A Drepanocyte Caused Vasoocclusion. This Is What Happened To The Renal Medulla.
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- เผยแพร่เมื่อ 17 พ.ค. 2024
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Thank you Dr Nizar Tannir, Dr Pavlos Msaouel, Cora and Herman Connor, and Dr Loren Stagg
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Some images courtesy Getty Images
Renal Medullary Carcinoma is a sickle cell related kidney malignancy that is usually diagnosed in young patients (median age at diagnosis 28 years old). It is considered a rare malignancy but likely afflicts more people than prior literature suggests given that review of that literature shows patients more in line with Renal Medullary Carcinoma rather than Collecting Duct Carcinoma. 3 year overall survival of RMC is 3%. Upfront chemotherapy then surgery is the suggested treatment. Response rate to platinum based chemotherapies, gemcitabine, doxorubicin is 29%.
References:
Renal medullary carcinoma. The seventh sickle cell nephropathy. Am J Surg Pathol. 1995 Jan;19(1):1-11. pubmed.ncbi.nlm.nih.gov/7528470/
A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. Clin Cancer Res. 2018 May 1;24(9):2044-2049. pubmed.ncbi.nlm.nih.gov/29440...
Updated Recommendations on the Diagnosis, Management, and Clinical Trial Eligibility Criteria for Patients With Renal Medullary Carcinoma. Clin Genitourin Cancer. 2019 Feb;17(1):1-6. pubmed.ncbi.nlm.nih.gov/30287...
Five decades of urologic pathology: the accelerating expansion of knowledge in renal cell neoplasia. Hum Pathol. 2020 Jan;95:24-45. pubmed.ncbi.nlm.nih.gov/31655...
GG Malouf, NM Tannir, P Rao, P Msaouel. Renal Medullary Carcinoma in Rare Kidney Tumors.
Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma. Cancer Cell. 2020 May 11;37(5):720-734.e13. pubmed.ncbi.nlm.nih.gov/32359...
The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. pubmed.ncbi.nlm.nih.gov/10591...
High-intensity exercise is a risk factor for renal medullary carcinoma in individuals with sickle cell trait. Preprint.
Atypical carcinoma of kidney originating from collecting duct epithelium. Urology. 1982 Jan;19(1):89-92. pubmed.ncbi.nlm.nih.gov/7058597/
Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae. Genetics. 1984 Dec;108(4):845-58. pubmed.ncbi.nlm.nih.gov/6392017/
Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. EMBO J. 1996 Oct 1; 15(19): 5370-5382. www.ncbi.nlm.nih.gov/pmc/arti... - วิทยาศาสตร์และเทคโนโลยี
The Wikipedia list of disorders for chromosome 22 has been amended by someone to include RMC.
Its always nice to see more people talking about Sickle Cell Anemia and that the trait is no joke. I have Sickle Cell Anemia and it's a hell of a ride.
I feel for you, you majestic creature. Quack on.
Damn, u just had to make it all bout urself
@@jnerdsblog a majestic quack to you as well!
@@EyYoMrWhite Sickle cell, trait or the disease, brings a community of people together. When there's something in the news or a report about someone suffering from anything related to SC, everyone in that community can feel or relate to that. Not making it about myself. I just always wanted more people to become aware of the subject Sickle Cell and be more educated on it. People think we over exaggerate when we say just a fever can send someone with SC to the hospital.
So many times I have gone to the hospital for a cold that was causing a fever, and nurses look at me strange like "why did you show up to the ER because of a fever. Take some cold medicine and go home." But SC patients can die just from the common cold. The flu had me in the hospital for almost 2 weeks due to complications with Sickle cell.
People need to learn that not all "disabilities" are visible and be more careful when they are sick around Sickle cell people. Sickle Cell doesn't have to limit us from everything, we just have to be more careful. You can react to a cold or an insane work out better than someone with SC or the trait. Plain and simple
My blessings to you and your family.
Africans: sickle cell
Asians: thalessemia
💪🏼resistant to malaria💪🏼
Yeah, that is really worth it.
