Clinical Neuroscience

[Molecular pathology of meningiomas]


SEPTEMBER 30, 2015

Clinical Neuroscience - 2015;68(09-10)


[Meningiomas represent nearly one-third of all adult primary brain tumours. According to their clinical and histologic appearance, they can be divided into WHO grades I-III. Almost 90% of meningiomas are benign, showing favourable response to conventional therapies, however, patients diagnosed with grade 2 and 3 tumours may have a poor prognosis. In addition, high frequency of tumour recurrence renders treatments more challenging even in benign meningiomas. Molecular-pathological profiling of meningiomas could lead to development of more effective therapies. Although the cytogenetic background of these tumours are already wellcharacterised, the majority of related genes and mutations is still unknown. Recently, high-throughput techniques enabled better characterisation of mechanisms involved in meningioma development, progression and recurrence. Furthermore, epigenetic dysregulation could offer new opportunities for both diagnosis and treatment of meningiomas. We provide a comprehensive overview of cytogenetic and molecular genetic defects as well as epigenetic alterations in meningiomas. Many of these may serve as biomarker or therapeutic target in the near future.]



Further articles in this publication

Clinical Neuroscience

[High prevalence of burnout and depression may increase the incidence of comorbidities among Hungarian nurses]

ÁDÁM Szilvia, CSERHÁTI Zoltán, MÉSZÁROS Veronika

[Background and purpose - Poor mental health among health care professionals may have a significant impact on public health. There is limited information about the prevalence and potential consequences of burnout and depression among nurses in Hungary. The objective of this study is to explore the relationship between burnout as well as depression and somatic symptoms as well as comorbidities among nurses in Hungary. Methods - Cross-sectional study with self-administered questionnaires among 1,713 nurses. Burnout and depression were assessed by the Maslach Burnout Inventory (MBIHSS) and the Shortened Beck Depression Questionnaire, respectively. Somatisation was measured by the Patient Health Questionnaire (PHQ-15). Correlates of burnout and depression were assessed by logistic and linear regression analyses. Results - The prevalence of depressive symptom and clinical depression was 35% and 13%, respectively. The prevalence of moderate and high level emotional exhaustion, depersonalisation, and decreased personal accomplishment was 44%, 36% and 74%, respectively. We identified burnout and depression as a predictor of high prevalence of subjective somatisation. Whilst burnout showed a strong association with increased prevalence of hypertension, depression predicted almost all examined diseases, in particular, cardiac and cerebrovascular diseases, as well as neoplasms. Conclusion - We found high prevalence of burnout and depression among nurses in Hungary. As depression has been shown to be associated with higher prevalence of comorbidities than burnout, its consequences may be more significant. Appropriate prevention, diagnosis, and adequate treatment of burnout and depression may decrease the prevalence of ensuing comorbidities.]

Clinical Neuroscience

Turkish version Quality of Life in Essential Tremor Questionnaire (QUEST): Validity and reliability study

GULER Sibel, TURAN F. Nesrin

Background - Our aim was to translate the Quality of Life in Essential Tremor Questionnaire (QUEST) advanced by Troster (2005) and to analyse the validity and reliability of this questionnaire. Methods - Two hundred twelve consecutive patients with essential tremor (ET) and forty-three control subjects were included in the study. Permission for the translation and validation of the QUEST scale was obtained. The translation was performed according to the guidelines provided by the publisher. After the translation, the final version of the scale was administered to both groups to determine its reliability and validity. Results - The QUEST Physical, Psychosocial, communication, Hobbies/leisure and Work/finance scores were 0.967, 0.968, 0.933, 0.964 and 0.925, respectively. There were good correlations between each of the QUEST scores that were indicative of good internal consistency. Additionally, we observed that all of the QUEST scores were most strongly related to the right and left arms (p=0.0001). However, we observed that all of the QUEST scores were weakly related to the voice, head and right leg (p=0.0001). Discussion - These findings support the notion that the Turkish version of the Quality of Life in Essential Tremor (QUEST) questionnaire is a valid and reliable tool for the assessment of the quality of life of patients with ET.

