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One Gene Mutation Links Three Mysterious, Debilitating Diseases

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On a good day, my shoulders, knees, and hips will dislocate two to five times apiece. The slightest bump into a table or door will bloom new bruises on my arms and legs or tear a gash in the thin skin on my hands. My blood pressure will plummet each time I stand, making me feel woozy, nauseated, and weak. I’ll have trouble focusing and remembering words. I’ll run my errands from underneath an umbrella to prevent an allergic reaction to the Sun.

I have Ehlers-Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS)—a trifecta of weird diseases. POTS, EDS, and MCAS are so obscure that many doctors have never even heard of them. But a study published in Nature Genetics might help change that: Researchers have found a genetic mutation that links all three conditions.

There are at least six types of EDS, all caused by defective connective tissue. I’ve got the most common form, Hypermobility Type (EDS-HT), also known as EDS-III. EDS-HT is considered the most “benign” form—that is, it’s generally not fatal—but the chronic pain, injuries, and other symptoms it causes can easily take over a person’s life.

POTS is a form of dysautonomia, or dysfunction of the autonomic nervous system (ANS). The ANS manages all the things your body does without thinking, from breathing and pumping blood to digesting food. My POTS is pretty mild; at the moment, the hardest parts are the fatigue and the cognitive issues caused by decreased blood flow to my brain. Other people are not so lucky and may need feeding tubes or constant bed rest.

MCAS, also called Mast Cell Activation Disease, is the newest and potentially the trickiest of the three. Mast cells are generally heroes in the body, helping keep the immune system alert and responsive. But some people have paranoid mast cells that can perceive just about anything (foods, medications, temperatures, deep breathing) as a threat. And when they go off, there’s no telling what will happen; researchers have implicated mast cell activation issues in dozens of symptoms and conditions, from anaphylactic shock to irritable bowel syndrome as well as dysautonomia and connective tissue problems.

People who have EDS-HT often also have POTS or MCAS or both, yet the relationships between the three remain murky. Some scientists think EDS causes POTS. Others think MCAS causes POTS and EDS. But we don’t really know, because there’s been barely any research on any of them. It’s hard to study conditions that look different in every patient (I've never met anyone else with one of these conditions who has a sunlight allergy) and have few, if any, quantifiable symptoms. Another reason for the lack of scientific interest? All three conditions are far more common in women, a trait long associated with meager research funding and minimal medical concern.

Consequently, there are no FDA-approved tests for these diseases, and there are certainly no cures. People with EDS-HT wear joint braces to reduce dislocations and are taught to manage their pain. People with POTS are prescribed beta blockers, high-sodium diets, and compression gear to keep up their blood pressure. People with MCAS are given antihistamines.

EDS-HT is typically passed from parent to child, and scientists have found genetic markers for other types of EDS, so it’s not unreasonable to think that it could be caused by mutated DNA.

Fortunately, the cost of DNA sequencing has continued to drop, and clusters of researchers around the world are beginning to take a look. The latest study, led by Joshua Milner at the National Institute of Allergy and Infectious Diseases, involved 96 people with EDS-HT and mast cell issues. POTS symptoms were common, especially gut problems like Irritable Bowel Syndrome.

The study participants had another thing in common: higher-than-normal levels of a protein called tryptase in their blood. Tryptase is part of the immune system’s reaction and has been linked to a handful of core EDS-HT and POTS symptoms, Milner says.

"Tryptase can contribute to pain sensitivity," he told me. "It can contribute to blood vessels doing funny things, and it can contribute to how your connective tissue, your bones and joints, are made."

Most people with mast cell issues actually have normal levels of tryptase, so the group Milner and his colleagues tested represented just a small subset of mast cell patients. But that subset did seem to have a unique genetic signature: an extra copy of a gene called TPSAB1. Under normal circumstances, TPSAB1 makes a form of tryptase called alpha-tryptase. People with a double dose of the gene are getting a double dose of the protein, too.

Armed with this clue, the researchers then went back through thousands of patient records for healthy people. When they looked at the DNA results of people with high tryptase levels, they found that all of them also had the TPSAB1 mutation. The scientists then interviewed a number of these supposedly hearty specimens and found that all of them were living with symptoms that sounded suspiciously similar to those of EDS-HT, POTS, and MCAS. They'd just never been diagnosed. (This is unsurprising—the average time to diagnosis for a person with EDS-HT is 10 years.)

In short, Milner and his team had discovered a genetic biomarker for Ehlers-Danlos Syndrome. Now, EDS-HT is a very variable condition, and the few experts that do exist suspect it's actually a bunch of different diseases called by the same name. Still, this finding represents one possible clinical test for what has been an un-testable illness.

Alpha-tryptase is a funny thing. About 30 percent of people don't make it at all, and they seem just fine without it, which means that a potential treatment pathway for the EDS-HT/MCAS/POTS hat trick could involve simply shutting down the alpha-tryptase factory.

