Publications by authors named "Samuel Komoly"

141 Publications

Fast 3 T nigral hyperintensity magnetic resonance imaging in Parkinson's disease.

Sci Rep 2021 Jan 13;11(1):1179. Epub 2021 Jan 13.

Pecs Diagnostic Centre, Pecs, Hungary.

The absence of nigral hyperintensity is a promising MR marker for Parkinson's disease (PD), but its small size imposes limitations on its routine use. Our aim was to compare Multi Echo Data Image Combination (MEDIC), segmented echo-planar imaging (EPISEG) and fluid-attenuated inversion recovery (FLAIR) sequences, as well as both magnitude (MAG) and susceptibility-weighted imaging (SWI) reconstructions of single-echo gradient echo for nigral hyperintensity imaging. Twenty-five healthy and twenty PD subjects were included. Sensitivity to motion artefacts, confidence of the radiologist in interpretation, rate of nondiagnostic scans and diagnostic accuracy were assessed. EPISEG was less motion-sensitive than MEDIC, MAG, and SWI, while FLAIR was less motion-sensitive than MAG and SWI. The reviewers were more confident when using EPISEG compared to any other techniques and MEDIC was superior to FLAIR. The proportions of nondiagnostic scans were lower for EPISEG than for other sequences. The best diagnostic performance was achieved for EPISEG (sensitivity = 65%, specificity = 96%). Using EPISEG, the absence of nigral hyperintensity in PD was associated with higher Hoehn-Yahr stage and MDS-UPDRS II + III. Nigral hyperintensity may be intact at the very early stages of PD. The promising properties of EPISEG may help the transfer of nigral hyperintensity imaging into daily clinical practice.
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http://dx.doi.org/10.1038/s41598-020-80836-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806895PMC
January 2021

Jobb oldali videoasszisztált thoracoscopos thymectomia a thymoma nélküli, felnőttkori myasthenia gravis sebészi kezelésében.

Magy Seb 2020 Dec 12;73(4):125-139. Epub 2020 Dec 12.

1 Országos Korányi Pulmonológiai Intézet, 1121 Budapest, Korányi Frigyes út 1.

Összefoglaló. Bevezetés: A myasthenia gravis javallatával végzett csecsemőmirigy-eltávolítás sebésztechnikai szempontból lényegesen megváltozott az elmúlt közel 30 évben. A standard műtétnek számító transsternalis és transcervicalis thymectomia mellett elterjedt a videoasszisztált thoracoscopos sebészeti (VATS), később pedig a robot sebészeti megoldás is. Két intézetünkben 2011-2012-ben vezettük be a VATS thymectomiát. Módszer: A többféle technikai megoldás közül a mediastinumot a jobb mellüreg felől megközelítő utat választottuk. Eleinte 3, később 2 pontos perimammaris portot készítettünk a thymus elérésére a beteg háton fekvő helyzetében. Minden esetben ultrahangos vágóeszközt alkalmaztunk. Kiterjesztett thymectomiára törekedve a perithymikus zsírszövetet is eltávolítottuk, szélesen megnyitva a bal oldali mellüreget is. A betegek kiválasztásában az átlagos testsúlyú vagy soványabb betegeket részesítettük előnyben. Eredmények: 8 év és 4 hónap alatt 92 beteget műtöttünk a fenti módszerrel thymoma nélküli myasthenia gravis alapbetegséggel. 20 férfi és 72 nő. Átlagéletkor 33,1 év (19-75 év). A műtéti idő 35-160 percig terjedt, átlagosan 82,3 perc volt. A tömegesebb mediastinalis zsírszövet néhány betegnél nehezítette a tájékozódást és a maradéktalan eltávolítást. Műtét alatt 4 esetben érsérülés és 3 ellenoldali tüdősérülés következett be. Két konverziót végeztünk (1-1 sternotomia és thoracotomia). Idegsérülés nem történt. Tíz beteg igényelt néhány órás művi lélegeztetést a műtét után, a többi beteget a műtőasztalon extubáltuk. Reintubáció, tracheostomia, légzési elégtelenség, műtéti halálozás nem volt. Az intenzív ápolási idő átlaga: 1,1 (0-11) nap. A teljes kórházi ápolási idő átlaga: 4,8 (3-15) nap. A drenázsidő 1-4 nap, átlagosan 1,16 nap. Két beteg (2,41%) halt meg a műtétet követően 1 és 5 éven belül. További 81 beteg 12-108 (átlag: 48) hónapos követése során a myastheniás állapotban 21 (25,3%) betegnél komplett, 4 (4,82%) betegnél gyógyszeres remisszió, 20 (24,1%) betegnél minimális manifesztáció, 28 (33,73%) betegnél egyéb javulás volt megállapítható. 4 (4,82%) beteg állapota változatlan maradt, 4 (4,82%) betegé pedig romlott. Következtetés: A VATS thymectomia teljesen új utat jelent a transsternalis módszerben járatos sebészek számára. A tömegesebb mediastinalis zsírszövet nagyon megnehezíti a műtétet. A perioperatív szak nagyon kedvező a betegek számára, és a késői eredmények is elfogadhatóak. Kérdéses, hogy a thymus minden esetben maradéktalanul eltávolítható-e ezzel a módszerrel.

Summary:

Introduction: Surgical technique of thymectomy performed for treatment of myasthenia gravis has considerably changed in the last almost 30 years. In addition to standard interventions - transsternal and transcervical thymectomy -, video-assisted thoracoscopic interventions (VATS), later on robotic surgery came into general use. In our two institutions, we apply VATS thymectomy since 2011.

Methods: There are several different surgical techniques for this purpose; we approached the mediastinum through the right thoracic cavity. We prepared initially 3, later on 2 perimammal ports for the access of the thymus; the patients were in supine position during surgery. We used an ultrasonic cutting device in all cases. In order to perform extended thymectomy, we removed the fatty tissue around the thymus and opened widely the left thoracic cavity, too. During patient enrollment, we preferred patients with normal or lower body weight.

Results: During 8 years and 4 months, we operated on 92 patients using this method for myasthenia gravis without thymoma; there were 20 male and 72 female patients at the age of 33 years on average (19-75 years). Duration of surgery was 35-160 minutes, 82.3 minutes on average. The bulky fatty tissue around the thymus made the orientation and the complete removal more difficult in a few patients. We experienced vascular injury in 4 cases and injury of the contralateral lung in 3 cases. Conversion was necessary in 2 cases (1 sternotomy and 1 thoracotomy), there were no nerve injuries. Assisted ventilation was necessary in case of ten patients in the postoperative period for a few hours; all other patients were extubated on the operating table. There was no need for repeated intubation and tracheostomy; there was no respiratory insufficiency and perioperative mortality. Duration of ICU care was 1.1 days on the average (0-11 days), that of the total hospital care 4.8 days on average (3-15 days). Duration of thoracic drainage was 1.16 days on average (1-4 days). Two patients (2.41%) died within one and five years after surgery. During 12-108 months (48 months on average) follow-up of 81 patients, 21 patients (25.3%) suffering from myasthenia total recovery was observed, pharmacologic remission was achieved in 4 patients (5.3%), minimal manifestation remained in 23 patients (24.1%), while in 28 patients (33.73%) other improvement was observed. The status of 4 patients (4.82%) remained unchanged and that of 4 patients (5.3%) worsened.

