Topics

Diagnostics in case of diabetes
Hello, which test is used to diagnose a diabetes in CF at the moment? In the past, glucose tolerance tests have been performed regularly to me, now not anymore for years. When I pointed that out in the CF center, I have been told that today one would prefer the HbA1c value, as it would be more conclusive in case of CF. Now I found some articles, which come to the exact opposite conclusion and a yearly performed glucose tolerance test is recommended. What is right, then? Many thanks in advance!
25.10.2011
Genetic testing of the parents recommended - why?
We recently got the results of the genetic testing of our baby - two different mutations. Now it says at the end, that a genetic testing of the parents, including counselling is recommended. Why? Actually it is clear, that she must have one mutation from me and the other from my husband. Is it important from whom she has which one? Does this have a consequence for a further pregnancy?
25.10.2011
G542X & 2183AA mutations
I have an 8 months old baby with CF with the above mutations. What can I expect in the future from these mutations? From what I read on the Internet i am scared, but my baby looks just a normal one. When do the problems begin?
25.10.2011
Bacterial density in sputum : is it reliable ?
Hello, What does the density of bacteria found in the sputum mean (result given by the microbial laboratory versus the lung reality)? And then, when extrapolating, is a variation of the bacterial density (increase or decrease within 6 months for instance) representative of the amount of bacteria into the bronchi? Is this density a scientific criterion for deciding a intravenous antibiotics course, inhalative therapy or other strategies? Thanks for your response.
10.10.2011
Nasal polyps
Dear expert team, Our daughter - 3.5 years old- has been diagnosed with CF in december last year. Her main problem are nasal polyps. These have been operated in december last year (removal of a massive endonasal polyposis, preparation of a large window in the maxillary sinus with the middle nasal duct and removal of polypoid material from the maxillary sinus). 4 to 6 weeks after the operation the polyps reoccured in the original extent. Since then breathing through the nose is totally excluded. Until now the treating physicians have not been able to cope with this problem. Our daughter is treated for about 4 weeks with Triamcinolon nasal spray. No improvement until now. We do not want a further operation been done to our daughter at the moment (if possible). We are afraid, that also a second operation would not be sucessful for a longer period of time. Which kind of therapeutic options are there yet resp. could you propose to us? Are there any specialists in the area of Krefeld (Germany) who are specialized in problems with nasal polyps of CF patients or who are experienced? Many thanks in advance.
10.10.2011
bronchitol®
Hello, could you please tell me if inhalative bronchitol® (dry powder of mannitol) is already available in Germany? Many thanks
10.10.2011
stenotrophomonas maltophilia
To which hospital can one address to?
10.10.2011
CF yes or no?
Hello, my son (19 weeks old) has had a sweat test 3 times and it was pathologic 3 times. Now the final result of the genetic analysis is still underway. However, I got an intermittend report: Mutation 2183AA>G (HGVS- Nomenklatur: c.2051_2052delAAinsG,Exon 14, CFTR-Gen) in heterozygous form, as well as 33 further frequent mutations: G85E, 394delTT, R117H, 621+1G^T,711+1G^T, 1078delT, R334W, R347P, R347H, A455E, I507del, F508del, V520F, 1717-1G^A, G542X, S549R, S549N, G551D, R553X, R560T, 1898+1G^A, 2183AA^G, 2184delA, 2789+5G^A, 3120+1G^A, R1162X, 3659delC, 3849+10kbC^T, 3876delA, 3905insT, W1282X, u. N1303K Unfortunately, I did not get a real explanation in the hospital, and the appointment in the CF-center is still a bit away. I only know, that the genetic analysis is not finished, yet. The pancreatic elastase is about 500. At the moment his weight is stagnant, however we already have been 2 times in hopsital as he decompensated. His skin is extremely salty. I have once learned (I am physical technical assistant) that 2 genes have to be found, however I have no much knowledge about genetics. Can it be that he has CF even if we have the assurance only for 1 gene? And how long does a genetic analysis take? The arrival of the sample was the 26.07.11. Many thanks for your answer, H. 31.08.11 --addition from the ECORN-CF team: Before the answer to the above question we got the following additional information: "Many thanks for your efforts. We know by now, that he has CF. The mutations 2183AA>G and L206W have been found in compound heterozygousity. Now I have a new question: Is this a frequent combination or is it known in such a way that one can say something to the course of the illness? I am of course aware of the fact that there are always variations. Greetings, H.
10.10.2011
Heterozygous mutation F508del with deletion exon 17a and b
Dear ladies and gentlemen, is there any research about the above mentioned mutations? Could VX770 be also helpful here? What does the above mentioned mutation mean? We have been told that our daughter (1 year) will be with the utmost probability compound heterozygous. Many thanks for your answer in advance
10.10.2011
Clinical trial in aromatherapy
Thank you Madame Ronayette for your answer, which raises another one: why the topic of aromatherapy is not currently investigated in clinical research? (I think including massage application, in addition to conventional treatment)? Does medical education in France today includes sessions on this topic ? Thank you in advance.
10.10.2011
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