Topics

Nucleoitc change of unknown significance
I am 16 weeks pregnant and I was tested for 99% of CF mutations for purely preventive reasons, as there is no history of CF in my family, or in my husband’s family. The results showed the nucleotic change c.1001G>A (.Arg334Gin) in the CFTR gene in heterozygote condition and that there are not enough data from the literature concerning its pathogenic significance. What does this mean exactly? Am I a carrier of the CF gene? The recommendation was for my husband to get tested for the 99% of CF mutations. The results will come out in a month? What are the possible scenarios, if he is found to carry a mutation? Thank you!
09.02.2018
possibility for CF
I am a mother of two children. My second child has a persistent wheezing. We have had a full respiratory examination, an Xray and we did a sweat test with a result of 19.2. The first testing of the sputum reported pseudomonas, but not the second one. We were advised to have a genetic testing for CF. I was tested for df508 in my first pregnancy with negative results. Do you think my child has CF?
09.02.2018
bacteriophages
Dear reader, I have read interesting information about research on bacteropphages on Pseudomonas aeruginosa. Is this a study that is going on in Europe? http://www.ampliphibio.com/product-pipeline
09.02.2018
pseudomonas bacteria
Dear reader, My brother-in-law has installed an electric humidifier in his house. He has to replace the water every month (this is stagnant water). The water is NOT heated but is still on the floor (room temp.). Does it give more risk for the Pseudomonas bacteria? My son has CF. His visits are rather monthly than daily. Thank you for the advice!
09.02.2018
CF diabetes sugar replacement
Hello, what is your opinion about the sugar replacement "bio sweetener" - can a patient take it without risks (if he can afford it...)? Thanks
26.01.2018
B. Dolosa
If two siblings have CF and B. dolosa and one of them is getting a lung transplantation, is there a risk for the sibling who had a transplantation because of B. dolosa and the other sibling who had no transplantation? Are there any research results, we could get information from? Many thanks
22.01.2018
Stenotrophomonas maltophilia and sweat test
I have a baby girl, 11 months old. She had secretions and we visited the pediatrician, an ENT doctor and a pneumonologist, we had a chest an xray and sputum cultures. The only finding was Stenotrophomonas maltophilia. We will do a sweat test. During my first pregrancy I was tested for CF mutations with negative results.
19.01.2018
Carrier of CF mutation
I am 34 years old at 21st gestational week. I am a carrier of r75Q after checking for 85% of CF mutations. My husband was checked for 99% of CF mutations and he was found to carry S977C (unknown clinical importance). The genetist expert advised us not to proceed to amniocentesis, since the mutation I carry, when combined with another typical CF mutation, in a worst-case scenario would lead to CF with only mild symptoms. I would like to ask if you agree with his opinion/assessment?
19.01.2018
Genotype 7T
I am 12 weeks pregnant and have been checked for CF mutations (47 mutations). The results were negative for the most frequent mutations (46 mutations). The sample shows the genotype 7T/7T at position IVS8 polyT in the CFTR gene. Is it something I must worry about? My spouse has not been tested. Must he? Thank you in advance!
19.01.2018
Clarification plant in the neighbourhood
Hello, does a clarification plant in the neighbourhood (about 500m linear distance) represent a health risk in case of CF? Can bacteria be transmitted only via direct contact and aerosols or also via smell? Many thanks in advance
08.01.2018
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