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

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.

Image from wikipedia.

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.

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.

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.

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.