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2.
Can Assoc Radiol J ; : 8465371241231577, 2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38538619

RESUMO

Purpose: Scoliosis is a complex spine deformity with direct functional and cosmetic impacts on the individual. The reference standard for assessing scoliosis severity is the Cobb angle which is measured on radiographs by human specialists, carrying interobserver variability and inaccuracy of measurements. These limitations may result in lack of timely referral for management at a time the scoliotic deformity progression can be saved from surgery. We aimed to create a machine learning (ML) model for automatic calculation of Cobb angles on 3-foot standing spine radiographs of children and adolescents with clinical suspicion of scoliosis across 2 clinical scenarios (idiopathic, group 1 and congenital scoliosis, group 2). Methods: We retrospectively measured Cobb angles of 130 patients who had a 3-foot spine radiograph for scoliosis within a 10-year period for either idiopathic or congenital anomaly scoliosis. Cobb angles were measured both manually by radiologists and by an ML pipeline (segmentation-based approach-Augmented U-Net model with non-square kernels). Results: Our Augmented U-Net architecture achieved a Symmetric Mean Absolute Percentage Error (SMAPE) of 11.82% amongst a combined idiopathic and congenital scoliosis cohort. When stratifying for idiopathic and congenital scoliosis individually a SMAPE of 13.02% and 11.90% were achieved, respectively. Conclusion: The ML model used in this study is promising at providing automated Cobb angle measurement in both idiopathic scoliosis and congenital scoliosis. Nevertheless, larger studies are needed in the future to confirm the results of this study prior to translation of this ML algorithm into clinical practice.

3.
Radiographics ; 44(4): e230125, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38451848

RESUMO

Retinoblastoma is the most common cause of all intraocular pediatric malignancies. It is caused by the loss of RB1 tumor suppressor gene function, although some tumors occur due to MYCN oncogene amplification with normal RB1 genes. Nearly half of all retinoblastomas occur due to a hereditary germline RB1 pathogenic variant, most of which manifest with bilateral tumors. This germline RB1 mutation also predisposes to intracranial midline embryonal tumors. Accurate staging of retinoblastoma is crucial in providing optimal vision-, eye-, and life-saving treatment. The AJCC Cancer Staging Manual has undergone significant changes, resulting in a universally accepted system with a multidisciplinary approach for managing retinoblastoma. The authors discuss the role of MRI and other diagnostic imaging techniques in the pretreatment assessment and staging of retinoblastoma. A thorough overview of the prevailing imaging standards and evidence-based perspectives on the benefits and drawbacks of these techniques is provided. Published under a CC BY 4.0 license. Test Your Knowledge questions for this article are available in the supplemental material.


Assuntos
Oncologistas , Oftalmologistas , Neoplasias da Retina , Retinoblastoma , Criança , Humanos , Diagnóstico por Imagem , Mutação , Estadiamento de Neoplasias , Neoplasias da Retina/diagnóstico por imagem , Neoplasias da Retina/genética , Retinoblastoma/diagnóstico por imagem , Retinoblastoma/genética
4.
Can Assoc Radiol J ; 74(1): 119-126, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35768942

RESUMO

Purpose: Biopsy-based assessment of H3 K27 M status helps in predicting survival, but biopsy is usually limited to unusual presentations and clinical trials. We aimed to evaluate whether radiomics can serve as prognostic marker to stratify diffuse intrinsic pontine glioma (DIPG) subsets. Methods: In this retrospective study, diagnostic brain MRIs of children with DIPG were analyzed. Radiomic features were extracted from tumor segmentations and data were split into training/testing sets (80:20). A conditional survival forest model was applied to predict progression-free survival (PFS) using training data. The trained model was validated on the test data, and concordances were calculated for PFS. Experiments were repeated 100 times using randomized versions of the respective percentage of the training/test data. Results: A total of 89 patients were identified (48 females, 53.9%). Median age at time of diagnosis was 6.64 years (range: 1-16.9 years) and median PFS was 8 months (range: 1-84 months). Molecular data were available for 26 patients (29.2%) (1 wild type, 3 K27M-H3.1, 22 K27M-H3.3). Radiomic features of FLAIR and nonenhanced T1-weighted sequences were predictive of PFS. The best FLAIR radiomics model yielded a concordance of .87 [95% CI: .86-.88] at 4 months PFS. The best T1-weighted radiomics model yielded a concordance of .82 [95% CI: .8-.84] at 4 months PFS. The best combined FLAIR + T1-weighted radiomics model yielded a concordance of .74 [95% CI: .71-.77] at 3 months PFS. The predominant predictive radiomic feature matrix was gray-level size-zone. Conclusion: MRI-based radiomics may predict progression-free survival in pediatric diffuse midline glioma/diffuse intrinsic pontine glioma.


