Published by
Stanford Medicine

Category

otolaryngology

Chronic Disease, In the News, otolaryngology, Patient Care

A look at one woman's long journey to diagnosis and treatment of rare disorder

VertigoThis week’s Medical Mysteries column in The Washington Post tells the story of a woman who lived with debilitating vertigo and odd tinnitus. Baltimore’s Rachel Miller lived with dizziness, the exaggerated sound of her heart and breathing and even anomalies with her vision for five years before she was diagnosed and treated. Many of the doctors she saw dismissed her symptoms as psychosomatic and Miller even went through a period when she stopped seeing doctors for her condition. Miller described her travails this way:

“I had started to feel like a person in one of those stories where someone has been committed to a mental hospital by mistake or malice and they desperately try to appear sane,” recalled Miller, now 53. She began to wonder if she really was crazy; numerous tests had ruled out a host of possible causes, including a brain tumor. Continuing to look for answers seemed futile, since all the doctors she had seen had failed to come up with anything conclusive.

But then she went to see David Zee, MD, who diagnosed her strange symptoms as a rare disorder called superior canal dehiscence syndrome (SCDS), when a small hole or a thin area of the temporal bone allows the fluid of the inner ear to touch the brain, transmitting sounds from the rest of the body, like our heartbeat or breathing, or even the movement of our eyeballs. John Carey, MD, operated on Miller, filling the small hole with bone and other tissue from the skull. As the piece notes, both Carey and Zee trained with Lloyd Minor, MD, now dean of the Stanford School of Medicine, when he was at Johns Hopkins University. Minor discovered SCDS in 1995 and developed the surgical treatment that Miller subsequently received in 2012.

Miller has recovered now, with only occasional problems when she gets a cold. But her story points out how difficult it can be to diagnose rare medical problems.

Previously: NIH network designed to diagnose, develop possible treatments for rare, unidentified diseases and Using crowdsourcing to diagnose medical mysteries
Photo by Mikael Tigerström

Humor, otolaryngology, Research, Stanford News

Pigs to the rescue: How salt pork stops nose bleeds

Pigs to the rescue: How salt pork stops nose bleeds

pig-214349_640With all the talk this week of Nobel Prizes, another recent prize won by a Stanford physician escaped notice. To secure this prize for inventive research in medicine, Stanford otolaryngologist Ian Humphreys, MD, didn’t need access to laboratories packed with MRIs and supercomputers or a team of never-sleeping postdocs. His experimental design couldn’t be called elegant or complex – or perhaps even an experiment at all.

He won for simply deploying a nasal pork tampon. Yes, you read that correctly: He stuck bacon in the bleeding nose of a small girl, and took home the 2014 IgNobel Prize in Medicine.

“We are squealing with pride,” Robert Jackler, MD, chair of Stanford otolaryngology department, wrote to me. “We only wish that the work for which he is so deservedly honored was actually done at Stanford, but we would not want to hog the glory [from] a distinguished university in Michigan.”

Oh, dear. Before your eyes glaze over with bad-piggy puns, here’s the thing: The nasal tampon worked — twice.

Humphreys was working with a team at Michigan State University when a 4-year-old girl came into the Children’s Hospital of Michigan with a bloody nose. The girl had a rare platelet bleeding disorder called Glanzmann thrombasthenia, which can cause fatal internal and nasal bleeding and bruising. To treat her nosebleed, the doctors applied pressure, gave her a clotting protein and sent her home.

She returned the next day, “a pale, ill-appearing child in moderate distress… with brisk bleeding” from the nose, according to the winning paper, “Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia” from the Annals of Otology, Rhinology and Laryngology.

The team whisked her into surgery and inserted  a specialized dressing to control the bleeding. Two days later, however, the bleeding started again. The girl received a transfusion and they continued monitoring her. They took her back in surgery the next day, applying another type of packing material and a coagulating serum. They also gave another dose of coagulating proteins and a red blood transfusion. She remained intubated to allow her nasal cavity to heal.

