Delta F508 / R117H-7T Article

A

AbbysMama

New member
Found this while doing some additional research on Abby's mutations. This article seems to be pretty recent, and it was published after we did all of our initial research on these two CF genes. I was glad to see a little more out there.

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&">Delta F508 and R117H-7T Article</a>

Em
 
A

AbbysMama

New member
Found this while doing some additional research on Abby's mutations. This article seems to be pretty recent, and it was published after we did all of our initial research on these two CF genes. I was glad to see a little more out there.

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&">Delta F508 and R117H-7T Article</a>

Em
 
A

AbbysMama

New member
Found this while doing some additional research on Abby's mutations. This article seems to be pretty recent, and it was published after we did all of our initial research on these two CF genes. I was glad to see a little more out there.

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&">Delta F508 and R117H-7T Article</a>

Em
 
A

AbbysMama

New member
Found this while doing some additional research on Abby's mutations. This article seems to be pretty recent, and it was published after we did all of our initial research on these two CF genes. I was glad to see a little more out there.

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&">Delta F508 and R117H-7T Article</a>

Em
 
A

AbbysMama

New member
Found this while doing some additional research on Abby's mutations. This article seems to be pretty recent, and it was published after we did all of our initial research on these two CF genes. I was glad to see a little more out there.

<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/118/3/1260?submit.y=14&submit.x=161&submit=sendit&gca=118%2F3%2F1260&">Delta F508 and R117H-7T Article</a>

Em
 
K

ktsmom

New member
That is an incredibly interesting article. It sheds some light for me on the clinical reasoning behind "atypical" and/or "genetic diagnosis" when used in conjunction with CF.
 
K

ktsmom

New member
That is an incredibly interesting article. It sheds some light for me on the clinical reasoning behind "atypical" and/or "genetic diagnosis" when used in conjunction with CF.
 
K

ktsmom

New member
That is an incredibly interesting article. It sheds some light for me on the clinical reasoning behind "atypical" and/or "genetic diagnosis" when used in conjunction with CF.
 
K

ktsmom

New member
That is an incredibly interesting article. It sheds some light for me on the clinical reasoning behind "atypical" and/or "genetic diagnosis" when used in conjunction with CF.
 
K

ktsmom

New member
That is an incredibly interesting article. It sheds some light for me on the clinical reasoning behind "atypical" and/or "genetic diagnosis" when used in conjunction with CF.
 
L

LouLou

New member
Very interesting. I found this part very disturbing.

"Finally, a case series focusing on adult men with CBAVD included 2 men with the F508/R117H-7T genotype who had mildly elevated sweat chloride concentrations (50 and 67 mmol/L) and normal pulmonary-function tests (forced expiratory volume in 1 second > 100% of predicted).24 These men were seen at a center in which many patients with CF are infected with Burkholderia cepacia. When they had bronchoalveolar lavage performed, both men grew strains of B cepacia (genomovars 4 and 11) from their lower airways.24 "

All of you with children with cf should be asking regularly of your cf clinic what they are doing to reduce the chances of cross contamination.
 
L

LouLou

New member
Very interesting. I found this part very disturbing.

"Finally, a case series focusing on adult men with CBAVD included 2 men with the F508/R117H-7T genotype who had mildly elevated sweat chloride concentrations (50 and 67 mmol/L) and normal pulmonary-function tests (forced expiratory volume in 1 second > 100% of predicted).24 These men were seen at a center in which many patients with CF are infected with Burkholderia cepacia. When they had bronchoalveolar lavage performed, both men grew strains of B cepacia (genomovars 4 and 11) from their lower airways.24 "

All of you with children with cf should be asking regularly of your cf clinic what they are doing to reduce the chances of cross contamination.
 
L

LouLou

New member
Very interesting. I found this part very disturbing.

"Finally, a case series focusing on adult men with CBAVD included 2 men with the F508/R117H-7T genotype who had mildly elevated sweat chloride concentrations (50 and 67 mmol/L) and normal pulmonary-function tests (forced expiratory volume in 1 second > 100% of predicted).24 These men were seen at a center in which many patients with CF are infected with Burkholderia cepacia. When they had bronchoalveolar lavage performed, both men grew strains of B cepacia (genomovars 4 and 11) from their lower airways.24 "

All of you with children with cf should be asking regularly of your cf clinic what they are doing to reduce the chances of cross contamination.
 
L

LouLou

New member
Very interesting. I found this part very disturbing.

"Finally, a case series focusing on adult men with CBAVD included 2 men with the F508/R117H-7T genotype who had mildly elevated sweat chloride concentrations (50 and 67 mmol/L) and normal pulmonary-function tests (forced expiratory volume in 1 second > 100% of predicted).24 These men were seen at a center in which many patients with CF are infected with Burkholderia cepacia. When they had bronchoalveolar lavage performed, both men grew strains of B cepacia (genomovars 4 and 11) from their lower airways.24 "

All of you with children with cf should be asking regularly of your cf clinic what they are doing to reduce the chances of cross contamination.
 
L

LouLou

New member
Very interesting. I found this part very disturbing.

"Finally, a case series focusing on adult men with CBAVD included 2 men with the F508/R117H-7T genotype who had mildly elevated sweat chloride concentrations (50 and 67 mmol/L) and normal pulmonary-function tests (forced expiratory volume in 1 second > 100% of predicted).24 These men were seen at a center in which many patients with CF are infected with Burkholderia cepacia. When they had bronchoalveolar lavage performed, both men grew strains of B cepacia (genomovars 4 and 11) from their lower airways.24 "

All of you with children with cf should be asking regularly of your cf clinic what they are doing to reduce the chances of cross contamination.
 
M

Mommafirst

Guest
Excellent article, Em. I wish there were these kinds of article available regarding Alyssa's mutation combination, but I was able to pull quite a bit from this for us too. Since her one mutation is so rare, it has been assumed to be sort of like the R117H, possibly asymptomatic. But Alyssa is already showing mild peribronchial thickening -- as was mentioned in the article.

Thanks for sharing.
 
M

Mommafirst

Guest
Excellent article, Em. I wish there were these kinds of article available regarding Alyssa's mutation combination, but I was able to pull quite a bit from this for us too. Since her one mutation is so rare, it has been assumed to be sort of like the R117H, possibly asymptomatic. But Alyssa is already showing mild peribronchial thickening -- as was mentioned in the article.

Thanks for sharing.
 
M

Mommafirst

Guest
Excellent article, Em. I wish there were these kinds of article available regarding Alyssa's mutation combination, but I was able to pull quite a bit from this for us too. Since her one mutation is so rare, it has been assumed to be sort of like the R117H, possibly asymptomatic. But Alyssa is already showing mild peribronchial thickening -- as was mentioned in the article.

Thanks for sharing.
 
M

Mommafirst

Guest
Excellent article, Em. I wish there were these kinds of article available regarding Alyssa's mutation combination, but I was able to pull quite a bit from this for us too. Since her one mutation is so rare, it has been assumed to be sort of like the R117H, possibly asymptomatic. But Alyssa is already showing mild peribronchial thickening -- as was mentioned in the article.

Thanks for sharing.
 
M

Mommafirst

Guest
Excellent article, Em. I wish there were these kinds of article available regarding Alyssa's mutation combination, but I was able to pull quite a bit from this for us too. Since her one mutation is so rare, it has been assumed to be sort of like the R117H, possibly asymptomatic. But Alyssa is already showing mild peribronchial thickening -- as was mentioned in the article.

Thanks for sharing.
 
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