Topics

Mycobacteria
Hello, My 6 year old son just had a sputum culture that shows the presence of mycobacteria. I wished to have more information on this germ and whether my son will have this germ all the life as I gather that it is resistant to antibiotics. Also I'd like to know where is the research regarding its mutations G542X and 1811 + 1.6kba> G Thank you in advance for your response.
03.12.2014
L227R mutation
Hello, From a strict physiological point of view, what is the impact of the substitution of Leucine at position 227 to Arginine? Can the different physicochemical properties of those aminoacids explain the dysfunction of the CFTR protein? There is very little documentation about it. Could you enlighten me?
03.12.2014
Dimension of premises
Hello, I have to outline plans for premises of a CF Center. I will use the existing premises. I need to know if there are standards to meet especially for CF premises or if it can be similar to usual consulting rooms: - Consultation room - Physiotherapy room - Multipurpose room (meeting room) - Nursing Office - Reception and waiting room Thank you for your help
03.12.2014
c.4251delA
Hello, I previously posted a message to know the impact of the 4472delT mutation. Actually I got confused because my son is a carrier of this mutation on the SAMD gene, not on the CFTR gene for that he is c.4251delA homozygous. Please remove my previous question please. What would the impact of this mutation?
03.12.2014
Borderline values for CF
We had a baby boy two months ago in Thessaloniki and the baby was tested for metabolic diseases (blood from the heel on a paper). Two days ago the clinic called for a retest for metabolic diseases. Our doctor said it was nothing to worry about because the value was 62 instead of 60 and it 99.9% we should not worry about CF. What do you think?
03.12.2014
Mucoclear® (hypertonic saline)
Hello, Is RhDNase (Pulmozyme®) more efficient than hypertonic saline (Mucoclear®) ? I have observed that nebulization of hypertonic saline induced more sputum in my son. It’s really efficient for him in term of fluidity. He feels well cleared. Tolerance is excellent. Therefore the physiotherapist of the CF centre said that a maximum of 3 nebulizations per week would be enough because of a possible irritation. I don’t understand why this treatment has to be limited as tolerance is excellent in my son and benefice is evident ?
03.12.2014
Question about diagnosis in adults
Since childhood my husband had problems with the lungs. He had pneumonia several times. He now has COPD gold 3 and a bunch of unclear symptoms such as problems with his liver, joint pain, a pre stage of diabetes,... I have lately noticed that he tastes/sweats very salty. I wonder if CF should be considered? I already asked his pulmonologist because our daughter had many lung problems, and from research we know she is a carrier. The pulmonologist thought it was of no concern. Is it something to discuss and to insist on further research? And if yes: does a sweat test in adults say something or not? Because I read that this test is often unreliable.
03.12.2014
Failure to thrive
Dear expert team, our daughter (6-years old, CF) refuses any high-caloric additonal food. She has a normal lung function, is stable without infections and very active. Unfortunately, she is often estimated to be 2 years younger, as she is only 106cm high and weighs only 15 kg. She is going to school next year and we ask ourselves, what else can we do, in order to finally achieve a good height and weight (if possible without PEG). Or is it acceptable (in case of stable general condition) to let it go as it is? Gaining weight was difficult from the beginning on in spite of quite normal eating behaviour and appetite. We enrich the food. Can there be other reasons for the failure to thrive? Best regards,
03.12.2014
Infection in case of CF, even once possible without antibiotic?
Dear expert team, my question: Can/should/is it allowed for a child with CF to get through an infection with increased cough even once without the intake of an antibiotic? There are controversing opinions about this. Some of the doctors advise immediately an antibiotic drug, others are rather for waiting, if the general condition during the infection (and of course also before) is good. Could there be possibly any long-term consequences if the child goes once through an infection without antbiotics, say if it thus coughs strongly once in a wihle for 14 days? Or are there any long-term consequences, if it gets antibiotics always with any cough (resistances...)? Many thanks for your opinion.
03.12.2014
Dental prosthetist
Hello, What do you thing about a dental prosthetist vocational high school diploma? 16-year-old patient, partial lobectomy in 2006, FEV1 near 74 %, persistent hemoptysis, embolism 4 times. Infected with Achromobacter. Patient little observing in sequential cure (every 3 months). There is a section of being a prosthetist helped by computer but it would represent only 10 % of the activity of a prosthetist (That can evolve within 3 years, that is the date when he is supposed to have his diploma) Thank you for your future answer.
03.12.2014
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