Assuntos
Neoplasias do Tronco Encefálico , Glioma Pontino Intrínseco Difuso , Glioma , Feminino , Humanos , Criança , Intervalo Livre de Progressão , Estudos Retrospectivos , Glioma/diagnóstico por imagem , Glioma/patologia , Imageamento por Ressonância Magnética , Neoplasias do Tronco Encefálico/diagnóstico por imagem
5.
Front Oncol ; 12: 963768, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36059709

RESUMO

Congenital spinal hamartomas are rare benign tumors. They are mostly seen in infants and are typically asymptomatic at presentation. Spinal hamartomas have not been associated with any known cancer predisposition syndrome. DICER1 syndrome is a well-characterized cancer predisposition syndrome caused by a germline mutation in the DICER1 gene, which shows variable expressivity. To our knowledge, spinal hamartoma has never been described in individuals with DICER1 syndrome. Here, we describe a rare association of congenital spinal hamartoma and DICER1 syndrome in a 5-week-old infant, with molecular findings suggestive of the implication of DICER1 in the pathogenesis of this tumor.

6.
Neuroimaging Clin N Am ; 32(3): 507-528, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35843659

RESUMO

Advances in MR imaging techniques have allowed for detailed in vivo depiction of white matter tracts. The study of white matter structure and connectivity is of paramount importance in leukodystrophies, demyelinating disorders, neoplasms, and various cognitive, neuropsychiatric, and developmental disorders. The advent of advanced "function-preserving" surgical techniques also makes it imperative to understand white matter anatomy and connectivity, to provide accurate road maps for tumor and epilepsy surgery. In this review, we will describe cerebral white matter anatomy with the help of conventional MRI and diffusion tensor imaging.


Assuntos
Imagem de Tensor de Difusão , Substância Branca , Encéfalo/patologia , Imagem de Tensor de Difusão/métodos , Humanos , Imageamento por Ressonância Magnética , Substância Branca/diagnóstico por imagem
7.
Acta Ophthalmol ; 100(1): e47-e52, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33939299

RESUMO

PURPOSE: To determine the risk of patients with an early diagnosis of heritable retinoblastoma being diagnosed with TRb (or pineoblastoma) asynchronously in a later stage and its effect on screening. METHODS: We updated the search (PubMed and Embase) for published literature as performed by our research group in 2014 and 2019. Trilateral retinoblastoma (TRb) patients were eligible for inclusion if identifiable as unique and the age at which TRb was diagnosed was available. The search yielded 97 new studies. Three new studies and eight new patients were included. Combined with 189 patients from the previous meta-analysis, the database included 197 patients. The main outcome was the percentage of asynchronous TRb in patients diagnosed before and after preset age thresholds of 6 and 12 months of age at retinoblastoma diagnosis. RESULTS: Seventy-nine per cent of patients with pineoblastoma are diagnosed with retinoblastoma before the age of 12 months. However, baseline MRI screening at time of retinoblastoma diagnosis fails to detect the later diagnosed pineal TRb in 89% of patients. We modelled that an additional MRI performed at the age of 29 months picks up 53% of pineoblastomas in an asymptomatic phase. The detection rate increased to 72%, 87% and 92%, respectively, with 2, 3 and 4 additional MRIs. CONCLUSIONS: An MRI of the brain in heritable retinoblastoma before the age of 12 months misses most pineoblastomas, while retinoblastomas are diagnosed most often before the age of 12 months. Optimally timed additional MRI scans of the brain can increase the asymptomatic detection rate of pineoblastoma.


Assuntos
Neoplasias Encefálicas/diagnóstico , Diagnóstico Precoce , Glândula Pineal , Pinealoma/diagnóstico , Neoplasias da Retina/diagnóstico , Retinoblastoma/diagnóstico , Humanos , Lactente , Imageamento por Ressonância Magnética
8.
J Child Neurol ; 37(2): 151-167, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34937403

RESUMO

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.


