#autosomal disorders

[er-cryptid]

Autosomal Recessive Disorders

Tay-Sachs -- fatal -- storage disease -- lipids build up in brain -- mental retardation -- increased incidence in eastern European Jewish people

Cystic Fibrosis -- increased mucus build-up in lungs -- untreated children die young -- 1 in 25 Caucasians are carriers

Sickle Cell Anemia -- hemoglobin is less able to carry O2 -- sickles when O2 content of blood is low -- 1 in 10 African Americans are carriers

Phenylketonuria -- inability to digest phenylalanine -- causes mental retardation if not avoided in diet

[charleslovemustdie]

need to be obsessed with something again but i’m busy with this fuckass Degree

[rainystorm404]

rahhhhhhhh usher syndnrome . essyay.

[aeithalian]

Rick. Buddy. Amigo. Explain something to me. Real quick, I promise.

[The Trials of Apollo: The Tower of Nero, Chapter 4]

Good genetic package, Rick/Apollo? Are you sure about that?

Listen.

Estelle's physical description *clap* makes *clap* no *clap* sense. Why on earth does one of the only fully human characters in this series have to have unique and weird physical traits? Also, it makes no sense in the larger scope of Rick's writing style to have chosen this unless he had some sort of larger intention behind it. Not to mention the theories by fans haven't really done much to fully flesh out any perceivable reason as to why this might be:

Poseidon blessed Sally when she was pregnant - By far, this is the most believable to me, but it's still eh, because this feels very weird and I don't get the vibes from Poseidon that he would have done so to the extent that it shows up in Estelle's physical traits. Also if that were true, it doesn't make sense for Rick to just fully drop it in the story without the intention to flesh it out further, because to my knowledge he doesn't have plans for another novel that takes place after ToA.

Paul isn't Estelle's father - Firstly, this is out of character for Sally, and this doesn't fully justify why Estelle has Percy's eyes. PLUS, salt-and-pepper hair still wouldn't be natural for a newborn

Paul is Poseidon in disguise - This explains her traits the best, but Paul's character is so much more satisfying if this isn't true. It's also total bullshit.

Enter me. I have a theory. Yay. But first, we must discuss.

Firstly, I want to talk about her eyes. Going back to the theories, and based on my fair amount of knowledge of genetics (clarification: I write this as I procrastinate studying for my final genetics exam), the eyes are mostly interesting because Apollo specifies that they are immediately similar Percy's. The thing about eye genetics, though, is that they are what we consider to be 'complex traits', meaning that they are influenced by the interactions of multiple genes from both parents. What I mean to point out here is that Sally could definitely have the genes to produce two children with 'sea-green' eyes, considering her canonical eye color is blue. We don't know what Paul's eye color is, which makes my job a whole lot easier because I can assume that it doesn't directly contradict the possibility that Sally just has really strong eye genes (?). ALSO, who's to say that Poseidon didn't just change his eye color to match Percy's when he was born? Ah, yes, the perks of having a shapeshifting dad who seemingly loves you and your eye color a lot (but is still absentee, WHOOPS).

But what I actually found the most interesting about Estelle was her hair color. More specifically, the fact that Apollo says he's never seen an infant with that color hair. And we know Apollo is somewhat of an unreliable narrator (although this rarely affects his descriptions of people other than himself, and has also mostly evolved into a more honest narration since the end of book 3), but I believe we're supposed to trust this dude who just so happens to have been alive for over four millennia. Based on Apollo's previous descriptions of his own powers (see his conversations with Percy in TTC, when he pulls a Mufasa and basically admits to seeing everything the light touches), we know that Apollo knows and has seen a lot of stuff. So, how is this the first time he's seemingly witnessed this type of hair mutation?

I did some research, as one does. To me, it seems as if Estelle has what's called Griscelli syndrome, which is a type of rare autosomal genetic mutation that typically results in phenotypic hypopigmentation of the skin and hair. (It can also result in neurological disorders and immunodeficiency, based on the type, but I digress.) It's also pretty rare, considering both parents have to be carriers, and even then the child still has a one in four chance of being affected. Current statistics from the NIH say that Griscelli syndrome currently presents in less than 1000 Americans, and is rapidly fatal in 1-4 years without aggressive treatment.

That sad note aside, it's weird to me that the way Rick wrote Estelle's physical description makes it seem as if Apollo had never seen anything similar. I feel like a god of both medicine and knowledge would probably be a bit more up to speed with rare genetic disorders, especially because he's so old. The only explanations are that Apollo, in his mortal state, can't make a diagnosis, OR what he's seeing isn't actually something he can diagnose.

FURTHERMORE, from the same chapter, Apollo says something that muddies the waters even further:

It doesn't make sense that Apollo thinks that Zeus would take such an interest in Estelle. Her nature alone doesn't make me think that the king of the gods would take a sudden interest in a literal newborn, regardless of how much Apollo loves her (and honestly, I don't blame him).

What I think? Rick pulled the strings just tight enough that he has a very interesting plot point to go off of if he ever decides to pick up the pen again and write a new book.

What I think? Estelle doesn't have Griscelli syndrome, she is in much more danger than anyone realizes, and Apollo's subconscious put this together from the second he saw her.

Actually, let's rewind. I'm in the process of writing a fic (stay tuned!) and I had a random thought: do the Greeks have an apocalypse story? You know, like Ragnarök in the Norse mythos, and the Revelation stories in the Bible.

The answer? They don't. I guess that's what you get when the Greco-Roman gods are fully immortal and literally can't be killed.

That didn't stop the rabbit hole, though, and what I found was actually very interesting and I couldn't believe what I was reading.

I give you: Hesiod. More specifically, his poem Works and Days. More more specifically, his 'ages of man'. More more more specifically, the iron age.

For context, Hesiod was an ancient Greek poet who lived in the 8th century BC, and was walking right along with Homer in terms of fame at the time. The poem Works and Days is actually more of a really long Facebook post where he complains about anything and everything, especially in his section on the ages of man.

In summary, Hesiod wrote about what he perceived to be the five stages of human life since the creation of mankind by Zeus' hand:

gold: perfect in every way, pious, and blessed by the gods

silver: real bitches, the ugly middle child, so Zeus killed them

bronze: were so violent they wiped each other out

heroic: golden child, contained the heroes of the Greek mythos

iron: middle-aged men still living in their mom's basement

Hesiod wrote his poem during what he perceived to be the Iron age (it's really just him complaining about being born in the wrong generation), but he ends up listing a lot of qualities: 'everyone works too hard, the gods hate us, nobody respects family values anymore', blah blah blah.

