For $349, Test Your DNA for 100+ Hereditary Diseases

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A company called Counsyl claims to be able to test an individual's DNA and determine the risk of passing on over 100 hereditary diseases to future offspring for $349 (or free with insurance). Such hereditary diseases they are able to test for include the commonly known cystic fibrosis to more rare conditions like Nijmegen Breakage Syndrome. The full list can be viewed here.

Though many of the diseases listed are associated with ear, nose, throat problems, the list unfortunately does not include hereditary hearing loss conditions.

To do the testing, all you need to do is get the kit mailed to your home, spit into their test tube, and send the kit back to the company.

Read more about this in the New York Times here.

Though this all sounds great, there are some potentially unforeseen implications one needs to consider prior to obtaining this test beyond the issues the NYT article brought up. If the testing comes back positive, one runs the risk of:

1) Having your health insurance dropped or premiums increased... not just for you, but for your offspring (pre-existing condition)
2) Businesses may not want to hire you as you would "cost" them more (missed days from work due to illness, etc)

Though insurance may cover the testing... not sure if you actually want the insurance company to pay and have them potentially find out the results, especially if positive.

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New Surgical Approach to Treat Small Zenker's Diverticulum

In the January 2010 edition of Laryngoscope, an interesting paper entitled "Transoral resection of short segment Zenker's diverticulum and cricopharyngeal myotomy: an alternative minimally invasive approach" was published on a new endoscopic approach to surgically treat very small Zenker's Diverticulum. This endoscopic approach is also able to treat cricopharyngeal spasms/hypertrophy.

Just as for the Endoscopic Staple Diverticulostomy (ESD), the most common endoscopic approach to treat Zenker's diverticulum, a Weerda laryngoscope is used to visualize the pouch. However, instead of using a stapler to treat the pouch, the pouch is everted into the esophagus and the pouch excised. The cricopharyngeal muscle is than incised under the microscope as well as endoscopically before the mucosal incision is closed using sutures.

The authors have called this procedure Trans-Oral Resection of Diverticula (TORD). When used to treat the cricopharyngeal muscle only, the procedure is called Trans-Oral Cricopharyngeal Myotomy (TOCPM).

Patients generally go home after 24 hours.

Read more about this research here.

No... our office does not offer these procedures at this time. Only the ESD approach.

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Research by Dr. Chang Mentioned in NSDA Newsletter

Our Voice, a newsletter published by the National Spasmodic Dysphonia Association, published a brief story (Volume 18, Number 2, Page 3) on research that Dr. Chris Chang performed that was published in ENT Journal May 2009.

The research is entitled "A Survey of Current Practices of Physicians Who Treat Adductor Spasmodic Dysphonia in the US". Co-authors include Drs. Peter Chabot and Christopher Walz.

Click the image to enlarge in order to read the article.

Read the research abstract here.

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Cold Urticaria (aka, Allergy to Cold Temperatures)

Fox 10 News did a story on Cold Urticaria which basically is an allergy to cold temperatures. With cold temperature exposure whether it be cold air, ice cube, or even ice cream, it can cause an allergic reaction resulting in lip swelling, drop in blood pressure, rash, significant itchiness, etc. There has even been cases where a person will go into anaphylactic shock if they jump into a cold swimming pool.

Oddly enough, the symptoms typically occur AFTER warming up after a cold exposure due histamine release.

Beyond avoiding cold things, there's no "cure" for this condition. Symptoms can be controlled with antihistamines.

Watch the story below! Or read the story here. Here's another story from a different source.

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Cell Phone Use May Cause Ear Pain/Dermatitis

With increasing use of cell phones in the population, there seems to be an increasing number of patients who present with complaints of pain in/around the ear with cell phone use. When cell phone use ceases, the pain/discomfort fades only to return with use.

In this scenario, something to consider is contact dermatitis due to the cell phone. Why? Apparently, many cell phone casings contain free nickel which often causes skin problems, just like cheap jewelry.

Check out this table which shows the results of nickel spot testing on 23 different cell phones.

Read a research paper on this topic here.

