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The SHOX gene and clinical consequences of its defects
Klugerová, Michaela ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
The SHOX gene ("Short Stature Homeobox-containing Gene") was identified during research of genotype-phenotype corelations in patiens with Turner Syndrome. Absence one alele of this gene was the cause of short stature in these girls. Shortly after, mutations in SHOX gene were identified in patients with Léri-Weill and Langer syndrom, thus in patients with growth failure and skeletal deformities. It is estimated that mutations in SHOX gene or mutations in SHOX regulatory regions affect one in thousand of new born children. Mutations in this gene are one of the most common genetic causation leading to growth failure phenotype. However, the exact role of SHOX gene in bone growth and development is still unknown, therefore it is importnant to study problems with SHOX gene and try to discover mechanism of SHOX protein activity on molecular levels.
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Idiopathic short stature. Is it a disease?
Šneberková, Klára ; Zemková, Daniela (advisor) ; Sedlak, Petr (referee)
This bachelor thesis is focused on idiopatic short stature. Idiopatic short stature can be found at up to 80% of children, who suffer from grown diseases. It is a short stature without definite reasons. ISS is a very heterogenous group, which can be also described as children "short, but healthy". These children do have usual stature upon birth, no apparent chronic diseases, standard food intake, and they have no discoverable endocrinal disorders. Most of these children cna be divided into two groups. The first group consists of children with familiar short stature, the second group consists of children with constitutional delay of grown and adolescence. The combination of these two groups is the usual cause, why the parents of short children search a medical expert. This thesis is focused on the ISS as itself, on its subgroups, its treatment methods, especially on using growth hormones on the ISS and on ethical questions associated with this treatment. Another chapter is focused on genes associated with short stature - genes SHOX, ROR2 and NPR-B (or NPR2). The final chapter has also a few case reports. Key words: growth failure, growth hormone, idiopathic short stature, treatment, familial short stature, constitutional delay in growth and puberty.
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Idiopathic short stature. Is it a disease?
Šneberková, Klára ; Zemková, Daniela (advisor) ; Sedlak, Petr (referee)
This bachelor thesis is focused on idiopathic short stature. Idiopathic short stature can be found a tup to 80% of children, who suffer from growth disorders. I tis a short stature without definite reasons. ISS is a very heterogenous group which can be also described as children "short, but healthy". These children have normal length for gestational age at birth, normal body proportions. They have no sings of chronic disease, food intake andnutritional status are normal. There is no evidence of endocrine disorders. Most of these children can be divided into two groups. The first group consists of children with familial short stature, the second group consists of children with constitutional delay of growth and puberty. The combination of these two groups is the usual cause, why the parents of short children search a medical expert. This thesis is focused on the ISS as itself, on its subgroups, its treatment methods, especially on using growth hormones on the ISS and on ethical questions associated with this treatment. Another chapter is focused on genes associated with short stature - genes SHOX, ROR2, NPR-B (or NPR2) and ACAN. In the final part a few case reports will be mentioned. Key words: growth failure, growth hormone, idiopathic short stature, treatment, familial short stature,...
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The SHOX gene and clinical consequences of its defects
Klugerová, Michaela ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
The SHOX gene ("Short Stature Homeobox-containing Gene") was identified during research of genotype-phenotype corelations in patiens with Turner Syndrome. Absence one alele of this gene was the cause of short stature in these girls. Shortly after, mutations in SHOX gene were identified in patients with Léri-Weill and Langer syndrom, thus in patients with growth failure and skeletal deformities. It is estimated that mutations in SHOX gene or mutations in SHOX regulatory regions affect one in thousand of new born children. Mutations in this gene are one of the most common genetic causation leading to growth failure phenotype. However, the exact role of SHOX gene in bone growth and development is still unknown, therefore it is importnant to study problems with SHOX gene and try to discover mechanism of SHOX protein activity on molecular levels.
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