#heterozygous

[felinefractious]

🐱 Selkirk Rex [Heterozygous]

📸 Éva Salamon [Selkirk King]

🎨 Chocolate

[thelasttime]

people always think that indie music is better than pop music

i have the pop-music enjoying gene and the indie-music enjoying gene

[shadisthings]

Let’s consider an area where evolution may have shaped humans to be disassortative in partner choice. So-called human leukocyte antigen (HLA) proteins are on the surface of immune cells and are instrumental in combating infections; they also appear to play a role in odor, kin detection, and pregnancy.

It is advantageous for an immune system to have a great variety of such proteins in order to combat a large and diverse array of pathogens. It is therefore best to be heterozygous for any given HLA gene; this way, the two copies of the gene code for two different variants of the resulting protein.

If close relatives mate, it is more likely that both copies of various HLA genes in their offspring will be the same, or homozygous, which is suboptimal. Consequently, it is to an individual’s advantage to reproduce with someone who is not kin and who therefore has a greater likelihood of carrying dissimilar variants of all the HLA genes. And humans may somehow have the ability to choose partners who have different HLA genes

[tenth-sentence]

So the public biologists of the interwar years had asserted, but now the point could be substantiated by, for example, the resistance to malaria conferred by the sickle-cell gene in its heterozygous state.

"In the Name of Eugenics: Genetics and the Uses of Human Heredity" - Daniel J. Kevles

[whats-in-a-sentence]

For example, when individual maize plants with the same genetic background, but differing in ploidy level, were compared, it was found that plant height increased from haploidy to diploidy, but decreased with further increases in ploidy level (Figure 2.9A). (...) If instead, the level of homozygosity increases in plants with increasing ploidy level (through inbreeding), their vigor deceases (Figure 2.9B).

"Plant Physiology and Development" int'l 6e - Taiz, L., Zeiger, E., Møller, I.M., Murphy, A.

[jcrmhscasereports]

Sickle cell nephropathy, a complication not to be ignored, through a Moroccan case by Asmaa Biaz in Journal of Clinical Case Reports Medical Images and Health Sciences 

SUMMARY

Nephropathy is a major complication of sickle cell disease. Indeed, the kidneys are particularly sensitive organs to this disease.

We report a case of a patient with a major sickle cell syndrome; she was hospitalized in the nephrology department of Mohammed V Military Training Hospital, forend-stage renal failure. The family investigation revealed a composite S/O-Arab heterozygosity responsible for the severity of the clinical disorder.

Key words: Sickle cell nephropathy - End stage renal failure - Sickle cell major syndrome S/O-Arab.

INTRODUCTION

Sickle cell nephropathy (SCN) is a major complication of sickle cell disease. It manifest’s in various forms, including glomerulopathy, proteinuria, hematuria, and Renal tubular disorders, and frequently results in end-stage renal disease(ESRD). Hemolysis and vascular occlusion are the main factors promoting the manifestations of this disease. Dialysis and renal transplantation are the last resort for patient with SCN [1].

Through the case of a patient with a major sickle cell syndrome S/O-Arab complicated by end-stage renal failure, we will explain the pathophysiological mechanisms of this complication and emphasize the importance of biological monitoring.

CASE REPORT

The patient was 24 years old and was admitted to the nephrology department of the Mohammed V Military Training Hospital for incidental renal failure in the context of an impure nephrotic syndrome revealing sickle cell nephropathy. In his history, we retained a

follow-up since the age of 5 years in another hospital structure for a hemoglobinosis S treated by iterative transfusions with notion of acute renal failure during sickle cell crises.

The biological result showed an anemia at 7.7 g/dL, corrected serum calcium at 82 mg/L, serum phosphorus at 64 mg/L, intact parathyroid hormone 1-84 at 543 pg/L, Alkaline Phosphatase at 201 U/L.

