Today is Stephen Hawking’s 70th birthday!

Not an insignificant feat for someone who has been dealing with a serious illness for most of his life.

Beginning at age 21, the British physicist and mathematician has experienced progressive loss of muscle function, leaving him nearly completely paralyzed and only able to communicate through a computerized voice (which he jokes “gives him an American accent”).

Despite his disability, Professor Hawking has had a long and distinguised career studying “black holes” and other remarkable features of the universe. Unlike many scientists, he is also a gifted communicator of scientific concepts and is the author of several books, including some for children.

In recognition of Hawking’s upcoming 70th birthday, the Centre for Theoretical Cosmology, University of Cambridge, is hosting a symposium entitled “The State of the Universe” on January 8. In addition, an exhibition of his life and work will open at the Science Museum, London, on January 20.

Although it is frequently reported that Hawking suffers from Amoytrophic Lateral Sclerosis (ALS), or Lou Gehrig Disease, most medical experts believe that what he actually suffers from is a related illness called Spinal Muscular Atrophy (SMA).

Both ALS and SMA are just two of a group of disorders, called Motor Neuron(e) Diseases (MND), where nerve cells that control muscles are damaged. Muscle cells depend on stimulation from nerves to function, and without this stimulation, muscle cells weaken or die. This leads to the classic symptoms of progressive muscle weakness. In both diseases, mental functioning remains normal.

But there are major differences between the two diseases:

Spinal Muscular Atrophy

Spinal Muscular Atrophy occurs when a “survivor motor neuron” gene is deleted or mutated, preventing the creation of a protein necessary for muscle strength. This disease varies in severity; the younger the age of onset, the more severe the symptoms. Infants with the disease most likely die before two years of age. Adult onset is associated with a much better prognosis, and the potential for a normal life expectancy. The most common types include:

SMA type I, also called Werdnig-Hoffmann disease, is noticeable by the time a child is 6 months old. Symptoms may include severely decreased muscle tone, decreased arm and leg movements, absence of reflexes,  tremors, swallowing and feeding difficulties, and difficulty breathing. Some children also develop scoliosis (curvature of the spine) or other skeletal abnormalities. Affected children never sit or stand and the vast majority usually die of respiratory failure before the age of 2.

Symptoms of SMA type II usually begin after the child is 6 months of age. Features may include inability to stand or walk, respiratory problems, low muscle tone, and decreased or absent  reflexes. These children may learn to sit but do not stand. Life expectancy varies, and some individuals live into adolescence or later.

Symptoms of SMA type III (Kugelberg-Welander disease) appear between 2 and 17 years of age and include abnormal gait; difficulty running, climbing steps, or rising from a chair; and a fine tremor of the fingers. The lower extremities are most often affected. Complications include scoliosis and joint contractures—chronic shortening of muscles or tendons around joints, caused by abnormal muscle tone and weakness, which prevents the joints from moving freely.

Amyotrophic Lateral Sclerosis

On the other hand, it is unknown what causes Amyotrophic Lateral Scherosis. It most frequently occurs in adults over 40.

Symptoms are usually noticed first in the arms and hands, legs, or swallowing muscles. Affected individuals lose strength and the ability to move their arms, legs, and body.

Other symptoms include spasticity, muscle cramps, and increased problems with swallowing and forming words. Speech can become slurred or nasal.

When muscles of the diaphragm and chest wall fail to function properly, individuals lose the ability to breathe without mechanical support. Most patients die within 3 to 5 years from the onset of symptoms.

Although the disease does not usually impair a person’s mind or personality, several recent studies suggest that some people with ALS may have alterations in cognitive functions such as problems with decision-making and memory.

Organizations such as the Muscular Dystrophy Association and the National Institute of Neurological Diseases and Stroke support a broad range of research aimed at discovering the cause(s) of MNDs, finding better treatments, and, ultimately, preventing and curing the disorders.

Various MND animal models (animals that have been designed to mimic the disease in humans) are being used to study disease pathology and identify chemical and molecular processes involved in cellular degeneration.  Both diseases may eventually be treated or cured by research involving new drugs, growth factors and stem cell therapy.

Apple Founder Steve Jobs has died at the age of 56.