It’s "interesting work," says Lawrence Afrin, a hematologist at the University of Minnesota. He told me the study represents "early progress toward further unraveling these illnesses." And Afrin should know: he's one of the leading MCAS experts in the country.

He agrees that alpha-tryptase could be a promising avenue for treatment. "But if I've learned anything about [MCAS]," he says, "it's that it's incredibly complex. Hopefully, with another 10,000 studies, we'll make 10,000 more bits of progress."

In the meantime, people with EDS, POTS, and MCAS have found other ways to cope. Communities of patients have popped up in cities across the globe and all over Twitter, Tumblr, and elsewhere on the web. These illnesses can be incredibly isolating and lonely—but, as I've learned, none of us are alone.

If you recognize yourself or your symptoms in this story, read up on the basics of EDS, MCAS, and POTS, and brace yourself for an uphill battle.

"Find a local physician who’s willing to learn," Afrin advises.

"And try to be patient," Milner says. "I know it's hard, but stick with it. We're all figuring this out together."

Know of something you think we should cover? Email us at tips@mentalfloss.com.

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CDC Traces Infectious Disease Outbreak in Seven States to Pet-Store Puppies
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Campylobacter bacteria have infected 39 people in seven states, and puppies sold at one chain of pet stores in Ohio are likely to blame. As NPR reports, a federal investigation is currently underway as to the exact cause of the outbreak of the intestinal infection.

The symptoms of Campylobacter include fever, diarrhea, and abdominal pain, and in rare cases it can lead to death in victims with weakened immune systems. About 1.3 million people fall ill to it each year, but the bacteria can also infect animals like dogs.

Of those hit by the latest outbreak, 12 are employees of the national chain Petland in four states, according to the CDC. The other 27 have either bought a puppy from a Petland store recently or live with or visited someone who has. Eighteen cases have been reported in Ohio, and the rest have appeared in Florida, Kansas, Missouri, Pennsylvania, Tennessee, and Wisconsin. While no deaths have been reported, nine victims have been hospitalized.

Puppies, like humans babies, are more likely to get sick than full-grown dogs, which may explain how the Petland animals caught the illness in the first place. But even apparently healthy adult dogs may be harboring the bacteria and spreading it through their feces. To avoid catching it from your canine companion at home, the CDC recommends washing your hands whenever you make physical contact. This also applies when handling their food and especially when picking up and throwing away their poop (with disposable gloves of course).

For the small percentage of people who do contract the infection each year, the best course of action is to wait it out if you're healthy otherwise: Symptoms take about a week to clear up.

[h/t NPR]

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10 Intriguing Facts About Joseph Lister
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Surgical patients once routinely died from their operations, as physicians believed that bad air—not bacteria—was responsible for their post-operative infections. This changed in the 19th century with a British physician named Joseph Lister (1827-1912), who dedicated his life to learning what caused infections and how to prevent them.

Get to know the quiet, studious doctor who is often called “the father of modern surgery"—and who has both a mountain and a popular mouthwash brand named after him.

1. JOSEPH LISTER'S FATHER HELPED USHER IN THE MODERN MICROSCOPE—AND HIS SON'S FUTURE CAREER.

As a child, Lister’s scientific curiosity was encouraged by his father, Joseph Jackson Lister, who was an English wine merchant and amateur scientist. The elder Lister's tinkering with early microscopes paved the way for today’s modern achromatic (non-color distorting) microscope—an accomplishment that would admit him to the Royal Society, the world’s oldest national scientific society.

In addition to dissecting small creatures, articulating their skeletons, and sketching the remains, the younger Lister—who knew from an early age that he wanted to be a surgeon—spent much of his childhood using his father's microscopes to examine specimens. He would rely on microscopes throughout his scientific career, using them to research the action of muscles in the skin and the eye, how blood coagulated, and how blood vessels reacted during an infection’s early stages.

2. LISTER WAS ENGLISH, BUT HE SPENT MOST OF HIS CAREER IN SCOTLAND.

Lister was born in the village of Upton, in Essex, England, and studied at University College, London. After graduating and working as a house surgeon at University College Hospital—where he became a Fellow of the Royal College of Surgeons—the young doctor moved to Edinburgh, Scotland, to work as renowned surgeon James Syme's assistant at the Royal Infirmary [PDF].

The move was supposed to be temporary, but Lister ended up finding both professional and personal success in Scotland: He married Syme’s daughter, Agnes, and was eventually appointed Regius Professor of Surgery at the University of Glasgow.