Hemoglobin electrophoresis was ordered to this patient, but due to repeated transfusions, her electrophoretic profile remains uninterpretable (Figure 1). Therefore, hemoglobin electrophoresis (HBE) was performed in the parents as part of the hemoglobin phenotypic study. The HBE of both parents is performed on Capillarys (Sebia®) at alkaline pH followed by electrophoresis at acidic pH on Hydrasys (Sebia®) which showed a heterozygous Hb O-Arab variant in the mother (Figure 2) and a heterozygous hemoglobinosis S (A/S) in the father (Figure 3).

Figure 1: Electrophoretic profile of the patient uninterpretable due to recent transfusion

Figure 2: Electrophoretic profile of the mother showing hemoglobinosis O-Arab in the heterozygous state

Figure 3: Electrophoretic profile of the father showing hemoglobinosis S in the heterozygous state

Referring to the phenotypic study of Hb performed in the parents, it is concluded that the patient has a composite heterozygosity S/O-Arab explaining the severity of the renal manifestations.

The evolution was marked by the absence of improvement of her renal function and the aggravation of the uremic syndrome motivating her setting in peritoneal dialysis. The patient was treated with erythropoietin ARANESP 30µg/ per 2 weeks with a blood transfusion of 2 packed red blood cells on average every two months.

The patient died at the age of 26 years before benefiting from either a hemoglobin genotyping study or a renal transplant.

DISCUSSION

Sickle cell disease is the most common hereditary hemoglobinopathy in the world. An estimated 300,000 children are born with this disease each year, three quarters of whom are born in sub-Saharan Africa [2]. It is characterized by extreme variability in terms of clinical manifestations, the most serious of which are renal manifestations.

The association S/O Arab is responsible for a major sickle cell syndrome, as in the case of our patient. Indeed, Hb O Arab stabilizes the intracellular polymerization of Hb S and leads to an irreversible sickle cell disease of red blood cells, thus expressing by a more severe clinical disorder. The clinical and biological manifestation of this association is similar to homozygous sickle cell disease and the association Hb S / Hb D Punjab. The onset is usually early, in infancy, and is marked by the classic triad of chronic hemolysis: anemia, jaundice and splenomegaly. Anemia is usually moderate outside of hemolytic attacks (Hb = 7 - 10 g/dL). The evolution is often marked by sickle cell complications. Osteoarticular complications are the most frequent, such as vaso-occlusive crises, septic arthritis and osteoporosis. Pneumonia, leg ulcers and vesicular lithiasis are also reported [3].

Sickle cell nephropathy is a major complication of sickle cell disease. The kidneys are particularly sensitive organs to the disease. Sickle cell disease substantially alters the structure and function of the kidneys and is the cause of several renal diseases and syndromes. Renal damage is more severe in SS homozygous patients than in other major sickle cell syndromes [4]. Approximately 5-18% of patients have SCN, thus increasing the risk of morbidity and mortality of the disease [5].

A number of studies have focused on this pathology, its evolution includes several stages; it starts with hyperfiltration, then the occurrence of microalbuminuria, then macroalbuminuria and finally the progression to renal failure. The prevalence of these complications increases with the age of the patients but can also be seen from a young age.

Two models have been proposed to explain the pathophysiology of SCN. Becker et al. showed that prostaglandin release following ischemic injury causes an increase in glomerular filtration rate (GFR). This increase leads to glomerular injury and eventually manifests as proteinuria and glomerulosclerosis [6]. Alternatively, Nath and Katusic [7] classified the manifestations of SCN into two different phenotypes: the hemolysis-endothelial dysfunction phenotype and the viscosity-vaso-occlusive phenotype. The hemolysis-endothelial dysfunction phenotype affects the renal cortex and leads to hyperfiltration and glomerulopathy; heme released due to intravascular hemolysis predisposes to proteinuria through its accumulation on the glomerular filtration barrier, which disrupts membrane selectivity by exerting cytotoxic effects on podocytes and endothelial cells [8]. On the other hand, the viscosity-vaso-occlusive phenotype is responsible for hematuria, papillary necrosis, and tubular acidosis [9].

