Publications by authors named "Joao Tarrio"
Article Synopsis
- Adult-onset leukodystrophies are rare neurological disorders that lead to the degeneration of white matter in the brain, with one case linked to a novel gene variant.
- A 40-year-old patient presented with chronic headaches and a history of depression, showing significant brain changes on MRI, along with two genetic variants identified through whole-exome sequencing.
- This case highlights the variable presentations of adult-onset leukodystrophies and suggests that some genetic variants may result in milder symptoms than typically expected.
Introduction: There have been reports of patients with Ménière´s disease (MD) showing unexplained audiometric air-bone gaps at low frequencies. Little is known about the clinical significance of this finding. The objective of this study was to describe this phenomenon while relating it with clinical features, namely the incidence of attacks.
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- The study assesses the efficacy of dynamic susceptibility contrast-enhanced (DSC) MRI parameters in differentiating between primary CNS lymphoma (PCNSL), glioblastoma, and metastasis in brain tumors.
- A cohort of 39 patients was analyzed, focusing on five DSC parameters: relative cerebral blood volume (rCBV), percentage of signal recovery (PSR), and others, to evaluate their diagnostic performance.
- Results indicated that rCBV was highly effective in distinguishing metastasis and glioblastoma from PCNSL, while PSR also showed significant differences, particularly identifying metastatic tumors compared to glioblastoma.
Carotid artery dissection causes 2.5% of ischemic acute strokes and is more common in younger rather than older patients. Extracranial lesions often manifest as transient and reversible neurological deficits until a stroke occurs.
View Article and Find Full Text PDFCLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation.
View Article and Find Full Text PDFOlfactory Cleft Length: A Possible Risk Factor for Persistent Post-COVID-19 Olfactory Dysfunction.
ORL J Otorhinolaryngol Relat Spec
June 2023
Introduction: To date, little is known about predisposing factors for persistent COVID-19-induced olfactory dysfunction (pCIOD). The objective was to determine whether olfactory cleft (OC) measurements associate with pCIOD risk.
Material And Methods: Three subgroups were recruited: group A included patients with pCIOD, group B included patients without olfactory dysfunction following SARS-CoV-2 infection (ntCIOD), and group C consisted in controls without past history of SARS-CoV-2 infection (noCOVID-19).