underwent GL-ILD therapy. A model combining Marginal Zone (MZ) B cells percentage, IgA levels, lower field consolidations and lymphnodes enlargement showed a good discriminatory capacity with regards to GL-ILD treatment. CONCLUSIONS: GL-ILD is a lower field predominant disease, commonly characterized by bronchiectasis, non-perilymphatic small nodules, consolidations, GGO and bands. Multiple small nodules, consolidations, reticulations and fibrotic ILD may suggest the presence of GL-ILD in CVID. MZ B cells percentage, IgA levels at diagnosis, lower field consolidations and mediastinal lymphnodes enlargement may predict the need of a specific GL-ILD therapy.


Asunto(s)
Bronquiectasia , Inmunodeficiencia Variable Común , Enfermedades Pulmonares Intersticiales , Humanos , Diagnóstico Diferencial , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/tratamiento farmacológico , Estudios Retrospectivos , Bronquiectasia/diagnóstico , Tomografía Computarizada por Rayos X , Enfermedades Pulmonares Intersticiales/diagnóstico , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Enfermedades Pulmonares Intersticiales/etiología , Inmunoglobulina A
3.
Curr Opin Infect Dis ; 36(4): 250-256, 2023 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-37431554

RESUMEN

PURPOSE OF REVIEW: In patients with hematological malignancies, high-resolution computed tomography (CT) is the recommended imaging approach for diagnosis, staging and monitoring of invasive fungal disease (IFD) but lacks specificity. We examined the status of current imaging modalities for IFD and possibilities for more effective applications of current technology for improving the specificity of IFD diagnosis. RECENT FINDINGS: Although CT imaging recommendations for IFD are largely unchanged in the last 20 years, improvements in CT scanner technology and image processing algorithms now allow for technically adequate examinations at much lower radiation doses. CT pulmonary angiography can improve both the sensitivity and specificity of CT imaging for angioinvasive molds in both neutropenic and nonneutropenic patients, through detection of the vessel occlusion sign (VOS). MRI-based approaches also show promise not only for early detection of small nodules and alveolar hemorrhage but can also be used to detect pulmonary vascular occlusion without radiation and iodinated contrast media. 18F-fluorodeoxyglucose (FDG) PET/computed tomography (FDG-PET/CT) is increasingly used to monitor long-term treatment response for IFD, but could become a more powerful diagnostic tool with the development of fungal-specific antibody imaging tracers. SUMMARY: High-risk hematology patients have a considerable medical need for more sensitive and specific imaging approaches for IFD. This need may be addressable, in part, by better exploiting recent progress in CT/MRI imaging technology and algorithms to improve the specificity of radiological diagnosis for IFD.


Asunto(s)
Infecciones Fúngicas Invasoras , Enfermedades Pulmonares Fúngicas , Tecnología Radiológica , Humanos , Neoplasias Hematológicas , Infecciones Fúngicas Invasoras/diagnóstico por imagen , Medición de Riesgo , Sensibilidad y Especificidad , Enfermedades Pulmonares Fúngicas/diagnóstico por imagen
4.
Mult Scler ; 29(13): 1526-1539, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37740714

RESUMEN

BACKGROUND: Leptomeningeal enhancement (LME) has been described as a biomarker of meningeal inflammation in multiple sclerosis (MS). OBJECTIVE: The aim of this study was to (1) assess if LME is predictive of disability worsening in progressive MS (pMS) patients and (2) investigate the pathological substrates of LME in an independent post-mortem MS series. METHODS: In total, 115 pMS patients were imaged yearly with 1.5T MRI, using post-contrast CUBE 3D FLAIR for LME detection. Endpoint: to identify the baseline variables predictive of confirmed disability worsening (CDW) at 24 months follow-up. Post-mortem, inflammation, and structural changes of the leptomeninges were assessed in 12 MS/8 control brains. RESULTS: LME (27% of patients at baseline) was associated with higher EDSS and lower brain volume (nBV). LME was unchanged in most patients over follow-up. LME at baseline MRI was independently associated with higher risk of 24 months CDW (HR 3.05, 95% CI 1.36-6.84, p = 0.007) in a Cox regression, including age, nBV, T2 lesion volume, high-efficacy treatments, and MRI disease activity. Post-mortem, focal structural changes (fibrosis) of the leptomeninges were observed in MS, usually associated with inflammation (Kendall's Tau 0.315, p < 0.0001). CONCLUSIONS: LME is frequently detected in pMS patients using 1.5T MRI and is independently predictive of disability progression. LME could result from both focal leptomeningeal post-inflammatory fibrosis and inflammation.