Clinical Neuroscience

Anxiety management and functional magnetic resonance imaging - should it be a priority?

VANDULEK Csaba, DONKÓ Tamás, ILLÉS Anikó, EMRI Miklós, OPPOSITS Gábor, REPA Imre, KOVÁCS Árpád

Background and purpose - Studies have shown that a high proportion of patients undergoing MRI examinations experience anxiety and distress which may compromise image quality and successful data acquisition. Research on fMRI related anxiety is limited as to date, therefore, the purpose of this study was to assess the changes in anxiety as well as to examine its interactions with the implementation of a dedicated patient preparation phase prior to the examination. Methods - An fMRI examination consisting of six paradigms was performed on nine female and nine male healthy volunteers. Prior to the examination, the volunteers were subject to an extensive patient preparation phase including the professional support of a psychologist. The volunteers were subject to the State Trait Anxiety Inventory (STAI) pre and post fMRI. Blood pressure and heart rate were also measured pre and post fMRI examination. Results - A high level of trait and state anxiety was observed (STAI-T: 41.67±8.96; STAI-S: 34.78±9.79) prior to the examination. The level of state anxiety decreased significantly following the examination (STAI-S: 28.83±4.99, p<0.01). Correlation between the volunteers level of anxiety prior to the fMRI scan and the volume of the activation areas was observed in the finger-tapping (r=0.656; 0.561) and word generation (r=0.471) paradigms. Conclusion - The results of this study support the contribution of a supportive patient preparation phase inclusive of professional guidance to help reduce the volunteers’ level of distress and anxiety. These results encourage the study to be extended to clinical patients.

Clinical Neuroscience

Quality of life of patients with non-diabetic peripheral neuropathic pain; results from a cross-sectional survey in general practices in Hungary


Background and purpose - There is a lack of data on the impact on health related quality of life of peripheral neuropathic pain in Hungary. The main aims of the study were to assess the health related quality of life of nondiabetic PeNP patients identified in general practices through screening, and to assess the relationship between condition specific pain scores and health state utilities. Methods - Non-diabetic patients aged ≥30 years were recruited in 10 general practices in Hungary. At first, patients filled in the PainDETECT Questionnaire (PD-Q) and those who have achieved ≥13 PD-Q score (unclear or possible neuropathic pain) were further assessed by the DN4 questionnaire. Patients with PD-Q score >18 or DN4 score ≥4 were considered to have PeNP and they completed the EQ-5D health questionnaire. Results - Among the 111 patients identified as non-diabetic PeNP patients the mean age was 62 (SD=14) years, 69% were women. Average EQ-5D score was 44% lower than the gender and age matched Hungarian norm (0.42 vs. 0.75, p<0.001) and it worsened with increasing pain intensity. The pain/discomfort and anxiety/depression were the most affected EQ-5D dimensions. Strong relationship was demonstrated between the PD-Q and EQ- 5D score. Most of the PeNP patients (86%) were undiagnosed. Conclusions - Non-diabetic PeNP pain has a huge negative impact on health related quality of life. Although PeNP is a serious chronic condition, the disease burden is seriously underestimated, both on the level of individuals and society, due to the fact that patients are rarely identified.

