Congenital amusia-pathology of musical disorder.

Amusia also known as tone deafness affects roughly 1.5% population. Congenital amusia appears from birth and lasts over life span.

Red ear syndrome - case report and review of literature.

Red ear syndrome is characterized by: paroxysmal, unilateral, recurrent pain, redness and discomfort of the ear lobe accompanied by a burning sensation. The duration and frequency of red ear syndrome attacks is very various and the episodes, usually occur spontaneously. The pathophysiology is still unknown and also there are no medications with approved efficacy.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent mutation was confirmed and ten new ATM variants were detected.

Bilateral facial nerve palsy in the course of neuroborreliosis in children-dynamics, laboratory tests and treatment.

Purpose: Presentation of four patients with bilateral peripheral facial nerve palsy as a clinical manifestation of neuroborreliosis in children--diagnostic, treatment and prognosis.

Material And Methods: In 2002-2004 in The Chair and Department of Developmental Neurology, 24 children from the Wielkopolska region were admitted with diagnosis of borreliosis. Among all the children with borreliosis, confirmed by serologic examination, 4 (16.

[Diagnostic value of sleep deprivation as the EEG activation method in diagnosis of epilepsy in developmental age].

The paper presented the significance of EEG activation in diagnosing epilepsy in children and adolescents. EEG records of 108 patients between 3-19 years of age with the occurrence of various types of paroxysmal disorders who were admitted to Chair and Department of Developmental Neurology University of Medical Sciences in Poznań were analysed. Standard EEG was administered to all children twice: the first examination at rest with hyperventilation (HV) and photostimulation (FS) and the second one after total or partial sleep deprivation (DS).

[Molecular-genetic characteristics of mutations in dystrophin gene and clinical symptoms in Duchenne muscular dystrophy].

The purpose of this paper is the estimation of the interrelationship of molecular findings with clinical studies on Duchenne muscular dystrophy (DMD), the estimation of molecular genetic findings efficiency focused on the diagnosis and the prognosis and carrier detection in relatives with recommendation of prenatal diagnosis possibilities. DNA isolated from peripheral blood lymphocytes of 100 patients was examined. DNA analyses was performed by multiplex PCR for promoter and 21 exons of DMD gene in regions where mutations are most frequent.

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique mutations were identified in 21 patients. Mutations were found in 7/13 (54%) TSC1-linked families, 1/22 (5%) small families without linkage, and 13 of 126 (10%) sporadic cases.

[The Landau-Kleffner syndrome. SPECT and EEG investigations].

Four children (three boys and one girl) with acquired epileptic aphasia (the Landau-Kleffner syndrome) have been observed in the Department of Developmental Neurology University of Medical Sciences in Poznań. We present the dynamic of clinical symptoms and fluctuations in EEG studies. The changes in the brain in single photon emission computed tomography (SPECT) during remission of clinical symptoms are discussed.

[A case of multiple neoplasm metastases to the brain with few clinical symptoms].

In the reported case 74 malignant metastases were found in the brain. The primary tumour was a bronchogenic carcinoma. The clinical symptoms were scant and were restricted mainly to those produced by involvement of the pons without evidence of intracranial hypertension.

The effect of ethylmercury-p-toluenesulphanilide on the neurosecretory hypothalamic-hypophyseal system.

The effect of Ethylmercury-p-toluenesulphanilide on the neurosecretory function of the hypothalamic-hypophyseal system has been studied. The p-toluenesulphanilide of ethylmercury is a pesticide with fungicidal properties. The poison has been administered intragastrically for 10 days at a daily dose of 4 mg.

Morphology and histochemistry of the thalamus in the course of intoxication by ethyl-mercury-p-toluenesulphanilide (EMTS).

Organic Mercury compounds are known for their neurotoxicity. From our previous studies it appeared that a variable degree of damage is brought about in the individual structures of the CNS by ingestion of organic mercurials. A detailed study was undertaken on the histotopography of pathological changes occurring in the thalamus - the major integrator of various cerebral functions - following intragastric administration of EMTS, a fungicide widely applied in agriculture.

Histoenzymatic changes in the thalamic nuclei of rats intoxicated by phenyl-mercury acetate (PhMA).

The effect of ingestion of phenylmercury acetate (PhMA), a fungicide of wide agricultural application, on the histoenzymatic pattern of the thalamic nuclei was investigated. It has been shown that in rats administered via a gastric tube with 8 mg of PhMA for 10 consecutive days, a considerable drop of AChE, BuTJ, acP and ATPase activities in many thalamic nuclei was found. Beside the inhibition of many enzymes, TPPase and NsE activities were increased.

The effect of intoxication by ceresan on the activity of phosphatases and esterases in the rat thalamus.

The effect of Ceresan (Methoxyethylmercury chloride) on the histoenzymatic pattern of the thalamus was studied. The experimental animals were treated intragastrically with 100 mg of Ceresan for 6 consecutive days, and the activity of various hydrolases of the thalamus was investigated histochemically. Ingestion of large doses of Ceresan caused widespread alterations in activity of the thalamic hydrolases.

Changes in the activity of hydrolytic enzymes in the brain of rats intoxicated by ethyl-mercury-p-toluene-sulfanilide.

A histochemical study concerning the activity of phosphatases and esterases of the brain has been undertaken in rats experimentally intoxicated by the fungicide ethyl-mercury-p-toluenesulfanilide (EMTS). The results have shown that compared with other mercury compounds, both organic and inorganic ones, such as corrosive sublimate and calomel, EMTS proved to be a less induced of alterations in the activity of cerebral hydrolases. The brains of animals intoxicated by EMTS revealed a notable decrease of ATP-ase and acid phosphatase activity as well as a moderate drop of AChE activity.

Cerebral changes in the course of intoxication with mercury phenylacetate.

A histoenzymic study of cerebral phosphatases and esterases was performed on rats subjected to experimental intoxication with mercury phenylacetate. Following intragastric application of mercury phenylacetate to experimental animals, decreased activities of cerebral ATPase, acP and AChE were observed. The intoxicated animals displayed enhanced cerebral TPPase and partially also NsChE activities.