Daughter newly diagnosed

mbarloewen

New member
Hello,

My wife and I just had our first child and our daughter had Meconium Illeous at birth that required surgery. We just got the final genetic testing back yesterday that confirms a diagnosis of CF as she has one copy of the delta f508 mutation (which appears to be the most common and one I've found tons of discussion on) and also one copy of a mutation called 186 deletion T. This mutation I can find very little information on.

We were very shocked to learn our daughter has CF because we've no history of it in our family histories as far back as we know. So we are both trying to educate ourselves as quickly as we can.

We are being referred to the treatment center at Childrens Hospital in Los Angeles as well as referals to various gasto-intestinal, pulinary and genetic specialists, but it seems like it might be a few days before we see them.

In the meantime, I guess I'm wondering a few things...

1) Is there any connection between what mutated genes you have and the symptoms you experience?

2) Is there anywhere on the web or elsewhere that I can find information about the 186 deletion T mutation? Anyone here have any experience with this mutation?

I've been reading through this discussion forum and I find it heartening and I would very much appreciate the feedback of the community on the above questions.

Sincerely,

Mike Barloewen
 

mbarloewen

New member
Hello,

My wife and I just had our first child and our daughter had Meconium Illeous at birth that required surgery. We just got the final genetic testing back yesterday that confirms a diagnosis of CF as she has one copy of the delta f508 mutation (which appears to be the most common and one I've found tons of discussion on) and also one copy of a mutation called 186 deletion T. This mutation I can find very little information on.

We were very shocked to learn our daughter has CF because we've no history of it in our family histories as far back as we know. So we are both trying to educate ourselves as quickly as we can.

We are being referred to the treatment center at Childrens Hospital in Los Angeles as well as referals to various gasto-intestinal, pulinary and genetic specialists, but it seems like it might be a few days before we see them.

In the meantime, I guess I'm wondering a few things...

1) Is there any connection between what mutated genes you have and the symptoms you experience?

2) Is there anywhere on the web or elsewhere that I can find information about the 186 deletion T mutation? Anyone here have any experience with this mutation?

I've been reading through this discussion forum and I find it heartening and I would very much appreciate the feedback of the community on the above questions.

Sincerely,

Mike Barloewen
 

mbarloewen

New member
Hello,

My wife and I just had our first child and our daughter had Meconium Illeous at birth that required surgery. We just got the final genetic testing back yesterday that confirms a diagnosis of CF as she has one copy of the delta f508 mutation (which appears to be the most common and one I've found tons of discussion on) and also one copy of a mutation called 186 deletion T. This mutation I can find very little information on.

We were very shocked to learn our daughter has CF because we've no history of it in our family histories as far back as we know. So we are both trying to educate ourselves as quickly as we can.

We are being referred to the treatment center at Childrens Hospital in Los Angeles as well as referals to various gasto-intestinal, pulinary and genetic specialists, but it seems like it might be a few days before we see them.

In the meantime, I guess I'm wondering a few things...

1) Is there any connection between what mutated genes you have and the symptoms you experience?

2) Is there anywhere on the web or elsewhere that I can find information about the 186 deletion T mutation? Anyone here have any experience with this mutation?

I've been reading through this discussion forum and I find it heartening and I would very much appreciate the feedback of the community on the above questions.

Sincerely,

Mike Barloewen
 
M

Mommafirst

Guest
Hi Mike, <br>
<br>
I'm sorry to hear about your diagnosis. It was only a few months ago that I was in your place. I have learned soooo much since then, and you will too!! Welcome to this site -- there are amazing, inspirational people all around.<br>
<br>
I don't know much about the 186 deletion, but have you tried the database at sick kids??<br>
<br>
<a target=_blank class=ftalternatingbarlinklarge href="http://http://www.genet.sickkids.on.ca/cftr/app">sick kids mutation database</a><br>
<br>
My daughter has a pretty rare and unstudied mutation and I have been working with my geneticist to get more information. She called Ambry to discover the amount of diagnosed cases with the mutation (only 6 including my daughter) and since they don't follow the cases, she wasn't able to get MUCH else. But we keep looking, waiting, asking. It gets frustrating, but in the end.... the mutation really doesn't matter all that much!! The progression and severity of CF seems to be dependent on more than just a mutation. We were told my daughter would likely have very few symptoms in the early days, and yet she has been presenting more than they expected. Its just not clear. <br>
<br>
If there are answers to be found, the people around here will point you in the right direction. Best of luck and welcome to the site.
 
