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Clinical Neuroscience

JULY 30, 2016

[Meningioma and pregnancy]

BENCZE János, VARKOLY Gréta, HORTOBÁGYI Tibor

[Meningiomas are one of the most frequent primary intracranial tumours, representing one-third of all intracranialneoplasms. The vast majority of meningiomas are histologically benign, but recurrence and progression is quite frequent. They occur usually between the 6th and 7th decade, the female/male ratio is 3:2. Although rare in pregnancy, when occurring, they can cause serious, life-threatening complications due to rapid growth and unfavourable localisation. There are two dominant hypothesis explaining rapid growth in pregnancy: the role of hormonal effects and hemodynamic changes. Several studies tested these theories but none provided unequivocal answer probably because the pathomechanism is complex and multifactorial. We provide an overview of the pathomechanism of meningiomas in pregnancy with emphasis on data obtained by advanced neuropathological, molecular biological, bioinformatic, imaging and epidemiological methods. A better understanding of the processes leading to meningioma development and growth in pregnancy will help us to design personalized therapy and reduce morbidity and mortality.]

Clinical Neuroscience

JULY 30, 2016

[Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)]

CSILLIK Anita, POZSONYI Zoltán, SOÓS Krisztina, BALOGH István, BODÓ Imre, ARÁNYI Zsuzsanna

[Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if left untreated. The disease is underdiagnosed, the late onset forms (above the age of 50) being probably more widespread than previously thought. Early diagnosis is essential as the early introduction of causal therapy (tafamidis) slows progression and prolongs survival. Patients - We report here three non-related Hungarian cases of transthyretin familial amyloid polyneuropathy with non- Val30Met mutations (His88Arg in two cases, Phe33Leu in one case). They were all characterized by late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy and the simultaneous presentation of severe restrictive cardiomyopathy. In all three cases, clinical and electrophysiological signs of myopathy were also present, suggesting the involvement of skeletal muscles as well. In two cases, high resolution ultrasound of the peripheral nerves was also performed, which showed segmental structural alterations (change or loss of fascicular structure) and some increase of echogenicity of the interfascicular epineurium, without substantial enlargement of the nerves. Conclusion - In Hungary, mainly the rare, non-Val30Met mutation forms of transthyretin familial amyloid polyneuropathy are encountered, as in our cases. As opposed to the Val30Met forms, these mutations are characterized by late onset and simultaneous presentation of severe cardiomyopathy. Our report highlights the importance of considering transthyretin familial amyloid polyneuropathy in the differential diagnosis of late-onset, progressive, axonal polyneuropathies of unknown etiology, particularly if associated with cardiac disease.]

Hypertension and nephrology

JUNE 20, 2016

[Sclerosis tuberculosa. Newer aspects of therapy and care]

REUSZ György, DEÁK-PÁL Ákos, REMPORT Ádám

[Tuberous sclerosis (TSC) is an autosomal dominant disease characterized by the development of hamartomas in various organs with variable frequency. The major organs involved are the skin (70%), the brain (75%), the heart (50%) and the kidney (80%). Life threatening acute and chronic events are due initially to cardiac involvement, later neurologic complications and after the second and third decade nephrological and pulmonological involvement may predominate. Skin and osteo - skeletal disease may lead to disfiguring appearance causing additional psychological burden to the patient. Uninhibited activation of the mTOR signaling pathway is at the center of the disease process. The discovery of the pathomechanism established the base of the up-to-date medical therapy presenting a real alternative to the classical supportive and surgical treatment. Due to the progressive nature of the disease early recognition, best standard care and treatment according to the disease stage is of crucial importance. Optimal therapy is based on internationally recognized guide-lines and should be controlled through specialized, multidisciplinary centers.]

Clinical Neuroscience

MAY 30, 2016

[Analysis of mental arithmetic task by the “minimum spanning tree” method]

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

[Goals - In the present study basic arithmetic induced rearrangements in functional connections of the brain were investigated by using graph theoretical analysis what becomes increasingly important both in theoretical neuroscience and also in clinical investigations. Research questions - During mental arithmetic operations (working) memory plays an important role, but there are only a few studies in which an attempt was made to separate this effect from the process of arithmetic operations themselves. The goal of our study was to separate the neural networks involved in cognitive functions. Methods - As an attempt to clarify this issue the graph-theoretical “minimal spanning tree” method was used for the analysis of EEG recorded during task performance. The effects of passive viewing, number recognition and mental arithmetic on PLI based minimal spanning trees (MST) were investigated on the EEG in young adults (adding task: 17 subjects; passive viewing and number recognition: 16 subjects) in the θ (4-8 Hz) frequency band. Results - Occipital task relevant synchronization was found by using the different methods, probably related to the effect of visual stimulation. With respect to diameter, eccentricity and fraction of leafs different task-related changes were found. Discussion - It was shown that the task related changes of various graph indices are capable to identify networks behind the various relevant dominant functions. Thus the “minimal spanning tree” method is suitable for the analysis of the reorganization of the brain with respect to cognitive functions.]

