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    Oral intake & Sweat Test result
    Dear Sir / Ma'am, I have had the following email sent to the email part of our Helpline and I wouldered if someone knows the answer: - "Hi- This may be a strange question- Is there any information as to whether certain medications, supplements, or a diet with too much salt can cause a false positive on a CF sweat test? I appreciate your taking the time, Thank you, xxx" Kind regards, Lloyd.
    15.09.2014
    hypersensitivity pneumonitis
    Hi can someone please help i am 35 years old and very sic i have been diagnosed with hypersensitivity pneumonitis and we dont seem to have the right medication here in australia for my condition .I dont know waht else to do thanks
    08.06.2014
    MRSA
    Is it true that an MRSA encapsulation would most likely be located in the weakest part of one's body? My husband had a back injury back in 2007. In 2009 he got MRSA, probably from a cut on the leg. The leg got infected and soon after he developed lots of inflammation and fever and pain in the back. He was admitted to the hospital and they discovered MRSA in his blood cultures. Nothing seemed to work. Antibiotics including Vancomycin would not kill the bacteria. The neurologist finally found the encapsulation in the back where his 2007 back injury was. They performed emergency surgery to remove the encapsulated MRSA and then the antibiotics started to work. He recovered but is still undergoing surgeries to fix the back injury. I always asked why did the MRSA encapsulate at the back and one doctor told me it was because it found the weakest part of his body. Is that true? Thanks
    07.06.2014
    HOW TO TEST ON Y1092X
    Dear Mr/Mrs, I am the mother of a 15-year old child that is suffering from CF. 1999 he was screened at the Hospital Rebro in Zagreb that is a referent center of such tests in Croatia. It was found that he is a heterozygote of a mutation DF508/N. In our center test is being performed on 33 mutations. My sister recently moved for a job to USA and had performed screening at one hospital in Huston since she is a host of a mutation too juist like me. They found a mutation Y1092X. Is there any center in Europe that is performing screening for that particular mutation. Sincerely, Suzana Bartulovic, Rijeka, Croatia
    03.06.2014
    The qestion about MRSA to Dr Deirdre Gilpin
    The qestion about MRSA to Dr Deirdre Gilpin As i read MRSA doesnt trasmit throu air- it only hapen when person has lung disaes MRSA is usually not spread through the air like the common cold or flu virus, unless a person has MRSA pneumonia and is coughing http://www.webmd.com/skin-problems-and-treatments/tc/methicillin-resistant-staphylococcus-aureus-mrsa-overview So it means that i can not get MRSA from air As was writen here !! In this case doctor metined - when you have MRSA lung disease - it could be spread throgh air !! YES ?? It is possible for people who have MRSA (CF or non-CF) to pass it to household contacts or to people with whom they have close contact- even pets!- and recent studies have suggested that MRSA can be spread from the respiratory tract by coughing, sneezing and kissing. Partners of people with MRSA are at increased risk of transmission, probably because of increased bodily contact1. However, unless those contacts have a medical condition, its not likely that they would develop an infection but there is a chance that they become colonized with MRSA. This colonization may well be short-lived, but might be long enough to pass it back to the person with CF- this is particularly a problem if the person with CF is undergoing decolonization (i.e. a course of antibiotics designed to get rid of the MRSA). In order to avoid a cycle of colonization being established, it would be important to consider some important, but simple, infection control measures2. Regular showering using a medicated wash, containing chlorhexidine and handwashing, particularly after coughing or sneezing, by all household contacts may reduce the risk of colonization- alcohol based hand rubs may be particularly useful in this case. In addition, regular changing of bed linen and bed clothes may cut down the risk of MRSA spread.