Evolution.
its weird cuz my whole family tree is white as hell but I've still got thalessemia
@@TadesanYeah, it really makes one wonder if there is some real correlation. The benefits of malaria resistance must be immense when even those downsides can't pressure it away.
And now that malaria is being worked on, means that the evolutionary benefit goes away and sicke cell should co away as well. On the other hand exactly the same medical advancements also cause sicle cell patients to survive things they otherwise wouldn't. We basically took a lot of evolutionary pressure away from our species.
natural selection at work! yes!@@Tadesan
I have sickle cell trait and I had no idea until this year that it might be the cause of my unexplained health issues. Thanks for spreading awareness. Oh and I’m Caucasian (blonde and blue eyes) much to the surprise of my doctors.
I'm glad to hear about Dr. Msaouel and Dr. Tannir's research bringing RMC to light for both patients and other doctors. It's this kind of story that motivates me when I'm in my lab.
This is really fascinating to me from a different angle. When I was in boot camp in the US Navy, recruits with sickle cell or G6PD had a red tag on their dog tags, and were paid extra attention while working out (both punishment workouts and regularly scheduled ones). Watching these videos, I think I have a better sense as to why (though I still don't really understand G6PD).
Thank you for shining a light on one of the little mysteries in my life.
That's interesting! Were there other things highlighted on tags like that, or were they they only one (or only one you noticed)?
@@debayeuxchats5607 No, it was strictly Sickle Cell and G6PD that had them. I remember one of our division's leadership--the guy who called cadences when we were marching--had the tag.
If you know about Navy Seals then you must know about David Goggins. I’m starting to think he is super human since this guy goes to the extreme in everything he does and with sickle cell trait. I remember reading that he had hematuria, stress fractures, bloody blisters in his feet and so on after running an ultra-marathon risking kidney failure yet he is alive and well today. David Goggins is truly a madman lol.
@@darkerSolstice in a nutshell, G6PD is an enzyme that works in a specific energy-producing reaction pathway for red blood cells. This pathway also happens to create antioxidants to protect red blood cells from damage caused by reactive oxygen species made during times of muscle exertion. A G6PD deficiency means limited antioxidant production, leading to acute red blood cell breakdown (hemolysis) during workouts and consequently anemia. So yea, anybody diagnosed with G6PD deficiency is just as screwed during an unmonitored workout as anyone with Sickle Cell trait/disease.
This poor kid can’t catch a break! First rhabdo, then stage 4 kidney cancer?! Jeeeeez
A very aggressive kidney cancer at that.
wow, 3 month death? very aggressive and not good.
HC's story hits close to home.
My mother had no insurance and had blood in her urine. Not every time she went, so each time she went to the free clinic they just brushed her off with it being either a kidney stone or a UTI.
Turns out it was stage 4 bladder cancer, and I lost her to it in only two years.
Don't smoke, the cancer she died from is only seen in smokers (or so I was told).
Granted, once Doctors find out you smoke(d), they'll point more fingers at it than you can count. Even if hit your thumb with a hammer. It's almost a reflex these days.
That said, I'm sorry for your loss. Losing a loved one is always hard, but due to a lack of insurance... words fail me.
Right kidney more suseptible to hypoxia
Glad to see it stated outside of the “sports” world. Coaches who have never done the workout themselves will often times decimate instead of stimulate. Max Recoverable Volume is a real thing and most people don’t understand what chronic non-recovery does to performance and even just attitude towards the sport.
Yep, it would stop if more coaches are sued when kids end up dropping dead. Some of this "training" is bordering on child abuse.
I'm pretty sure KC did his hundreds of workout reps all on his own accord (or at least was described as such) in order to "catch up on his pre-season conditioning" after taking a break due to depression. His case had absolutely nothing to do with a coach. Sure, it's helpful to educate coaches about MRV but it's just as, if not more, important for athletes to learn it too.
This just popped up on me feed. I call this God's work. I have sickell cell trait and have had odd blood work for the last four years but nothing. Doctors can't provide me any information. I will definitely mention this to my doctor.