Jobs recently stepped aside as Apple CEO due to poor health. As we have reported on numerous occasions, Jobs suffered from a neuroendocrine tumor of the pancreas, NOT the pancreatic cancer he is frequently reported by the media as having.

He underwent a liver transplant in June 2009, and urged others to become organ donors.

Steve Jobs was a visionary who took technology to a whole new level. The world is a different place because of him.

He will be missed. R.I.P. Steve.

Has Dr. Mehmet Oz gone too far this time?

It’s one thing to urge people to analyze the sound and shape of their poop, or to recommend pepto-bismol as a anti-aging facial.

But when you mess with one of the cornerstones of childhood beverages-namely, apple juice- you may have just gone too far!

This week on The Dr. Oz Show,  Oz aired an “investigative report” revealing that some of the best known brands of apple juice , including Minute Maid, Apple & Eve, Mott’s, Juicy Juice, and Gerber,  may contain arsenic and that parents should be concerned.

The show hired an independent laboratory, EMSL Analytical, to test samples of juice taken from three U.S. cities for arsenic. They then compared this to the Environmental Protection Agency’s EPA) safe standard for drinking water, which is less than 10 parts per billion. According to Oz, several sampled tested higher than this limit.

The FDA has questioned these results, centering primarily on Oz’s testing methods, which provided only the level of total arsenic in the juices. There are two forms of arsenic — organic and inorganic.

According to the FDA: The inorganic forms of arsenic are the harmful forms, while the organic forms of arsenic are essentially harmless. Because both forms of arsenic have been found in soil and ground water, small amounts may be found in certain food and beverage products, including fruit juices and juice concentrates. The reason the organic form of arsenic is not harmful is because it is not absorbed by the body.

Apparently, the FDA warned Dr. Oz’s staff that they questioned his results, even before the show was aired, but he showed it as is anyway.

This lead to a rather heated debate between Dr. Oz and ABC medical correspondent, Dr. Richard Besser on Good Morning America:

Five things to know about Arsenic and Apple Juice

1.  Although arsenic has been banned from pesticides in this country since the 1970, small amounts of arsenic will always be around as it is a natural chemical.

2. Apple juice is a blend of juices from all over the world. Although some areas, such as southeast Asia, may have some areas with higher arsenic levels,the overall level of arsenic in apple juice has remained low over the long period of time that the FDA has been monitoring levels.

3. The FDA is unaware of any data that shows that organic juice tends to have less arsenic than non-organic apple juice. Even organic apples come from trees that grow in soil that may contain arsenic.

4. FDA completed laboratory analysis of the same lot of Gerber apple juice that was tested by the Dr. Oz. Show, as well as several other lots produced in the same facility. The FDA’s testing detected very low levels of total arsenic in all samples tested. These new results were consistent with the FDA’s results obtained in the FDA’s routine monitoring program and are well below the results reported by the Dr. Oz Show.

5. Where can I get more information?

• FDA: Apple Juice is Safe To Drink http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm271394.htm
• Arsenic and Apple Juice: Questions and Answers http://www.fda.gov/Food/ResourcesForYou/Consumers/ucm271595.htm
• Letters from FDA to The Dr. Oz Show Regarding Apple Juice and Arsenic http://www.fda.gov/Food/ResourcesForYou/Consumers/ucm271746.htm

So, do you think Dr. Oz went too far by airing this report?

Will you stop giving your child apple juice?

Many of you no doubt remember the story of Charla Nash. Charla was the friend of a woman who kept  200 pound chimpanzee Travis as a pet, who, in February 2009, savagely attacked her without warning. Nash was left blind, with severe facial deformities and without both hands. Despite the devastating injuries, Nash survived and became an inspiration for many, telling her story on Oprah and the Today show.

It was reported today that Nash has undergone a face transplant at Boston’s Brigham and Woman’s Hospital. During the 20 hour procedure, a  team of physicians replaced Nash’s nose, lips, facial skin, facial muscles and nerves. A double hand transplant was also performed, however the hands did not do well and had to be removed.

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In the past the only way to fix a severe facial disfigurement was to use skin grafts. This involved taking pieces of healthy skin from elsewhere on the body or from a cadaver and placing them over the missing parts of the face. Although a skin graft may cover a defect, they can’t really restore the appearance or movement to the affected area.

