Clinical Neuroscience

[Treatment of dystonia by deep brain stimulation: a summary of 40 cases]

DELI Gabriella, BALÁS István, KOMOLY Sámuel, DÓCZI Tamás, JANSZKY József, ILLÉS Zsolt, ASCHERMANN Zsuzsanna, TASNÁDI Emese, NAGY Ferenc, PFUND Zoltán, BÓNÉ Beáta, BOSNYÁK Edit, KULIFFAY Zsolt, SZIJJÁRTÓ Gábo

JULY 30, 2012

Clinical Neuroscience - 2012;65(07-08)

[Background - Bilateral pallidal deep brain stimulation (DBS) is an established treatment option for primary generalized and segmental dystonia. In the present study we evaluated the results of our dystonia patients treated by DBS. Methods - The surgical results of forty consecutive dystonia patients underwent DBS implantation were analyzed (age: 43.7±17.7 years; sex: 22 men; etiology: 24 primary and 16 secondary dystonia; topography: 24 generalized, 12 segmental and four hemidystonia; disease duration: 16.1±9.3 years). Severity of dystonia measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and health-related quality of life measured by EQ-5D scale were obtained preoperatively and compared to the scores obtained at postoperative six months and subsequent yearly follow-ups. The average follow-up lasted 2.5 years (median, 0.5-8 years). In all cases the BFMDRS scores were re-evaluated by a rater blinded to the treatment. Treatment responsiveness was defined as an at least 25% improvement on the BFMDRS scores. Non-parametric Mann-Whitney, McNemar and Kruskal-Wallis tests were applied to test statistical significance. Results - Severity of dystonia improved from 31 to 10 points (median, 68% improvement, p<0.01) in the primary dystonia group, whereas in secondary dystonia these changes were statistically insignificant (improvement from 40 to 31.5 points, 21.2%, p>0.05). However, the health-related quality of life significantly improved in both groups (primary dystonia: 0.378 vs. 0.788 and secondary dystonia: 0.110 vs. 0.388, p<0.01). Significantly more patients in the primary dystonia group responded to DBS treatment than those in the secondary dystonia group (83.3% vs. 37.5%, p<0.01). Conclusion - Our results are in accordance with previously published international findings demonstrating that DBS is a highly effective and long-lasting treatment option for primary dystonia. DBS is considerably less efficient in secondary dystonia; however, it still has a high impact on the quality of life presumably due to its pain-relieving effect.]

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[Epilepsy is treatable Medical, psychological, social-legal aspects Péter Halász, Judit Békés]

GYÖRGY Ilona

Clinical Neuroscience

[Editorial message]

TAJTI János, RAJNA Péter

[Editorial message 2012;65(07-08)]

Clinical Neuroscience

[Neurophobia]

SZIRMAI Imre

[Neurophobia is the fear of neurological diseases. Its main symptom is that medical students and young doctors are not able to utilize their basic neurological knowledge at the bedside. According to statistics, every second student suffers from neurophobia. This attitude could explain why in the last two decades less and less young doctors wanted to become neurologist. Medical students complain that they receive no instructions, and are afraid of loosing their interest and of facing the failure of their competency. The hardship of neurology was explained by the insufficient knowledge of anatomy and the infrequent encounter with patients. Even general practitioners have anxiety about neurological patients. The loss of interest in neurosciences seems to associate with insensitivity of human-centered culture and corruption of empathic thinking. The burnout syndrome of medical doctors and students can be explained by stress, loss of respect, permanent competition, independency that interferes with responsibility, stiff hierarchy of medical society, fear of diagnostic failures and of economical difficulties. The scores of depression in female students were higher than in male. The idea of the “good neurologist” has been changed. The business oriented care, the shortage of time, and the financial restrictions corroded the conventional practice and ceased the vocational idealism. At present, personal teaching is going to transform into impersonal multimedia learning. Because of the drastic change of values, the age of inner-oriented professionals has terminated also in the medicine. Medical doctors follow even less the traditional troll of professional behavior, but according the social demands, they choose their specialization for subsistence. The highly esteemed social status of neurologists and psychiatrists is going to sink in Europe. To reduce neurophobia it would be desirable 1. to introduce neurology training in the early years of medical school; 2. to teach neurology in all semesters, 3. to assure the effective teaching of neuro-anatomy and physiology, 4. to organize more one-to-one teacher-student communication. In the United States, residents participate in teaching during their residency training. To master neurology dedicated teachers are necessary whom neurology residents ought to meet personally with optimal frequency. However, these requirements seem to fail because of the chiefly technical characters of the actual reforms.]