There is also concern regarding the electromagnetic waves emitted by cell phones that may also cause blood circulation changes that may lead to discomfort as well.

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Runny Nose Due to Spinal Fluid Leakage and Not Allergies!

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The Washington Post published a story on January 19, 2010 entitled "Doctors changed diagnosis after woman said allergies weren't causing runny nose." In this story, the patient's runny nose from only one side was actually due to a CSF leak (cerebrospinal fluid leakage) and puts her at major risk for meningitis. Unfortunately for this particular patient, the hole through which this fluid was coming out from also had some brain tissue. She required major surgery in order to correct this problem.

An interesting trivia related to CSF leaks is that actor George Clooney suffered one after a blow to the head while filming a torture scene in the 2005 movie "Syriana".

The take-home message is that not all runny noses are due to allergies, especially if it is continuous and only occurs on one side.

Typically, if CSF leak is suspected, a red-top tube is provided to the patient to collect some of this fluid. The specimen is than sent to be tested for beta2-transferrin which is ONLY found in CSF.

A high resolution CT scan of the sinuses and/or temporal bone is also obtained to localize WHERE the abnormal leak is coming from.

What type of surgery is performed utterly depends on where the leak is coming from... if truly sinus in origin, endoscopic sinus surgery is performed. If coming from the bone around the ear, a middle cranial fossa approach to fixing the leak is performed.

Read the story here.

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You May Have a Condition Called Local Allergic Rhinitis Even If Allergy Testing Negative!!!

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A recent study was published describing a condition called "Local Allergic Rhinitis." This condition is when a patient appears to have sino-nasal allergies, but yet, have negative allergy test results whether on skin prick or RAST.

Up to 40% of patients with negative allergy test results may have this condition.

In order to diagnose this condition, it requires the detection of local antigen specific IgE in nasal secretions during natural exposure to aero-allergens as well as positive nasal allergen provocation test with local production of tryptase, eosinophil cationic protein and antigen specific IgE.

Read the study here.

Please note, our office is not able to perform these testing. We recommend getting evaluated at University of Virginia Allergy Department if you suspect you have Local Allergic Rhinitis.

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NYT: Blowing the Nose May Actually Make You Sicker???

On February 9, 2009, the New York Times published an interesting story regarding what happens if you blow your nose too hard. The story "The Claim: Never Blow Your Nose When You Have a Cold" reported that nose blowing generated enormous pressure — “equivalent to a person’s diastolic blood pressure reading,” — and propelled mucus into the sinuses every time. It was unclear whether this was harmful, but added that during sickness it could shoot viruses or bacteria into the sinuses, and possibly cause further infection.

The story is based on research done at the University of Virginia and published in the journal of Clinical Infectious Diseases in 2000. Read the research here.

Based on this research, it does seem wise to avoid nose-blowing, but if one must, to use decongestants and blow only one nostril at a time gently. Using saline flushes would be helpful as well.

Read the story here.

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Can Playing a Wind/Brass Instrument Be a Source of Recurrent Infections?

Is playing a wind/brass instrument a significant factor for recurrent strep, URI's, sinus infections, etc in people? Is such use contagious? If so, how does one even go about "sterilizing" the instrument after use by a sick person so that they don't infect themself again as well as players around them when blowing into it?

I got asked these questions by one astute parent of a trumpet player. After some inquiries and research, I actually don't have a good answer to whether they may be contagious and a source of germs, though it would make sense that they would be (well-known medical principle being bacteria grows in dark wet areas).

In any case, there are various techniques as well as common sense to try and semi-sterilize the instrument to prevent potential bacterial growth deep in the pipes of wind/brass instruments:

1) Don't share your instrument! Here's a journal article regarding the hazards of sharing instruments.
2) Thoroughly dry out the instrument after use via air and brush.
3) Never play the instrument while you are sick.
4) Replace the reed if it looks nasty. Clean mouthpiece thoroughly daily.
5) Brass instruments can indeed be washed in the bathtub with warm soapy water (not so for silver!)
6) Many players commonly angle their instruments up in the air when playing allowing some fluid to drain back. This practice can create a path for harmful bacteria to make its way back into the mouth from the body of the instrument. Try and avoid doing this!