Conclusion: VATS thymectomy represents a completely new surgical method for surgeons having experience in transsternal surgical technique. Bulky mediastinal fatty tissue makes surgery very difficult. The perioperative period is advantageous for the patients and also the long term follow-up results are acceptable. It is questionable that the thymus can be completely removed with this method in all cases.
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http://dx.doi.org/10.1556/1046.73.2020.4.1DOI Listing
December 2020

Status epilepticus 2020.

Orv Hetil 2020 10 18;161(42):1779-1786. Epub 2020 Oct 18.

1 Általános Orvostudományi Kar, Neurológiai Klinika, Pécsi Tudományegyetem, Pécs, Rét u. 2., 7623.

Status epilepticus is the second most common neurological emergency with 15‒25% mortality rate. The principle of “time is brain” is also true for the treatment of status epilepticus: the earlier we start an adequate treatment, the more likely we are to stop progression. With treatment protocols based on high-level evidence, the progression of status epilepticus can be prevented in 75–90% of cases: we can avoid the induced coma or death. At the beginning of status epilepticus, parenteral benzodiazepine should be given immediately: intramuscular midazolam (0.2 mg/kg, max. 10 mg). In the case of easy veinous access, benzodiazepines can also be given intravenously. If the first benzodiazepine bolus does not stop the status epilepticus, we speak about established (benzodiazepine refractory) status epilepticus. In this case, a fast-acting non-benzodiazepine antiepileptic drug should be given: intravenous valproate (40 mg/kg, max. 3000 mg, within 10 minutes) or levetiracetam (60 mg/kg, max. 4500 mg, within 10 minutes). Refractory status epilepticus that persists for more than 1 hour and does not respond to either benzodiazepines or antiepileptics should be treated with general anesthesia (full narcosis). Induced coma can be achieved with fast-acting anesthetics, a combination of propofol with midazolam is the most frequently used one. Orv Hetil. 2020; 161(42): 1779–1786.
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http://dx.doi.org/10.1556/650.2020.31908DOI Listing
October 2020

Single Residue Variation in Skeletal Muscle Myosin Enables Direct and Selective Drug Targeting for Spasticity and Muscle Stiffness.

Cell 2020 Oct 8;183(2):335-346.e13. Epub 2020 Oct 8.

MTA-ELTE Motor Pharmacology Research Group, Pázmány Péter sétány 1/c, 1117 Budapest, Hungary; Department of Biochemistry, Eötvös Loránd University, Pázmány Péter sétány 1/c, 1117 Budapest, Hungary and Brunszvik u. 2, 2462 Martonvásár, Hungary. Electronic address:

Muscle spasticity after nervous system injuries and painful low back spasm affect more than 10% of global population. Current medications are of limited efficacy and cause neurological and cardiovascular side effects because they target upstream regulators of muscle contraction. Direct myosin inhibition could provide optimal muscle relaxation; however, targeting skeletal myosin is particularly challenging because of its similarity to the cardiac isoform. We identified a key residue difference between these myosin isoforms, located in the communication center of the functional regions, which allowed us to design a selective inhibitor, MPH-220. Mutagenic analysis and the atomic structure of MPH-220-bound skeletal muscle myosin confirmed the mechanism of specificity. Targeting skeletal muscle myosin by MPH-220 enabled muscle relaxation, in human and model systems, without cardiovascular side effects and improved spastic gait disorders after brain injury in a disease model. MPH-220 provides a potential nervous-system-independent option to treat spasticity and muscle stiffness.
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http://dx.doi.org/10.1016/j.cell.2020.08.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7596007PMC
October 2020

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.

Exp Mol Pathol 2020 08 21;115:104471. Epub 2020 May 21.

University of Pecs, Medical School, Department of Medical Genetics, Pecs, Hungary; Szentagothai Research Center, University of Pecs, Pecs, Hungary.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a developmental brain disorder characterized by an enlarged brain size with bilateral perisylvian polymicrogyria and a variable degree of ventriculomegaly. MPPH syndrome is associated with oromotor dysfunction, epilepsy, intellectual disability and postaxial hexadactyly. The molecular diagnosis of this disorder is established by the identification of a pathogenic variant in either AKT3, CCND2 or PIK3R2. Previously reported AKT3 variants are associated with various brain abnormalities and may lead to megalencephaly. MPPH syndrome is usually due to germline pathogenic AKT3 variants. Somatic mosaic pathogenic variants associated with hemimegalencephaly, which is similar to MPPH, have also been observed. A Hungarian Roma family with two half-siblings, which present with intellectual disability, dysmorphic features, epilepsy, brain malformations, and megalencephaly was studied. Whole exome sequencing (WES) analysis was performed. WES analysis revealed a heterozygous c.1393C > T p.(Arg465Trp) pathogenic missense AKT3 variant in both affected half-siblings. The variant was verified via Sanger sequencing and was not present in the DNA sample from the healthy mother, which was derived from peripheral blood, suggesting maternal germline mosaicism. In conclusion, this is the first report in which maternal germline mosaicism of a rare pathogenic AKT3 variant leads to autosomal dominantly inherited MPPH syndrome.
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http://dx.doi.org/10.1016/j.yexmp.2020.104471DOI Listing
August 2020

Small Fiber Neuropathy: Clinicopathological Correlations.

Behav Neurol 2020 2;2020:8796519. Epub 2020 Jan 2.

Department of Neurology, University of Pécs, Medical School, Pécs, Hungary.