Clinical Neuroscience

[Diagnosis and therapy of mitochondrial diseases]

PÁL Endre

[Mitochondrial diseases are a significant part of neuromuscular diseases. Majority of them is multisystemic disorder. The diagnosis can be established in more and more cases. Beyond the routine neurological examination imaging methods (MRI and MR-spectroscopy) and electrophysiology (EMG, ENG, EEG, evoked potential tests) might be helpful in setting the diagnosis. Raised blood lactate level supports the diagnosis. Muscle biopsy demonstrates mitochondrial abnormalities in the majority of cases. The positivity of genetic tests is low, because the amount of mitochondrial DNA alterations is different in tissues. Therefore other tissue than blood (mainly muscle) is necessary for genetic tests. The other reason is that the respiratory chain is under double -mitochondrial and nuclear - genetic control, and testing the nuclear genes are available only in selected laboratories. The treatment is limited, mainly symptomatic.]

Clinical Neuroscience

[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon’s disease patients]

BALICZA Péter, BEREZNAI Benjámin, TAKÁTS Annamária, KLIVÉNYI Péter, DIBÓ György, HIDASI Eszter, BALOGH István, MOLNÁR Mária Judit

[Parkinson’s disease is a promising target of applying personalized medicine. For this purpose it is crucial to reveal the genetic and environmental factors, which contribute to the disease, also to collect epidemiologic data and to preserve the patients samples and data in a proper biobank. In our investigation we examined the prevalence of the most frequent Parkinson’s disease causing LRRK2 G2019S mutation in a Hungarian Parkinson-patient group. From 120 patients, we haven’t detected this substitution in anyone. Our investigation suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.]

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[The Effect of Asthma Bronchiale on Everyday life Activities Among Adolescents]

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[The aim of this study is to assess the relationship between the physical activity of asthmatics, sleep disorders, the extent of asthma treatment, and to assess the quality of life in terms of physical activity. We conducted our quantitative, cross-sectional survey between 2020-2021. In a non-randomized, comfort sampling the target group was defined as adolescents aged between 14–18 years, their diagnosis of asthma bronchiale had to be for at least 1 year ago. The data were collected by a self-prepared questionnaire, the domains included: socio-demographic questions related to physical activites, symptoms, sleep disorders, severity of asthma. We used miniAQLQ to assess quality of life. The statistical analysis were performed by using Microsoft Excel 2016 and SPSS v 24 programs. Descriptive statistics (mean, standard deviation, minimum, maximum), two-sample t-test, Chi-square test were performed. The mean age of the respondents was 16±1.51, 38% were boys and 62% were girls (N=105). There was no significant difference between physical activity and the frequency of seizures and sleep disorders (p>0.05). There is a significant difference between the genders and the symptoms increasing with intense exercise (p=0.02). We found significant correlation between the active participations in physical education classes and the severity of the disease (p=0.021). There is a significant correlation between moderate-, social activities and physical activity (p<0.05). Appropriate health education, recommendation in career choices as well as in physical activities done by nurses may lead to decrease in the number of suffocation attacks in cases of adolescents suffering from asthma bronchiale.]

