Topics

Newborn screening and sweat test
Dear expert team, my daughter (18 month old) suffers from her 15th week of life on of chronic productive cough of unknown origin. Three weeks after the cough had started at that time, she got a long lasting bronchitis (RSV negative April 2013), that did not resolve. With the inhalation of ...
21.07.2014
Chance of CF for a fetus
Ι am in my 22nd week of pregnancy and the fetus was diagnosed with hyperechogenic bowel grade II. I did not have any bleeding during my pregnancy. After the recommendation of my gynecologist I did an amniocentesis and I and my partner gave a blood sample. The amniotic fluid and our blood was ...
03.06.2014
Possibility of CF - DF508 traced
Τhe embryo was found to carry the DF508 mutation. I and my husband were tested and it turned out that the DF508 mutation is also carried by my husband. We expect my results (95% of CF mutations checked). We were informed that in case I am found to carry one other mutation, the embryo must be ...
20.05.2014
Carrier of F1052V and husband negative for 90% of mutations
I am 17 weeks pregnant. During the 13th week of pregnancy I and my husband were tested for the 90% of CF mutations at Horemion Lab. Today I was informed that I carry the F1052V mutation, whereas my husband tested negative for the 90% of CF mutations. Do you thing that we should check the other 5% ...
20.05.2014
Mild CF mutation
I was tested for CF at Horemion Laboratory [Greece] and came up positive for a very mild mutation, which is considered neutral without pathological consequences. The geneticians, as well as my gyneocologist, told me not to worry and that it was not necessary for my husband to get tested because, ...
19.05.2014
Families with several CF people
Hello Are there families with several people with cystic fibrosis ? Thank you
14.05.2014
mutation
My 9-months-old daughter is homozygous for the c.489+1G>T mutation. Can you tell me more about her form of cystic fibrosis; how much is it widespread and severe? Thank you in advance for your answer.
12.05.2014
Amlexanox
Dear expert team, I got aware of the following publications: http://www.ncbi.nlm.nih.gov/m/pubmed/22938201/ and http://www.google.com/patents/EP2437741A1?cl=en I would like to know if there is any data yet concerning the correction of CF nonsense mutations? Respectively, if there are any ...
12.05.2014
Cystic fibrosis and beta-thalassaemia
Is there a chance for somebody to be a carrier of CF and beta-thalassaemia simultaneously? What is the correlation between the two and the chances/impact in having children?
12.05.2014
Splicing and stop codon
Hello, There are among the numerous cystic fibrosis mutations, nonsense mutations (stop codon) and splicing mutations. Some splicing mutations lead to the formation of a stop codon. Is it the case of the 1811+1,6 Kb A> G? Thank you for your answer.
05.05.2014
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