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INTRODUCTION: Anomic aphasia, characterized by difficulty in word finding, is a subtype without impairments in fluent speech, comprehension, reading, writing, and repetition. Recognizing pure anomic aphasia in this group is crucial for a comprehensive understanding of localization and brain functions. CASE REPORT: We present the case of an 11-year-old girl with transient ischemic attack and anomic aphasia. Neuroimaging identified abnormalities in the cingulate gyrus and temporo-occipital regions. No focal neurological findings were observed without aphasia. In terms of etiology, an MTHFR mutation was detected, and aside from this, no hematological or systemic cause could be identified. CONCLUSION: This case marks the first demonstration of posterior cingulate gyrus involvement in pure anomic aphasia.
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Lesions of the paediatric cranial vault are diverse both in their presentation and aetiology. As such, they pose a diagnostic challenge to the paediatric neurosurgeon and neuroradiologist. In this article, we delineate the spectrum of paediatric calvarial pathology into four distinct groups: (1) lytic lesion(s); (2) focal sclerotic lesion(s); (3) diffuse cranial vault sclerosis; and (4) abnormal shape of the cranial vault. It is our aim that this more pragmatic, algorithmic approach may mitigate diagnostic uncertainty and aid the more accurate diagnosis of paediatric calvarial lesions.
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Craniossinostoses , Criança , Humanos , Lactente , Craniossinostoses/patologia , Craniossinostoses/cirurgia , Crânio/diagnóstico por imagem , Crânio/cirurgiaRESUMO
AIM: This study aimed to present the contribution of prenatal magnetic resonance imaging (MRI) in the diagnosis of fetuses that were previously identified as isolated mild and moderate cerebral ventriculomegaly (VM) by ultrasound (US). METHODS: The data between February 2013 and August 2020 were collected for women who were diagnosed with isolated mild or moderate fetal VM by US and subsequently underwent a fetal MRI. RESULTS: Among 321 women, 21 (6.5%) had a clinically important additional finding after MRI. Twelve of 276 (4.3%) fetuses with mild VM and 9 of 45 (20%) with moderate VM had turned out to have additional central nervous system abnormalities. Additional findings were detected more in fetuses with moderate VM, mothers with an anterior-located placenta, and mothers with higher body mass indexes (BMIs) with statistical significance (p = 0.001, p = 0.013, p = 0.036, respectively). The most common additional MRI finding was grade 3 or 4 germinal matrix hemorrhage, which was detected in 11 of 21 fetuses (52.3%). CONCLUSIONS: Considering the countries' health policies, prenatal MRI would contribute mostly to the diagnosis of fetuses with moderate VM, pregnancies with anterior-located placenta, and mothers with high BMIs. According to our data, we believe that MRI will be valuable, especially in the diagnosis of grade 3 and 4 intracranial hemorrhage group.
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Doenças Fetais , Hidrocefalia , Feminino , Doenças Fetais/diagnóstico , Feto/patologia , Humanos , Hidrocefalia/diagnóstico por imagem , Hiperplasia/patologia , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodosRESUMO
The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations. The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. The non-visualization of cavum septum pellucidum and colpocephaly are critical signs in the axial view. More subtle findings (i.e., hypoplasia and partial agenesis) might also be recognized antenatally. In this review, the focus was given on the prenatal diagnosis of CC abnormalities in US and magnetic resonance imaging.
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Corpo Caloso , Ultrassonografia Pré-Natal , Agenesia do Corpo Caloso/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal/métodosRESUMO
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.
