Cognitive deficit is now considered to be a core feature of schizophrenia, which significantly influences psychosocial functioning in individuals with this illness. The aim of this study is to analyze the cognitive performance during the first year after the first episode of the illness and cognition related to psychosocial functioning. A total of 28 people hospitalized after the first psychotic episode of schizophrenia F20 according to ICD-10 participated in our study and underwent measurements of cognitive functions by the international MCCB battery. They were also evaluated by the PANSS (Scale of positive and negative symptoms) and PSP (range of personal and social performance). After one year from the first measurement for re-examination, 20 patients made an appearance. In 75% of the sample (n = 28), a cognitive deficit below 1.5 standard deviations below the normative average, i.e. below 35 T-score, was detected, at least in one of the measured domains. Speed of processing was the most impaired domain (T < 35), Reasoning and problem solving was the least attenuated domain (T > 40). The resulting analysis (paired t-test) showed a significant improvement one year after first-episode schizophrenia in domains Speed of processing (p = 0,018) and Reasoning and problem solving (p = 0,023). The...

Nowadays, an intelligence is a widely applied concept. The authors' opinions on its possible unification with or strict separation from the specific cognitive functions vary throughout different fields of psychology. Simultaneously, schizophrenia is a mental disorder, which is often connected to a cognitive deficit. Its assessment is usually realized on an estimation of the intelligence level. The aim was to explore how the estimation of intelligence corresponds with a cognitive profile of a patient with schizophrenia. This purpose is firstly being attained by a description of various views and theoretical objects, for instance core characteristics of a schizophrenia, a description of intelligence and selected cognitive functions. The empirical part is focused on an exploration of the relationship between a cognitive profile and the estimation of actual and premorbid intelligence of a patient with schizophrenia. A total of 120 persons with a diagnose F20 were included in this study. A cognitive profile was assessed with the usage of MATRICS battery and the intelligence levels were evaluated by selected WASI tests and Czech reading test (CRT). Results indicates that despite the level of premorbid and actual intelligence level was identified within the normal range, respondents evinced a cognitive...

(in English): Electroconvulsive therapy (ECT) is a very effective treatment procedure for patients with severe and treatment resistant psychiatric disorders. This Thesis deals with the impact of electroconvulsive therapy on cognitive function, specified as a measurement of cognitive function after electroconvulsive therapy, focusing on the monitoring of cognitive function, eventually their deficits with the passage of time after ECT. At several time points (T1 week after ECT completion; T2: 6-8 weeks after ECT completion) from ECT completion the progression of cognitive performance of patients was repeatedly measured. Respondents were divided according to their diagnosis (mood disorders groop and schizophrenia group). The groups were compared with each other. The aim of the Thesis is the observance of the cognitive changes in patients over time after electroconvulsive therapy. In the final stage 18 subjects were submissed into the study (10 women and 8 men). In terms of diagnosis 39% were diagnosed with the disease in the ICD category F20-F29; 33% were diagnosed with mood disorders (category ICD: F30-F39) and 28% were diagnosed with F06.3 organic affective disorder. The MCCB (MATRICS Consensus Cognitive Battery) was chosen as a method for data scan, it has very good psychometric properties also...