Assuntos
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 Risco
9.
J Thromb Haemost ; 19(10): 2428-2439, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34152075

RESUMO

BACKGROUND: Antithrombotic therapy is currently recommended for stroke prevention in pediatric cardioembolic stroke where the recurrence risk is high; however, safety concerns remain. The primary objective of this study was to evaluate clinical and radiographic predictors of hemorrhagic transformation and stroke recurrence in children with cardiac disease to ascertain the safety and failure rates for secondary stroke prevention. METHODS: This was a single-center, retrospective analysis of a prospectively enrolled cohort of children with radiologically confirmed cardioembolic stroke from January 2003 to December 2017 treated with institutional guidelines. RESULTS: Eighty-two children met inclusion criteria (male 44 [54%]; neonates 23 [28%]; median age 0.43 years [0.08-4.23]). Hemorrhagic transformation occurred in 20 (24%) with the majority (75% of 20) being petechial and asymptomatic. One death (1%) was reported from hemorrhagic transformation. Four children (5%) had major extracranial hemorrhage. Most (95%) received antithrombic therapy, with anticoagulation being favored (82%). Greater stroke volume was associated with hemorrhagic transformation using the pediatric Alberta Stroke Program Early CT Score (6.1 ± 3.3 vs. 3.5 ± 2.3; p = .006). Stroke recurred in 11 (13%) children at a median 32 days (5.5-93) from the index event and the majority (90%) were on treatment at the time of recurrence. Children with univentricular physiology were less likely to have hemorrhagic transformation (RR 0.31; 95% CI 0.09-0.96, p = .04); however, they had higher rates of recurrent stroke before final palliative repair. CONCLUSIONS: In spite of the 24% hemorrhagic transformation rate, antithrombotic therapy has a positive risk-balance in certain cardioembolic stroke subgroups, particularly in those with single-ventricle physiology, when accounting for stroke volume.


Assuntos
Isquemia Encefálica , Cardiopatias , Acidente Vascular Cerebral , Pré-Escolar , Feminino , Fibrinolíticos/efeitos adversos , Cardiopatias/diagnóstico , Cardiopatias/tratamento farmacológico , Hemorragia/induzido quimicamente , Humanos , Lactente , Recém-Nascido , Masculino , Recidiva Local de Neoplasia , Recidiva , Estudos Retrospectivos , Prevenção Secundária , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/prevenção & controle
10.
Pediatr Neurol ; 120: 18-26, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33962345

RESUMO

BACKGROUND: Given the expanding evidence of clinico-radiological differences between moyamoya disease (MMD) and moyamoya syndrome (MMS), we compared the clinical and radiographic features of childhood MMD and MMS to identify predictors of ischemic event recurrence. METHODS: We reviewed a pediatric moyamoya cohort followed between 2003 and 2019. Clinical and radiographic characteristics at diagnosis and follow-up were abstracted. Comparisons between MMD and MMS as well as between MMD and two MMS subgroups (neurofibromatosis [MMS-NF1] and sickle cell disease [MMS-SCD]) were performed. RESULTS: A total of 111 patients were identified. Patients with MMD presented commonly with transient ischemic attacks (TIAs) (35 % MMD versus 13% MMS-NF1 versus 9.5% MMS-SCD; P = 0.047). Symptomatic stroke presentation (MMD 37% versus MMS-NF1 4% versus 33%; P = 0.0147) and bilateral disease at diagnosis (MMD 73% versus MMS-NF1 22 % versus MMS-SCD 67%; P = 0.0002) were uncommon in MMS-NF1. TIA recurrence was common in MMD (hazard ratio 2.86; P = 0.001). The ivy sign was absent on neuroimaging in a majority of patients with MMS-SCD (MMD 67% versus MMS-NF1 52% versus MMS-SCD 9.5%; P = 0.0002). Predictors of poor motor outcome included early age at diagnosis (odds ratio [OR] 8.45; P = 0.0014), symptomatic stroke presentation (OR 6.6; P = 0.019), and advanced Suzuki stage (OR 3.59; P = 0.019). CONCLUSIONS: Moyamoya exhibits different phenotypes based on underlying etiologies. Frequent TIAs is a common phenotype of MMD and symptomatic stroke presentation a common feature of MMD and MMS-SCD, whereas unilateral disease and low infarct burden are common in MMS-NF1. In addition, absence of ivy sign is a common phenotype in MMS-SCD.