Asunto(s)
Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple , Humanos , Esclerosis Múltiple/patología , Esclerosis Múltiple Crónica Progresiva/diagnóstico por imagen , Esclerosis Múltiple Crónica Progresiva/patología , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Inflamación/patología
5.
Radiol Med ; 128(9): 1035-1046, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37515631

RESUMEN

PURPOSE: The pancreatic cancer (PC) is the 4th leading cancer-related death, becoming the second one by 2030, with a 5 year survival rate of 8%. Considering its increased incidence in high-risk categories compared to the general population, we aimed to validate a non-contrast MR protocol, to detect PC in its earliest phase, which could be suitable as a screening tool in high-risk patients. MATERIALS AND METHODS: In this retrospective study, we selected 200 patients (> 40 years) from our radiological database, which performed upper abdominal MRI between 2012 and 2017. 100 were negative for pancreatic lesions and 100 positive for pancreatic lesion (< 30 mm). The latter group included: 40 PDAC (pancreatic adenocarcinoma), 42 BD-IPMN (Branch Duct- Intraductal Papillary Mucinous Neoplasm), 10 PNET(pancreatic neuroendocrine tumor), 4 SCN(serous cystic neoplasm), 3 IPS(intrapancreatic spleen), 1 MCN(mucinous cystic neoplasm). Three readers (R1, R2 and R3) with a high, medium and low experience, respectively, analysed, first, the non-contrast MR sequences (single-shot T2w breath-hold, GE T1w FS, DWI and 2D/3D MRCP), and then the standard MR protocol, independently, randomly and anonymously. Readers identified or excluded the presence of pancreatic lesion, in both reading sessions. These results were compared with the histopathological diagnosis, and then divided into 3 different classes of lesions: all lesions, pancreatic adenocarcinoma and solid lesion. Mcnemar's test was used to compare the results. The inter-observer agreement was determined according to the kappa statistic in both protocols, and then the inter-protocol agreement was calculated. RESULTS: The non-contrast MR protocol has reached statistical parameters values ranging between 83% in SE (sensitivity) by R3 and 99% in NPV (negative predictive value) by R1. The standard MR protocol has reported slight increasing statistical parameters compared to those of the proposed one. However, there are not significant statistical differences between the both protocols. The proposed non-contrast MR protocol has reported the highest NPVs in the PDAC group detection (R1: 99%, R2: 99%, R3: 98%). In all groups of lesions, the agreement between the two protocols was excellent for each Reader ranging from 96 to 98%. CONCLUSION: The proposed non-contrast MR protocol showed high PC detection values and a time execution ≤ 20 min. Therefore, it can be proposed as a screening tool in high-risk patients.


Asunto(s)
Adenocarcinoma , Carcinoma Ductal Pancreático , Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/diagnóstico por imagen , Adenocarcinoma/diagnóstico por imagen , Estudios Retrospectivos , Imagen por Resonancia Magnética/métodos , Carcinoma Ductal Pancreático/diagnóstico por imagen , Carcinoma Ductal Pancreático/patología , Neoplasias Pancreáticas
6.
Int J Mol Sci ; 24(5)2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36902188