Small fiber neuropathy develops due to the selective damage of the thin fibers of peripheral nerves. Many common diseases can cause this condition, including diabetes, infections, autoimmune and endocrine disorders, but it can occur due to genetic alterations, as well. Eighty-five skin biopsy-proven small-fiber neuropathy cases were analyzed. Forty-one (48%) cases were idiopathic; among secondary types, hypothyreosis (9.4%), diabetes mellitus (7%), cryoglobulinemia (7%), monoclonal gammopathy with unproved significance (4.7%), Sjögren's disease (3%), and paraneoplastic neuropathy (3%) were the most common causes. Two-thirds (68%) of the patients were female, and the secondary type started 8 years later than the idiopathic one. In a vast majority of the cases (85%), the distribution followed a length-dependent pattern. Intraepidermal fiber density was comparable in idiopathic and secondary forms. Of note, we found significantly more severe pathology in men and in diabetes. Weak correlation was found between patient-reported measures and pathology, as well as with neuropathic pain-related scores. Our study confirmed the significance of small fiber damage-caused neuropathic symptoms in many clinical conditions, the gender differences in clinical settings, and pathological alterations, as well as the presence of severe small fiber pathology in diabetes mellitus, one of the most common causes of peripheral neuropathy.
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http://dx.doi.org/10.1155/2020/8796519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199601PMC
January 2021

Investigation of Cuprizone-Induced Demyelination in mGFAP-Driven Conditional Transient Receptor Potential Ankyrin 1 (TRPA1) Receptor Knockout Mice.

Cells 2019 12 28;9(1). Epub 2019 Dec 28.

Department of Pharmacology and Pharmacotherapy, University of Pécs Medical School, Pécs H-7624, Hungary.

Transient receptor potential ankyrin 1 (TRPA1) receptors are non-selective cation channels responsive to a variety of exogenous irritants and endogenous stimuli including products of oxidative stress. It is mainly expressed by primary sensory neurons; however, expression of TRPA1 by astrocytes and oligodendrocytes has recently been detected in the mouse brain. Genetic deletion of TRPA1 was shown to attenuate cuprizone-induced oligodendrocyte apoptosis and myelin loss in mice. In the present study we aimed at investigating mGFAP-Cre conditional TRPA1 knockout mice in the cuprizone model. These animals were generated by crossbreeding GFAP-Cre and floxed TRPA1 (TRPA1) mice. Cuprizone was administered for 6 weeks and demyelination was followed by magnetic resonance imaging (MRI). At the end of the treatment, demyelination and glial activation was also investigated by histological methods. The results of the MRI showed that demyelination was milder at weeks 3 and 4 in both homozygous (GFAP-Cre TRPA1) and heterozygous (GFAP-Cre TRPA1) conditional knockout animals compared to Cre control mice. However, by week 6 of the treatment the difference was not detectable by either MRI or histological methods. In conclusion, TRPA1 receptors on astrocytes may transiently contribute to the demyelination induced by cuprizone, however, expression and function of TRPA1 receptors by other cells in the brain (oligodendrocytes, microglia, neurons) warrant further investigation.
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http://dx.doi.org/10.3390/cells9010081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017039PMC
December 2019

[Myasthenia gravis: perioperative complications of 1002 transsternal thymectomies - historical overwiev of 34 years long practice at one institution].

Magy Seb 2019 Sep;72(3):83-97

Mellkassebészet, Budai MÁV Kórház Budapest.

Thymectomy became an important part of the treatment of myasthenia gravis, since Alfred Blalock reported about his first surgery 80 years ago. Despite of several different surgical techniques already accepted abroad, sternal approach was the almost exclusive exposure for thymectomy in Hungary till 2006. In this publication, we analyze the direct surgical consequences and complications of this method. At the Surgical Department of Budai MÁV Hospital, 1002 transsternal thymectomies were performed during 34 years on patients suffering from myasthenia gravis. Surgeries were performed for neurological indications, following careful medical investigations, involving specialists in neurology and internal medicine. In cases associated with thymoma, surgery was indicated for two reasons: removal of the thymus and the tumor at the same time. Neurological indications, patient preparation, perioperative treatment and surgical technique have considerably changed during these 34 years. We interpret the results according to the two eras based on the most frequently applied surgical techniques (simple and extended thymectomy); we publish the data separately of the patients with thymoma and those who underwent repeated surgery, focusing basically on breath-related complications. The patients' age was 32 years on the average (8-73 years). Women/men ratio: 3.5:1. Myasthenia gravis was associated with thymoma in 12.7% of the patients. Repeated thymectomy was necessary in case of 11 patients; further two patients required repeated sternotomy after cardiac surgery. Respiratory failure occurred in 21,3% out of 525 myasthenic patients operated in the first 19-year-old era, emergency re-intubation and tracheostomy happened in 12,8% and in 11,2% as well. In the second 15-year-old period postoperative respiratory failure occurred in 12,7% with emergency re-intubation in 7,1% and tracheostomy only in 1,2% out of 338 myasthenic patients. Respiratory failure occurred in 19.1% out of 126 patients operated for thymoma; re-intubation was necessary in 12.8% of the cases and tracheostomy was performed in 20.6% of the patients. Respiratory failure occurred in 13 patients, who underwent repeated surgery (46.1%); the ratio of re-intubation was 15.4% and that of tracheostomies 46.1%. Serious surgical complications were infrequent also in the entire group of patients: 2 patients required repeated surgery due to sternal bleeding; one more patient underwent repeated surgery due to rupture of the drainage tube, 4 cases of mediastinitis in the first group, two cases of heart injury and one case of sternal disruption occurred in the second period. The overall mortality was 1.4%: 1.3% in the first period, 0.3% in the second period, 4% in the thymoma group and 7.7% after repeated surgeries. In a historical overview, the ratio of serious respiratory and airway complications and the mortality after transsternal thymectomies has considerably decreased, but the postoperative respiratory failure and the surgical risk of transsecting the sternum still pose a real risk.
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http://dx.doi.org/10.1556/1046.72.2019.3.1DOI Listing
September 2019

[Treatment of complex regional pain syndrome with amitriptyline].

Authors:
Sámuel Komoly

Ideggyogy Sz 2019 Jul;72(7-8):279-281

Pécsi Tudományegyetem, Neurológiai Klinika, Pécs.

Introduction - Complex regional pain syndrome is a di-stressing neuropathic pain condition without known etiology and evidence based treatment. Case presentation - Here a posttraumatic severe case of complex regional pain syndrome is presented, successfully treated by amitriptyline monotherapy. Amitriptyline is one of the most effective evidence based treatments of peri-pheral diabetic neuropathic pain and other neuropathic pain syndromes. Discussion - Amitriptyline seems to be effective to decrease pain, autonomic and motor symptoms in chronic regional pain syndrome. Conclusion - Controlled trials may be warranted to test the effectiveness of amitriptyline in complex regional pain syndrome.
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http://dx.doi.org/10.18071/isz.72.0279DOI Listing
July 2019

[Chronic orofacial pain].

Orv Hetil 2019 Jul;160(27):1047-1056

Klinikai Központ, Neurológiai Klinika, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs.