Assuntos
Anemia Falciforme/complicações , Disfunção Cognitiva/etiologia , Progressão da Doença , Ataque Isquêmico Transitório/etiologia , Doença de Moyamoya/complicações , Neurofibromatose 1/complicações , Acidente Vascular Cerebral/etiologia , Adolescente , Criança , Pré-Escolar , Disfunção Cognitiva/fisiopatologia , Feminino , Seguimentos , Humanos , Ataque Isquêmico Transitório/diagnóstico por imagem , Masculino , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/etiologia , Doença de Moyamoya/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Fenótipo , Acidente Vascular Cerebral/diagnóstico por imagem
11.
Pediatr Blood Cancer ; 68(7): e29015, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33764681

RESUMO

BACKGROUND: Ultrasound assistance improves success rates and reduces adverse outcomes of lumbar punctures (LPs) among adult patients in the emergency room and the operating room, but has not been evaluated in pediatric patients with cancer. Our objectives were (1) to determine whether pediatric oncologists could perform ultrasound-assisted LPs following a structured teaching curriculum, and (2) to determine the feasibility of recruiting pediatric cancer patients to a clinical trial of this procedure. METHODS: Three pediatric oncologists completed a curriculum composed of didactic teaching followed by hands-on workshops. Each learner was evaluated during 20 attempts at three ultrasound tasks using the cumulative sum method. The three pediatric oncologists then performed ultrasound assessments prior to routinely scheduled LPs. Feasibility was defined as ability to perform at least 30 ultrasound-assisted LPs within 6 months. Secondary outcomes were the proportion of successful, bloody, or traumatic LPs, time required, and perceived helpfulness of ultrasound. RESULTS: All three pediatric oncologists achieved competence in the three tasks of ultrasound scanning within 20 evaluated attempts. We recruited 62 patients within 1 month, and 58 underwent an ultrasound-assisted LP. All LPs were successful. Two LPs (4%) had ≥500 red blood cells (RBCs)/µl, and nine (16%) had ≥10 RBCs/µl. Median time to conduct the scan was 1.9 minutes (range 0.8-4.0 minutes). In 37 (64%) of the LPs, ultrasound assistance was considered helpful or very helpful. CONCLUSIONS: Pediatric oncologists readily achieved competence in ultrasound-assisted LPs, and ultrasound was commonly perceived as helpful. It is feasible to proceed to a randomized trial of this procedure in pediatric cancer.


Assuntos
Oncologistas , Punção Espinal , Criança , Estudos de Viabilidade , Humanos , Lipopolissacarídeos , Sistemas Automatizados de Assistência Junto ao Leito
12.
J Neurointerv Surg ; 13(3): 290-293, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32546638

RESUMO

BACKGROUND: Failure to appreciate deep venous drainage pathways is a major cause of severe complications in the endovascular treatment of vein of Galen aneurysmal malformations (VOGMs). OBJECTIVE: To report deep venous drainage patterns in patients with VOGM, emphasizing the internal cerebral veins, and to describe the challenges in evaluating these. METHODS: Patients with VOGM presenting to our institute between 2000 and 2018 were retrospectively analyzed. Patients with complete and good quality imaging datasets were included in the study. Three neuroradiologists with expertise in the subject independently analyzed the deep venous drainage patterns on multi-sequence MRI and digital subtraction angiography. Follow-up imaging studies were analyzed for alterations in deep venous drainage patterns that occurred following endovascular treatment. Descriptive statistics were used to report findings. RESULTS: Twenty-three patients had optimal quality MRI imaging and 25 had optimal quality DSA imaging available. In 14/23 (61%) patients, internal cerebral vein (ICV) communication could be reliably identified on MRI and in 8/25 (32%) patients on DSA. Deep venous communication with the VOGM was demonstrated in 8/26 (30.8%) patients. One (3.8%) patient demonstrated ICV communication with the VOGM only on postoperative imaging, while in 2 (8%) patients the ICV drainage route changed from VOGM to alternative pathways after the procedure. Other variant pathways included lateral mesencephalic vein, superior or inferior sagittal sinus, anterior mesencephalic vein, tentorial sinus, deep Sylvian vein, and superior vermian vein. CONCLUSION: ICV communication with the VOGM is not uncommon and requires dedicated preprocedural imaging to identify it. However, there are significant challenges in assessing this communication in the presence of high-flow fistulae, vessel tortuosity and size, and contrast limitations in this population.


