Seed ladder (vas deferens) interrupted in a baby
Hello, my son (18 months) has been operated due to a retained testicle and during the procedure, the physicians found that the seed ladder was interrupted for a length of 3 cm. They did not give any further information, only that it could be related to the retained testicle. I found in the internet that it could be a mild form of Cystic fibrosis. That frightened me a lot. Unfortunately we do not know, what about the other side, where the testicle is not retained. My question: can it be that the other seed ladder is normal? And could a mild form of CF be detected by the newborn CF-screening? And in case it would really be a mild form of CF: did my son inherit it from both of us? And would that mean that further children coud inherit CF from us? Or could be then only inherit a mild form of CF? Best regards,
Candida glabrata
Dear ladies and gentlemen, Candida glabrata has been found for the first time in my airway secretions (CF, 48 years old, female, FEV1 54%, MRGN3/4). I found a study from the university of Tuebingen, Germany from 2016 that drew the conclusion that a chronic or intermittend colonization can lead to a significant loss of lung function. As the fungus is hardly sensitive to Itraconazol, I am a bit worried. Is there any clinical experience on this topic? What kind of symptoms does it cause? How can it be differentiated from a bacterial infection? What kind of treatment is possible? Many thanks for your answer,
Trikafta and transplantation
Hello, my son is 20 years old, and is a CF patient with one deltaF508 mutations. Due to his extremly worsened lung function, his CF center recommended to take Trikafta. He got a liver transplant in 2017; this is the reason why he should discuss the take with his CF center. The center, however has no experience with transplanted patients and Trikafta. Do you have any information?
Is sleeping in a tent allowed for CF patients?
Rare mutation
Dear expert team, my son is 20 years old and suffers from CF with a combination of delF508 and 525 delT.-Mutation. I am interested to which group of mutations the second mutation belongs (exon 4-frameshift) and if my son was a candidate for the new triple combination of VX-445. Best regards,
Cbd oil (Cannabidiol)
Have studies been done regarding lung function / CF and CBD oil? Why and why not / what are the possible results?
Cf and echodens intestines
How many percent of the still unborn babies with CF will show echodense intestines during the 20-week ultrasound?
Dear expert team, our daughter has the mutation detal F508 and c.1730A>T. Is there any information about this combination? Thank you
Inhalative antibiotics during pregnancy
Hello, I am 30 years old and pregnant with my second child. During my first pregnancy I inhaled pulmozyme, aztreonam and hypertonic saline and did not think about it. I took the whole time cefuroxim as an oral antibiotic. During this pregnancy I informed myself via the internet and found reports that dehorted the usage of pulmozyme and aztreonam during pregnancy, now I do not know, what to do. I stopped cefuroxim in august and I am quite doing well. Do I harm my child with the inhaled drugs? My lung function value FEV1 is 84%. In my center I unfortunately get only insecure answers, as I would be the first pregnang woman for them. Many thanks for your answer.
Effects of atypic CF F508del/p.Thr582Ile
Dear expert team, I am 20 years old and a few years ago, the above mentioned mutation has been found, however the physicians were not able to give me a real prognosis. My sweat test was inbetween normal and pathologic. The mutation had been found after I had several pancreatitis episodes, however several anatomical anomalies had been found to be the reason for it (among others narrowing of the ductus and a pancreas divisum) and after an operation I had no symtoms anymore. All my lung function test had been normal so far and until now I did not have any problems with mucus in the lungs or problems to breathe, even when I had a cold that was not a problem for me. I would be interested if there is any information about this mutation. Best regards,
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