Introduction: Tumefactive multiple sclerosis is a demyelinating disease that demonstrates tumor-like features on magnetic resonance imaging. Although diagnostic challenges without biopsy have been tried by employing radiological studies and cerebrospinal fluid examinations, histological investigation is still necessary for certain diagnosis in some complicated cases.
Case Presentation: A 37-year-old Asian man complaining of mild left leg motor weakness visited our clinic. Magnetic resonance imaging demonstrated high-signal lesions in bilateral occipital forceps majors, the left caudate head, and the left semicentral ovale on fluid-attenuated inversion recovery and T2-weighted imaging, and these lesions were enhanced by gadolinium-dimeglumin. Tumefactive multiple sclerosis was suspected because the enhancement indistinctly extended along the corpus callosum on magnetic resonance imaging and scintigraphy showed a low malignancy of the lesions. But oligoclonal bands were not detected in cerebrospinal fluid. In a few days, his symptoms fulminantly deteriorated with mental confusion and left hemiparesis, and steroid pulse therapy was performed. In spite of the treatment, follow-up magnetic resonance imaging showed enlargement of the lesions. Therefore, emergent biopsy was performed and finally led to the diagnosis of demyelinating disease. The enhanced lesion on magnetic resonance imaging disappeared after one month of prednisolone treatment, but mild disorientation and left hemiparesis remained as sequelae.
Conclusions: Fulminant aggravation of the disease can cause irreversible neurological deficits. Thus, an early decision to perform a biopsy is necessary for exact diagnosis and appropriate treatment if radiological studies and cerebrospinal fluid examinations cannot rule out the possibility of brain tumors.
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http://dx.doi.org/10.1186/1752-1947-6-104 | DOI Listing |
Am J Sports Med
January 2025
Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
Background: Knee injuries resulting in purely cartilaginous defects are rare, and controversy remains regarding the reliability of chondral-only fixation.
Purpose: To systematically review the literature for fixation methods and outcomes after primary fixation of chondral-only defects within the knee.
Study Design: Systematic review; Level of evidence, 5.
Am J Sports Med
January 2025
Department of Orthopaedic Surgery, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, South Korea.
Background: Studies are still limited on the isolated effect of retear after arthroscopic rotator cuff repair (ARCR) on functional outcomes after the midterm period.
Purpose: To assess the effect of retear at midterm follow-up after ARCR and to identify factors associated with the need for revision surgery.
Study Design: Cohort study; Level of evidence, 3.
Eur J Hum Genet
January 2025
Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
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January 2025
Division of Cardiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM.
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January 2025
Cardiovascular Research Center, Rajaie Cardiovascular, Medical, and Research Center, University of Medical Sciences, Tehran, Iran.
Assessing myocardial viability is crucial for managing ischemic heart disease. While late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) is the gold standard for viability evaluation, it has limitations, including contraindications in patients with renal dysfunction and lengthy scan times. This study investigates the potential of non-contrast CMR techniques-feature tracking strain analysis and T1/T2 mapping-combined with machine learning (ML) models, as an alternative to LGE-CMR for myocardial viability assessment.
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