Topics

Carriers screening
Dear Expert, In carriers screening, what is the preferred/recommended action when one of the parents has a known mutation that causes CF, and the other parent is negative to the standard 10 CF mutations panel (of his country). Please note, the mutation spectrum of the ethnic origin of the second parent is not well defined (there are no CF mutations that characterize his ethnic origin). Thank you and best regards,
10.07.2012
Plane tickets
We planned to go to Martinique for holidays but due to the medical exams of my CF son, a dangerous germ has been found. Therefore, a transfer to hospital is advised. Antibiotic treatment was recommended. Therefore, the trip is being questioned. Not having any insurance, the Company denies me any refund for the plane tickets. This situation could still arise in the future or should I give up any possibility of going on holiday? Thank you for answering me. G.
10.07.2012
progression of the disease
Hello I have a 7 months-old child with cystic fibrosis (homozygous F508del). To date, he has no respiratory problem and is doing well with the care he’s receiving (physiotherapy, pancreatic enzymes, vitamins, sodium…). Will it continue this way? Is there an age where the disease starts to evolve? Maybe when he will go to school and be in contact with virus? I’m a little lost since the diagnostic announcement. Thanks for your answer
10.07.2012
request for information on swimming pools
Hello, We have a CF boy of 8 years. Our friends are building a pool, they ask us what is the best treatment (solid or liquid chlorine, bromine or salt) for him. Can you tell us?
10.07.2012
Sequence of inhalation and sports
I have a question on the sequence of the therapy building blocks: I first use the Flutter®, since the mucus is rather easy to loosen in my case. Which sequence is more sensible afterwards: First inhalation (with Mucoclear® and colistin or Tobi®, respectively) and then sports? Or first sports and then inhalation? Thank you and kind regards.
10.07.2012
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 affected. Many thanks
10.07.2012
pseudomonas in swimming pools
may I allow my child to go swimming?
10.07.2012
cystic fibrosis and the use of air freshener
Is it safe to use an air freshener (in this case fabreeze®plugin) around the home
09.07.2012
394delTT and Ataluren (PTC124)
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 exon 4.
09.07.2012
p.Phe1078Ile
My one year daughter was diagnosed with CF a year ago because of malnutrition, sweat test borderline and single deltaF508 (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. The clinical picture of my daughter 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 she 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 daughter is the only person with c.3232t>a in the world?
09.07.2012
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