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OSTEOGENESIS IMPERFECTA (OI), Causes, Signs and Symptoms, Diagnosis and Treatment.
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- Опубліковано 15 сер 2024
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Chapters
0:00 Introduction
1:16 Causes of Osteogenesis imperfecta
2:10 Types of Osteogenesis imperfecta
6:01 Diagnosis of Osteogenesis imperfecta
6:20 Treatment of Osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.It results in bones that break easily.The severity may be mild to severe.Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth.Complications may include cervical artery dissection and aortic dissection.
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen.This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes.These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation.There are at least eight main types, with type I being the least severe and type II the most severe. Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing.
There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs and surgery.A type of surgery that puts metal rods through long bones may be done to strengthen them.Tentative evidence supports the use of medications of the bisphosphonate type.
OI affects about one in 15,000 people. Outcomes depend on the type of disease. Most people, however, have good outcomes.The condition has been described since ancient history. The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.
I will be giving birth to my child that has been diagnosed with OI praying for strength & guidance 🤞🏾🧡 sending love & strength to you all that’s suffering
How's it going?
Hi I am type 1 or 4 I haven’t had the proper genetics done but I am 35 and I have done everything most kids do growing up. I thing I will warn you about if they have a mild form we are daredevils. I currently went through IVF so I didn’t past it on but don’t be discouraged it gave me courage and strength making me the the man I am today
In case you see this, just wanted too say I hope your baby is doing great and best wishes to your family
thank you so much we’re now two years in & she has the biggest personality with a slash of sassy 😂😂😫 love her so much 🧡hope all is well
ALL will be well. My heart reaches out to you beautiful people
Oi rapper here with type 3&4. I should be 3'4 but im 5'8
I've broken over a hundred bones,🤷🏻♂️ I lost count, and I'm still walking My message is to anyone like myself. Is to stay strong. & follow your dreams. 💯
hi bro i am with more than countable fractures
i have a huge respect for you! I have type 1 but i‘m still able to swim active and be sportive which helps me alot mentally and physical. Stay strong!
@@fynnszn96 I have respect for you as well. Just subbed 🙏🏽
@@fynnszn96 I wish I was good at fortnite lol
I am a type 2 that made it GOD is so good to me
I am currently 30 now
babyblue2k3 continue to tell your story you are a miracle that Jesus has made :)
Do you have a family now??? I have a child with OI but sad to say she passed away after 30 mins of giving birth.
Fantastic! #BreakingBarriersNotBone :-)
@@jennelynarciete7478 sadly I don't .. I'm sorry to hear about your baby I hope you are doing alright
Im type 2 to
Good video that I am going to share, but there is some inconsistency/inaccuracy at 2:12 where the types are summarized. The types are not ranked by severity of symptoms, and, as is stated later, type 2 is actually the most severe.
Great point!
Yes
Type 2 is more severe
Ohh! thanks to God that I survive for 17 years I got Blue in my right eye and have several bone break but suffering in my lungs and heart also for 17 years every year I always end and woke up in hospital.
Same
am i the only one here that doesn't have this but is just interested in learning and getting educated about this disease?
nope
yes lol
Yes you are I have it but it's still nice to see people watching this
Chose it for my research project on bone pathologies, lol
@@ctracy100 nice research but we need a cure for this thing not just to talk about for nothing
Im 19 and also have oi type 1. Broken over 25+ bones. I had some slight bine deformities starting from puberty (scoliosis and jaw underbite)
Looking at other young people with OI type 1 in the comments its strange to me that they have so little fractures throughout their lives. Maybe im not type 1?
I dont mind breaking bones that much its rather the invisibility of the condition. I look healthy and no one really understands or believes when i complain about pain and exhaustion. The only people i can relate to is my family. I have 5 family members with OI too.
Don’t worry, I have type 1 as well and I’m 19 at the moment. I was 13/14 when I broke my last bone and in total I have broken 13 bones in my life, mainly my legs, I was never allowed to do anything fun and always had to be careful, that’s why it’s only 13 and not more. I have also scoliosis and was born with a broken collar bone. Overall, it was an excruciating pain every single time it happened but I’m so lucky I haven’t broken any bones since, my bones got stronger so now I just struggle with chronic pains really. Hope you’re okay :)
I also have jaw underbite, it's quite bad, class 3 malocclusion. But I have a very positive attitude. I'm type 1 and have broken 4 bones.
