We are moving from Callifornia to Florida. Will the new humidity lead to the boys becoming ill on our arrival?
R668C and M348K mutations
Good morning, my husband has the R668C mutation (he is carrying the atypical form of CF) and I have the variation M348K. My cousin has the mutations M348K and S912X and he is healthy, but his son has the classical form of CF with the mutations delta508, S912X, M348K. Which are the risks that me and my husband have a baby with the classical/atypical form of the disease? Thank you, best regards
Lab Equipment
HI I have a son with CF. We are trying to improve facilites etc in the regional CF Centre. I have come across some info on a piece of lab equipment for detecting bacteria in sputum and blood samples. It seems the results are available within 24hrs. Have you come across the "MALDI TOFF" psuedomonas results etc can be picked up within 24hours, this information I feel for a CF patient would be of great benefit. Would you have any idea as to the cost of such a piece of equipment. Thanks
my sun 10 ag has duchin musquler dystrophyl please haw can I get the ptc 124
Sweat Test Result
I have read data regarding the sweat test for CF and at an approved centre I believe a result over 60 confirms the diagnosis of CF. Can you tell me please if the higher the figure has any relation to the effect of the disease? For example if the sweat test results with a child over 8 months was in the 80's and another child's result was 100+ does this mean anything specific other than there has been a definite diagnosis? Thank you for reading and hopefully answering this.
delta F508 and G542X
My son has delta F508 and G542X .Can you tell me anything about children with cf with the above genes and how they are effected. Many thanks
pseudomonas in swimming pools
may i allow my child to go swimming?
cystic. fibrosis
Is it safe to use fabreeze plugin around the home?
394delTT and Ataluren
My two children (aged 6 months and 2.5 years old) have cystic fibrosis and one of their mutations is the class I frameshift mutation 394delTT (a.k.a., the scandinavian mutation). 394delTT encodes a stop codon in axon 4. Is it possible that Ataluren (by supressing the stop codon) could enable the production of partially or fully functioning CFTR?
My one year daughter was diagnosed with cf a year ago because of malnutrition, sweat test borderline and single Df508 (ex 11 CFTR). Direct sequencing test revealed another absolutely new mutation - p.Phe1078Ile (or c.3232t>a) in exon 20 cftr - which has never been described in any database before. I was told that it is not clear whether with this mutation - c.3232t>a - the cftr function is abolished or residual. It is also not clear whether this mutation is desease causing or not. This mutation was not found in 110 unrelated CF chromosomes and that is how the dx was confirmed genetically. The mutation has been entered into cftr database after that. Anna's (my DD) clinical picture is unclear: slightly elevated IRT level, sweat test - one negative and one borderline, fluctuating level (high-low) of potassium in serum (low level of potassium is considered as pseudo-barter syndrome - which may be an atypical presentation of CF), plus some vomiting and malnutrition in the past (but all these things are quite common for new babies), she doesn't need enzymes. Other things went quite well. We are doing all treatments and preventive measures - and Anna is doing like a normal 1 (almost 2) y.o. girl (without CF). Have you ever seen p.Phe1078Ile before? Can you please point me in the direction of some resources for p.Phe1078Ile by itself, or in conjunction with single DF508? Is it a rare missense mutation or it is a different category this mutation falls into? How this can be that my DD is the only person with c.3232t>a in the world?
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