Orofacial pain is the common name of a variety of disorders from inflammatory diseases to neuropathic pain syndromes. This condition is quite common, it may involve 7% of the whole population. Patients (and doctors) are not aware of the origin of their complaints, therefore initial management falls among the variety of healthcare professionals. The aim of our review was to summarize the current evidence of chronic orofacial pain including diagnosis, management and pitfalls. Orv Hetil. 2019; 160(27): 1047-1056.
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http://dx.doi.org/10.1556/650.2019.31432DOI Listing
July 2019

Wnt pathway markers in molecular subgroups of glioblastoma.

Brain Res 2019 09 7;1718:114-125. Epub 2019 May 7.

Graduate School in Neurosciences. University of Pecs, 12. Szigeti Str., 7624 Pecs, Hungary; Institute of Laboratory Medicine, University of Pecs, 13. Ifjusag St., 7624 Pecs, Hungary; Szentagothai Research Center, University of Pecs, 20. Ifjusag St., 7624 Pecs, Hungary; Markusovszky University Teaching Hospital, 5. Markusovszky St., 9700 Szombathely, Hungary. Electronic address:

Glioblastoma (GBM) is a highly heterogeneous and aggressive brain tumor. Comprehensive genomic and transcriptomic analyses revealed that GBM segregates into three subgroups with characteristic signaling pathways. The Wnt pathway recently received increasing attention with the recognition of its importance in tumor development and recurrence through the promotion of glioma stem cells. As an extension of our previous translational studies, here we tested the possible interactions between key subgroup markers (IDH-1 R132H, EGFRvIII and both cytoplasmic and nuclear loss [c-/n-] of NF-1 expression) and the canonical (Wnt3a and beta-catenin) and non-canonical (Wnt5a and Fzd2) Wnt pathway markers by immunohistochemistry. These analyses revealed increased expression levels of both Wnt pathway markers with significant quantitative differences within, but not among subgroups. Wnt5a and Fzd2 levels were higher than the canonical marker levels in all subgroups. The strongest evidence for correlation between expression levels of the EGFRvIII subgroup marker and the Fzd2 Wnt marker was found, but weaker correlations also could be noted for IDH-1 R132H and NF-1 and some Wnt markers. The correlations detected between markers of the canonical and non-canonical pathways raised the possibility of cross-talk between the two pathways. Analyses of tumors with various NF-1 expression patterns (c+/n-; c-/n+ combined with c+/n+, and c-/n-) revealed that aberrant nuclear accumulation of NF-1 is accompanied by nuclear accumulation of beta-catenin, suggesting that they may act synergistically to define the tumor's biology. Altogether, our study presents expression characteristics of Wnt ligands and receptors, and suggests complex molecular interactions in subgroups of GBM.
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http://dx.doi.org/10.1016/j.brainres.2019.05.008DOI Listing
September 2019

Relationship of Iron Metabolism and Short-Term Cuprizone Treatment of C57BL/6 Mice.

Int J Mol Sci 2019 May 7;20(9). Epub 2019 May 7.

Department of Pharmaceutical Biology, Faculty of Pharmacy, University of Pécs, H-7624 Pécs, Hungary.

One of the models to investigate the distinct mechanisms contributing to neurodegeneration in multiple sclerosis is based on cuprizone (CZ) intoxication. CZ is toxic to mature oligodendrocytes and produces demyelination within the central nervous system but does not cause direct neuronal damage. The CZ model is suitable for better understanding the molecular mechanism of de- and remyelination processes of oligodendrocytes. CZ is a copper chelating agent and it also affects the iron metabolism in brain and liver tissues. To determine the early effect of CZ treatment on iron homeostasis regulation, cytosolic and mitochondrial iron storage, as well as some lipid metabolism genes, we investigated the expression of respective iron homeostasis and lipid metabolism genes of the corpus callosum (CC) and the liver after short-term CZ administration. In the present study C57BL/6 male mice aged four weeks were fed with standard rodent food premixed with 0.2 w/w% CZ for two or eight days. The major findings of our experiments are that short-term CZ treatment causes significant changes in iron metabolism regulation as well as in the expression of myelin and lipid synthesis-related genes, even before apparent demyelination occurs. Both in the CC and the liver the iron uptake, utilization and storage are modified, though not always the same way or to the same extent in the two organs. Understanding the role of iron in short-term and long-term CZ intoxication could provide a partial explanation of the discrepant signs of acute and chronic MS. These could contribute to understanding the development of multiple sclerosis and might provide a possible drug target.
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http://dx.doi.org/10.3390/ijms20092257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6539941PMC
May 2019

[Postoperative outcome of surgical interventions for epilepsy between 2005 and 2016 at the Epilepsy Center of Pécs].

Orv Hetil 2019 Feb;160(7):270-278

Neurológiai Klinika, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, Rét u. 2., 7623.

Introduction: Epilepsy as a chronic, severe neurologic disease significantly influences the quality of life of the epileptic patients. In candidates well selected for surgery, the seizure freedom is realistically achievable, and the quality of life can be further improved with complex individual rehabilitation.

Aim: We aimed to evaluate the postoperative outcome of patients who underwent epilepsy surgery between 2005 and 2016 at the Epilepsy Center at Pécs.

Method: We evaluated seizure status at regular follow-up visits after surgery and the quality of life using questionnaires focusing on employment and social status.

Results: 76% of the 72 patients who underwent surgical resection for epilepsy were free from disabling seizures , and 10% had rare disabling seizures (almost seizure-free), 7% experienced worthwhile improvement and 7% had no worthwhile improvement. Comparing the employment status of patients free from disabling seizures to patients not free from disabling seizures, we found that the employment status is significantly influenced by seizure freedom (p<0.01, Fisher's exact test). While 67% of seizure-free patients were employed, only 19% of patients not free from disabling seizures were hired.

Conclusion: Our results resemble the international tendencies and success rate, proving epilepsy surgery as an available, valid and effective treatment in well selected patients. Orv Hetil. 2019; 160(7): 270-278.
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http://dx.doi.org/10.1556/650.2019.31321DOI Listing
February 2019

[Comparison of subthalamic nucleus planning coordinates in 1Tesla and 3Tesla MRI for deep brain stimulation targeting].

Ideggyogy Sz 2018 Nov;71(11-12):405-410

Pécsi Tudományegyetem, Idegsebészeti Klinika, Pécs.

Background And Purpose: Deep brain stimulation (DBS) involves placing electrodes within specific deep brain nuclei. For movement disorders the most common indications are tremors, Parkinsons disease and dystonias. Surgeons mostly employ MR imaging for preoperative target selection. MR field geometrical distortion may contribute to target-selection error in the MR scan which can contribute to error in electrode placement.

Methods: In this paper we compared the STN target planning coordinates in six parkinsonian DBS patients. Each patient underwent target planning in 1T and 3T MRI. We statistically compared and analysed the target-, and the fiducial coordinates in two different magnetic fileds.