Assuntos
Angiografia Cerebral/métodos , Veias Cerebrais/diagnóstico por imagem , Embolização Terapêutica/métodos , Malformações da Veia de Galeno/diagnóstico por imagem , Malformações da Veia de Galeno/terapia , Angiografia Digital/métodos , Estudos de Coortes , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Angiografia por Ressonância Magnética/métodos , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Resultado do Tratamento , Malformações da Veia de Galeno/epidemiologia
13.
AJR Am J Roentgenol ; 215(2): 472-487, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32507016

RESUMO

OBJECTIVE. The objective of this study was to assess the available evidence in the literature regarding treatment outcomes for pediatric patients with brain arteriovenous malformation (bAVM) with the aim of providing practice guidelines for treatment decisions and highlighting research areas that need attention. MATERIALS AND METHODS. Keyword searches for studies published from January 1, 1981, to April 16, 2018, were performed in MEDLINE, Embase, and Web of Science. Predefined inclusion criteria were used to identify studies. Poisson regression analysis for associations between patient and bAVM characteristics and treatment outcomes. RESULTS. We identified 34 articles comprising 2158 children with bAVM who underwent treatment or observation. The mean age of the study cohort was 12.0 ± 1.6 (SD) years, and 48.1% of the patients were female; 64.3% of bAVMs were hemorrhagic at presentation. The mean follow-up was 50.6 ± 32.3 months. Overall, the meta-analysis of pooled data showed an obliteration rate of 69.8% (95% CI, 62.9-75.9%), recurrence rate of 2.2% (95% CI, 1.1-4.3%), and mortality rate of 2.4%. The pooled complication rate was 22.5% (95% CI, 15.7-31.1%) after surgery, 26.4% (95% CI, 15.2-41.9%) after embolization, and 27.1% (95% CI, 18.1-38.4%) after radiosurgery. Mortality was not associated with age, sex, or hemorrhage; however, recurrence after treatment was inversely associated with age. Complication and mortality rates were reduced for multimodal treatments. For patients with bAVM treated with observation only, complication and mortality rates were 35.9% and 23.5%, respectively. CONCLUSION. Multimodality treatments for pediatric bAVM had lower mortality and complication rates than individual treatments. However, there is a lack of evidence for long-term outcomes. The mortality rate was highest in conservatively managed patients (i.e., observation only). Further research directly comparing different treatment modalities for recurrence and complications is warranted. Gathering data prospectively through multiinstitutional registries will be key to provide strong evidence.


Assuntos
Malformações Arteriovenosas Intracranianas/terapia , Humanos , Resultado do Tratamento
14.
J Neurooncol ; 147(3): 731-736, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32285309

RESUMO

PURPOSE: Mammalian target of rapamycin inhibitors (mTORi) are known to effectively reduce the size of subependymal giant cell astrocytomas (SEGAs), which are benign brain lesions associated with Tuberous Sclerosis Complex (TSC) that commonly cause obstructive hydrocephalus (OH). This retrospective case series reviews an institutional experience of the effect of mTORi on OH in patients with TSC-related SEGA. METHODS: Thirteen of 16 identified patients with TSC-related SEGA treated with mTORi from October 2007 to December 2018 were included. Serial magnetic resonance imaging (MRI) and clinical charts were reviewed to correlate symptoms and signs of increased intracranial pressure (iICP) with ventriculomegaly on MRI. A proposed ventriculomegaly scale was used: none (< 7 mm), mild (7-10 mm), moderate (11-30 mm), and severe (> 30 mm). OH was defined as moderate or severe ventriculomegaly, based on the largest measurement. RESULTS: Patients' median age at start of mTORi was 13 (6-17) years and five (38%) patients were female. Eight patients had OH at the time of mTORi initiation, five of whom were asymptomatic. Six patients had improvement of hydrocephalus on serial MRI imaging with mTORi therapy, while seven patients had no change based on the ventriculomegaly scale used. All three patients who presented with symptoms of iICP and had OH also had papilledema. None had worsening of hydrocephalus or required shunt placement. Out of five patients with symptoms of iICP, four avoided surgery. CONCLUSION: Most patients had asymptomatic OH at the time of diagnosis, and ventricular enlargement was not correlated with iICP symptoms. mTORi was successful for treatment of OH from TSC-related SEGA, even in the setting of acute symptoms of iICP.


