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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
- 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
- FEV1 in mild forms of cystic fibrosis
- Hello, Are FEV1 of 100 % after the age of 30, history of frequent bronchitis, immunodeficiency in childhood, rhinitis and chronic sinusitis, and unexplained abdominal pain consistent with a mild form of cystic fibrosis?
- 19.06.2013
- Medical test ASO
- What is ASO?
- 19.06.2013
- F508/R1162X
- Dear ladies und gentlemen, unfortunately we have to assume that our unborn son (31 st week of gestation) has inherited the mutations F508 and R1162X, as we are both each heterozygous carrier of one of those mutations and in the last prenatal ultrasound investigations always an echogenic bowel ...
- 19.06.2013
- Forms of mutations
- My son has been diagnosed to suffer from CF additionally due to a meconium ileus and at the same time a pathological result of the newborn screening and a subsequent sweat test. After a detailed analysis of the genetic testing we got the result of the kind of mutation: DF508/del.13/14a. As I ...
- 18.06.2013