The world’s first partial face transplant on a living human was carried out in November 2005 in France. Isabelle Dinoire underwent surgery to replace her original face that had been mauled by her dog. The first facial transplant in the United States was at the Cleveland Clinic in December 2008. This operation was the first facial transplant known to have included bones, along with muscle, skin, blood vessels, and nerves. The woman received a nose, most of the sinuses around the nose, the upper jaw, and even some teeth from a brain-dead donor.

How is a face transplant performed?

A great of preparation must be done before a face transplant is considered. Potential recipients are carefully screened physically and psychologically to make sure they will be able to handle the physical and emotional demands that the procedure will entail.

The donor must also be carefully selected. The facial tissues must still be attached to the circulation of  a “living” donor who is brain dead with no chance of recovery. Once the blood vessels are cut, the countdown clock starts and the tissues need to be transplanted as soon as possible to  ensure the best results. A special test, called a HLA test is performed on the tissue of the donor which characterizes the specific proteins on cells that stimulate the body’s immune system. The closer the HLA profile of the donor and the recipient, the less likely the tissue is to be rejected. The donor face is also matched for skin color and age of the skin.

Photo source: Discovery Health

The recipient of the face transplant will be worked on by rotating teams of doctors who will prepare the area for the surgery. Using microscopic surgical techniques the tiny blood vessels of the donor and recipient are sewn  together to restore blood flow to the tissues.  Bony structures may need to be pinned in place. Nerves and muscles are also connected. Finally, the skin is laid over the patient and sewn in its final position.

Interestingly, according to the Face Transplant team at Brigham and Women’s Hospital, a second small procedure is done at the same time. A small patch of the donor’s skin is transplanted on the chest or abdomen of the recipient. This area of skin will hopefully behave like the skin of the transplanted face and, if necessary, can be biopsied to look for signs of rejection, minimizing the need to biopsy the new face.

Like all transplant recipients, a face transplant recipient will need to take lifelong immunosuppressive medications to keep their immune system from rejecting the transplant. These medications can increase the risk of infection in these patient, as well as the risk of diabetes and cancer.
The big question about face transplants that everyone asks is whether the face transplant recipient look exactly like the donor? The answer is no. How the face looks is not defined solely by the skin — the underlying bone,fat and muscle structure are also important factors. After the procedure, the patient will probably look like a combination of themselves and the donor.

Today, during an invited lecture at the Harvard School of Public Health, Celebrity Diagnosis co-founders Drs. Mark Boguski and Michele Berman, defined a new concept in health communication at the interface of social media and pop culture. Dubbed The Goody-Gaga Effect, it refers to the phenomenon of sharply increased volume of search traffic, for specific diseases or medical conditions, that correlates with a celebrity association with that disease or condition.

The Goody-Gaga Effect is named after the late British Reality TV personality, Jade Goody, (photo inset) and Lady Gaga based on their widely-publicized associations with cervical cancer and the autoimmune disorder lupus, respectively.

Free e-book:

The Goody-Gaga Effect: Health Behavior, Social Media & Popular Culture

Many of our most popular stories are about diets and weight management.  Did you know that some psychologists and psychiatrists would like to classify obesity as a brain disease? The reason for this is that there is mounting evidence that food, or certain types of food, can trigger the same addictive effects in the brain as drugs like heroin and cocaine. There is also substantial evidence that some people lose control over their food consumption and exhibit other behaviors (e.g. tolerance, withdrawal)  that may meet diagnostic criteria (see below) for substance dependence.

Laboratory scientists have used animal models borrowed from drug addiction research to study food addiction. In one study, rats were given access, not to cocaine or heroin but rather to a “cafeteria-style” diet including bacon, sausage, cheesecake, pound cake, frosting and chocolate.  As a result,  some of the rats became compulsive eaters. Compulsiveness is considered a hallmark of addiction in humans.

Psychology researchers at Yale University have developed a written test to identify people who may suffer from food addiction. The scientific background of this work is described in this video on UCTV.

Here are the diagnostic criteria for substance dependence according to the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR).

