ArcaMax

Ten out of 11 kids who received gene therapy for a rare variant of congenital deafness enjoyed significant improvements when tested one year after the surgery, according to doctors involved in the study.

The therapy addresses mutations in the OTOF gene that cause hearing loss by delivering a new working copy of the gene. The hope is that by biologically repairing cell function, the doctors wrote, gene therapy could potentially restore the full spectrum of hearing, unlike cochlear implants, which transform sounds into electrical signals to directly stimulate the auditory nerve.

The form of deafness treated affects 1%-8%of deaf people globally, but the treatment could be tweaked to address other congenital forms. More than 12,000 children are born with hearing loss in the U.S. every year.

Body of Knowledge

Human lips have a reddish color due to high concentrations of tiny capillaries just below the skin. The blood in these capillaries is normally highly oxygenated and bright red. If a person is anemic or has lost a great deal of blood, the lips become pale. In cold weather, lips can appear blue because capillaries constrict, and blood loses oxygen and changes to a darker color.

Get Me That, Stat!

Essential tremor is one of the most common movement disorders, characterized by involuntary, rhythmic shaking movements, typically in the hands but sometimes the head, voice and legs. It often begins during adolescence or in middle age (40-50 years old). Half to 70% of cases are inherited.

Counts

Three: number of years older people who have lower levels of education, live alone or in a care home or don't have a close relative are when they receive an official diagnosis of dementia compared to those with higher levels of education or better support networks, according to JAMA Network Open.

Stories for the Waiting Room

Secret shoppers surveyed New York's unlicensed marijuana dispensaries and found they were significantly less likely than licensed retailers to require age verification before store entry or purchase.

Part of the push for legalizing weed has been the argument that it reduces risk through regulation, but given that unlicensed retailers outnumber licensed (and regulated) ones in New York and probably elsewhere, things may not be going according to plan.

The secret shoppers also found that unlicensed retailers more often sold products that appeal to young people, such as energy drinks, soda and candy.

Doc Talk

Peak bone mass: The maximum amount of bone tissue a person accumulates during their lifetime. For most people, peak bone mass occurs between ages 25-30. By age 40, most people are beginning to lose bone mass, though that rate of loss can be moderated by diet, exercise and good lifestyle habits.

Phobia of the Week

Enetophobia: Fear of sharp objects, particularly needles

Best Medicine

Patient: "Am I going to be OK, doctor?"

Doctor: "Yes. Nothing to worry about. The procedure was routine and not at all complicated."

Patient: "Good, I hope you remember that when you're writing up the bill."

Observation

"I gave up visiting my psychoanalyst because he was meddling too much in my private life." -- American playwright Tennessee Williams (1911-1983)

Medical History

This week in 2008, the first procedure in Britain to implant "bionic" eyes was carried out at Moorfields Eye Hospital in London on two blind patients with retinal pigmentosa but intact optic nerves.

In four-hour operations, surgeons implanted a tiny electrode panel into the back of the eye and an ultra-thin receiver under the skin near the ear to pick up a wireless signal from a tiny camera on sunglasses and a signal processor worn on a belt. The patients could then perceive an array of spots of light showing crude shapes and movements.

Ig Nobel Apprised

The Ig Nobel Prizes celebrate achievements that make people laugh, then think. A look at real science that's hard to take seriously and even harder to ignore.

In 1996, the Ig Nobel Prize in economics went to Robert J. Genco of the University of Buffalo for his discovery that "financial strain is a risk indicator for destructive periodontal disease."

When making financial investments, chews wisely.

Med School

Q: Why does my nose burn when I inhale water up it?

A: The inside of the nose is a salty environment. Cells have a certain saline content. Freshwater inhaled up the nose lacks salt and imbalances saline concentrations, triggering the burning sensation. Cold water increases the response, similar to an ice cream headache. The resulting flow of nasal mucus is the nose's effort to restore its salty nature.

Last Words

"See you soon." -- Franz Reichelt (1878-1912), an Austo-Hungarian tailor and inventor who had created a "parachute suit," which was supposed to billow out between the arms and legs during a fall to create a slower, softer landing. Early tests from modest heights (20-30 feet) were largely unsuccessful. In one, Reichelt broke his leg. Undaunted, he decided to jump from the Eiffel Tower with news media in attendance. It did not go well.

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