RESUMEN

Metabolic syndrome (MetS) is a common condition closely associated with non-alcoholic fatty liver disease/non-alcoholic steatohepatitis (NAFLD/NASH). Recent meta-analyses show that MetS can be prodromal to intrahepatic cholangiocarcinoma (iCCA) development, a liver tumor with features of biliary differentiation characterized by dense extracellular matrix (ECM) deposition. Since ECM remodeling is a key event in the vascular complications of MetS, we aimed at evaluating whether MetS patients with iCCA present qualitative and quantitative changes in the ECM able to incite biliary tumorigenesis. In 22 iCCAs with MetS undergoing surgical resection, we found a significantly increased deposition of osteopontin (OPN), tenascin C (TnC), and periostin (POSTN) compared to the matched peritumoral areas. Moreover, OPN deposition in MetS iCCAs was also significantly increased when compared to iCCA samples without MetS (non-MetS iCCAs, n = 44). OPN, TnC, and POSTN significantly stimulated cell motility and the cancer-stem-cell-like phenotype in HuCCT-1 (human iCCA cell line). In MetS iCCAs, fibrosis distribution and components differed quantitatively and qualitatively from non-MetS iCCAs. We therefore propose overexpression of OPN as a distinctive trait of MetS iCCA. Since OPN stimulates malignant properties of iCCA cells, it may provide an interesting predictive biomarker and a putative therapeutic target in MetS patients with iCCA.


Asunto(s)
Neoplasias de los Conductos Biliares , Colangiocarcinoma , Síndrome Metabólico , Humanos , Neoplasias de los Conductos Biliares/complicaciones , Conductos Biliares Intrahepáticos/metabolismo , Colangiocarcinoma/complicaciones , Síndrome Metabólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/metabolismo , Osteopontina/metabolismo
7.
Artículo en Inglés | MEDLINE | ID: mdl-37551099

RESUMEN

This report describes the case of a 46-year-old non-smoker housewife. She presented to our attention having a diagnosis of "difficult asthma" from another center in the previous two years. She had no allergies and had not been exposed to an excessive amount of noxious stimuli. Her chronic respiratory symptoms (dyspnea on exertion with wheezing) remained uncontrolled despite maximal anti-asthmatic inhaled therapy. An HRCT scan was performed to further investigate other pulmonary diseases that mimic asthma. It revealed a pedunculated endotracheal lesion with regular borders that obstructed 90% of the tracheal lumen. The lesion was removed via rigid bronchoscopy with laser endobronchial; histological examination revealed the presence of atypical carcinoid. Atypical carcinoids are a rare subtype of neuroendocrine lung tumor that accounts for 2% of all thoracic malignancies. They frequently arise from the central airways and cause obstructive symptoms such as coughing, wheezing, chest pain, or recurrent obstructing pneumonia, which is caused by central airway obstruction. Clinical onset is gradual and characterized by non-specific symptoms, which frequently result in misdiagnosis. As a result, in a young patient with progressive dyspnea, chronic cough, and wheezing that is not responding to anti-asthmatic treatment, second-level investigations are required and may lead to a definite diagnosis, allowing the appropriate course of treatment to begin.

8.
Lancet Oncol ; 23(5): e218-e228, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35489353

RESUMEN

Homogeneous and common objective disease assessments and standardised response criteria are important for better international clinical trials for CNS germ cell tumours. Currently, European protocols differ from those of North America (the USA and Canada) in terms of criteria to assess radiological disease response. An international working group of the European Society for Paediatric Oncology Brain Tumour Group and North American Children's Oncology Group was therefore established to review existing literature and current practices, identify major challenges regarding imaging assessment, and develop consensus recommendations for imaging response assessment for patients with CNS germ cell tumours. New clinical imaging standards were defined for the most common sites of CNS germ cell tumour and for the definition of locoregional extension. These new standards will allow the evaluation of response to therapy in patients with CNS germ cell tumours to be more consistent, and facilitate direct comparison of treatment outcomes across international studies.