Results: The target coordinates showed no significant differences (Mann-Whitney test, p > 0.05), however we found significant difference in fiducial coordinates (p < 0.01), in 3T MRI it was more pronounced (mean ± SD: 0.8 ± 0.3 mm) comparing to 1T (mean ± SD: 0.4 ± 0.2 mm).

Conclusion: Preliminary results showed no significant differences in planning of target coordinates comparing 1T to 3T magnetic fields.
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http://dx.doi.org/10.18071/isz.71.0405DOI Listing
November 2018

Ictal piloerection is associated with high-grade glioma and autoimmune encephalitis-Results from a systematic review.

Seizure 2019 Jan 22;64:1-5. Epub 2018 Nov 22.

Department of Neurology, University of Pécs, H-7623, Rét u. 2., Pécs, Hungary; PTE-MTA Clinical Neuroscience MR Research Group, H-7623, Rét u. 2, Hungary. Electronic address:

Purpose: To comprehensively analyze ictal piloerection (IP) in a large number of subjects.

Methods: We performed a systematic review on case report studies of patients diagnosed with IP (1929-2017) with additional cases included from the Department of Neurology of University of Pécs, the National Institute of Clinical Neurosciences, and Odense University Hospital. Each included case was characterized regarding patient history, IP seizure characteristics, diagnostic work-up, and therapy. Comparative analyses were also carried out based on sex and pathology.

Results: Altogether, 109 cases were included. We observed a strong male predominance (p < 0.001). The mean age at onset of epilepsy was 39.5 ± 20.7 years (median: 38, IQR:24-57). The seizure onset zone was temporal (p < 0.001), and was lateralized to the ipsilateral hemisphere in unilateral localization (p = 0.001). The seizure was accompanied by cold shiver in 53%, and by other autonomic symptoms in 47% of cases. In 53% of patients, IP never progressed into complex partial or generalized tonic-clonic seizure; 16% of the patients reported occasional, and 31% regular generalization. Seizure frequency was higher among females (median:25/day, IQR:3-60) than among males (median:3/day, IQR:1-11) (p = 0.017). The two most common underlying pathologies were limbic encephalitis (23%) and astrocytoma (23%, among them 64% WHO III-IV astrocytoma).

Conclusion: IP was particularly associated with autoimmune encephalitis and high-grade glioma, suggesting IP's particular clinical importance in directing diagnostic work-up.
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http://dx.doi.org/10.1016/j.seizure.2018.11.009DOI Listing
January 2019

Comparing Sensitivity and Specificity of Addenbrooke's Cognitive Examination-I, III and Mini-Addenbrooke's Cognitive Examination in Parkinson's Disease.

Behav Neurol 2018 2;2018:5932028. Epub 2018 Oct 2.

Institute of Behavioral Sciences, University of Pécs, Pécs, Hungary.

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder characterized by numerous motor and nonmotor symptoms. Neurocognitive disorders (NCD) are one of the most troublesome problems and their diagnosis is often challenging.

Methods: We compared the sensitivity and specificity of several versions of Addenbrooke Cognitive Examination (ACE, ACE-III, and Mini-ACE) on 552 subjects with PD. Normal cognition, mild and major NCD were judged in accordance with the respective criteria of the Diagnostic and Statistical Manual of Mental Disorders 5 edition. Subsequently, we applied the receiver operation characteristic (ROC) analysis in comparison of different education levels.

Results: For subjects with education level 0-8 and 9-12 years, the ACE-III had the best discriminating capabilities for mild NCD (cut-off scores: 83.5 and 85.5 points, respectively), while Mini-ACE was the best for subjects having education > 12 years (cut-off score: 25.5 points). For detecting major NCD, ACE-III had the best diagnostic accuracy in all levels of education (cut-off scores: 70.5, 77.5, and 78.5 points for subjects having education level 0-8, 9-12, and >12 years, respectively).

Conclusion: ACE-III and its nested version, the Mini-ACE, had the best screening abilities for detecting mild and major NCD in PD.
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http://dx.doi.org/10.1155/2018/5932028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189663PMC
January 2019

Behavioural alterations and morphological changes are attenuated by the lack of TRPA1 receptors in the cuprizone-induced demyelination model in mice.

J Neuroimmunol 2018 07 6;320:1-10. Epub 2018 Apr 6.

Department of Pharmacology and Pharmacotherapy, University of Pécs Medical School, Pécs, Hungary; Molecular Pharmacology Research Group, János Szentágothai Research Center, University of Pécs, Pécs, Hungary. Electronic address:

We have recently reported that the Transient Receptor Potential Ankyrin 1 (TRPA1) receptor deficiency significantly attenuated cuprizone-induced demyelination by reducing the apoptosis of mature oligodendrocytes. The aim of the present study was to gather additional data on the role of TRPA1 by investigating the time course of behavioural alterations and morphological changes in cuprizone-treated TRPA1 receptor gene-deficient mice. Demyelination was induced by feeding male wild-type (WT) and TRPA1 gene-deleted (TRPA1 KO) mice with 0.2% cuprizone for 6 weeks. Behavioural tests were performed once per week to follow cuprizone-induced functional changes. Mechanonociceptive thresholds were investigated by a dynamic plantar aesthesiometer and von Frey filaments. Motor performance was assessed by accelerating RotaRod and horizontal grid tests. For the study of spontaneous activity, the open field test was used. The time course of corpus callosum demyelination was also followed weekly by magnetic resonance imaging (MRI). Histological analysis of myelin loss was performed with Luxol Fast Blue (LFB) staining at week 3 and electron microscopy (EM) at week 6. Astrocyte and microglia accumulation at week 3 was assessed by immunohistochemistry (IHC). Cuprizone treatment induced no changes in mechanonociception or motor performance. In the open arena, cuprizone-treated mice spent more time with locomotion, their mean velocity was significantly higher and the distance they travelled was longer than untreated mice. No statistical difference was detected between WT and TRPA1 KO mice in these parameters. On the other hand, significantly increased rearing behaviour was induced in WT mice compared to TRPA1 KO animals. Morphological changes detected with MRI, LFB, IHC and EM analysis revealed reduced damage of the myelin and attenuated accumulation of astrocytes and microglia in cuprizone-treated TRPA1 KO animals, at each examined time point. Our recent data further suggest that inhibition of TRPA1 receptors could be a promising therapeutic approach to limit central nervous system damage in demyelinating diseases.
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http://dx.doi.org/10.1016/j.jneuroim.2018.03.020DOI Listing
July 2018

Quantitative Comparison of Primary Cilia Marker Expression and Length in the Mouse Brain.