I have osteogenesis and perfected type one and you can break up to 100 bones or just 1. It's really matters of how active you are.
All the types can have mild to severe hearing loss and spinal cord problems, not just the most severe form of OI. Also OI can only occur at birth, not after or later in life.
They find it before birth. I was born with 6 broken bones, the doctor told my mom to abort me or else I wouldn't live passed two. When i did he said I wouldn't live passed 8. Im 25 now with 2 kids of my own. There is hope.
@Malvin Easther my son 4yrs old 6time bone broken mainly legs pls help me .he report mild stage my WhatsApp number 8124767322
I have type 1 and am currently 13 my life is pretty normal I have only broken 3 bones so far. Hopefully I won’t break again. It’s really the worst pain, especially when the have to reset a bone I take an infusion every 6months to hopefully minimize the brakes 🙏
Keep #breakingbarriersnotbone ! Be sure to check out the #OILife channel!
i’m 14 with type 1, broken 4 bones in my life, ive had canula infusions for many years but now i just take supplements
I also have type 1, was born with 6 broken bones including neck. I've broken 7 bones and have had several hours of surgery. I'm in my 20s now and my bones are getting alot stronger.
Be careful and stay safe, I know its sometimes not fair to be able to do things your friends or family can't. But just be patient the bones will granger stronger over time.
I have type 1 as well and I’m 19 at the moment. I was 13/14 when I broke my last bone and in total I have broken 13 bones in my life, mainly my legs. It’s an excruciating pain but I’m so lucky I haven’t broken any bones since :)
My sister was born with Type 4, she had almost 100 fractures in the body when she was born.
She got pneumonia, and died 10 days before her 1th birthday.
I think it is a miracle that she lived almost 1 year, the doctors said to my mom that she could be dead when she was born.
But my mom refused to give up.
I cant wait to meet her when I go to heaven some day.
I'm deeply sorry for your loss and admire your mom's resilience. Your sister's courageous journey is a testament to love and hope in the face of adversity.
Great informative video for none professionals, thank you
Its was very helpful thankyou sir ❤
welcome !
why it has almost no wievs ? its great video
Thank you for the appreciation....
the views are low because the video is recently posted.
Jesus loves you all ❤️ John 3:16 For God so loved the world that he sent his one and only son that whoever shall believe in him shall not perish but have eternal life”
Jesus loves you and he stands at the door of your life and knocks. Will you invite him in ? He loves you so much! the first step is simply talking to him and believing in him
17k views now :)
THANK YOU A LOT! I LOVE COLORS IN THE VIDEO!
Best video and great explanation. Thank you for this
Hi everyone I am DEEPIKA.I am Eighth std.I am affected by OSTEOGENESIS IMPERFECTA.I am from India,Tamil nadu,near Hosur.I am taking treatment in pondicherry.
Whr u r taking treatment
My brother is also going from same
Purushottam Khot the treatment helps the bone become stronger
I wish you all the best, from the USA. May luck be with you, and blessings unto your health
Where are you taking treatment. Help to get the details for my niece treatment
thank you. great overview.
My niece having this disease since birth just die this week and she's 21 y/o. Through out her life suffering exist. She graduated as magna cumlaude in accountancy and about to take board exam this coming May then suddenly shortness of breath struck so she admitted into hospital then in about second day she died😭
Very helpful , thank you
You swapped the Kyphosis and Scoliosis definitions about as the outward curvature of spine is Kyphosis while the lateral curvature of spine is Scoliosis.
Interesting video. Thanks for the info! #OILife
I am type 1 OI and had about 10 or more fractures since birth 5 of which were major fracture the rest were what you call hairline fractures I've been on Bisphosphonate till I was 12 and I have metal rods in my femurs which the doctors said would be taken out when I'm a teenager but now since I'm not really growing anymore they are leaving it in. I'm now 16 years old and also very very short🙈
Thanks for sharing your story! Be sure to check out the #OILife channel and subscribe. Lots of great O.I. related content!
how went the bisphophonates for you? I‘m going to have my first therapy in 2 days. I had 3 full fractures in the last 2 years. Combined with hair fractures around 13-15 in lifetime. But i‘m glad to be normal sized. Actually i‘m with 16 completely grown out with 5cm taller than my Dad so completely normal
I love to see next part OI in alignment style indication video
Well i have friend that was born withe disease but only in his legs they are like natural legs in shape but they break so easily and he couldn't walk before the braces and his sclera is blue if anyone knows Vikings then he will know that his condition is just like ivar the boneless in the show. What type is he?
