#congenital disease

[bpod-bpod]

Blindness Insight

A study in the model organism the African clawed frog (Xenopus laevis) reveals the details of mechanisms underlying the human inherited retinal degenerative disease Leber congenital amaurosis.

Read the published research article here

Image from work by Theresa Fresquez and colleagues

Department of Ophthalmology and Visual Sciences, University of New Mexico, Albuquerque, NM, USA

Image contributed by the authors under a Creative Commons Attribution 4.0 International (CC BY 4.0) licence

Published in Journal of Cell Science, January 2025

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[whats-in-a-sentence]

The pestilence of families

Is not congenital disease

But feet that follow where the foot

That has proceeded them was put.

"Weaveworld" - Clive Barker

[heian-era-housewife]

Blind Date

Synopsis | Geto sets Gojo up on a blind date. Hilarity ensues.

Content | Mild cursing, mentions of sex, PG 13 at most.

Word Count | 1,002

Gojo lay back on one of Jujutsu High's frumpy, moth-eaten dorm chairs. Long legs stretched out in front of him, arms draped carelessly over the sides with palms facing up, head lolled back and mouth slightly open. A sigh of utter boredom gurgled deep in his throat as he stared unblinkingly at the ceiling.

Classes were on a break. Students were visiting families or using the time to study and train independently. He had not been called on a mission in three whole days.

Suddenly the door to the teachers' dormitory slid open with flare as Geto strut into the room.

"You can thank me now!" He declared with a pompous smile.

"For what?" Gojo said without moving an inch, eyes still fixed on the ceiling through his blindfold.

"I've set you up on a date tonight," replied Geto with an overwhelming smugness.

"IS SHE HOT?!" Gojo snapped to attention, bolt upright, eager hands gripping his knees in excitement.

"Guess you'll have to see for yourself. Six o'clock. The sushi place in Ginza. Don't be late," Geto said with a wink and a note of suspicious mocking.

*********************************************

5:55 p.m. - Gojo waited anxiously outside the restaurant, unable to decide how far down he should unzip his jacket. He had spent the afternoon showering, shaving, and changing outfits and glasses again and again before settling back on his original black jacket, black pants, and classic blindfold. His boxers he'd been sure to change though, just in case.

***

"Show me what she looks like!" He had whined at Geto over and over. "What's her name? Where'd you meet her? What did you tell her about me?" He pried.

Geto refused to budge. "You'll find out soon enough," he chided at Gojo's pleading questions.

"How will I know who to look for if you won't tell me?" He pouted.

"Oh don't worry," teased Geto. "She'll find you."

***

Awaiting his prize, Gojo looked around again, still fidgeting with his zipper. A soft sudden tap on his arm followed by a sweet, feminine voice caused him to jump slightly as he turned to see the girl Geto had selected.

She was cute, wearing a simple, but flattering dress with just enough skin to pique his interest without drawing too much attention from other wandering eyes. He made a mental note to praise Geto later for his taste in women.

"Sorry to startle you! You must be Gojo!" She said with a soft smile while she introduced herself.

"Please, call me Satoru," Gojo instisted, offering a long-fingered hand to guide her through the doorway of the sushi house.

Rather than take it, she wrapped herself around his arm and began walking confidently into the restaurant, almost pulling him along with her.

Oh! Gojo thought to himself. I am definitely okay with this.

As they settled in the booth, exchanging small talk, Gojo's confidence grew as his date's rather forward behavior continued. Admitedly, a bit surprised, he couldn't help but sit back sporting a goofy smile as she insisted on feeding him, pouring his drinks, guiding his hands around the table, and even praising him on the way he "intuitively" used his chopsticks on the rare occasions she allowed him to feed himself.

Okay, so that last one was kind of weird. But who cares? He thought. I am definitely getting laid tonight.

While the chatter continued, he didn’t delve much into his personal life. Nor did they talk much about hers. She mostly just peppered him with compliments and he attempted to do the same.

Still, he couldn't help feel that something was slightly off as her accolades dipped into the increasingly peculiar.

"Geto told me all about your noble work."

"Oh? Did he now?"

"Your students must love you!"

"Well, I'd like to think so."

"Your hearing must be impeccable."

"Uhh...sure? I guess...?"

When the check arrived, Gojo reached out instinctively to take it, surprised when his hand met hers, also reaching for the bill.

