Topics

Splicing and stop codon
Hello, There are among the numerous cystic fibrosis mutations, nonsense mutations (stop codon) and splicing mutations. Some splicing mutations lead to the formation of a stop codon. Is it the case of the 1811+1,6 Kb A> G? Thank you for your answer.
05.05.2014
MUTATION
Hello, according to the result of the genetic test we know that our 9 year old son is carrying the mutation C.579 3 A sup.G and c.1521_1523 delCTT or also called p.Phe508del. Could you tell me more about these changes? Thank you in advance and thank you for this very helpful site.
05.05.2014
question about milk
Hello to you! First of all, a big thank you for this website: it's just great. Here is my question: my boy aged 20 months drank growth milk until now, but today he does not want to drink anymore. What to do? Knowing that he still drinks 3 baby bottles during the day (morning, after nap, night), what milk can we give? Thank you for your reply. Best regards to all
30.04.2014
Inflammation of the salivary glands?
Hello, My son (7 years old) suffers from CF and has an inflammation of the salivary gland for 4 weeks, he has been given antibiotics and it did not help. We have been to the ENT doctor and he said that this would rather be a typical finding in CF.????? An ultrasound has been done, however there it could only be seen that they are enlarged on both sides, a swab from the secretion has not been done, however, there is no pus coming out. However, any time my son eats something the salivary glands start to swell on both sides and they get very hart and then it hurts him and about 20 minutes after the meal the swelling decreases. Drinking is no problem, about 3-4 liters a day. Now my son should get Botox (botulin toxin) injected into the salivary glands, I am still very skeptical about it. Do you have any idea what can be done in this case and did you ever hear about it that it is typical for CF? Many thanks.
30.04.2014
ABPA - Kombucha fungus
Hello, can self-made Kombucha (a beverage from tea and also the Kombucha fungus) at home be envetually a problem for a CF patient with ABPA (allergic bronchopulmonary aspergillosis) ? The fungus is only be covered in a glas with a slide of paper towel. Many thanks in advance.
30.04.2014
4th operation of the sinuses?
I face the question to have our son be operated at the sinuses for the 4th time. [Remark of the translator: I left out the name of a German hospital that was considered for the operation]
30.04.2014
Building a house
We would like to build a massive house made of wood. Does anything speak against a wooden house from the standpoint of CF? What about a ventilation system?
30.04.2014
Achromobacter and Colifin®
I am 48 years old. In November 2013, Achromobacter has for the first time be found in my sputum and also Pseudomonas, the latter for the third time (always with large year-intervals inbetween). My lung function value FEV1 was always in the range of 55-57%. Unfortunately, from February 2013 on, I had pertussis (whooping cough, detected by antibody titre). During the illness of pertussis, my lung function value decreased to 52%. At the same time as the finding of the germ, a lung function test had been performed in November, FEV1 value was 45%. Eradication trial with Ciprobay® (ciprofloxacin) 2 times a day for 30 days and inhalation of Colifin® (colistin) 2 million units 2 times a day now for more than 4 months. Result: Pseudmonas could not be detected after 30 days anymore, in all further sputum results it could not be detected either. Achromobacter still in the finding. Question 1: Shall I go on with inhalation of Colifin®? When inhaling, I have a marked dyspnea until 30 minutes after inhalation, I am spastically narrowed and have strong episodes of cough. My lung function did not improve under the therapy and as a side effect i.a. a worsening of the lung function is indeed mentioned. Furthermore I have increased blood in the sputum when coughing. Question 2: Can this be due to Colifin® or rather from the colonization with Achromobacter? Question 3: Shall I do an i.v. therapy, in case to get rid of Achromobacter in the end? Many thanks for your efforts in answering my questions.
30.04.2014
Klebsiella species in the bowel
How can I find out why Klebsiella species have multiplied so massively and unhealthily in my bowel? Mutaflor® helps, however I fear that after finishing the treatment without getting rid of the cause everythings starts again.
30.04.2014
Genotype F508del / G85E
Please, I would like to get general information about the phenotype associated with the mutations F508del and G85E. Thanks
30.04.2014
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