I know what you're thinking: Tia, what does this have to do with an apocalypse?

Well, dear reader, bear with me. You see, every time Zeus didn't like an age of mankind, or it became too violent, or it generally wasn't pious enough, Zeus wouldn't hesitate to destroy that race and start over. Basically, an apocalypse.

So, you may ask a new question: what is the criteria for Zeus to destroy the Iron age? And, assuming that this is the age we're currently in, what would it take for Zeus to destroy everything our beloved Riordanverse characters know and love?

My friend, that is where Estelle comes in. Yes, a baby.

Take this excerpt regarding the Iron age:

"And Zeus will destroy this race of mortal men also when they come to have grey hair on the temples at their birth."

I think you see where I'm going with this.

My theory? Estelle, in her unique position as a bridge between not just the mortals and the demigods (eg. her relationship with Percy), but also the mortals and the gods (eg. her great impression on Apollo), is a living, breathing prophecy. A prophecy that the end is nigh for this current age of mankind.

Furthermore, I also think that Apollo made this connection, somewhere in the back of his mind, the very second he realized that her hair was entirely unique. According to Hesiod (who Apollo also mentions later in the book, so we know he knows who Hesiod is), the day that babies are born with gray hair (or, salt-and-pepper for the sake of the theory) is the second Zeus basically get the go-ahead to commit genocide.

This also brilliantly explains why Apollo suddenly, and seemingly without reason, makes to keep Estelle's existence a secret from Zeus, because he knows that it might be the easiest way to get everyone he knows and loves killed by his own father for "the greater good" as I'm sure Zeus will put it. Plus, in his mortal state, Rick didn't have to explain why Apollo did what he did, since Apollo's been having memory issues since the beginning of the series: why would he remember one line from a poem written almost three thousand years ago?

Frankly, Zeus doesn't care about mortals: the only reason he really cares about anyone is if they have enough power to threaten his own, or if they have some sort of power he can benefit from. This, certainly, falls under the category of the latter. Wouldn't you want a chance to remake humanity into the perfect image that it used to be? You would, if you hadn't gone through a five book long grow-a-conscience speedrun like our lovely Apollo over here.

Fortunately for Rick, this is such an outrageous theory that if it never comes to fruition, I won't be surprised. If he ever writes something similar, though, know I called it first.

EDIT: here's the fic i mentioned i was (am) writing

EDIT: a masterlist of my other metas

[furiarossa]

Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development.

Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead. There is nevertheless great variation in the degree and pattern of presentation, even within affected families.

Although "partial albinism" is a synonym for piebaldism,[3] it is a fundamentally different condition from true albinism. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment altogether.

Hypopigmented patches of variable extension, irregular, bilateral, symmetrical or asymmetrical, well demarcated, can also be located along the midline on the chin, chest, abdomen and middle third of the limbs. Subsequently, you may see the appearance of hyperpigmented patches in the center or at the edges of the hypopigmented patches or, less commonly, on normal skin.

Piebald hypopigmentation usually does not affect hands, and since we always see Vlad covered from neck to feet (personally we tend to not consider much the informations that we get from the third season, everything is so silly...), can it be possible for him to have the hypopigmentated pattern on his body? Y'know, typical piebald pattern?

(Illustration from this document)

(A little unrelated curiosity, and I don't know why I find it amusing and interesting, but Aldo Moro, one of the most famous and important Italian prime ministers, was piebald and he's on the Italian wikipedia page for piebaldism)

[nunalastor]

(Reply to the cursed webbed hooves incest ask from a few days ago)

When occurring alone without any other disorders/syndromes, syndactyly (webbed toes/fingers) is always autosomal dominant, meaning that it cannot be inherited through a parent which doesn't have it. We know that Charlie doesn't have it, but since we've never seen Luci's feet, he could have webbed feet/hooves, which would be really cute if he did. But in that case, the syndactyly wouldn't be caused by incest, but rather by one of the parents already having the genes and simply passing them on.

Inbreeding is dangerous specifically because family members tend to carry the same (potentially dangerous) recessive alleles due to them being closely related and likely receiving them from the same person. Some of these recessive alleles might be deleterious mutations, which are the reason why incest is so infamously associated with health problems.

The most simple genetic model to explain how this works is Mendel's Punnett square (I recommend googling this to visualise), which goes as follows: 2x dominant alleles result in offspring with a phenotype (visible characteristics) of the dominant allele (genotype AA), and 2x recessive alleles result in offspring with a phenotype of the recessive allele (genotype aa). It gets more interesting when putting together 2 people with each 1 dominant and 1 recessive allele (genotype Aa), this results in 75% offspring of the dominant phenotype (genotypes: 25% AA and 50% Aa), and 25% of the recessive phenotype (genotype aa).

In this case, syndactyly is caused the allele A (simplified for the sake of this fucking post), meaning that AA or Aa genotypes have the syndactyly phenotype, a.k.a. people with these genotypes have webbed fingers or toes. People who don't have syndactyly have an aa genotype, meaning that they also cannot pass on a syndactyly allele to their offspring.

Since syndactyly is caused by a dominant gene, it isn't and cannot be caused by inbreeding outright.

You might have noticed that I explicitly talked about syndactyly separate from any other disorders/syndromes. Well, that is because syndactyly can also be a symptom associated with a number of rare conditions. I'm not going to list all of them because there's a lot, but what you need to know is that its most commonly associated condition is none other than Down's Syndrome, which is believed to be caused by chance alone. Said chance increases as the parents age, but it is not inherited, and its chances of occurring are probably not increased via inbreeding.

With most of these other disorders, it is quite apparent if one has it, therefore we can safely say that neither Charlie or Luci have such a condition. And since most of the other conditions are dominant, which means that we can skip these since the argument has already been made.

However, Carpenter Syndrome, Filippi Syndrome, Fraser Syndrome, and Smith-Lemli-Opitz Syndrome are all autosomal recessive conditions which might have syndactyly as an additional symptom. But if you take a look at what the other symptoms of these conditions are, you'll find that syndactyly is the least concern. Hypothetically the frequency at which these conditions occur could be increased via inbreeding due to (once again) recessive alleles coming together, but because of their rarity, we know very little about these conditions and how they are inherited as of now. The initial cause cannot be properly traced back to form a proper conclusion. And I couldn't find any studies that discussed any of these conditions and the impact inbreeding has on them.

When not outright inherited from a parent, the remainder of these conditions are caused by various types of mutations, and contrary to popular belief; incest does NOT cause mutations, it simply makes it more likely for already existing mutations to cause problems because of recessive alleles coming together.

