Topics

Cayston® and Pregnancy
Hello, Have we got data regarding Cayston® and pregnancy? Especially during the 1st 4 months? Thank you
11.05.2016
MUTATION c.1680-886A>G (remainder)
Hello, Thank you for your reply on the mutation c.1680-886A> G. It is therefore a splicing mutation and not a "nonsense" mutation. However, since due to reading frameshift it leads to a stop codon, can we assume that patients with this mutation would be eligibe to ataluren (PTC124)? Thank you in advance for your answer.
11.05.2016
MUTATION c.1680-886A>G
Hello, Could you give me information about the mutation c.1680-886A> G? Does it induce a stop-codon? Thank you in advance.
11.05.2016
Living at the seaside
Hello, Is living at the seaside providing any benefits or otherwise a risk of aggravation for a CF patient? Thank you
11.05.2016
Mild CF
Hello My daughter, 2 months old, has a positive genetic test with F508del and 5T abnormalities but sweat test has been negative; she has just been diagnosed as a mild form of cystic fibrosis... She will be followed in prevention every 6 months throughout her life ... Extremely rare cases apparently so few answers from the doctors ... But I'd love to know ... what will the future bring? Will the symptoms of the disease inevitably declare one day or another? Which precautions are to take? What risks are there? Will she be more fragile? Thank you in advance for your answer...
11.05.2016
French Registry
Hello, To a question I asked you about the mutation 3849 + 10 kb and neonatal screening you answered that 80 patients were carriers of this mutation and only 17 of them were detected by neonatal test. Were the other 63 patients false negatives because they were pancreatic sufficient? Thank you and best regards
11.05.2016
Bronchiectasis
Hello, I wanted to know if bronchiectasis causes death? Is that nowadays it cannot be treated relatively well? Thank you for your reply Best regards
06.05.2016
Colobreathe
Hello, I wanted to know the minimum interval for colobreathe? In my case, there is once a day or do I do it every 10h? Cordially
06.05.2016
Pulmonal damage
Hello, In case a child with CF can nearly never expectorate sputum after inhalation of 6% hypertonic saline, and also otherwise there are no problems with cough or the airways, can one then assume, that the lung is not as strongly involved by the CF? Is it true that there are in general two different forms of manifestation: on the one hand patients who show more a pulmonary involvement, but rather have few gastro-intestinal problems, and on the other hand those, who have a gastro-intestinal manifestation and few pulmonal problems? How is the damage of the lung exactly happening if there is no obvious mucus production in the lung, no "problematic germs" have been found and no (obvious) infections did occur? Can a consequent inhalation scheme (6% hypertonic saline and rh-DNAse) prohibit these lung damages or at least slow them down, if a patient inhales from birth on regularly? Many thanks for your time and advice!
06.05.2016
Physiotherapy, treatment of two CF patients one after the other
Hello, my question is about physiotherapy. The situation is acutally like this, that just after our child, another child with CF comes for therapy. This is happening like this: Our child is for 60 minutes in the treatment room, then it leaves the room and the other child is already waiting in the antechamber that is quite small. In this office there is only the treatment room and the waiting area in the antechamber. It is a flying change. I did not realize yet, that the therapeutic devices are disinfected. I do really not feel well in this situation, especially as the other child is coughing increasingly. I do not know this from our child and therefore I am worrying.... Unfortunately, there is nowhere another possibility, to get a CF physiotherapy. And furthermore it is in this office like this, that the physiotherapist is only working there for these two hours on that special day, as she is working full-time at a hospital. However, there, all out-patients have been "dissmissed". I would be pleased about your advice concering the germ problem. Many thanks.
06.05.2016
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