Asunto(s)
Neoplasias Encefálicas , Neoplasias de Células Germinales y Embrionarias , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/terapia , Niño , Consenso , Diagnóstico por Imagen , Humanos , Neoplasias de Células Germinales y Embrionarias/diagnóstico por imagen , Neoplasias de Células Germinales y Embrionarias/terapia , Resultado del Tratamiento
9.
Hum Mol Genet ; 29(13): 2250-2260, 2020 08 03.
Artículo en Inglés | MEDLINE | ID: mdl-32533184

RESUMEN

We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that were visible at the MRI. Autozygome-based analysis showed that these children shared a 4.76 Mb region of homozygosity on chromosome 1, with an identical haplotype. Nonetheless, whole-exome sequencing failed to identify any shared rare coding variants, in this region or elsewhere. We then determined the transcriptome of patients' fibroblasts by RNA sequencing, followed by additional whole-genome sequencing experiments. Gene expression analysis revealed a 4-fold downregulation of the gene NMNAT1, residing indeed in the shared autozygous interval. Short- and long-read whole-genome sequencing highlighted a duplication involving 2 out of the 5 exons of NMNAT1 main isoform (NM_022787.3), leading to the production of aberrant mRNAs. Pathogenic variants in NMNAT1 have been previously shown to cause non-syndromic Leber congenital amaurosis (LCA). However, no patient with null biallelic mutations has ever been described, and murine Nmnat1 knockouts show embryonic lethality, indicating that complete absence of NMNAT1 activity is probably not compatible with life. The rearrangement found in our cases, presumably causing a strong but not complete reduction of enzymatic activity, may therefore result in an intermediate syndromic phenotype with respect to LCA and lethality.


Asunto(s)
Pérdida Auditiva Sensorineural/genética , Amaurosis Congénita de Leber/genética , Nicotinamida-Nucleótido Adenililtransferasa/genética , Osteocondrodisplasias/genética , Adolescente , Animales , Niño , Preescolar , Modelos Animales de Enfermedad , Exones/genética , Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/patología , Humanos , Lactante , Discapacidad Intelectual , Amaurosis Congénita de Leber/complicaciones , Amaurosis Congénita de Leber/patología , Masculino , Ratones , Mutación/genética , NAD/metabolismo , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/patología , Linaje , Degeneración Retiniana/genética , Degeneración Retiniana/patología
10.
Rheumatology (Oxford) ; 61(4): 1600-1609, 2022 04 11.
Artículo en Inglés | MEDLINE | ID: mdl-34320649

RESUMEN

OBJECTIVE: The aim of this study was to identify the main CT features that may help in distinguishing a progression of interstitial lung disease (ILD) secondary to SSc from COVID-19 pneumonia. METHODS: This multicentric study included 22 international readers grouped into a radiologist group (RADs) and a non-radiologist group (nRADs). A total of 99 patients, 52 with COVID-19 and 47 with SSc-ILD, were included in the study. RESULTS: Fibrosis inside focal ground-glass opacities (GGOs) in the upper lobes; fibrosis in the lower lobe GGOs; reticulations in lower lobes (especially if bilateral and symmetrical or associated with signs of fibrosis) were the CT features most frequently associated with SSc-ILD. The CT features most frequently associated with COVID- 19 pneumonia were: consolidation (CONS) in the lower lobes, CONS with peripheral (both central/peripheral or patchy distributions), anterior and posterior CONS and rounded-shaped GGOs in the lower lobes. After multivariate analysis, the presence of CONs in the lower lobes (P < 0.0001) and signs of fibrosis in GGOs in the lower lobes (P < 0.0001) remained independently associated with COVID-19 pneumonia and SSc-ILD, respectively. A predictive score was created that was positively associated with COVID-19 diagnosis (96.1% sensitivity and 83.3% specificity). CONCLUSION: CT diagnosis differentiating between COVID-19 pneumonia and SSc-ILD is possible through a combination of the proposed score and radiologic expertise. The presence of consolidation in the lower lobes may suggest COVID-19 pneumonia, while the presence of fibrosis inside GGOs may indicate SSc-ILD.