Clinical Neuroscience

NOVEMBER 28, 2014

[The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation]

REMÉNYI Viktória, INCZÉDY-FARKAS Gabriella, GÁL Anikó, BEREZNAI Benjámin, PÁL Zsuzsanna, KARCAGI Veronika, MECHLER Ferenc, MOLNÁR Mária Judit

[Background - Mutations of both the PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PMP22 gene, results in hereditary neuropathy with liability to pressure palsies. More publications exist about the interaction of PMP22 duplication and other CMTcausing gene mutations. In these cases the intrafamiliar discordant phenotypes draw the attention to the possible role of modifying genes. The gene-gene interactions between the PMP22 and EGR2 genes are not well understood. Case report - We report two brothers with late onset CMT1 due to a c. 1142 G>A (Arg381His) heterozygous substitution in the EGR2 gene. Additionally, the older brother with the less severe symptoms harbored the PMP22 gene deletion also. Conclusion - The coexistence of the two genetic alterations did not aggravate the clinical symptoms. Moreover, the PMP22 deletion appeared to have a beneficial modifying effect, thus implying potential gene-gene interaction of PMP22 and EGR2. PMP22 deletion may increase Schwann cells proliferation and compensate the dominant-negative effect of the Arg381His substitution in the EGR2 gene.]

Hypertension and nephrology

SEPTEMBER 20, 2014

[Changes in prescribing practice of diuretics in the treatment of hypertension between 2007 and 2013 in the mirror of insurance data]

BARNA István, GYURCSÁNYI András

[Amongst diuretics, thiazides are the most commonly used antihypertensive agents. Due to their long-term effect, they are ideal for treatment of hypertension. Indapamide is a long-acting (half-life 14-16 hours) thiazide-like diuretic, which is effective in very small doses (1.25 to 5 mg). Indapamide mainly provides a forceful blood pressure lowering effect, by decreasing arteriolar and peripheral resistance due to its vasodilatative effect. Even in hypertensive, diabetic patients, indapamide does not affect the lipid metabolism or the carbohydrate metabolism. As an antihypertensive medicine, thiazide-type diuretics (only in small doses - 6.25- 12.5 mg hypothiazide, 12.5 mg chlorthalidone, 5 mg clopamide) can be the first choice, when dealing with essential hypertension disease without complications. They may also be used in monotherapy. When dealing with hypertension associated with old age or with isolated systolic hypertension, these products are recommended with “A” type evidence. For the treatment of left ventricular hypertrophy and post-stroke conditions associated with the treatment of hypertension, it is recommended to use indapamide in case of diabetes, furosemide and thiazide in case of a left ventricular dysfunction and heart failure, or a combination of these. When reviewing the national sales of mono-component diuretics between 2007 and 2013 in the National Health Insurance (OEP) database, we could see that the sales of hydrochlorothiazide, clopamide, and chlorthalidone decreased. In 2013 however, the sales of the latter experienced a turnover, which might indicate the activity of the followers of the new guideline. The use of diuretics with indapamide as their active substance increased. The prescription of diuretics used in a combination increased continuously between 2007 and 2010 and reached a monthly one million prescribed boxes. During the time in question, the use of products combined with hydrochlorothiazide (most products contain this agent) was the most dominant, but its share fell from 88% to 66% due to the growth of combinations containing the active ingredient indapamide. This is interesting because this combination is “unique” (perindopril + indapamide). During the period in question, only the prescription of this combination increased steadily. The use of diuretics is very important in antihypertensive therapy. If we compare the diuretics and their combinations to the recommendations, we can state that the treatment is done along the guidelines, or in other words the use of the metabolic neutral combination therapy is increasing.]

Hypertension and nephrology

JULY 20, 2013

[What you need to know about the influence of abnormal lipid profiles. - New experiences]

CSÁSZÁR Albert

[Statins represent the most important drug among antilipidemic therapy modalities playing dominant roles against atherosclerotic burden. Statin’s outstanding importance is due partly to cholesterol lowering capacity, however their anti-inflammatoric, antiproliferative, antioxidant and vasodilatative efficacies as a pleiotropic potential indicates much more impact on prompt retardation of atherosclerotic progression. The results concerning statin pleiotropic influence are reviewed which are in association with their new indication in ACS management. The second part of this review delineates suspected side effects of statin use. Only one concern brings safety information: it is a fact that patients being treated with statins may have a small increased risk of increased blood sugar levels and of being diagnosed with type 2 diabetes mellitus, but the cardiovascular and mortality benefits of statin therapy exceed the diabetes hazard.]

