Σύνδεση χρήστη
Keywords
- ABPA_Aspergillus
- accompanying diseases
- air-improving devices
- allergy
- animals_pets
- antibiotic therapy
- asthma
- complementary medicine
- covid-19
- diabetes
- diagnostics
- drugs side effects
- drugs under development_genetic therapy
- ENT
- general aspects
- genetics
- health care
- hepatobiliary disease
- hygiene
- i.v.-lines
- inhalation
- lung
- microbiology
- miscellaneous
- modulator therapy
- MRSA
- nutrition and GI problems
- oxygen supplementation_therapy
- physiotherapy
- Pseudomonas aeruginosa
- psychosocial
- public facilities
- recreational activities
- reproduction
- research
- social law
- sport
- swine flu_novel influenza
- transplantation
- travelling
- vaccination
- ventilation
Topics
- Mutation
- Hello, Is the 1717-1G> A mutation (which is part of class I mutations) associated with premature discontinuation of protein production secondary to a stop codon? In this case, could it be accessible to PTC124 (Ataluren)? Many thanks for your reply. Yours.
- 29.03.2011
- Mutation F508del
- Good evening, I am 38 years old and 6 months pregnant in my second child. After the amniocentesis the fetus was found to carry at one gene (heterozygote) the F508del mutation. Our first child – 5 years old – does not have any symptoms. Is there any danger for the fetus? Thank you, ...
- 28.03.2011
- NANA
- Dear all, My son is 11years old.CF del F 508/525del T. (on exon 4). What is the prognose for this combination of genas? Chloride in sweat is 65.We leave in small country Montenegro on the Balkan and we don't have big medical centar for CF,so your answer will help us a lot...Thank you!
- 31.03.2011
- Genetic testing
- Dear ladies and gentlemen, for our daughter, there had been the suspicion of CF, after the third test it could be excluded. We are planning a child at the moment, can we get tested in advance that we can exclude, better say if our chances for a healthy baby are good? Many thanks
- 22.02.2011
- Lungs or pancreas - clinical trials
- Is there anything for the mutations ending in ...X. When will it be available in Greece? Does it concern the lungs or the pancreas. Thank you!
- 18.02.2011
- CF mutations
- Good evening! I have a baby boy six months old. When he was 3 days old he was operated for ileus due to meconium. The surgery went quiet well and immediately after the baby was tested for cf and two mutations were found (c.621+1G>T/p.G85E). Up to now he is very well and suffers only from pancreatic ...
- 18.02.2011
- 5T-variant
- What means: ....the 5T-variant (IVS8: TG11-5T/TG11-7T) could be detected in the polypyridmidine tract in intron 8 of the CFTR gene in heterozygous condition. Many thanks!
- 13.02.2011
- Twins
- If a twin suffers from CF, is the other child also ill or can it be totally healthy?
- 09.02.2011
- Mutation
- Hello My daughter has CF and is almost 4 years old. She is clearly pancreatic insufficient and has a rather moderate pulmonary impairment, (say Staphylococcus colonization, and started Pulmozyme 6 months ago) with mutations deltaF508 /1898 +1 G> A. I failed to get information from my CF Center ...
- 08.02.2011
- Search for a similar genotype
- Hello my son was diagnosed CF at birth. His mutations are 508 del F and P5L. 3 sweat tests showed very diferent results (from positive to negative). He’s regularly followed in a CF Center, is today 3 years of age and luckily does not present any symptom of the disease. Is there an identical ...
- 02.02.2011