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The growth of Czech patients with achondroplasia and the possibilities of predicting the growth of individual body segments
Anýžová, Tereza ; Zemková, Daniela (advisor) ; Moslerová, Veronika (referee)
Introduction: Achondroplasia is the most common bone dysplasia. It is caused by mutations in the FGFR3 gene, which is involved in regulation of proliferation and maturation of chondrocytes on the growth plates. Activating mutation results in impaired endochondral ossification and a wide range of symptoms: severe growth disorder with limb shortening, macrocephaly with risk of hydrocephalus, mid-facial dysplasia, sleep apnea, narrowing of the spinal canal, increased risk of respiratory complications, and airway inflammation. The current rapid technological development has led to a better understanding of the processes of epiphyseal growth cartilage, thus enabling the development of new drugs for the treatment of this disorder (modified CNP, soluble FGFR3, meclozine). Nevertheless, current treatment is primarily symptomatic. It is very important to have a growth patterns of patients with achondroplasia who have not been affected by any growth promoting treatment (prolongation surgery, growth hormone). Objectives: The aim of this study is to evaluate the growth of Czech patients with achondroplasia, to compare our data with the world-wide used data by Horton et al. (1978) and the current data by del Pino et al. (2018). The next aim was to verify the accuracy of the multiplier method of final height...
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The growth of Czech patients with achondroplasia and the possibilities of predicting the growth of individual body segments
Anýžová, Tereza ; Zemková, Daniela (advisor) ; Moslerová, Veronika (referee)
Introduction: Achondroplasia is the most common bone dysplasia. It is caused by mutations in the FGFR3 gene, which is involved in regulation of proliferation and maturation of chondrocytes on the growth plates. Activating mutation results in impaired endochondral ossification and a wide range of symptoms: severe growth disorder with limb shortening, macrocephaly with risk of hydrocephalus, mid-facial dysplasia, sleep apnea, narrowing of the spinal canal, increased risk of respiratory complications, and airway inflammation. The current rapid technological development has led to a better understanding of the processes of epiphyseal growth cartilage, thus enabling the development of new drugs for the treatment of this disorder (modified CNP, soluble FGFR3, meclozine). Nevertheless, current treatment is primarily symptomatic. It is very important to have a growth patterns of patients with achondroplasia who have not been affected by any growth promoting treatment (prolongation surgery, growth hormone). Objectives: The aim of this study is to evaluate the growth of Czech patients with achondroplasia, to compare our data with the world-wide used data by Horton et al. (1978) and the current data by del Pino et al. (2018). The next aim was to verify the accuracy of the multiplier method of final height...
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Spectrum of FGFR3 gene mutations in hypochondroplasia
Janoušková, Simona ; Křepelová, Anna (advisor) ; Baxová, Alice (referee)
Hypochondroplasia (MIM 146000) is a skeletal dysplasia characterized by disproportional dwarfism with rhizomelic or mesomelic shortening of the upper and lower extremities, with variable severity. Patients often have macrocephaly with normal facial features. Hypochondroplasia is a disease with autosomal dominant inheritance. In some patients it is caused by germline mutations in the FGFR3 gene, in others the cause of the disease remains unknown . The FGFR3 gene encodes a tyrosine kinase receptor. This receptor negatively regulates the conversion of cartilage to bone. FGFR3 gene mutations that cause hypochondroplasia lead to constitutive activation of the receptor and inhibit the growth of long bones. In this study, we analysed selected regions (exons) of the FGFR3 gene in 98 patients with disproportional dwarfism and clinical diagnosis of hypochondroplasia. Eighteen patients from 12 families had familial and 80 patients had sporadic form of the disease. All patients were previously tested negative for frequent germline mutations in exon 13 (codon 540) and exon 15 (codon 650). Genomic DNA was isolated from patient's peripheral blood leukocytes. The examination was conducted with the informed consent of the patient or his legal representative. We performed mutational analysis by direct sequencing of...
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Supportive therapy with dog´s assistance as a part of the coherent physiotherapy for the physically disabled person
BAUEROVÁ, Monika
ABSTRACT The use of animals as man{\crq}s helpers or companions is as old as domestication itself. Contact with an animal, if accepted positively by the person, relaxes, slows down heartbeat and lowers blood pressure, releases tension, intermediates communication, compensates for missing abilities of people. Canistherapy as a supporting rehabilitation method contributes to the relaxation of muscle spasms, development of fine and gross motor skills, stimulates verbal and non-verbal communication, orientation in space, enhances motivation to participate in one{\crq}s own healing process, and improves the client{\crq}s interaction with other clients and nurses. The theoretical part of the Bachelor thesis is dedicated to the definition of canistherapy within comprehensive rehabilitation of people with a motor apparatus disability. Particular attention is paid to the issue of individuals affected by cerebral palsy and achondroplasia. The goal of the Bachelor thesis is to determine the influence of a dog-assisted therapy on people with a motor apparatus disability. A partial goal is to define the standing and position of a dog-assisted therapy within integral comprehensive rehabilitation of the client. The research is mainly focused on the use of the Animal Assisted Therapy method. Qualitative techniques of data collection were used within the research part of the Bachelor thesis. The following data collection techniques were used: anamnesis, observation (kinesiology examination), secondary data analysis and photo documentation. Results of the action of AAT method canistherapy prove in different areas a positive influence on both monitored clients permanently living in a diagnostic social care institution. The research was carried out in a client suffering from a quadriplegia form of cerebral palsy and in a client with achondroplasia. Casuistries of both mentioned clients describe the way of dog assisted therapy conduct, progress and results.
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The Problems of People of Small Stature, Affected by Achondroplasia and Pseudo Achondroplasia in Normal Life Situations
BLÁHOVÁ, Vendula
The work deals with the problems of people of small stature, affected by achondroplasia and pseudoachondroplasia, current life situations. The theoretical part is characterized by achondroplasia, pseudoachnodroplasia, health problems of people of small stature, their education, employment, the barriers, difficulties and limitations in their lives. Furthermore describes the socio-legal sphere in the Czech Republic and the civic association Palecek. The practical part contains the research. Objective research is focused on the problems of people of small stature in everyday life. People of small stature are confronted with various problems on the street, at school, at work, in finding a partner, in shops etc.. Various obstacles, restrictions or problems must be tailored, to address or overcome.
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