3. HE THOUGHT ABOUT BECOMING A PRIEST INSTEAD OF A DOCTOR.

Like many young professionals, Lister sometimes had doubts about his career path. The physician received a devout Quaker upbringing, and at one point he considered becoming a priest instead of a surgeon. However, Lister’s father encouraged him to stay in medicine and serve God by helping the sick. Lister would ultimately leave the Quaker faith to marry Agnes Syme, who belonged to the Scottish Episcopal Church.

4. HE STRUGGLED WITH DEPRESSION.

While away at school, Lister came down with a mild case of smallpox. He recovered, but the health scare—along with the death of his older brother, who succumbed to a brain tumor—pushed him into a deep depression. The student left school in London and traveled around Britain and Europe for a year or so before returning to the university and pursuing his medical studies with renewed vigor.

5. LISTER IS THE REASON WE STERILIZE WOUNDS.

When Lister was a surgeon, bloodstained bed linens and lab coats weren’t washed, and surgical instruments were rarely cleaned. And even though Italian physician Fracastoro of Verona had theorized in 1546 that small germs could cause contagious diseases, nobody thought they had anything to do with wound infections. Instead, many surgeons believed that miasmas—or bad air—emanating from the wound itself were responsible.

Lister, however, trusted his own observations. As a young doctor-in-training, he noted that some wounds healed when they were cleaned and damaged tissue was removed. However, the problem of infection continued to plague Lister through his career until he encountered the work of French scientist Louis Pasteur, who discovered that microbes could cause infection.

Intrigued, Lister began using a formula of diluted carbolic acid—a coal-tar derivative used to kill parasites found in sewage—to sterilize medical instruments and wash his hands. He also applied this mixture to bandages, and sprayed carbolic acid in operating rooms where surgeries resulted in high mortality. He reported the results at a meeting of the British Medical Association in 1867: "my wards […] have completely changed their character, so that during the last nine months not a single instance of [blood poisoning], hospital gangrene, or erysipelas has occurred in them.”

While some physicians balked at his techniques, claiming they wasted time and money, Lister’s approach caught on. Soon, physicians in Germany, the U.S., France, and Britain were following his lead. As for Pasteur and Lister, the two scientists corresponded, and would finally meet in person for the first time in 1878. And at Pasteur's 70th birthday celebration in 1892, Lister gave a praise-filled speech about the life-saving benefits of Pasteur's research.

6. LISTER WAS KIND TO PATIENTS.

Lister referred to some patients as "this poor man" or "this good woman" (he refused to call them "cases"), and he always tried to keep them calm and comfortable pre-and post-operation. Once, the surgeon even sewed a doll's missing leg back into place for a young charge.

7. HE TREATED QUEEN VICTORIA ...

Lister's most famous patient was Queen Victoria: In 1871, the surgeon was called to the monarch's estate in the Scottish Highlands after the queen sprouted an orange-sized abscess in her armpit. Armed with carbolic acid, Lister lanced the mass, drained its pus, and dressed and treated the wound to prevent infection—but at one point, he accidentally sprayed his disinfectant in the displeased queen's face.

Lister would later joke to his medical students, "Gentlemen, I am the only man who has ever stuck a knife into the queen!"

8. ... WHO LATER MADE HIM A BARON.

As Lister's fame grew, Queen Victoria made him a baronet in 1883. Later, she elevated the physician to baron status. Lister would remain beloved among members of the royal family, including Edward VII, who was diagnosed with appendicitis two days before his royal coronation in 1902. His doctors consulted Lister before performing a successful surgery, and the king made sure to thank him once he was crowned. "I know that if it had not been for you and your work, I wouldn’t be sitting here today," the monarch told Lister.

9. LISTERINE MOUTHWASH IS—SURPRISE!—NAMED AFTER LISTER.

Even if you didn’t learn about Lister in science class, you’ve probably used his namesake formula: Listerine. The popular mouthwash brand—which is promoted with the slogan "Kills germs that cause bad breath"—was originally invented in 1879 by American physician Joseph Lawrence. Lawrence had created the green liquid as an alcohol-based surgical antiseptic, and he fittingly named the product after his pioneering predecessor. However, Listerine would ultimately be marketed for oral hygiene purposes, after first being peddled as a cigarette additive, a cure for the common cold, a dandruff treatment, and more.

10. LISTER ALSO HAS A MOUNTAIN NAMED AFTER HIM.

Lister has public monuments and hospitals dedicated to him around the world, but if you travel to Antarctica, you may also encounter a massive mountain named in his honor: At around 13,200 feet, Mount Lister is the highest point in the Royal Society Range, a mountain range in Victoria Land, Antarctica, that was first explored by the British during the Discovery Expedition from 1901 to 1904. This expedition was organized by the Royal Society and the Royal Geographical Society—and since Lister was the Royal Society’s president from 1895 to 1900, the range’s most majestic peak was named after him.

Additional Source: The Butchering Art: Joseph Lister's Quest to Transform the Grisly World of Victorian Medicine by Lindsey Fitzharris

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