Asunto(s)
COVID-19 , Enfermedades Pulmonares Intersticiales , Esclerodermia Sistémica , COVID-19/complicaciones , COVID-19/diagnóstico por imagen , Prueba de COVID-19 , Fibrosis , Humanos , Pulmón/diagnóstico por imagen , Pulmón/patología , Enfermedades Pulmonares Intersticiales/complicaciones , Enfermedades Pulmonares Intersticiales/etiología , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/diagnóstico por imagen , Esclerodermia Sistémica/patología , Tomografía Computarizada por Rayos X
11.
Eur J Nucl Med Mol Imaging ; 49(11): 3852-3869, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35536420

RESUMEN

Positron emission tomography (PET) has been widely used in paediatric oncology. 2-Deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) is the most commonly used radiopharmaceutical for PET imaging. For oncological brain imaging, different amino acid PET radiopharmaceuticals have been introduced in the last years. The purpose of this document is to provide imaging specialists and clinicians guidelines for indication, acquisition, and interpretation of [18F]FDG and radiolabelled amino acid PET in paediatric patients affected by brain gliomas. There is no high level of evidence for all recommendations suggested in this paper. These recommendations represent instead the consensus opinion of experienced leaders in the field. Further studies are needed to reach evidence-based recommendations for the applications of [18F]FDG and radiolabelled amino acid PET in paediatric neuro-oncology. These recommendations are not intended to be a substitute for national and international legal or regulatory provisions and should be considered in the context of good practice in nuclear medicine. The present guidelines/standards were developed collaboratively by the EANM and SNMMI with the European Society for Paediatric Oncology (SIOPE) Brain Tumour Group and the Response Assessment in Paediatric Neuro-Oncology (RAPNO) working group. They summarize also the views of the Neuroimaging and Oncology and Theranostics Committees of the EANM and reflect recommendations for which the EANM and other societies cannot be held responsible.


Asunto(s)
Fluorodesoxiglucosa F18 , Glioma , Aminoácidos , Niño , Glioma/diagnóstico por imagen , Humanos , Tomografía de Emisión de Positrones/métodos , Radiofármacos
12.
Pediatr Blood Cancer ; 69(11): e29910, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35920594

RESUMEN

PURPOSE: To evaluate the prognostic value of texture analysis of the primary tumour with 18 fluorine-dihydroxyphenylalanine positron emission tomography/X-ray computed tomography (18 F-DOPA PET/CT) in patients affected by high-risk neuroblastoma (HR-NBL). METHODS: We retrospectively analysed 18 patients with HR-NBL, which had been prospectively enrolled in the course of a previous trial investigating the diagnostic role of 18 F-DOPA PET/CT at the time of the first onset. Texture analysis of the primary tumour was carried out on the PET images using LifeX. Conventional indices, histogram parameters, grey level co-occurrence (GLCM), run-length (GLRLM), neighbouring difference (NGLDM) and zone-length (GLZLM) matrices parameter were extracted; their values were compared with the overall metastatic load, expressed by means of whole-body metabolic burden (WBMB) score and the progression-free/overall survival (PFS and OS). RESULTS: There was a direct correlation between WBMB and radiomics parameter describing uptake intensity (SUVmean : p = .004) and voxel heterogeneity (entropy: p = .026; GLCM_Contrast: p = .001). Conversely, texture indices of homogeneity showed an inverse correlation with WBMB (energy: p = .026; GLCM_Homogeneity: p = .006). On the multivariate model, WBMB (p < .01) and the first standardised uptake value (SUV) quartile (p < .001) predicted PFS; OS was predicted by WBMB and the N-myc proto-oncogene protein (MYCN) amplification (p < .05) for both. CONCLUSIONS: Textural parameters describing heterogeneity and metabolic intensity of the primary HR-NBL are closely associated with its overall metastatic burden. In turn, the whole-body tumour load appears to be one of the most relevant predictors of progression-free and overall survival.