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Cerebelo/anormalidades , Síndrome de Dandy-Walker/embriologia , Síndrome de Dandy-Walker/patologia , Desenvolvimento Fetal/fisiologia , Feto/patologia , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/patologia , Estudos de Casos e Controles , Cerebelo/embriologia , Cerebelo/patologia , Deficiências do Desenvolvimento/patologia , Humanos , Recém-NascidoRESUMO
OBJECTIVE: Celiac disease may present with one or more neurological signs and/or symptoms. We aimed to define the incidence of accompanying neurological manifestations in children diagnosed as having celiac disease. METHODS: The prospective study included 146 children diagnosed as having celiac disease. The medical records (presentation symptoms, clinical findings, serological test, duodenal biopsy results, lack/deficiency of vitamin, tissue type, accompanying autoimmune disorders) and demographic data of all patients were also reviewed. RESULTS: Thirty-five (23.9%) of the 146 celiac patients exhibited one or more neurological findings. Headache (11.6%) and dizziness (6.1%) were the most common symptoms among neurological manifestations. There was a significant difference between the patients with and without neurological manifestations in terms of sex, biopsy result, and tissue type (P < 0.05). Moreover, there was a statistically significant difference between tissue types of the patients with and without headache (P < 0.05). We found that grade 3a by Marsh classification was the most common type among the patients with and without neurological findings in celiac disease. On neuroimaging evaluation of patients, 1 patient with chronic focal ischemic lesion, 1 patient with Chiari type 1 malformation, and 1 patient with subcortical white matter changes were identified. CONCLUSIONS: Pathophysiology of neurological involvement in celiac disease is liable for various neurological findings. This study contributes to data suggesting that female sex, mild histopathological form, and human leukocyte antigen DQ2 heterozygosity are related to neurological manifestations, and also human leukocyte antigen DQ2 heterozygosity is associated with headache in celiac disease.
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Doença Celíaca , Biópsia , Doença Celíaca/complicações , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Criança , Feminino , Cefaleia/epidemiologia , Cefaleia/etiologia , Humanos , Estudos Prospectivos , Testes SorológicosRESUMO
Background/aim: The objective of this study was to evaluate the relationship between cranial magnetic resonance imaging (MRI) findings and clinical features in cerebral palsy (CP). Materials and methods: Children aged 3 to 18 years, who were followed with the diagnosis of CP between January 2012 and September 2015, were included. The type of CP was classified using the European Cerebral Palsy Monitoring Group's classification system and then, patients were divided into two groups as spastic or nonspastic groups. The Gross Motor Function Classification System (GMFCS) was used to determine the level of mobility. According to the GMFCS, levels 1, 2, and 3 were grouped as mobile, and levels 4 and 5 were grouped as immobile. Cranial MRI findings were reevaluated by a voluntarily radiologist and grouped as periventricular leukomalacia (PVL) (grades 1, 2, and 3), cerebral atrophy, migration anomaly, cerebellar involvement, basal ganglion involvement, and normal MRI findings. Results: Sixty-two patients were enrolled. The rate of mobile patients did not differ between the spastic and nonspastic groups. The incidence of PVL was significantly higher in cases of prematurity and spastic CP (p < 0.05). The rate of mobilization was significantly lower and the rate of epilepsy was significantly higher in patients with PVL. Immobile patients were more common among cases of grade 3 PVL (p < 0.05). Conclusion: The most common cranial MRI pathology was PVL, and the presence of PVL and its grade might help clinically assess the patient's CP type and level of mobilization. While pathology was observed mostly in cranial MRI in cases of CP with similar clinical features, the fact that cranial MRI was completely normal for 14.5% of the cases suggests that there may be some pathologies that we could not identify with today's imaging technology.
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Paralisia Cerebral , Epilepsia , Leucomalácia Periventricular , Paralisia Cerebral/diagnóstico por imagem , Criança , Humanos , Recém-Nascido , Leucomalácia Periventricular/diagnóstico por imagem , Imageamento por Ressonância Magnética , Espasticidade MuscularRESUMO
The original version of this article unfortunately contained a referencing omission. Figure 11 is reused from the original publication of Figure 10 of Gunny and Lin [1].
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The interpretation of cerebral venous pathologies in paediatric practice is challenging as there are several normal anatomical variants, and the pathologies are diverse, involving the venous system through direct and indirect mechanisms. This paper aims to provide a comprehensive review of these entities, as their awareness can avoid potential diagnostic pitfalls. We also propose a practical classification system of paediatric cerebral venous pathologies, which will enable more accurate reporting of the neuroimaging findings, as relevant to the underlying pathogenesis of these conditions. The proposed classification system comprises of the following main groups: arterio-venous shunting-related disorders, primary venous malformations and veno-occlusive disorders. A multimodal imaging approach has been included in the relevant subsections, with a brief overview of the modality-specific pitfalls that can also limit interpretation of the neuroimaging. The article also summarises the current literature and international practices in terms of management options and outcomes in specific disease entities.
