BRAF/MEK Dual Inhibitors Therapy in Progressive and Anaplastic Pleomorphic Xanthoastrocytoma: Case Series and Literature Review.

Recurrent and anaplastic pleomorphic xanthoastrocytoma (r&aPXA) is a rare primary brain tumor that is challenging to treat. Two-thirds of PXA tumors harbor a BRAF gene mutation. BRAF inhibitors have been shown to improve tumor control. However, resistance to BRAF inhibition develops in most cases. Concurrent therapy with MEK inhibitors may improve tumor control and patient survival. In this study, we identified 5 patients diagnosed with BRAF-mutated PXA who received BRAF and MEK inhibitors over a 10-year interval at our institution. Patient records were evaluated, including treatments, adverse effects (AEs), outcomes, pathology, next-generation sequencing, and MRI. The median age was 22 years (range, 14-66 years), 60% male, and 60% anaplastic PXA. Median overall survival was 72 months (range, 19-112 months); 1 patient died of tumor-related hemorrhage while off therapy, and the other 4 experienced long-term disease control (21, 72, 98, and 112 months, respectively). Dual BRAF/MEK inhibitors were well tolerated, with only grade 1-2 AEs, including rash, neutropenia, fatigue, abdominal discomfort, and diarrhea. No grade 3-5 AEs were detected. A literature review was also performed of patients diagnosed with BRAF-mutated PXA and treated with BRAF and/or MEK inhibitors through August 2021, with a total of 32 cases identified. The median age was 29 years (range, 8-57 years) and the median PFS and OS were 8.5 months (range, 2-35 months) and 35 months (range, 10-80 months), respectively. The most common AEs were grade 1-2 fatigue and skin rash. Results of this case series and literature review indicate that dual-drug therapy with BRAF and MEK inhibitors for r&aPXA with BRAF V600E mutation may delay tumor progression without unexpected AEs.

Deep learning enabled brain shunt valve identification using mobile phones.

BACKGROUND AND OBJECTIVE: Accurate information concerning implanted medical devices prior to a Magnetic resonance imaging (MRI) examination is crucial to assure safety of the patient and to address MRI induced unintended changes in device settings. The identification of these devices still remains a very challenging task. In this paper, with the aim of providing a faster device detection, we propose the adoption of deep learning for medical device detection from X-rays. METHOD: In particular, we propose a pipeline for the identification of implanted programmable cerebrospinal fluid shunt valves using X-ray images of the radiologist workstation screens captured with mobile phone integrated cameras at different angles and illuminations. We compare the proposed convolutional neural network with published methods. RESULTS: Experimental results show that this approach outperforms methods trained on images digitally transferred directly from the scanners and then applied on mobile phones images (mean accuracy 95% vs 77%, Avg. Precision 0.96 vs 0.77, Avg. Recall 0.95 vs 0.77, Avg. F1-score 0.95 vs 0.77) and existing published methods based on transfer learning fine-tuned directly on the mobile phone images (mean accuracy 94% vs 75%, Avg. Precision 0.94 vs 0.75, Avg. Recall 0.94 vs 0.75, Avg. F1-score 0.94 vs 0.75). CONCLUSION: An automated shunt valve identification system is a promising safety tool for radiologists to efficiently coordinate the care of patients with implanted devices. An image-based safety system able to be deployed on a mobile phone would have significant advantages over methods requiring direct input from X-ray scanners or clinical picture archiving and communication system (PACS) in terms of ease of integration in the hospital or clinical ecosystems.

Rad-SpatialNet: A Frame-based Resource for Fine-Grained Spatial Relations in Radiology Reports.

This paper proposes a representation framework for encoding spatial language in radiology based on frame semantics. The framework is adopted from the existing SpatialNet representation in the general domain with the aim to generate more accurate representations of spatial language used by radiologists. We describe Rad-SpatialNet in detail along with illustrating the importance of incorporating domain knowledge in understanding the varied linguistic expressions involved in different radiological spatial relations. This work also constructs a corpus of 400 radiology reports of three examination types (chest X-rays, brain MRIs, and babygrams) annotated with fine-grained contextual information according to this schema. Spatial trigger expressions and elements corresponding to a spatial frame are annotated. We apply BERT-based models (BERTBASE and BERTLARGE) to first extract the trigger terms (lexical units for a spatial frame) and then to identify the related frame elements. The results of BERTLARGE are decent, with F1 of 77.89 for spatial trigger extraction and an overall F1 of 81.61 and 66.25 across all frame elements using gold and predicted spatial triggers respectively. This frame-based resource can be used to develop and evaluate more advanced natural language processing (NLP) methods for extracting fine-grained spatial information from radiology text in the future.

Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor.