Both the ChubbyEmu channels have taught me more about health sciences than my literal biology class has lol
Happy Birthday 🎉
R u in highschool ? Lol
It's really sad to see that cancers that affect black communities primarily had gotten so little attention in research and practice.
This set is simply brilliant, Dr Bernard. Very few times have I ever been at a loss of words sufficient for the situation, but, here we are!
Thx so much, Dr Bernard; hero!💖
I love both of these channels! Please continue to make these because even though I am not in the medical community I love to learn about the complex mechanisms that occur and can go wrong in the human body.
7:40 it's so sad that we have to censor words like cocaine and things like that, and having to fear demonetization for failing to do so just because of the broken state of the platform.
Fantastic video as always, very informative and interesting, even for people who aren't studying medicine. Thank you!
This is a very typical example of institutionalised racism in healthcare. This form of cancer usually only affects African individuals and because of this, it is under-researched and dismissed so easily. There are probably many more cases of this but since they're most likely only found in poorer nations we are unable to document them. It's a bit of a push but this is the same for how difficult it is for dark-skinned people to receive proper information on dermatological disorders since most studies and graphics are done with pale-skinned examples.
Thanks for bringing to the forefront disorders that doctors are unfamiliar with. We need to take another look at how we educate our medical professionals. There are too many patients having to teach their doctors about disorders that are "invisible" not rare as doctors believe. My two children and I all have hEDS. I have had to research and teach our doctors about it. It isn't rare. But doctors think it is. There is no doctor, no specialty who will take responsibility for this illness in the US. My very young family medicine doctor admitted that EDS was only a footnote in her education. But at least she's willing to learn. My Rheumatologist wants nothing to do with it. The geneticist we were referred to kindly declined to see us bc we don't have the life threatening kinds of EDS. And I know this is just my little corner of this Hell. I can only take comfort that at least what we are dealing with WON'T kill us. At least not directly. But as you've shown, there are plenty of these types of disorders that can. Thank goodness for people like you and the doctor that helped H. C.
The choice of a zebra as a symbol for hEDS has always struck me as appropriate, given how many times I hear stories like this.
Also it seems to be an universal thing that doctors are not taking their patients always seriously.
I'm from Nordics, but my dad was forced to life 6 months with broken wrist.
He had a motorcycle accident and doctors patched him up. After months of recovery, the doctors said how my dad is now all fine.
My dad however said how his wrist is still slmost unusable due pain. Doctors said "Nonsense" and sent my dad to psychologist due "Imagining pain after trauma"
After 6 months of suffering my father went to see a private doctor, who found out my fathers wrist was close to a bone powder.
@@jarskil8862 I'm so sorry to hear this. Yes, it seems no matter what country, we are all forced to be vigilant medical advocates for ourselves and loved ones. I really feel that doctors need a more in depth education. This includes the art of dealing with humans. We are not all alike. We come from varied backgrounds and experiences; and increasingly global ones as well. This makes for the need to be flexible in the ability to think outside the box, not just scientifically, but interpersonally as well.
@@jarskil8862 I've seen the biggest problem happens when the doctor can't figure it out in the amount of time they have set aside for the patient. They just say "it's nothing", with no real explanation. They don't wanna admit they don't know what the problem is, and they don't have time to continue investigating to figure it out, so they just send you away with nothing but a huge bill.
Giving doctors time to actually deal with each patient, and hiring enough to cover all the patients cuts into profits though, which is obviously unacceptable. So we suffer.
the fact that cancer is seen as an "old person disease" may be what leads to it being seen like that in the first place. People don't bother getting checked for cancers until they get older, and that's when they find it, so that's how it's known. Realistically it may have been growing for years earlier
These heme review videos remind me that Dr. Bernard is not just a meme lord, but also way, way smarter than me.
-emia meaning presence in blood
Heme Lord
surprised at the highly technical verbiage i was thinking to myself 'damn this guy must be a doctor or something' really shows how much he dumbs down the chubbyemu videos.
Chubby emu subscriber for years and why didn’t I know about this channel? Maybe Dr. Bernard needs to mention it a little more...😀
I just found it too lol
Me too!