Two days later, when doctors began to remove the packing material, bleeding began immediately. Quickly, they reapplied the high-tech gauze and upped her dose of coagulation protein. She remained hospitalized, sedated. Five days later, the team again tried to remove the packing. Again, the nosebleed returned.

“At this time, strips of cured salt pork were placed in both nasal vaults,” Humphreys and his colleagues wrote. Three days later, “the bleeding was significantly less evident than it had been on all previous postoperative evaluations.” Go pork!

About a month later, the little girl fell on her face, again causing a nose bleed. This time, the team whipped out the pork right away – bye, bye nosebleed.

It turns out this isn’t the first time salt pork has been used to control a nosebleed. “It’s a traditional therapy for hard to treat bleeding disorders,” Jackler told me. “When I was a resident in the 1980s, we would buy a lump of salt pork to use.”

The salt-packed pork is thought to work by inducing swelling, thereby blocking the bleeding blood vessel.

“It is not ignorant, even though they deem it ignoble,” Jackler said.

Previously: Ten-year-old YouTube star: Famous for her singing, not for her illness, Stanford physicians and engineers showcase innovative health-care solutions and Stanford chair of otolaryngology discusses future regenerative therapies for hearing loss
Photo by Mutinka

Addiction, FDA, Health Policy, otolaryngology, Public Health

How e-cigarettes are sparking a new wave of tobacco marketing

e-cig tip - smallFollowing the FDA’s announcement earlier this spring that it would regulate the sale – but not marketing – of electronic cigarettes, debate has continued on the safety of using e-cigarettes and the ethics of advertising them.

In case you missed it, today’s New York Times delves into the issue and highlights how Big Tobacco is now rolling into the world of e-cigarettes, which writer Matt Richtel calls an “overnight sensation.” A subsidiary of Reynolds American plans to begin distributing its Vuse e-cigarette line nationwide on June 23 with a campaign that includes television ads (forbidden for cigarettes) in major markets, and other tobacco companies have similar entries in the works. Questions about the potentially far-reaching effects advertising of e-cigarettes, including promoting smoking tobacco and reaching child audiences, concern public-health advocates and other critics – and a U.S. Senate hearing is planned for Wednesday.

From the article:

Matthew L. Myers, [JD,] president of the Campaign for Tobacco-Free Kids, who is scheduled to testify at the Senate hearing, said the fact that the F.D.A. did not limit marketing allowed tobacco companies to return to the airwaves with ads that make e-cigarettes sexy, rebellious, glamorous — “exactly the same themes we saw work with kids in the U.S. for decades with cigarettes.”

In the absence of marketing regulation, “they will set the agenda,” Mr. Myers said of the tobacco companies. “They will drive the evolution of the product in a way that serves their interests and not public health, and that’s exactly what’s happening.”

Robert Jackler, MD, chair of otolaryngology at Stanford Medicine, is an expert on tobacco marketing who studies it through his center, the Stanford Research Into the Impact of Tobacco Advertising. Like Myers, he has vocalized his concerns about e-cigarettes and tobacco companies’ aggressive marketing tactics – especially those targeted toward teens – and you can hear more about his views and research in this recent podcast.

Previously: E-cigarettes and the FDA: A conversation with a tobacco-marketing researcherE-Cigarettes: The explosion of vaping is about to be regulatedStanford chair of otolaryngology discusses federal court’s ruling on graphic cigarette labels and What’s being done about the way tobacco companies market and manufacture products
Photo by Li Tsin Soon

Applied Biotechnology, Cancer, Genetics, otolaryngology, Research, Stanford News

Stanford researchers identify genes that cause disfiguring jaw tumor

Stanford researchers identify genes that cause disfiguring jaw tumor

jawPatients with the rare jaw tumor ameloblastoma have few treatment choices. Radiation and drugs have failed to stop this slow-growing cancer, leaving jaw removal as the only option. The surgery also takes out facial nerves and blood vessels, and so patients need reconstructive surgery and rehabilitation just to smile and chew again.