M

Mommafirst

Guest
Hi Mike, <br>
<br>
I'm sorry to hear about your diagnosis. It was only a few months ago that I was in your place. I have learned soooo much since then, and you will too!! Welcome to this site -- there are amazing, inspirational people all around.<br>
<br>
I don't know much about the 186 deletion, but have you tried the database at sick kids??<br>
<br>
<a target=_blank class=ftalternatingbarlinklarge href="http://http://www.genet.sickkids.on.ca/cftr/app">sick kids mutation database</a><br>
<br>
My daughter has a pretty rare and unstudied mutation and I have been working with my geneticist to get more information. She called Ambry to discover the amount of diagnosed cases with the mutation (only 6 including my daughter) and since they don't follow the cases, she wasn't able to get MUCH else. But we keep looking, waiting, asking. It gets frustrating, but in the end.... the mutation really doesn't matter all that much!! The progression and severity of CF seems to be dependent on more than just a mutation. We were told my daughter would likely have very few symptoms in the early days, and yet she has been presenting more than they expected. Its just not clear. <br>
<br>
If there are answers to be found, the people around here will point you in the right direction. Best of luck and welcome to the site.
 
M

Mommafirst

Guest
Hi Mike, <br>
<br>
I'm sorry to hear about your diagnosis. It was only a few months ago that I was in your place. I have learned soooo much since then, and you will too!! Welcome to this site -- there are amazing, inspirational people all around.<br>
<br>
I don't know much about the 186 deletion, but have you tried the database at sick kids??<br>
<br>
<a target=_blank class=ftalternatingbarlinklarge href="http://http://www.genet.sickkids.on.ca/cftr/app">sick kids mutation database</a><br>
<br>
My daughter has a pretty rare and unstudied mutation and I have been working with my geneticist to get more information. She called Ambry to discover the amount of diagnosed cases with the mutation (only 6 including my daughter) and since they don't follow the cases, she wasn't able to get MUCH else. But we keep looking, waiting, asking. It gets frustrating, but in the end.... the mutation really doesn't matter all that much!! The progression and severity of CF seems to be dependent on more than just a mutation. We were told my daughter would likely have very few symptoms in the early days, and yet she has been presenting more than they expected. Its just not clear. <br>
<br>
If there are answers to be found, the people around here will point you in the right direction. Best of luck and welcome to the site.
 
T

tammykrumrey

Guest
I am sorry about the diagnoses of CF for your daughter. We also did not have any known family history of CF when my nephew was dx almost 16 years ago. And since then, I have gone on to have two daughters, who both have CF.

I do not know anything about the 186 deletion T that you have asked about. I, too, have always been very curious regarding the specific mutations, and have had problems finding information regarding one of ours (we have the delF508 and 1898+1G>A). I sometimes have searched just 'CF mutations' and not the specific mutation and have found some information.

But I will share what I know, but I am not a doctor or a specialist, so please take it lightly<img src="i/expressions/face-icon-small-smile.gif" border="0">

I know that delF508 is a class II mutation (and the other one my daughters carry is a class I mutation). Class I, II and III mutations tend to be more severe in the pancreatic issues. There are also class IV and V mutations, but they tend to not be so severe in pancreatic issues, but there are always those who will have many problems. It is not clear cut. There is not a specific study that supports that the class of mutations have anything to do with lung involvement or how quickly someone with CF will develop lung problems.

And two people with the same mutations can still have very different symptoms. There are some families in which one sibling may have passed away as a teenager and the other can live to be 50+. There are many factors besides mutations that influence the health of one with CF.

I would also suggest that you go to the family section, and maybe ask some of your specific gene mutations to the Ambry thread at the top.

Good luck and I hope daughter will be home soon with you and your wife. I know this dx comes as such a shock. Our family has been through it three times. It never got easier as it went along. You have come to the right place to ask your questions. I am sure that others will have more information for you. I am just going off the top of my head as to what I know about the mutations.
 
T

tammykrumrey

Guest
I am sorry about the diagnoses of CF for your daughter. We also did not have any known family history of CF when my nephew was dx almost 16 years ago. And since then, I have gone on to have two daughters, who both have CF.