Asunto(s)
Neuroblastoma , Tomografía Computarizada por Tomografía de Emisión de Positrones , Dihidroxifenilalanina/análogos & derivados , Flúor , Fluorodesoxiglucosa F18 , Humanos , Proteína Proto-Oncogénica N-Myc , Neuroblastoma/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Pronóstico , Estudios Retrospectivos
13.
Neuropediatrics ; 53(1): 69-74, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34852372

RESUMEN

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.


Asunto(s)
Epilepsia , Hemiplejía , Niño , Epilepsia/diagnóstico , Epilepsia/genética , Proteínas Activadoras de GTPasa/genética , Hemiplejía/diagnóstico , Hemiplejía/genética , Humanos , Mutación , Convulsiones
14.
J Pediatr Hematol Oncol ; 44(1): e168-e175, 2022 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-33661175

RESUMEN

OBJECTIVES: Drug resistant epilepsy has rarely been reported following posterior reversible encephalopathy syndrome (PRES), with few cases of mesial temporal sclerosis (MTS). The aim of this study was to report clinical and neuroimaging features of MTS subsequent to PRES in hemato-oncologic/stem cell transplanted children. MATERIALS AND METHODS: Among 70 children treated in 2 pediatric hemato-oncologic Italian centers between 1994 and 2018 and presenting an episode of PRES, we retrospectively identified and analyzed a subgroup of patients who developed epilepsy and MTS. RESULTS: Nine of 70 patients (12.8%) developed post-PRES persistent seizures with magnetic resonance imaging evidence of MTS. One patient died few months after MTS diagnosis, because of hematologic complications; the remaining 8 patients showed unprovoked seizures over time leading to the diagnosis of epilepsy, focal in all and drug resistant in 4. At PRES diagnosis, all patients with further evidence of epilepsy and MTS suffered of convulsive seizures, evolving into status epilepticus in 3. In 3 patients a borderline cognitive level or intellectual disability were diagnosed after the onset of epilepsy, and 2 had behavioral problems impacting their quality of life. CONCLUSIONS: MTS and long-term focal epilepsy, along with potential cognitive and behavioral disorders, are not uncommon in older pediatric patients following PRES.


Asunto(s)
Electroencefalografía , Epilepsia , Neoplasias Hematológicas , Imagen por Resonancia Magnética , Síndrome de Leucoencefalopatía Posterior , Convulsiones , Adolescente , Niño , Preescolar , Epilepsia/diagnóstico por imagen , Epilepsia/epidemiología , Epilepsia/fisiopatología , Femenino , Neoplasias Hematológicas/diagnóstico por imagen , Neoplasias Hematológicas/epidemiología , Neoplasias Hematológicas/terapia , Humanos , Masculino , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Síndrome de Leucoencefalopatía Posterior/epidemiología , Síndrome de Leucoencefalopatía Posterior/fisiopatología , Estudios Retrospectivos , Esclerosis , Convulsiones/diagnóstico por imagen , Convulsiones/epidemiología , Convulsiones/fisiopatología
15.
BMC Pediatr ; 22(1): 685, 2022 11 29.
Artículo en Inglés | MEDLINE | ID: mdl-36447197

RESUMEN

BACKGROUND: To date, this is the only report showing with close and consecutive magnetic resonance images the extremely rapid response of two types of pediatric low-grade gliomas (PLGG) to vemurafenib and its impact on the surgical approach. CASES PRESENTATION: We report two cases of symptomatic PLGG treated with vemurafenib, a BRAF inhibitor: in a 12-year-old girl it was used as first-line medical treatment, reducing the tumor by 45% within a month and stabilizing to 76% after a year; in a 3-year-old boy with no improvement after SIOP LGG 2004 Protocol, vemurafenib induced in only one week a 34% shrinkage and solved the hydrocephalus, avoiding surgical operation. DISCUSSION AND CONCLUSIONS: Our cases demonstrate how an early molecular diagnosis of BRAF mutations through the neurosurgical biopsy is essential to promptly start targeted therapies., whose effect can influence both therapeutic and surgical decisions, hopefully reducing the occurrence of second neurosurgery with associated risks of neurological sequelae.