So no, Charlie and Luci's incest babies wouldn't have webbed hooves, and if they did, it would be because of sheer bad luck unrelated to incest, or because Lucifer already has them (which is now my headcanon).

Sources:

"Webbed Fingers" by Adrian E. Flatt (scientific article)

"Genetic Consultations in the Newborn" by Robin D. Clark and Cynthia J. Curry (book, specifically chapter 33 "Syndactyly")

I'd cite my sources better but it doesn't allow me to ask anonymously if I put in links :(

Also, I should probably mention that this post is not peer-reviewed. Let me know if I messed up somewhere xoxo

adding sources is crazy

[merlions]

I really really truly am not meaning to be mean because I absolutely!!! respect people thinking I'm an insane little hypochondriac. I mean, it's like my friends and family's favorite pastime and it seems like so much fun for everyone that I can't shame them for shaming me. It seems like it's really fun for them!

But I'm just saying that. It is a little confusing to me. When a first degree blood relative of mine, who has a lot of problems that seem like they stem from the same genetic disorder I have, generally, speaks specifically about having a problem which is specifically associated with that disease. And asks if I experience the same thing.

And I go, "yes! I have been diagnosed with an autosomal dominant genetic disorder, which is what causes me to experience that problem. And as a person who shares my genes, it's possible you might also have the same genes I have! I wonder if you might have also inherited the same genetic disorder due to having many of the same genes as me?" And they act like I'm an absolutely insane person for even suggesting that.

Like we have all been tested for multiple genetic diseases from each side of the family. Doesn't seem that crazy to think maybe this genetic disorder that I have been formally diagnosed with may have come from somewhere! Or that it may indeed have passed onto my siblings as well! But idk man!! Maybe I am just pretty insane haha 🤡

[pruengs]

a symptom of being human - master post

a symptom of being human is my humanverse gerame & pruk hetalia au. i am hoping to write a cohesive story about it one day but for now i'm compiling this information here (taken from discord & my google doc) for you to look at. i'll link to the other posts here.

all posts of this au will be tagged as #asobh.

general info.

it's set in germany. arthur meant to study abroad for two semesters, but ran into gilbert because they studied the same thing (art history) and then never left. alfred wanted to escape the unites states and went to germany as an au pair, which is where he met ludwig.

arthur and gil are 4 years older than lud and al.

ludwig has autism.

alfred & gilbert are trans.

arthur speaks fluent german, alfred is learning german but is having a much harder time learning it than arthur.

alfred and matthew are still twins, but matthew lives with his father in canada, while alfred lived with his mother in the united states. they still talk generally.

the next paragraph is technically also general info but it needs to be expanded so it gets its own bullet point list here.

gilbert and his thing with death.

terminal illness! discussion of death and dying!

gilbert has an unspecified illness that is going to kill him before he's 30. i haven't decided on what yet, but it's a degenerative disease that he was born with, and it got diagnosed when he was a young child, and he has been raised with the knowledge that he won't make it past 30.

UPDATE: gilbert has hermansky-pudlak syndrome type 1, an extremely rare autosomal disorder, that causes albinism, bleeding diathesis, immunodeficiency, and pulmonary fibrosis.

he has a life expectancy of around 30, and has been raised with that knowledge. he's well aware he's going to die.

so is ludwig, of course, but it's still hard on everyone. ludwig cannot cope with the concept well, because he cannot fully grasp it.

gilbert's mortality especially becomes an issue once the relationship between arthur and gilbert becomes serious.

because gilbert didn't talk about it when they got together, because he assumed they wouldn't stay together long enough anyway, and then suddenly arthur is proposing to him and gilbert realizes this is a conversation they have to have immediately, 'cause he will not marry him under false pretenses.

gilbert is pretty optimistic despite the dying thing, usually. he planned his own funeral because he's pragmatic like that. his testament is written and he jokes about it constantly, he doesn't care because he never knew anything else. but of course even he has his limits and gets very, very upset about it sometimes.

when it comes to leaving his family behind, or even more personal things.

like settling down or starting a family he has difficulties dealing with it. because he's good with kids, maybe would even like some, but he knows it's not really feasible. he wouldn't live long enough to see them growing up, and he couldn't put the stress on arthur on raising children alone, and he couldn't put the stress on the children either. to lose a parent. adopting isn't an option because of that, and biological kids even less so because he would be too scared of passing his illness on. and he is really struggling with it, because it's something he always wanted.

the only person gilbert really talks about his issues with is his father. gilbert can't possibly imagine how hard it must be for him to know he's going to lose his son, but he talks things through with him a lot and in the end they both feel better, especially because gilbert sometimes just needs to rant.

that and his therapist. because you bet your ass germania put this kid in therapy the moment that diagnosis came.

links.

the german family. german family part 2.

pruk.

germerica.

bad friends trio.

roderich.

misc.

fic: baby, pull me closer. [prueng, explicit]

[will be updated with other links, like arts or fic.]

[lune-de-miel-au-paradis]

About Nina Cerasus’s illness the HCM

I mentioned in most of the chapters in Star-crossed and in Heavenbound (they both my fic you can read them here) that she has an illness that causes her character to have some plotlines and complexity. 

It is actually a rare disease in real life, and not many know about it, so I decided to make an extra post to share some extra info about it. Let’s dig in!

About HCM: 

It’s a type of heart disease called hypertrophic cardiomyopathy (HCM). 

It basically causes the heart muscles to thicken, which in turn makes it more difficult to pump blood through the body’s system. HCM is a heart disease that can affect how effectively the heart can pump blood.

HCM is autosomal dominant condition, meaning that individuals have a 50% chance of inheriting, or passing on, the predisposition to this disorder to their children. (Nina inherited from her father Felix who already had a heart transplant surgery.)

What is it like to live with a disease like this? 

The symptoms that Nina exhibits include shortness of breath, chest pain, and a propensity for fainting or feeling dizzy. There’s also a heightened risk of heart failure or sudden cardiac death. Also the medications she needs to take, make her often have a cold nose, hands and feet. 

People with hypertrophic cardiomyopathy (HCM) will benefit from a heart-healthy diet. This includes a diet rich in fruits, vegetables, and whole grains and low in added sugar, sodium, and trans and saturated fats.

So Nina usually eats a very healthy balanced meal.

Making lifestyle changes such as exercising more, quitting smoking, and avoiding alcohol are beneficial. However, if you have HCM you should speak with a doctor before increasing your physical activity. The recommendation for people with HCM is to avoid high-intensity exercise since it can worsen symptoms. This is why Nina has pilates classes with Master Plo, and meditating classes.

