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CF mutation carriers
My wife and I are carriers of a CF mutation. Four years ago my wife was pregnant and she and I were tested and found positive. Afterwards, since the pregnancy was advanced, the doctor took a sample from the fetus, which was found to be just fine, not even a carrier. My wife is now pregnant for the second time. What testing must we do to find out if the fetus suffers from CF?
24.02.2017
Lack of understanding of F508del-9T/Variant 5T
Hello my partner received his result of genetic analysis and it is noted that he is compound heterozygous F508del and 5T variant. Until then I understand but it is also noted (genotype [p.phe508del / 9T] + [- / 5T]) then why the 9T? Are theF508del and 9T located on the same chromosome? Does it mean that he has three CFTR genes? As for the 5T variant, it is not clear which one of the TG 11, the TG 12 or the TG13 is normal?
24.02.2017
Pulmonary injuries
Hello, Can you please explain me what types of lesions can be seen in a young asymptomatic patient and what treatments can be put in place. Our CF Centre talks about the possibility of perfectly silent and asymptomatic lesions. We question the interest of exposing a child to the radios of an XRay every year in the absence of clinical signs (infections, cough ...). Especially if it is just to find lesions for which there are no treatments. Thank you very much for your help. Cordially
24.02.2017
Research on animals
Hello Are animals used in the search for a cure for cystic fibrosis? Best regards
24.02.2017
Rhinopharyngitis
Hello, I asked a question recently about the posterior rhinorea and I had as a response that the nasal discharge was rare in CF patients. But why do CF children repeat nasal rhinopharyngitis (with posterior nasal discharge) if rhinorrhea is rare? Can only ENT involvement be a moderate form? A still clear discharge without fever with chronic dry cough can make one think of a cystic fibrosis? Thank you cordially
24.02.2017
Thrush
Hello, What can we do to prevent our 2 year old from getting thrush (candida fungus)? She has it regularly, especially after the antibiotic cures. It spoils life because she refuses to eat and it is very painful. Thank you for your help.
24.02.2017
Fumes and smoke
Hello, We would like to know if there are precautions, arrangements to be made in relation to fumes and smoke emitted during concerts, shows… for people with cystic fibrosis? Is it better to avoid them? Do they carry risks? You can also find this kind of machine to make smoke in certain stores or to diffuse vapors of essential oils, what precautions are to be taken? Thank you beforehand, Cordially.
24.02.2017
CF and populations
Hello, I would like to know why, when we do research on cystic fibrosis, it is very often said that this disease mainly affects Caucasian (European) populations. Outside, I come from Sub-Saharan Africa and my husband is a native of the Maghreb and our child suffers from cystic fibrosis. Likewise, I often see in the CF Cenre patients of African, Maghrebian or Asian origin. Hence my great astonishment at the announcement of the diagnosis of my baby because when I was told about genetic disease I immediately thought about sickle cell anemia. Is it because the statistics are based only on patients in Europe and North America, or is there really a genetic predisposition of Caucasians for cystic fibrosis? I hope my question will not interfere. Thank you.
24.02.2017
Discopathy at 14 years, Propionibacterium acnes, growth
Hello, Our 14-year-old teen with cystic fibrosis experienced severe back pain in May-June. He finally performed an MRI in August with this result: On the contrary, there exists in L4-L5 and L5-S1 a disc-shaped bulge with no disco-radicular conflict or a repercussion on the foramens. The bulge predominates in L4-L5. Preservation of the water signal of the disc. The analysis of the medullary cord does not find an anomaly of the cervico-occipital hinge, no bone marrow attached. No spinal signal abnormality. By investigating a little, and limiting myself to reliable sources, I realized that I had not understood the rarity of the case of (double) discopathy at this age. What particularly disturbs me is to find neither cause nor trauma to explain his condition. Two doctors (general practitioners) of my friends told me that the youngest patients diagnosed with discopathy were 17-18 years old, but that it was really rare (3-4 cases). And 14 years, never. One of them poses, with great precaution, the question of a link, more direct than one might think, with his CF. It recalls a hypothesis that was relayed by all media for 48 hours when it was "released" in 2013. These are two studies published in The European Spine Journal that hypothesize a bacterium causes low back pain and hernias, namely Propionibacterium acnes. These are the observations and the questions we ask ourselves: - CF is a rare disease. - a painful double-discopathy when one is a teenager, it is even rarer, it seems. (I did not find any figures). Even if we are aware that the CF is not protective for anything else, we can nevertheless find that the probability of having the two situations without any link between them is extremely low. I cannot dwell on the nature of this link: - bacteriological, - iatrogenic (and here I think of the different treatments and the respiratory physiotherapy with great repeated hyperpressions), - secondary environmental? The case of my son does not justify a biopsy to answer the hypothesis of the presence or not of Propionibacterium acnes, but is the taking of the antibiotic evoked possible? About the ventoline to confirm a case of asthma: if the remedy works, it is that the presumed cause was the right one. It is probably extremely simplistic. I am also making the observation, probably simplistic again, that this germ, Propionibacterium acnes, is a bacterium linked to acne, and that the double-discopathy of my son appears in full adolescence. Suspecting a link may be very hasty, but I do not know about the possibilities of circulating this bacterium in the human body. Source really serious and complete (but long), very convincing: -> http://goo.gl/HcvARO Very popular article (but short!): -> http://goo.gl/0vcLqL Reference studies: - (Euronextine): a double-blind randomized clinical controlled trial of efficacy, Eur Spine J. (Apr. 22, 2006) (4): 697-707. Doi: 10.1007 / s00586-013-2675-y - Is low back pain after disc herniation with Modic Type 1 changes a low-grade infection ?, Eur Spine J. 2013 Apr; 22 (4): 697-707. Doi: 10.1007 / s00586-013-2736-2 The hypothesis is recent (2013), but the figures are actually very troubling on the rate of Propionibacterium Acnes in patients with back pain or discopathy. Another explanation is envisaged by the physiotherapist who follows our son: as part of his growth, his muscles would be "short". I understand the idea, but I do not think it can explain the magnitude of the problems. The physiotherapist showed him stretches to do regularly. I am not looking for an answer on the possible link between CF and the presence of Propionibacterium acnes, it is a matter of large studies. I just wanted to emphasize that the assumption of its presence cannot be excluded from the outset. My questions are: - If one accepts the possibility of the presence of Propionibacterium acnes, and if the condition of the back of my son is not stable, can / should it be envisaged placing under antibio "to see"? How to measure whether his condition is stable or evolutionary? Should a new review be scheduled within a timeframe? Are bone problems related to cystic fibrosis itself considered? - Is the explanation of the physiotherapist possible to explain a phenomenon of this magnitude? Thank you in advance for your time.
24.02.2017
F508/5T
Hello, is it possible to have these 2 genes and have a staphylococcus aureus in a throat sampling for bronchiolitis? Because the 5T gene is a mild gene and I have never heard of Staphylococcus aureus for a patient with this combination of genes. Cordially
24.02.2017
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