In a new study, published in Nature Genetics, Stanford researchers discovered two gene mutations that cause this tumor. Their findings point to FDA-approved drugs that are effective against these mutations in other types of cancer.

To find the mutations, the researchers sequenced mRNA – messages copied from genes that tell the cell how to make proteins – from slices of preserved tumor. In 80% of the samples, they found a mutation in either the SMO or the BRAF gene. Interestingly, the SMO mutations occurred predominantly in the upper jaw, while BRAF mutations were found mainly in the lower jaw.

From our press release:

“These genes are essential for delivering signals of growth and development, particularly in developing organs,” said Robert West, MD, PhD, associate professor of pathology at Stanford and a senior author on the study. “But it’s increasingly apparent that they are often mutated in cancers.”

Perhaps most promising, researchers found that there are already FDA-approved drugs for cancers with mutations in the same developmental pathway. A drug called vemurafenib is toxic to ameloblastoma cell cultures that harbor a BRAF mutation, they found. This drug is effective against melanomas that carry the same mutant gene. Researchers also found that a compound called arsenic trioxide, an approved anti-leukemia drug, is affective at blocking the mutant SMO protein.

West and his colleagues, A. Cain McClary, MD, a co-author and chief pathology resident at Stanford Hospital, and A. Dimitrios Colevas, MD, an associate professor of oncology at Stanford, have already submitted an application to the biotech company Genentech, which manufactures the most popular brand of vemurafenib. Their pilot study would test whether the drug could shrink tumors in people with ameloblastomas.

Also from the release:

Throughout this project, McClary has engaged with an ameloblastoma Facebook group to hear members’ stories and to learn about what a patient goes through during the initial surgery and subsequent facial reconstruction. He plans to conduct a webinar with the group, and can’t wait to share his findings with them.

“It’s a great motivator,” he said about his involvement with the group. “Our face is a special place. I couldn’t imagine not smiling.”

Patricia Waldron is a science writing intern in the medical school’s Office of Communication & Public Affairs.

Previously: Gene panel screens for dozens of cancer-associated mutations, say Stanford researchers
Photo by Gray’s Anatomy Plates/Wikimedia Commons

In the News, Neuroscience, otolaryngology

Say that again? Tone deafness is inherited, study finds

Say that again? Tone deafness is inherited, study finds

singing2Can’t carry a tune? Don’t spend all your money on music lessons: Turns out tone deafness is an inherited non-talent.

Leonard Bernstein (no, not that one) writes in The Checkup:

Finnish researchers say they have found genes responsible for auditory response and neuro-cognitive processing that partially explain musical aptitude. They note “several genes mostly related to the auditory pathway, not only specifically to inner ear function, but also to neurocognitive processes.”

“Humans have developed the perception, production and processing of sounds into the art of music. A genetic contribution to these skills of musical aptitude has long been suggested,” the researchers note in the study. Using a genome-wide scan, researchers evaluated 767 individuals “for the ability to discriminate pitch (SP), duration (ST) and sound patterns (KMT), which are primary capacities for music perception.” The study was published in Molecular Psychiatry.

Previously: Music that comes straight from the soul…er, DNA
Photo by Kathleen Tyler Conklin

otolaryngology, Research, Stanford News, Stem Cells

Understanding hearing loss at the molecular level

Understanding hearing loss at the molecular level

baby earDeep inside the ear, specialized cells that are confusingly called “hair cells” – they have nothing to do those hairs protruding from your Uncle Fred’s ears – detect vibrations in the air and translate them into sound. Without them, you can’t hear. Unlike non-mammalian species, in humans, there are a limited number of these cells, and if enough of them get damaged or killed off, hearing loss occurs.

Hair cells are the key to understanding the process of hearing. By figuring out how these cells work at a molecular level, scientists believe they can eventually develop better treatments and possible cures for deafness. Key to this goal is figuring out how to regenerate these cells if they get damaged or die off.

