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Topics
- cf prospects
- I am pregnant and carry the c. 2758G>T(p.Va1902Leu/V920L mutation of the CFTR gene, while my husband carries in heterozygote state the c.902A>GCp.Tyr301Cys/Y301c mutation in exon 7. What are the chances of the baby having CF? Thank you.
- 25.05.2018
- combination of DF508/NM_0004923
- My husband and I were found to be carriers of CF mutations. I have the DF508 mutation, and my husband carries the ΝΜ_0004923 mutation. What happens in this situation? What are the chances for our child to have CF? Thank you.
- 11.05.2018
- Should we do a sweat test?
- My daughter is 19 months old, weighs 8.5 kg and is 76 cm tall. As you understand, we have nutrition issues. My eldest daughter is 5.5 years od and is pretty thin (15.5 kg). Our paediatrician has done some initial tests for the low weight issue and the results were good. She told us that the child need to have a sweat test because she has a history of episodes of bronchiolitis (stool and sweat are normal). I am very stressed. Do you think we should proceed with the sweat test?
- 11.05.2018
- DF5508 in heterozytoge status
- While testing for Down syndrome, the DF508 mutation was found in heterozygote status. We do not know if the parents carry any CF mutations. Can the child have CF?
- 11.05.2018
- CF mutations
- My husband and I were checked for the largest possible percentage of CF mutations during our genetic screening. I was found to carry the C.3154T>G mutation, possibly pathogenic, and my husband the C.2620-15C>G mutation, which is labeled as of unknown clinical significance, or as a polymorphism. I would like to ask if our child will suffer from CF, if it carries both mutations, or if it will have an atypical CF (what does this mean?), or if it will be healthy.
- 11.05.2018
- ADHD and CF
- Has research been done yet whether there is a correlation between ADHD and CF? Is there a link? For example regarding certain prescribed medications for CF?
- 11.05.2018
- Tapotage
- What are the latest insights about tapotage?
- 11.05.2018
- Dogs
- Dear expert team, a CF patient loves to go walking in the park with her dog. The question came up, if Pseudomonas can be transmitted from the dog's hair when the dog is running through mud an puddles.... Many thanks, for your help
- 11.05.2018
- Actinomyces odontolyticus
- Hello, the above mentioned germ has been found in the sputum, the throat swab was free of it. Should a treatment be initiated? Best regards,
- 11.05.2018
- Inhalation of 6% NaCl solution with eflow rapid
- Hello, The CF center told me, that they would not prescribe the eflow rapid nebulizer for our daughter, as it would not be suitable for the inhalation with 6% NaCl solution. In the product leaflet however, it says that 6% NaCl can be inhaled with the eflow, only the membrane has to be well cared for: immediately rinsing, two times a week backwash, after each inhalation disinfection. What do you think? Best regards,
- 11.05.2018