There is also this one company that claims to help with musical instrument sterilization.

MaestroMD

This issue was so concerning in Massachusetts, that a law is being passed to require sterilization of musical instruments in schools! Read more here.

Here's a NPR news article on a trombone player whose instrument  caused a chronic cough due to mold contamination.

Do readers have any other suggestions? Please post a comment!

References:
- A microbiological survey into the presence of clnically significant bacteria in the mouthpieces and internal surfaces of woodwind and brass musical instruments. Link

- Horn with nasty microbes. Link

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New Images of Ear Hematoma After Treatment with Quilting Suture

New images have been added to our Cauliflower Ear webpage showing what the ear looks like after hematoma drainage and quilting suture applied after 1 week and after 6 weeks. The images are shown below.

Front Ear: 1 week after hematoma drainage and quilting suture applied.

Back Ear: 1 week after hematoma drainage and quilting suture applied.

Front Ear: 6 weeks after hematoma drainage and quilting suture applied.

Back Ear: 6 weeks after hematoma drainage and quilting suture applied.

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WP: Vaccine that Prevents the High of Cocaine!

The Washington Post on January 5, 2010 published a story "Testing of cocaine vaccine shows it does not fully blunt cravings for the drug" describing research in which participants were unable to experience the high of cocaine with use. Apparently, the vaccine creates antibodies to the cocaine that prevented its effects.

Cocaine is an important illicit drug in the ENT world as it is associated with multiple nasal problems including septal perforation, nasal bleeding, rhinitis, nasal crusting, sinusitis, etc.

Read more about the story here.

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RANDOM: Benford's Law Applied to Health?

Today, I listened to an amazing NPR RadioLab episode titled "Numbers."

In one of the stories in this episode, Jad and Robert Krulwich educated me on an interesting mathematical phenomenon called Benford's Law. Simply stated, Benford's Law states that in lists of numbers from many (but not all) real-life sources of data, the leading digit is distributed in a specific, non-uniform way. According to this law, the first digit of a number is "1" almost one third of the time, and larger digits occur as the leading digit with lower and lower frequencies, to the point where 9 as a first digit occurs less than one time in twenty. This is completely contrary to the expectation that the number 9 or 8 should occur equally as frequently as 1 or 2.


(From "The First-Digit Phenomenon" by T. P. Hill, American Scientist, July-August 1998)

But get this... This law holds true whether talking about random samples from a day's stock quotations, a tournament's tennis scores, the numbers on the front page of The New York Times, the populations of towns, electricity bills in the Solomon Islands, the molecular weights of compounds, the half-lives of radioactive atoms, and much more.

It seems to me that if the universal natural state of order follows Benford's Law... I wonder whether it also holds true for the human body...

I did a pubmed search and it seems that there have been a few researchers who had the same idea, most applied only to basic biological processes:

- Biologic kinetic rate parameters follow Benford's Law (abstract)
- mRNA transcription data from a wide range of organisms and measured with a range of experimental platforms show close agreement with Benford's law (abstract)
- Different states of anesthesia can be detected by Benford's Law (link)

Just for giggles and kicks, I looked up normal bloodwork values for a human being. This website nicely listed the most common normal values. I than jotted down the frequencies of the first integer of all the lab values listed and here's what I came up with:

#1 (30.5%)
#2 (17.1%)
#3 (10.2%)
#4 (10.2%)
#5 (7.3%)
#6 (7.3%)
#7 (6.5%)
#8 (5.8%)
#9 (5.1%)

Amazingly... though the frequencies don't match up perfectly, they do come eerily close to Benford's Law.

With larger lists of numbers, the approximations may come even closer. Potential neat project for a student, eh?

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New Webpage on Cauliflower Ear/Auricular Hematoma

Tis the time of year when auricular hematoma is common with high school wrestling. Just in the past 3 weeks, our office had to treat 4 ear hematomas in order to prevent cauliflower ear formation. Given how common it is based on the season, a new webpage has been created describing this condition and how it can be treated.

Check it out here!

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