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[The rate of cerebral palsy (1-3/1000) is not diminishing, but the prevalence of athetosis seems to be decreasing. 234 athetosis cases (born 1972–1992) have been studied in Budapest (n=149) and in London (n=85) for birth weight, icterus, hypoxia and/or neonatal convulsion and epilepsy. The majority of athetosis cases were born with a birth weight above 2500 g. Kernicterus has not been found, but 43.3% (Budapest) and 75.3% (London) of the cases showed clinical signs of hypoxia with or without... tovább »
[The three most common types of childhood spinal muscular atrophy (SMA) are type I or Werdnig Hoffmann disease, type II or intermediate form, and type III or Kugelberg-Welander disease. The clinical features of these three types are characteristic, profound limb hypotonia, wasting of muscles and areflexia. All three forms of SMA reveal an autosomal recessive mode of inheritance. The gene responsible for all three types of SMA is located on the long arm of chromosome 5 in the region of... tovább »
[Development of 357 ventilated newborns born from January 1989 to 30 September 1996, who weighed 1500 gm or less at birth, was investigated in follow-up studies. Of the 357 infants, 9 died after one month of age. The outcome of 348 survivors was followed up by a team after the same protocol. Infants were divided into two groups according to year of birth. In the first four-year group, there were 168 children (from 1989 to 1992), in the second one there were 180 children (from 1993-1996). The... tovább »
[We examined the role of HMPAO SPECT examinations in presurgical evaluation of children with intractable partial epilepsy. SPECT studies (ictal, interictal) were performed on 31 children aged 1-18 years. The focus was restricted in 18 cases and extensive, ie, a whole hemisphere or some lobes, in 4 cases. SPECT indicated pathological changes in the relevant areas in 15 of 18 cases, but in 9 children with temporal epilepsy in all. The focus was extensive in 4 cases, e.g. in 3 children with... tovább »
[A report is given on 10 children suffering from ischemic stroke. In all children the ischemic lesions were confirmed by CT scans. The patients underwent both Digital Subtraction Angiography (DSA) and MRA. In five cases of stenotic or occlusive changes the MRA correlated well with DSA findings. However 3 cases of moyamoya disease, 1 case of arterial spasm and 1 case of stenotic change were not shown on MRA. MRA can be a valuable alternative method to DSA in occlusion of major intracerebral... tovább »
[Rett syndrome is a neurodevelopmental disorder that has been reported exclusively in females. It was first described by Andreas Rett in 1966. The disorder is characterized by a progressive loss of cognitive and motor skills as well as the development of stereotypic hand movements, occurring after an apparently normal 6 to 18 months of development. The aetiology of the syndrome is still unknown. Since genetic origin can be presumed we examined the potential gene sources of the Hungarian Rett... tovább »
Basic molecular genetics concepts. Basic concepts of non-traditional inheritance. The importance of Southern hybridisation and PCR techniques in the diagnosis of genetic diseases. The study of a gene in a specific disease. How to investigate inherited neurodegenerative diseases in children. Factors complicating the detection of a new transthyretin mutation (TTRAsp18Gly). The role of genetic testing in neurology. Structure of the genetic laboratory. Neurogenetic tests that can be performed... tovább »
Plusieurs anomalies génétiques ont été découvertes dans le neuroblastome: une délètion du bras court du chromosome 1, une amplification de l'oncogène N- myc et une absence d'expression du gène CD44. Ces altérations ont une valeur pronostique dans les formes localisées de la maladie et permettent d'améliorer le traitment: intensifier la chimiotpérapie pour les formes agressives, diminuer au contraire ce traitement pour les formes non agressives.
Clinical NeuroscienceCases of inborn errors of metabolism diagnosed in children with autism
Clinical NeuroscienceEvaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations
Clinical NeuroscienceElectrophysiological investigation for autonomic dysfunction in patients with myasthenia gravis: A prospective study
Lege Artis Medicinae[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]
Lege Artis Medicinae[Dear Reader! Greetings to the 30th anniversary of founding the LAM]
Clinical NeuroscienceRare complication of West Nile viral encephalitis
Clinical NeuroscienceAtypical presentation of late-onset Sandhoff disease: a case report
Clinical Neuroscience[Effective therapy in highly active pediatric multiple sclerosis ]
Clinical NeuroscienceParry-Romberg syndrome: is it a “relapsing-remitting” disease?
Clinical NeuroscienceElectrodiagnosis of ulnar neuropathy at elbow