Clinical Neuroscience

JULY 30, 2013

[Survey of adults with epilepsy in Hungary: health related quality of life and costs]

PÉNTEK Márta, BERECZKI Dániel, GULÁCSI László, MIKUDINA Boglárka, ARÁNYI Zsuzsanna, JUHOS Vera, BAJI Petra, BRODSZKY Valentin

[Background and purpose - Disease burden of epilepsy in Hungary is underexplored. The aim of our study was to assess the quality of life and costs of adults with epilepsy. Methods - Cross-sectional questionnaire survey was performed in two hospital based outpatient neurology centres involving consecutive patients with epilepsy. Demography, clinical characteristics, health status (EQ-5D) and health care utilisation in the past 12 months were surveyed. Cost calculation was performed from the societal perspective. Results - Altogether 100 patients (women 58%) were involved, their mean age was 37.6 (SD=12.5) years. Disease duration was 15.0 (SD=12.1) years on average and 22 (22%) patients were disability pensioners. The EQ- 5D score was mean 0.83 (SD=0.24) which is significantly lower than the age-matched population norm (p=0.017). Pain/discomfort and anxiety/depression are the most problematic health dimensions. The annual cost per patient was mean 2421 (SD=3249) Euros (679 397 SD=911 783 HUF; conversion: 1 Euro=280.6 HUF), distribution between direct medical, direct non-medical and indirect costs was 33%, 18% or 49%. Patients with seizure in the past 12 months have higher cost on avergare than the asymptomatic subsample (3119 vs. 988 Euros/patient/year; 935 481 vs. 277 209 HUF/patient/year). Conclusion - Adults with epilepsy have significantly worse health status by the EQ-5D than the gender and age matched Hungarian general population. Disease related costs are significant especially in cases with seizure, productivity loss related costs are dominant. Our study provides basic data for clinical and sustainable health care financing decisions.]

Clinical Neuroscience

JANUARY 25, 2013

[Experiences with a self developed accelerometer]

VÉR Csilla, HOFGÁRT Gergely, SZIMA Gábor, KOVÁCS GÁBOR, NYISZTOR Zoltán, KARDOS László, CSIBA László

[Objective - In neurology the objective evaluation of improvement of paresis on every-day practice. The aim of this study was to develope and test a small 3-d acceleration measuring device and validate its usefulness. Patients and methods - We collected data from 17 mild and medium severity hemiparetic, bedridden acute ischaemic and hemorrhagic stroke patients and compared with data of 22 control subjects. The devices were attached to the paretic and non-paretic extremities and any movements (m/s2) and movement-durations were registered (24h). The data of movement-monitors were compared also with the changes of National Institute of Health Stroke Scale and European Stroke Scale. The electromiograph-sensor of polysomnograph has been used for validation. Results - Mild differences could be found in the use of dominant and non-dominant upper extremities of control persons. The control persons used their upper extremities more frequently than the stroke patients. Our data showed significant correlation with National Institute of Health Stroke Scale. Higher values on the scores were accompanied with less intensive use of extremities. We found a correlation between the consiousness level of patients and their activity of upper extremities. If the patients had severe consiousness disturbances they used significantly less their upper extremities. Conclusion - Our device sensitively detected the movement-differences between paretic and non-paretic extremities and can be used for quantitative evaluation of patient's neurological and consciousness status.]

Hypertension and nephrology

DECEMBER 08, 2012

[Terciary hyperparathyreosis or not? ? You cannot solve it alone: combined treatment in severe osteitis fibrosa cystica]

HERSZÉNYI Eszter, PATÓ Éva, SZALAY László, BÍRÓ Zsolt, György Andrea, DEÁK György

[Phosphate retention, consequential rise of the phosphaturic fibroblast growth factor-23 that decreases the level of calcitriol resulting in hypocalcemia facilitates the development of secondary hyperparathyroidism (sHPT) in chronic kidney disease (CKD). Hyperphosphatemia, hypocalcemia and low calcitriol level result in increasing secretion of parathormone (PTH). While sHPT occures frequently in CKD, the development of therapy-resistant and hypercalcemic tertiary hyperparathyroidism is rare due to current therapeutic approaches. We present the case of a 41 year old, treated schizophrenic, hemodialized male patient with severe osteitis fibrosa cystica, severe hyperparathyroidism (PTH 2500 pg/ml) - considered to be tertiary - and with repeated pathologic fractures. While hospitalized, the patient was under supervised, combined therapy with the vitamin D receptor activator paricalcitol and the calcimimetic cinacalcet that resulted in marked decrease of PTH level to 1589 pg/ml. However, after discharge from the hospital due to the lack of compliance he failed to take his medications and PTH had risen to the initial level. This case demonstrates that severe hyperparathyroidism thought to be therapy resistant responds well to a combination of paricalcitol and cinacalcet however, patient compliance is essential to therapeutic success.]