About drinking coffee or other caffeinated drinks, always talk to your cardiologist! Because  caffeine is a stimulant that affects everyone differently. If you are living with HCM, know how the foods, beverages, and supplements you consume could affect your heart rhythm.

Like alcohol, caffeine can also cause dehydration, which can worsen the symptoms of HCM. Ask your doctor about caffeine and what levels of coffee, soda, tea, and other caffeinated products are safe for you to drink.

I made Nina a tea girlie. 

Women with HCM generally tolerate pregnancy well. The risk is however higher in women who are symptomatic before pregnancy or in those with severe left ventricular outflow tract obstruction. The incidence of arrhythmias does not appear to be increased during pregnancy and maternal mortality is low. But I made Nina make the decision to not have her own biological baby, and choose adoption instead in the Heavenbound storyline.

Author's Note: 

I have to say that people with this kind of disease can live a normal life.

But I slightly overemphasized Nina's illness at certain points for dramaturgical reasons.

For example, hyperspace travels take a toll on her, if she doesn't receive certain treatment beforehand. This idea came from the fact that all travel can be physically stressful for us, so traveling in space and hyperspace jumping can certainly have an even greater effect on a person, and there is also space radiation. Thus, Nina must receive a certain vitamin cocktail injection in my story before the trip. This is, of course, fiction!

Nina avoids alcohol, smoking and caffeine-based drinks mostly. In her early 20's and party years she drinks and occasionally smokes, and quits it after receiving some bad news of her health.

She drinks mint tea. She exercises often and takes the necessary medications despite the side effects. She chose not to have a baby because she does not want to pass on this disease and is also afraid of death caused by childbirth.

I also wanted to show the emotional side of what it's like to live with this type of illness. In Star-crossed fic I have written many emotions based on my own experiences. (Not everyone accepts this disease with such feelings, of course it happens differently for everyone.) But in Nina's point of view - even if it was a little exaggerated - I gave her a lot of emotions and memories from my life. 

In the first chapter and several other crisis situations, Nina experiences these  emotional "storms". 

These panic attacks usually happen to her after experiencing trauma. For example, when her mother died or when her father left them. When she found out about her illness and when Maul left her. (all mentioned in Star-crossed fic).It’s basically a panic attack mixed with deep repressed depression bursting out. 

She called these episodes "storms" because just like the rain clouds these episodes end eventually.

Under these episodes she usually feels chest pain, dizziness, nauseous and she can't stop crying for a long time. 

Nina is terribly ashamed of these episodes, she feels weak and vulnerable, which she hates. In such cases, she releases all suppressed anger and sadness by crying. When they are over, Nina is numb and quiet, her mind clears as she rebuilds her armor/or inner world. She represses and buries all the painful memories and thus tries to move on. (The first chapter of Star-crossed is basically an episode of one of her "storm.")

I know I kinda trauma dumped her, but don't feel bad about it. With these illnesses both physical and mental I wanted to give her character some complexity, and some dramatic deep feelings.

She is my character and I wanted to write a character who has the same illness as me. This is a kind of personal coping mechanism for me and I don't want to receive negative comments about it. If you don't like it, or triggered by it then, please move on to another blog and another story.

Taglist: @hellhound5925 @cloneloverrrrr @stardustbee @the-chains-are-the-easy-part @firstofficerwiggles

let me know if you would like to be added!

[eliteayurveda]

11 Skin Conditions You’ve Almost Certainly Never Heard Of

Millions of people in India suffer from at least one skin condition. You’ve probably heard of the more common ones, such as acne, eczema, and rosacea. In fact, there’s a strong possibility you have one yourself.

There are also a number of uncommon skin problems that you may be unaware of. They can range in severity from minor to fatal. They can have an impact on the quality of life of persons who develop them in some situations.

Continue reading for an overview of some of these lesser-known conditions.

Hidradenitis suppurativa

Hidradenitis suppurativa (HS) is a chronic inflammatory disorder that causes lesions to grow on skin-to-skin contact points on the body. The following are the most prevalent locations for breakouts:

underarms, groin, buttocks, upper thighs, and breasts

Although the etiology of HS is uncertain, hormones are likely to play a role in its development because it often begins around puberty.

The illness affects up to 2% of the population. It is especially common in those who are obese or who smoke. Women are more than three times as likely than men to have HS.

Genetics and the immune system are thought to play a role in who gets the condition.

DID YOU KNOW?

People who have hidradenitis suppurativa are more likely to have specific conditions (or comorbidities), such as:

inflammatory bowel disease (IBD) acne

Acne conglobata, dissecting cellulitis of the scalp, and pilonidal sinus disease are all part of the follicular occlusion tetrad (a collection of inflammatory skin disorders).

metabolic disorder

PCOS (polycystic ovarian syndrome)

Type 2 diabetes with squamous cell carcinoma of the afflicted skin

The first signs of HS are outbreaks that resemble pimples or boils. These outbreaks could remain on the skin or fade and recur.

If neglected, more severe symptoms like scarring, infection, and breakouts that rupture and produce a foul-smelling fluid might develop.

There is presently no cure for HS, however there are several therapy options to assist control symptoms. These are some examples:

topical ointments, anti-inflammatory medications, injectable biologics, and hormone therapy

In more severe situations, surgery may be recommended.

Psoriasis inversa

Intertriginous psoriasis is another name for inverse psoriasis. This illness, like HS, causes red sores on regions of the body where skin touches skin. These lesions do not resemble boils. They appear smooth and gleaming.

Many persons who have inverse psoriasis have at least one other type of psoriasis on their body. Experts aren’t clear what causes psoriasis, but genetics and the immune system both play a role.

Psoriasis affects roughly 3% of the world’s population, and 3–7% of those with psoriasis have inverse psoriasis.

Because the skin in high-friction parts of the body is sensitive, treating the condition can be challenging. Steroid creams and topical ointments can be beneficial, but they can also cause unpleasant irritation if used excessively.

People with more severe inverse psoriasis may also require UVB light therapy or injectable biologics to manage their illness.

Harlequin ichthyosis

Harlequin ichthyosis is an uncommon genetic condition that causes children to be born with rough, thick skin covered in diamond-shaped scales.

These plates, which are separated by deep fissures, can shape their eyelids, mouth, nose, and ears. They can also impede limb and chest movement.

Around 200 instances have been recorded around the world. The disorder is caused by a mutation in the ABCA12 gene, which permits the body to produce a protein required for normal skin cell formation.