J Mol Neurosci 2018 Mar 20;64(3):397-409. Epub 2018 Feb 20.

Department of Neurology, Faculty of Medicine, University of Pécs, Rét utca 2, Pécs, 7623, Hungary.

Primary cilia are small, special cellular organelles that provide important sensory and signaling functions during the development of mammalian organs and coordination of postnatal cellular processes. Dysfunction of primary cilia are thought to be the main cause of ciliopathies, a group of genetic disorders characterized by overlapping developmental defects and prominent neurodevelopmental features. Although, disrupted cilia-linked signaling pathways have been implicated in the regulation of numerous neuronal functions, the precise role of primary cilia in the brain are still unknown. Importantly, studies of recent years have highlighted that different functions of primary cilia are reflected by their diverse morphology and unique signaling components localized in the ciliary membrane. In the present study, we conducted a comparative analysis of the expression pattern, distribution and length of adenylyl cyclase 3, somatostatin receptor 3, and ADP-ribosylation factor-like protein 13B expressing primary cilia in the mouse brain. We show that cilia of neurons and astrocytes display a well characterized distribution and ciliary marker arrangements. Moreover, quantitative comparison of their length, density and occurrence rate revealed that primary cilia exhibit region-specific alternations. In summary, our study provides a comprehensive overview of the cellular organization and morphological traits of primary cilia in regions of the physiological adult mouse brain.
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http://dx.doi.org/10.1007/s12031-018-1036-zDOI Listing
March 2018

[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].

Orv Hetil 2017 Nov;158(47):1873-1882

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed. We present here the differential diagnosis of rhabdomyolysis and exertional muscle complaints, with the metabolic myopathies in focus. The main features of fatty acid oxidation disorders are highlighted, acute and chronic managements of very long-chain acyl-coenzyme A-dehydrogenase deficiency are discussed. Metabolic myopathies respond well to treatment, so good quality of life can be achieved. However, especially in fatty acid oxidation disorders, a metabolic crisis may develop quickly and can be fatal, albeit rarely. Some of these disorders can be identified by newborn screening, but occasionally the symptoms may manifest only in adulthood. With the presentation of this case we would like to point out that in the differential diagnosis of recurrent rhabdomyolysis inherited metabolic disorders should be considered regardless of the patient's age. Orv Hetil. 2017; 158(46): 1873-1882.
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http://dx.doi.org/10.1556/650.2017.30923DOI Listing
November 2017

Iron Concentration in Deep Gray Matter Structures is Associated with Worse Visual Memory Performance in Healthy Young Adults.

J Alzheimers Dis 2017 ;59(2):675-681

Department of Neurology, University of Pécs, Medical School, Pécs, Hungary.

Abnormally high deposition of iron can contribute to neurodegenerative disorders with cognitive impairment. Since previous studies investigating cognition-brain iron accumulation relationships focused on elderly people, our aim was to explore the association between iron concentration in subcortical nuclei and two types of memory performances in a healthy young population. Gender difference was found only in the globus pallidus. Our results showed that iron load characterized by R2* value on the MRI in the caudate and putamen was related to visual memory, while verbal memory was unrelated to iron concentration.
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http://dx.doi.org/10.3233/JAD-170118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523837PMC
April 2018

New insights into the burden and costs of multiple sclerosis in Europe: Results for Hungary.

Mult Scler 2017 Aug;23(2_suppl):91-103

University of Pécs, Pécs, Hungary.

Introduction: To estimate the value of interventions in multiple sclerosis (MS) - where lifetime costs and outcomes cannot be observed - outcome data have to be combined with costs. This requires that cost data be regularly updated.

Objectives And Methods: This study is part of a cross-sectional retrospective study in 16 countries collecting data on resource consumption, work capacity, health-related quality of life (HRQoL) and prevalent symptoms for patients with MS. Descriptive analyses are presented by level of disability, from the societal perspective, in HUF 2015.

Results: A total of 521 patients (mean age 47 years) participated; 85% were below retirement age, and of these, 47% were employed. Employment was related to disability and MS affected productivity at work for 82% of those working. Overall, 94% and 66% of patients experienced fatigue and cognitive difficulties as a problem, respectively. The mean utility and annual costs were 0.691 and 3,432,000HUF at Expanded Disability Status Scale (EDSS) 0-3, 0.491 and 5,262,000HUF at EDSS 4-6.5 and 0.076 and 6,235,000HUF at EDSS 7-9, respectively. The average cost of a relapse was estimated at 240,500HUF.

Conclusion: This study illustrates the burden of MS on Hungarian patients and provides current data that are important for the development of health policies.
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http://dx.doi.org/10.1177/1352458517708142DOI Listing
August 2017

How Efficient Is Subthalamic Deep Brain Stimulation in Reducing Dyskinesia in Parkinson's Disease?

Eur Neurol 2017 8;77(5-6):281-287. Epub 2017 Apr 8.

Doctoral School of Clinical Neuroscience, University of Pécs, Pécs, Hungary.

Background: Dyskinesia is among the most troublesome symptoms of advanced Parkinson's disease (PD). The recently developed Unified Dyskinesia Rating Scale (UDysRS) can simultaneously measure several subjective and objective aspects of dyskinesia, irrespective of the other motor symptoms of PD. Despite the advantages of deep brain stimulation (DBS), previous studies on DBS have not used the UDysRS yet.

Methods: In this prospective study, 71 consecutive patients undergoing DBS implantation were enrolled. Patients were examined twice: 1 week prior to the DBS implantation (baseline) and 12 months postoperatively. The severity of PD-related symptoms was assessed by the Movement Disorders Society Unified PD Rating Scale (MDS-UPDRS). The presence and severity of dyskinesia were specifically measured by the UDysRS and patient diaries.

Results: At baseline, all 71 patients had dyskinesia, but 1 year after DBS implantation, 25 patients were dyskinesia-free, and an additional 19 had only mild dyskinesia. The total score on the UDysRS decreased from 38.0 ± 17.8 to 10.8 ± 13.0 (p < 0.001). Besides this, all parts of the UDysRS showed significant improvement after STN DBS treatment, and the magnitude of these changes had a large effect size. The total score of MDS-UPDRS improved from 76.5 ± 24.3 to 60.4 ± 21.4 points (p < 0.001).

Conclusions: Based on our results, UDysRS can reliably detect improvements in dyskinesia after DBS implantation.
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http://dx.doi.org/10.1159/000455208DOI Listing
January 2018

Association of Gait Characteristics and Depression in Patients with Parkinson's Disease Assessed in Goal-Directed Locomotion Task.

Parkinsons Dis 2017 15;2017:6434689. Epub 2017 Feb 15.

Institute of Behavioral Sciences, University of Pécs, Pécs 7624, Hungary.