Asunto(s)
Glioma , Proteínas Proto-Oncogénicas B-raf , Masculino , Femenino , Humanos , Niño , Preescolar , Proteínas Proto-Oncogénicas B-raf/genética , Vemurafenib/uso terapéutico , Diagnóstico Precoz , Glioma/tratamiento farmacológico , Glioma/genética , Glioma/cirugía , Biopsia
16.
Acta Radiol ; 63(12): 1619-1626, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34779269

RESUMEN

BACKGROUND: Chest radiography (CR) patterns for the diagnosis of COVID-19 have been established. However, they were not ideated comparing CR features with those of other pulmonary diseases. PURPOSE: To create the most accurate COVID-19 pneumonia pattern comparing CR findings of COVID-19 and non-COVID-19 pulmonary diseases and to test the model against the British Society of Thoracic Imaging (BSTI) criteria. MATERIAL AND METHODS: CR of COVID-19 and non-COVID-19 pulmonary diseases, admitted to the emergency department, were evaluated. Assessed features were interstitial opacities, ground glass opacities, and/or consolidations and the predominant lung alteration. We also assessed uni-/bilaterality, location (upper/middle/lower), and distribution (peripheral/perihilar), as well as pleural effusion and perihilar vessels blurring. A binary logistic regression was adopted to obtain the most accurate CR COVID-19 pattern, and sensitivity and specificity were computed. The newly defined pattern was compared to BSTI criteria. RESULTS: CR of 274 patients were evaluated (146 COVID-19, 128 non-COVID-19). The most accurate COVID-19 pneumonia pattern consisted of four features: bilateral alterations (Expß=2.8, P=0.002), peripheral distribution of the predominant (Expß=2.3, P=0.013), no pleural effusion (Expß=0.4, P=0.009), and perihilar vessels' contour not blurred (Expß=0.3, P=0.002). The pattern showed 49% sensitivity, 81% specificity, and 64% accuracy, while BSTI criteria showed 51%, 77%, and 63%, respectively. CONCLUSION: Bilaterality, peripheral distribution of the predominant lung alteration, no pleural effusion, and perihilar vessels contour not blurred determine the most accurate COVID-19 pneumonia pattern. Lower field involvement, proposed by BSTI criteria, was not a distinctive finding. The BSTI criteria has lower specificity.


Asunto(s)
COVID-19 , Derrame Pleural , Humanos , COVID-19/diagnóstico por imagen , SARS-CoV-2 , Diagnóstico Diferencial , Tomografía Computarizada por Rayos X/métodos , Radiografía , Pulmón/diagnóstico por imagen , Radiografía Torácica/métodos , Estudios Retrospectivos
17.
Neurol Sci ; 42(7): 2619-2623, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33864172

RESUMEN

We report here the first case of a young individual otherwise healthy, who presented with frequent focal seizures with impaired awareness as a possible long-term complication of severe acute respiratory syndrome coronavirus-2 infection. Seizures were documented by electroencephalography and responded clinically and neuro-physiologically to antiseizure therapy. The patient underwent an extensive investigation including cerebrospinal fluid examination, conventional and quantitative brain magnetic resonance imaging, and 18-FDG positron emission tomography. Beyond the clinical interest, this case contributes to clarify the possible pathways by which SARS-CoV-2 may enter the central nervous system and cause long-term neurological complications.


