Σύνδεση χρήστη
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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
- Chorionic villus sampling (CVS)
- Hello! My husband and I have a daughter with CF (mutation d508 and g551x). Now we are thinking about having another child. Which prenatal diagnosis is available? I read about chorionic villus sampling (CVS). Is CVS done or first an amniocentese? Can this sampling really be performed in ...
- 01.09.2011
- Cystic Fibrosis and carriers screening
- Hello, Why is it not done automatically as toxoplasmosis or rubella, a search for future young parents (no history in the family) that would check if they are carriers of the gene or not? I think it would be less expensive for the Health Insurance Coverage than paying a lifetime to care for a sick ...
- 01.09.2011
- Mutation V470M homozygous
- Dear expert team, My 5-month-old niece was diagnosed with the V470M homozygous mutation. Polymorphism: In3: c.274-179G>A (rs1429566)- homozygous In9: c.1210-13G>T (RS10229820)- heterozygous I have not been able to find any hits on the internet; I assume it is a rare mutation, since our ...
- 30.08.2011
- 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