The mutation hinders lipid transfer to the skin’s top layer, resulting in the scale-like plates. Because of the plates, it is more difficult to:

control water loss

combat illness by regulating body temperature

Harlequin ichthyosis is an autosomal recessive condition caused by faulty genes inherited from both parents.

Because biological carriers rarely show symptoms, genetic testing can detect changes in genes and calculate your risk of developing or passing on genetic illnesses.

A stringent regimen of skin-softening emollients and skin-repairing moisturizers is the most popular treatment for harlequin ichthyosis. Oral retinoids may also be utilized in extreme situations.

Morgellons syndrome

Morgellons disease is an uncommon ailment that causes microscopic fibers and particles to emerge from skin wounds, giving the impression that something is crawling on the skin.

The Morgellons Disease is poorly understood, although it affects nearly 14,000 families, according to the Morgellons Research Foundation.

Morgellons disease is most common in middle-aged Caucasian women. It’s also closely linked to Lyme disease.

Because the symptoms are similar to those of a mental health illness known as delusional infestation, some experts assume it is a psychological issue.

The symptoms are unpleasant but not life-threatening. Typical symptoms include:

weariness anxiety sadness itchy skin rashes or sores black fibrous substance in and on the skin

Lesions only affect one part of the body: the head, trunk, or extremities.

There is no standard treatment option for Morgellons disease because it is still poorly understood.

People suffering with the disease are usually encouraged to maintain close contact with their healthcare team and seek therapy for symptoms such as anxiety and depression.

Elastoderma

Elastoderma is an uncommon disorder characterized by increased skin looseness in particular parts of the body. As a result, the skin sags or hangs down in loose folds.

It can affect any region of the body, but the neck and extremities, particularly the elbows and knees, are the most usually afflicted.

The illness affects less than one in one million persons worldwide. Elastoderma’s actual cause is unknown. It is assumed to be caused by an excess of elastin, a protein that provides structural support to organs and tissues.

Elastoderma has no cure or recommended treatment. Some people will have surgery to remove the problematic area, although the loose skin often returns after the procedure.

Pilonidal sinusitis

Pilonidal sinus illness causes small holes or tunnels at the buttocks’ base or crease. Because symptoms aren’t always clear, most people don’t seek therapy or even recognize the issue until it causes problems.

It is caused when the hair between the buttocks rubs together. The friction and pressure that results pushes the hair inside, causing it to become ingrown.

This minor illness affects 10 to 26 people in every 100,000. The majority of people with this illness are between the ages of 15 and 30, and men are twice as likely as women to have it.

It frequently affects persons who work occupations that demand long periods of sitting. It is often associated with hidradenitis suppurativa (HS).

A few things influence treatment for an infected pilonidal sinus:

signs and symptoms

the size of the abscess, if it is a new or recurring infection

In most cases, treatment entails removing any visible pus from the affected pilonidal sinus. Antibiotics, hot compresses, and topical ointments are also frequently utilized.

If you’re one of the 40% of people with the illness who has reoccurring abscesses, talk to your doctor about other surgical alternatives.

Pemphigus vegetans

Pemphigus is classified as an autoimmune illness by the National Institutes of Health (NIH)Trusted Source. It causes your immune system to target healthy epidermal cells. The epidermis is the top layer of the skin.

Lesions or blisters form where skin naturally meets or rubs together, as in HS. They can also be found in or on the:

mouth, throat, eyes, nose, and genital areas

Pemphigus vulgaris is the most common kind of pemphigus. It affects 0.1 to 2.7 persons in every 100,000.

Pemphigus vegetans, a pemphigus vulgaris variation, accounts for 1 to 2% of pemphigus cases globally.

If untreated, Pemphigus vegetans can be lethal. The treatment focuses on removing the lesions or blisters and preventing them from recurring.

Corticosteroids and other anti-inflammatory steroids are frequently used as the first line of defense. In addition, you can have surgery to remove the lesions or blisters, while also cleaning and dressing the affected area on a daily basis.

Medicated mouthwash or clobetasol, a corticosteroid and ointment used to treat oral problems, are examples of mouth and throat remedies.

Crohn’s disease 

Crohn’s disease is an inflammatory bowel disease (IBD) of the digestive tract.

It affects around 780,000 Indians. Every year, approximately 38,000 new cases are reported. Researchers believe that genetics, the immune system, and the environment all have a role in Crohn’s disease development.

Between 20 and 33 percent of persons with Crohn’s disease have skin lesions as a result of the condition. This is referred to as a cutaneous epidemic.

Cutaneous lesions, which resemble genital warts, appear after bowel disease has shown on the skin or another organ outside of the intestinal tract. The eyes, liver, and gallbladder are all included. It might also have an impact on the joints.

If your Crohn’s disease and lesions have metastasized, or spread, they can become painful and potentially lethal. There are currently few therapy options for this stage.

Sneddon-Wilkinson syndrome

Sneddon-Wilkinson illness is characterized by clusters of pus sores on the skin. Subcorneal pustular dermatosis (SPD) is another name for it.

Experts are unsure what is causing it. The disease, which is uncommon and sometimes misunderstood, primarily affects persons over the age of 40, particularly women. As a result, its precise prevalence is uncertain.

Soft, pus-filled pimples occur between skin that rubs together a lot, just like in HS. Skin lesions appear on the body, between skin folds, and in the vaginal area. They “explode” as a result of friction.

This popping of the lesions may be accompanied by an itchy or burning feeling. These feelings are followed by scaling and discolouration of the skin. Despite being chronic and painful, this skin ailment is not lethal.

The antibiotic dapsone is the preferred treatment for this condition, with a daily dose of 50 to 200 milligrams (mg) taken orally.

Lichen planus 

Inverse lichen planus pigmentosus is an inflammatory disorder that causes skin fold discolouration and uncomfortable pimples.

Only about 20 cases have been documented worldwide, mostly affecting Asians. Nobody knows what is causing it.

Small clusters of flat lesions, or macules, of discolored skin appear. They don’t normally contain pus, but they do occasionally. Some people’s skin spontaneously clears up with time, whilst others may experience symptoms for years.

This is a mild condition that can be addressed with a topical treatment. Corticosteroids are the most often used treatments for wound healing and can even aid with pigmentation in some situations.

Dowling-Degos syndrome

Dowling-Degos disease is a hereditary illness that causes darker skin, especially in folds such as the armpit, groin, and joint areas.

Pigment changes can also affect the neck, hands, cheeks, and scalp, albeit they are less prevalent.

