Is it okay to ask a few questions here? I feel like I’m reading mixed messages online. My daughter is heterozygous for F508del and R75Q. I read from googling that R75Q is not known to cause CF but then I see it’s included as a variant for some of these meds I see online like Trikafta? Why would it be included if it doesn’t cause CF? And I see that some carriers have CF related disorders? Is that something I should keep in the back of my mind? Like she has digestive issues but nothing we’ve ever been able to nail down definitively and now I wonder if they could be related to these mutations/variants? I’m just trying to wrap my head around some stuff right now and wondering if I should be asking our pedi more questions. Or maybe I’m just over thinking everything and am way off base?
Also, can I ask you opinion on these screening results? For some background - she had her newborn screening which showed elevated IRT but no one ever mentioned it to me. I found out when I requested her hospital records in preparation for a potential move out of state. Around that same time, my husband and I were doing 23andMe tests for genealogy purposes so we decided to do one for her as well and we included the health results, which came back showing she’s a carrier for CF (as is my husband). That’s when I contacted her pedi. They ran the CF panel (entire gene sequence) and confirmed carrier status. These were the results that came back. Originally all I could see was that she’s a carrier but recently my MyChart account was reset and now I can see additional notes and results that weren’t there before, like these -
RESULT: HETEROZYGOUS FOR c.1521 1523delCTT (p.Phe508DEL) CF MUTATION AND c.224G>A (p.Arg75GIn) CFTR VARIANT INTERPRETATION: Sequencing of the entire coding region and splice junction sites of the CFTR gene revealed that the patient is positive for one copy each of the c.1521 1523delCTT (p.Phe508Del) CF mutation and the c.224G>A (p.Arg75GIn) CFTR variant. At this time, we cannot determine if the c.1521 1523delCTT (p.Phe508Del) and the c.224G>A (p.Arg75GIn) variants are located on the same (in cis) or different (in trans) chromosomes. Family studies will be necessary to determine the phase of these variants. Genetic counseling is recommended.
COMMENTS: The status of the intron 9 polymorphisms are 7T/9T and 10TG/11TG. Analysis of the p.Arg75GIn variant using bioinformatics tools (e.g. SIFT, PolyPhen-2 and Mutation Taster) for the prediction of the e
... keep reading on reddit ➡I don't want to step on anybody's toes here, but the amount of non-dad jokes here in this subreddit really annoys me. First of all, dad jokes CAN be NSFW, it clearly says so in the sub rules. Secondly, it doesn't automatically make it a dad joke if it's from a conversation between you and your child. Most importantly, the jokes that your CHILDREN tell YOU are not dad jokes. The point of a dad joke is that it's so cheesy only a dad who's trying to be funny would make such a joke. That's it. They are stupid plays on words, lame puns and so on. There has to be a clever pun or wordplay for it to be considered a dad joke.
Again, to all the fellow dads, I apologise if I'm sounding too harsh. But I just needed to get it off my chest.
Do your worst!
I'm surprised it hasn't decade.
For context I'm a Refuse Driver (Garbage man) & today I was on food waste. After I'd tipped I was checking the wagon for any defects when I spotted a lone pea balanced on the lifts.
I said "hey look, an escaPEA"
No one near me but it didn't half make me laugh for a good hour or so!
Edit: I can't believe how much this has blown up. Thank you everyone I've had a blast reading through the replies 😂
It really does, I swear!
Because she wanted to see the task manager.
Heard they've been doing some shady business.
They’re on standbi
Pilot on me!!
Nothing, he was gladiator.
Dad jokes are supposed to be jokes you can tell a kid and they will understand it and find it funny.
This sub is mostly just NSFW puns now.
If it needs a NSFW tag it's not a dad joke. There should just be a NSFW puns subreddit for that.
Edit* I'm not replying any longer and turning off notifications but to all those that say "no one cares", there sure are a lot of you arguing about it. Maybe I'm wrong but you people don't need to be rude about it. If you really don't care, don't comment.
What did 0 say to 8 ?
" Nice Belt "
So What did 3 say to 8 ?
" Hey, you two stop making out "
When I got home, they were still there.
I won't be doing that today!
[Removed]
Where ever you left it 🤷♀️🤭
Or would that be too forward thinking?
This morning, my 4 year old daughter.
Daughter: I'm hungry
Me: nerves building, smile widening
Me: Hi hungry, I'm dad.
She had no idea what was going on but I finally did it.
Thank you all for listening.
There hasn't been a post all year!
It was about a weak back.
You take away their little brooms
I’ve been working on a coop Sci-Fi dungeon crawler for the past several months, wanting to get an idea if the direction I’m going will interest others. The bellow is a taster of what I’m working on be great to hear others thoughts if they wish to share.
The basic premise is your team has been sent to a space station by the company to investigate why contact has been lost. You soon discover an alien bacteria being researched has mutated and changed the residents of the station into grotesque shadows of their former selves. You need to get the research and get out alive. In short imagine The Thing meets Dead space.
Game play revolves around your team playing a three act story by selecting two random missions and then setting the ship to self destruct in the final act. Your team then navigates the ship floors to complete the missions. The ship floor is always random and you reveal tiles from a shuffled stack as you open doors. Each tile you place randomly spawns Monsters from a monster deck, and they all want to tear you to bits. So blast them or get up close and personal with sharp knives and pointy sticks.
Combat uses a custom upgradable dice mechanic that has a three colour tear system for the dice. Finding weapon mods like scopes, extended mags and other specialist equipment increase the dice tears and so increases damage output, accuracy, and amount of shots per weapon. But beware ammo is few and far between and if you make to much noise more creatures will hear you and come crawling from the vents to get you.
Rooms can be searched for ammo, medical supplies and weapon mods. The more you search the more gear you get to take to the next mission.
Each character will have unique perks and get to choose from five base weapons that can be modified and upgraded as the game progresses, just don’t take to long the ship is not in the best state. With every player turn that passes it increases a turn tracker the triggers events in the ship from fires, hull breaches and boss events. If you hit the last event card it’s game over as the ship blows up.
Currently I have a very basic 1st prototype that I’m play testing and trying to work out the kinks in the core mechanics.
Be great for any thoughts feed back or ideas, happy to answer questions and go into more detail.
.
It’s pronounced “Noel.”
After all his first name is No-vac
What, then, is Chinese rap?
Edit:
Notable mentions from the comments:
-
Spanish/Swedish/Swiss/Serbian hits
-
French/Finnish art
-
Country/Canadian rap
-
Chinese/Country/Canadian rock
-
Turkish/Tunisian/Taiwanese rap
There hasn't been a single post this year!
(Happy 2022 from New Zealand)
Nothing, it just waved
Him: I can explain everything!
(It's his best joke yet I think)
