Clinical Neuroscience

[The 25 years of the epileptological workshops in Gyõr (1984-2008)]

OSTORHARICS-HORVÁTH György

JUNE 02, 2009

Clinical Neuroscience - 2009;62(05-06)

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Clinical Neuroscience

[Pain sensitivity changes in schizophrenic patients and animal models - Part II.]

TUBOLY Gábor, HORVÁTH Györgyi

[Diminished pain sensitivity in schizophrenic patients has been reported for more than 50 years, however little is known about the substrate and the basic mechanisms underlying altered pain sensitivity in this disease, therefore, relevant animal models are of decisive importance in the study of psychiatric diseases. The authors report a review consisting of two parts focusing on pain sensitivity changes in patients and in different animal models which proved the eligibility as schizophrenia models and pain sensitivities have also been determined. The second part of this article analyzed the results regarding knock out mice as schizophrenia models. These data proved that several genes have significant role in the pathomechanism of schizophrenia; therefore deficiency in one gene does not produce animals showing all signs of this disease. As regards the pain sensitivity changes, only a few data are available with controversial results. Data originated from complex chronic animal models indicate that they might be more adequate methods for studying the mechanisms of schizophrenia including the pain-sensitivity changes.]

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

[Hypertension and it’s therapy in acut phase of stroke]

KÁPOSZTA Zoltán, RÁCZ Klára

[The elevation of blood pressure above normal and premorbid values within the first 24 hours of symptom onset in patients with stroke is relatively common. This acute hypertensive response is usually managed by different group of physicians, including general practitioners, emergency physicians, neurologists, internists, intensivisists. Management strategies of this phenomenon vary considerably. The first consideration in blood pressure management in this clinical setting is to determine whether the patient might be a candidate for thrombolytic therapy. For those patients are not entitled to that therapy premorbide blood pressure values and the type of stroke are the key data for sufficient control of hypertension. In patients with chronic hypertension, the lower end of the autoregulation curve is shifted toward high pressure and an impaired autoregulation due to acute stroke may increase the risk for further brain tissue damage if the blood pressure is inadequately controlled. The current guidelines recommend lowering blood pressure in patients with an intracranial haemorrhage below 160- 180/100-105 mmHg, if the patient is normotensive, while the target level is 180/105 mmHg in hipertensive patients. However, in ischaemic stroke no treatment is recommended if systolic blood pressure <220 mmHg and/or diastolic blood pressure <120 mmHg in the acute stage. Clinical studies are rare which assess the effectiveness of different antihipertensive drugs in acute stroke. The first strong evidence came from the ACCESS (The Acute Candesartan Cilexetil Therapy in Stroke Survivors) trial which suggested that a 7-day course of candesartan after an acute ischaemic stroke significantly improves cardiovascular morbidity and mortality.]

Clinical Neuroscience

[99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders]

ARANKA László, AMBRUS Edit, VÖRÖS Erika, SVEKUS András, KÓBOR Jenõ, BEREG Edit, PALATKA János, PÁVICS László

[The aim of our study was to determine regional cerebral blood flow (rCBF) abnormalities in different types of enzymopathies. Patients and methods - Among the patients with genetically determined enzymopathies 3 patients had aminoacidopathies, and 11 had different types of encephalopathies, from which 10 had mitochondrial encephalomyopathy (MEMP), and 1 patient had hyperuricaemic encephalopathy. Besides the mentioned 14 patients, 1 had ceroid lipofuscinosis and another patient had tuberous sclerosis. The further distribution of the MEMP patients’ group was the following - 5 patients had MEMP with lactic acidosis, 5 had Leigh’s disease (subacute necrotizing encephalopathy), from which 1 had cytochrome-c-oxidase deficiency (COX). Additionally in all patients were performed cerebral MRI and SPECT examination 10 min. after intravenous administration of 20 Mbq/kg 99 mTc-HMPAO. Results - Fourteen out of 16 SPECT findings were pathologic, showing decreased focal frontal/temporal/temporoparietal cerebral blood perfusion. Aminoacidopathic group - all the 3 patients revealed pathologic signs from the aminoacidopathic patients’ group. Among them the ornithine transcarbamylase (OTC) heterozygous female patient with left-sided hemiparesis caused by hyperammonemic stroke at 10 month-age, showed right sided temporoparietal, occipital and left frontal hypoperfusion, nearly 6 years after the cerebral vascular attack. This finding might be resulted because of diaschisis. Mitochondrial encephalo-myopathic (MEMP) group - all the four patients with MEMP and lactic acidosis showed focal hypoperfusion in the temporal region, while the perfusion was normal in the COX deficient patient and in 2 Leigh’s disease (subacute necrotizing encephalopathy) patients. In the remaining 1 Leigh’s patient frontotemporal hypoperfusion was found. In all patients there were non specific structural abnormalities detected by MRI - cortical and subcortical atrophy, and scattered demyelination foci. In the case of ceroid lipofuscinosis the MRI showed cerebral atrophy and cerebellar hypoplasia, and the SPECT showed right frontal and occipital hypoperfusion, bilateral parietal physiological riping process. The patient with tuberous sclerosis showed bilateral temporo-occipital hypoperfusion. Conclusion - 1. SPECT images demonstrated hypoperfusion rCBF changes in 14 out of all 16 patients. 2. Regional cerebral/cerebellar hypoperfusion was detected by SPECT in mitochondrial encephalomyopathies, with lactate acidosis and aminoacidopathies giving high informative value about the cerebral perfusion.]