The majority of the lesions are minor and resemble blackheads, however red areas resembling acne might form around the lips.

Lesions on the scalp might also look as fluid-filled lumps. Itching and burning sensations are possible.

Skin changes, like HS, occur in late childhood or early adolescence.

However, some people do not have breakouts until they reach maturity. Dowling-Degos is not a life-threatening disease, but it can cause distress and worry in those who have it.

This disease presently has no cure. Treatments ranging from laser therapy to topical steroids to retinoids have been tried, but results have been mixed, and nothing has proven to be consistently successful.

Takeaway

If you have a skin issue, pay attention to your body and treat any signs seriously.

Consult your doctor who can assist you in obtaining a diagnosis and determining the best treatment options for your specific problems.

[er-cryptid]

Patreon

[dollsonmain]

Oh, so this is what the doc is testing for, now.

I think it's a waste of time and money, considering the reason I had kidney stones was that there was HYPERcalciuria.

But.

Other test results changed after all the surgeries and antibiotics, so that might have, too.

She said that if I don't have enough calcium in my urine, then it's an indicator of this genetic disorder and that would mean parathyroidectomy wouldn't help.

Though she did also say it's most like primary hyperparathyroidism even though I'm missing the gut symptoms, and that would be helped by surgery but that surgery can lead to hungry bone syndrome.

[the-feminist-philosopher]

Debunking the Trans-Exclusionary's Pseudoscience: a thread

Yes, all embryos start with the same template. No, this template is not "female." Ovary and testis development require complex genetic regulation. Neither can really be said to occur by "default."

"We have just begun to glimpse into the mechanisms underlying ovarian development. Convincing evidence challenges us to reconsider the existing paradigm that describes ovarian development as a default system. The default concept was first proposed in the early 1950s when Jost performed the groundbreaking experiments to demonstrate mechanisms of sex differentiation of reproductive tracts (Jost, 1947, 1953, 1970). The term “default” was not originally intended to describe the developmental status of the ovary. Instead, it is referred to the female reproductive tract or the Mullerian duct based on the fact that the female reproductive tract forms in both XX and XY individuals in the absence of gonads. Indeed, now it has become evident that early ovarian development is an active process involving intrinsic cell fate decisions and complex crosstalks between germ cells and somatic cells. Most intriguingly, the appearance of testicular structures in XX individuals where Sry and its downstream components are absent..." -Yao 2005

Sex determination in mammals involves the development of a bipotential gonad into either a testis or ovary. Studies have suggested that at the start of mammalian reproductive development, both male, sperm-carrying reproductive tracts and female, egg-delivering reproductive tracts are present. Depending on the sex of the embryo, one set of tracts usually disintegrates as development proceeds.

Ovarian development is centered on beta-catenin protein stabilization by WNT4 secretion, and this is believed to inhibit the expression of SOX9 (which is pivotal in male sexual development).

Do not let them fool you. Ovarian development is a very active process. Nothing can be said to happen by "default."

Continuing to spread this narrative actually contributes to spreading the patriarchal idea of "male" as inherently active and "female" as inherently passive.

Sex differentiation is a feature of the patriarchy that posits that “men are men” and “women are women” and the two ought be and fundamentally are separate from each other. It is responsible for the social prescription that each group must stay within certain bounds of public and private life as well as certain bounds of behavior and certain bounds of presentation. One such social prescription is assigning to men the role of Actor and Aggressor and to women the role of the passive Recipient of aggression. This gendered association decreases the perception of women as empowered agents (and even human). This social prescription also encourages men to act on behalf of women from making financial or relationship decisions, to deciding when and where and how a woman has sex, to the definition and social prescription of "woman" and "female," and to the reproductive alienation of those assigned female.

Please, for the love of fuck, do not spread the myth that the vagina has a natural spermicide. Does a "female" system cull most sperm? Yes. Because our species developed the ability to cull potentially "off" offspring that would be detrimental to species survival. In evolution, if it hurts, it goes. If it's disadvantageous, but has limited benefit, it stays. If it doesn't hurt, it also stays. The two-tailed sperm swimming in circles- for example- isn't staying.

Yes, there are women with immune infertility whose immune system attacks sperm. Yes, white blood cells will kill off lots of sperm. Yes, lots of sperm will literally get "lost" or "caught" in linings. And, yes, lots of sperm die because of the acidity of the vagina. HOWEVER, when the egg follicles mature and prepare for ovulation, the pH of cervical fluid rises, bridging the gap between the acidic vagina and the alkaline sperm. The egg literally releases hormones to better allow for fertilization while the semen forms a gel which provides protection for the sperm from the acidic environment of the vagina. In fact, contractions in the reproductive tract can propel sperm toward the oviducts. And there's also a reason there are about 200 million sperm in a single ejaculation.

The vagina DOES NOT have a built-in spermicide. PLEASE, please, wrap it before you tap it. DO NOT let misinformation like this convince you that your vagina will just kill the sperm and reject any and all pregnancies. The body both helps you get pregnant or helps you avoid it depending on the compatibility or survivability of the sperm and the pregnancy material. If there's something real screwy (including being malnourished), it's not making it. BUT that doesn't mean you CANNOT get pregnant.

SPERM can survive in the female genital tract for up to FIVE whole days. Sperm are very-very tiny and they can, and will, make it. Additionally, bleeding and getting pregnant are not mutually exclusive. You CAN get pregnant while on your period. Don't take risks because of misinformation like this.

I'm scared to know how this person thinks people become pregnant.

I-- didn't even know what to make of this when I read it. What a way to stigmatize female genital tracts as an "other" by describing it as "reptilian." So, I want to take a moment to talk about the vagina dentata and the patriarchal association of women with the monstrous, often snakes or other reptiles.

While not all of them do, many vagina dentata folk tales explicitly articulate male fears of castration in the act of PiV sexual intercourse. These myths will warn of the necessity of violently or forcefully removing the teeth from women’s vaginas to transform her into a nonthreatening sexual partner. In most cases, these myths can be read as the patriarchal attempt to render female sexuality non-threatening and strip it of it's "danger" (temptation) to men. There is one author I remember reading who spoke of a connection between this myth and the practice of FGM and rape epidemics.

These myths seemed to act as a cautionary tale to men to beware where they stick it, least they lose their dick. Unless, they first forcibly broke the teeth (rape) or neutralized the temptation (marriage) or removed a woman's "promiscuousness" (genital mutilation).

