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Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation

100%
Kabzinska D., Kotruchow K., Ryniewicz B., Kochanski A.
Acta Biochimica Polonica
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2011
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tom 58
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nr 3
 In contrast to mutations in the coding sequences of a genes involved in the pathogenesis of Charcot-Marie-Tooth disease (CMT), little is known about CMT phenotypes resulting from a DNA variants located in regulatory sequences of a given " CMT gene". Charcot-Marie-Tooth type X1 disease (CMTX1) is caused by mutations in the GJB1 gene coding for an ion channel known as connexin, with a molecular mass of 32 kDa (Cx32). Only 0.01% of the GJB1 gene mutations have been reported in its 5' regulatory sequence. Pathogenic mutations occured in the internal ribosome entry site (IRES) are extremely rarely reported in human genetic disorders. To the best of our knowledge, in this study we report for the first time in an Eastern European population, two CMTX1 families in which two pathogenic mutations in the 5' regulatory sequence of the GJB1 gene (c.-529T>C and -459C>T) have been found. The two mutations identified in our study disturb the 5' UTR sequence in two different ways, by affecting the transcription factor SOX10 binding site (c.-529T>C) and by the disrupting IRES element of GJB1 gene (c.-459C>T). These regions are responsible for transcription (SOX10) and initiation of translation (IRES), respectively. On the basis of our findings that, in contrast to the most DNA sequence variants reported in untranslated regulatory regions of genes, the c.-459C>T and c.-529T>C mutations remain pathogenic in the context of different ethnic background.
2
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How accurate is spirometry at predicting restrictive pulmonary impairment in children with myasthenia gravis

88%
Zielonka T., Kostera-Pruszczyk A., Ryniewicz B., Korczynski P., Szyluk B.
Journal of Physiology and Pharmacology. Supplement
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2006
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tom 57
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nr 4
409-416
Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction. Clinical symptoms are caused by weakness and increased fatigability of various muscle groups. Myasthenia may lead to significant respiratory dysfunction. The aim of our study was to estimate lung function in children with MG. We tested 23 non-smoking patients (18 girls and 5 boys) aged 7-18 years. Whole-body plethysmography and spirometry were performed in all patients. In 33% of the patients a decrease in VC <80% of predicted value was observed (VC = 89 ±19%), but the analysis of TLC revealed restrictive pattern only in one patient (TLC = 102 ±17%). In more than 75% of the children the value of RV above 120% of predicted value was found (RV = 146 ±54%). Spirometric obstructive pattern measured by FEV1%VC <70% was not observed, although in 56% of the patients airway resistance was increased (Raw = 132 ±44%). In 45% of the patients a decrease of PEF (76 ±14%) was observed. In MG children true restrictive pulmonary impairment is rarely observed and a decrease in VC in these patents seems to result mainly from functional restriction provoked by an increase in RV. Spirometry is not an optimum method to assess functional changes in MG patients. The assessment of additional measures such as TLC, RV, and Raw is desirable.
3
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The Diagnostic yield of automatic EMG analysis in neuromuscular diseases

76%
Hausmanowa-Petrusewicz I., Rowinska-Marcinska K., Emeryk-Szajewska B., Ryniewicz B., Kopec A., Kopec J., Szmidt-Salkowska E.
Acta Physiologica Polonica
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1988
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tom 39
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nr 1
Hausmanowa-Petrusewicz, I., Rowińska-Marcińska, K„ Emeryk-Szajewska, B„ Ryniewicz, B„ Kopeć, A., Kopeć, J. and Szmidt-Saikowska E.: The diagnostic yield of automatic EMG analysis in neuromuscular diseases. Acta physiol, pol., 1988, 39 (1): 11—19. The aim of the study was to evaluate the diagnostic yield of automatic EMG analysis employed in differentiating normal from diseased muscle and myogenic, neural and spinal lesions. The material comprised 520 patients with neuromuscular diseases. Only diagnostically confirmed cases were included into the study. The control group comprised 51 healthy subjects. In all patients and healthy subjects routine EMG examination was performed by means of both the conventional technique and automatic method. On the basis of the statistical analysis of the material the authors concluded that the method of automated EMG using the Polish minicomputer Anops makes possible distinction of the main types of pathological processes affecting the muscles with higher than previously objectivity and reliability. They stress, however, the important role of the examiner and his experience.
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