In the genesis of Parkinson's disease (PD) clinical phenomenology the exact nature of the association between bradykinesia and affective variables is unclear. In the present study, we analyzed the gait characteristics and level of depression in PD and healthy volunteers. Patients with PD ( = 48) and healthy controls ( = 52) were recruited for the present study. Walking speed, stride length, and cadence were compared between groups while participants completed a goal-directed locomotion task under visually controlled (VC) and visually noncontrolled conditions (VnC). Significantly higher depression scores were found in PD comparing to healthy control groups. In PD, depression was associated with gait components in the VC wherein the place of the target was visible. In contrast, in healthy subjects the depression was associated with gait components in VnC wherein the location and image of the target were memorized and recalled. In patients with PD and depression, the visually deprived multitask augments the rate of cadence and diminishes stride length, while velocity remains relatively unchanged. The depression associated with gait characteristics as a comorbid affective factor in PD, and that impairs the coherence of gait pattern. The relationship between depression and gait parameters appears to indicate that PD not only is a neurological disease but also incorporates affective disturbances that associate with the regulation of gait characteristics.
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http://dx.doi.org/10.1155/2017/6434689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331290PMC
February 2017

Minimal clinically important differences for the experiences of daily living parts of movement disorder society-sponsored unified Parkinson's disease rating scale.

Mov Disord 2017 05 20;32(5):789-793. Epub 2017 Feb 20.

Department of Neurology, University of Pécs, Pécs, Hungary.

Background: The minimal clinically important difference is the smallest change of scores clinically meaningful to patients.

Objectives: We aimed to calculate these threshold values in association with the International Parkinson and Movement Disorder Society UPDRS (MDS-UPDRS) Parts I and II and to evaluate the feasibility of the composite score of Part I and II (MDS-UPDRS I+II) as an outcome.

Methods: Nine hundred eighty-five paired investigations of 365 patients were reviewed, implementing three different techniques simultaneously.

Results: Based on the ordinal regression modeling, the MDS-UPDRS I+II score is an applicable outcome measure. Any improvement greater than 2.64 points or any worsening more than 2.45 points on MDS-UPDRS Part I represent a minimal, yet clinically meaningful change. In reference to Part II, the smallest changes considered clinically relevant were 3.05 and 2.51 points for improvement and deterioration, respectively. The thresholds for MDS-UPDRS I+II were 5.73 points for improvement and 4.70 points for worsening.

Conclusions: Our minimal clinically important difference thresholds can be utilized in clinical practice in judging clinical relevance. © 2016 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.26960DOI Listing
May 2017

Levodopa/carbidopa intestinal gel can improve both motor and non-motor experiences of daily living in Parkinson's disease: An open-label study.

Parkinsonism Relat Disord 2017 04 3;37:79-86. Epub 2017 Feb 3.

Department of Neurology, University of Pécs, Pécs, Hungary; MTA-PTE Clinical Neuroimaging MR Research Group, Pécs, Hungary. Electronic address:

Background: Levodopa/carbidopa intestinal gel therapy (LCIG) can efficiently improve several motor and non-motor symptoms of advanced Parkinson's disease (PD). The recently developed Movement Disorder Society-sponsored Unified Parkinson's Disease Rating Scale (MDS-UPDRS) improved the original UPDRS making it a more robust tool to evaluate therapeutic changes. However, previous studies have not used the MDS-UPDRS and the Unified Dyskinesia Rating Scale (UDysRS) to assess the efficacy of LCIG.

Objectives: Our aim was to determine if the MDS-UPDRS and UDysRS could detect improvement in the experiences of daily living following 1-year LCIG treatment.

Methods: In this prospective, multicenter, open-label study, 34 consecutive patients undergoing LCIG treatment were enrolled. Patients were examined twice: prior to LCIG initiation and 12 months later. Impact of PD-related symptoms and dyskinesia was assessed by the MDS-UPDRS and UDysRS.

Results: Non-motor Experiences of Daily Living part of MDS-UPDRS improved from 20 (median, interquartile-range, IQR:14-23) to 16 points (median, IQR:12-20, p = 0.044) and the Motor Experiences of Daily Living ameliorated from 24 (median, IQR:20-29) to 18 points (median, IQR:13-25, p = 0.025). Health-related quality of life, measured by PDQ-39, also improved from 35.4 (median, IQR:26.9-50.3) to 27.0 (median, IQR:21.3-31.4) points (p = 0.003). The total score of UDysRS decreased from 47 (median, IQR:36-54) to 34 (median, IQR:21-45) points (p = 0.003).

Conclusions: As far as the authors are aware of, our paper is the first to evaluate the impact of LCIG on dyskinesia by the means of UDysRS. Changes in MDS-UPDRS and UDysRS confirm that LCIG treatment can efficiently improve experiences of daily living in advanced PD.
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http://dx.doi.org/10.1016/j.parkreldis.2017.02.001DOI Listing
April 2017

Changes in Quality of Life in Parkinson's Disease: How Large Must They Be to Be Relevant?

Neuroepidemiology 2017 4;48(1-2):1-8. Epub 2017 Feb 4.

Doctoral School of Clinical Neuroscience, University of Pécs, Pécs, Hungary.

Background: Minimal clinically important difference (MCID) is the smallest change in an outcome, which a patient identifies as meaningful. Although the 2 most frequently applied Parkinson's disease (PD) "quality of life" questionnaires (the PDQ-39 and PDQ-8) provide encouragingly similar results, their MCID thresholds appear to be vastly different. Our aim was to calculate the MCID estimates for both PDQ-39 and PDQ-8 Summary Indices (PDQ-39-SI and PDQ-8-SI) by the utilization of both anchor- and distribution-based techniques.

Methods: Nine hundred eighty-five paired investigations of 365 patients were included. Three different techniques were used simultaneously to calculate the MCID values.

Results: First, we replicated the previously published results demonstrating how both PDQ-39-SI and PDQ-8-SI provide similar values and respond in a similar way to changes. Subsequently, we calculated the MCID thresholds. The most optimal estimates for MCID thresholds for PDQ-39-SI were -4.72 and +4.22 for detecting minimal clinically important improvement and worsening. For PDQ-8-SI, these estimates were -5.94 and +4.91 points for detecting minimal clinically important improvement and worsening respectively.

Conclusions: Our study is the first one that directly compared the MCID estimates for both PDQ-39-SI and PDQ-8-SI on a large pool of patients including all disease severity stages. These MICD estimates varied across PD severity.
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http://dx.doi.org/10.1159/000455863DOI Listing
March 2018

Combination of severe facial and cervical vascular malformation with obstructive sleep apnea syndrome: diagnostic and therapeutic approaches.