Asunto(s)
COVID-19 , Electroencefalografía , Humanos , Imagen por Resonancia Magnética , SARS-CoV-2 , Convulsiones/tratamiento farmacológico , Convulsiones/etiología
18.
Neurol Sci ; 42(12): 4899-4902, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34482471

RESUMEN

OBJECTIVES: To provide new insights into neurological manifestations of COVID-19. We describe a patient with mild COVID-19 associated with diplopia from right sixth cranial nerve palsy and early diffuse leukoencephalopathy, successfully treated with intravenous methylprednisolone. METHODS: The patient was evaluated for diplopia that occurred 1 day after the onset of fever, myalgia, and headache. A complete neurological workup, including neurological examination, cerebrospinal fluid (CSF) analysis with viral polymerase chain reaction (PCR), serum autoimmune encephalitis, and anti-nerve antibodies and brain magnetic resonance imaging (MRI), was performed. RESULTS: Clinical examination revealed incomplete right sixth cranial nerve palsy. Brain MRI showed diffuse confluent fluid-attenuated inversion recovery (FLAIR) hyperintense white matter abnormalities, while CSF analysis showed mild hyperproteinorrachia (61 mg/dL) without pleocytosis. The patients were treated with high-dose intravenous methylprednisolone with rapid improvement of neurological symptoms and resolution of CSF and MRI abnormalities. DISCUSSION: Our report shows that COVID-19 may predominantly present with neurological symptoms; furthermore, it argues the notion of leukoencephalopathy as a typical feature of a severe case of the disease. Mechanisms underpinning neurological symptoms in COVID-19 still need to be elucidated; nonetheless, early recognition and prompt management may ensure their improvement or even complete recovery and are therefore recommended.


Asunto(s)
Enfermedades del Nervio Abducens , COVID-19 , Leucoencefalopatías , Enfermedades del Nervio Abducens/tratamiento farmacológico , Diplopía/tratamiento farmacológico , Diplopía/etiología , Humanos , Imagen por Resonancia Magnética , SARS-CoV-2
19.
Childs Nerv Syst ; 37(8): 2497-2508, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33973057

RESUMEN

INTRODUCTION: Standardisation of imaging acquisition is essential in facilitating multicentre studies related to childhood CNS tumours. It is important to ensure that the imaging protocol can be adopted by centres with varying imaging capabilities without compromising image quality. MATERIALS AND METHOD: An imaging protocol has been developed by the Brain Tumour Imaging Working Group of the European Society for Paediatric Oncology (SIOPE) based on consensus among its members, which consists of neuroradiologists, imaging scientists and paediatric neuro-oncologists. This protocol has been developed to facilitate SIOPE led studies and regularly reviewed by the imaging working group. RESULTS: The protocol consists of essential MRI sequences with imaging parameters for 1.5 and 3 Tesla MRI scanners and a set of optional sequences that can be used in appropriate clinical settings. The protocol also provides guidelines for early post-operative imaging and surveillance imaging. The complementary use of multimodal advanced MRI including diffusion tensor imaging (DTI), MR spectroscopy and perfusion imaging is encouraged, and optional guidance is provided in this publication. CONCLUSION: The SIOPE brain tumour imaging protocol will enable consistent imaging across multiple centres involved in paediatric CNS tumour studies.


Asunto(s)
Neoplasias Encefálicas , Neoplasias del Sistema Nervioso Central , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias del Sistema Nervioso Central/diagnóstico por imagen , Niño , Imagen de Difusión Tensora , Humanos , Imagen por Resonancia Magnética , Oncología Médica
20.
Radiographics ; 40(7): 1938-1952, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33136478

RESUMEN

The Radiological Society of North America (RSNA) Committee on International Radiology Education (CIRE) has worked for the past 25 years to create academic programs oriented to the needs of international radiologists. The CIRE develops organized and structured approaches to help build one's capabilities and increase one's capacity for professional growth, which then facilitates better patient care. The authors describe the four programs that CIRE is responsible for and introduces its newest initiative, Global Learning Centers, which is planned to start in 2021. RSNA involvement in global radiology education provides opportunities for early, mid-, and late-career radiologists to participate in these programs as students or teachers. The authors describe some of the programs' success stories and invite readers to become a part of and contribute to the growth of radiologic academic endeavors globally. ©RSNA, 2020.


Asunto(s)
Educación Médica/organización & administración , Intercambio Educacional Internacional , Radiología/educación , Sociedades Médicas , Humanos , Objetivos Organizacionales
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