Top 100 Most Cited Papers on Multimodality Imaging for Complex Congenital Heart Disease. A Bibliometric Analysis.

Complex congenital heart disease (CCHD) is a group of heart defects present at birth. Some imaging methods can support the diagnosis of these pathologies, such as echocardiography, computed tomography, and magnetic resonance imaging. This study aimed to perform a bibliometric analysis of the top 100 articles cited on CCHD. Articles from 2013 to 2023 found in Scopus were scanned using 15 CCHD topics titles crossed with echocardiography, computed tomography, and magnetic resonance imaging. Duplicated manuscripts were eliminated using Microsoft Excel software, and the publications were ranked according to their citation count. This study selected and analyzed the top 100 most cited English-language papers. The top 100 most cited publications accumulated 16,563 citations. The manuscript with the most citations obtained 1086, representing 6.55% of the total citations. The year 2014 had the highest number of publications, with 27 papers. The first authors had affiliations from 44 countries; the United States was the country that contributed the most, with 54 manuscripts. Boston Children's Hospital was the institution that provided more articles to the top 100. Finally, the Ebstein anomaly was the topic with the highest number of citations. This study identified the 100 most cited on CCHD, and the results obtained can provide practical guidance to clinicians and researchers to familiarize themselves with the most influential publications in this field.

Multidisciplinary Management of Aneurysmal Bone Cyst in Paediatric Patients: A Case Report.

BACKGROUND: The aneurysmal bone cyst is a benign neoplasm that tends to form the appearance of a mass with a bony septum that forms cavities with blood inside. It is estimated to represent 1% of bone tumours and has an incidence of 0.14 per 100,000 people worldwide. Current publications have not shown a multidisciplinary approach that can benefit patients, mainly in the functionality and quality of the management approach. OBJECTIVE: Describe the multidisciplinary approach and the benefits of quality of life and functionality in this diagnosis. CASE: A paediatric patient was diagnosed with an aneurysmal bone cyst located in the cervical spine, which initially manifested with muscle pain, enlargement of the posterior cervical region, and difficulty in performing arcs of movement. He was treated with multidisciplinary management with surgery, embolisation, radiation, and bisphosphonate support. CONCLUSION: The purpose of approaching multidisciplinary management helped to improve the accompanying symptoms that prevented our patient from having an active and quality life. However, more successful cases have not been reported to establish the best therapeutic protocol.

Identification of Radiomic Signatures in Brain MRI Sequences T1 and T2 That Differentiate Tumor Regions of Midline Gliomas with H3.3K27M Mutation.

BACKGROUND: Radiomics refers to the acquisition of traces of quantitative features that are usually non-perceptible to human vision and are obtained from different imaging techniques and subsequently transformed into high-dimensional data. Diffuse midline gliomas (DMG) represent approximately 20% of pediatric CNS tumors, with a median survival of less than one year after diagnosis. We aimed to identify which radiomics can discriminate DMG tumor regions (viable tumor and peritumoral edema) from equivalent midline normal tissue (EMNT) in patients with the positive H3.F3K27M mutation, which is associated with a worse prognosis. PATIENTS AND METHODS: This was a retrospective study. From a database of 126 DMG patients (children, adolescents, and young adults), only 12 had H3.3K27M mutation and available brain magnetic resonance DICOM file. The MRI T1 post-gadolinium and T2 sequences were uploaded to LIFEx software to post-process and extract radiomic features. Statistical analysis included normal distribution tests and the Mann-Whitney U test performed using IBM SPSS® (Version 27.0.0.1, International Business Machines Corp., Armonk, NY, USA), considering a significant statistical p-value ≤ 0.05. RESULTS: EMNT vs. Tumor: From the T1 sequence 10 radiomics were identified, and 14 radiomics from the T2 sequence, but only one radiomic identified viable tumors in both sequences (p < 0.05) (DISCRETIZED_Q1). Peritumoral edema vs. EMNT: From the T1 sequence, five radiomics were identified, and four radiomics from the T2 sequence. However, four radiomics could discriminate peritumoral edema in both sequences (p < 0.05) (CONVENTIONAL_Kurtosis, CONVENTIONAL_ExcessKurtosis, DISCRETIZED_Kurtosis, and DISCRETIZED_ExcessKurtosis). There were no radiomics useful for distinguishing tumor tissue from peritumoral edema in both sequences. CONCLUSIONS: Less than 5% of the radiomic characteristics identified tumor regions of medical-clinical interest in T1 and T2 sequences of conventional magnetic resonance imaging. The first-order and second-order radiomic features suggest support to investigators and clinicians for careful evaluation for diagnosis, patient classification, and multimodality cancer treatment planning.

WHO CNS5 2021 includes specific mutations in gliomas that can be identified with MRI quantitative biomarkers.

In 2021, the latest version of the World Health Organization classification of central nervous system tumors (WHO CNS5) was published, which is considered an international standard. The first editions of this classification were based on histological characteristics and, subsequently, aspects related to new knowledge were incorporated. In the 2016 revision, molecular characteristics were implemented for the classification and staging of gliomas, such as the presence of mutations in IDH1 or IDH2. Currently, advanced magnetic resonance imaging (MRI) techniques allow assessing for the presence of 2-HG (increased oncometabolite that precedes IDH mutations), whereby IDH mutations can be indirectly identified, without invasive procedures being required. Advanced MRI is a growing field, highly useful for diagnosis and management of different pathologies. This document addresses the implications of WHO CNS5 classification in the evaluation of gliomas, as well as historical aspects, the bases of conventional MRI, and advanced MRI sequences useful in current classification.