Clinical Neuroscience

Restless legs syndrome and insomnia frequency in patients with psoriasis

GULER Sibel, TEKATAS Aslan, ARICAN Özer, KAPLAN Sarı Özlem, DOGRU Yüce

Background - To assess the prevalence and severity of RLS in psoriasis patients and to investigate its effects on sleep and quality of life. Methods - Seventy patients with psoriasis in Trakya University Medical Faculty Dermatology Department and also applied to Neurology Department in the same center and 70 volunteer controls were enrolled in the study. Severity of the Restless Legs Syndrome (RLS) was determined using International Restless Legs Syndrome Study Group (IRLSSG) criteria among the patients who have been diagnosed with RLS based on IRLSSG criteria. The presence of insomnia in patients was detected using International Classification of Sleep Disorders (ICSD-II) criteria. Additionally, to evaluate the severity of the disease and quality of life, Psoriasis Area Severity Index (PASI) and Dermatology Life Quality Index (DLQI) tests were applied to the patients with psoriasis. Results - RLS frequency in patients with psoriasis was 28 (40%) compared to the control group 10 (14.2%), and the difference was statistically significant (p<0.001). IRLSSG severity scores were higher in patients with psoriasis who had insomnia secondary to RLS compared to those who did not have insomnia (p<0.001). The mean values of PASI were 7.54±6.52 in the presence of insomnia and 3.27±2.69 in the absence of insomnia. The difference was statistically significant (p<0.001). No significant difference was found in DLQI scores between patients with RLS and without RLS or between patients with and without insomnia (p>0.05). Discussions - RLS frequency in patients with psoriasis was significantly higher than in the control group. In addition, we found that RLS is more common but RLS severity was mildly high in patients with psoriasis relative to controls. However, there was a correlation between the increase in severity of RLS with secondary insomnia patients who were diagnosed with RLS. It may be beneficial to consider RLS and insomnia for each patient diagnosed with psoriasis.

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Secretory meningioma with bone infiltration and orbital spreading

KÁLOVITS Ferenc, TAKÁTS Lajos, SOMOGYI Katalin, GARZULY Ferenc, TOMPA Márton, KÁLMÁN Bernadette

Secretory meningioma is a rare form of meningiomas which differentiates from the meningothelial subtype. It is characterized by significant peritumor edema and distinct immunohistochemical and molecular genetic profiles. We present a middle aged female patient with secretory meningioma infiltrating the orbital bone from the primary cranial base location and causing exophthalmos, features rarely described with this tumor. Surgical resection was challenging because of the associated brain swelling and rich vascularization of the tumor. Imaging and immunohistochemical studies revealed characteristic hallmarks of secretory meningioma. While histologically it was a benign tumor, due to the orbital bone and soft tissue infiltration, postoperative management of neurological sequelae was challenging. This case highlights distinctive clinical, imaging and histological features along with individual characteristics of a rare form of meningiomas.

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[Targeted therapy: based upon the primary tumor or on its metastases?]

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[Most of the primary tumors at various stages are resected or destroied by radiotherapy. Meanwhile, contemporary target therapies are administered in advanced stages, but the required molecular pathologic analysis is performed on the primary tumor supposing stable genetic profi ls durings at different stages of cancer progression. Advanced molecular technologies provided high resolution images on the clonal heterogeneity of the primary tumors and its role in cancer progression. Data indicate that in early and locoregional stages/recurrences the chance for genetic discordance is low while, in late visceral metastases this risk is increasingly higher. The clinical relevance of the genetically discordant metastatic tumors is proven by several retrospective studies. This is the basis of the recommendations that in case of progressing cancer molecular pathologic tests must be performed on metastatic tumors, especially when the primary tumor is resected. On the other hand, it is an unresolved issue what to do in case of discordance between the primary and the metastasis.]

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.]

Clinical Neuroscience

[Genetics and present therapy options in Parkinson’s disease: a review]

BEREZNAI Benjámin, MOLNÁR Mária Judit

[In the past years, six monogenic forms of Parkinson disease have clearly been associated with this movement disorder. The most frequent forms are LRRK2- and Parkin-associated Parkinson disease. Currently, a genetic diagnosis does not change the therapy, the genes involved in genetic Parkinson disease help to understand the underlying pathophysiologic mechanisms of Parkinson disease. Beside the overview of the molecular-genetic basis, we give a review about genetic testing, pharmacological and other multidisciplinary treatment options.]

Clinical Neuroscience

[Genetic background of epilepsies]


[In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.]