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Clinical Neuroscience

NOVEMBER 30, 2020

[New results of neuroscience research – the background of symptomatological and etiological diversity of mental disorders]

OSVÁTH Péter

[Nowadays, the focus of genetic, neurobiological, neuropsychological and psychosocial research is on a more accurate discovery of the etiology of mental illnesses, especially with regard to the role and complex interactions of certain risk factors. It is increasingly challenging to interpret the results of different aspects and methodologies in a coherent theoretical framework, as this can only lead to a more accurate understanding of the complexity and mechanism of the psychiatric disorders. The main aim of this paper to overview recent studies on etiological background of mental disorders and to present the most important aspects of the Research Domain Criteria (RDoC) system. Review of reports from comprehensive studies published in the most important psychiatric journals over the past five years summarizing new findings on the etio­logy of mental disorders. Although current classifications indicate that mental disorders are strictly distinct diagnostic categories, new findings suggest that these marked differences in symptomatic, genetic, and neurobiological backgrounds are not detectable, as many mental disorders have been identified as having common molecular genetic risk factors, which may indicate common neurobiological pathomechanisms. Research results support the need for a rethinking of psychiatric nosology on an etiological basis and represent an important step forward in the more accurate exploration of the neurobiological background factors of mental disorders and thus in the development of more targeted therapeutic approaches. The development of the RDoC system can be a great help in this, as this dimensional approach offers the possibility of integrating the - often diffuse or even contradictory - neuroscientific research findings into a unified theoretical framework for the etiology, nosology and treatment of mental disorders. ]

Clinical Neuroscience

NOVEMBER 30, 2020

[The Comprehensive Aphasia Test in Hungarian]

ZAKARIÁS Lilla, RÓZSA Sándor, LUKÁCS Ágnes

[In this paper we present the Comprehensive Aphasia Test-Hungarian (CAT-H; Zakariás and Lukács, in preparation), an assessment tool newly adapted to Hungarian, currently under standardisation. The test is suitable for the assessment of an acquired language disorder, post-stroke aphasia. The aims of this paper are to present 1) the main characteristics of the test, its areas of application, and the process of the Hungarian adaptation and standardisation, 2) the first results from a sample of Hungarian people with aphasia and healthy controls. Ninety-nine people with aphasia, mostly with unilateral, left hemisphere stroke, and 19 neurologically intact control participants were administered the CAT-H. In addition, we developed a questionnaire assessing demographic and clinical information. The CAT-H consists of two parts, a Cognitive Screening Test and a Language Test. People with aphasia performed significantly worse than the control group in all language and almost all cognitive subtests of the CAT-H. Consistent with our expectations, the control group performed close to ceiling in all subtests, whereas people with aphasia exhibited great individual variability both in the language and the cognitive subtests. In addition, we found that age, time post-onset, and type of stroke were associated with cognitive and linguistic abilities measured by the CAT-H. Our results and our experiences clearly show that the CAT-H provides a comprehensive profile of a person’s impaired and intact language abilities and can be used to monitor language recovery as well as to screen for basic cognitive deficits in aphasia. We hope that the CAT-H will be a unique resource for rehabilitation professionals and aphasia researchers in aphasia assessment and diagnostics in Hungary. ]

Clinical Neuroscience

JULY 30, 2020

[Recurrent inhibition during Jendrassik maneuver]

LUKÁCS Miklós

[Objective – Conflicting theoretical models exist regarding the mechanism related to the ability of the Jendrassik maneuver to reinforce reflex parameters. Our objective was to investigate if vigorous handgrip would induce changes in recurrent inhibition of soleus motoneurons. Method – Soleus H reflex was evoked by stimulating the tibial nerve at rest and during bilateral vigorous handgrip, alternating single (H1) and paired stimulation (H2). At paired stimulation we used interstimulus intervals of 10, 15, 20 and 25 ms and supramaximal test stimulus. H1- and H2-wave amplitudes were expressed as percentage of maximal M-wave amplitude. Conditioned H2 wave maximal (H2max) and minimal (H2) amplitudes evoked at rest and expressed as a percentage of the unconditioned H1max amplitude were compared with the corresponding values obtained during handgrip by means of paired Student test and Bonferroni correction. Subjects – At the study participated 28 healthy volunteers. Results – The H1max/Mmax × 100 values obtained during handgrip (37.5±10.1) were significantly higher than those obtained at rest (27.1±7.4). The H2max/H1max × 100-va­lues obtained at paired stimulation were significantly higher during handgrip than at rest, while no significant diffe­rence was found between the H2/H1max × 100-values obtained during handgrip and at rest respectively. Discussion – The H2max/H1max is determined by both the excitability of the motoneurons and the recurrent inhibition elicited by the conditioning stimulus, while H2/H1max indicates only the level of recurrent inhibition. According to our results the Renshaw cells retain their inhibitory effect on the soleus alpha motoneurons during remote muscle contraction. Conclusion – Soleus H reflex enhancement during Jendrassik maneuver is not due to decrease of recurrent inhibition. ]

Clinical Neuroscience

JULY 30, 2020

[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

MAY 30, 2020

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]