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Topics
- Pulmozyme®
- Hello, we have started Pulmozyme® (rh-DNAse) a few months ago for our child. For me it was an unnecessary treatment because of my child's excellent health status (no secretion and very few antibiotics). I relalize that his condition has deteriorated since. New bacteria have appeared. I have some questions: - Is it a coincidence? - Does Pulmozyme® has "unmasked" these bacteria? - Does the Pulmozyme®, by fluidizing the bronchus, not only prepare a favorable ground for certain infections? - Is it always necessary to treat all children with Pulmozyme®? Is this for statistical purposes? Why is this treatment offered to a child with good health? Thank you for helping me to understand. Regards
- 02.07.2013
- Mild hyperechogenic bowel
- I am 31 years old and did the second level ultrasound. It was concluded that the fetus has a mild hyperechogenic bowel. I was told the same thing for my first child 4 years ago. I had an amniocentesis and the baby was normal. What do you suggest I do?
- 02.07.2013
- Hyperechogenic bowel
- I am 30 years old and pregnant with my first child. I had the second level ultrasound and the doctor detected a hyperechogenic bowel. All the tests till now were good, but I was informed that the possibility for Down syndrome had risen from 1/19194 to 1/6398. The doctor said it may not mean anything, or that the fetus might have swallowed some blood, but we did a blood test for CF. He told me in order to exclude with certainty the possibility of a chromosomic anomaly we have to do an amniocentesis, but this prospect frightens me. Is it wise to do the amniocentesis?
- 02.07.2013
- Chimney
- Does the smoke that escapes from the chimney of a wood stove (checked by a chimney sweeper) can do more harm to a CF patient than the usual environmental pollution? Do you have any experiences?
- 02.07.2013
- Costs of genetic tests
- Hello what are the costs of genetic testing for the identifcation of mutations (common & rare)?
- 02.07.2013
- Transplantation
- Hello, A friend (24 years) will get liver and lung transplantation. I would like to know his survival chances. What are the risks? And in the long runs?
- 02.07.2013
- Number of mutations searched for genetic counselling of parents
- Hello, Once the child has been diagnosed with CF, could you tell me which kind of test is used and how many mutations are sought in the parents blood sample withdrew to check the mutations in a genetic counselling?
- 02.07.2013
- Lung function declined
- [The original German question was asked in telegraphic style - this is also reflected in the translation] Hello, I am 38 years old and have CF. Since about half a year my lung function has declined. FEV1 35% and alltogether about 50%. The MRT does not show any decline. Oxygen is normal (97%). I have candida a. in the lungs and take Fluconazole. And often strong breathlessness. My question – can lung function become better. Or [do I have] also asthma?
- 01.07.2013
- 8 year-old girl with aquagenic keratoderma syndrom (follow up)
- I asked about your opinion on my 8 year old daughter with Aquagenic keratoderma syndrome that appeared 6 months ago. Sweat test is 26 (performed 2 months ago). We have just received the results of the genetic blood test, which is negative for the 32 CFTR mutations studied in France today. By cons it is stated that there is the presence of the polymorphism 7T. What do you think, should my daughter should she consider the results in searching of the entire CFTR mutations? Thank you.
- 01.07.2013
- MRGN (multi-resistant gram-negative rod-shaped bacteria)
- Dear ladies and gentlemen, after 3 years, there has been a renewed finding of Pseudomonas in my son (23 years old). 10.000 - 100.000 Pseudomonas (mucoid stem) with the warning, it was a 4MRGN-stem (multi-resistant gram-negative rod-shaped bacteria against 4 main antibiotic groups). Sensibility still only to piperacillin, tobramycin and colistin. Would you in this case recommend a combinded oral and inhalative therapy or an intravenous therapy? Many thanks in advance for your efforts, Yours sincerely, S. A.
- 01.07.2013








