Topics

Male with cbavd, woman no abnormalities on the CFTR gene. What are the consequences?
Because we wanted to start a family, but no children came, we went to a fertility centre. Tests revealed that there was no sperm in the ejaculate. Further tests revealed absence of the vas deferens and small seminal vesicles. Genetic tests revealed an abnormality in the CFTR gene. I am 33 years old, I have never had any symptoms of CF. I assume it will remain like that. Since I have this genetic defect, tests were done in my partner. She does not have any CFTR gene defect, so we will have a fertility treatment ICSI. What are the risks to the baby? Will he be a carrier and that’s it?
08.05.2012
Inhaling more quickly
Our daughter is whining and crying each time during the therapy because she is bored. She does not want to do her therapy and this is really troubling our everyday life. Therefore, my partner had the idea to mix the drugs to make inhalation quicker. She needs Colistin and Pulmozyme® (Dornase alfa). What do you say?
08.05.2012
A long ordeal
Hello, I am writing concerning my husband, who is now 31 years old and has been having problems for four years. It started with sinusitis at the time… Since then, he has been suffering from viscous phlegm in the sinuses and particularly also in the lungs. He constantly clears his throat, has been coughing almost regularly in these four years, and in effect has been having yellow phlegm constantly as well. The lung pressure has been deteriorating in the last three months. He is being treated at a lung clinic but all diagnostics keep leading the doctors to the conclusion that he has asthma and that he has to learn to live with it. In addition, a mite allergy would cause the problems. However, my husband and I feel that that cannot be the only thing. He is underweight, has very little body fat and does not feel fit. He himself got the CF idea and told his doctor about it, who dismissed it. However, upon researching the internet, I found several articles that specified almost exactly the same symptoms, with atypical CF as a cause. The enlarged spleen, which has known of for three years, could be explained this way. Can you give us a recommendation as to what we can do in order to have diagnostics done for atypical CF? Many thanks for your help.
08.05.2012
Further question about 7% NaCl
Hello, Earlier, I asked a question about 7% NaCl solution since many studies are based on this concentration. Now I read that the combination of 7% NaCl and hyaloronic acid (0,1%) can make sense. And actually I found such a combined solution in the internet [German site], e.g. here: https://www.aliva.de/angebote/hersteller/p/pari-pharma-gmbh/hyaneb-7-nacl-0-1-hyalurons-auml-ure-inhalationsampullen-30x5-ml-pzn-7646633.html?trackingurl=2be8a779-cd38-4f46-bd79-4000332a976a Does this make sense and is it possible to get a prescription paid by a public health insurance institution [in German: Kassenrezept]? Best regards,
08.05.2012
7% NaCl
Hello, Many studies about the effectiveness of hypertonic saline were conducted with 7% NaCl solution. MucoClear® is, however, a 6% solution. How can I get a 7% solution? (P.S.: if the solution has to be mixed: what exactly should the prescription say?) Many greetings
08.05.2012
Renal gravel
Dear expert team, my 7-year-old son has CF (F508 homozygous), his current FEV1 is at 88.4% and he is being treated with antibiotics continuously (cephalexin 1000mg and ciprofloxacin 250mg – 3 weeks on/3 weeks off, as well as colistin). We do an i.v. therapy at home once every year, the last one ended in mid-February. Pseudomondas was last detected in January 2008, but never again since. Now he had a kidney stone/renal gravel discharge, which was obviously very painful for him… (No abnormalities in the blood count.) My question now is: is it possible at all that this is linked to the drugs? Is the long-term antibiosis really necessary? Thank you for your answer.
08.05.2012
Mycobacteria
Hello, 14 days ago I was diagnosed with a mycobacterium. TBC was excluded. What other bacteria come into question? And, what is very important for me: What does that mean for me in the worst case? I am thankful for each helpful and honest answer. Many thanks in advance and best regards, PH
07.05.2012
Delta F508 x G542X mutation
Dear expert team, My two-month-old daughter has the mutations mentioned above; class 2 and class 1, respectively, i.e. very serious mutations. Do you know about any progressions of the disease with this combination? What should we expect? Can you recommend any drugs? My daughter is gaining weight quite well at the moment, and she does not seem to show any symptoms. We will test her for bacteria and lung function next week. Results apart from the gene test as of now: 1) IRT 131,5 ng/mL 2) pancreatic elastase: [translator’s note: some information seems to be missing in the original question]
07.05.2012
How is the mixing ratio?
Hello, How is the correct mixing ratio if I have NaCl 6% and NaCl 0,9%? My 15-month-old boy is supposed to inhale NaCl 3% which was, however, refused by the insurance company… only NaCl 6% was approved. Many thanks
07.05.2012
Mild CF?
Hello, I would like to know if it can be said that the splicing mutation 711+1G>T and the stop mutation p.R1162X. belong to a mild mutation?
07.05.2012
<<  < 187 | 188 | 189 | 190 | 191 | 192 | 193 | 194 | 195 | 196 | 197 | 198 | 199  ...  341 >  >>