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genetics
I underwent DNA testing and F508del/IVS8-5T+(TG)12 mutations was detected, which was probably a direct cause of azoospermia caused by CBAVD. Beside "the lack of seminal vesicles and distal parts of spermatic ducts, which were not visualized in USG", there are no clinical symptoms of the disease. Are these mutations severe, are they associated with any clinical symptoms other than CBAVD, what are the perspectives for procreation with such bad results of DNA testing?
09.11.2010
Creon
How Does Creon© work?
05.10.2010
Changes of blood gas results via sports?
Dear ladies and gentlemen, I have started with regular sports (CF, 42 years old). Since then, my blood gas results have changed: before: pH-value 7.40 7.41 100.2 a.CO2-partial pressure [mmHg] 43.10 a.O2-partial pressure [mmHg] 63.50 Standard Bicarb [mmol/l] 26.70 Baseexcess [mmol/l] 2.00 a.O2-saturation [%] 92.55 Hemoglobin [g/lOOml] 15.60 PaO2 std [mmHg] 63.50 a.O2-content [Vol%] 19.54 after 3-weeks of sports: pH-value 7.40 7.41 100.2 a.CO2-partial pressure [mmHg] 28.50 a.O2-partial pressure [mmHg] 82.10 Standard Bicarb [mmol/l] 21.81 Baseexcess [mmol/l] -4.07 a.O2-saturation [%] 96.42 Hemoglobin [g/lOOml] 15.10 PaO2 std [mlIiHg] 89.52 a.O2-content [Vol%] 19.77 Are the changes of the CO2, O2, Baseexcess und O2-saturation caused by the regular movement? The values of the lung function improved a few promille. Many thanks
05.10.2010
Stomach pain
Dear expert team, I am the mother of a girl (9 years old) who has been diagnosed with CF at the age of 9 month. My daughter has a mild lung disease and pancreatic insufficiency. She gets a "standard therapy" for CF (mucolytics, pancreatic enzymes, vitamins and antibioitcs according to need). In the last week, my daughter complained about stomach pain, especially in the region of the right lower abomen. She did not have fever, nausea, vomiting, diarrhea or infections of the airways in the last month. 2 ultrasound investigations have been done and my daughter has been consulted by 3 pediatricians and surgeons. The ultrasound showed that the liver, pancreas, gall bladder, kidney, appendix appered normal. Only a few enlarged lymph nodes in the mesenterium could be found. Investigation of the stool and Giardia antigen - negative. Further investigations have not bee done. The physicians diagnosed a mesenteric lymphadenitis and prescribed only a symptomatic therapy (Trimebutine Maleat, Drotaverinum, Ibuprofen). But these drugs did not help. My daughter still has stomach pain, especially in the evenings and at night. Because I am not convinced that the right diagnose has been made I would like to ask you, which other investigations could we do in order to find the right diagnose. In case this diagnose would be confirmed after all, I would like to ask you if this presecribed symptomtic therapy is correct and sufficient. As I said before, after one week my daughter still has strong stomach pain. Could antibiotics be helpful in this case? Yours sincerely,
05.10.2010
Crumpled hands in case of water contact
I have just followed the question resp. the answer with interest. It strikes me that my daughter (2 years old) also shows very fast crumpeling of the hands when she is taking a bath, I just have read that this phenomenon is found also in carriers, even if it is not so distinct. Our other daughter (4 years old) does not suffer from CF, now my question, in what range of time do the hands get crumpled at a gene-carrier in comparison to the "non-gene-carrier"??? Can one make a comment on this at all? I know that this is not a secure statement about a carrier or non-carrier. But I find this a rather interesting phenomenon. Thanks
05.10.2010
Nasal polyps
Our child (9 years old) has nasal polyps in the right side of the nose. According to the opinion of the ENT-doctor, only in the ethmoidal sinus. The left side is free. For about half a year we are taking a cortisone containing nose spray without achieving a change of the polyps. Now an MRI is going to be done, in order to see everything in more detail compared to the ultrasound, however we have already been told, that it will probably come to an operative resection of the polyps. Are there any alternatives, that we could try before? Many thanks for your answer.
05.10.2010
Hyaluronic acid
Hello, on the 1st of September it has been in the media, that hyaluronic acid plays an important role in CF. (http://www.idw-online.de/pages/de/news384304). Can this give rise to hope or is it rather uninteresting for the patients? Many thanks for your answer.
05.10.2010
Can carriers of the CF gene can also have CF-like complaints ?
My daughter has serious lung problems and after many tests the conclusion is that she does no suffer from cystic fibrosis, but my daughter is a carrier. Can this contribute to her lung problems or is it not part of it ?
05.10.2010
CF or not ?!?!?
As baby I was tested for CF. Now I’m 36 years. After long considerations and more testing I received the final answer “no” but with obvious hesitation in the physician’s voice. My whole live I’ve been tired, I have mucus, suffer from sinusitis, I always have a cold and I always have a lot of stools. In the end I found a physician who diagnosed mild CF, and there are further investigations being done. I would really like to know whether I have CF or not. Thank you for your answer.
05.10.2010
Hygiene
I’m writing an essay on cystic fibrosis. But I need to know more about hygiene. Can you help me ?
05.10.2010
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