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Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/embriologia , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/embriologia , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , NeuroimagemRESUMO
Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-linked forms. HSPs are clinically classified into 'pure' and 'complicated' (complex) forms. SPG11 (KIAA1840) and SPG15 (ZFYVE26) are the most common ARHSPs with thin corpus callosum (TCC). They typically present with early cognitive impairment in childhood followed by gait impairment and spasticity in the second and third decades of life. Here, we present a patient girl, born to a couple who were first cousins, was admitted to the pediatric neurology outpatient clinic at 14 years of age because of walking with help, dysarthria and forgetfulness. Her examination revealed a motor mental retardation, bilateral leg spasticity, increased deep tendon reflexes in lower limbs, bilateral pigmentary retinopathy; TCC and white matter hyperintensities on brain MRI, sensorimotor axonal polyneuropathy findings in lower limbs on electromyography. Based on the clinical features and the imaging studies, the diagnosis of HSP was suspected. Targeted next generation sequencing (NGS) was performed using Inherited NGS Panel that consists of 579 gene associated with Mendelian disorders. Analysis of the patient revealed a c.6398_6401delGGGA(p.Arg2133Asnfs*15)(Exon35) homozygous novel change in ZFYVE26 gene. Genotype-phenotype correlation of HSP is complicated due to heterogeneity. The clinical similarity of HSP types increases the importance of genetic diagnosis. There are few reports about pathogenic variants in ZFYVE26 gene in the literature. This case report is one of the few studies that revealed a novel pathogenic variant in ZFYVE26 gene using NGS.
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Proteínas de Transporte/genética , Degeneração Retiniana/diagnóstico , Degeneração Retiniana/genética , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Genótipo , Humanos , Mutação , Linhagem , Degeneração Retiniana/patologia , Paraplegia Espástica Hereditária/patologiaRESUMO
BACKGROUNDS AND PURPOSE: Hemorrhagic transformation (HT) following stroke of the posterior circulation is a rare occurrence, and its risk factors remain relatively unknown. This study aimed at examining the rate of HT and its risk factors in patients enduring acute ischemic stroke in the territories of the vertebral, basilar, and posterior-cerebral arteries. MATERIALS AND METHODS: A total of 217 consecutive patients the risk factors for ischemic stroke were recorded and comprehensive biochemical, cardiac assessments, and neuroimaging were performed. National Institutes of Health Stroke Scale (NIHSS) scores were calculated for each patient. Those with HT as documented with neuroimaging based on the European Cooperative Acute Stroke Study criteria and potential risk factors were assessed. RESULTS: There were 217 participants with a mean age of 67.33 ± 12.44 years. Among 17 patients (7.8%) developing HT, 8 (47%) had parenchymal hematoma, and 9(53.5%) had hemorrhagic infarction. Cardioembolism was the most frequent etiological factor both in the overall group (31.0%) as well as in those with HT (41.2%). Factors that emerged as significant predictors of HT included high systolic (odds ratio [OR] 1.14; 95% confidence interval [CI] 1.08-1.20; P< .001) and diastolic blood pressure (P= .001) on the day of admission and the infarction volume of greater than or equal to 3.60 ± 3.29 cm³(OR 1.00, 95% CI 1.00-1.01; P< .001). While NIHSS scores were not significantly different on Day 1, HT patients had higher NIHSS scores at Day 10(OR 1.22; 95% CI 1.09-1.36; P< .001), and this difference was also reflected in mRS at the end of the 3 month period. CONCLUSION: HT is a rare complication of the infarction of the posterior circulation that is associated with increased morbidity and mortality. Identification of predictive factors for HT in patients with the acute infarction of the posterior circulation may facilitate patient selection for thrombolytic treatment.
