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Effect of genotype on selected clinical features of Polish cystic fibrosis adults

100%

Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.

Journal of Applied Genetics

2001

vol. 42

issue 3

367-377

Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.

Evidence for differentiation of arousal and activation in normal adults

88%

VaezMousavi S. M., Barry R. J., Rushby J. A., Clarke A. R.

Acta Neurobiologiae Experimentalis

2007

vol. 67

issue 2

179-186

'Arousal' at a particular time has been defined as the energetic state at that moment, reflected in electrodermal activity and measured by skin conductance level. In contrast, task related 'activation' has been defined as the change in arousal from a resting baseline to the task situation. The present study, replicating some aspects of a previous investigation of these ideas in children, aimed to further explore whether the separation of 'arousal' and 'activation' was useful in describing state effects on the phasic Orienting Response (OR) and behavioral performance. A continuous performance task (CPT) was used with normal adults. It was found that the magnitude of the mean phasic OR to targets was dependent on arousal, but not on task-related activation. A performance measure (reaction time) improved with increasing activation, but not with arousal. These findings support our previous suggestions concerning the value of conceptualizing arousal and activation as separable aspects of the energetics of physiological and behavioral function.

Arousal and activation effects on physiological and behavioral responding during a continuous performance task

75%

VaezMousavi S. M., Barry R. J., Rushby J. A., Clarke A. R.

Based on previous work indicating different neural substrates, two aspects of energetic state, 'arousal' and 'activation', have been conceptualized separately in our laboratory. 'Arousal' has been defined as the energetic state at any particular time, and task-related 'activation' as the task-related change in state from resting baseline to the task situation. Both are reflected in electrodermal activity and measured by skin conductance level. Our previous studies in this area have indicated that physiological responses to stimuli in a task are dependent on the arousal level at the time of stimulus presentation, rather than the task-related activation. In contrast, performance on the task is dependent on the task-related activation, rather than the current arousal level. That is, different aspects of the individual's state determine physiological and behavioral responses. Those studies had examined between-subjects differences in arousal and activation. The present study investigated the relevance of this separation in an across-subjects examination of fluctuations in arousal and activation, and their effects on physiological and behavioral responses, during a continuous performance task. It was found that the magnitude of the phasic orienting reflex to the targets during the task was dependent mainly on arousal, rather than task-related relative activation. Reaction time improved with increasing relative activation, but not with arousal. These findings support our earlier conclusions relating to the usefulness of arousal and activation as distinguishable features of the energetics of physiological and behavioral functions.

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2 Acta Neurobiologiae Experimentalis

1 Journal of Applied Genetics

2 2007

1 2001

2 Barry R. J.

2 Clarke A. R.

2 Rushby J. A.

2 VaezMousavi S. M.

1 Majka L.

1 Mlynarczyk M. W.

1 Mlynarczyk W.

1 Nowicka A.

1 Nowicka N. A.

1 Pogorzelski A.

1 Pogorzelski P. A.

1 Rutkiewicz E.

1 Rutkiewicz R. E.

1 Witt M.

1 Witt W. M.

1 Zebrak J.

1 Zebrak Z. J.

Search results

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

Evidence for differentiation of arousal and activation in normal adults

Arousal and activation effects on physiological and behavioral responding during a continuous performance task