Topics

Room Temperature
What is the BEST room temperature for a person with CF?
08.04.2014
Can NaCL infusion help CF patients
Dear Sir/Madam, I am a mother of a child with CF. Maybe my question is stupid as I do not have medical background, but I am wondering can usage of Na Cl infusion through the blood once a week help CF patients in term of bringing salt through the blood into lungs, pancreas, stomack, etc.? This might help nutrition and braking up the mucus or not?
08.04.2014
infant cf treatment with colistin and food diversification
Dear doctors, My 4 months old daughter has been diagnosed with cf one month ago. I would kindly like to ask for your opinion for the following: -she cultured positive the second time with E-coli in a tracheal aspirate. We tried to eradicate with inhaled gentamicin (5 days) and oral biseptol (3 days) for the first time without any success. Now her doctor recommended inhaled Colistin for one month. 1.Is this current procedure for cf infants to be recommended Colistin? Sounds agressive. I am not convinced of the need for this particular case, therefore my concern. E-coli in our case is very sensitve to a lot of other antibiotics on the antibiogram. 2.Is e-coli dangerous, does it predict future contamination with Pseudomonas Aeruginosa as SA does? Thank you, A.
08.04.2014
genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to know if there is any possibility to repeat this genetic test (for free?), for G551D mutation. Is the Ivacaftor treatment available in Romania? I know it is very expensive and it is used in the UK, USA, for G551D mutation.
08.04.2014
sweat test
Hello, We have a little boy, 2 years and 6 months old. From the age of two years, when he starts going in the kindergarten, he starts to get colds. In October he had an adenotomy. We have done the genetic test for 32 CF genetic mutations, but it was negative. I want to do a sweat test but now he is under homeopathic treatment including Teucrium Marum and nux vomica 9CH and 30 ch (recommended by a homeopathy specialist). It is possible that the sweat test result will be influenced by these substances? Thank you,
08.04.2014
Pseudomonas aeruginosa
Hello, My 3 old-year daughter is colonized with Pseudomonas aeruginosa for 1 year. She is treated by intravenous antibiotics (ceftazidime + tobramycine) every 3 months. May the Pseudomonas aeruginosa become resistant to this treatment ? If yes, how long is it to be resistant? In case of resistance, is it life-threatening? Thanks for your response.
08.04.2014
Aspergillas
What is the recommended medical treatment to get rid of mold in someone's lungs with CF
07.04.2014
CARRIER PARENTS
Is it correct , that if one parent is not a carrier of the cf virus so to speak that the child can not possible have cf? and is that 100% correct ?
07.04.2014
Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter my husband and I are considering taking the 'carrier test'. We've been told we would each be tested for 40 mutations. My question is: Do you know if these 40 would be the same common mutations which are part of the 50 looked for in the heelprick test on newborns? If so would you think it pointless for us, because our grandson must have had a clear newborn result as our daughter wasn't informed otherwise. Please can I have your answer as soon as possible, as my son has recently announced that he and his wife are expecting a baby in September and she would obviously have to undergo the relevant tests during her pregnancy should CF be found in our family. Thank you so much for your time. Sincerely, Anxious Granny
07.04.2014
Diagnosis CBAVD and PID
Dear expert team, due to the diagnosis azoospermia of my husband we have been sent to genetic counselling. Suspected diagnosis: translocation. Result of the molecular genetic investigation of my husband: for the intron 8, the allele combination 55/7T has been found. Therefore, the suspicion of a CBAVD (= Congenital bilateral absence of the vas deferens) caused by CFTR mutation could have been confirmed with the investigations we had (test procedure: INNO-LiPA CFTR17+Tn Update und INNO-LiPA CTFR 19; in my case: no mutation in the CFTR gene could be detected (chromosome Region 7q31.2)). Interpretation of the result: future children from our partnership have a remaining risk of 0.125% to suffer from a mild form of CF. Otherwise we have a normal chromosomal result (he: 46XY, me:46,XX). So far, so good. Now our center for reproductive medicine urgently recommended us to have a PID (preimplantation diagnostics) done before the transfer of the ovocyte/embryo. We are insecure, for does the above mentioned result (apart from the rest risk of 0.125%) bears an increased risk for carrying also genetic mutations for illnesses like Huntington's chorea, ß-thalassämia, cystic fibrosis, adrenoleucodystrophia (Addison-Schilder-syndrome), sickle-cell anemia, hemophilia A + B, retinitis pigmentosa, spinale muscle atrophy, Wiskott-Aldrich-syndrome, 21-ß-hydroxylase-deficiency, morbus Charcot Marie Tooth (neural muscular atrophy), myotonic dystrophia (morbus Curschmann-Steinert), Marfan syndrome, Duchenne muscular dystrophy, Becker muscular dystrophy, osteogenesis imperfecta, Torsion dystonia, Lesch-Nyhan-syndrome (hyperurikosis)? How do you judge the foray of our center for reproductive medicine? My husband is 45 years old, and I am 36 years old, we did not have any miscarriages or the like, yet, because no pregnancy so far. Besides that my husband has CBAVD, he does hardly show clinical symptoms of CF. From time to time husky bronchi or constipation. We are looking forward to your opinion and a quick answer. Many thanks!
25.03.2014
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