PURPOSE: IDH wild-type (WT) glioblastoma (GBM) is an aggressive tumor with poor survival despite current therapies. The aim of this study was to characterize its genomic profile and determine whether a particular molecular signature is associated with improved survival outcomes. PATIENTS AND METHODS: Tumor samples from 232 patients with IDH-WT GBM were sequenced, and the landscape of genomic alterations was fully delineated. Genomics data from The Cancer Genome Atlas (TCGA) cohort were analyzed for confirmation. Association of alterations with survival was evaluated in both univariable and multivariable approaches. RESULTS: The genomic landscape of IDH-WT GBM revealed a high frequency of CDKN2A/B loss, TERT promoter mutations, PTEN loss, EGFR alteration, and TP53 mutations. Novel variants or gene mutations, such as ARID1B and MLL2, were identified. To better understand synergistic effects and facilitate decision making for precision medicine, we identified 11 pairs of gene alterations that tended to co-occur or were mutually exclusive, which were confirmed in the TCGA cohort. Survival analysis showed that genomic alterations in TP53 were associated with worse overall survival (OS). However, alterations in PI3K class I genes were associated with significantly better OS (univariable analysis: P = .002; multivariable analysis: hazard ratio [HR], 0.5785; P = .00162) and longer progression-free survival (univariable analysis: P = .0043; multivariable analysis: HR, 0.6228; P = .00913). CONCLUSION: Genomic alterations in PI3K class I are a favorable prognostic factor in IDH-WT GBM. This new prognostic biomarker may facilitate risk stratification of patients, assist in clinical trial enrollment, and provide potential therapeutic targets.

Preflight, In-Flight, and Postflight Imaging of the Cervical and Lumbar Spine in Astronauts.

BACKGROUND: Back pain is a common complaint during spaceflight that is commonly attributed to intervertebral disc swelling in microgravity. Ultrasound (US) represents the only imaging modality on the International Space Station (ISS) to assess its etiology. The present study investigated: 1) The agreement and correlation of spinal US assessments as compared to results of pre- and postflight MRI studies; and 2) the trend in intervertebral disc characteristics over the course of spaceflight to ISS. METHODS: Seven ISS astronauts underwent pre- and postflight US examinations that included anterior disc height and anterior intervertebral angles with comparison to pre- and postflight MRI results. In-flight US images were analyzed for changes in disc height and angle. Statistical analysis included repeated measures ANOVA with Bonferroni post hoc analysis, Bland-Altman plots, and Pearson correlation. RESULTS: Bland-Altman plots revealed significant disagreement between disc heights and angles for MRI and US measurements while significant Pearson correlations were found in MRI and US measurements for lumbar disc height (r2 = 0.83) and angle (r2 = 0.89), but not for cervical disc height (r2 = 0.26) or angle (r2 = 0.02). Changes in anterior intervertebral disc angle-initially increases followed by decreases-were observed in the lumbar and cervical spine over the course of the long-duration mission. The cervical spine demonstrated a loss of total disc height during in-flight assessments (∼0.5 cm). DISCUSSION: Significant disagreement but significant correlation was noted between US and MRI measurements of disc height and angle. Consistency in imaging modality is important for trending measurements and more research related to US technique is required.Harrison MF, Garcia KM, Sargsyan AE, Ebert D, Riascos-Castaneda RF, Dulchavsky SA. Preflight, in-flight, and postflight imaging of the cervical and lumbar spine in astronauts. Aerosp Med Hum Perform. 2018; 89(1):32-40.

Enfermedad de Rosai-Dorfman (ERD) con compromiso exclusivo del sistema nervioso central. Presentación de caso y revisión de literatura / Rosai-Dorfman Disease (RDD) With Isolated Compromise of the Central Nervous System. Case Report and Literature Review

La enfermedad de Rosai-Dorfman (ERD) o histiocitosis sinusal con linfadenopatía masiva (HSLM) es una entidad histiocítica benigna rara, que usualmente afecta los ganglios linfáticos. Se han descrito algunos casos en el sistema nervioso central, y son excepcionales los que aparecen sin afección nodular concomitante. La falta de patrones imaginológicos cerebrales típicos puede llevar a una cirugía por un diagnóstico erróneo, con causas atribuidas a un probable origen maligno. Usualmente, el diagnóstico histopatológico se realiza después del procedimiento quirúrgico. Esta entidad clínico-patológica carece de consenso en diagnóstico, curso clínico y tratamiento. Se presenta un caso de ERD con extensión intracraneal, con la lectura retrospectiva de los estudios imaginológicos.

Rosai-Dorfman Disease (RDD) or Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is a rare benign histiocytic disorder, usually affecting the lymph nodes. Intracranial involvement is an uncommon variant of the disease; however, intracranial lesions without concomitant nodular involvement is exceptional. The lack of typical brain imaging patterns can lead to surgery due to misdiagnosis, with causes attributed to a probable malignant origin. Histopathological diagnosis is usually made after the surgical procedure. There is no consensus related to diagnosis, clinical course and treatment of this disease. A case report is presented on isolated intracranial RDD, with a retrospective reading of the imaging studies.

Museo de anatomía sección neuroanatomía / Anatomy museum neuroanatomy section

Se realizó un sofware de la sección de neuroanatomía en formato de CD-ROOM mediante la digitalización, edición, descripción y programación de las piezas del museo de anatomía de la Universidad el Bosque