Substance dependence is defined as a maladaptive pattern of substance use leading to clinically significant impairment or distress, as manifested by three (or more) of the following, occurring any time in the same 12-month period:

1. Tolerance, as defined by either of the following: (a) A need for markedly increased amounts of the substance to achieve intoxication or the desired effect or (b) Markedly diminished effect with continued use of the same amount of the substance.
2. Withdrawal, as manifested by either of the following: (a) The characteristic withdrawal syndrome for the substance or (b) The same (or closely related) substance is taken to relieve or avoid withdrawal symptoms.
3. The substance is often taken in larger amounts or over a longer period than intended.
4. There is a persistent desire or unsuccessful efforts to cut down or control substance use.
5. A great deal of time is spent in activities necessary to obtain the substance, use the substance, or recover from its effects.
6. Important social, occupational, or recreational activities are given up or reduced because of substance use.
7. The substance use is continued despite knowledge of having a persistent physical or psychological problem that is likely to have been caused or exacerbated by the substance (for example, current cocaine use despite recognition of cocaine-induced depression or continued drinking despite recognition that an ulcer was made worse by alcohol consumption).

So what do you think? Is obesity a disease of the body or the brain (or both)?

Further information courtesy of Resounding Health.

This article was sponsored by

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Last Monday, Dr. B and I attended Endocrine Grand Rounds at Boston University School of Medicine where the guest speaker was diet wisdom doubter Gary Taubes.  We don’t believe the presentation was recorded, but similar presentations given at the University of California at Berkeley, Dartmouth Medical School and elsewhere are readily available online and are well-worth watching (links provided at the end of today’s post).

The audience at the BU Grand Rounds, which consisted of both endocrinologists and nutritionists, was polite until the post-presentation Q&A when a “food fight” erupted over heated exchanges with the guest speaker during which two audience members stormed out of the room.

We were familiar with Mr. Taubes’ work, having read his book Good Calories, Bad Calories published in 2007.  We have also read a draft of his new book, Why We Get Fat and What To Do About It which will be out later this year.

Both books describe the history and development of the conventional wisdom on diet, weight control and disease that Taubes believes resulted in a tragic degradation of American health because that conventional wisdom derived from incomplete or faulty science that was prematurely enshrined as government policy in the U.S. and other other countries beginning in the 1960s. Specifically, that conventional wisdom is the energy balance paradigm otherwise known as calories-in-calories-out. There are many official versions of the paradigm, from various U.S. Government agencies, the World Health Organization, the U.K. Medical Research Council and INSERM in France, but they are all equivalent to the CDC’s version:

“Weight management is all about balance — balancing the number of calories you consume
with the number of calories your body uses or ‘burns off.’”

Mr. Taubes, has reviewed all of the evidence behind this belief and concluded that, despite seeming so unquestionably true, it is actually false and dangerously misleading.

His alternative theory is summarized as follows:

• Obesity is a disorder of excess fat accumulation and not the result of energy imbalance, overeating or sedentary behavior.
• Overeating and inactivity are compensatory effects; they are not causes of obesity.
• We don’t get fat because we overeat, we overeat because our adipose tissue is accumulating excess fat.

In our opinions, Gary Taubes makes a compelling case that much of what we think we know about dieting and weight management is wrong. Given the epidemic of diabetes and obesity (“diabesity”) in the United States (and globally, “globesity”), the healthcare costs associated with these diseases, and new public policies emphasizing wellness and preventive care, patients, doctors and politicians all need to learn and think about what Taubes has to say.

Video presentations of Why We Get Fat

• Dartmouth Medical School June 5, 2009
• Berkeley November 7, 2007
• Debate with Dr. Dean Ornish on The Charlie Rose Show (guest moderator: Dr. Mehmet Oz)  July 26, 2002

Gary Taubes’ new book is available for pre-order from Amazon.

Last week, we did a story about Dr. Mehmet Oz’s cancer scare. On routine screening colonoscopy, doctors found and removed an benign tumor called an adenomatous polyp. Dr. Oz underwent the traditional method of colonoscopy with a flexible colonoscope. However in February of this year, President Obama underwent a virtual colonoscopy during his annual physical exam. So, what are the pros and cons of tradition vs. virtual colonoscopy?

Virtual colonoscopy uses either a CT or MRI scanner to develop a 3-D image of the colon. Like traditional colonoscopy, a thorough bowel clean-out is necessary. Before the exam, a CT-scan patient drinks a liquid contrast media. To start the exam, a thin tube is inserted through the anus and into the rectum. For CT, carbon dioxide gas is pumped through the tube expanding the large intestine for better viewing. For MRI, contrast media will be given rectally to expand the large intestine.