Clinical Neuroscience

[Long term experience with Stalevo]

KLIVÉNYI Péter, VÉCSEI László

[The triple combination of levodopa, DDCI and entacapone (Stalevo) is used to treat motor complication in patients with Parkinson,s disease. In this study we summarized the clinical data of our patients treated with Stalevo for the longest period. We can concluded, that after switching to Stalevo due to wearing off, the average levodopa doses were lower then before and the motor complications were milder. After 3 years of Stalevo therapy the levodopa doses were increased but still did not reach the average doses before introducing Stalevo. After switching the patients, general well-being was improved as indicated by the visual analogue scale. In summary, the Stalevo treatment is safe and effective for long run and improves the patients, quality of life.]

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Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

Clinical Neuroscience

Comparison of direct costs of percutaneous full-endoscopic interlaminar lumbar discectomy and microdiscectomy: Results from Turkey

ÜNSAL Ünlü Ülkün, ŞENTÜRK Salim

Microdiscectomy (MD) is a stan­dard technique for the surgical treatment of lumbar disc herniation (LDH). Uniportal percutaneous full-endoscopic in­terlaminar lumbar discectomy (PELD) is another surgical op­tion that has become popular owing to reports of shorter hos­pitalization and earlier functional recovery. There are very few articles analyzing the total costs of these two techniques. The purpose of this study was to compare total hospital costs among microdiscectomy (MD) and uniportal percutaneous full-endoscopic interlaminar lumbar discectomy (PELD). Forty patients aged between 22-70 years who underwent PELD or MD with different anesthesia techniques were divided into four groups: (i) PELD-local anesthesia (PELD-Local) (n=10), (ii) PELD-general anesthesia (PELD-General) (n=10), (iii) MD-spinal anesthesia (MD-Spinal) (n=10), (iv) MD-general anesthesia (MD-General) (n=10). Health care costs were defined as the sum of direct costs. Data were then analyzed based on anesthetic modality to produce a direct cost evaluation. Direct costs were compared statistically between MD and PELD groups. The sum of total costs was $1,249.50 in the PELD-Local group, $1,741.50 in the PELD-General group, $2,015.60 in the MD-Spinal group, and $2,348.70 in the MD-General group. The sum of total costs was higher in the MD-Spinal and MD-General groups than in the PELD-Local and PELD-General groups. The costs of surgical operation, surgical equipment, anesthesia (anesthetist’s costs), hospital stay, anesthetic drugs and materials, laboratory wor­kup, nur­sing care, and postoperative me­dication diffe­red significantly among the two main groups (PELD-MD) (p<0.01). This study demonstrated that PELD is less costly than MD.

Clinical Neuroscience

Cholinesterase inhibitors and memantine for the treatment of Alzheimer and non-Alzheimer dementias

BALÁZS Nóra , BERECZKI Dániel, KOVÁCS Tibor

In aging societies, the morbidity and mortality of dementia is increasing at a significant rate, thereby imposing burden on healthcare, economy and the society as well. Patients’ and caregivers’ quality of life and life expectancy are greatly determined by the early diagnosis and the initiation of available symptomatic treatments. Cholinesterase inhibitors and memantine have been the cornerstones of Alzheimer’s therapy for approximately two decades and over the years, more and more experience has been gained on their use in non-Alzheimer’s dementias too. The aim of our work was to provide a comprehensive summary about the use of cholinesterase inhibitors and memantine for the treatment of Alzheimer’s and non-Alzheimers’s dementias.

Clinical Neuroscience

[The connection between the socioeconomic status and stroke in Budapest]

VASTAGH Ildikó, SZŐCS Ildikó, OBERFRANK Ferenc, AJTAY András, BERECZKI Dániel

[The well-known gap bet­ween stroke mortality of Eastern and Western Euro­pean countries may reflect the effect of socioeconomic diffe­rences. Such a gap may be present between neighborhoods of different wealth within one city. We set forth to compare age distribution, incidence, case fatality, mortality, and risk factor profile of stroke patients of the poorest (District 8) and wealthiest (District 12) districts of Budapest. We synthesize the results of our former comparative epidemiological investigations focusing on the association of socioeconomic background and features of stroke in two districts of the capital city of Hungary. The “Budapest District 8–12 project” pointed out the younger age of stroke patients of the poorer district, and established that the prevalence of smoking, alcohol-consumption, and untreated hypertension is also higher in District 8. The “Six Years in Two Districts” project involving 4779 patients with a 10-year follow-up revealed higher incidence, case fatality and mortality of stroke in the less wealthy district. The younger patients of the poorer region show higher risk-factor prevalence, die younger and their fatality grows faster during long-term follow-up. The higher prevalence of risk factors and the higher fatality of the younger age groups in the socioeconomically deprived district reflect the higher vulnerability of the population in District 8. The missing link between poverty and stroke outcome seems to be lifestyle risk-factors and lack of adherence to primary preventive efforts. Public health campaigns on stroke prevention should focus on the young generation of socioeconomi­cally deprived neighborhoods. ]

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.