The Greek figure of a Gorgon is representative of this concept, as is the mermaid. The "devouring mother" in many religions and mythologies often took the form of a serpent or a snake woman. The fearful aspects of the feminine were also sometimes represented by a woman with a phallus. But, once all her vagina teeth were knocked out by the male hero (sometimes a son), the devouring mother would lose her masculine characterization in these tales, transforming from a Terrible Mother (a manifestation of the Great Mother archetype) to something desirable to men (the Kindly mother). Many of these myths served to portray the feminine as terrifying as well as something negative.

Now, I'm pretty sure that she's referring to the squamous cells, which *look like* fish scales. The only context most people have likely heard this term used is in reference to cancer. For context, it's these thin, flat cells that you likely looked at under the microscope in 9th grade biology class:

These cells are found in the tissues that form the surface of the skin, the passages of the respiratory and digestive tracts, and the lining of the hollow organs of the body (such as the bladder, kidney, and uterus, including the cervix). They can be keratinized or nonkeratinized. Reptile scales are keratinized. No, your genital tract is not "reptilian." It is very much mammalian and human.

Another thing I want to tackle is the teleological argument briefly touched on in this post. Teleology is the idea that something has a telos- a purpose, goal or final end. Evolution does not have a purpose. It makes no conscious decisions or sets any goals. There's no final end to evolution. Our insistence that evolution has an end and an overarching purpose is a remnant of Social Darwinism. Menstruation in mammals has no inherent purpose or end. Menstruating makes no decisions and it sets no goals. A vagina, similarly, has no inherent purpose or end-goal.

When educating people on reproductive tracts, many people may use teleological phrasing, saying that the vagina's purpose is to receive a penis or hold sperm until it can pass into the uterus or provide a passage for childbirth.

Unfortunately, our language is limiting. Because *function* can mean something has a certain *purpose.* So, I want it to be clear that I use "function" to mean something which carries on an action, rather than something with a set objective or end to be attained. In this case, saying that an organ has a function is thus very different from talking about it's purpose. Through evolution, we developed tissues and organs with specialized functions. These organs can carry on specific actions. For a vagina, these actions include 1.) providing passage for blood and mucosal tissue from the uterus, 2.) providing passage for sperm to the uterus, and 3.) providing passage for live birth.

Now, I am being very careful with my language full-well knowing that if I simply say, "The function of a vagina is also to provide passage for live birth," a trans-exclusionary will shoot back, "So, you think the purpose of female organs is to give birth?" This retort, and the fact the featured poster says "[f]ar from every woman gives birth [and] [m]any women have no desire for penetrative sex," makes it clear that "rad fems"- including the featured poster- are making teleological arguments.

Because I am saying that, during the course of evolution, we developed organs that carry on specific actions. I am not saying they were *designed* for a purpose, but that they developed to operate specifically and perform specialized functions. During the course of evolution, we developed kidneys to filter blood of toxins and turn waste into urine. This does not mean the kidneys were planned nor does that mean that a kidney designs to find impurities in our blood. Kidneys do not have a goal or an ambition or an aim.

Their equivocation on "function" and "purpose" serves to hide teleological arguments behind "scientific" sounding language as well as turn their assumption that we're operating with teleological statements around on any dissidents. This way, when someone points out that species developed reproductive tracts which perform reproductive functions, they can accuse you of reducing a woman's "purpose" to childbearing and taking dick.

However, their insistence that *they're* operating only based on "the science" allows them a degree of plausible deniability when women, feminists, and LGBTQ+ activists and allies tell them that their definition of a woman ironically does exactly that: reduces a woman to a reproductive purpose. Women and feminists and queer activists alike have noticed that the transphobe is operating off of teleological assumptions and trying to hide behind science and "biology" to mask this. They recognize that "a woman is an adult human of the sex that can bear offspring and produce ova" is an also an "ought" statement: a woman ought to be someone who bears children and produces eggs.

It might *seem* grammatically declarative. However, when we are naming something, we are also categorizing it, saying it performs at least one function sufficiently enough to meet the requirements of the description, and saying it performs that function well enough to be named one thing instead of another. We are fitting it within certain bounds, and thus giving it social meaning and value.

A mutual (@/dark-and-sparkles) gave this example:

"This is a chair," doesn't simply describe a chair or declare that a chair is present. A chair is an object with a specific form, function, and social meaning; when we are naming something a "chair," we are evaluating it on its ability to serve our purposes as a chair. If it didn't perform these functions well, we either would see it as faulty (another socially loaded description) or wouldn't pick it out as a chair at all."

Making linguistic and categorical distinctions can have teleological implications.

No organ has a primary "purpose." Organs have basic functions and features which operate specifically. So, yah, not every woman will give birth or have penetrative sex. But those social decisions mean absolutely nothing when we're talking about how- during the course of evolution- we developed certain organs to carry on reproductive functions and that these organs carry on these actions in the event of reproduction. These social decisions do mean something, however, if you are addressing a teleological argument that posits that because a female reproductive tract has the capacity for pregnancy, that means it's *purpose* is to produce children.

They're arguing that the *purpose* of the female genital tract is not to produce children because its purpose is instead to pass tissue from the uterus. Neither is correct because organs have no final ends. (And they call themselves monists.)

------------------------------------------------------------------------------

As for the rest of this section...

I first find it ironic that they spent the paragraphs above arguing that we should not conceptualize a uterus in terms of its fertility and a relationship to sex, only to say that a uterus is essential to one's health in areas such as fertility and sex drive.

Now, I want to be clear that "greater risk" does not me you WILL get dementia or depression or "other serious inflictions" if you have a hysterectomy. Yes, a hysterectomy *may* increase *the risk of* cardiovascular events, certain cancers, the need for further surgery, early ovarian failure and menopause, depression, and dementia. It is important to note that most studies on this examine possible associations, causality, and hypotheses instead of causality. Part of this increase in health risks- like cardiovascular complications, memory complications, and metabolic changes- is hypothesized to have to do with the earlier onset of menopause because some of these potential long-term risks are common with the onset of menopause. Earlier onset of menopause is thought to lead to greater risk. People who start menopause earlier without a hysterectomy as well as people who start their periods later (also not something achieved through surgery), and people with a longer reproductive period also have an elevated risk in many of these same categories.

Absolutely none of these facts "prove" one sex's superiority over the other. Because there is no "superior" sex.

(Also, would the OP take a similar stance on birth control, which women also use to treat similar conditions which a hysterectomy is used to treat? Because birth control carries many of the same health risks. Is the moral here, "Don't undergo treatments if they carry health risks" or have we run into the Raymond effect? Where a "whole" [natural] state is "better" than an "altered" state? So, a hysterectomy would make someone "incomplete"/"broken" and keeping the reproductive trace makes someone "whole" and "complete." Based on the rest of the paragraph and post, I'm guess it's another iteration of Raymond's argumentum ad naturam.)