I do not know anything about the 186 deletion T that you have asked about. I, too, have always been very curious regarding the specific mutations, and have had problems finding information regarding one of ours (we have the delF508 and 1898+1G>A). I sometimes have searched just 'CF mutations' and not the specific mutation and have found some information.

But I will share what I know, but I am not a doctor or a specialist, so please take it lightly<img src="i/expressions/face-icon-small-smile.gif" border="0">

I know that delF508 is a class II mutation (and the other one my daughters carry is a class I mutation). Class I, II and III mutations tend to be more severe in the pancreatic issues. There are also class IV and V mutations, but they tend to not be so severe in pancreatic issues, but there are always those who will have many problems. It is not clear cut. There is not a specific study that supports that the class of mutations have anything to do with lung involvement or how quickly someone with CF will develop lung problems.

And two people with the same mutations can still have very different symptoms. There are some families in which one sibling may have passed away as a teenager and the other can live to be 50+. There are many factors besides mutations that influence the health of one with CF.

I would also suggest that you go to the family section, and maybe ask some of your specific gene mutations to the Ambry thread at the top.

Good luck and I hope daughter will be home soon with you and your wife. I know this dx comes as such a shock. Our family has been through it three times. It never got easier as it went along. You have come to the right place to ask your questions. I am sure that others will have more information for you. I am just going off the top of my head as to what I know about the mutations.
 
T

tammykrumrey

Guest
I am sorry about the diagnoses of CF for your daughter. We also did not have any known family history of CF when my nephew was dx almost 16 years ago. And since then, I have gone on to have two daughters, who both have CF.

I do not know anything about the 186 deletion T that you have asked about. I, too, have always been very curious regarding the specific mutations, and have had problems finding information regarding one of ours (we have the delF508 and 1898+1G>A). I sometimes have searched just 'CF mutations' and not the specific mutation and have found some information.

But I will share what I know, but I am not a doctor or a specialist, so please take it lightly<img src="i/expressions/face-icon-small-smile.gif" border="0">

I know that delF508 is a class II mutation (and the other one my daughters carry is a class I mutation). Class I, II and III mutations tend to be more severe in the pancreatic issues. There are also class IV and V mutations, but they tend to not be so severe in pancreatic issues, but there are always those who will have many problems. It is not clear cut. There is not a specific study that supports that the class of mutations have anything to do with lung involvement or how quickly someone with CF will develop lung problems.

And two people with the same mutations can still have very different symptoms. There are some families in which one sibling may have passed away as a teenager and the other can live to be 50+. There are many factors besides mutations that influence the health of one with CF.

I would also suggest that you go to the family section, and maybe ask some of your specific gene mutations to the Ambry thread at the top.

Good luck and I hope daughter will be home soon with you and your wife. I know this dx comes as such a shock. Our family has been through it three times. It never got easier as it went along. You have come to the right place to ask your questions. I am sure that others will have more information for you. I am just going off the top of my head as to what I know about the mutations.
 

angelas

New member
Same here with no history in the family. It seems that way with alot of people I have talked to. My advise is read all that you can and stay informed. We had no internet or web sites when my daughter was born. It helps alot to have people who are in the same situation to talk to. Hang in there

Angelas
 

angelas

New member
Same here with no history in the family. It seems that way with alot of people I have talked to. My advise is read all that you can and stay informed. We had no internet or web sites when my daughter was born. It helps alot to have people who are in the same situation to talk to. Hang in there

Angelas
 

angelas

New member
Same here with no history in the family. It seems that way with alot of people I have talked to. My advise is read all that you can and stay informed. We had no internet or web sites when my daughter was born. It helps alot to have people who are in the same situation to talk to. Hang in there

Angelas
 

mbarloewen

New member
I just want to say thanks for the responses to my original questions. I really appreciate the information conveyed. Happily for my wife and I, we brought home little Abigail from the hospital on Sunday evening after 30 days in the NICU. Having her home, makes facing the CF diagnoses much easier.

Sincere thanks to you all,

Mike
 

mbarloewen

New member
I just want to say thanks for the responses to my original questions. I really appreciate the information conveyed. Happily for my wife and I, we brought home little Abigail from the hospital on Sunday evening after 30 days in the NICU. Having her home, makes facing the CF diagnoses much easier.

