Clinical Neuroscience

[Congenital myasthenic syndromes and transient myasthenia gravis]

GAJDA Anna, SZABÓ Hajnalka, GERGEV Gyurgyinka, KARCAGI Veronika, SZABÓ Nóra, ENDREFFY Emőke, TÚRI Sándor, SZTRIHA László

MAY 30, 2013

Clinical Neuroscience - 2013;66(05-06)

[Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.]



Further articles in this publication

Clinical Neuroscience

[Neurorehabilitation, neurology, rehabilitation medicine]

URBÁN Edina, SZÉL István, FÁY Veronika, DÉNES Zoltán, LIPPAI Zoltán, FAZEKAS Gábor

[We have read several publications of great authority on the neurological profession in the last two years in which were expressed assessments of the current situation combined with opinions about neurology and the necessity to reorganize neurological patient care. These articles took up the question of neurorehabilitation too. The authors, who on a daily basis, deal with the rehabilitation of people with disabilities as a consequence of neurological conditions, summarize some important definitions of rehabilitation medicine and the present system of neurological rehabilitation, as it is defined by the rehabilitation profession.]

Clinical Neuroscience

[Targeted nanomedicine in diagnostics and therapy of neurological diseases]

FODOR Bertalan, BARKAI László, VALIKOVICS Attila

[The incidence of neurological diseases increases. The up to date diagnostics and therapeutics approaches require the cost-effective and personalized solutions. The nanomedicine now, - and likely more in the future - opens a new horizon in the treatment of neurological diseases. The nano-size materials have several advantages that make it their use as drug delivery systems, and imaging agent. Very important aspect is that these materials can transfer across the bloodbrain barrier. The functionalization and surface modification of nanomaterials enhances this effect. The authors summarize of neurological application of nanoparticles according to the current data. They provide an overview about the most common used nanomedical materials, targeted drug delivery mechanisms and nano-imaging opportunities.]

Clinical Neuroscience

[Effective, safe stroke prevention with novel oral anticoagulants in patients with atrial fibrillation. Focus on dabigatran]

SZAPÁRY László, FEHÉR Gergely, BOSNYÁK Edit, DELI Gabriella, CSÉCSEI Péter

[Non-valvular AF is the most common cardiac arrhytmia. Its incidence increases with age. AF is an independent risk factor for ischaemic stroke, representing a five times higher risk for it, associated with a high mortality rate. Beside AF, there are several other risk factors which influence the risk of stroke. Stroke risk calculator can be used to assess the risk of patient having a stroke. The most endangered group of patients with AF are those who have already suffered from cerebrovascular event. The only effective medication for prevention of stroke due to AF had been the application of vitamin K antagonists (VKA) which considerably decrease the rate of ischaemic event in a patient with AF providing that the INR is in the therapeutic range. VKA have several limitations of use in clinical practice and the fear of bleeding complications results an underusing of these drugs. Only 50% of all patients treated with VKA reaches the therapeutic range of INR. The breakthrough of prevention of stroke in recent years is undisputedly the coming out of novel oral anticoagulants (NOACs, thrombin and Xa-factor inhibitors). Recent studies suggest that these novel drugs prove the same efficacy as VKA drugs, furthermore dabigatran in a dose of 2×150 mg or apixaban in 2×5mg was statistically superior to warfarin in the prevention of stroke. NOACs have shown a large reduction in intracranial hemorrhage compared with warfarin. They are given as a fixed dose and do not require persistent monitoring making them much more convenient. NOACs at guidelines of European Society of Cardiology act as a preferable drugs in case of ischaemic stroke with AF. Probably the extended use of NOACs in clinical practice will be the mainstream of stroke prevention in the future.]