Ps sorry for my English i am spanish
Tengo o i, y tengo un dolor de espalda y de costillas que no lloro por no preocupar a mis familiares me siento mal.
I have a question, I have type 1 but when I walk, I get exhausted so easily does anyone know why? I even do my trainings, and does anyone know if osteogenesis imperfecta can cause lower back Bain? Thank you
I have lots of videos talking about O.I. and how to exercise with O.I. :-)
Lezan lol I get the same issues although we work out very hard it may still hurt I have no idea why
@@brimzeex4993 its a bit weird.. my doctors keep telling me to do my trainings n stuff, but i still get exhausted..
@Malvin Easther Hey, I would love that, what country are you from?
@Malvin Easther Also can you tell his email or something here?
Make more videos like ❤ this.
mashaAllah,,,,, keep make such good content
I have type 1 😭😭 four femur fracture 3 Times in right leg 1 time in left leg
my posture is normal and i also look normal but i am suffering from these fractures since 2014 that time i was 14 years old now i am 19 years old and my life really sucks every fracture happened with a simple fall lets say since 2014 i have fall only 4 times and i got 4 femur fractures life ain't fair :(
Hey, are u still there? We could talk, a simillar thing happend to me too,, there's still hope.
You will outgrow some of these fracture rates. I started breaking less as I got into my 20's. Be sure to come check out the #OILife Channel. :-)
@@tf.y Yes! Always have hope! :-)
I've broken my both my femurs, my tibia and fibula, both hips, tail bone, finger, funny bone, knee, achillis tendon, and i was born with broken neck and collar bone. Im in my 20s now and im having surgery to correct past surgery because my bones didn't heal correctly, im currently recovering from , hip, and femur surgery. You can do it, the strongest soldiers are giving the hardest lifes. Be careful and stay safe.
19 yo and broken over 25+ bones. It’ll get bette. We cant start overthinking why we have this. Life isnt fair. But know that there is a community out there to always help you and listen.
I have that!!!!!!
Stay strong 💪 ✨️
Most cases mild,, spinalcord, heart failure, permanent deformity,, fragile bones,, colia1, colia2 genes inherits or spontaneous mutation,, type 1 most severe,, most common,, mild amount of collage produced,,, hearing impairment,,, abnormal curvature of spine,,
Type 1 here. I can't play normally football (and in general to practice sports) cause of this problem... It's hard to accept. 🥺
One question for type 1 guys: are you skinny? I'm rather skinny and I don't know if cause of osteogenesis imperfecta.
i feel you! Same hear i used to play some football in freetime but quitted bc it was to risky. I started swimming with 7 years and it became my passion. Now i‘m doing it for 9 years and will never stop bc it’s the best thing mentally and physical. Yeah i‘m a skinny type too but built muscles with swimming
@@fynnszn96 Thanks for your reply, man. Swimming is an amazing activity, good to build muscles. I should actually do it too. :)
Watching this video with blue eyes and a broken hand
How's that hand?
@@weathermane just broke my humerus
Tomorrow the doc will decide if I get surgery or not
Sheesh, how'd ypu break it?
@@weathermane i slipped and I went full speed into a door
How about you?
@royal-si-ceva7731 im currently not broken besides my left femur hasn't healed all the way yet. 🙃
Every morning I break my arms and every night I break my legs
Claire W Jesus loves you ❤️ John 3:16 For God so loved the world that he sent his one and only son that whoever shall believe in him shall not perish but have eternal life”
Jesus loves you and he stands at the door of your life and knocks. Will you invite him in ? He loves you so much! the first step is simply talking to him and believing in him
.
L. Bay she’s quoting spongebob you twit
😔 I'm sorry Claire
i have OI im 11 so cool!!!! :DDD
Ivar the boneless
This woman has a male voice why
Because God said let this women's voice sound like a man's 😅