Introduction: Autoimmune diseases often present in a systemic manner, affecting various organs and tissues. Involvement of the central and peripheral nervous system is not uncommon in these conditions and is associated with high morbidity and mortality. Therefore, early recognition of the neuropsychiatric manifestations associated with rheumatologic diseases is essential for the introduction of appropriate therapies with the objective of providing a better quality of life for individuals.
View Article and Find Full Text PDFThe middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
View Article and Find Full Text PDFTrousseau Syndrome (TS) is defined as the occurrence of thromboembolic events prior to or simultaneously with the diagnosis of visceral neoplasia. In cases of multiple thromboembolisms, considering the possibility of TS, a screening for neoplasms may be warranted. We present a case study of a 61-year-old female who presented a neurological deficit.
View Article and Find Full Text PDFBackground: Pulmonary artery trunk aneurysm (PATA) is a rare and complex vascular anomaly characterized by the abnormal dilation of the initial portion of the pulmonary artery, posing significant diagnostic and therapeutic challenges.
Purpose: This clinical case report aims to describe the follow-up of a patient with PATA, emphasizing the role of imaging in diagnosis and monitoring, as well as discussing potential associations with other conditions.
Research Design: The study is designed as a clinical case report, detailing the longitudinal follow-up of a single patient with PATA.
Am J Physiol Endocrinol Metab
October 2024
Thyroid eye disease (TED) is expressed as orbital inflammation, and serum levels of several proinflammatory cytokines have been studied among patients with Graves' disease (GD) with and without TED; however, a more sensitive and specific marker for the different phases of GD and TED is still lacking. Seventeen active TED, 16 inactive TED, 16 GD without TED, and 16 healthy controls were recruited. Serum IL-17A, MMP-2, MMP-3, and MMP-9 were measured by multiplex bead assay.
View Article and Find Full Text PDFIntroduction: Lead poisoning in childhood remains an important public health concern. We highlight the radiological findings in a patient with a high blood lead concentration.
Case Summary: A 7-year-old girl presented to hospital with abdominal pain, nausea, and asthenia.
Background: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms. An expanded phenotype was proposed based on additional findings, including one previous report of a patient presenting with moyamoya disease.
Case Presentation: The authors report a patient presenting with early neurodevelopmental delay, hydrocephalus, renal malformation, and dysmorphisms.
Purpose: This study aimed to analyze the association between magnetic resonance imaging apparent diffusion coefficient map value and histopathological differentiation in patients who underwent eye enucleation due to retinoblastomas.
Methods: An observational chart review study of patients with retinoblastoma that had histopathology of the lesion and orbit magnetic resonance imaging with apparent diffusion coefficient analysis at Hospital de Clínicas de Porto Alegre between November 2013 and November 2016 was performed. The histopathology was reviewed after enucleation.
Purpose: This study evaluated the ocular surface disease (OSD), especially dry eye disease (DED) parameters by combining qualitative and quantitative tools, including tear matrix metalloproteinase 9 (MMP-9), in patients with Graves' disease (GD) with and without Thyroid eye disease (TED).
Patients And Methods: A total of 17 active TED, 16 inactive TED, 16 GD without ophthalmopathy, and 16 healthy controls were included. All patients were assessed with CAS, ophthalmometry, qualitative tear MMP-9, Ocular Surface Disease Index (OSDI), ocular surface staining, Schirmer test, meibography, tear meniscus height, conjunctival hyperemia, and non-invasive tear film break-up time.
We present a patient referred for investigation of adrenal insufficiency, confirmed due to disseminated paracoccidioidomycosis (PCM), with abdominal and central nervous system (CNS) involvement. Establishing the pathogenesis and immunological processes involved in chronic or latent infections by PCM has been challenging. Medical doctors caring for patients with immunodeficiencies should learn about these fungal infections to properly guide travel planning and have this possibility in the diagnostic arsenal when the patient returns from endemic areas.
View Article and Find Full Text PDFFor a long time, technical obstacles have hampered the acquisition of high-resolution images and the development of reliable processing protocols for spinal cord (SC) MRI. Fortunately, this scenario has changed in the past 5-10 years, due to hardware and software improvements. Nowadays, with advanced protocols, SC MRI is considered a useful tool for several inherited and acquired neurologic diseases, not only for diagnosis approach but also for pathophysiological unraveling and as a biomarker for disease monitoring and clinical trials.
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