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MR imaging and MR spectroscopy of human during physical stress (MR spectroscopy imaging, MR diffusometry, MR relaxometry etc.)
Šedivý, Petr ; Hájek, Milan (advisor) ; Haberlová, Jana (referee) ; Vymazal, Josef (referee)
The dissertation is concerned to in vivo phosphorus MR spectroscopy (31 P MRS) and 1 H MR imaging (MRI) of muscle in combination with physical workload. The theoretical part of the thesis describes methodology of 31 P MRS measurement and its clinical use in research of metabolic changes in diabetes, heart failure and peripheral artery disease (PAD). The results of the thesis are divided into methodical and clinical parts. Methodical results deal with the construction of experimental equipment, software modification and development, and show of the reproducibility of the dynamic 31 P MRS. The MRI after exercise was used to the describe involvement of the individual calf muscles to muscle contraction during pedal movement in MR compatible ergometer. The first part of the clinical results of the thesis describes changes in muscle metabolism during diabetes and critical ischemia. In patients with critical ischemia the effect of treatment by angioplasty or transplantation of mesenchymal stem cells was evaluated. In the second part of the clinical results the metabolism of patients with heart failure complicated by sideropenia was studied. In these patients the effect of experimental treatment by iron carboxymaltose was described.
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Clinical and elektrophysiology longitudinal study of children with hereditary neurophathy Charlot-Marie-Tooth type 1A
Haberlová, Jana ; Seeman, Pavel (advisor) ; Syka, Josef (referee) ; Ambler, Zdeněk (referee) ; Vondráček, Petr (referee)
Hereditary peripheral neuropathy, known asCharcot Marie Tooth disease (CMT) and with an incidence of 1:2500 -1:10 000, is the most common hereditary neuromuscular disorder. Type CMT 1A is the most common form of CMT refering to the group of primary demyelinitateing motor and sensory peripheral neuropathies. CMT phenotype is clinically characterized by chronic slowly progressive distal muscle weakness and atrophy with hypo or areflexia and mild to moderate acral sensory loss. The lower limbs are predominantly affected. The aims of this study were to describe the first and most common signs of CMT1A during the first decade of life, to characterize their progression, and evaluate the sensitivity of CMTNS (Charcot-Marie- Tooth neuropath scale) for CMT1A young children. Sixteen children aged 3 to 10 years with genetically proven CMT 1A were examined. All patients were clinically examined, underwent electrophysiological examination, and were scored by CMTNS. Eight were followed for up to two years. Our data shows that CMT 1A in children under the age of 10 years causes only a mild disability. Initial signs of CMT 1A were difficulty in heel walking (15/16, 93%) and lower limb hypo or areflexia ( 13/16, 81%). The test of heel walking can be easily used as a screening test for hereditary neuropathies in pediatrics....
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The effect of DMD gene mutation on the growth and development of muscle tissue
Paliesková, Anna Mária ; Knytl, Martin (advisor) ; Haberlová, Jana (referee)
Duchenne muscular dystrophy is one of the most frequent and very severe congenital myopathies, affecting mainly boys. The disease is caused by a mutation in the gene encoding the dystrophin protein. The gene is located in the muscle tissue cells on the inner side of the sarcolemma. Dystrophin provides a link between the actin filaments and the extracellular matrix. It is important for the proper functioning of muscles during contraction and relaxation. As explained in this thesis, the production of dystrophin is of critical importance already at the muscle tissue development stage. The DMD gene expression also affects the expression of the other genes which play a key role in the right development and growth of muscle tissue. Mutations in the DMD gene cause changes in the signalling pathway genes such as PKA, thus affecting the expression control of other genes. Mdx mice used in DMD studies show abnormalities at prenatal stages, which are manifested through wrong organisation of microtubules and location of muscular cell nuclei, and a general increase in the number of fast myosin fibres (FMyHC). The absence of dystrophin also has an adverse effect on the satellite stem cells. The signalling pathway required for the correct spindle apparatus orientation is damaged. The wrong orientation causes the...
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MR imaging and MR spectroscopy of human during physical stress (MR spectroscopy imaging, MR diffusometry, MR relaxometry etc.)
