Topics

Function of correctors for stop mutations
Dear ladies and gentlemen, I would like to know, how exactly the correctors (e.g. Lumacaftor) are acting on stop mutations on the molecular genetic level. Are those synthetic tRNAs that bind to the wrong stop codons? I would be pleased if you could explain the function of the corrector molecule to me. Many thanks and best regards.
16.04.2016
Does an ICM (intestinal current measurement) make sense?
Dear ladies and gentlemen, there is an adolescent patient, who has had a sweat test result in the borderline area at a CF center and in a second experienced CF center the sweat test results were as well in the borderline area (chloride concentration in the sweat with pilocarpine ionotophoresis) and whose sequence analysis of the CFTR gene as well as a TEPD measurement were normal. Nevertheless, the pediatrician is suspecting the illness of CF, not in the "classical sense" (there is no pancreatic insufficiency underlying), because of the picture of the illness (frequent infections, frequent bronchitis, permanent production of sputum (also in infection-free periods), loss of energy, unwanted weight loss (in the mean time underweight), biliary reflux gastiritis) - does it in your opinion make sense, to have in the end also an ICM (intestinal current measurement) done, in order to safely exclude the illness of CF? The CF center says it is through with the topic CF. As in this center they also thought of a possible PCD (primary ciliary dyskinesia), a high-frequency video-microscopy had been done there, which had to be controlled. We have been sent to an experienced university hospital, that is investigating PCD at the moment, however according to them, it is not very probable that a PCD is underlying. Now a gastro-esophageal reflux has been diagnosed (via pH measurement) and an anti-reflux operation is considered. I emphazise, that we have been very content everywhere. My questions arises only from the sorrows that are caused by the long illness history of my child . Many thanks for your answer.
16.04.2016
Fat and Creon
Hello Our 22-months-old CF child takes 12 to 13 Creon capsules per day and yet his stools are fairly fat or even very fat. We have always been advised to enrich the diet but actually it only increases the amount of fat in stools. Can there be an increase in the Creon safely or we will have to review his diet? Are oily stools giving pain to the child? Thank you.
08.04.2016
Childhood diseases
Hello, My 3.5-year-old son started school in September and since he had 5 ear infections, laryngitis, some colds, a little bronchitis, gastro ... his cough occurs almost daily (with ups and downs, sometimes the day, sometimes the night, sometimes all the time ...). How can we know if he is just as sick as his school friends and if it will get better next year or whether it is a CF exacerbation? What can we do ? Should we take special precautions? Thank you.
08.04.2016
Breastfeeding for CF mother
Hello I am pediatric nurse and I met a future CF Mom. She wonders about her ability or not to breastfeed her newborn. I don't know what to say. Thank you
08.04.2016
ISET (Isolation by Size of Tumor cells) Test
Hello, We have learned that we are CF carriers and we now expect a child (4th months of pregnancy). Now we are extremely anxious. We live in Switzerland and it seems that the Iset test for CF is not available in Switzerland. Can you advise us how to do this test in a French hospital near Geneva? We thank you in advance for your response. Best regards
08.04.2016
Important BMI
My daughter aged nearly 4 years (June) has an BMI of 18. 95 cm for 16,1kg. For a long time, she had a lower weight curve than normal, the CF center recommended us to give her high calorie meals. But now I wonder if the dose of Creon 12000 (1 morning, 3 afternoon, 3 for snack and 3 evening) is not too much?
08.04.2016
Frequency of care outside infection phases
Hello, I am contacting you to compare practice in France and in the Czech Republic concerning the frequency of care, especially nasal aspiration. We live in the Czech Rep. and our 5-week-old baby was diagnosed to suffer from CF. We have 3 sessions per day (breathing physiotherapy, inhalation and nasal aspiration) as a precaution. Our child has not congested roads and resents the nasal aspiration. We want the best for her but we wonder if having nasal aspirates 3 per day (and inhalations) is no exaggeration as there are no obvious signs of the disease? Is this practice common in Europe in general? Thank you in advance
08.04.2016
Replace a gene with a special method
Hello, is the CRISPR / cas9 method envisaged in cystic fibrosis? Are trials going on? Thank you
08.04.2016
Sailing school discovery
Hello, our 8-year old CF son will go in May with his class for a discovery sailing trip on Lake Thau, near Sète (France). The problem is that they will sail with little "optimistic" on the lake and not on the sea. The CF Center has not banned but said that it was not the ideal destination. From our parents point of view, the risk / benefit ratio confirms his participation in this collective adventure with his friends. Nevertheless, we would like your advice on the precautions and warnings related to this particular context, knowing that his Dad will be present on site and may take a number of specific constraints. Thank you for your help!
08.04.2016
<<  < 39 | 40 | 41 | 42 | 43 | 44 | 45 | 46 | 47 | 48 | 49 | 50 | 51  ...  342 >  >>