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- Burkholderia cepacia complex
- Hi my sons cough swab results came back saying he has burkholderia cepacia complex. I've had to send another swab but not sure why. I have read up on this infection and from what I understand I am very worried. Can you tell me what I should expect to happen and what the likelyhood of completely getting rid of this infection is please.
- gene mutation heterozygotes
- dear All, My boyfriend received the diagnosos Cf, mutations delta f 508 c.1521_1523 del and 3300_3014del. I tried to find something about this mutations, without success so far. Could you tell me more about this (second part 3300_3014) of the heterozygotes mutation. Kind regards, Georgina
- Gene mutations DELf 508 and 3300_3014del
- Dear Experts, I´ve already asked in March but my question has not been answered (up to now), so I try it again: I would like to know, if there is any information about the Mutations-combination: delta f 508 c.1521_1523 del and 3300_3014del, heterozygote? What kind of Mutation is the 3300_3014del- Mutation? I couldn´t find any more precise information about these kind of CF-Mutationscouple. Thanks in avdance
- G542X /5t and PA
- My 7 year old son was diagnosed with carrying g542x and 5t. This diagnoses was made when he was 6 years old after experiencing syringeal akrokeratoderma in his hands (exesive wrinkling of the palms) He has a sweat test of 39 and then 40 The wrinkling of the hands only lasted for about 3 months. My son also has inserted ear tubes at the age of 2 and 4 due to fluid build up. We were told that our son would experience sinus infection and the possibility of the absence of his vas deference and not too worry. However the cf clinic wanted to observe him every 6 months. Recently my son had a wet cough which lasted for 5 weeks. He was seen by his pediatrician and confirmed that everything was ok, just had a regular cold. During our recent cf check up, my son was diagnosed with pneumonia for the 1st time and was given amoxicillin (80) for ten days and the cough has dissapearded. However during the cf check up they performed a throat swab culture and the results came out positive for PA. ( it was negative 6 months ago) The dr was surprised as he said that PA only appears in classic cf patients and asked us to repeat the test this week as well as a complete genetic panelling for the other 1500 cf mutations. I did not know anything about PA until I came across this wonderful educational web site and I thank you for that. However it has gotten me extremely worried and started to disinfect my home with chloride. Is it possible that we will find another cf gene? I will be getting the results in 2 months. Also I have read that if PA is cought early it can be treated with a success rate of 80 percent. What is the definition of early? My son has level 1. What is the best treatment to eradicate PA? And what can I do to ensure that he does not get again? From the bottom of my heart I thank you for taking the time to answer my questions. Worried mom Mary.
- my granddaughter is 5 years old. Can a chiroprator help her. she is having breathing problems. she has had 3 visits in the hospital in the last 7 months with low O2 stats
- Potential cystic fibrosis
- Me and my husband are cf carriers. I have the DF508del mutation and my husband the R117C. We have a two years old daugter with a mild cf and a five and a half years old son with the DF508del mutation. Some doctors and genetists say that my son is simply a carrier, even though he has two sweat tests at 69 and 55. Our cf doctor believes my son is a patient too even though only one of our gene mutations has identified. Please tell me if this is possible. I strongly believe that my son is ok but i have doughts because of the disagreement of the doctors opinions. I notice that my son's health is excellent. He is now 18 Kgr and 107cm and he had an intussusception at three.
- CF yes or no?
- Hello, My 4 month old daughter have F508del and R117H (7T,9T) What are the risks to have CF? Thank you
- Anti reflux
- Bonjour, nous avons un enfant qui a la mucoviscidose et je voulais savoir si les médicaments anti-reflux, d'un point de vue général, étaient déconseillés pour eux. Je ne suis pas expert mais il me semble que ces médicaments ont pour but de "colmater" et par conséquent pourraient empêcher la fluidification? Merci
- Pulmozyme Abdominal Pain
- When my daughter does her breathing treatment with Pulmozyme she gets bad stomach pain. She doubles over in pain and it is hard to watch. When the pulmozyme is done it goes away. This happens every day, and I am just at a loss. She is crying and miserable. We use a mask when doing her treatments, so I do not know if that makes more of the drug enter the GI system or what. Are there in adverse events with pulmozyme that relate to abdominal pain?
- limfom nonhotkin cu celula mare B+folicular
- Ma puteti ajuta sau indruma pentru un alt tratament pentru limfom nonhotkin cu celula mare B si folicular. Am urmat tratament cu citostrtice : 8 luni cu C.H.O.P. plus mabthera, 3 luni cu Etoposid si 3 luni cu I-GEV [holoxan] +mabtera. Adenopatiile s-au redus cu cca. 85% dar nu au disparut. Cu multumiri As.med. IVANUS MARIAN (spitalul militar buc)