What are the advantages of virtual colonoscopy? Source: NIDDK

Virtual colonoscopy has several advantages over other procedures:

• Virtual colonoscopy does not require the insertion of a colonoscope into the entire length of the colon. Instead, a thin tube is inserted through the anus and into the rectum to expand the large intestine with air.
• No sedation is needed. A patient can return to usual activities or go home after the procedure without the aid of another person.
• Virtual colonoscopy provides clearer, more detailed images than a conventional x-ray using a barium enema — sometimes called a lower GI series.
• Virtual colonoscopy takes less time than either conventional colonoscopy or a lower GI series.
• Virtual colonoscopy can see inside a colon that is narrowed due to inflammation or the presence of an abnormal growth.

What are the disadvantages of virtual colonoscopy?

Virtual colonoscopy has several disadvantages:

• As with conventional colonoscopy, virtual colonoscopy requires bowel prep and the insertion of a tube into the rectum for expanding the large intestine with gas or liquid.
• Virtual colonoscopy does not allow the doctor to remove tissue samples or polyps.
• Virtual colonoscopy does not detect precancerous polyps smaller than 10 millimeters.
• Many health insurance plans, including Medicare, do not pay for virtual colonoscopy cancer screening.
• Virtual colonoscopy is a newer technology and is not as widely available as conventional colonoscopy.

According to a May MedPage Today article, even when insurance companies cover virtual colonoscopy many people will decide to undergo the traditional colonoscopy. Reseacher Patrick Pfau, MD postulated that :” When doctors tell patients about the undiminished need for bowel preparation with CT colonography, as well as its lower sensitivity for certain lesions and the requirement that patients undergo a regular colonoscopy to confirm and treat positive findings, their enthusiasm for initial CT colonoscopy often wanes.

This video shows a virtual colonoscopy of the rectosigmoid colon performed in a retrograde fashion. There is a 10-mm colonoscopically-proven polyp in the sigmoid colon seen at the top of the frame at the midpoint of the movie. The movie concludes at the tip of the rectal tube which was used to insufflate the colon. CT dataset courtesy of C. Daniel Johnson, MD, Department of Radiology, Mayo Clinic, Rochester, MN, and was found on the National Institute of Health Clinical Center website.

Virtual colonoscopy images of a colon: left, with the patient scanned supine (face up) ; right, with the patient scanned prone(face down). The red colored area indicates a polyp detected by computer-aided detection (CAD). Images courtesy of Dr. Ronald M. Summers, Diagnostic Radiology Department, Clinical Center, National Institutes of Health.

Dr. Mehmet Oz is always encouraging people to live healthier lives, and that includes following recommendations about colon cancer screening. This year, Dr. Oz turned 50, and as according to recommendations, he underwent a colonoscopy. During the examination, his doctor found and removed an adenomatous polyp, a precancerous growth, inside his intestine. Dr. Oz told People magazine:

“This was a shakeup for me.  I have done everything right. I don’t have any family history, and yet I’m high risk now….The only thing holding me back from a terrible outcome is the dumb luck that I checked myself out for the show. I would have put this off, like a lot of people. But I bet this saved my life.”

Dr. Oz will now need to get frequent colonoscopies to make sure no new polyps have developed, the first- three months from now.

Almost all colon cancer starts in glands in the lining of the colon and rectum. Nearly all colon cancers begin as noncancerous (benign) polyps, which slowly develop into cancer. This is why screening for colon cancer with colonoscopy is so effective. We recently did a story about colonoscopy after actor John Forsythe’s death from colon cancer. Click here to learn about how a colonoscopy is done.

A polyp is an abnormal growth of tissue projecting from a mucous membrane. If it is attached to the surface by a narrow elongated stalk it is said to be pedunculated. If no stalk is present it is said to be sessile.

What is the difference between benign and malignant tumors? (Source: National Cancer Institute)

Benign tumors are not cancer:
o Benign tumors are rarely life-threatening.
o Most benign tumors can be removed. They usually do not grow back.
o Benign tumors do not invade the tissues around them.
o Cells from benign tumors do not spread to other parts of the body.