A new Stanford study published in the journal Development takes one more step along this pathway by showing that these early hair cells can be grown back in newborn mice.

“The study builds on the hypothesis that younger cochlea – that portion of the inner ear where the hair cells are located – can regenerate,” said Alan Cheng, MD, one of the senior authors of the study, which was done in collaboration with St. Jude Children’s Research Hospital.

“No spontaneous auditory hair cell regeneration has been observed in postnatal mammals prior to this study,” Cheng, an assistant professor of otolaryngology and pediatrics, told me. “Extensive efforts from laboratories around the world have focused on understanding mechanisms that can drive mammalian hair cell regeneration.”

In their study, the scientists induced hair cell loss in their mouse models at birth and then observed there was “spontaneous regeneration of hair cells.” One week after birth, there was no much regeneration.

The research also showed, interestingly, that most of these regenerated hair cells in the young cochlea didn’t ultimately survive. “This lack of survival posits a new challenge to regenerating hearing,” Cheng said.

Previously: Battling hearing loss on and off the battlefield, Stanford researchers gain new insights into how auditory neurons develop in animal study, Stanford hearing study upends 30-year-old belief on how humans perceive sound and Stanford chair of otolaryngology discusses future regenerative therapies for hearing loss
Photo by boltron-

otolaryngology, Podcasts, Research, Stanford News

Listening to elephants, communicating science, and inspiring the next generation of researchers

Listening to elephants, communicating science, and inspiring the next generation of researchers

Caitlin O’Connell-Rodwell, PhD, is an instructor in Stanford’s Department of Otolaryngology and a scientist who studies, among other things, how elephants hear. In this just-published Neurotalk podcast, Rodwell discusses her studies from the field, including how elephants use foot stomping and low-frequency vocalizations to communicate. “If you think of the earth as a trampoline and you have this 10-ton animal on the earth running, you’re going to create a huge wave,” she said of the seismic vibrations they create. Elephants can also use their big ears, and comparatively large malleus middle-ear bone, to hear, and draw still to listen, she noted.

The podcast details O’Connell-Rodwell’s contributions to science as a writer and instructor of science communications at Stanford and for the New York Times, as well as her mission to encourage girls to pursue the hard sciences. She said:

As a woman in science, especially doing a little bit of physics, if you don’t have a role model it’s very difficult to try to imagine yourself [there]. So I got interested to get girls interested in the hard sciences because there’s no reason why they shouldn’t be there.

You have to get kids excited about science… One of the things that got me interested in entymology to begin with was that childlike enthusiasm for the miniature and the unknown.

She added, “In our minds it’s a story, but it’s not obvious to everyone else.”

Previously: Elephants chat a bit before departing water hole, new Stanford research shows and Researcher dishes on African elephant soap opera
Photo in featured entry box by Caitlin O’Connell-Rodwell and Timothy Rodwell

otolaryngology, Patient Care, Pediatrics, Stanford News, Technology

Baby steps: Therapy that helps the deaf to hear

Baby steps: Therapy that helps the deaf to hear

Baby TalkWhat better way to highlight how cochlear implants work than by sharing the story of 1-year-old Lucile Ross, an utterly adorable participant in Stanford’s growing new “teletherapy” program called BabyTalk?

In an Inside Stanford Medicine story published today, I write about the severely hearing-impaired Lucile and the program that helps her and 17 other toddlers learn to use their surgically imbedded cochlear implants to listen and speak. I describe what happened one day in June, about a month after her implant was first activated, when Lucile was busily eating Cheerios and suddenly grabbed her ear in astonishment. She had just heard something, prompting her hearing therapist to comment, “That was beautiful.”

My story goes on to discuss the technology behind the implants, the kinds of “sounds” that the tiny patients first hear, and how the children begin to interpret these sounds and learn how to speak:

A cochlear implant is an electronic device. One part includes electrodes that have been surgically implanted in the inner ear; another part, which sits outside the ear, includes a microphone. It can help the profoundly deaf and severely hard of hearing learn to listen and speak, and is particularly successful if implanted prior to the age of 3. The first three years after a child is born is the most critical period for the development of speech and language.

