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Keywords
- ABPA_Aspergillus
- accompanying diseases
- air-improving devices
- allergy
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- covid-19
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- general aspects
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- health care
- hepatobiliary disease
- hygiene
- i.v.-lines
- inhalation
- lung
- microbiology
- miscellaneous
- modulator therapy
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- nutrition and GI problems
- oxygen supplementation_therapy
- physiotherapy
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Topics
- polymorphism 7T and 9T
- Performing the genetic test for 38 mutations of the CFTR gen, it came up to be negative, they detected 7T and 9T polymorphism. How important is this polymorphism, especially from the point of view of diagnosis and clinical examination. Thank you very much.
- 08.07.2013
- We don't know if our girl has CF, it's not sure yet
- A blood sample for the genetic testing was taken just to exclude CF. If me and my husband are not CF carriers, is it possible for our child to have it? Or is it possible when both parents have CF?
- 08.07.2013
- What does the following term mean: Heterozygous carrier of the Delta-F-508 mutation?
- Hello, today I got the result from the children's hospital per mail for my 16-year-old son, i.a. a molecular genetic investigation has been done. The result is the following: "Heterozygous carrier of the Delta-F-508 mutation in exon 10 of the CFTR-gene." As those medical terms do not mean ...
- 08.07.2013
- Mild hyperechogenic bowel
- I am 31 years old and did the second level ultrasound. It was concluded that the fetus has a mild hyperechogenic bowel. I was told the same thing for my first child 4 years ago. I had an amniocentesis and the baby was normal. What do you suggest I do?
- 02.07.2013
- Hyperechogenic bowel
- I am 30 years old and pregnant with my first child. I had the second level ultrasound and the doctor detected a hyperechogenic bowel. All the tests till now were good, but I was informed that the possibility for Down syndrome had risen from 1/19194 to 1/6398. The doctor said it may not mean ...
- 02.07.2013
- Combination of mutations 5Τ/7Τ/9Τ
- I have a three year old son (born premature and hospitalized for 2 weeks without respiratory problems). During my pregnancy I and my husband were checked for 36 CF mutations plus for 5T/7T/9T. I was found to be a carrier of 5T and 7T mutations and my husband of 7T and 9T (at intron 8). We were told ...
- 24.07.2013
- Costs of genetic tests
- Hello what are the costs of genetic testing for the identifcation of mutations (common & rare)?
- 02.07.2013
- Number of mutations searched for genetic counselling of parents
- Hello, Once the child has been diagnosed with CF, could you tell me which kind of test is used and how many mutations are sought in the parents blood sample withdrew to check the mutations in a genetic counselling?
- 02.07.2013
- 8 year-old girl with aquagenic keratoderma syndrom (follow up)
- I asked about your opinion on my 8 year old daughter with Aquagenic keratoderma syndrome that appeared 6 months ago. Sweat test is 26 (performed 2 months ago). We have just received the results of the genetic blood test, which is negative for the 32 CFTR mutations studied in France today. By cons ...
- 01.07.2013
- G542x/5t and pseudomonas
- Good day, Can you please provide me the symptoms that someone with the above genes can have? My 7 year old son recently was diagnosed with Pseudomonas aeruginosa and is waiting for the results for the second sputum test. I was told that he might have more than usual sinus infections and the ...
- 24.06.2013