Ideggyogy Sz 2017 Jan;70(1-2):7-13

Department of Otorhinolaryngology, University of Pécs.

The combination of obstructive sleep apnea syndrome and vascular malformation within the head and neck region is a rare condition, and interestingly, only a few cases have recently been published. Propagation of the vascular mass to the larynx and pharynx can cause breathing and swallowing difficulties. Due to these sypmtoms, examination and initiation of appropriate therapy for such patients are indeed challenging. We reviewed the literature available and present our case of a 64 year old woman emphasizing the complaints of sleep apnea syndrome and vascular malformation of the face and neck region. Polygraphic examination detected severe obstructive sleep apnea syndrome. The MR examination of the neck revealed extensive vascular mass narrowing the pharyngo-laryngeal region, thereby causing temporal bone destruction on the right side with intracranial propagation. ENT examination demonstrated significant narrowing of the pharyngeal lumen and the laryngeal aditus caused by multiple hemangiomas. CPAP titration showed the minimalization of the apnea-hypopnea index on the effective pressure level. Regular CPAP usage resulted in diminishing a majority of the patient's complaints. Our examination clearly demonstrates, obstructive sleep apnea syndrome coupled with significantly obstructing vascular malformation in the head and neck region can be effectively treated safely with a CPAP device, if surgical therapy is not possible. We summarized our findings and the data available in the literature to set up recommendations for the appropriate examination and therapy (including mask fit, etc.) of vascular malformations and hemangiomas causing pharyngo-laryngeal obstruction.
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http://dx.doi.org/10.18071/isz.70.0007DOI Listing
January 2017

TRPA1 deficiency is protective in cuprizone-induced demyelination-A new target against oligodendrocyte apoptosis.

Glia 2016 12 29;64(12):2166-2180. Epub 2016 Aug 29.

Department of Pharmacology and Pharmacotherapy, Faculty of Medicine, University of Pécs, Pécs, Hungary.

Multiple sclerosis is a chronic inflammatory, demyelinating degenerative disease of the central nervous system. Current treatments target pathological immune responses to counteract the inflammatory processes. However, these drugs do not restrain the long-term progression of clinical disability. For this reason, new therapeutic approaches and identification of novel target molecules are needed to prevent demyelination or promote repair mechanisms. Transient Receptor Potential Ankyrin 1 (TRPA1) is a nonselective cation channel with relatively high Ca permeability. Its pathophysiological role in central nervous system disorders has not been elucidated yet. In the present study, we aimed to assess the distribution of TRPA1 in the mouse brain and reveal its regulatory role in the cuprizone-induced demyelination. This toxin-induced model, characterized by oligodendrocyte apoptosis and subsequent primary demyelination, allows us to investigate the nonimmune aspects of multiple sclerosis. We found that TRPA1 is expressed on astrocytes in the mouse central nervous system. Interestingly, TRPA1 deficiency significantly attenuated cuprizone-induced demyelination by reducing the apoptosis of mature oligodendrocytes. Our data suggest that TRPA1 regulates mitogen-activated protein kinase pathways, as well as transcription factor c-Jun and a proapoptotic Bcl-2 family member (Bak) expression resulting in enhanced oligodendrocyte apoptosis. In conclusion, we propose that TRPA1 receptors enhancing the intracellular Ca concentration modulate astrocyte functions, and influence the pro or anti-apoptotic pathways in oligodendrocytes. Inhibition of TRPA1 receptors might successfully diminish the degenerative pathology in multiple sclerosis and could be a promising therapeutic target to limit central nervous system damage in demyelinating diseases. GLIA 2016;64:2166-2180.
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http://dx.doi.org/10.1002/glia.23051DOI Listing
December 2016

Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.

Muscle Nerve 2017 04 26;55(4):564-569. Epub 2016 Dec 26.

Department of Neurology, University of Pécs, Pécs, Rét u. 2, Hungary.

Introduction: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders.

Methods: Serum FGF21 levels were determined in 71 human samples. Thirty patients with mitochondrial disease, 16 patients with myotonic dystrophy type 1 (DM1), 5 patients with facioscapulohumeral dystrophy, and 20 healthy controls were enrolled. Results Serum FGF21 levels were significantly elevated in patients with progressive external ophthalmoplegia and DM1 compared with patients with facioscapulohumeral dystrophy, other types of mitochondrial diseases, and controls. In the mitochondrial disorder group, serum FGF21 levels were related to the number of ragged blue fibers. Significant insulin resistance was found in DM1 that might be responsible for FGF21 elevation. Conclusions FGF21 elevation may be associated with certain types of mitochondrial disease, and it is influenced by insulin resistance. Muscle Nerve 55: 564-569, 2017.
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http://dx.doi.org/10.1002/mus.25364DOI Listing
April 2017

Impact of Sex on the Nonmotor Symptoms and the Health-Related Quality of Life in Parkinson's Disease.

Parkinsons Dis 2016 16;2016:7951840. Epub 2016 May 16.

Department of Neurology, University of Pécs, Rét Street 2, Pécs, Hungary; MTA-PTE Clinical Neuroscience MR Research Group, Rét Street 2, Pécs, Hungary.

Background. Female Parkinson's disease (PD) patients seem to experience not only more severe motor complications and postural instability but also more pronounced depression, anxiety, pain, and sleep disturbances. Objective. The aim of the present study was to evaluate the role of sex as a possible independent predictor of HRQoL in PD. Methods. In this cross-sectional study, 621 consecutive patients treated at the University of Pécs were enrolled. Severity of PD symptoms was assessed by MDS-UPDRS, UDysRS, Non-Motor Symptoms Scale, PDSS-2, Hamilton Anxiety Scale, Montgomery-Asberg Depression Rating Scale, Lille Apathy Rating Scale, and Addenbrooke Cognitive Examination. HRQoL was assessed by PDQ-39 and EQ-5D. Multiple regression analysis was performed to estimate the PDQ-39 and EQ-5D index values based on various clinical factors. Results. Although females received significantly lower dosage of levodopa, they had significantly more disabling dyskinesia and worse postural instability. Anxiety, pain, sleep disturbances, and orthostatic symptoms were more frequent among females while sexual dysfunction, apathy, and daytime sleepiness were more severe among males. Women had worse HRQoL than men (EQ-5D index value: 0.620 ± 0.240 versus 0.663 ± 0.229, p = 0.025, and PDQ-39 SI: 27.1 ± 17.0 versus 23.5 ± 15.9, p = 0.010). Based on multiple regression analysis, sex was an independent predictor for HRQoL in PD. Conclusions. Based on our results, female sex is an independent predictor for having worse HRQoL in PD.
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http://dx.doi.org/10.1155/2016/7951840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884810PMC
June 2016