Microalbuminuria, reflecting the early stages of renal damage, should be routinely sought in the follow-up assessment in this category of patients.

Decreased GFR, which suggests loss of kidney function, occurs with the progression of sickle cell disease and may be a sign of uncontrolled disease. Sickle cell patients have a higher risk of developing chronic kidney disease compared to the general population.

Specific treatment with an angiotensin-converting enzyme inhibitor or an angiotensin II

receptor antagonist should be considered in these patients in order to slow the progression of the renal disease. The prevention of microthrombosis and thus of renal damage requires the maintenance of a hemoglobin A level of more than 50% by regular blood transfusion as soon as sickle cell disease is diagnosed. The role of hydroxyurea in the prevention and/or treatment of renal function abnormalities in sickle cell disease remains to be studied [10].

CONCLUSION

Sickle cell nephropathy is a major complication of sickle cell disease. It must be systematically and early sought in all sickle cell patients to reduce the risk of morbidity and mortality of this disease.

The development of new biomarkers has become increasingly essential for the early detection of sickle cell disease in order to improve the survival of patients with sickle cell disease.

Declaration of interest:

The authors declare no conflict of interest.

For more information: https://jmedcasereportsimages.org/about-us/

For more submission : https://jmedcasereportsimages.org/

[cryptid-moone]

*Kicks down door*

Alright meet the Robinsons fandom, check this shit out

Both Cornelius and Franny have freckles in their youth, and (presumably in Cornelius’s case) as adults. By punnet square logic, any offspring they have should also have freckles 🤔

Right. So where are they 😭

Disney where are his freckles, you can’t give me two fun characters with freckles and then not give their kid some

I legit made a punnet square for this man

It’s like 20% bullshit but the rest is real

Btw all the framagucci’s have thin waists and I think that’s actually great (except for Gaston but he stands fruity so he counts too)

[clodiuspulcher]

today im thinking about malaria in ancient rome.

about the fact that P. falciparum (the most dangerous kind of malaria) was likely endemic at least from the 2nd century BC onward that Galen said semitertian fevers (P. falciparum infections) were more common in Rome than anywhere else in the Roman Empire that the most severe manifestations of P. falciparum (quotidian fevers + cerebral malaria) were most common in babies and young children, an epidemiological observation that indicates the transmission rate of P. falciparum was extremely high in Rome that Quintus Serenus said there was no Latin word for semitertian fevers (they used a transliteration of the Greek, 'hemitritaeos') because "no one, i think, could have named it in our language and mothers would not have wanted to"

[amber-tortoiseshell]

Do you have any tips on telling the difference between different varieties of tabby on long-coated cats? Like 95% of the examples on google are shorthair tabbies.

I can't say anything in good conscience, sorry. If it's a cat around you and not just a picture, try to get a look in the sun, that can help to see the patterns better.

Blotched is usually (but not always) recognisable of the bigger dark patches, but i have a very hard time differentiating between mackerel and spotted tabbies, the pattern too easily gets too blurred to say anything confidently. Best i think is, um, checking them when they're young, and the pattern is more visible. Not always possible, yeah.

This cat is spotted, by the way.

[amonrudh]

open to anyone not just mutuals

[felinefractious]

🐱 Selkirk Rex [Heterozygous]

📸 Catherine Rutowska [Hodowla Kociaczek*PL]

🎨 Black Silver Ticked Tabby

[agent371]

The downsides of having a rare disability: I got my genetics test back with confirmed the exact thing wrong with me but I have no clue what any of it means and Google is no help what so ever.

[atarahderek]

A Call to Action for MTHFR

My fellow Americans, the recent SCOTUS repeal of the Chevron doctrine has given us power to bring a class action lawsuit against the FDA to remove requirements to enrich non-organic wheat flour produced domestically. As someone with ADHD and a survivor of thyroid cancer, and who has racked up numerous chiropractic bills on "safe" B supplements, I can state categorically that I was indeed injured by enriched wheat products. The addition of these harmful synthetic supplements to wheat flour has forced me to seek more expensive alternatives, which has injured my budget in the current economy. I would like to start the process to bring a class action suit against the FDA, forcing them to remove what are, for at least 40% of Americans (and almost certainly more), toxins in our flour. But this is not something I can do alone. Especially with my ADHD. I need your help. Can we band together to start this process and save future generations from suffering as we have?

