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Autoimmune thyroiditis in children and the role of simultaneous Helicobacter pylori infection
Pomahačová, Renata ; Sýkora, Josef (advisor) ; Hníková, Olga (referee) ; Kalvachová, Božena (referee)
1. Summary The first aim of our study was to find out the present occurence of H. pylori infection in a group of children with juvenile lymphocytic thyroiditis (JLT) and to compare with the prevalence of this infection in a group of healthy children of the same age. The group of patients with JLT included 199 children (range 0-18 years). H. pylori infection was confirmed in 15 patients (7,5%) by a non-invasive diagnostic test of H. pylori antigen positivity in stools by the ELISA test using monoclonal antibodies (Amplified IDEIQA HpStAR ELISA, DakoCytomation, Glostrup, Denmark). This H.pylori positive group included 14 girls and 1 boy aged 11,2 ±2,3. 6 children had hypofunction of the thyroid gland, in 3 children was established the atrophic form of the thyroiditis with severe hypothyroidism with presence of myxoedema, the other children suffered from the hypertrophic form of the thyroiditis. 7 subjects underwent gastroscopy which confirmed chronic active gastritis. Only 3 children had gastrointestinal symptoms caused by H. pylori infection, the other children were asymptomatic. This finding confirms common information about asymptomatic development of H. pylori infection in children in 90% of cases. The control group included 1545 asymptomatic healthy children in range of 0-15 years of the same geographic...
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Determining the genetic cause of short stature as a way to understand the pathophysiological mechanisms affecting human growth
Plachý, Lukáš ; Průhová, Štěpánka (advisor) ; Zapletalová, Jiřina (referee) ; Pomahačová, Renata (referee)
Determining the genetic cause of short stature as a way to understand the pathophysiological mechanisms affecting human growth Abstract Short stature is one of the most common disorders followed-up by a paediatric endocrinologist. Pathophysiologic mechanisms leading to growth disorders are complex, however, the exact cause is mostly unknown. Our study is the first to evaluate the aetiopathogenesis of familial short stature (FSS). Using next-generation sequencing (NGS) techniques, we aimed to describe the monogenic aetiology of growth impairment in a group of FSS families, and therefore to elucidate mechanisms leading to this specific growth disorder. In selected genetic diagnoses, we additionally aimed to describe the phenotype including GH treatment response. Within Motol University Hospital centre for GH therapy, we formed a group of 98 FSS families with clear height definition in ≤-2 SD in both the child height before GH therapy and in his shorter parent. Using NGS, the FSS aetiology was elucidated in 40/98 (41%) families; 32/40 had a genetic growth plate disorder. Within the cohort, three genetically homogeneous subgroups of families were described (collagenopathies - 10/98 [10.2%] families, SHOX deficiency - 6/98 [6.1%] families, and C type natriuretic peptide receptor disorder - 4/98 [4.1%] families)....
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Autoimmune thyroiditis in children and the role of simultaneous Helicobacter pylori infection
Pomahačová, Renata ; Sýkora, Josef (advisor) ; Hníková, Olga (referee) ; Kalvachová, Božena (referee)
1. Summary The first aim of our study was to find out the present occurence of H. pylori infection in a group of children with juvenile lymphocytic thyroiditis (JLT) and to compare with the prevalence of this infection in a group of healthy children of the same age. The group of patients with JLT included 199 children (range 0-18 years). H. pylori infection was confirmed in 15 patients (7,5%) by a non-invasive diagnostic test of H. pylori antigen positivity in stools by the ELISA test using monoclonal antibodies (Amplified IDEIQA HpStAR ELISA, DakoCytomation, Glostrup, Denmark). This H.pylori positive group included 14 girls and 1 boy aged 11,2 ±2,3. 6 children had hypofunction of the thyroid gland, in 3 children was established the atrophic form of the thyroiditis with severe hypothyroidism with presence of myxoedema, the other children suffered from the hypertrophic form of the thyroiditis. 7 subjects underwent gastroscopy which confirmed chronic active gastritis. Only 3 children had gastrointestinal symptoms caused by H. pylori infection, the other children were asymptomatic. This finding confirms common information about asymptomatic development of H. pylori infection in children in 90% of cases. The control group included 1545 asymptomatic healthy children in range of 0-15 years of the same geographic...
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