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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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Topics
- Mutation G149R
- Hello, I would like to know what is the class of the G149R mutation? Thank you for your answer
- 07.06.2015
- R1166C and 2142delT
- Hello, what is the clinical course of the illness with the above mentioned mutations? Are any new drugs for those mutations available?
- 06.06.2015
- DF508 carrier
- We proceeded with my husband to check the CFTR gene for CF mutations – 38 mutations, approximately 80% of the mutations. I was found to be a carrier of the DF508 mutation, whereas my husband does not carry any of the looked for mutations. There is a 1/500 chances to have a child with CF. Do you ...
- 06.05.2015
- Genotype F508del/1717-1G>A and clinical trial
- Hello, First thank you for your site and your answers! Here's what I read in the search results. "Currently, four Phase 3 studies are underway for VX-661 (100 mg once daily) in combination with ivacaftor (150 mg every 12 hours). One of those studies is in people with two copies of the F508del ...
- 06.04.2015
- Amniocentesis
- I am a carrier of the CF mutation N1303K, and more specifically of the heterozygote mutation N1303K (c.39C9, exon 21, Genctype IVS8 polyT:7T/9T). I have been checked for 46 common mutations (greek panel). I am 13 weeks pregnant. My husband will be checked, but we will have the results in one month. ...
- 06.04.2015
- My son: a 3 months-old CF baby
- Hello, My son born in September 2014 was detected to have cystic fibrosis in October 2014. Since then, our lives are turned upside down .... A lot of stress and fear for the future of our child. We got the results of mutations in December. Since I’m crying a lot... Can you give me some ...
- 13.03.2015
- Explanations about mutations
- Hello My son, born in mid-November 2014, was diagnosed via Gutrie test perforemd at birth. On the eve of his first month we learned about his illness, and performed a sweat test giving 103mmol / L. Everything is new and I do not fully understand the mutation he has got. Indicated two mutations ...
- 13.03.2015
- Risk for cystic fibrosis: carrier father, no carrier mother (??)
- Hello, I am contacting you because I am pregnant in the 3rd month now and I have concerns about my baby and a possible disease. We have learned recently that my husband's niece (daughter of his sister) was diagnosed with cystic fibrosis. We inquired about the disease and its transmission and had ...
- 13.03.2015
- F508del/Normal Genotype and ENT symptoms
- Hello, as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see?
- 08.03.2015
- Mutation DF508 / R117H 7T
- Hello, I am 20 weeks pregnant and we just learned that our baby has inherited by our mutations. My husband is a carrier of the DF508 mutation and myself the R117H 7T. Can you tell us about the symptoms that our child could have, how does this will lead in his daylife? Thank you in advance for ...
- 08.03.2015