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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
- 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
- H199Y mutation
- Hello, my daughter born in 1995 has a H199Y mutation not listed in one of the four mutation classes (confirmed by doctor and scientist of the French CF association). How is this possible and how to know in this case if one of the latest treatments and future developments will be of ...
- 05.08.2015
- Carrier of a rare mutation
- Hello, Following a family tragedy (the death of my nephew at one month of life because of a rare and serious cystic fibrosis. My sister and her spouse are carriers of a rare gene...). For myself I conducted genetic tests. It turns out that I'm carrying, like my elder sister, a CF gene (which is ...
- 05.08.2015
- P5L
- Hello, I have a child with N1303K mutations and P5L, he is 2 years and so far has no symptoms of the disease. Have you heard about this rare mutation P5L? Thank You
- 05.08.2015
- Symptoms of rare mutations in our baby
- My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be ...
- 01.08.2015