Šedivý, Petr ; Hájek, Milan (advisor) ; Haberlová, Jana (referee) ; Vymazal, Josef (referee)
The dissertation is concerned to in vivo phosphorus MR spectroscopy (31 P MRS) and 1 H MR imaging (MRI) of muscle in combination with physical workload. The theoretical part of the thesis describes methodology of 31 P MRS measurement and its clinical use in research of metabolic changes in diabetes, heart failure and peripheral artery disease (PAD). The results of the thesis are divided into methodical and clinical parts. Methodical results deal with the construction of experimental equipment, software modification and development, and show of the reproducibility of the dynamic 31 P MRS. The MRI after exercise was used to the describe involvement of the individual calf muscles to muscle contraction during pedal movement in MR compatible ergometer. The first part of the clinical results of the thesis describes changes in muscle metabolism during diabetes and critical ischemia. In patients with critical ischemia the effect of treatment by angioplasty or transplantation of mesenchymal stem cells was evaluated. In the second part of the clinical results the metabolism of patients with heart failure complicated by sideropenia was studied. In these patients the effect of experimental treatment by iron carboxymaltose was described.
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Effect of physiotherapy and AFO extension verticalization in patients with Duchenne muscular dystrophy
Jánská, Anna ; Haberlová, Jana (advisor) ; Zounková, Irena (referee)
Our research is focused on using orthotic devices in patients with Duchenne muscular dystrophy (DMD), particularly in the ambulant phase of the disease. DMD is the most common hereditary muscle disorder in childhood. The typical symptoms are progressive muscle weakness and contractures that lead to loss of ability of independent walking, typically among the age of 9 to 13 years. The theoretical part is focused on pattern of standing and walking in these patients, the posibilities of useing the orthotic devices in various stages of the disease, and on the problems of contractures and deformities. The other teoretical part of the work is devoted to certain physiotherapy interventions and to associated physical activities. The practical part of the research is based on assesment of effect of physiotherapy and use of the nigt orthesis AFO (Ankle- Foot-Orthesis) in group of 10 DMD boys in the average age 9,1 ± 2,7 years. All boys were examined before and after 6 month of therapy. In examinations the following tests were used: NSAA (North Star Ambulatory Assessment), BI (Barthel index) measurements of muscle strength by hand held myometr and measurement of PROM (passive range of motion). The practical part also includes analysis of questionnaire datas from 19 patients with DMD collected in year 3/2013, questions...
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Clinical and elektrophysiology longitudinal study of children with hereditary neurophathy Charlot-Marie-Tooth type 1A
Haberlová, Jana ; Seeman, Pavel (advisor) ; Syka, Josef (referee) ; Ambler, Zdeněk (referee) ; Vondráček, Petr (referee)
Hereditary peripheral neuropathy, known asCharcot Marie Tooth disease (CMT) and with an incidence of 1:2500 -1:10 000, is the most common hereditary neuromuscular disorder. Type CMT 1A is the most common form of CMT refering to the group of primary demyelinitateing motor and sensory peripheral neuropathies. CMT phenotype is clinically characterized by chronic slowly progressive distal muscle weakness and atrophy with hypo or areflexia and mild to moderate acral sensory loss. The lower limbs are predominantly affected. The aims of this study were to describe the first and most common signs of CMT1A during the first decade of life, to characterize their progression, and evaluate the sensitivity of CMTNS (Charcot-Marie- Tooth neuropath scale) for CMT1A young children. Sixteen children aged 3 to 10 years with genetically proven CMT 1A were examined. All patients were clinically examined, underwent electrophysiological examination, and were scored by CMTNS. Eight were followed for up to two years. Our data shows that CMT 1A in children under the age of 10 years causes only a mild disability. Initial signs of CMT 1A were difficulty in heel walking (15/16, 93%) and lower limb hypo or areflexia ( 13/16, 81%). The test of heel walking can be easily used as a screening test for hereditary neuropathies in pediatrics....
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The reduction in range of the dorsal flexion of the ankle joint as a symptom of children patients with CMT 1A
Judlová, Tereza ; Horáček, Ondřej (referee) ; Haberlová, Jana (advisor)
The diploma thesis "Decreased Ankle Joint Dorsal Flexion as Initial Symptom of Children with CMT 1A Disease" is concerned with Charcot-Marie-Tooth disease and its early symptoms in children. The theoretical part of the paper summarizes the knowledge about the CMT disease on the basis of a research of available literature and it particularly focuses on specific characteristics of the disease in children patients, initial symptoms of the disease, development of the disease in childhood and the importance of functional changes of the ankle join in patients diagnosed with CMT 1A disease. The experimental part of the paper analyses initial symptoms of ten children in age range from 3 to 10 years diagnosed with CMT 1A disease. The thesis further critically evaluates the heel standing test as an easy diagnostic method in the early stages of the CMT 1A disease available for children from three years of age. The research also includes qualitative analysis of initial symptoms and comparison of the experimental results with a control group. Powered by TCPDF (www.tcpdf.org)
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