Wachtwoord vergeten?
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
- Diagnosis F508del and R1162X
- Hello, my 11-months old son has been diagnosed to suffer from CF and F508del and R1162X have been detected. However, during the talk it became unfortunately not clear to me what kind of form it deals with here. Is that a rare combination? Can you make a recommendation for a CF center in ...
- 26.10.2015
- 3849+10 Kb C /F508del
- Hello I wanted to know if the Guthrie test detects primarily pulmonary cystic fibrosis? Knowing that this test is sensitive to pancreatic enzymes... Thank you
- 28.09.2015
- Hope for cure
- I am a carrier of two mutations, G542X and 2183AA>G. Are there any grounds for hope for a cure in my case? If yes, what does it mean and what will change in my everyday life? If not, is there anything being done for my mutations, or are they rare and indifferent to the researchers?
- 19.09.2015
- Prenatal diagnosis
- Hello, We have a 5 year-old daughter who was diagnosed with cystic fibrosis at the age of 4 months. Since this day we have been in safe hands in terms of medical and physiotherapeutic care. Our daughter is fine, till today she has not had any evidence of problematic germs. We have our ...
- 13.09.2015
- Genotype 7T/7T
- My husband was tested for mutations in the CFTR gene, and in the results it writes: “ the genotype 7T/7T was detected in the sample in relation to the polymorphic region of the CFTR gene”. Does the above mean that my husband is a carrier of the disease? The reason for him being tested was ...
- 19.09.2015
- Amniocentesis
- I was checked for >98% of CF mutations and I was found to carry the DF508 one. I am pregnant, therefor my husband was checked as well. If the results are negative, then the fetus has a 50% chance to be a carrier? If my husband is found to carry the same gene, then there is a 25% chance for the ...
- 14.08.2015
- Treatment for CF
- Is there a treatment/cure for a person with the mutations DF508 & 621+1G>T?
- 14.08.2015
- Heterozygous F508del/2789+5G>A
- Hello, I am 56 years old and CF compound heterozygous F508del / 2789 + 5G> A. I read several foreign sites that ivacaftor was prescribed to patients with the same mutations than me, with results that seem spectacular. My pancreas hardly works, but being still pre-diabetic I try to save the few ...
- 05.08.2015
- Research and mutation c.489+1G>T
- Hello, I wonder if there are many people homozygous for the mutation c.489 + 1G> T (621 + 1G> T) and what about therapeutic or research, is there hope in this case?
- 05.08.2015
- F508del Heterozygous
- Hello, I read this article very encouraging: http://www.news-medical.net/news/20150519/Two-drug-combination-improves-lung-function-in-some-cystic-fibrosis-patients.aspx But for heterozygous F508del, do not we say that if we correct a mutation, we "cure" the disease ?? So, those who have at ...
- 05.08.2015