Assuntos
Astrocitoma/complicações , Neoplasias Encefálicas/complicações , Hidrocefalia/complicações , Hidrocefalia/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Serina-Treonina Quinases TOR/antagonistas & inibidores , Esclerose Tuberosa/complicações , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
15.
Cancer Cell ; 37(4): 569-583.e5, 2020 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-32289278

RESUMO

Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variability in their clinical outcome. To address this, we characterized a cohort of >1,000 clinically annotated pLGG. Eighty-four percent of cases harbored a driver alteration, while those without an identified alteration also often exhibited upregulation of the RAS/MAPK pathway. pLGG could be broadly classified based on their alteration type. Rearrangement-driven tumors were diagnosed at a younger age, enriched for WHO grade I histology, infrequently progressed, and rarely resulted in death as compared with SNV-driven tumors. Further sub-classification of clinical-molecular correlates stratified pLGG into risk categories. These data highlight the biological and clinical differences between pLGG subtypes and opens avenues for future treatment refinement.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Variações do Número de Cópias de DNA , Regulação Neoplásica da Expressão Gênica , Rearranjo Gênico , Glioma/genética , Mutação , Adolescente , Neoplasias Encefálicas/classificação , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Perfilação da Expressão Gênica , Glioma/classificação , Glioma/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas Quinases Ativadas por Mitógeno/genética , Neurofibromina 1/genética , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas ras/genética
16.
J Neurointerv Surg ; 12(5): 495-498, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31699885

RESUMO

BACKGROUND: There are few data in the literature on the characteristics and natural history of intracranial arterial infundibular dilatations in children. METHODS: An institutional review board-approved retrospective review was performed of infundibula reported on MR angiography in patients <18 years of age at our tertiary pediatric institute from 1998 to 2016. Clinical data (age, sex, diagnosis, other vascular variants/pathologies) were recorded and images assessed for vessel of origin, infundibulum size and exact location. Ratios of infundibulum:parent artery were assessed at diagnosis and last follow-up. Temporal evolution to aneurysm was evaluated. RESULTS: We found 60 intracranial infundibula in 60 children (male:female=27:33; mean age 9.7±5.2 years, range 2-18 years,). Family history of aneurysms was present in 2/60 (3.3%). Syndromic association was found in 14/60 (23.3%), most frequently sickle cell disease (4/14=28.6%). Mean infundibulum size was 2.2±0.5 mm, with mean ratio to parent artery of 0.54±0.17. The most common location was on the P1-posterior cerebral artery (34/63=56.7%), whereas posterior communicating infundibula were seen in only 4/60 (6.7%) cases. Other cerebrovascular variants were seen in 12/60 (20%) patients. On follow-up imaging (in 32/60 patients over 86 patient-years, mean 32.3±35.7 months), no significant change in infundibulum:parent artery ratio was noted. None of the infundibular dilatations showed interval evolution to aneurysm. CONCLUSION: We present the largest reported cohort of pediatric intracranial arterial infundibula, which we found to be distinct from their adult counterparts with regard to location, etiology and temporal evolution. Growth over time and/or aneurysmal formation are rare, not necessitating frequent short-term imaging surveillance during childhood.


Assuntos
Angiografia Cerebral/métodos , Aneurisma Intracraniano/diagnóstico por imagem , Neuro-Hipófise/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Aneurisma Intracraniano/fisiopatologia , Masculino , Neuro-Hipófise/irrigação sanguínea , Artéria Cerebral Posterior/patologia , Estudos Retrospectivos
18.
J Pediatr ; 215: 75-82.e2, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31451185

RESUMO

OBJECTIVES: To determine prevalence and risk factors for brain injury in infants with critical congenital heart disease (CHD) from 2 sites with different practice approaches who were scanned clinically. STUDY DESIGN: Prospective, longitudinal cohort study (2016-2017) performed at Hospital for Sick Children Toronto (HSC) and Wilhelmina Children's Hospital Utrecht (WKZ), including 124 infants with cardiac surgery ≤60 days (HSC = 77; WKZ = 47). Magnetic resonance imaging was performed per clinical protocol, preoperatively (n = 100) and postoperatively (n = 120). Images were reviewed for multifocal (watershed, white matter injury) and focal ischemic injury (stroke, single white matter lesion). RESULTS: The prevalence of ischemic injury was 69% at HSC and 60% at WKZ (P = .20). Preoperative multifocal injury was associated with low cardiac output syndrome (OR, 4.6), which was equally present at HSC and WKZ (20% vs 28%; P = .38). Compared with WKZ, HSC had a higher prevalence of balloon-atrioseptostomy in transposition of the great arteries (83% vs 53%; P = .01) and more frequent preoperative focal injury (27% vs 6%; P = .06). Postoperatively, 30% of new multifocal injury could be attributed to postoperative low cardiac output syndrome, which was equally present at HSC and WKZ (38% vs 28%; P = .33). Postoperative focal injury was associated with intraoperative selective cerebral perfusion in CHD with arch obstruction at both sites (OR, 2.7). Compared with HSC, WKZ had more arch obstructions (62% vs 35%; P < .01) and a higher prevalence of new focal injury (36% vs 16%; P = .01). CONCLUSIONS: Brain injury is common in clinical cohorts of infants with critical CHD and related to practice approaches. This study confirms that the high prevalence of brain injury in critical CHD is a clinical concern and does not simply reflect the inclusion criteria of published research studies.