It's really nice to see more videos from Heme Review. As someone who is studying medical sciences, its so fascinating to hear about this research and to really contextualise everything. Amazing job Dr Bernard, hope to see more indepth discussions from this channel!
Thank you for bringing to light these diseases and things that are not commonly discussed/believed/treated.
My family and I have a few rare inherited conditions (classical ehlers-danlos syndrome, a kind of ocular, partially-expressed albinism and a few diff platelet/blood disorders as well as a congenital condition involving brain tumors that has killed 2 generations already but no-one knows what it even is) and there is nothing more disheartening than being told by medical professionals "you don't know what you have, I know better". I wasn't believed about having cEDS until we all got genetic tests done showing my dad, brother and I have it, and in the mean time I'm dealing with extensive ligament & muscle damage to my hands, neck, wrists and spine which mean I'll never play my flute again (I was a professional orchestral musician). Seeing people overcome odds, especially finding some kind of help where they were initially fobbed off (and where racism was a possible factor) is heartening that maybe there are still some good folks out there.
Oh my. You just helped me put my "rare" mild-ish Porphyria Variegata into perspective.
I've been feeling down because it is acting up a bit and it is hard to find any _useful_ advice. Often I feel like I am just being lazy and imagining it - and then boom! I get a few days without symptoms and I remember how it should be.
But at least doctors tend to believe me, even though they can't really do much more than listen. And my inherited wonky gene seems to be of the sort that I should be able to keep it quiet by throwing glucose at it and monitoring my liver.
For some light relief you might like the very nice youtuber, Jessica Kellgren-Fozard of vintage glamour and lesbian fabulousness who seem to have a mix as weird as yours (but very different!) - loads of hard to dx stuff plus EDS that was diagnosed quite late. Mixed in with the glamour/vintage youtube stuff she has some nice vids on how she deals with her body not working.
Always remember that it isn't important that you do what others do, but that you do what you are able to. If your body simply doesn't allow you to do something, you aren't any less for it. The fact that you do what you can is demonstration enough.
Cancer is usually associated with older people? Damn! Why didn't my body get the memo?!
sorry to hear 😞, hope you're getting the care you need. still *mostly* do, although we're seeing things like colorectal cancer happening in more people under 50 now
@@HemeReview I appreciate your reply and your concern. I am really happy with the care I am getting (I'm in the UK) - i really have nothing to complain about. I hope you're doing well yourself. Really love the videos.
@@HemeReview shoot, i'm 19 and I'm going to schedule a checkup for colorectal cancer
I'd just like to point out that a lot of people seem to think that because Sickle Cell is found in people from African decent that must mean everyone with it must be either black or have black parents etc., but that's not true at all, my brother has it and one of my ex girlfriend's has a sister with it, all are white and as far as I'm aware have had no African ancestors within at least 3-4 generations, although I couldn't say anything about before that. 🙃
I am white and I have sickle cell trait.
@@trey1531 🤗
A good genetic test such as the one 23 & me provides can help you be informed of what genes you have that you could pass on to your children or can cause help issues with yourself.
Sickle cell anemia affects about 72,000 people in the United States. Most Americans who have sickle cell anemia are of African descent. The disease also affects Americans from the Caribbean, Central America, and parts of South America, Turkey, Greece, Italy, the Middle East and East India.
@@SkunkApe407 so the whole world
Phenomenal content. As a pathology resident, I found this very educational. Continue the good work Dr. Chubbyemu!!
I came right over here after almost crying my eyes out over HC. So glad he survived, but who knows how many other people have died from this and misdiagnosis. THIS is something people on Twitter and in Washington should be discussing; in my opinion.
I bet someone has fixed the Wikipedia article now that this video has gone up! :)
The palindrome thing is so interesting!
This case may be a great example of medical racism. This is a topic that should be discussed more
Medical racism and ignorance towards Sickle Cell.
Is it medical racism tho, if doctors are only counting on probabilities?
I did not get MRI scan instantly after a stroke, because doctors said "Its simply impossible for such young guy to have a stroke"
The symptoms faded but only on next day they took an MRI, and look at that, despite doctors claims, they found a blood vessel, that is naturally unnaturally thin, which might have had circulation problem.