[kedreeva]

Okay so, I don't think I've spoken of the saga here yet but! Gather round. I shall tell you a long story about the bird I just acquired and why she is VERY IMPORTANT.

At the beginning of last fall, I started looking into quail genetics a little more, because I got tired of not being able to sex my Celadon quail by their feathers. Originally I thought I could kill 2 birds (ok maybe more) with 1 stone and order nice jumbo wild type (which MANY places advertised as wild type jumbo) hatching eggs, and this would help me put some size on the Celadons (jumbo) while also making them feather sexable (wild type). Perfect!

But then I come to find out that pretty much all jumbo lines are jumbo BROWNS, as in they all have the sex linked brown (SLB) gene. So, I was a little confused and a LOT annoyed because I wanted to work specifically with the wild type color/pattern. No mutations just straight, plain wild type.

And EVERYWHERE I looked - major production hatcheries, private breeders through websites, Facebook groups, local swaps, craigslist, e v e r y w h e r e -

People ONLY had SLB.

This spring I came across a video showing about the differences between SLB and wild type and I figured if the person who made it can tell, maybe she will have some. So I looked her up (not in a stalker way, her farm name was stamped on the video and took me to the website), and what luck! She was in Michigan! Upper Michigan, so still a hike, but not California, y'know?

So I shot her an email and explained that I was looking for WT and that her site said she bred them and that people could do local pickup. She responded yeah she's totally got a bunch! And I said great, I'm also in Michigan, albeit far away, but I don't mind driving 7+ hours each way, because I really need actual, trusted WT for sure birds for my celadon project, can I come pick them up?

Cue the most frankly bizarre email chain in my short life. As soon as I mentioned that I was going to drive, or perhaps that I had a genetics plan in place, she got super sketchy and started saying how she hadn't really paid as close attention to SLB vs. WT, that it mattered less than she thought it would when she started, that I shouldn't focus on that either, and also that "fawn celadon is practically unheard of" in the hobby and "you should focus on a clean Tibetan because it's hard to find without roux in it) implying that I should concentrate on those things instead. And concluded by telling me if I really want WT, to contact this other person (why happens to be someone I can't stand). It all sounded VERY much like she didn't have wild type males, after all, and had thought I didn't know the difference so it wouldn't actually matter. But, it does. It actually matters a lot to me.

So I messaged back to say, well, I don't want to do any of those things, I specifically want to work with this set of genetics and you said you have them so I shouldn't have to go to anyone else??

And then she went radio silent for a week. I kind of figured I'd called a bluff, and that she was one of dozens of people I'd contacted who'd said they had WT only to find out they had SLB. I get that it's difficult to see the difference, but this particular person was the president of the American Coturnix Breeders Association or whatever (found out it's actually just a club formed by her and her friends a year ago, so not as impressive as it sounds, considering they don't actually DO anything- no putting on shows, no newsletters, no certifications, no public breeder directory, no finished SOP, nada), so I kind of expected she should know what she's talking about, if anyone does.

Eventually, after a week, she responded that she had been judging at a county fair, but she had a few heterozygous males (WT het roux, which is fine) and she could set a hatch for me for more if I wanted to come at the end of the month, but she's in WI now, not MI. I said sure, since where she was in WI was actually closer than where she'd been in the UP, and we arranged date/time.

The day of, my neighbor friend, Jude, comes with me for company/keeping me awake through the 15 hours driving round trip. It's a pleasant enough drive. We arrived at a cutesy little house on the edge of town that looks like anyone's house in a neighborhood, with a spacious lawn. The person meets us and takes me around the side of the house to a 6x6x1.5 or so chicken tractor, where she's got some male coturnix. She pulls the available males for me to look through and... fam, they ALL looked SLB, to me.

