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Prenatal test accidentally picks up cancer in 50% of those with wonky results

By: Beth Mole
5 December 2024 at 04:18

In 2013, researchers reported an eye-opening case of a healthy pregnant woman with a puzzling prenatal test result. A routine genetic screen using cell-free DNAβ€”a highly accurate blood testβ€”suggested her fetus had an extra copy of chromosome 13 (Patau syndrome) and only one copy of chromosome 18. These results are devastating; both conditions can cause severe abnormalities. Those with Patau syndrome often only survive a few days or weeks after birth. But, when doctors looked at scans and did additional pregnancy testing, all they found was a healthy fetus developing normally. The woman carried on with her uncomplicated pregnancy and gave birth to a healthy baby.

The alarming genetic results may have been written off as a freak testing flub. But soon after giving birth, the otherwise healthy 37-year-old mother of two reported severe pelvic pain. Imaging revealed what looked like multiple bone tumors, and she was subsequently diagnosed with metastatic small cell carcinoma of vaginal origin. Tragically, she has since died.

Testing of one of her tumors found that the cancerous cells had an increased number of chromosome 13 relative to chromosome 18. Her prenatal test had picked up her deadly cancer.

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Β© Getty | NataliaDeriabina

Man suffers chemical burn that lasted months after squeezing limes

By: Beth Mole
27 November 2024 at 14:00

If Margaritaville were a real place, it should definitely keep a few dermatologists on hand.

In a case of an oft-overlooked food preparation risk, a 40-year-old man showed up to an allergy clinic in Texas with a severe, burning rash on both his hands that had developed two days earlier. A couple of days later, it blistered. And a few weeks after that, the skin darkened and scaled. After several months, the skin on his hands finally returned to normal.

The culprit: lime juice and sunlight.

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Β© Getty | chas53

Surgeons remove 2.5-inch hairball from teen with rare Rapunzel syndrome

By: Beth Mole
21 November 2024 at 14:02

After a month of unexplained bouts of stomach pain, an otherwise healthy 16-year-old girl arrived at the emergency department of Massachusetts General Hospital actively retching and in severe pain.

A CT scan showed nothing unusual in her innards, and her urine and blood tests were normal. The same was found two weeks prior, when she had arrived at a different hospital complaining of stomach pain. She was discharged home with instructions to take painkillers, a medication for peptic ulcers, and another to prevent nausea and vomiting. The painkiller didn't help, and she didn't take the other two medications.

Her pain worsened, and something was clearly wrong. When she arrived at Mass General, her stomach was tender, and her heart rate was elevated. When doctors tried to give her a combination of medications for common causes of abdominal pain, she immediately vomited them back up.

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Β© Getty | Ada Summer

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