Publications by authors named "Marino Muxfeldt Bianchin"

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.

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Article Synopsis
  • Epilepsy surgery is effective for patients with drug-resistant epilepsy, but many are not referred for necessary evaluation and monitoring.
  • The CASES online tool was developed to assist physicians in making referrals for patients who might benefit from epilepsy surgery.
  • In a study with 211 patients, CASES identified 59.6% as candidates for surgical assessment, highlighting factors like seizure frequency and medication trials as important for referral decisions.
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Background:  Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies.

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Purpose: Drug-resistant epilepsy affects a substantial proportion (30-40 %) of patients with epilepsy, often necessitating video-electroencephalography (video-EEG) monitoring. In 2016, Sauro et al. introduced a set of measures aimed at improving the quality and safety indicators reported in video-EEG evaluations.

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Microglia are unique cells in the central nervous system (CNS), being considered a sub-type of CNS macrophage. These cells monitor nearby micro-regions, having roles that far exceed immunological and scavengering functions, being fundamental for developing, protecting and maintaining the integrity of grey and white matter. Microglia might become dysfunctional, causing abnormal CNS functioning early or late in the life of patients, leading to neurologic or psychiatric disorders and premature death in some patients.

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Background: Neurocysticercosis (NCC) is a parasitic infection of the central nervous system that has been associated with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). However, this association has not been completely established.

Objective: To evaluate the prevalence of calcified NCC (cNCC), its characteristics and a possible association between cNCC and MTLE-HS in a cohort of 731 patients with epilepsy.

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We conducted a double-blind randomized clinical trial in order to examine the effects and the safety of home-based transcranial direct current stimulation (tDCS) on depressive and anxious symptoms of patients with temporal lobe epilepsy (TLE). We evaluated 26 adults with TLE and depressive symptoms randomized into two different groups: active tDCS (tDCSa) and Sham (tDCSs). The patients were first submitted to 20 sessions of tDCS for 20 min daily, 5 days a week for 4 weeks and then received a maintenance tDCS application in the research laboratory once a week for 3 weeks.

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The relationship between epilepsy and psychiatric comorbidities has been recognized for centuries, but its pathophysiological mechanisms are still misunderstood. It is biologically plausible that genetic or epigenetic variations in genes that codify important neurotransmitters involved in epilepsy as well as in psychiatric disorders may influence the development of the latter in patients with epilepsy. However, this possibility remains poorly investigated.

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Background And Purpose: Inflammation plays a crucial role in brain damage following stroke. Here, we evaluate interleukin 23 (IL-23) and interleukin 17 (IL-17) in the inflammatory process and its relations with neurological findings of patients with acute ischemic stroke (AIS).

Material And Methods: Fifty consecutive patients with AIS admitted to our hospital within 24 h of stroke onset were enrolled in a prospective cohort study.

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Background And Purpose: Triggering receptors expressed on myeloid cells 1 and 2 (TREM-1 and TREM-2) are cell surface receptors important for modulation of microglia immune response. In this study, we evaluate serum levels of TREM-1 and TREM-2 as potential biomarkers in acute ischemic stroke (AIS).

Material And Methods: Prospective cohort study of 50 patients with AIS admitted at our hospital.

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Background: Despite advancements in stroke treatment, refractory clots are relatively common, prompting the exploration of alternative techniques. Bifurcation occlusions pose specific intraprocedural challenges, occasionally dealt with by two stentrievers deployed in Y-configuration. Previous studies have portrayed this strategy as feasible, yet little is known about its safety and efficacy, and how to best select retrievers.

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Background: Decompressive craniectomy (DC) may reduce mortality but might increase the number of survivors in a vegetative state. In this study, we assessed the long-term functional outcome of patients undergoing DC in a middle-income country.

Methods: This was a prospective observational study of patients undergoing DC at a single tertiary hospital in southern Brazil between January 2015 and December 2018.

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After decompressive craniectomy (DC), cranioplasty (CP) can help to normalize vascular and cerebrospinal fluid circulation besides improving the patient's neurological status. The aim of this study was to investigate the effects of CP on cerebral hemodynamics and on cognitive and functional outcomes in patients with and without a traumatic brain injury (TBI). Over a period of 3 years, 51 patients were included in the study: 37 TBI patients and 14 non-TBI patients.

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Cranioplasty (CP) after decompressive craniectomy (DC) is associated with neurological improvement. We evaluated neurological recovery in patients who underwent late CP (more than 6 months after DC) in comparison with early CP. This prospective study of 51 patients investigated neurological function using the Addenbrooke's Cognitive Examination Revised (ACE-R), Mini-Mental State Examination (MMSE), Barthel Index (BI), and Modified Rankin Scale (mRS) prior to and after CP.

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The effects of thrombolysis in seizure and epilepsy after acute ischemic stroke have been poorly explored. In this study, we examine risk factors and consequences of intravenous rt-PA for treatment of acute ischemic stroke. In a retrospective cohort study we evaluate risk factors for seizure and epilepsy after stroke thrombolysis, as well as the impact of seizures and epilepsy in outcome of stroke patients.

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Background: Despite colloid cyst in the third ventricle is a very usual cause of hydrocephalus, its xanthogranulomatous variant is rare. The most important differential diagnosis is the third ventricular craniopharyngioma. To the best of the authors' knowledge, there have been few cases of xanthogranulomatous variant colloid cysts reported in the English literature.

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Background: Cerebral autoregulation (CA) impairment after aneurysmal subarachnoid hemorrhage (SAH) has been associated with delayed cerebral ischemia and an unfavorable outcome. We investigated whether the early transient hyperemic response test (THRT), a transcranial Doppler (TCD)-based CA evaluation method, can predict functional outcome 6 months after aneurysmal SAH.

Methods: This is a prospective observational study of all aneurysmal SAH patients consecutively admitted to a single center between January 2016 and February 2017.

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Background: A plethora of reactive cellular responses emerge immediately after a traumatic spinal cord injury (SCI) and may influence the patient's outcomes. We investigated whether serum concentrations of neuron-specific enolase, interleukin-6, glial-derived neurotrophic factor, and neurotrophic growth factor reflect the acute-phase responses to different etiologies of SCI and may serve as predictive biomarkers of neurologic and functional outcomes.

Methods: Fifty-two patients were admitted to the intensive care unit after SCI due to traffic accidents, falls, and firearm wounds and had blood samples collected within 48 hours and 7 days after SCI.

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Introduction: Metabolic syndrome (MetS) is an emergent problem among patients with epilepsy. Here, we evaluate and compare the diagnostic yield and accuracy of different MetS criteria among adult patients with epilepsy to further explore the best strategy for diagnosis of MetS among patients with epilepsy.

Materials And Methods: Ninety-five epileptic adults from a tertiary epilepsy reference center were prospectively recruited over 22 weeks in a cross-sectional study.

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Objective: The NTRK2 gene encodes a member of the neurotrophic tyrosine kinase receptor family known as TrkB. It is a membrane-associated receptor with signaling and cellular differentiation properties that has been involved in neuropsychiatric disorders, including epilepsy. We report here the frequencies of NTRK2 allele variants in patients with temporal lobe epilepsy (TLE) compared to controls without epilepsy and explore the impact of these polymorphisms on major clinical variables in TLE.

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Objective:: To evaluate the usefulness of simple motor tasks such as hand grasping and tongue protrusion as predictors of extubation failure in critically ill neurological patients.

Methods:: This was a prospective cohort study conducted in the neurological ICU of a tertiary care hospital in the city of Porto Alegre, Brazil. Adult patients who had been intubated for neurological reasons and were eligible for weaning were included in the study.

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