Now, she swore to me up and down that they couldn't be anything except WT het for roux, because of the way she is breeding them. But I've put these birds next to my SLB males and if I didn't have my males banded, I would not ever have told the difference between them. I still picked up 4 of them, because I will give it a go- worst case, I can produce plain Roux hens/plain Roux males for use in breeding later, best case they do actually produce WT hens and they just LOOK SLB and I have to figure out what the differences are. I don't want to leave without seeing her hens, which she has told me are all WT (which is why the males HAVE to be het for it), and she takes me back. Now the hens, the hens are easy to see the difference. White bellies first of all, but the chest feathers are also wildly different! The shafts are white, the dot around the shaft is dark, ringed in red, ringed in white. On an SLB, the shafts aren't white, it's just a black dot surrounded in a red feather, and the belly is all red/buff/cream, not white.

This is what an SLB hen looks like:

So I take a nice long look to memorize the color, and thank her for showing me and meeting, and we head back home.

I do fecals when I get home because all of the males are VERY thin, no meat on them at all, and since she said she'd been feeding Purina (garbage for fowl feeds), I figured that was why, but no- HUGE coccidia loads in all of them. So I treated them and got them on a better feed. They immediately began putting on meat, and they're find now.

The rest of this summer, I have spent going to local bird swaps and inspecting all of the quail I could find, hoping to find one (1) actual wild-type phenotype bird. Hundreds and hundreds of birds, I have pawed through them all, being super obnoxious to the owners I'm sure, holding and inspecting males. I found ONE suspected WT male (and this is a HUGE "suspected," he could very well be SLB with low red expression). I compared him when I got home and I'm doubting myself still, so I don't know if I will ever actually pair him with the SLB hens or if I'll just wait til I have a roux set.

Regardless, it's been a dry season for getting what I want. It's been a dry YEAR. Yesterday was another swap and more hundreds of quail and me pawing through all of them.

Until.

My eyes landed upon.... her.

If you've only lived in an area that has american crows and not ravens, you find yourself wondering if crows are ravens. You see a big crow and you think wow! maybe that is a raven! It could be a crow, but it's seems bigger so maybe it's a raven. But, if you take a trip to a place with ravens, and you see one for the first time, you realize that there is no question, when you see a raven. When you see a raven in person, there's no question and not only is there no question, you wonder how you could ever have thought a crow was a raven. It's laughable, while looking at the raven.

That's how finding this bird felt. I'd been picking up every SLB hen and going maybe this is actually WT? It could be SLB but maybe it's WT? But the second I laid eyes on her in the middle of a pack of SLB with some mixed colors, I knew I was looking at WT hen, and I can't imagine how I ever thought maybe an SLB hen was WT.

Here's a better photo of her chest and belly (she's beat UP from her previous home, the back of her head and most of her rump are plucked clean from males). You can see the white shafts and the white belly.

And some other pics of her, showing the grey-brown on her side and back- VERY different than the SLB hens

I can't express how stoked I am about this bird. This is the first time after a LOT of effort and time, that I have felt confident I am holding the bird I want.

She's also the indicator that I have a LOT of work ahead of me.

My end goal is to have birds that look like her, weigh 12-14oz, and lay large, blue eggs. I have birds that lay large, blue eggs, I have birds that weigh 12-14oz live weigh, and now I have at least 1 bird that looks like her, which means I can make more that look like her. The first step is cleaning the color mutations out of the celadon line without losing the celadon eggs. This is going to be a bit of a nightmare, BUT, I have a friend helping me out with getting a few celadons that are either WT or SLB (I'm guessing SLB all things considered) to start the work with. I will work over the winter to get a few more actual WT birds here, and to start crossing out the celadons with the SLB jumbos to clean out the other feather color mutations. Once I'm down to just SLB and celadon for mutations, I can clean the SLB out with the WT and roux lines.

