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  • 🩺 A dream drug — with side effects

🩺 A dream drug — with side effects

PLUS: CRISPR in action & medical AI’s new report card

Good morning!

Are genetic diseases a thing of the past? This week, we highlight a groundbreaking story about how doctors created a gene editing treatment for a sick baby!😔 

Today’s issue takes 4 minutes to read. Only got one? Here’s what to know:

  • Amiloride matched spironolactone for resistant hypertension.

  • Oveporexton improved narcolepsy symptoms, but caused insomnia.

  • Vitamin D linked to lower risk of neurodevelopmental disorders.

  • Gene editing helped infant with rare metabolic condition.

  • Medical AI tool HealthBench evaluates GPT with real cases.

  • Diet quality tied to timing of first periods.

Let’s get into it.

Staying #Up2Date 🚨

1: Pressure Tested: Amiloride for Resistant Hypertension

This RCT explored amiloride as a potential alternative to spironolactone for treating resistant hypertension in 118 patients. After 12 weeks, amiloride lowered SBP by 13.6 mmHg (SD, 8.5) and showed equal efficacy to spironolactone, supporting its use as a viable treatment option. 

2: Dream Drug for Narcolepsy?

This phase-2 study evaluated daily oveporexton for 90 patients with narcolepsy type 1. After 8 weeks, oveporexton significantly improved wakefulness, reduced sleepiness, and reduced cataplexy compared to placebo. However, side effects were notable: 48% reported insomnia and 33% reported urinary urgency. 

3: A Dose of Sunshine! 

This Danish population study of over 80K individuals examined links between vitamin D status and mental health outcomes. Higher 25 hydroxyvitamin D levels were associated with lower risks of schizophrenia (HR 0.82, 95% CI 0.78–0.86), ADHD (HR 0.89, 95% CI 0.86–0.92), and ASD (HR 0.93, 95% CI 0.90–0.96). These findings suggest that optimization of neonatal vitamin D could help lower the incidence of neurodevelopmental disorders.

A Rare Win 🧬

Scientists' latest breakthrough could change how we think about genetic diseases

What happened: A baby born with a rare and deadly genetic disease is given another chance thanks to an experimental gene editing treatment made just for him.

Why it matters: The patient had a CPS1 deficiency, a tiny error in his genetic code that affects the body’s ability to break down protein and remove nitrogen waste. It can cause dangerously high ammonia levels and is fatal in about half of all diagnosed infants.

Doctors at the Philadelphia Children’s Hospital spent 6 months designing a treatment to correct the faulty gene. Using CRISPR, they flipped the mutated DNA base back to its correct form, reducing the risk of unwanted genetic changes. The therapy was delivered via IV using lipid nanoparticles — tiny fatty droplets absorbed by liver cells. After 2 follow-up doses, the patient began eating normally, recovering from illnesses more quickly and needing less medication. 

But: It’s still early — doctors say it could take years of follow-up to know if the results hold.

Researchers hope to learn from this case and eventually apply the knowledge to other rare diseases. While gene therapy can be expensive, they noted the cost wasn’t far off from an average liver transplant — and future therapies could become cheaper as methods become more efficient. 

Bottom line: Personalized medicine just might be the future — and breakthroughs like this remind us how powerful science can be. 

Hot Off The Press

1: 🤖 OpenAI’s new tool, HealthBench, puts medical AI to the test — literally. It uses 5,000 synthetic doctor-patient conversations, each graded by physicians using custom rubrics, to see how well models like GPT can handle real clinical questions. The goal: figure out not just what AI gets right, but where it might quietly fail.

2: 🥗 New research links diet quality to the timing of first periods. In a long-term US study, girls who ate healthier diets hit menarche a bit later — while those with more inflammatory diets hit it earlier. The link held even after adjusting for BMI and height, hinting that what kids eat might play a bigger role in puberty than we thought.

3: 👃 A new study in mice shows that a nasal COVID booster — with no added immune stimulants — can still trigger a strong local immune response. The secret? Prior vaccination seems to "prep" the immune system, letting the nasal dose recruit memory cells to the lungs. It’s early, but researchers say it could pave the way for safer, most effective intranasal vaccines.

4: 😔 Former President Joe Biden has been diagnosed with stage 4 prostate cancer. The 46th President released a statement last week saying his case is aggressive with a Gleason score of 9. He said he’s been consulting with his doctors for the best course of treatment.

Notable Numbers 🔢

47: the number of seconds it takes before we get distracted. A new study has found that humans’ attention spans have decreased from 2.5 minutes in 2004. There are ways to strengthen your focus, including the Pomodoro technique, in which you set a timer for 25-30 minutes to get work done before taking a 5-minute break.

1K+: the number of people who might’ve been exposed to measles at Shakira’s latest concert in New Jersey. Health experts say an attendee tested positive for the disease, but they’re unsure if they’re vaccinated. If not, thousands could be at risk as symptoms won’t show until June 6th. Until then, officials are asking folks to contact their healthcare providers ahead of time if they’re feeling sick.

27%: how many migraine patients avoided fatigue by taking ubrogepant before the headache hit, compared to 17% on placebo. Researchers say it’s the first drug shown to ease non-pain symptoms in the early phase of a migraine, including dizziness, neck pain, and light sensitivity.

Picks

😂Laugh: at this meme about a hard day's work:

🎧 Listen: to this newest episode of the Funny Medicine Podcast. This week, the hosts dive into everyone’s favorite topic: TikTok Health Trends.

🤑Save: on GoPros! Take advantage of their 10% off sale for medical providers, nurses, and first responders. Use this link to redeem.

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That’s all for this issue.

Cheers,

The Postcall team.