    27.05.2014
    Need for help(assistant) for a diagnosis on a 15-year-old child
    Question hello, me you already have to put 2 questions for my 14-year-old son but not received of msg from you!! In other has this day the paediatrician who take care of him vien with leaving in another hospital then about one d other is going to take care of him all what j knew before his(her,its) depart c is that by telephone she(it) my said that aparament he(it) and negative for the muco he(it) wait for the confirmation by mail of the next day on the other hand she(it) not said that he(it) had a pancreatic insufissance and a quil go cross(spend) d other examinations but has this day not d other answers has all my questions I am lost!!!! Not way(means) to join(contact) the new paediatrician!! Aparament she(it) na not still acquainted with its file(case)!! Even by e-mail no answer!! Can you tell me is what conssaiquence d an insufissance
    27.05.2014
    sans reponse de plusieurs examens
    bonjour ,voilas j ai etais rediger vers vous car j ai poser plein de questions et je suis un peu perdu peu etre pourriez vous m aidez ??? j ai mon garcon de 14 ans qui en novembre a commencer a avoir des hemoragies du nez abondant avec cailloux de sang jai donc etais directement au doct lui faire faire une prise de sang ,coagulation descendu a 54 pour cent direction hopital ou la une pediatre a voulu le gardez jusqu au lendemain prise de sang complete carence en vitamine d, et k il a etais reconvoquer pour test de sueur qui cet reveler douteux un a 59 et l autre 60 ml , elastase fecal puis tes genetique resultats grande insuffissance pancreatique severe ,et test genetique pour la muco negatif , la nous y sommes retourner jeudi dernier prises de sang don nous n avons pas core tous les resultats , coagulation encore basse facteur 5 et 7 bas , vitamine a, e, d, et k carences , nous attendons ap le resultat de recueil de selles de 3 jours , puis piqure o doigt pour le sucre consomer sous 3 mois , il est sous traitement de creon 25000 depuis 4 voir 5 par jours ,il va y avoir une prise en charge et elle devrez presenter son dossiers dans les maladies rare car aucune maladie ne corespont au test utiliser !!!! quand penser vous ???? tous en sachant qu il a deja etais operer est qu aucun probleme de coagulation ni autre na etais deceler a ce temps la !!!il mesure 1.64 et pese 46 kg sachant kil a pris que 1 kg en 6mois voir plus merci d avance
    28.04.2014
    Disease Causing or not?
    Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T 7T/9T) c.1210-12_(1210-35_?GT[10]+[11] c.1766+152T>A c.2562T>G c.2909-92G>A c.3469-65C>A c.3874-200G>A A short history is my boy screen positive due to DF508 (my 11old neice is DDF508 and my daughter is a carrier), after a sweat test at 6weeks was negative he was presumed negative. He is my fourth child and I noticed he was different straight away. He has had a cough since birth which is increasing with age. I went back to doctors after he was continually getting sick with URI and cultured Heamaphilis Influenzae. from a few months of age he had chronic diareah with tummy pains and mucus in stools. He had a continual runny or blocked nose. He was again tested and sent to CF centre. Second sweat test was negative so dismissed again. After continueing to get sick and have diareah, sinus issues I ordered a full DNA test. He has had surgery to remove his adenoids due to infection and the doctor said there was excessive mucus through his sinuses. Six weeks ago he started showing signs of protein deficiecy (edemas in his feet and constantly sleeping). He has been put on creon and is a different child. He still has his sinus issues and a constant cough but I am ensuring he receieves daily airway clearence. The results from the DNA tests says that the mutation 1716G/A (legacy name) was previously thought to be not disease causing, but is has been show to have mild CF symptoms. The genetic specialist said I will have to be a sit and wait before a diagnosis is made depending on his symptoms, therefore making a diagnosis unclear. This mutation is listed as one for the trial of Kalydeco as it has some residual function. I would have thought that if it has been listed in this trial then it must be disease causing in someone? Have you got any information on the pairing of these two mutations and if they together are disease causing?
    05.08.2013
    DF508 and T7, T9 polymorphism
    Hello, my daughter is 7 months old and she has been diagnosed with CF when she was 2 1/2 months based on her clinical symptoms and sweat test result over 100. She is severely pancreatic insufficient with no lung implications so far. We performed genetic testing for her and it seems they detected delF508 and T7 and T9 polymorphism in her dna. I am a carrier for delF508 and no mutation has been detected for my husband. We would like to search for the other mutation as well as were told that T7 and T9 polymorphism don't mean anything in connection to her disease. Is this correct? I have been searching for info in relation to polymorphisms and it seems that they actually mean something in connection to a second cf mutation, but unfortunately I haven't been able to understand the medical terminology, therefore how they influence eachother and whether it has an impact on the disease. Could you kindly explain the relationship between delF508 and the above mentioned polymorphisms? Should we search for another mutation? Can it be that only one mutation and these polimorphisms caused her desease? Thank you, Ana Toma
    06.04.2014
    Please help me understand CF mutations.
    Hello, I previously asked this question which was not answered. I am hoping to receive some information. My husband and I are in the process of electing PGD and would like to know what clinical symptoms, if any, we can expect in offspring with the following mutations: Husband: one copy of F508 Del one copy each of D443Y;G576A;R668C 7T/9T Wife: one copy of M470V (no deletions or duplications, one benign sequence change) 7T/7T. My husband has CBAVD so we must elect IVF treatment. His sweat test was 40 and doctors are divided on a DX of CF. Thank you.
    26.07.2013
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