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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
- Progression with R553x/IVS8-5T-TG12 mutations
- Hello, My daughter has been diagnosed with atypical cystic fibrosis. What does that mean? Do you possibly have any experience with the mutations mentioned above? Many thanks C.M.
- 06.09.2010
- R553x/IVS8-5T-TG12 mutations
- Hello, my 5-year-old daughter was diagnosed with cystic fibrosis two weeks ago. Sweat test was negative, but the paediatrician ordered a gene test, which showed that she has the R553x/IVS8-5T-TG12 mutations. This is supposed to be an atypical cystic fibrosis. What does that mean, and how does ...
- 06.09.2010
- CF in Asian countries
- My child has lung problems that seem like CF. After screening for 34 mutations he seems to have one common CF mutation. Specific tests to look for other mutations and a nasal potential measurement are ongoing. Her father comes from Indonesia and I wonder whether Asian people carry other mutations ...
- 16.06.2010
- Mutations, do I have CF now?
- Dear expert team, could you please explain the following mutations to me? Result and interpretation: I have in the exon 21 of the CFTR gene the mutation p.Asn1303lle (c.3908A>T, traditional writing 4040A>T) heterozygously. The clinical meaning of this change is not clearly described. ...
- 21.04.2010
- CF: Mutation of chloride channel?
- Dear Sir or Madam, During a test in the subject „clinical pharmacy“ the following statement was made: “In CF there is a mutation of the chloride channel.” One should consider if this statement is correct. In my opinion it is wrong (...). What do you think? Best regards M. ...
- 16.04.2010
- genetics
- In my 5-month-old daughter CF was diagnosed and mutations 3849+10kbC>T/2143delT were detected. I can't find any information about the second mutation. So far my daughter has no symptoms. On the basis of these mutations, can one predict the course of the disease: mild or severe?
- 14.04.2010
- DNA
- How many DNA variants are examined when CF is suspected?
- 23.03.2010
- Genetics
- How can you explain that only one in four children has CF and not all children?
- 23.03.2010
- recessive CF carrier and pancreatic problems
- I am a possibly carrier of the CF-gene, the disease being present in my family. I know that mild forms of the disease may be present in CF-carriers, for example resulting in infertility (a disease also prevalent in my family). My question is the following: “Is it possible, being a carrier, not to ...
- 23.03.2010
- genes
- I have a few questions in the context of a scription I have to make on this subject and I hope you can help me. [The questions are integrated in the answer]
- 22.03.2010