Malignant tumors are cancer:
o Malignant tumors are generally more serious than benign tumors. They may be life- threatening.
o Malignant tumors often can be removed. But sometimes they grow back.
o Malignant tumors can invade and damage nearby tissues and organs.
o Cancer cells can break away from a malignant tumor and spread to other parts of the body. Cancer cells spread by entering the bloodstream or the lymphatic system. The cancer cells form new tumors that damage other organs. The spread of cancer is called metastasis.

When colorectal cancer spreads outside the colon or rectum, cancer cells are often found in nearby lymph nodes. If cancer cells have reached these nodes, they may also have spread to other lymph nodes or other organs. Colorectal cancer cells most often spread to the liver.

When cancer spreads from its original place to another part of the body, the new tumor has the same kind of abnormal cells and the same name as the original tumor. For example, if colorectal cancer spreads to the liver, the cancer cells in the liver are actually colorectal cancer cells. The disease is metastatic colorectal cancer, not liver cancer. For that reason, it is treated as colorectal cancer, not liver cancer. Doctors call the new tumor “distant” or metastatic disease.

For more information about colon cancer, click here to go to the Resounding Health Casebook on Colon Cancer.

For more information about the importance of family history in illness, check out our articles about Lady Gaga, and President Obama.

One of the big winner at last night’s Emmy Awards was an HBO film called Temple Grandin. It won Emmys  for Outstanding Made For Television Movie, Outstanding Supporting Actor in a Miniseries or a Movie – David Strathairn, Outstanding Lead Actress in a Miniseries or a Movie – Claire Danes, Outstanding Directing for a Miniseries – Mick Jackson, and Outstanding Supporting Actress in a Miniseries or a Movie – Julia Ormond. The movie is a biopic of Dr. Temple Grandin, a woman with autism who has become one of the top scientists in the humane livestock handling industry. Born in 1947, Grandin was diagnosed early in life with “brain damage” (the term autism hadn’t been termed yet)- she was unable to speak until she was 4 years old; she was socially withdrawn and had frequent tantrums. Typically, a child with these symptoms at that point in history would be institutionalized, however Temple’s mother refused to allow this to happen. Instead she gave her speech therapy, put her in a structured nursery school and hired a nanny who spent hours playing with her. With the support of her mother, her aunt and a number of teachers at school, Temple eventually went on to get a doctorate in Animal Science from Arizona State University and became a professor at Colorado State University. She was the subject of an Oliver Sachs book- An Anthropologist on Mars, and wrote a number of books telling her own story about being autistic including :The Way I See It: A Personal Look at Autism and Asperger’s, and Thinking in Pictures. Grandin has been an advocate promoting humane livestock handling processes. Her Livestock Web site has entire sections on how to improve standards in slaughter plants and livestock farms. She has also been an renowned public advocate for those born on the autistic spectrum. She has been the subject of a number of documentaries about her life. Links to excerpts of these can be found here:

The Woman who Thinks Like a Cow.

Stairway to Heaven — Temple Grandin Part 1

Asperger’s Syndrome (AS) is a developmental disorder which is part of the Autistic Spectrum Disorders (ASD)- a group of neurological conditions characterized by a greater or lesser degree of impairment in communication and social skills, as well as repetitive or restrictive patterns of thought and behavior. Individuals with AS are differentiated from others with autism in that they retain their early language  and cognitive skills, and tend to be less severely impaired than those with autism.

Like those with autism, those with AS tend to be socially awkward, have difficulty with changes in routine, have clumsy and uncoordinated motor movements, and engage in repetitive routines or rituals. The most distinguishing symptom of AS is an individual’s obsessive interest in a single object or topic to the exclusion of any other. They frequently have such expertise in this topic, and speak with such formal speech patterns, that they seem like little professors. Children with AS are isolated because of their poor social skills and narrow interests.

The cause of autism and Asperger’s Syndrome are unknown. There is no known “cure,” however much can be done to help these individuals. The ideal treatment for AS coordinates therapies that address the three core symptoms of the disorder:  poor communication skills, obsessive or repetitive routines,and physical clumsiness.  There is no single best treatment package for all children with AS, but most professionals agree that the earlier the intervention, the better.