En 2021 se publicó la última versión de la clasificación de tumores del sistema nervioso central de la Organización Mundial de la Salud (WHO CNS5 por sus siglas en inglés), considerada un estándar internacional. Las primeras ediciones se basaron en características histológicas y posteriormente se incorporaron aspectos relacionados con nuevos conocimientos. En la revisión de 2016 se implementaron características moleculares para la clasificación y estadificación de los gliomas, como la presencia de mutaciones en IDH1 y IDH2. Actualmente, las técnicas de resonancia magnética avanzada permiten valorar la presencia de 2-HG (oncometabolito incrementado ante mutaciones en IDH), de forma que indirectamente y sin procedimientos invasivos pueden identificarse las mutaciones en IDH. La resonancia magnética avanzada es un procedimiento aún en desarrollo, de gran utilidad para el diagnóstico y manejo de distintas patologías. En el presente documento se abordan las implicaciones de la WHO CNS5 en la evaluación de gliomas, así como aspectos históricos, las bases de la resonancia magnética convencional y secuencias de resonancia magnética avanzada útiles en la clasificación actual.

WHO CNS5 2021 incluye mutaciones específicas en gliomas que pueden ser identificadas con biomarcadores cuantitativos de resonancia magnética / WHO CNS5 2021 includes specific mutations in gliomas that can be identified with MRI quantitative biomarkers

Resumen En 2021 se publicó la última versión de la clasificación de tumores del sistema nervioso central de la Organización Mundial de la Salud (WHO CNS5 por sus siglas en inglés), considerada un estándar internacional. Las primeras ediciones se basaron en características histológicas y posteriormente se incorporaron aspectos relacionados con nuevos conocimientos. En la revisión de 2016 se implementaron características moleculares para la clasificación y estadificación de los gliomas, como la presencia de mutaciones en IDH1 y IDH2. Actualmente, las técnicas de resonancia magnética avanzada permiten valorar la presencia de 2-HG (oncometabolito incrementado ante mutaciones en IDH), de forma que indirectamente y sin procedimientos invasivos pueden identificarse las mutaciones en IDH. La resonancia magnética avanzada es un procedimiento aún en desarrollo, de gran utilidad para el diagnóstico y manejo de distintas patologías. En el presente documento se abordan las implicaciones de la WHO CNS5 en la evaluación de gliomas, así como aspectos históricos, las bases de la resonancia magnética convencional y secuencias de resonancia magnética avanzada útiles en la clasificación actual.

Abstract In 2021, the latest version of the World Health Organization classification of central nervous system tumors (WHO CNS5) was published, which is considered an international standard. The first editions of this classification were based on histological characteristics and, subsequently, aspects related to new knowledge were incorporated. In the 2016 revision, molecular characteristics were implemented for the classification and staging of gliomas, such as the presence of mutations in IDH1 or IDH2. Currently, advanced magnetic resonance imaging (MRI) techniques allow assessing for the presence of 2-HG (increased oncometabolite that precedes IDH mutations), whereby IDH mutations can be indirectly identified, without invasive procedures being required. Advanced MRI is a growing field, highly useful for diagnosis and management of different pathologies. This document addresses the implications of WHO CNS5 classification in the evaluation of gliomas, as well as historical aspects, the bases of conventional MRI, and advanced MRI sequences useful in current classification.

Diagnostic Performance of Selected MRI-Derived Radiomics Able to Discriminate Progression-Free and Overall Survival in Patients with Midline Glioma and the H3F3AK27M Mutation.

BACKGROUND: Radiomics refers to a recent area of knowledge that studies features extracted from different imaging techniques and subsequently transformed into high-dimensional data that can be associated with biological events. Diffuse midline gliomas (DMG) are one of the most devastating types of cancer, with a median survival of approximately 11 months after diagnosis and 4-5 months after radiological and clinical progression. METHODS: A retrospective study. From a database of 91 patients with DMG, only 12 had the H3.3K27M mutation and brain MRI DICOM files available. Radiomic features were extracted from MRI T1 and T2 sequences using LIFEx software. Statistical analysis included normal distribution tests and the Mann-Whitney U test, ROC analysis, and calculation of cut-off values. RESULTS: A total of 5760 radiomic values were included in the analyses. AUROC demonstrated 13 radiomics with statistical significance for progression-free survival (PFS) and overall survival (OS). Diagnostic performance tests showed nine radiomics with specificity for PFS above 90% and one with a sensitivity of 97.2%. For OS, 3 out of 4 radiomics demonstrated between 80 and 90% sensitivity. CONCLUSIONS: Several radiomic features demonstrated statistical significance and have the potential to further aid DMG diagnostic assessment non-invasively. The most significant radiomics were first- and second-order features with GLCM texture profile, GLZLM_GLNU, and NGLDM_Contrast.