Topics

Saliva in cystic fibrosis
Hello, For quite some time I am interested to learn why the saliva in CF isn’t more viscous than in healthy persons? Is its composition, amount and viscosity normal compared to the saliva of healthy persons or are there differences? According to Wikipedia the saliva contains the digestive enzyme alpha-Amylase ptyalin which has hardly time to be effective until it is inactivated in the stomach by gastric acid. If there is ptyalin in the saliva – despite CF – does it make sense to chew the food for a long time? Many thanks, S. K. (2x dF508, 48 years)
09.07.2013
prenatal diagnosis
I read on INSERM [institue national de la santé et de la recherche médicale = French national institute for health and medical research] website that the ISET method developed by P.Paterlini-Brechot would be soon available. When? Thank you for your answer.
09.07.2013
vitamins
Hello, should we take vitamins (ADEK) before breakfast or during it? Thank you.
08.07.2013
research
Hello I want to know if there are researches for people carrying one F508del mutation associated with other mutations, because we heard about Vertex’s trials but they apply only people with two F508del mutations. Thank you for your website.
08.07.2013
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
CF_the vest
Hello, I am from Botosani [Romania]. I would like to ask a question concerning my 6-year-old nephew who was diagnosed with CF and followed-up by Iasi Hospital. Can you tell me please something about the airway clearance with the vest system? Thank you.
08.07.2013
CF
My little girl is 11 years old. In 2007 we went to Timisoara [Romania], to Dr. Zagorca Popa for CF. It all started at the age of 8 months with celiac disease, followed from the age of 5 by bacterial pneumonias. The genetic test was negative, but the sweat test was positive (68, 58). 5 years have passed and she gets pneumonia every two months. She cannot expectorate because of the stickiness of the secretions. After 6 weeks following the treatment, it starts again. If she succeeds to expectorate, the secretions are stiff, cork-like and sticky. Her forehead is salty, she is easily destabilized, and she loses 2 kilograms weight. Her fever rises up to 40°C and persists for 5 days. The recovery is difficult. Even with the dietary treatment for celiac disease and the antibiotic treatment, she gets rectocolitis. The secretions are not only viscous, but also very sticky and they stick to fingers. Please give me an advice.
08.07.2013
colistin
Hello, I would like to ask you how many types of Colistin do exist? Can we mix 1ml powder I.U. with 10 ml saline solution for nebulization? Can one use 5 ml twice daily on a 6-year-old girl for sinusitis? Thank you.
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 anything to me, I typed the term in "google" and understood, that it seemingly deals with CF. I want to ask you for explanation of the medical term, especially if it allows a conclusion on the course / severity of the disease and if yes, which one. The doctor at the hospital only explained at that time to me, that he wants to check with the molecular genetic investigation, if there is probably a "mini-CF" underlying, that however only hardly shows symptoms and either does not need any therapy. Is there anything like a "mini-CF" at all and does the above mentioned result mean that my son suffers from CF? Many thanks!
08.07.2013
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