The perception is that inborn errors of metabolism (IEM) are rare, but the reality is that more than 600 lEMs are now recognized. The organic aciduria, 3-methylcrotonyl-CoA carboxylase (MCC) deficiency arises when 3-methylcrotonyl-Coenzyme A (CoA) carboxylase that participates in the fourth step of the leucine catabolism is defective. Tandem mass spectrometry (MS/MS) based screening programmes in North America, Europe and Australia, showed that MCC deficiency is the most frequent organic aciduria detected, with an average frequency of 1:50 000. Therefore MCC deficiency is considered an emerging disease in these regions. The incidence of MCC deficiency in the Republic of South Africa (RSA) is not yet known. However, one 48 year old male Caucasian individual (HGS) was diagnosed suffering from mild MCC deficiency, since elevated levels of 3-hydroxyisovaleric acid, 3- hydroxyisovalerylcarnitine, 3-methylcrotonylglycine was present in his urine. Several groups are currently working on various aspects of this emerging disease with the focus on the molecular characterisation of MCC deficiency. In the RSA no molecular based diagnostic method which complements MS/MS screening programmes have yet been implemented. Therefore, the aim of this study was to implement the necessary techniques for the molecular characterisation of MCC deficiency, the determination of the sequence of the open reading frame (ORF) of mccA and mccB subunits to determine which mutation(s) are present in the South African MCC deficient patient. For the implementation of the molecular characterisation, a two-pronged approached was used to characterize MCC of a MCC non-deficient individual (CFC). This approach included the reverse transcriptase polymerase chain reaction (RT-PCR) amplification of the ORFs of the associated genes [mccA (19 exons) and mccB (17 exons] and the PCR amplification of selected (genomic deoxyribonucleic acid (gDNA) regions (exons mccA8, mccA11 , mccB5, mccB6 and mccB5-intron 5-6 exon 6 (mccB5-6) which have been found to have mutations associated with MCC deficiency in Caucasians. The sequence analyses produced surprising results of the amplified ORFs (CFCmccA and CFCmccB) of the MCC non-deficient individual CFC. A non-synonymous single nucleotide polymorphism (SNP) (1391C→A, H464P) associated with MCC deficiency (Gallardo et al., 2001) was identified in the CFCmccA subunit. Another SNP (1368G→A, A456A) recently listed in GenBank was observed in the amplified CFCmccB ORF. No significant novel variations or described mutations were identified in the amplified genomic regions mccA8, mccA11 ,mccB5, mccB6 and mccB5-6. The implemented molecular approach was used to characterise MCC of our MCC deficient patient (HGS). The patient did not have any mutation in the four selected exons mccA8, mccA11, mccB5, mccB6 or the genomic region mccB5-6. The RT-PCR amplification of both ORFs (HGSmccA and HGSmccB) resulted in multiple amplicons. Gel extracted amplicons of the expected size were sequenced. Of the 36 exons, 34 exons were sequenced. This includes all 19 exons of HGSmccA and 15 of 17 exons of HGSmccB (exons 1-6 and exons 9-17). The non-synonymous SNP (1391C→A, H464P) detected in CFCmccA (MCC non-deficient individual), seems to be present in the HGSmccA subunit of the MCC deficient individual, HGS. The HGSmccB amplicons could not be entirely sequenced. However, the region exon 1-6 and 9-17 was sequenced but no described or novel mutations were identified. The lack of sequence data of region exon 7-8 led to an incomplete molecular characterisation of the MCC deficiency in HGS. In conclusion, the basic methods and techniques for the molecular characterisation of MCC deficient patients have been implemented locally. A few additional sequencing primers need to be designed to cover mccB7 and mccB8 as well as the entire coding and non-coding strands of each MCC gene (mccA and mccB). The primers for RT-PCR of both mccA and mccB need to be further refined to ensure better specificity. / Thesis (M.Sc. (Biochemistry))--North-West University, Potchefstroom Campus, 2007.

