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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
- G551D and delta F508 mutations
- Hello! My daughter has the above mutations. Can you say something about progression? Could VX770 help? She is six months old. Would an application be too early at this point?
- 04.08.2011
- Rare mutation
- Our son, almost 2 years old, has the mutations F508del and E1104V. The institute for human genetics told us that a prognosis cannot be given since his constellation was unique. Are you able to tell us something about it? Many thanks.
- 01.08.2011
- Efficacy of VX 770
- Dear expert team, I have besides F508del the mutation "FTR del 2,3". In case of the homozygous occurence of F508del, one does already know, that VX 770 is efficient only to a very small extent concerning the nasal potential difference. It is known to me, that there are at the moment no ...
- 01.08.2011
- Mild mutations
- Hello, Are there mutations that make the disease milder than others? Thank you.
- 19.07.2011
- CFTRdele2, 3 (21kb)
- Our baby has 8 months and was diagnosticated at 6 moths with CF. Now we have received the results from the genetic test:" Heterozygous carrier of a 21 kilobase deletion in the CFTR gene, which leads to a loss of exons 2 and 3 (CFTRdele2, 3 (21kb) A second mutation was not found." also, he was ...
- 27.06.2011
- Compound heterozygous mutation delF508/R347H
- Hello My daughter is currently pancreatic sufficient since birth. I guess that when the patient is compound heterozygous (mutations deltaF508 and R347H) the mildest mutation gets over the other one Will it remain so, or do studies / statistics and knowledge on the R347H mutation phenotype show ...
- 20.06.2011
- How high is the risk of CF-pregnancy?
- I am pregnant and the 3rd child of the cousin of my husband has now CF (both children before have also the gene but are not ill). I am now very afraid that my child has that, too. What can I do? My first child has nothing and in our family there is nothing known about disability or inheritable ...
- 08.06.2011
- cystic fibrosis
- Hello. I have a boy that next month will be one year old. He took a sweat test and the result was 106 and then he took a genetic test at Genetic Lab in Bucharest (we live in Constanta). The result of the genetic test was: 1. the following mutations were detected: R553X-F508del, both heterozygous. ...
- 26.05.2011
- cystic fibrosis-genetics
- What does amplification of exon 3,4,10,11,19,20,21 mean on CFTR gene, no mutations were found. This analysis was sent to France (so does the laboratory say). They said that they will sent it in France for complete DNA sequencing for cystic fibrosis at LGNA (IGNA) in France, at Prof Jean Paul ...
- 26.05.2011
- Sustainability of pancreatic sufficiency in case of compound heterozygous mutation F508del/R347P
- Hello My daughter is currently pancreatic sufficient since birth. I guess that when the patient is compound heterozygous (mutations deltaF508 and R347P) the mildest mutation gets over the other one Will it remain so, or do studies / statistics and knowledge on the R347P mutation phenotype show ...
- 20.06.2011