Clinical Neuroscience

[Spectral, phase-synchronization, and graph theoretical EEG changes related to mental arithmetics]

BOHA Roland, TÓTH Brigitta, GAÁL Zsófia Anna, KARDOS Zsófia, FILE Bálint, MOLNÁR Márk

[During mental arithmetic operations working memory playsan important role, but there are only few studies in which anattempt was made to separate this effect from the process ofarithmetics per se. In this study the effects of arithmetic onthe EEG of young adults (14 participants, six of themwomen, mean age 21.57 years, SD: 2.62) was investigatedduring a subtraction task in the θ(4-8 Hz) frequency band.Besides the power density spectrum analysis phasesynchrony based on recently developed graph theoreticalmethods were used and strength of local connections (clustercoefficient; C) and global interconnectedness of network(characteristic path length; L) were determined. Before thearithmetic task passive viewing (control situation) and anumber recognition paradigms were used. During the arith-metic task compared to the control situation significantlyincreasing phase synchrony and C values were found. L wassignificantly shorter (F(2, 26)=818.77, p<0.0001) only dur-ing the arithmetic task: this fact and the former two resultsimply that the network topology shifted towards the “smallworld” direction. Our findings concerning regionaldifferences confirm those reported earlier in the literature:compared to the control condition significant task-relatedincrease was found in C values in the parietal areas [moreexplicitly in the left side, (F(1, 13)=7.2020, p=0.0188)],which probably corresponds to stronger local connectionsand more synchronized (sub)networks. During the task con-dition significantly increased θband power; (F(1,13)=7.9708, p=0.0144) and decreased L values werefound in the left frontal region compared to the right side(F(1, 13)=6.0734, p=0.0284), which can also be interpret-ed as an indicator of optimized network topology ofinformation processing.]

Clinical Neuroscience

[Possibilities of gene therapy with recombinant adenovirus in the cortex and hippocampus]

KOSKA Péter, VALIKOVICS Attila, KISS-TÓTH Éva, SZALAI Adrienn, NAGY Zoltán, FODOR Bertalan

[Background and purpose - Neurodegenerative diseases eg. ischemic stroke causes lifelong disabilities in cognitive functions and movement, furthermore high frequency of death. Antiapoptotic, or growth factor gene targeting to cortical structures could be a useful tool for neuroprotection in ischemic brain diseases. In present study we examined the feasibility of the gene therapy of the cortex and hippocampus via transfecting brain with recombinant adenovirus containing LacZ reporter gene in normal and postischemic condition. Since translation of proteins can be inhibited following ischemia by the phosphorylation of ribosomal subunit eIF2α, phosphor-eIF2α immunohystochemistry were performed. Methods - Our adenovirus vector was introduced via the cisterna magna into control and postischemic gerbil brain. After 48 hours of transfection the brains were examined for X-gal staining. LacZ expressing cells showed blue colour. Five min. transient global ischemia was induced by clipping the vertebral and carotid arteries of gerbil. Phosphor-eIF2α immunohystochemistry were performed following 48 hours of ischemia. Results - Administration of adenoviral vector resulted in transfection of hippocampal CA1, CA2, CA3 cell layers while gyrus dentatus remained untransfected. Cortical pyramidal cell layers were also transfected. In postischemic brain the lack of LacZ gene expression were detected in the CA1 and CA2 layer of hippocampus. Ischemia caused eIF2α phosphorylation in hippocampal CA1, CA2, CA3 and most neuronal layers in the cortex. Conclusion - Introducing adenovirus vector via the cisterna magna may results in effective gene therapy of cortex and hippocampus. To develop effective gene therapy in postischemic hippocampal CA1 and CA2 cell layers needs further investigation. eIF2α phosphorylation probably doesn’t interfere with transgene expression.]

All articles in the issue

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Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

Hypertension and nephrology

[About the care of patients with hyperuricaemia and gout]

[This consensus document is intended to provide guidance for the effective and efficient treatment of asymptomatic individuals with high uric acid levels and gout patients.]

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

Clinical Neuroscience

[The role of sleep in the relational memory processes ]

CSÁBI Eszter, ZÁMBÓ Ágnes, PROKECZ Lídia

[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]