The perception is that inborn errors of metabolism (IEM) are rare, but the reality is that more than 600 lEMs are now recognized. The organic aciduria, 3-methylcrotonyl-CoA carboxylase (MCC) deficiency arises when 3-methylcrotonyl-Coenzyme A (CoA) carboxylase that participates in the fourth step of the leucine catabolism is defective. Tandem mass spectrometry (MS/MS) based screening programmes in North America, Europe and Australia, showed that MCC deficiency is the most frequent organic aciduria detected, with an average frequency of 1:50 000. Therefore MCC deficiency is considered an emerging disease in these regions. The incidence of MCC deficiency in the Republic of South Africa (RSA) is not yet known. However, one 48 year old male Caucasian individual (HGS) was diagnosed suffering from mild MCC deficiency, since elevated levels of 3-hydroxyisovaleric acid, 3- hydroxyisovalerylcarnitine, 3-methylcrotonylglycine was present in his urine. Several groups are currently working on various aspects of this emerging disease with the focus on the molecular characterisation of MCC deficiency. In the RSA no molecular based diagnostic method which complements MS/MS screening programmes have yet been implemented. Therefore, the aim of this study was to implement the necessary techniques for the molecular characterisation of MCC deficiency, the determination of the sequence of the open reading frame (ORF) of mccA and mccB subunits to determine which mutation(s) are present in the South African MCC deficient patient. For the implementation of the molecular characterisation, a two-pronged approached was used to characterize MCC of a MCC non-deficient individual (CFC). This approach included the reverse transcriptase polymerase chain reaction (RT-PCR) amplification of the ORFs of the associated genes [mccA (19 exons) and mccB (17 exons] and the PCR amplification of selected (genomic deoxyribonucleic acid (gDNA) regions (exons mccA8, mccA11 , mccB5, mccB6 and mccB5-intron 5-6 exon 6 (mccB5-6) which have been found to have mutations associated with MCC deficiency in Caucasians. The sequence analyses produced surprising results of the amplified ORFs (CFCmccA and CFCmccB) of the MCC non-deficient individual CFC. A non-synonymous single nucleotide polymorphism (SNP) (1391C→A, H464P) associated with MCC deficiency (Gallardo et al., 2001) was identified in the CFCmccA subunit. Another SNP (1368G→A, A456A) recently listed in GenBank was observed in the amplified CFCmccB ORF. No significant novel variations or described mutations were identified in the amplified genomic regions mccA8, mccA11 ,mccB5, mccB6 and mccB5-6. The implemented molecular approach was used to characterise MCC of our MCC deficient patient (HGS). The patient did not have any mutation in the four selected exons mccA8, mccA11, mccB5, mccB6 or the genomic region mccB5-6. The RT-PCR amplification of both ORFs (HGSmccA and HGSmccB) resulted in multiple amplicons. Gel extracted amplicons of the expected size were sequenced. Of the 36 exons, 34 exons were sequenced. This includes all 19 exons of HGSmccA and 15 of 17 exons of HGSmccB (exons 1-6 and exons 9-17). The non-synonymous SNP (1391C→A, H464P) detected in CFCmccA (MCC non-deficient individual), seems to be present in the HGSmccA subunit of the MCC deficient individual, HGS. The HGSmccB amplicons could not be entirely sequenced. However, the region exon 1-6 and 9-17 was sequenced but no described or novel mutations were identified. The lack of sequence data of region exon 7-8 led to an incomplete molecular characterisation of the MCC deficiency in HGS. In conclusion, the basic methods and techniques for the molecular characterisation of MCC deficient patients have been implemented locally. A few additional sequencing primers need to be designed to cover mccB7 and mccB8 as well as the entire coding and non-coding strands of each MCC gene (mccA and mccB). The primers for RT-PCR of both mccA and mccB need to be further refined to ensure better specificity. / Thesis (M.Sc. (Biochemistry))--North-West University, Potchefstroom Campus, 2007.

In majority of schizophrenia patients, from the first episode of psychosis throughout the entire span of the illness, a cognitive deficit is one of the core symptoms. Assessing cognitive performance with empirically based methods is a vital part of clinical practice. Until recently, Czech adaptations of the MATRICS battery (standardly used for assessing cognition in schizophrenia worldwide) and the Tower of London, ToL (a basic test measure of executive planning ability) were absent. The primary aim of this dissertation thesis was to provide these methods for research and clinical use in Czech professional environment. This goal was achieved with both ToL and MATRICS in two basic steps. Firstly, Czech adaptations of both tests were carried out, namely translation of test instructions and establishment of standard administration and scoring. Secondly, complex psychometric analyses were conducted for both tests, including validation of their Czech versions for the purpose of assessing cognitive impairment in schizophrenia. The results suggest that ToL is a suitable tool for recognising executive planning deficit in general as well as in schizophrenia patients specifically. Also, the planning ability in schizophrenia patients, as measured by ToL, is one standard deviation below average when compared...

The aim of this thesis is to simulate the action of electrodynamic forces on current carrying path and a movable contact of the circuit breaker OEZ Modeion BH 630NE. For the calculation there is used the simulation program Ansys Maxwell. The first part is devoted to theoretical analysis of electromagnetic forces on a conductor in a magnetic field. Further I discuss the constructional design of the circuit breaker itself, especially the current path and the contact mechanism. In the next part there is (with using program Autodesk Inventor) created a simplified 3D model of the current path including an arc chamber. With program Ansys Maxwell then there is performed simulation of the acting of forces in each mode. This is magnetostatic and transient analysis for symmetrical and asymmetrical flow of the fault current. In conclusion the results obtained are evaluated and processed in the tabular way.