Clinical Neuroscience

Isocitrate dehydrogenase mutations in defining the biology of and supporting clinical decision making in glioblastoma

KÁLOVITS Ferenc, TOMPA Márton, NAGY Ádám, BERNADETTE Kalman

JULY 30, 2018

Clinical Neuroscience - 2018;71(07-08)

DOI: https://doi.org/10.18071/isz.71.0237

Background and purpose - Oncogenesis is related to a sequential accumulation of somatic mutations. Comprehensive characterizations of the genomic landscapes have been completed recently for several tumors, glioblastoma being among the first ones. Our own translational research studies have been focused on defining molecular subtypes of glioblastoma in the clinical setting because of an expected prognostic and therapeutic utility of the information. Somatic mutations in genes of the isocitrate dehydrogenase (IDH) enzyme family appear to be among the best-defined biomarkers that also influence tumor behavior and confer clinical utility. Methods - We have reviewed the literature including our own results to summarize basic science and clinical correlates of IDH mutations. Results - The surveyed data reveal genomic, transcriptomic, epigenomic and biochemical consequences of IDH mutations in the context of glioblastoma biology and phenotype. In addition, a few studies highlight the therapeutic potential of targeting IDH, although thus far all tests have only been conducted in the preclinical setting. Conclusions - Somatic mutations in isoforms of IDH genes represent important biomarkers that correlate with biochemical, biological and phenotypic features of glioblastoma, and may also facilitate the development of new therapeutic strategies complementing the currently available approved protocols.

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Clinical Neuroscience

[Paradigm shift in management of patients with vertigo and imbalance]

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[Dizziness is one of the most common causes of medical visits. Management of the dizzy patient may be challenging both for the general practitioner, in emergency departments, and special clinics, as behind a seemingly homogeneous clinical presentation several very different etiologies may occur. Research of the last two century enriched our knowledge about physiology and pathophysiology of the vestibular system. Much knowledge is now available about the labyrinth being able to sense head motions and gravity, processing of afferent vestibular stimuli, reflectory oculomotor and postural control, or recovery of the vestibular system. Based on scientific results new beside tests have been introduced including provocation maneuvers for detecting ectopic otoliths in different semicircular canals, head impulse test to examine function of the vestibulo-ocular reflex, and the HINTS+ battery for differentiation of peripheral or central origin of an acute vestibular syndrome. Technical innovations like videooculography and vestibular evoked myogenic potentials enable us to selectively and side-specifically examine the function of all six semicircular canals and two otolith organs. Pathomechanism of disorders with vertigo and dizziness became more clear resulting in the development or amendment of diagnostic criteria of several vestibular disorders including vestibular migraine, Menière’s disease, benign paroxysmal positional vertigo, persistent postural-perceptual dizziness, bilateral vestibulopathy. Broader knowledge about the pathomechanism promoted the development of new therapeutic methods like different repositioning maneuvers in benign paroxysmal positional vertigo, pharmaceutical therapies, vestibular rehabilitation, and psychotherapy. We aimed to summarize the novelties in the field of oto-neurology.]

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Clinical Neuroscience

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[A szerzők 31 thoracolumbalis gerincsérült minimálisan invazív műtéti ellátásával szerzett tapasztalataikról számolnak be. A betegek orvosi dokumentációját, radiológiai (preoperatív CT és MRI, valamint posztoperatív CT három és hat hónap után) képanyagát retrospektíven elemzik. A be-avatkozások során minden behelyezett csavar megfelelő pozícióba került, idegrendszeri funkcióromlás és sebfertőzés nem fordult elő. Az utánkövetés során három esetben alakult ki radiológiai korrekcióvesztés, melynek azonban klinikai következménye nem volt. Csavarlazulást, a fémanyag törését nem észleltük. Saját tapasztalataink alapján, a nemzetközi irodalmi adatokkal egybevágóan, a mini-málisan invazív módszer alkalmazását a gerincsérültek ellátása során javasoljuk.]

Clinical Neuroscience

Novel structured MRI reporting system in neonatal hypoxic-ischemic encephalopathy - issues of development and first use experiences

LAKATOS Andrea, KOLOSSVÁRY Márton, SZABÓ Miklós, JERMENDY Ágnes, BAGYURA Zsolt, BARSI Péter, RUDAS Gábor, KOZÁK R. Lajos

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Clinical Neuroscience

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Introduction - Uric acid is a molecule that is known to act as a natural antioxidant in acute oxidative stress conditions such as acute ischemic stroke (AIS). Although there are several studies on the prognostic value of serum uric acid (UA) level, especially the AIS, its importance in ischemic stroke is still controversial. Our aim in this study is to investigate whether the serum UA level is an indicative biomarker in the large-artery atherosclerosis in the AIS etiology. Material and method - Of the patients admitted to Sakarya University Training and Research Hospital Depart-ment of Neurology between January 2017 and November 2017, 91 hospitalized patients, who had AIS diagnosis and had their uric acid levels measured, were analyzed retrospectively. Patients with diabetes mellitus (DM), hypertension (HT), smoking habit, obesity, gout, hyperlipidemia (HL) and renal failure were excluded from the study. Patients were classified as anterior system and posterior system infarct. Then, patients were divided into two groups, one with internal carotid artery (ICA) > 50% stenosis and the other with ICA < 50% stenosis according to carotid-vertebral artery doppler USG examination performed for etiology. Serum UA, total bilirubin, direct bilirubin and indirect bilirubin levels of both groups were statistically compared. Results - In the comparison of serum UA values of ICA>50% stenosis and ICA<50% stenosis group of AIS patients, a statistically significant difference was found between the UA levels (p<0.000), but there was no difference between total bilirubin, direct bilirubin and indirect bilirubin values (p>0.05). Conclusion - High uric acid levels can be considered an independent, indicative risk factor for large-artery disease in AIS.

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