Topics

Genotype T5/T7 and TG11/TG12
I am pregnant and my spouse was found to carry the genotype 5T/7T and TG11/TG12 in the T and TG polymorphic CFTR regions (heterozygote for T5-TG12 allilomorph. I ams going to get tested as well. Should I be concernded? What are the chances? Thank you.
22.06.2018
pets- rabbits
My friend has CF. We would like to have a rabbit as pet. Is this allowed? We prefer a cage in the house, that we clean daily. Thank you,
22.06.2018
rabbits
Can a Cf patient have rabbits at home? Or should we keep them outside? My friend is a CF patient. Thank you
22.06.2018
Aspergillis
The aspergillis requires a heavy treatment. Are there scientific studies into the effectiveness and consequences of la (long-term) treatment with anti-fungal medication?
22.06.2018
distended gallbladder and hyperechogenic bowel
Our second baby (I am 20 weeks pregnant) was diagnosed with distended gallbladder and hyperechogenic bowel. Are these two connected, or not? Could you give us some information about the first, which is somewhat rare? Is amniocentesis advisable?
22.06.2018
Combination of DF508/R1162L
After testing I was found to carry the c.3485G>(R1162L) mutation and my husband the DF508 mutation, both in heterozygote. Does the combination of these two mutations cause CF, or any other pathology? Thank you in advance.
22.06.2018
Cystic Fibrosis Related Disorders
I am 21 weeks pregnant. I was found to carry the DF508 CF mutation and my husband the c.220C>T (p.R74W). Does this combination cause mild or severe CF symptoms? Do you recommend an amniocentesis? We have two conflicting opinions. Thank you.
22.06.2018
CF
After an amniocentesis the CF mutations DF508 was found in the fetus. My wife does not carry the DF508 and was checked for 89% of CF mutations. I was tested and we await the results. Even if I am a carrier, what are the chances of the baby being a carrier or having CF? Thank you.
25.05.2018
CF mutations
The mother carries the mutation G542X in heterozygote status and the father the nucleotic change c.949G>C (p.Val317Leu) of the CFTR gene. The fetus, after an amniocentesis carries the G542X mutation from the mother and the p.Val317Leu mutation from the father. How severe will the CF be?
25.05.2018
combination of DF508/R750Q
I am 21 weeks pregnant in my first child and I was found to carry the DF508 mutation in heterozygote status. My husband was found to carry the R750Q mutation, also in heterozygote status. I would like to ask: 1. What are the chances of the fetus inheriting both genes? 2. What mild symptoms does this combination result in? 3. Is there a chance of the symptoms being severe? 4. What is the chance of sterility?
25.05.2018
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