Now Iuckily I have MRI scan every 4th year when they check condition of that vein.
@@jarskil8862 they literally questioned his birth country and tavel plans and ignored clear cancer diagnosis from other doctors
I worked with a young woman who had sickle cell disease. I learned a little about its effects, and now I understand somewhat of what she went through.
I’d love to see more of these in depth videos about different types of cancer.
Many members of my family have the Thalassaemia (presence in blood of the sea?) trait which is similar to Sickle Cell but from the Mediterranean and Asian continent, and doctors know so little about it. I really wonder if it’s responsible for certain health issues I have but no one knows anything!
Its crazy how many people in the medical field either don't really know a lot about Sickle cell or undermine those with it or the trait. Happens to me too damn often. Hematologists are your best options when it comes to SC
Close - it'd be "presence of sea in the blood" :)
Praise the lawd heme review upload. Thank you mr emu ♥️
He is the Emia Emu.
I feel like your video will save someone's life someday
This thumbnail keeps me up at night
It's content like this that makes me love science and medicine even more. It's just so interesting!
Fascinating! I LOVE the combination of this really specific video with the personalized, story driven video you posted of HC!
My hungry ass thought it was garlic bread in the thumbnail
I don't understand half the things going on in these videos, but I still find them fascinating.
Those med students joking about needing to know about this disease were gross. I imagine one day they'll be the kind of doctors that misdiagnose patients like the idiot in the chubbyemu video that said HC had HIV.
*A truly excellent lay-level discussion; thanks!* Should be required viewing in ALL Middle & High Schools, for students _AND_ coaches!
Great new title and thumbnail
Kind of excited to see one of the video clips shows a book I have. I'm not a med student.
Keep it up with the great informative Heme videos!
This was amazing. Thank you
Thank you for your work
what a fantastic video to bring light to this phenomenon.
Does anyone know whether hypoxia induced RBC sickling in sc-trait patients is reversible, like how the heme group reversibly changes conformation in response to oxygen binding/unbindling in healthy RBCs?
If reversible, a targeted drug shifting the equilibrium towards the normal conformation could be a statin-like statistical treatment to lower the risk of RMC for sc-trait athletes
Another great video, thanks a lot. 👍
I’ve heard about RMC before, but I’ve never seen a case of it like this…
Dr. Bernard thanks for the videos I always learn something new that I can apply to my medic training...
I'm pretty impressed by Dr. Msaouel's ability to grow and trim up a beard in just a matter of a few minutes.
But seriously, great video as always on both channels, Dr. Bernard. This is absolutely fascinating stuff.
I love the way you share information, I find it very easy to digest and its at a pace that holds my attention. Thankyou Mr Emu :)
8:37 don't think I didn't notice Stephen Wolfram's A New Kind of Science in Dr Msaouel's bookshelf!
Always love these, one of my favorite series ❤️
My veteran husband died of metastatic lung cancer last September and i wonder why the VA never caught it even though he had regular chest xrays. I'm still so mad at the VA doctors
After watching your other video, this is a problem of racism, classism, and an unregulated for-profit medical industry.
Anger. Just so much anger.
I could not thank you enough for your videos. Not only content wise, but also for enlightening people about a neglected disease (for obvious reasons, race and class). Thank you so much.
Dang I wish these videos could count as CEUs
What are CEUs? Chubby Emu Uploads?
@@ravenestrella2310 Continuing EdUcation. Lots of professions have to keep up with current research to stay licensed.
@@jedimaster91 Oh, right! Thank you! Yeah, I’m aware...I almost went into a profession where I would have had such requirements, myself! Haha! It’s a job that would have been made so much easier if these had counted for continuing education! Wish they counted for your job, as well!
I've never known about RMC before watching video about the guy with intense exercise...
And it ends up with really underattentioned yet super-agressive cancer
Discussion about SC disease/trait is really Important! This channel is golden!
Dr. Tannir is an Angel on Earth.
This is so informative. I hope one day, you dive into Alport Syndrome as well.