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Infarto Encefálico/epidemiologia , Circulação Cerebrovascular , Hemorragias Intracranianas/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Infarto Encefálico/diagnóstico por imagem , Infarto Encefálico/mortalidade , Infarto Encefálico/fisiopatologia , Causas de Morte , Imagem de Difusão por Ressonância Magnética , Avaliação da Deficiência , Feminino , Humanos , Incidência , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/mortalidade , Hemorragias Intracranianas/fisiopatologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Medição de Risco , Fatores de Risco , Fatores de Tempo , Tomografia Computadorizada por Raios XRESUMO
Leptomeningeal metastasis is a very rare complication of infiltration of leptomeninges and subarachnoid space with malignant cells. It is an indicator of poor prognosis. Its incidence is 3.8% in non-small cell lung carcinoma (NSCLC). This rate is higher in patients with epidermal growth factor receptor (EGFR) mutation. Brain magnetic resonance imaging (MRI) is the first choice in the diagnosis. The diagnosis of leptomeningeal metastasis is difficult and often bypassed because it is rare and does not cause gross mass lesions such as brain metastasis. Systemic chemotherapy, intrathecal therapy, cranial radiotherapy and targeted treatment agents are an option in the treatment. It has been shown that targeted therapies can be promising because of the ability to switch to cerebrospinal fluid in appropriate patients. We present the case with EGFR positive lung adenocarcinoma whit leptomeningeal metastasis (LM) due to its rarity, difficulty in diagnosis and its association with EGFR mutation.
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Adenocarcinoma de Pulmão/secundário , Neoplasias Pulmonares/patologia , Neoplasias Meníngeas/secundário , Adenocarcinoma de Pulmão/diagnóstico , Adenocarcinoma de Pulmão/genética , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Análise Mutacional de DNA , DNA de Neoplasias , Receptores ErbB/genética , Receptores ErbB/metabolismo , Feminino , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/genética , Pessoa de Meia-Idade , Mutação , Estudos RetrospectivosRESUMO
OBJECTIVE: To report a rare case with central-variant posterior reversible encephalopathy syndrome due to sulfasalazine. CLINICAL PRESENTATION AND INTERVENTION: A 55-year-old female patient presented with seizure and acute-onset hemiparesia. Thirty days earlier, treatment with sulfasalazine was commenced in response to a diagnosis of psoriatic arthritis. Laboratory examinations were normal. Brain magnetic resonance imaging showed symmetric edema within basal ganglia and thalami with sparing of the cerebral cortices. After stopping the treatment of sulfasalazine, clinical and radiological findings regressed dramatically. CONCLUSION: This was a case of central-variant posterior reversible encephalopathy syndrome due to sulfasalazine, and atypical imaging findings should be kept in mind for early diagnosis.
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Antirreumáticos/efeitos adversos , Síndrome da Leucoencefalopatia Posterior/induzido quimicamente , Sulfassalazina/efeitos adversos , Antirreumáticos/uso terapêutico , Artrite Psoriásica/tratamento farmacológico , Encéfalo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Convulsões/induzido quimicamente , Sulfassalazina/uso terapêuticoRESUMO
Dysraphic malformations of the spine and spinal cord (DMSSC) represent a spectrum of common congenital anomalies typically (though not exclusively) affecting the lower spinal segments. These may be responsible for varying degrees of neurologic, orthopedic, and urologic morbidity. With advances in neuroimaging, it is now possible to better diagnose and evaluate these disorders both prenatally and postnatally. Neuroimaging, performed at the right time and with technique optimization, is integral in guiding clinical management. However, the terminology used to describe these lesions has become increasingly confusing, and there is a lack of consensus regarding the essential radiologic features and their clinical weighting. This variability in radiologic practice risks unstructured decision making and increases the likelihood of suboptimal, less informed clinical management. In this manuscript, the first of a series of consensus statements, we outline a standardized international consensus statement for the radiologic evaluation of children with suspected DMSSC derived from a critical review of the literature, and the collective clinical experience of a multinational group of experts. We provide recommendations for plain radiography, sonography, CT, and MR imaging in the evaluation of DMSSC with an emphasis on technique of imaging and imaging protocols.
