Topics

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
E1104X Mutation
Hello, My eldest son, 16 and a half years old, has cystic fibrosis with G542X / E1104X mutations. My mutation, E1104X, is native of the Maghreb (kabylie for my part but by searching on the net, I understand that there are children being homozygous for E1104X in Tunisia). This mutation is therefore not so rare, I would like to know if you could tell me which class it belongs to please? I cannot find this information on the net. Does a person with two class 1 mutations necessarily has a worse prognosis? It seems to me but I do not exactly remember that the pediatrician of my son told me suddenly that he had 2 mutations of class 1 (G542X being in class 1). Thank you. Cordially.
24.02.2017
Unlisted mutation: Research and treatment
Hello, We just learned the diagnosis of our baby. It has a mutation that is not listed. Will this affect his future treatment? In short, will it be less well treated than a patient with the delta 508 mutation for example? Cordially.
24.02.2017
Maghrebian mutations
Hello, Is it true that the mutations of persons of Maghrebian and sub-Saharian origin lead to lighter forms of cystic fibrosis? Thanks in advance. Cordially.
24.02.2017
Mutation 3199del6
Hello My 6 year old son has CF with mutations F508/3199del6. I try to find on the net the classification of mutation 3199del6 but I cannot find any information about it. I inform you that my son was not born in France, no neonatal screening was done where we live. According to your explanation, despite the fact that one person carries the F508 mutation which appears to be among the most severe, the association with a "lighter" mutation can alleviate the form of cystic fibrosis and have a properly functioning CFTR protein? Thanks and Happy Holidays
24.02.2017
Mutations F508del / L227R
Hello, My 3 year old son has cystic fibrosis that was diagnosed less than a year ago. The two mutations found were F508del and L227R. As we live in Morocco we do not have a genetic counseling center that can tell us the degree of severity of this type of mutations and how this will develop in the future. Currently he takes pancreatic enzymes and a Pseudomonas was identified in his sputum. I would like to have more information on the degree of severity of his case please. And actually, pulmonary side so far it has a good follow-up, no more Pseudomonas, a current treatment with colimycin in aerosol. On the other hand he has frequent and fatty stools since his birth. Since we detected his Illness of CF a year ago he takes at each meal the eurobiol in pellets per dosing spoon of 12500 IU. When the meal is fat, I pass to two spoons; Yet I see no improvement. Do I have to go to creon? I have to increase the doses? Thanks so much for your help and happy holidays at all.
24.02.2017
Vegetarian
Hello, I am 42 years old. I've CF (pre-transplantation exams done but not yet listed), no malnutrition problem, but diabetes. I would like to considerably reduce my consommation of meat for ethical reasons (and only the meat in a 1st time), replacing it with vegetable meat type Veggifood etc .. My question is simple: is it possible (even if of some constraints?) Or is it a heresy, medically speaking? Thank you.
14.02.2017
Follow-up
Hello, What are the alternatives for patients when follow up becomes too "complicated" in a CF Centre? What do you recommend ? Thank you
14.02.2017
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