This project will likely take me a good 2 years, maybe 3, to complete and then test breed to ensure I haven't lost the celadon gene and I don't have any hidden recessives lingering about. But just having the fucking materials to do it all on hand now is a huge step forward from where I was when I decided to start the project.

[cryptidclaw]

Star Firesight!

Bonus! Healer/Second Firesight:

And Outsider/Apprentice Rusty/Fire:

Design Notes:

I redesigned him again despite saying I would stop doing that... Prev design and old bio here.

He still has a lot of the same features as my previous design, i mostly just changed his pattern and coloring! I wanted him to be a rustier color!

I also changed his cheek fluff to be round, mostly just for an interesting face shape! his cheek fluff hangs a little more flat when he's older just to give him a more matured look (hes been thru some shit, his cheeks hath deflated)

Character Bio:

Star Firesight

(Fireheart/star)

Bisexual & Polyamorous; Trans Tom; he/him

Age as of 1st arc's beginning: 7 moons; 11 Hyrs

Age as of 1st arc's end: 2 cycles, 5 moons; ~26 Hyrs

Title meaning: -sight = this cat can spot things that others cannot; a cat with a close connection to the Stars; this healer receives many signs from the Stars; the healer may also be very good at spotting illnesses or injuries.

Outsider -> Healer -> Second -> Leader of Thunder Order

Mentor: Redtail (died) -> Spottedleaf

Mother: Nutmeg

Father: Jake

Sibling: Sapheart (Princess)

Half Siblings: Socks; Ruby: Tinyclaw

Mates: Sandstorm; Shriketail

Kits: Squirrelflight (sire: Sand); Leafpool (sire: Shrike); Foxleap (sire: Sand); Icecloud (sire: Shrike)

Grandkits: Star Hollyleaf; Falconstrike; Jaywing; Alderheart; Sparkfire

Other notable kin: Cloudtail (nephew); Snowshoe (nephew); Mistletoe (niece); Spiderleg (nephew); Shrew (nephew)

Notes:

Firesight has chronic pain (and mobility issues later in life):

Fire has the Scottish Fold breed's mutation which effects cartilage in the body, this causes his ears to fold, but it also causes chronic joint pain and can progress into swollen and inflexible joints.

For Fire, he is has the heterozygous version of this mutation, which means that his disability progresses more slowly, as a young cat he does experience some joint pain, with some days being worse than others. He is able to medicate with his own chronic pain herbal mix he created as a Healer. However as Fire grows older his joints will worsen, and by the time of his old age he will be unable to jump and some days is unable to walk.

He is able to still use his medication to aid him and is able to lead a happy life, but he is disabled and I didnt want to leave that out of his character! It's important to have disability rep (and spread awareness of the issues with the Scottish Fold breed) and I hope I serve him justice!

Character Summary:

In Progress (to be added later)

...

[Image 1 ID: a digital drawing of Star Firesight, an AU version of Firestar from Warrior Cats. He is standing with his left side showing and has a proud and happy expression with a smile. He is a short, chubby and round shaped rusty orange and red tabby tom with small folded ears and green eyes. his chest, underbelly and paws are all a lighter shade of orange, and he has a red stripe down his back as well as a single red swoop shaped stripe on his side. He has red to orange striping on his face and red freckles on his cheeks. His right ear is brownish-black, he also has a small black spot above his nose and a black stripe on his back. He has a white flame shaped spot on his chest, a white muzzle, white paws and a white tail tip. He wears yellow flowers and green leaves in his pelt and a simple crown rests on his forehead made up of a diamond shaped red stone and a small teardrop shaped white stone below it./End ID]

[Image 2 ID: a digital drawing of Firesight, an AU version of Fireheart from Warrior Cats. this drawing is almost the exact same as the first image, but in this he has no crown./End ID]

[Image 3 ID: a digital drawing of Fire, an AU version of Firepaw from Warrior Cats. this drawing is almost the exact same as the first image, but in this he has no crown, or flowers and leaves adorning his pelt. his face also seems younger and he has a brighter happy expression on his face with his mouth open in a smile like he is talking./End ID]