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BACKGROUND: Recurrent episodes of venous thrombosis have been closely correlated with JAK2 V617F mutation. Upto date, JAK2 gene mutation has not been defined as a prothrombic risk factor in renal transplant recipients. Herein; we present a case of portosplenic vein thrombosis in a primary renal transplant recipient with JAK2 V617F mutation who had no history of prior venous thromboembolism or thrombophilia. CASE PRESENTATION: A 59 year old female caucasian patient with primary kidney transplant admitted with vague abdominal pain at left upper quadrant. Abdominal doppler ultrasound and magnetic resonance imaging angiography demonstrated splanchnic vein thrombosis (SVT). The final diagnosis was SVT due to MPD (essential thrombocytosis, ET) with JAK2 V617F mutation. After 3 months of treatment with warfarin (≥5 mg/day, to keep target INR values of 1.9-2.5), control MRI angiography and doppler USG demonstrated partial (>%50) resolution of thrombosis with recanalization of hepatopedal venous flow. The patient is still on the same treatment protocol without any complication. CONCLUSION: JAK2 V617F mutation analysis should be a routine procedure in the diagnosis and treatment of kidney transplant patients with thrombosis in uncommon sites.
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Transplante de Rim/efeitos adversos , Circulação Esplâncnica , Trombose Venosa/diagnóstico , Trombose Venosa/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Circulação Esplâncnica/fisiologiaRESUMO
AIM: Periventricular leukomalacia (PVL) is a term reserved to describe white matter injury in the premature brain. In this review article, the authors highlight the common and rare pathologies mimicking the chronic stage of PVL and propose practical clinico-radiological criteria that would aid in diagnosis and management. METHODS AND RESULTS: The authors first describe the typical brain MRI (magnetic resonance imaging) features of PVL. Based on their clinical presentation, pathologic entities and their neuroimaging findings were clustered into distinct categories. Three clinical subgroups were identified: healthy children, children with stable/nonprogressive neurological disorder, and those with progressive neurological disorder. The neuroradiological discriminators are described in each subgroup with relevant differential diagnoses. The mimics were broadly classified into normal variants, acquired, and inherited disorders. CONCLUSIONS: The term "PVL" should be used appropriately as it reflects its pathomechanism. The phrase "white matter injury of prematurity" or "brain injury of prematurity" is more specific. Discrepancies in imaging and clinical presentation must be tread with caution and warrant further investigations to exclude other possibilities.
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Leucomalácia Periventricular/fisiopatologia , Encéfalo/fisiopatologia , Paralisia Cerebral/fisiopatologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Leucomalácia Periventricular/diagnóstico , Imageamento por Ressonância Magnética/métodos , Imageamento por Ressonância Magnética/estatística & dados numéricos , Masculino , Gravidez , Complicações na Gravidez/etiologia , Fatores de RiscoRESUMO
Magnetic resonance imaging offers unrivaled visualization of the fetal brain, forming the basis for establishing age-specific morphologic milestones. However, gauging age-appropriate neural development remains a difficult task due to the constantly changing appearance of the fetal brain, variable image quality, and frequent motion artifacts. Here we present an end-to-end, attention-guided deep learning model that predicts gestational age with R2 score of 0.945, mean absolute error of 6.7 days, and concordance correlation coefficient of 0.970. The convolutional neural network was trained on a heterogeneous dataset of 741 developmentally normal fetal brain images ranging from 19 to 39 weeks in gestational age. We also demonstrate model performance and generalizability using independent datasets from four academic institutions across the U.S. and Turkey with R2 scores of 0.81-0.90 after minimal fine-tuning. The proposed regression algorithm provides an automated machine-enabled tool with the potential to better characterize in utero neurodevelopment and guide real-time gestational age estimation after the first trimester.
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Encéfalo/diagnóstico por imagem , Aprendizado Profundo , Idade Gestacional , Processamento de Imagem Assistida por Computador/estatística & dados numéricos , Imageamento por Ressonância Magnética/normas , Neuroimagem/normas , Artefatos , Encéfalo/crescimento & desenvolvimento , Conjuntos de Dados como Assunto , Feminino , Feto , Humanos , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Gravidez , Trimestres da Gravidez/fisiologia , Turquia , Estados UnidosRESUMO
BACKGROUND: The risk profile for posterior fossa ependymoma (EP) depends on surgical and molecular status [Group A (PFA) versus Group B (PFB)]. While subtotal tumor resection is known to confer worse prognosis, MRI-based EP risk-profiling is unexplored. We aimed to apply machine learning strategies to link MRI-based biomarkers of high-risk EP and also to distinguish PFA from PFB. METHODS: We extracted 1800 quantitative features from presurgical T2-weighted (T2-MRI) and gadolinium-enhanced T1-weighted (T1-MRI) imaging of 157 EP patients. We implemented nested cross-validation to identify features for risk score calculations and apply a Cox model for survival analysis. We conducted additional feature selection for PFA versus PFB and examined performance across three candidate classifiers. RESULTS: For all EP patients with GTR, we identified four T2-MRI-based features and stratified patients into high- and low-risk groups, with 5-year overall survival rates of 62% and 100%, respectively (P < .0001). Among presumed PFA patients with GTR, four T1-MRI and five T2-MRI features predicted divergence of high- and low-risk groups, with 5-year overall survival rates of 62.7% and 96.7%, respectively (P = .002). T1-MRI-based features showed the best performance distinguishing PFA from PFB with an AUC of 0.86. CONCLUSIONS: We present machine learning strategies to identify MRI phenotypes that distinguish PFA from PFB, as well as high- and low-risk PFA. We also describe quantitative image predictors of aggressive EP tumors that might assist risk-profiling after surgery. Future studies could examine translating radiomics as an adjunct to EP risk assessment when considering therapy strategies or trial candidacy.