Assuntos
Lesões Encefálicas/epidemiologia , Encéfalo/patologia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Cardiopatias Congênitas/complicações , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Medição de Risco/métodos , Lesões Encefálicas/etiologia , Feminino , Seguimentos , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Países Baixos/epidemiologia , Ontário/epidemiologia , Prevalência , Prognóstico , Estudos Prospectivos , Fatores de Risco
19.
Childs Nerv Syst ; 35(12): 2399-2403, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31280353

RESUMO

BACKGROUND: Several complex pediatric neurovascular conditions are amenable to endovascular treatment. Given the unique anatomical and physiological challenges in children, there is an ongoing need for tools and techniques that provide accurate information for treatment planning, while minimizing exposure to ionizing radiation and contrast. This is more so for neonates and infants with high-flow arteriovenous (AV) shunts that are challenging to assess using conventional techniques. OBJECTIVE: In this brief report, we describe, through representative cases, the potential role of quantitative color-coded digital subtraction angiography (qDSA) in neuroendovascular procedures in children with high-flow AV shunting lesions. METHODS: Images were obtained using an ArtisQ biplane system (Siemens Healthineers, Erlangen, Germany). Post-processing was performed at a dedicated workstation (Syngo, Siemens) using the iFlow module to generate color-coded maps of individual digital subtraction angiography runs. CONCLUSION: Color-coded qDSA provides real-time quantitative information in high-flow AV shunting neurovascular lesions. This can potentially help direct treatment choices, optimize endovascular treatment protocols, monitor outcomes, and determine treatment end points.


Assuntos
Angiografia Digital/métodos , Fístula Arteriovenosa/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Fístula Arteriovenosa/cirurgia , Criança , Pré-Escolar , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Feminino , Humanos , Lactente , Malformações Arteriovenosas Intracranianas/cirurgia , Masculino
20.
Epilepsy Res ; 156: 106150, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31239182

RESUMO

PURPOSE: To review our experience with the Etomidate speech test (EST) for lateralizing language in children undergoing epilepsy surgery evaluation METHODS: This retrospective study included children (<18 years) with drug refractory focal epilepsy undergoing EST for bilateral or poorly reliable language representation on functional MRI. Data for consecutive children who underwent EST between January 2013 to June 2017 were reviewed. RESULTS: Twenty-one children (mean age at EST, 13.1 ±â€¯4.4 years) were studied, with 19-right hemispheric and 20 left hemispheric injections. Six patients had neurological co-morbidities. Duration of ipsilateral EEG slowing was sufficient for speech testing in all children with a single bolus of Etomidate per carotid artery. Language was lateralized to one hemisphere in 17 (80.9%) and bilateral in two cases. EST was unsuccessful in two patients because of diffuse EEG slowing. Contralateral transient frontal EEG slowing was seen in 14 (73.7%) cases. EST was well tolerated in all the patients. CONCLUSIONS: The EST was found to be successful and safe in lateralizing language in most of our drug refractory pediatric epilepsy cohort.


Assuntos
Epilepsia/fisiopatologia , Etomidato/farmacologia , Memória/efeitos dos fármacos , Fala/efeitos dos fármacos , Adolescente , Adulto , Amobarbital , Criança , Epilepsia/tratamento farmacológico , Etomidato/efeitos adversos , Feminino , Lateralidade Funcional/efeitos dos fármacos , Lateralidade Funcional/fisiologia , Humanos , Idioma , Masculino , Memória/fisiologia , Reprodutibilidade dos Testes
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