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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
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- swine flu_novel influenza
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Topics
- Rare mutation
- Dear expert team, my son is 20 years old and suffers from CF with a combination of delF508 and 525 delT.-Mutation. I am interested to which group of mutations the second mutation belongs (exon 4-frameshift) and if my son was a candidate for the new triple combination of VX-445. Best regards,
- 24.10.2019
- Effects of atypic CF F508del/p.Thr582Ile
- Dear expert team, I am 20 years old and a few years ago, the above mentioned mutation has been found, however the physicians were not able to give me a real prognosis. My sweat test was inbetween normal and pathologic. The mutation had been found after I had several pancreatitis episodes, ...
- 24.10.2019
- Mutation
- Dear expert team, our daughter has the mutation detal F508 and c.1730A>T. Is there any information about this combination? Thank you
- 24.10.2019
- W1282X und R347P
- Dear expert team, what is the latest research concerning the above mentioned mutations? Will there be any drugs soon that correct the genetic defect? Thanks
- 01.04.2019
- CF and intolerance of acetylsalicylic acid
- Dear ladies and gentlemen, I care for a 17-year-old patient with CF: homozygous for c.358G>A, p.(Ala120Thr), pancreatic sufficient, first diagnosis made at the age of 17; symptoms: nasal polypes for 1 year (polypes were removed 09/17 and 07/18), no pulmonary symptoms, normal lung function, ...
- 26.10.2018
- Price of CF testing
- How much does the cf testing cost?
- 09.09.2018
- CF mutations
- After genetic testing for CF my wife was found to be a carrier of the c.3635G>T mutation. According to the results the aitiopathology of the mutation is not defined and the mutation is considered to be of unknown clinical significance. I was tested as well and found to carry the c579+3A>G mutation. ...
- 09.09.2018
- Mutation p997F
- My wife is pregnant. After getting tested for CF mutations she was found to carry the DF508 mutation. I was checked as well, for 99.6% of pathogenic mutations, without tracing any. However, in the results it is written in small print that the investigated sample is heterozygote for the ...
- 09.09.2018
- Possibility of CF
- I am 10 weeks pregnant. After checking for 100% of CF mutations I was found to carry the DF508 mutation, while my husband carries the (c.31G>A) rs 1800072 mutation. What are the chances for CF?
- 09.09.2018
- CF carrier
- We were not genetically tested for CF and now there is no time left. I would like to know if a carrier of a CF mutation is totally without symptoms, and the only way to find out is dna testing? Thank you!
- 03.08.2018