Publications by authors named "Takashi S Sato"

Article Synopsis
  • RASopathies are a group of genetic syndromes caused by mutations in genes related to the Ras/MAPK signaling pathway, which affects development and can lead to overlapping features across various disorders like Noonan syndrome and neurofibromatosis type 1.
  • These conditions are rare individually but collectively affect about 1 in 1000 newborns and can lead to a range of issues in the cardiovascular, lymphatic, musculoskeletal, and nervous systems, with both benign and malignant tumors associated with some disorders.
  • Recognizing RASopathies is important for radiologists and healthcare providers, as there are unique imaging characteristics and treatment approaches, including using cancer medications to manage symptoms stemming from the Ras
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Perinatal venous infarcts are underrecognized clinically and at imaging. Neonates may be susceptible to venous infarcts because of hypercoagulable state, compressibility of the dural sinuses and superficial veins due to patent sutures, immature cerebral venous drainage pathways, and drastic physiologic changes of the brain circulation in the perinatal period. About 43% of cases of pediatric cerebral sinovenous thrombosis occur in the neonatal period.

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Article Synopsis
  • Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare pediatric condition that requires early detection for effective treatment.
  • Researchers tested the use of MRI brain volumetry in genetically modified miniswine to track the disease's progression over time.
  • Results showed significant differences in brain region volumes between CLN2 miniswine and wild type controls, highlighting the potential of volumetric analysis for early diagnosis and monitoring of CLN2 disease.
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Objective: H3K27M mutation in gliomas has prognostic implications. Previous magnetic resonance imaging (MRI) studies have reported variable rates of tumoral enhancement, necrotic changes, and peritumoral edema in H3K27M-mutant gliomas, with no distinguishing imaging features compared with wild-type gliomas. We aimed to construct an MRI machine learning (ML)-based radiomic model to predict H3K27M mutation in midline gliomas.

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Background: Kidney disease has historically been the primary source of early mortality in adults with tuberous sclerosis complex (TSC). Kidney imaging surveillance promotes early detection of lesions requiring intervention. We describe kidney imaging frequency in relationship to patient-level characteristics for commercially insured patients with TSC in the United States.

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Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by multiple tumors throughout the body. Supratentorial hamartomas (or tubers), are a very common CNS feature of TSC. Cerebellar tubers are much less common in TSC.

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As the expectations of modern learners change, it is important for educators to adapt. Quick Response codes are an easy way to distribute web-based information to audiences. We familiarize the reader with Quick Response codes and demonstrate a few of the simple ways they can be incorporated into radiology lectures to increase audience engagement including reference dissemination, audience participation, surveys and quizzes.

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ongenital ypotonia, pilepsy, evelopmental delay, and igital nomalies (CHEDDA) is a recently identified neurodevelopmental syndrome which has only 8 reported cases to date since its existence was proposed in 2007. We report a case of CHEDDA syndrome identified in a newborn female with congenital anomalies including Pierre-Robin sequence, arthrogryposis, craniosynostosis, cleft palate, and cardiac abnormalities who subsequently developed epilepsy at 1 month of life. Diagnosis was identified by whole-exome sequencing identifying mutations in a conserved histidine-rich motif within the gene Atrophin-1.

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Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presentations. Large animal models are useful to help dissect molecular mechanisms, determine relevant biomarkers, and develop effective therapeutics. Here, we studied a NF1 minipig model (NF1) for the first 12 months of life to evaluate phenotype development, track disease progression, and provide a comparison to human subjects.

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Chronic recurrent multifocal osteomyelitis (CRMO) is a pediatric autoinflammatory disorder that is characterized by multiple sterile inflammatory bone lesions with a relapsing and remitting course. CRMO belongs to the autoinflammatory family of rheumatologic disorders based on absence of significant titers of autoantibodies and autoreactive T-lymphocytes. In absence of pathognomonic clinical, radiographic or pathological features, diagnosis can be challenging.

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Simulation is a promising method for improving clinician performance, enhancing team training, increasing patient safety, and preventing errors. Training scenarios to enrich medical student and resident education, and apply toward competency assessment, recertification, and credentialing are important applications of simulation in radiology. This review will describe simulation training for procedural skills, interpretive and noninterpretive skills, team-based training and crisis management, professionalism and communication skills, as well as hybrid and in situ applications of simulation training.

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Rationale And Objectives: Chest radiographs can be demanding, making this an area of focus during most first-year resident chest rotations. This often comes at a cost of cross-sectional imaging, and new residents are often not initially comfortable with reading chest computed tomographic angiograms (CTAs) for pulmonary embolisms (PEs). We created a teaching file of CTAs to improve the detection of PEs.

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Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder of children and young adults that is characterized by nonbacterial osteomyelitis. Patients typically present with multifocal bone pain secondary to sterile osseous inflammation, and the disease has a relapsing and remitting course. The cause of CRMO remains unclear, although the results of several studies have suggested a genetic component.

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Papillary tumor of the pineal region (PTPR) is an uncommon tumor recently added to the WHO classification of CNS tumors. We report a case of PTPR in a young boy that was noteworthy for early CSF dissemination and relentless progression. In spite of intensive chemotherapy and comprehensive radiotherapy, the boy died.

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We report a case of primary multifocal osseous lymphoma in a 6-year-old girl presenting with multifocal osteolytic lesions without systemic symptoms or identifiable non-osseous primary tumor. The differential diagnoses for such a presentation include histiocytosis X, chronic recurrent multifocal osteomyelitis, acute lymphoblastic leukemia, metastatic disease, and primary bone lymphoma. Although non-Hodgkin lymphoma is common in the pediatric population, its presentation as a primary bone tumor, especially with multifocal disease, is extremely rare and is frequently misdiagnosed.

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