Clinical Neuroscience

Management of bone metabolism in epilepsy

UÇAN TOKUÇ Ezgi Firdevs , FATMA Genç, ABIDIN Erdal, YASEMIN Biçer Gömceli

Many systemic problems arise due to the side effects of antiepileptic drugs (AEDs) used in epilepsy patients. Among these adverse effects are low bone mineral density and increased fracture risk due to long-term AED use. Although various studies have supported this association with increased risk in recent years, the length of this process has not been precisely defined and there is no clear consensus on bone density scanning, intervals of screening, and the subject of calcium and vitamin D supplementation. In this study, in accordance with the most current recommendations, our applications and data, including the detection of possible bone mineralization disorders, treatment methods, and recommendations to prevent bone mineralization disorders, were evaluated in epilepsy patients who were followed up at our outpatient clinic. It was aimed to draw attention to the significance of management of bone metabolism carried out with appropriate protocols. Epilepsy patients were followed up at the Antalya Training and Research Hospital Department of Neurology, Epilepsy Outpatient Clinic who were at high risk for osteoporosis (use of valproic acid [VPA] and enzyme-inducing drugs, using any AED for over 5 years, and postmenopausal women) and were evaluated using a screening protocol. According to this protocol, a total of 190 patients suspected of osteoporosis risk were retrospectively evaluated. Four patients were excluded from the study due to secondary osteoporosis. Of the 186 patients who were included in the study, 97 (52.2%) were women and 89 (47.8%) were men. Prevalence of low bone mineral density (BMD) was 42%, in which osteoporosis was detected in 11.8% and osteopenia in 30.6% of the patients. Osteoporosis rate was higher at the young age group (18-45) and this difference was statistically significant (p=0.018). There was no significant difference between male and female sexes according to osteoporosis and osteopenia rates. Patients receiving polytherapy had higher osteoporosis rate and lower BMD compared to patients receiving monotherapy. Comparison of separate drug groups according to osteoporosis rate revealed that osteoporosis rate was highest in patient groups using VPA+ carbamazepine (CBZ) (29.4%) and VPA polytherapy (19.4%). Total of osteopenia and osteoporosis, or low BMD, was highest in VPA polytherapy (VPA+ non-enzyme-inducing AED [NEID]) and CBZ polytherapy (CBZ+NEID) groups, with rates of 58.3% and 55.1%, respectively. In addition, there was no significant difference between drug groups according to bone metabolism markers, vitamin D levels, and osteopenia-osteoporosis rates. Assuming bone health will be affected at an early age in epilepsy patients, providing lifestyle and diet recommendations, avoiding polytherapy including VPA and CBZ when possible, and evaluating bone metabolism at regular intervals are actions that should be applied in routine practice.

Clinical Neuroscience

Effects of valproate, carbamazepine and levetiracetam on Tp-e interval, Tp-e/QT and Tp-e/QTc ratio

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Aim - To evaluate P-wave dispersion before and after antiepileptic drug (AED) treatment as well as to investigate the risk of ventricular repolarization using the Tpeak-Tend (Tp-e) interval and Tp-e/QT ratio in patients with epileptic disorder. Methods - A total of 63 patients receiving AED therapy and 35 healthy adults were included. ECG recordings were obtained before and 3 months after anti-epileptic treatment among patients with epilepsy. For both groups, Tp-e and Tp-e/QT ratio were measured using a 12-lead ECG device. Results - Tp-e interval, Tpe/QT and Tp-e/QTc ratios were found to be higher in the patient group than in the control group (p<0.05, for all), while QTmax ratio was significantly lower in the patient group. After 3 months of AED therapy, significant increases in QT max, QTc max, QTcd, Tp-e, Tp-e/QT, and Tp-e/QTc were found among the patients (p<0.05). When the arrhythmic effects of the drugs before and after treatment were compared, especially in the valproic acid group, there were significant increases in Tp-e interval, Tp-e/QT and Tp-e/QTc values after three months of treatment (p<0.05). Carbamazepine and levetiracetam groups were not statistically significant in terms of pre- and post-treatment values. Conclusions - It was concluded that an arrhythmogenic environment may be associated with the disease, and patients who received AED monotherapy may need to be followed up more closely for arrhythmia.

Clinical Neuroscience

[Disease burden of Duchenne muscular dystrophy patients and their caregivers]

PÉNTEK Márta, HERCZEGFALVI Ágnes, MOLNÁR Mária Judit, SZŐNYI László Pál, KOSZTOLÁNYI György, PFLIEGLER György, MELEGH Béla, BONCZ Imre, BRODSZKY Valentin, BAJI Petra, SZEGEDI Márta, POGÁNY Gábor, GULÁCSI László

[Background and purpose - Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients’ and their caregivers’ health related quality of life and healthcare utilisations. Methods - A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients’ informal carers were surveyed. Results - One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). Conclusion - Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.]