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Ependimoma , Ependimoma/diagnóstico por imagem , Ependimoma/genética , Ependimoma/patologia , Humanos , Aprendizado de Máquina , Imageamento por Ressonância Magnética , Prognóstico , Estudos RetrospectivosRESUMO
Orbital lymphoma is a very rare type of primary Non-Hodgkin lymphoma. The disorder is often small B-cell lymphoma, although large cell morphology may also be identified in rare cases. It may sometimes be confused with non-malignant, benign-course lymphoid hyperplasia. Although involvement is usually unilateral (80%), bilateral cases are also reported. Response to radiotherapy is achieved in the majority of cases, whereas the prognosis is poor in orbital involvement with large cell lymphoma and response to combined chemotherapy is inadequate. In this paper, we report a case with a diagnosis of unilateral adnexal involvement, who previously received CHOP treatment and developed a relapse 6 months later, then responded to treatment with Rituximab.
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Anticorpos Monoclonais Murinos/farmacologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias de Tecidos Moles/tratamento farmacológico , Idoso , Anticorpos Monoclonais/metabolismo , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Feminino , Humanos , Linfoma , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma não Hodgkin/tratamento farmacológico , Neoplasias Orbitárias/tratamento farmacológico , Prednisona/uso terapêutico , Prognóstico , Radioterapia/métodos , Recidiva , Indução de Remissão , Rituximab , Vincristina/uso terapêuticoRESUMO
BACKGROUND: Diffuse intrinsic pontine gliomas (DIPGs) are lethal pediatric brain tumors. Presently, MRI is the mainstay of disease diagnosis and surveillance. We identify clinically significant computational features from MRI and create a prognostic machine learning model. METHODS: We isolated tumor volumes of T1-post-contrast (T1) and T2-weighted (T2) MRIs from 177 treatment-naïve DIPG patients from an international cohort for model training and testing. The Quantitative Image Feature Pipeline and PyRadiomics was used for feature extraction. Ten-fold cross-validation of least absolute shrinkage and selection operator Cox regression selected optimal features to predict overall survival in the training dataset and tested in the independent testing dataset. We analyzed model performance using clinical variables (age at diagnosis and sex) only, radiomics only, and radiomics plus clinical variables. RESULTS: All selected features were intensity and texture-based on the wavelet-filtered images (3 T1 gray-level co-occurrence matrix (GLCM) texture features, T2 GLCM texture feature, and T2 first-order mean). This multivariable Cox model demonstrated a concordance of 0.68 (95% CI: 0.61-0.74) in the training dataset, significantly outperforming the clinical-only model (C = 0.57 [95% CI: 0.49-0.64]). Adding clinical features to radiomics slightly improved performance (C = 0.70 [95% CI: 0.64-0.77]). The combined radiomics and clinical model was validated in the independent testing dataset (C = 0.59 [95% CI: 0.51-0.67], Noether's test P = .02). CONCLUSIONS: In this international study, we demonstrate the use of radiomic signatures to create a machine learning model for DIPG prognostication. Standardized, quantitative approaches that objectively measure DIPG changes, including computational MRI evaluation, could offer new approaches to assessing tumor phenotype and serve a future role for optimizing clinical trial eligibility and tumor surveillance.