I also have no idea how any of this relates to challenging ideas of male supremacy. How does "Getting a hysterectomy could be detrimental to your health" combat ideas of male supremacy? Male dominant society is all about creating a system where people with a uterus and ovaries keep them and use them to become mothers. This point is really unrelated to combating those ideas. Does she think arguing that getting a hysterectomy could lead to health problems down the line supports some "power of the uterus" argument? Because a hysterectomy is a medical procedure designed to treat severe and emergency health conditions.

An example: My mother bled every day for months on end with cramping and bleeding so heavy, she was passing out. She asked for a hysterectomy and the first doctor asked "Are you sure. You're young and could have more babies yet." She got an ablation that didn't work. She went to a second doctor who told her that the uterus absolutely needed to come out. The only thing that ended her bleeding was the hysterectomy. When you go to the Mayo Clinic website and they list "heavy periods" as a common reason for a hysterectomy, this is what they mean. They aren't referring to the couple hours you utilize a heating pad or that time you attached a TENS unit to your back for cramping.

Another example: Doctors found an aggressive cancer in my grandmother's reproductive tract. So, she got a hysterectomy. The surgery was effective. From subsequent testing, it seems the cancer did not spread, and so my grandmother is still with us. I'm seeing her for dinner in two days.

These are reasons women get hysterectomies.

So, I don't know why the OP has seemingly taken issue with a medical procedure designed to treat severe medical conditions and problems. Does the issue maybe instead lie with someone like myself who elected to get a hysterectomy because I didn't want the potential to bear offspring? Or does the issue instead lie in someone, again, like myself who gets a hysterectomy for "gender" affirming reasons, namely, to never bleed again? In which case, let's have that conversation about bodily autonomy.

Next, your body does not "fall apart" when you remove your uterus. Do organs shift around? Yes. Does this mean you'll pee more? For a while, yes. Most complications arise not from the mere absence of a uterus, but from damage during the surgery itself. Doctors might nick something, for example. Like with all major surgeries, there is a risk of clotting afterwards. But, no, the uterus does not help hold the body together. Your body will not fall apart in its absence. Unless the OP is talking about a prolapse, which is not caused by a hysterectomy, but a cause for a hysterectomy. A prolapse certainly *will* cause such "serious complications" as fecal incontinence and bladder control issues because other pelvic organs prolapsed too. Is there a risk of prolapse after a hysterectomy? Yes. That risk is some 1%-15%, with the risk being highest in individuals whose hysterectomy was necessitated by a prolapse. In fact, hysterectomy is not a risk factor for prolapse when preoperative prolapse is taken into account.

As for that last point... "women have better cognition and memory than men and their reproductive organs are the reason for that." For a group that claims to reject the idea of "female" and "male" brains, they sure are willing to embrace it. I know that a hysterectomy uniquely impacts spatial memory in rats, but I am unsure whether this holds true for humans too. I also know that high estrogen- a hormone secreted by the ovaries- in older female mice can improve spatial memory consolidation, and that this effect can be weakened by progesterone, but I am unsure whether this holds true for humans too. I do know that in one of our closer evolutionary cousins, the estrogen steroid hormone, Estradiol, enhances "some aspects of spatial working memory in aged monkeys despite many years of estrogenic deprivation." I also know that estrogen increases the risk of breast and uterine cancers.

You can read an overview about the role of sex in memory function here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028920/. Here's a snapshot of this overview:

I am always cautious to automatically attribute such things as memory to sex difference; to claim that the reason this happens is purely biological. And the reason for that is because I know characteristics considered an inherent and immutable part of sexual dimorphism in humans are physical conditions reinforced by a patriarchal gender system. For example, a woman's weight and height will increase under systems of greater gender equity (There was a study done in Chile on height and greater gender equity and there was a study done in India on weight and gender oppression). I also know that women have a better memory than men in middle age, but decline faster, and it is believed that these difference will shrink in the future because education levels for women have been increasing over the last several decades, leading to higher cognitive reserves and less risk for dementia.

“…there are unnecessary and potentially inaccurate linkages made when binary categories of sex are exclusively drawn on to interpret sex-associated biology. The use of binary categories of sex in this way can inadvertently contribute to the normalization of culturally recognized 'typical’ biologies and undermine capacities to see variation even within these categories defined as 'normal.’ When used in this way, the categories themselves are interpreted as proxy for pathways and thus biological differences are concluded to be 'sex-based,’ as opposed to driven by some other mechanism.”

DuBois, L. Z., & Shattuck‐Heidorn, H. (2021). Challenging the binary: Gender/sex and the bio‐logics of normalcy. American Journal of Human Biology, 33(5), e23623.

One's reproductive organs are not a reason or cause for superiority over the other sex. This is literally just reproducing the exact same forces of socialization that the patriarchy does, something which these women claim to be critical of but then embrace if it means gaining power for themselves.

[teachingrounds]

"GRI Disorders" is a group of neurodevelopmental conditions due to defective ionotropic glutamate receptors. Most mutations are gain or loss of function missense mutations that arise de novo and are inherited autosomal dominantly.

[drpedi07]

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia comprises a group of autosomal recessive disorders characterized by enzyme blocks at various levels of adrenal steroid synthesis resulting in decreased production of adrenal hormones, mainly cortisol and aldosterone.

[wikiweird]

Fatal insomnia is an extremely rare genetic (and even more rarely, sporadic) disorder that results in trouble sleeping as its hallmark symptom. The problems with sleeping typically start out gradually and worsen over time. Eventually, the patient will succumb to total insomnia (agrypnia excitata) and probably lead to other symptoms like speech problems, coordination problems, and dementia. It results in death within a few months to a few years.

Fatal insomnia is a prion disease of the brain. It is usually caused by a mutation to the gene encoding protein PrPC. It has two forms: fatal familial insomnia (FFI), which is autosomal dominant, and sporadic fatal insomnia (sFI), which lacks the gene mutation. Diagnosis is suspected based on symptoms and can be supported by a sleep study, a PET scan, and genetic testing if the patient's family has a history of the disease. Similar to other prion diseases, the diagnosis can only be confirmed by a brain autopsy at post-mortem.

Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, and confusional states like that of dementia, until the patient slips into a stupor and eventually dies. The average survival time from onset of symptoms is 18 months. The first recorded case was an Italian man who died in Venice in 1765.

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