"Oops...sorr-"

"Amazing!" She exclaimed, causing Gojo to retract his hand in startled confusion. "You knew exactly where it was!" She cried, looking up at him in awe.

"I-" Gojo stammmered, working hard to make sense of what she was implying.

With a sudden flush of her cheeks, she gushed, "I hope you don't mind me saying, but if Geto hadn't told me, I would have never known you were blind!"

*********************************************

The dormitory door slammed open, then shut with a dangerous shutter as Gojo stormed inside.

"You. Utter. ASSWIPE!" Gojo shouted into the darkened dorm.

"How was your blind date?" Geto called from a safe distance.

"Hah. FREAKING. HAH! You waited in here all damn night just to say that, didn’t you?!" He growled.

Geto wheezed, doubled over in laughter as he relished the deranged look in Gojo's glowing eyes.

"Oh you think you're so hilarious. You're lucky I don't hollow purple the living shit out of you! Did you REALLY tell her this was a school for the blind?!"

Geto gasped for air, hugging the wall and pounding it with his fist as he reveled in his childish prank.

"Well joke's on YOU buddy! While you were waiting here yuckin' it up to yourself all night, I was getting mad laid at her place. Turns out chicks dig the visually impaired!"

Geto wiped a tear from his eye as he straightened up and looked Gojo dead in his dangerous blue gaze. "You suck at lying. She called a cab and you walked here cursing my name with every step. Don't deny it," He taunted.

"I-"

"Hmm?"

"I mean I-"

"Hmmmmm?"

"Screw you! At least I got a hot chick to feed me sushi."

Geto burst back into raucus laughter as his friend skulked down the hall.

"I'm going to bed," Gojo huffed.

"Need me to walk you there?" Geto called after him.

I'll get him back for that one, Gojo scowled as he threw himself down on his lamentably empty bed. One thing's for sure, though. No more blind dates.

[chialattea]

Nami WIP + some chibi doodles heheeee

[illholy]

Me witnessing myself struggle on whether or not i delete all of my drafts & inbox ( i'm sentimental ) & start a new...

[disabled-models]

Mia Castro, a model with Hashimoto’s Disease, Hypermobile Ehlers-Danlos Syndrome (hEDS), and Tarsal Coalition.

[almond-tofu-chan]

round 7 prediction: luka has a heart attack and fucking dies

[literalcyborg]

Happy disability pride month! I climbed a fucking mountain a few days ago!!!

(To be fair, it was technically more like a really big hill with stairs going up to the top, but the locals call it a mountain and it was hundreds of stairs, so I’m letting myself be proud.)

I did it after a lot of reluctance from my mom too. She was worried I’d overwork myself and have a heat attack or something, and while she’s usually great about listening to me when it come to my body and my limits, she just wasn’t letting it go no matter how many times I assured her I’d be fine.

I know how to accommodate myself. I went with my brother so I’d have someone there if I needed help, my phone was fully charged, I brought plenty of water and Tylenol, and I took breaks when I felt that I needed to, and I was fine!

This is all to say that it makes sense for an abled person to be worried about their disabled loved ones doing strenuous activities, but disabled people know their own limits. I’ve been living in my fucked up body for almost two decades, I know how to handle it by now.

Listen to disabled people. Our boundaries and limits are ours to define.

And again, congratulations to me for climbing a fucking mountain :D

[lakeofbl00d]

I absolutely adore disability awareness art and any disabled related art... I just wish there was more art for heart disease/congenital heart disease too. Sometimes makes me feel even more alone when I can't find anything.

All I can do is find the spoons to make some eventually [and when my back isn't hurting], and continue to draw myself with my open heart surgery scar.

[myocardiali]

finding out you have one or multiple congenital conditions is such a weird feeling because you go from either thinking it's a universal experience or just some quirky party trick to being like oh.... i literally just developed Wrong and this could genuinely become an issue.... oh noooo

[hurricanehiatus]

Being chronically ill sucks ass.