Man meme review bringing up all these older videos is great
"we thought of cancer as a disease associated with age"
All my friends who died of cancer were under 40... IS 40 OLD???
I can't say that I understand everything discussed here, but I'm trying 😭
Have you reviewed an impossible burger yet? They use a lot of heme.
my man do not just for his channel but others as well.
11:46 spitting straight bars
Danke!
thank you!
Small correction - DNA palindrome would be something like GATA TATC - where it reads the same on the opposite strand. GATAATAG is not a palindrome.
forgot to say that your videos are the best
Thanks!
Thank you!!
What a tragic disease. 😢 Wow.
love these oncology videos!
Would be interesting to see a video on Kawasaki disease, on either channel.
forbidden garlic bread thumbnail
Considering the impact of sickled cells, it's amazing the African continent has one of the lowest incidences of cancer overall. For instance 5x as many European women get breast cancer vs women in Africa. Sadly survival rates are lower in developmental countries though
it could also be a case of the cases in africa not being documented
i understand some of these words 👍
I guess this might also be a reason for people more pre-disposed to having sickle-cell to be having worse outcomes in Covid. I think Covid also reduced oxygen. Not sure.
I'm confused. RBC's don't replicate right? Are the cancers arising from the sickled erythrocytes? If so that would mean that they gained function to undergo mitosis right? Or do the sickled erythrocytes affect actuall kidney cells??
I had to sign paper work/ waiver when I played college lacrosse. I have sickle cells trait as well. How do we know what’s too excessive for exercise? This shouldn’t be perpetuated as an AA disease though. I am a half white half Hispanic female.
I want to know if it’s possible that when I was young and played sports that if I would play too long I would lose my eye sight ( become gray) and have to walk off the field because I could no longer see. I always believed it was because of a lack of oxygen. Maybe it also has to do with sickle cell.
I wonder if there is any connection between sickle cell trait/disease and low oxygen from corona? Like are people with that more likely to die when their o2 levels drop below a certain point? Do their blood cells in the lungs "sickle"?
Around the 13-14min mark is why I absolutely loathe when people say "horses not zebras". It kills thinking altogether and people just assume the most common thing is likely the presenting problem. Of course common things occurs commonly, but when you see stripes, its a zebra not an off-colored horse; when you see a pink feather, its a flamingo not a weirdly colored crow.
Why did the algorithm recommend me THIS?
You already made a small but significant difference, someone added RMC to Chromosome 22 on Wikipedia!
hey it'd be fascinating if you could do a video on brain-oriented pharmacology
Why does the kidney in the thumbnail look like garlic bread?
Why do the cancer cells telomeres not get shorter and shorter like in regular cells?
Can't find Herman Conner's video; can anyone link it please?
My shirt is always drenched in sweat, and I always max out. No matter what I am working on. But I am a great big fat guy so my shirt is drenched in sweat if I go up the stairs too many times.
nice to know.
I’m a little unclear what the primary mechanism of damage is here, maybe because I was getting ready while listening to this video. Is it worsening hypoxia from sickling or is it micro vascular damage from sickled cells?
worsening hypoxia from sickling that activates low fidelity DNA repair mechanisms. all in an environment where DNA double strand breaks are common due to the hypertonicity
Hey! Heme Review! Please read this: please use a different thumbnail for the Heme Review because it shows up in recommendations and spoils the mystery in the original Chubbyemu vid!
Most people, I’d look at askance for displaying that Wolfram book. But for people who play with DNA for a living it might present a useful model.
You look ten years younger all of a sudden , 🧐🤔... You look good, a little thinner tho . Hope all okay Doctor. 💞✨
Differential Diagnosis by House from House MD
I had a stemcell transplant to cure sicklecell anemia in 2020.
1:05 Come on Doc, those are some bullshit quarter-rep squats and you know it
Hey ik you're not a doctor but is pain behind the patella while squatting a form thing or is something wrong with me lol
My mom's friend s sister passed away from rmc
chubyemu there is RMC under dieases regarding chromosome 22
Why does the thumbnail looked like molded bread to me?