Sincere thanks to you all,

Mike
 

mbarloewen

New member
I just want to say thanks for the responses to my original questions. I really appreciate the information conveyed. Happily for my wife and I, we brought home little Abigail from the hospital on Sunday evening after 30 days in the NICU. Having her home, makes facing the CF diagnoses much easier.

Sincere thanks to you all,

Mike
 

Emily65Roses

New member
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).

One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).

As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.

There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.

<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR</i>

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.

I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.

Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).

This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

Emily65Roses

New member
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).

One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).

As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.

There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.

<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR</i>

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.

I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.

Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).

This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

Emily65Roses

New member
I was born much the same as your Abigail. Meconium ileus, surgery to remove it, CF dx (diagnosis).

One quick note I like to make because it seems like news to most people... having no family history (as you've recently found out), means zilch. My dad has a sister with 3 kids, my mom had 5 siblings (I have something like 13 cousins), and I am still the first and ONLY one with CF (that includes my sister, she doesn't even carry the gene).

As for mutations, they <i>can</i> indicate your symptoms, but it's not black and white. Everything I will say next will be a generalization. There's a pattern to it, but it is not <i>always</i> going to hold true.

There are, as was briefly mentioned, Classes I, II, III, IV, and V. Class I is the worst. Class V is the mildest. Delta F508 (which is indeed the most common CF gene in the United States --- it's not the same everywhere else... I know the most common in Israel is w1282x) is a Class II. It's not quite as simple as "Class I is the worst" even though that's the basic trend. They are put in different Classes based on what exactly the malfunction in the gene is.

<i>Class I: Defective protein production with premature termination of CFTR production. Class 1 mutations produce few or no functioning CFTR chloride channels

Class II: Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function

Class III: Defective regulation of CFTR even though it is able to reach the apical cell surface

Class IV: CFTR reaches the apical surface but conduction through the channel is defective

Class V: Associated with reduced synthesis of functional CFTR</i>

(Source: <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm">http://www.cysticfibrosismedic...CFdocs/CFText/gene.htm</a> )

Everything in this following paragraph is simply my interpretation of that information above, in easier to understand terms. I may be a little off in explaining them, so don't quote me. If anyone understands it better, feel free to correct me where necessary.
The CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It's basically a channel between cells that doesn't work right in CFers. Class I, in lamen's terms, as it says above, produce no or few CFTRs. Class II has CFTRs but they don't travel to the right places, Class III has CFTRs, and they get to the right place, they're just not 100% functional. Class IV the CFTRs are there, they get to the right place, and they work well, but the channel creates a problem. And Class V has CFTRs that function correctly, just not all the time (basically, they have some working ones and some not).

As you can see, the descriptions of the defect get milder as the Class number gets higher. You go from "no CFTRs" in a Class I, to "sometimes they don't work" in a Class V. Big difference.

I have tried to look for "186 deletion T" and can't find anything (I found many on the <a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/Home.html">sick kids data base</a> that said "Deletion of T at... various numbers, but coudln't find a Deletion of T at 186). I copied the link again, because the link that Mommafirst Heather (good idea to suggest it! <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) posted didn't work for me. I wasn't sure if it was just my computer or not. And I wanted to make sure you could get at that website if you like. Anyways, back to 186 Deletion T... the note of "deletion" makes me think it's a Class I. This is not necessarily true. I'm just deducing to the best of my abilities.

Having said that, I myself have one Delta F508 (Class II), and another one called 1898+1G>A (Class I). When I was born in 1984, my parents were told not to expect to see me live past 18. I am now 23, engaged, going to college, all that junk. On top of that, my CF is still "moderate." That is to say, I still have 70% of my lung function (you aren't really failing until your baseline becomes 30% or lower).

This is a WHOLE lot of scientific babble to swallow at once, but I couldn't figure out a way to put it any simpler (without omitting information), so I hope you can find your way around it. I just put in that last paragraph about me to give you a little boost, in case you needed one. Kids born these days with CF are doing LOADS better than us old CF farts, because the new babies have the advantage of the proper medical care from day one that CF adults didn't have in most cases. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

damiensmom

New member
I found my sons mutation info on pub med. enter mutation then the seuence / cystic fibrosis. Maybe youll get info like I did I also found out what part of the world it is prevelant.
 

damiensmom

New member
I found my sons mutation info on pub med. enter mutation then the seuence / cystic fibrosis. Maybe youll get info like I did I also found out what part of the world it is prevelant.
 
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