[bpod-bpod]

Long Stretch

Mutations within the DNA code that cause abnormal stretches of an amino acid – for example alanine – are associated with a number of inherited diseases. This study reveals how polyalanine stretches have deleterious molecular effects

Read the published research paper here

Image from work by Fatima Amer-Sarsour and Daniel Falik, and colleagues

Department of Cell and Developmental Biology, Faculty of Medicine, Tel Aviv University; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel

Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)

Published in The EMBO Journal, January 2024

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[jcsmicasereports]

Successful Jatene procedure for great arteries transposition correction in newborn with SARSCoV-2 infection by Guillermo Careaga-Reyna MD in Journal of Clinical Case Reports Medical Images and Health Sciences

Abstract

Pandemic of COVID-19 represents a challenge for treatment of patients with congenital herat disease. We present a newborn with great vessels transposition and positive SARS-CoV-2 PCR test. The patient was submitted to a successful surgical treatment with corrective Jatene procedure, requiring opened chest wall during 72 h of postoperative period and 43 days of total in-hospital lenght of stay.

KEY-WORDS: COVID-19, SARS-CoV-2, great vessel transposition, Jatene procedure, congenital heart disease.

Introduction

Coronaviruses are single stranded ribonucleic acid viruses with a diameter of 60–140 nm and a high rate of genetic mutations and recombinations, rendering them capable of escaping from the immune system and causing novel infections (1). In less than six months, the coronavirus disease 2019 (COVID-19) pandemic has swiftly spread from one city in China to over 190 countries worldwide (2-4). Neonatal infections with SARS-CoV-2 have been described although robust data on vertical transmission are lacking. In most instances where neonatal infection has been reported, close contact with infected mother or caregiver is postulated to have occurred (4).

In newborns, the case is regarded as positive for infection if any of the following conditions occurs, (1): positive PCR for SARS-CoV-2 in respiratory tract or blood samples, high homology of viral gene sequences of the samples from the respiratory tract or blood to the COVID-19 sequence.

We present a case of a newborn with great vessel transposition and SARS-CoV-2 infection.

Case Report

We present a new born with great arteries transposition associated to aquired SARS-COV-2 infection.

The patient was refrerred to our hospital, with a positive SARS-CoV-2 test, with mechanical ventilatory support in order to confirm a complex congenital heart disease.

The diagnosis was established via echocardiographic evaluation which showed normal venous return, concordance atrio-ventricular and ventriculo-arterial discordance. It was concluded: great arteries transposition, patent ductus arteriosus and permeability of foramen oval.

The patient was recovered from a septic shock with no evidence of systemic inflammatory response requires inotropic support and after stabilization in neonatal intensive care unit, at 10 day in-hospital stay,  was submitted to an open heart surgery consisted in anatomic correction with Jatene procedure. The aortic cross-clamping time was 119 min, with cardiopulmonary bypass (CPB) of 181 min. It was decided to maintain in postoperative period opened chest wall, and after 72 the chest wall closure was succesfully realized with favorable posoperative evolution. After 32 days of postoperative, the patient was discharged from hospital. Actually, two years after surgery, the patient is doing well, only with mild pulmonary stenosis without hemodinamic or clinical repercusion.

Discussion

For infants born to COVID positive mothers should be reasonable to separate him from the mother if will need cardiac surgery to try avoid post-natal infection.

In fact, there is minimal evidence of placental vertical transmisión. In this case, the patient has a positive test for SARS-CoV-2 infection and evolved with septic shock in the preoperative period.

It may also be reasonable to do serial testing on the infant, but there is no consensus on the correct timing surgery should be scheduled with advice from a multidisciplinary team of experts including cardiac medical, cardiac surgical, and infectious diseases as indicated. After evaluation of the clinical conditions for a heart team in our hospital, it was decided to realize the surgical procedure in order to avoid progression of heart damage and irreversible heart failure.

However we must remember that, if prudent, surgery should be delayed until the patient’s symptoms have improved and/or testing has been repeated (often after 14 days) and is negative (5).

On the other side, in older patients the inflammatory response due to SARS-CoV-2 infection has been a frequent complication.

In our patient, probably due to the age, it was no presented even with the septic shock o posteriorly associated to the use of CPB during the surgical procedure

It was concluded taht COVID-19 may affect all age patients. However with cautious evaluation and treatment of associated disease as in our case, the patient improves survival, despite severity of viral illness, and during this pandemic period, patients with active COVID-19, at neonatal period we have no treated any other.

[pengumi12]

Congenital Heart Defect Awareness

[wholemleko]

Out here 2 vent again sry

[jamie-is-out-of-ideas]

shout out to all my fellow folks with congenital heart disease/condition who has to go to those anual appointments at the cardiologist (i had an enlarged right atrium and a funky looking tricuspid valve)