Clinical Neuroscience

[The role of PCR in the diagnosis of duchenne/becker muscular dystrophy]

FODOR Flóra1, MECHLER Ferenc1, DIÓSZEGHY Péter1, ÁDÁNY Róza1

MAY 20, 1993

Clinical Neuroscience - 1993;46(05-06)

[The majority of Duchenne/Becker muscular dystrophy (DMD/BMD) cases are caused by deletions affecting exons of the dystrophin gene, which results in defective protein synthesis. In order to detect deletions the multiplex PCR method was utilized on the DNA of 15 DMD/BMD patients by amplifying 9 deletion-prone exons as a first step followed by a further 5 exons when necessary. Delection were found in more than 50% of patients by this method which correlates well with that expected from the literature data. This rapid and reliable method is an important diagnostic tool in the precise characterization of muscular dystrophies.]


  1. Debreceni Orvostudományi Egyetem Klinikai Kémiai Intézet és Ideg- és Elmegyógyászati Klinika



Further articles in this publication

Clinical Neuroscience

[New data in the classification, diagnostic and in the therapy of cerebrovascular diseases]

NAGY Zoltán

[High stroke morbidity and mortality in Hungary have focused to attention on stroke prevention and the organization of adequate therapy. Up till 1990 both cardiovascular and the cerebrovascular mortality had increased. The Precise analysis risk factors' determines the primary and secondary stroke prevention. The most important issues in of prevention are: proper care of hypertension, gradual change of dietary habits of the Hungarian population, and reduction of smoking. The revised stroke classification, published in 1990 suggested the further breakdown of ischemic strokes into embolic, atherothrombotic and lacunar forms. The new categories reflect the pathomechanism, and thus help in planning more successful treatment. The early treatment of embolic stroke with thrombolysis looks promising, thrombolysis in lacunar stroke implies a certain amount of risk. Hemodilution and dehydration therapy in the treatment of different forms of ischemic strokes need to be evaluated differently. Both invasive and non-invasive diagnostic examinations follow a well thought out algorithmic pattern. Since thrombolysis is a possible therapeutic choice, laboratory tests, especially the analysis of hemostatic factors have gained more significance.]

Clinical Neuroscience

[NMDA antagonists: possible kinetic and neuroprotective effect with special regard to parkinson's disease]

TAKÁTS Annamária

[The role of excitatory amino acids in the pathomechanism of several neuropsychiatric disorders became known in the last few years. Special attention is paid to glutamate, since this has proved to be an excitotoxin under certain pathological conditions. It acts through the ion-channel of the NMDA receptors via enormous Ca++ ion flow into the cell. NMDA antagonists may be of importance in the treatment of Parkinson's disease, which is characterized by increased glutamate hyperactivity. The clinical use of adamantane derivatives might be suggested because of their possible symptomatic and neuroprotective effect.]

Clinical Neuroscience

[Arteriovenous malformation and occlusive cerebrovascular disease]

BODOSI Mihály, KUNCZ Ádám, DÓCZI Tamás, BARZÓ Pál, VÖRÖS Erika

[Five rare case histories of intracranial occlusive cerebrovascular disease with arteriovenous malformation are presented. In 2 cases the middle cerebral artery and in a further 2 cases the internal carotid artery were occluded (3 ipsilateral frontal and 1 parietal angiomas). In the fifth case a temporal angioma and ipsilateral posterior cerebral artery occlusion was detected. In the first 4 cases extra-intracranial arterial bypass was performed before the excision of the malformation. ]

Clinical Neuroscience

[Fibrinogen as a general risk factor in stroke ]


[Fibrinogen and other laboratory variables of 348 patients with various types of stroke were statistically analysed in the acute, subacute and chronic stage of the disease. Seventy two patients with non-vascular disease served as control. The actual level of plasma fibrinogen in cerebrovascular patients was attributed to the following factors: 1. presence of atherosclerotic plaques in extra and intracranial arteries, 2. the time lag between the onset of stroke and laboratory testing, 3. degre of post stroke mobility of the patients. Initial level of fibrinogen is a predictive value of death both in hemorrhagic and ischemic patients. The highest plasma concentration of fibrinogen was found in the atherothrombotic stroke group, in which was a significant negative correlation between the plasma fibrinogen and high density lipoprotein level. It was concluded that fibrinogen is a risk factor in cerebrovascular diseases.]

Clinical Neuroscience

[Solitary osteochondroma presenting as a neck mass with spinal cord compression and central cervical cord syndrome]

BALÁS István, VARGA Sabján Márta, DÓCZI Tamás

[Osteochondromas are rarely the cause of spinal pathology and neurological dysfunction. A case of cervical osteochondroma with spinal cord compression and central cord syndrome is reported, and the pathological, clinical and radiological features are discussed with a brief review of the literature.]

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Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

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Clinical Neuroscience

[The role of sleep in the relational memory processes ]

CSÁBI Eszter, ZÁMBÓ Ágnes, PROKECZ Lídia

[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

Lege Artis Medicinae

[Diagnosis and treatment of microvascular coronary heart disease. Specialities of conditions in Hungary]


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[Association between cyclothymic affective temperament and hypertension]


[Affective temperaments (cyclothymic, hypertymic, depressive, anxious, irritable) are stable parts of personality and after adolescent only their minor changes are detectable. Their connections with psychopathology is well-described; depressive temperament plays role in major depression, cyclothymic temperament in bipolar II disorder, while hyperthymic temperament in bipolar I disorder. Moreover, scientific data of the last decade suggest, that affective temperaments are also associated with somatic diseases. Cyclothymic temperament is supposed to have the closest connection with hypertension. The prevalence of hypertension is higher parallel with the presence of dominant cyclothymic affective temperament and in this condition the frequency of cardiovascular complications in hypertensive patients was also described to be higher. In chronic hypertensive patients cyclothymic temperament score is positively associated with systolic blood pressure and in women with the earlier development of hypertension. The background of these associations is probably based on the more prevalent presence of common risk factors (smoking, obesity, alcoholism) with more pronounced cyclothymic temperament. The scientific importance of the research of the associations of personality traits including affective temperaments with somatic disorders can help in the identification of higher risk patient subgroups.]