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508 r117h T5
My grandson has recently been diagnosed with CF. His details are 508 and r117h T5. Sweat test 47. What cf symptoms will develop? Also - what medication will be available in the near future which may address the symptoms? Thank You
10.11.2013
FIBROSIS QUISTICA
TEACHER. MY GRANDDAUGHTER OF YW 1282X F508, heterozygous 16 MONTHS SHE IS WELL Clinically, BUT HIS FIRST GAVE EXUDATE PSEUDOMONAS. INTRAVENOUS TREATMENT IS IN. THE MUTATION??
06.11.2013
nueva medicacion
hola en que instancia esta el lanzamiento de kalydeco para delf508 homocigota mutacion de clase 2 . y heterocigota del f508 y g1282 x m gracias jorge argentina
31.10.2013
Daughters CF test
We recently received a "presumptive positive" result for our newborn daughter's CF test, with a result of "Heterozygous (R117H, 7T/7T)" and an IRT level of 52. Having read a little about this specific mutation, it seems possible that she might simply be a carrier, and may never show symptoms. Can you please clarify for me: what does Heterozygous (R117H, 7T/7T) indicate?
06.06.2013
R117H 7T/7T Heterozygous
Hello - MY 2-week old daughter is Heterozygous R117H 7T/7T. What are her risks of having CF? IRT is low, and sweat test is coming next week. Thank you.
06.06.2013
R117H
My husband was recently diagnosed positive for one copy of the R117H mutation (R117H heterozygote, homozygous for 7T). He was negative for the 5T variant. We plan to have genetic counseling. What exactly does this mean for him and for us if we have children?
13.04.2013
pseudomonas treatment
Dear ECORN Experts, I have a 5 years daughter. Here where I live we do not have a cf specialist so we go to another country for controls. She was diagnosed with cf at 1 one month. Her sputum test came back positive for PA for the first time on January this year. We started therapy oral ciprofloxacin 4 weeks and inhaled colistin untill she had three negative sputum tests. Since the results were ngative we stopped inhaling colistine, but in July the sputum test was again positive. We did oral cipro for 6 weeks and again started inhaling colistine. Than in September it was again positive and now she will be on oral cipro for 3 months and continue inhaling colistine. Our dr told us that she has to be on inhaled colistine for all her life. I was reading another treatments and I see that sometimes the I.v. therapy is recommended. Do you think that we should maybe try I.V. therapy before deciding to put her on lifelong colistine, because we are buying it and it is becoming very hard for us? thank you in advance
16.10.2013
genetics
what means c.2183AA>G Thank you
02.08.2013
Welcome 00
Are Ataluren the benefit of all cases of muscular dystrophy or limited to only Duchenne and Becker? If so is there another drug handling other cases of muscular dystrophy? I hope so Heard that Ataluren is perhaps approval from before inguinal Union in the beginning of the year 2014? Is this true I hope so because I might I can not wait for 2015 or 2016 that many Please reply quickly because I am a bit concerned
08.10.2013
Borderline sweat test results/genetic testing
Hello, I am a woman of English descent living in Finland and my family has a history of cystic fibrosis. I have a history of nasal polyps, recurrent pancreatitis, recurrent sinus infections and intestinal ileus. I also have a fatty liver and pancreas divisum. My gallbladder was removed because of sludge in 2001. I had recurrent bronchitis and pneumonia as a child, but my respiratory symptoms have since disappeared. I discussed the possibility of atypical cystic fibrosis with a doctor in Finland, and she reluctantly allowed me to take a sweat test. The result was 44, which they consider completely normal here in Finland (anything under 60 here is normal, and only results over 80 are considered affirmative). They refuse to do any genetic testing. Is it possible to travel to another country for genetic testing? Thank you.
19.10.2013
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