The device works by electronically transporting sounds from the microphone, which sits behind the ear, to the inner electrodes, which stimulate the auditory nerves and send sound information to the brain. The device doesn’t restore normal hearing; new recipients have described what they “hear” as sounding robotic or like ducks quacking, or just plain weird. Instead, it can give a deaf person a useful representation of sounds in the environment and help him or her to understand speech. But in order to do that, training is needed.

BabyTalk delivers that training – via the iPad – to geographically isolated patients and their families. For my story, I joined Lucile’s teacher, Sharon Nutini, at the Jean Weingarten Peninsula Oral School for the Deaf in Redwood City, Calif., Stanford’s partner in the BabyTalk program, for one of the virtual lessons with Lucile and her dad, Lyle, at home in Marin County. I had to agree with what Lucile’s mother had earlier told me over the phone: Watching Lucile learn to speak is an amazing experience. More from the piece:

 “She’s giving us signs that she understands us, that she’s learning language,” Lizzie Ross said. “We think that she’s going to catch up quickly. Sharon gives us exercises that we do during the week. We sing songs that elicit certain language, we work on the recognition of animal sounds — the dog barking. There’s a lot of repetition, a lot of fun play stuff with her own toys — just what she would normally do on a daily basis.

“We knew it would be a hurdle. But for us, it’s been worth every minute of it. We were lucky that the opportunity was out there for her to hear and develop speech at a young age. It’s been a pretty amazing experience.”

Previously: Using the iPad to connect ill newborns, parents, “What’s that?” Stanford researchers identify cells important to hearing lossCochlear implants could help developmentally delayed infants, says Stanford/Packard study and  In people born deaf, auditory cortex takes on touch and vision, study finds
Photo of Lucile and her father, Lyle, by Norbert von der Groeben

otolaryngology, Research, Stanford News, Videos

Stanford-developed probe aids study of hearing

Stanford-developed probe aids study of hearing

Stanford engineers and medical researchers have developed a tiny tool known as a force probe to study sensory cells in the ear, as Anthony Peng, PhD, a postdoctoral research fellow in otolaryngology, and Anthony Ricci, PhD, professor of otolaryngology, discuss in this brief video. A Stanford News article provides more details on this Bio-X project and how, in contributing to scientists’ understanding of how we interpret sound, the findings could inform new ways of treating some forms of hearing loss.

Previously: Stanford hearing study upends 30-year-old belief on how humans perceive soundStanford researchers gain new insights into how auditory neurons develop in animal studyStanford chair of otolaryngology discusses future regenerative therapies for hearing loss and Stanford engineer studies bones that aid hearing

otolaryngology, Research, Science, Stanford News

Stanford researchers gain new insights into how auditory neurons develop in animal study

Stanford researchers gain new insights into how auditory neurons develop in animal study

The auditory system of newborn mammals is still developing when a baby mouse – or a baby human – is born. Mice are born deaf and don’t start hearing until the twelfth day of life. In a study published Monday in PNAS, Stanford researchers report that new auditory neurons are not only being developed in the first month of life, but continue to develop in juvenile mice.

Whether these results can be applied to our understanding of the hearing process in humans is still speculative at this point, says the senior author of the paper, Stefan Heller, MD, PhD. But they could helpful in understanding how hearing develops in children. Heller wrote in an e-mail:

We all know that the human brain is highly plastic in the first years of life. Babies, toddlers and preschool children learn with a speed that is unprecedentedly efficient and plasticity is certainly highly involved when children acquire for example the ability to speak.

Hearing and the fine tuning of sound perception plays a major role in this. A child that is born deaf will have an incredibly difficult time to learn speech unless the auditory system is stimulated, for example, with a cochlear implant.

Continue Reading »

Stanford Medicine Resources: