OBJECTIVE: To study the frequency and spectrum of CFTR gene variants in different ethnic groups of Kazakhstan. METHODS: We reviewed the records of 58 patients with cystic fibrosis. All the patients underwent molecular genetic analysis to reveal genotype-phenotype correlations. RESULTS: The median (IQR) age of the patients was 5.4 year (7 months, 18 year); 40% were diagnosed at the age of 5-10 year. The study identified 28 specific variants: p.Phe508del, the variant most common in the European population, was detected in 30 patients (51.7%). Variants other than p.Phe508del were revealed in 31% (21 patients). CONCLUSIONS: We found a number of specific variants characteristic of the Kazakhstani population. A pronounced regression of disease symptoms was detected in patients with mild mutations; whereas in patients with severe mutations, therapy produced very little effect.
- MeSH
- cystická fibróza * epidemiologie genetika MeSH
- genotyp MeSH
- lidé MeSH
- mutace MeSH
- protein CFTR * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Kazachstán MeSH
This pilot study investigated the efficacy of a four week robot-assisted gait training in twelve children with spastic diparesis. Short-term results and a 3-month follow-up showed statistically significantly increased selective motor control, walking farther distances, gross motor score, and decreased joint contractures.
- MeSH
- chůze (způsob) MeSH
- dítě MeSH
- lidé MeSH
- mozková obrna * MeSH
- pilotní projekty MeSH
- robotika * MeSH
- terapie cvičením MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
We administered oral ibandronate (once a month) to 7 children (6 boys) with low bone mineral density and prevalent low energy fractures. We observed a significant increase (17%) in bone density after one year and additional 3% increase after second year. No further fractures occurred.
- MeSH
- akademický sbor lékařské fakulty MeSH
- kurikulum MeSH
- pediatrie výchova MeSH
- studium lékařství pregraduální * MeSH
- studium lékařství specializační postgraduální * MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Československo MeSH
