View Full Version : Advice about diagnosis please

09-28-2014, 12:52 AM
My 9 year old son is a carrier of F508del. We recently discovered this while trying to find out why he has had chronic diarrhea since the age of 2 years. He has never had any other symptoms of CF.
In the last 2 months we have been following strictly the Low-FODMAP diet and have managed to stop his chronic diarrhea if we follow it 100%. We did a full exome sequencing to identify a second mutation, but none were identified. We tested also my husband and I for CF mutations and found my husband to be a carrier also of F508del, and nothing for me.
The doctor says that to rule out CF and completely, we need to do deletion duplication of the CF gene but I don't understand what that means.
I'm wondering if you could advise me:
- could the digestive problems be due to carrier status of F508del? Is there a way we can confirm this?
- the only other sign of CF is that he has early aqueous wrinkling, which I've read can be linked to F508del. Would anyone suggest us doing the deletion duplication and what does this mean in layman's terms?
Thank you for any thoughts

09-28-2014, 08:42 AM
F508 del is a mutation that leads to digestive issues. Your son should be seen at an Approved Cystic Fibrosis Clinic and diagnosed by a CF Specialist. Delta F508 leads to pancreatic insufficiency, which means that the pancreas is not producing enough enzyme to properly digest food, which caused chronic diarrhea. This is a RED FLAG for CF also.

I would suggest a FULL CF SEQUENCING.

Good luck,

09-30-2014, 07:25 AM
Thank you Bill.
We did a full/whole exome sequencing and they only found the heterogzyte F508del mutation.
The CF sequencing for me revealed nothing, for my husband it revealed the same heterogzyte F508del.
Can I conclude now that my son is only carrier of F508del?
If yes, can I conclude that being a carrier is sufficient to have pancreatic insufficiency?
The genetics company (Centogene) is telling us that the only way of being 100% sure that there is no other CF mutation is to do deletion/duplication. I don't know what this means. Do you?
Thank you

09-30-2014, 08:25 AM
It could be it's a yet to be identified CF mutation. Hopefully you'll be able to find a proactive doctor who will treat the symptoms, treat it as if it is CF. I know there are a couple individuals on this site who have similar issues. I believe some have gone thru nasal differential testing.

09-30-2014, 09:47 AM
Let me try a practical approach here. I would ask a CF Center or a gastroenterologist familiar with CF - perhaps a trial with enzymes would also relieve the diarrhea, whether they find a second gene or not! It may be so much simpler than a strict diet. So many new mutations are being found. As a Mom I want to know what will relieve my child's symptoms whether they can label it or not.

09-30-2014, 11:09 AM
It means that your son needs a deletion/duplication scan. Yes he could be PI based upon a single mutation of Delta F508.


02-15-2015, 12:12 PM
The Cystic Fibrosis CFTR Gene Deletion or Duplication assay detects deletions and duplications within the promoter region and all 27 exons of the CFTR gene. Recent studies suggest that such rearrangements may account for 16% to 24% of mutant CFTR alleles not identified after extensive sequencing. Because of the shorter turnaround time of the CFTR deletion/duplication test, clinicians may prefer to request it first and order extensive sequencing only if the result is negative.

Individuals Suitable for Testing

Individuals with symptoms of classic or atypical CF who have <2 CFTR mutations detected with standard mutation screening

Individuals with a family history of a large deletion or duplication in the CFTR gene

Family members of individuals with CF whose mutations are unknown

06-14-2020, 03:06 AM
Shirts are always an indispensable item in the closet of men. Whether you go to work, go out, or go to a party, you all have a manly and elegant look. Do not forget to own yourself a few Korean men's shirts to have the opportunity to turn into the "white guy handsome" in the legends.

Korean men's shirts bring youthfulness and personality

When it comes to shirts, many people will think of stereotypes and rigidity. However, Korean men's shirts are not necessarily so. With the abundance and variety of designs, forms, Korean style men's shirts are being selected by many people, especially the young. No matter what type of person you are, you can still choose for yourself a suitable shirt.

Korean men's shirts have collars

Shirts with collars are still the standard style and many people choose the most now. This style is especially suitable in the office environment that needs seriousness and grooming in the way you dress. You can choose short-sleeved or long-sleeved shirt. Combined with trousers and shoes are exuding looks and elegance like a real marshal.


Men's shirts wide form

If you have a slightly oversized body, or do not like to wear tight áo sơ mi caro nam h*n quốc (https://www.loganstore.vn/ao-so-mi-nam-han-quoc) with wide designs will be the appropriate choice. The shirt does not have the waistline, chest or arms that are designed straight from top to bottom. So, a wide male form shirt makes you comfortable, even when exercising. However, you should only choose a shirt that is about 1 size wider than normal. Too wide will make you look quite messy and like being "swallowed" in clothes.

Korean men's shirts are long

A style that is popular with young people is the long shirt. The long form shirt shirt is indifferently draped to create a unique fashion style, personality that catches all eyes. And one thing is for sure, this style only suits tall guys. Those of you who have limited height don't be foolish, but make you become shorter in this oversized shirt.

Men's shirts are not neck

A neckless shirt combined with jeans

will bring a dynamic, youthful look for you when walking down the street or hanging out with friends. When combined with quan tay nam co lon (https://www.loganstore.vn/quan-tay-nam-size-lon) they become the perfect outfit to go to the event.


Depending on each body shape, each situation to choose a suitable shirt. If

you don't know what type of shirt you would like, contact Loganstore L&L men's fashion store for a free consultation .

How to crate Korean men's shirts

To create beautiful clothes, you need to know how to coordinate with Korean men's shirts. The most standard selection is still trousers and shoes or lazy shoes. You can combine your pants with a variety of shirts, like Korean striped men's shirts, ao so mi hoa tiet nam (https://www.loganstore.vn/ao-so-mi-nam-hoa-tiet) men's shirts, collared shirts, non-collared shirts… Wide and long-form shirts should only be worn. In addition, please obey the principle of color contrast ie dark pants with light-colored tops and vice versa.

Firstly, you need to choose ashirt ofmedium width and length (length through the hip bone). If it is too long or too wide, it will make the shirt look messy. Too short or too tight will make you confined and easy to slip.

After wearing and buttoning all buttons, smooth the shirt and put all the shirt into the pants. Then remember to fully button the buckle.

Raise your hands to make sure you are comfortable exercising. If both sides have excess fabric, then clip in to not be searched. Adjust the shirt so that the buttons are compatible with the button.

Use a belt to tie the belt, whether or not the pants fit. The belt will help you look more polite.

In the end, use your hand to smooth the lap from the belly button and back to the sides Thus the shirt will be pulled flat and tidy.

How to roll up Korean men's

shirts Properly sleeve dress is an equally important task when wearing shirts. There are some guys who like to keep their arms long, just close the button to make it work. In addition, you can refer to some ways to roll up men's shirts as below:

Dice basic type

This is the most traditional and popular sleeve roll. Just fold the cuffs, then fold 3-4 times higher. The sleeve height is up to you but should not be too high on the elbow, and expose at least 5-7cm of the wrist. This is suitable for all types of men's shirts and workplaces.

Dice like the Master

With this style of sleeves, you need to open the cuff of your wrist. Roll up the sleeves so that the cuffs of the cuffs are close to the elbows. Then, double-tap the sleeves twice, or turn two times in a row like the basic pattern above until they cover the wrists. This style is suitable for attending parties or important events.

It would be flawed if the men 's wardrobe lacked a few Korean men's shirts . Not only easy to wear, easy to coordinate but also a hot fashion trend in 2020. Please own yourself this collection of hot hit shirts to get ready to go wherever you go.